Chromosomoal disorder. Partial autosomal monosomy caused by microdeletion leading to skeletal and developmental disorders

Autosomal recessive disorder caused by mutation in CYP11B1 gene causing adrenal glands to produce excess androgens.

Autosomal dominant disorder caused by deletion of a piece of chromosome 12 causing learning and physical development deficits.

Random or inherited disorder caused by deletion of a piece of genetic material on long arm of chromosome 15 causing mental and physical development deficits.

Random or autosomal dominant disorder caused by deletion of at least 7 genes on long arm of chromosome 15 causing mental and physical development deficits

Random or autosomal dominanat disorder caused by extra piece of genetic information long arm of chromosome 15 causing mental and physical development deficits.

Random mutation disorder caused by missing piece of genetic information chromosome 15 causing mental and physical development deficits.

Inherited or random mutation disorder caused by missing information on a specific region of chromosome 16 designated as p11.2 causing mental and physical development deficits.

Autosomal dominant or random mutation disorder caused by duplication on the 11.2 region of long arm of chromosome 16 causing varying mental and physical development deficits.

Inherited or random mutation disorder caused by microdeletion on the 24.3 region chromosome 16 causing autism, intellectual disabilities and physical development deficits.

A very rare form of congenital adrenal hyperplasia caused by a deficicency of 17a-hydroxylase resulting in glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertensio...

Autosomal dominant or random mutation in which there is a small missing piece of genetic material on the long arm of chromosome 17

Autosomal dominant or random mutation in which there is a extra copy of genetic material on the long arm of chromosome 17

Condition caused by a small deletion of genetic material from chromosome 17 encompassing bands 23.1 to 23.2 on the long arm of the chromosome.

Autosomal recessive disorder caused by a defect in biochemical step of aldosterone biosynthesis, the 18-hydroxylation of corticosterone (B) to 18-hydroxycorticosterone (18-OHB).

A 19p13.12 microdeletion is a very rare genetic condition, in which there is a tiny piece from the region known as p13.12, on chromosome 19.

Inherited or random 1q duplications are chromosome abnormalies that occurs when there is an extra copy of genetic material on the long arm of chromosome 1.

1q21.1 microdeletion syndrome is a chromosome abnormality where a segment of genetic material on the long arm of chromosome 1 at position 21.1 is deleted

1q44 microdeletion syndrome is a chromosome abnormality where a segment of genetic material on the long arm of chromosome 1 at position 44 is deleted.

Autosomal dominant/rescessive conditiont that causes progressive damage to the brain.

Autosomal rescessive condition in which individuals lack adequate levels of 2-methylbutyryl-CoA dehydrogenase, which assists in the processing of isoleucine leading to the buildup of the amino acid.

Autosomal recessive condition marked by progressive encephalopathy with leukodystrophy due to DECR deficiency and associated with the DECR1 gene.

20q12.3 is a microdeletion syndrome is a chromosome abnormality where a segment of genetic material on chromosome 20 at position 12.3 is deleted.

Autosomally recessive inherited disease caused by genetic changes in the CYP21A2 gene in which the missing enzyme leads to overproduction of specific hormones made by the adrenal glands.

Autosomally dominantly inherited or random disorder caused by a deletion of a small part of chromosome 22 near the middle of the chromosome at a location known as q11.2.

Autosomally dominantly inherited or random disorder used by an extra copy of a small piece of chromosome 22 which contains about 30 to 40 genes.

Deletion of a small piece of chromosome 22 near the end of the long arm of the chromosome at a location designated as q13.3 sometimes including the loss of the SHANK3 gene

Chromosome 2p16.1-p15 deletion syndrome is a neurodevelopmental disorder characterized by delayed psychomotor development and intellectual disability.

Random disorder caused by the loss of a small piece of DNA in one copy of chromosome 2, one of the 23 pairs of chromosomes in each cell in our bodies.

Random disorder caused by a deletion of the genetic material from a specific region in the long (q) arm of chromosome 2

Inborn error of leucine metabolism with a variable clinical phenotype

A rare condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting)

Caused by changes (mutations) in the HSD3B2 gene and is inherited in an autosomal recessive manner leading congenital adrenal hyperplasia

Rare metabolic condition in which the body is unable to breakdown certain amino acids, caused by changes in the ALDH6A1 gene and inherited in an autosomal recessive manner.

Autosomal recessive coniditon caused by mutations in MCCC1 or MCCC2 gene in which the body is unable to breakdown the amino acid, leucine.

Autsomal recessive growth disorder caused by mutations in one of three genes: CUL7, OBSL1, and CCDC8

3MC syndrome is a disorder characterized by unusual facial features and problems affecting other tissues and organs.

Random (non-inhertied) disorder caused by the loss of a small piece of DNA in one copy of chromosome 3

Non-inherited condition in which a person with two X chromosomes (which is normally found in females) has a male appearance

Condition in which an individual develops from one X chromosome and one Y chromosome in each cell

Characterized by the presence of an additional (third) X chromosome in each of a female’s cells

Non-inherited disorder caused by having an extra copy of the Y chromosome in every cell of the body.

Non-inherited disorder characterized by the presence of 2 extra X chromosomes in males.

Non-inherited disorder characterized by the presence of an extra X and Y chromosomes in males.

Non-inherited disorder ype of chromosome abnormality characterized by the presence of 3 extra X chromosomes in males.

Non-inherited disorder of chromosome abnormality that occurs when a male inherits two extra copies of the X chromosome and one extra copy of the Y chromosome.

Autosomal recessive condition that primarily affects male sexual development before birth and during puberty. Their bodies, do not produce enough of a hormone called dihydrotestosterone (DHT).

The condition is caused by mutations affecting the MEF2C gene and deletions in the q14.3 region of chromosome 5

Causes hyperphenylalaninemia and is responsible for defective neurotransmission of monoamines due to malfunctioning tyrosine and tryptophan hydroxylases

Autosomal recessive mutations in the HSD17B3 gene that affects male sexual development. People with this condition are genetically male and have testes, but do not produce enough testosterone.

Random mutation and autsomal dominant disorder caused by duplicated genetic material from chromosome 7.

Rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8.

8q12 microduplication syndrome is associated with unusual and characteristic multi-organ clinical features

Autosomal reccesive disorder of idiopathic familial intrahepatic cholestasis attributed to mutations in the LSC1 gene on chromosome 15q.

FGD1 mutation on the X chromosome causing short stature, facial, limb, and genital abnormalities, with occasional cognitive disorders.

Benign malformation of the lymphatic vessels in the abdomen with unclear cause

Congenital vascular anomaly of the subclavian artery

Autosomal recessive condition affecting fat and vitamin absorption by the intestines and liver, leading to very low LDL-cholesterol and malnutrition

Spontaneous or autosomal dominant condition that is characterized by absent eyelids (ablepharon) and very large mouth (macrostomia), caused by mutations in the TWIST2 gene.

CHARGE-like syndrome (Cleft palate-coloboma-deafness syndrome; Cleft palate-coloboma-hearing loss syndrome), X-linked recessive, caused by mutations in the TBX22 gene

Malformation characterized by the absence of the flat skull bones of the brain, dura mater, and scalp muscles

A parasitic infection caused by tropical insect bite carrying ova of filarial worms called Dipetalonema, producing microfilariae in the blood and body fluids dominant in Africa

An acanthoma is a small, reddish benign growth on the skin of an older adult.

Inborn error of metabolism characterized by a deficiency in erythrocyte catalase, an enzyme responsible for the breakdown of hydrogen peroxide

Rare, autsomal recessive, adult-onset vascular disorder. People with ACDC have calcium build-up in the large vessels (mainly below the waist) and in the joints of the hands and feet

Caused by genetic changes in the CP gene and is inherited in an autosomal recessive pattern that leads to excess iron buildup

Acetyl-Coa Acetyltransferase 2 Deficiency is a rare genetic disorder where an anomaly causes the enzyme, Acetyl-Coa Acetyltransferase 2, to reach extremely low levels.

An extremely rare genetic syndrome characterized by the association of microcephaly, intellectual deficit and achalasia.

A rare genetic syndrome featuring connective tissue abnormalities

A group of rare skeletal dysplasias [

Skeletal dysplasia caused by a change in the fibroblast growth factor receptor 3 (FGFR3) [

Genetic disease characterized by inability to metabolize fatty substance sphinomyelin due to mutations in the SMPD1 gene (type A and B) [

Genetic disease caused by defects in the metabolism of four amino acids (methionine, threonine, isoleucine and valine) [

Benign growth that compresses cranial nerve VIII [

Disorder in which the bone marrow fails to produce blood cells [

Autoimmune disorder characterized by bleeding that occurs in patients with no personal or family history of diseases related to clotting/coagulation [

Complete (generalized) or partial loss of adipose tissue

Inflammatory disease characterized by abnormal peripheral nerve impulses resulting in continuous activity [

Genetic disorder characterized by underdevelopment or complete absence of the corpus callosum resulting in mental retardation. [

Disorder of zinc metabolism; one congential, two acquired forms [

Rare genetic disorder characterized by skeletal malformations, growth delays, short stature, and distinctive facial features; genetic mutations in PRKAR1A gene (type 1) or the PDE4D gene (type 2) indi...

Disorder characterized by excessive growth hormone (GH) production [

Progressive skeletal disorder that results in a particular form of short stature known as short-limb dwarfism [

Acromicric Dysplasia is an extremely rare inherited disorder characterized by abnormally short hands and feet, growth retardation and delayed bone maturation leading to short stature, and mild facial ...

A result of decreased or absent production of adrenocorticotropic hormone (ACTH) by the pituitary gland. [

An inherited condition that affects the way the immune system works. [

A neurological, immune-mediated disorder in which widespread inflammation of the central nervous system damages tissue known as white matter. [

A rare disorder characterized by the rapid accumulation of eosinophils in the lungs (pulmonary eosinophilia). [

Acute Hepatic Porphyria is a rare genetic disease affecting the heme synthesis pathway.

Incomplete maturation of blood cells and reduced production of other normal hematopoietic stem cells. [

A blood cancer characterized by a marked increase in a type of immature white blood cells known as promyelocytes. [

Severe, acute lung dysfunction affecting all or most of both lungs that occurs as a result of illness or injury. [

A rare inherited condition present at birth that involves changes to the limbs and scalp. [

A neurologic disorder with a variety of movement abnormalities. [

A rare disorder characterized by inadequate production of the steroid hormones cortisol and aldosterone by the two outer layers of cells of the adrenal cortex. [

A form of cancer that most commonly develops in the salivary glands or other regions of the head and neck. [

An inherited metabolic disorder. [

A neurological disorder affecting the pupil of the eye. [

A neurodevelopmental genetic disorder caused by changes (mutations) in the ADNP gene. [

A group of progressive, degenerative neurometabolic disorders known as the neuronal ceroid lipofuscinoses (NCLs). [

A rare, genetic disorder characterized by a deficiency of glycogen-branching enzyme. [

A rare, progressive neurological disease that causes leukodystrophy. [

A rare inflammatory disorder that can affect the entire body. [

A rare disorder characterized by a wide variety of symptoms that can affect the skin, hair, nails, teeth, certain glands and the hands and feet. [

A rare disorder characterized abnormally elevated levels of iron in the body.

A group of inherited immune deficiencies characterized by a low concentration of antibodies in the blood due to the lack of particular lymphocytes. [

A rare congenital disorder lacking development of the corpus callosum, the structure which connects the two brain hemispheres [

A rare, drug-induced blood disorder. [

A rare endocrine disorder affecting adult females. [

An extremely rare genetic disorder. [

Rare disease causing encephalopathy [

Craniofacial dysmorphism [

A genetic metabolic disease [

A genetic disorder that can affect multiple organ systems of the body. [

Rare neurological disorder [

Acquired disorder of the uterus involving the formation of scar tissue that bonds the walls of the uterus together, often following surgical interventions (such as D&C) or infections [

Poorly understood genetic syndrome (familial and sporadic) appears to be autosomal dominant affecting dermal formation and structure in infants and children

Multisystem inflammatory vasculitis of mostly unknown origin; affects vessels of varying sizes; likely involves environmental and genetic factors (Middle Eastern descent, HLA-B51 increase risk)

Qualitative platelet disorder caused by one of at least three known mutations (GP1BA, GP1BB, or GP9) affecting Glycoprotein 1b-IX-V complex and resulting in macrothrombocytopenia

Mostly seen in young-to-middle-aged male smokers; causes narrowing and occlusion of veins and arteries in extremities; cause and mechanism is largely unknown but many believe tobacco is required to tr...

Group of genetic defects all causing deficiency in NADPH oxidase; prevents the respiratory burst used by some WBCs (neutrophils, monocytes, eosinophils, macrophages) to kill pathogens; especially incr...

Mutation in AGL gene, which produces debranching enzyme for glycogen, leads to accumulation of abnormal glycogen (limit dextrans) in the liver, skeletal muscle, and cardiac muscle

Complete (Type I) or partial (Type II) deficiency in UGT1A1 leading to build up of unconjugated bilirubin.

Congenital neurological anomaly with agenesis or hypoplasia of the cerebellar vermis and enlargement of the fourth ventricle, often leading to hydrocephalus

Genetic disorder more commonly seen in males that leads to cardiomyopathy, arrhythmias, skeletal myopathy, and mild to overt intellectual disability [

Genetic disorder that affects connective tissue leading to loose, sagging, inelastic skin

Small artery occlusion leading to porcelain-white skin lesions in cutaneous Degos disease, and small intestine lesions that can perforate in systemic Degos disease

Inherited disorder that progressively affects the peripheral nerves, hindering the body's ability to move

Renal tubular disease characterized by a primary proximal tubule dysfunction with low-molecular-weight proteinuria

Disorder characterized by abnormal kidney function, Wilms tumor, and disorders of sexual developmentent in affected males

Amino acid synthesis disorder leading to neurodevelopmental delays and motor impairments

Growth of multiple painful lipomas

Inflammatory myopathy leading to degeneration of muscle and skin

Blood disorder where the bone marrow can't create red blood cells, leading to anemia within the first year of life

Proliferation of lymphatic vessels in the lungs, pleura, and mediastinum, leading to dyspnea, chest pain, chronic cough, and chylous pleural effusions

Deafness (sensorineural hearing loss), onychodystrophy (nail malformation), osteodystrophy (bone malformation), intellectual disability, and seizures

Severe form of epilepsy with frequent, prolonged seizures triggered by hyperthermia, developmental delay, speech impairment, ataxia, and hypotonia

A rare disorder that can affect the skin, blood and any internal organs, most commonly the liver, kidney, lungs and heart. The cause of DReSS is multifactorial involving drug-exposure, genetic predisp...

A congenital eye movement disorder present at characterized by horizontal eye movement limitation

A rare, benign genetic liver disorder that is inherited in an autosomal recessive pattern and is characterized by buildup of bilirubin

Rare genetic condition characterized by small stature, slow growth, and small head

Rare muscle disorder and is characterized by weakness and wasting (atrophy) of the muscles of the pelvic area followed by the involvement of the shoulder muscles

Clinically identifiable syndrome which results from duplications of the portion of 15q11.2-13.1 chromosome

A rare, progressive genetic disorder that results from mutations in the DYM (dymeclin) gene that is inherited in an autosomal recessive mode.

A rare genetic disorder of the autonomic nervous system (ANS) that primarily affects people of Eastern European Jewish heritage.

A rare genetic form of bone marrow failure, the inability of the marrow to produce sufficient blood cells that can be inherited X-linked, autosomal recessive, or autosomal dominant

A developmental bone disease of childhood also known as Trevor's disease.

A rare disorder of sight that appears as an inflammation and white haze around the outercoat of the veins in the retina.

Autosomal recessive disorder characterized by short limb dwarfism, polydactyly and congenital heart defects

Triad of muscle atrophy, contractures, and cardiomyopathy

Enlargement or malformation of the sella turcica

Rare heart disorder in infants and children leading to left ventricular hypertrophy and congestive heart failure

Genetic disorder leading to frequent blistering and scaling of the skin

Progressive degeneration of the unilateral iris leading to glaucoma and vision loss, primarily affecting women in their middle adult years

A rare blood disease in which the bone marrow produces too many platelets

Rare disorder in which the body’s immune system produces antibodies that mistakenly destroy red blood cells, platelets and neutrophils.

A rare bone and other tumors that occur most often in adolescents

X-linked enzyme deficiency of alpha-galactosidase A (a-Gal-A) causing buildup of glycolipids (globotriaosylceramide); has a severe form (Type 1) and a late-onset form (Type 2)

rare bleeding disorder-deficiency of coagulation Factor XI impairs blood clotting process.

Rare inherited cancer predisposition by mutation of APC gene characterized by hundreds to thousands of precancerous colorectal polyps

Autosomal dominant disorder characterized by deposits of calcium pyrophosphate crystals (CPP) in joint cartilage and eventual damage to affected joints.

Inherited inflammatory disorder characterized by CIAS1/NLRP3 mutations leading to intermittent episodes of rash, fever, and joint pain triggered by exposure to cold

Rare skin disorder characterized by raised, red, swollen, and warm areas of skin, in a flame-shaped pattern with associated pain

A diagnosis characterized by very significantly elevated low-density lipoprotein (LDL) cholesterol (LDL-C) due to mutations in LDLR, APOB, and PCSK9 genes

Group of rare X-linked dominant disorders characterized by impaired kidney conservation of phosphate and in some cases, altered vitamin D metabolism

A rare genetic disorder characterized by selective, progressive loss of body fat (adipose tissue) from various areas of the body.

Maternal-fetal incompatibility leads to maternal antibodies forming against and attacking paternal antigens on fetal/neonatal platelets, resulting in platelet destruction and thrombocytopenia which ca...

Inherited intellectual disability syndrome caused by CGG trinucleotide expansion repeat in the FMR1 gene, affecting the fragile X mental retardation protein (FMRP), a protein needed for synaptic devel...

Granulomatous inflammatory vasculitis of medium-to-large arteries with a preference for the temporal artery and other cranial arteries; cause is unknown but theroized to be autoimmune

An autosomal recessive nutritional disorder causing decreased absorption of neutral amino acids from the gut and kidney due to a mutation in the SLC6A19 gene

hATTR is a genetic condition causing amyloid buildup in and around various organs due to TTR protein misfolding

JPS is an autosomal dominant condition (affecting BMPR1A or SMAD4 genes) characterized by the development of hamartomatous polyps along the GI tract with onset generally prior to the age of 20. Polyps...

Genetically heterogeneous impairment in the normal development and migration of GnRH neurons from the olfactory epithelium to the hypothalamus, leading to hypogonadotrophic hypogonadism and failure to...

Small-to-medium vessel vasculitis, most prominently affecting coronary arteries with multisystem inflammation.

X-linked absence or deficiency of HGPRT enzyme (HPRT1 gene) disrupts the purine salvage pathway, causing hyperuricemia as some purines cannot be recycled.

Mutation in 1 of 3 ENaC genes (SCNN1A, SCNN1B, and SCNN1G) producing over-activity of the ENaC channel of the kidney collecting tubules, even in the absence of mineralocorticoid signaling

Branched-chain ketoacid dehydrogenase deficiency impairs metabolism of leucine, isoleucine, and valine; these amino acids accumulate and cause neurologic dysfunction

Deficiency in the myophosphorylase enzyme (gene PYGM) impairs the ability to break down glycogen within muscle tissue specifically.

Sporadic variant (typically mosaic pattern) in GNAS1 gene causing constitutive activation of Gs-coupled receptors and excess cAMP production (leading to excess hormone production), affecting the bones...

A rare lysosomal storage disease, MLIII involves defective UPD-N-acetylglucosamine-1-phosphotransferase enzyme activity (affected genes include GNPTAB and GNPTG) leading to accumulation of mucopolysac...

Lysosomal storage disease caused by autosomal recessive mutation in the alpha-L-iduronidase (IDUA) gene; impairs ability to break down glycosaminoglycans, which then accumulate in lysosomes.

Lysosomal storage disease caused by X-linked mutation in the iduronate 2-sulfatase (IDS) gene; impairs ability to break down glycosaminoglycans, which then accumulate in lysosomes.

NT1 is a less common variant of narcolepsy driven by deficiency/loss of hypocretin-producing neurons in the lateral hypothalamus [

Variants in NF1 gene lead to nonfunctional neurofibrin protein (a tumor suppressor); leads to high rate of benign neurofibroma tumors and increased risk of malignant tumors.

Non-inherited disorder of sex chromosome anomaly caused by the presence of three extra X chromosomes in females.

lysosomal storage disorder resulting in glycogen accumulation in lysosomes; most heavily affects muscle of all types

Acquired Uroporphyrinogen decarboxylase (UROD) deficiency (less commonly inherited) leading to porphyrin accumulation in the skin, liver, and blood

inherited genetic defect in cilia structure; impairment of cilia affecting mainly airways, ears, reproductive organs

Caused by a deficiency of the liver peroxisomal enzyme alanine:glyoxylate-aminotransferase (AGT), which catalyzes the conversion of glyoxylate to glycine. When AGT activity is absent or reduced, glyox...

PSC is an immune-mediated inflammatory disease causing fibrosis of intra- and extra-hepatic bile ducts

Chronic autoimmune disorder heavily predominant in women which primarily targets the salivary and lacrimal glands, but is capable of causing systemic symptoms [

Inherited genetic defect in pyruvate carboxylase; impaired gluconeogenesis and Krebs/TCA cycle

inherited genetic defect in PDH complex; impaired conversion of pyruvate to acetyl-CoA for entry into Krebs/TCA cycle (cannot produce ATP through oxidative phosphorylation)

Deficiency in pyruvate kinase enzyme causing premature hemolysis of RBCs due to decreased ATP production

Bacterial infection with Coxiella burnetii, hosted mainly by cattle, sheep and goats; contracted by inhaling contaminated air or eating/drinking contaminated food.

chronic inflammatory neurological disease affecting one hemisphere of the brain, usually seen in children under 10

postpartum hypopituitarism; hypotension following postpartum hemorrhage causing ischemic pituitary necrosis

ABCA1 biallelic variants impair the body's ability to perform reverse cholesterol transport from cells to apolipoprotein A1, resulting in markedly low levels of HDL.

mostly in utero/newborn/infants but can be diagnosed as late as adulthood: Tissue attachments, often at the base of the spinal cord, limit its movement and cause stretch tension on the spinal cord.

Tetralogy of Fallot is a congenital cyanotic heart disease characterized by 4 key features: a ventricular septal defect (VSD); obstructed outflow of blood from the right ventricle to the lungs (pulmon...

Presence of an extra X chromosome in females, with varying severity of symptoms, more common with advanced maternal age (as with other nondisjunction disorders) [

UGDH mutation causing developmental delay, speech impairment, seizures, and intellectual disability

Inflammatory bowel disease characterized by chronic inflammation of the large intestine and rectum

Urachal cancer affects the urachus, which is responsible for draining the urinary bladder of the fetus. Among the 1/3 of adults who have remnants of the urachal tissue, some may develop cancer of this...

Urofacial syndrome is a rare inherited disorder resulting in an unusual facial expression and disorder of the urinary tract that causes retrograde urine flow. The problem can be present congenitally, ...

Rare cancer from the transitional layer of the bladder. Presents with hematuria, commonly among people with risk factors such as cigarette smoking, genetics, painkiller abuse, excessive coffee drinkin...

Chronic, reactive skin disorder in response to exposure to cold. Symptoms can last between 1 and 48 hours based on type. Familial type traced to chromosome 1q40. Other forms considered to be autoimmun...

Papular urticaria causes many papules that appear intermittently, triggered by allergic reactions to insects, drug sensitivity, or environmental causes.

Exposure to heat, cold, chemicals, or allergens such as plants cause erythematous allergic skin lesions and pruritis.

Rare genetic disorder resulting in sensorineural hearing loss and retinitis pigmentosa. Autosomal recessive inheritance pattern. Type 1 associated with mutations in MYO7A (USH1B), USH1C, CDH23, PCDH15...

Genetic disease due to autosomal dominant mutations in USP7 and a deletion in chromosome 16p13.2, causing developmental delay, autism, epilepsy, speech delay, and eye and gastrointestinal issues.

Deficiency in G6Pase (GSD Type 1a) or G6P transporter (GSD Type 1b) impairs terminal step in both glycogenolysis and gluconeogenesis preventing glycogen use and lowering blood glucose.

Rare genetic disorder characterized by excess copper stored in various body tissues, particularly the liver, brain, and corneas of the eyes.

Ultra-rare genetic condition with central and peripheral nervous system involvement caused by harmful mutations of the ZC4H2 gene.

Genetic disorders involving PEX genes, affecting peroxisome biogenesis; causes neurological, liver, and kidney dysfunction, with variable severity and autosomal recessive inheritance; prevalence 1 in ...

Rare disorder affecting 1-3 per million yearly; gastric hypersecretion from gastrinomas, often MEN1 gene linked, causing peptic ulcers.