Single Gene Disorders

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

LEGENDS (see explanations)

AR: autosomal recessive;   AD: autosomal dominant;   X-linked: X-chromosome

MEN: General Swiss-German Mennonites;    OOA: Old Order Amish;    APA: Old Order Amish, Eastern Pennsylvania;    DGM: Dutch-German Mennonites;    HUT: Hutterites

 Click on title for description

CONDITIONOMIMINHERITANCEPOPULATION
A 

Adenomatous polyposis of the colon

#175100

ADDGM

Adenosine deaminase deficiency

#102700

ARMEN, OOA, APA

Adrenal hyperplasia II

+201810

ARAPA

Adrenal hyperplasia IV

#202010

ARAPA

Adrenal hyperplasia V

#202110, *609300

ARDGM

Albinism, oculocerebrocutaneous syndrome, Cross type

%257800

AR(?)MEN

Albinism, oculocutaneous, yellow mutant, type 1B

#606952

AROOA

Aldosterone deficiency I

#203400

ARAPA

Alpha-1 antitrypsin deficiency

+107400

ARAPA

Alstrom syndrome

#203800

ARDGM

Amyotrophic lateral sclerosis 2, juvenile onset

#205100

AR(?)APA

Androgen insensitivity syndrome

#300068

X-linkedHUT

Arthrogryposis, dysmyelinization, craniostenosis, cleft palate

%201550

AROOA

Ataxia-telangiectasia

#208900

AROOA, DGM
B 

Bardet-Biedl syndrome

#209900

ARAPA

Bartter syndrome (Gitelman syndrome variant)

#263800

AROOA, MEN

3-Beta-Hydroxysteroid dehydrogenase deficiency

+201810

AR(?)APA

Biotin (biotinidase) deficiency

#253260, #253270

ARMEN

Bloom syndrome

#210900

ARDGM

Bowen-Conradi syndrome

%211180

ARHUT

Brittle hair syndrome, Amish type

#234050

AROOA

Byler disease

#211600

ARAPA
C 

Cardiomyopathy, dilated, with ataxia

#610198

ARHUT, APA

Cardiomyopathy, hypertrophic

*600958

AROOA, DGM

Carnitine palmitoyl transferase I deficiency

#255120

ARHUT

Cartilage-hair hypoplasia

#250250

ARAPA

Cataract, juvenile

%212500

ARHUT

Cerebellar hypoplasia (VLDR-associated)

#224050

ARHUT

Cerebro-osteo-nephrodysplasia

236450

ARHUT

Charcot-Marie-Tooth Disease

#214400

AROOA

Cholestasis, familial intrahepatic

#211600

ARAPA

Chudley-McCullough syndrome

%604213

AR(?)
DGM

Cleft palate with ankyloglossia

#303400

X-linked
DGM

Cleidocranial dysostosis

#119600


AD

MEN

CODAS syndrome

600373

AR?DGM

Cohen syndrome

#216550

AROOA

Congenital glaucoma

#231300

AROOA

Congenital hypothyroidism

#218700

AR?OOA

Congenital nephrotic syndrome, Finnish type

#256300

ARMEN

Congenital nystagmus

#310700

X-linked/AR/ADOOA

Congenital sodium diarrhea

#270420

AROOA

Congenital stationary night blindness, type 1A

#310500

X-linkedDGM

Congenital stationary night blindness, type 2A

#300071

X-linkedDGM

Cortical dysplasia-focal epilepsy syndrome

#610042

ARAPA

Corticosterone methyloxidase type I deficiency

#203400

ARAPA

Cortisol 11-beta-ketoreductase deficiency

+218030

ARMEN

Crigler-Najjar syndrome Type I

#218800

ARMEN

Cystic fibrosis

#219700

AROOA, DGM, MEN, HUT

Cystinosis

#219800

AD(?)OOA

Cystinuria

#220100

ARMEN
D 

Deafness, cochlear plus

#221200

AR(?)APA

Deafness, non-syndromic recessive

#220290

ARAPA, MEN

Desmoid disease

#135290

ADOOA

Diarrhea, congenital sodium

#270420

AROOA

Dystonia 1

#128100

ADMEN

Dystonia 6

#602629

ADMEN
E 

ECO syndrome

PendingAROOA

Ellis-van Creveld syndrome

#225500

ARAPA

Epidermolysis bullosa lethalis

#226700

AROOA

Episodic ataxia, type 3

#606554

ADDGM
F

Factor V Leiden heterozygosity

*602319

ADOOA

Familial dysalbuminemic hyperthyroxinemia

+103600

ADOOA
G 

Gilles de la Tourette syndrome

#137580

ADDGM

Gitelman syndrome (variant of Bartter syndrome )

#263800

AROOA, MEN

Glutaric aciduria type 1

#231670

ARAPA

Glycogen storage disease, type 6

+232700

ARMEN

GM3 synthase deficiency

#609056

AROOA
H 

Hairy elbows

%139600

ADAPA

Hallervorden-Spatz disease

#234200, #606157

AROOA

Hemophagocytic lymphohistocytosis 1

%267700

ARDGM

Hemophilia B – factor IX deficiency

#306900

X-linkedOOA

Hereditary non-polyposis colon cancer

*120435

ADDGM

Hirschprung diseases, susceptibility to

#277580, #600155

AR(?)MEN

Homocystinuria (MTHFR type)

+236200, #236250

ARAPA

Hutterite malformation syndrome

PendingAR(?)Hut

Hypercholanemia, familial

#607748

ARAPA

Hypertrichiasis cubiti, familial

%139600

ADAPA

Hypertrophic cardiomyopathy

*600958

AROOA, DGM

Hypophosphatasia

#241500

ARDGM, HUT

Hypothyroidism, congenital

#218700

AR?OOA
I 

Immunodeficiency, neutropenic

#610798

ARMEN

Infantile Refsum disease

#266510

AROOA

ITCH Autoimmune Disease

#613385

AROOA
J 

Jackson-Weiss syndrome

#123150

ADOOA

Jervell and Lange-Nielsen syndrome

#220400

AROOA

Joubert syndrome (JSRD)

%213300

ARHUT
K 

Kabuki syndrome

#147920

?OOA
L 

Leigh syndrome

#256000

mitochondrialDGM, HUT

Limb-girdle muscular dystrophy, type 2A

#253600

AROOA

Limb-girdle muscular dystrophy, type 2E

#604286

AROOA

Limb-girdle muscular dystrophy, type 2H

#254110

ARHUT

Limb-girdle muscular dystrophy, type 2I

#607155

ARHUT

Long QT interval

#220400

AROOA

LYK5 deficiency

#611087

ARMEN
M 

Malignant hyperthermia, susceptibility to

#145600

ADDGM

Maple syrup urine disease

#248600

ARMEN

Mast syndrome

#248900

AROOA

MCADH, MCAD, ACADM

#201450

ARMEN

MCCC2 deficiency

#210210

ARAPA, MEN

Medium-chain acyl-CoA dehydrogenase deficiency

#201450

ARMEN

McKusick-Kauffman syndrome

#236700

ARAPA

3-Methylcrotonyl-CoA carboxylase 2 deficiency

#210210

ARAPA, MEN

Methylmalonic aciduria

#251000

ARHUT

Mevalonate kinase deficiency

*251170

 MEN

Microcephalic osteodysplastic primordial dwarfism

%210710, #210720, %210730

AR(?)OOA

Microcephaly, Amish type

#607196

ARAPA

Mitochondrial DNA depletion syndrome

#609560

ARDGM

Moyamoya disease 1

%252350

?OOA

Mucopolysaccharidosis, type VII

#253220

ARMEN

Muscular dystrophy, limb girdle, type 2A

#253600

AROOA

Muscular dystrophy, limb girdle, type 2E

#604286

AROOA

Muscular dystrophy, limb girdle, type 2H

#254110

ARHUT

Muscular dystrophy, limb girdle, type 2I

#607155

ARHUT
N

Nanophthalmos

#609549

ARMEN

Nemaline myopathy 5 (Amish type)

#605355

AROOA

Neutropenic immunodeficiency, plus

#610798

ARMEN
O 

Oculo-reno-cerebellar sydrome

%257970

AR(?)DGM

Oculocerebrocutaneous syndrome with hypopigmentation, Cross type

%257800

ARMEN

Omenn syndrome

#603554

AROOA

Osteodysplastic primordial dwarfism

%210710, #210720, %210730

AR(?)OOA

Osteogenesis imperfecta, type I

#166200

ADAPA

Osteopenia and sparse hair

#259690

AR(?)MEN

Osteoporosis-pseudoglioma syndrome

#259770

ARMEN
P 

Pantothenate kinase 2

#234200,

#606157

AROOA

Phenylketonuria

#261600

ARAPA, OOA, MEN

Pituitary dwarfism III

#262600

ARHUT

Plasminogen activator inhibitor-1 deficiency

*173360

AROOA

Polycystic kidney disease

Pending

AROOA

Prolidase deficiency

+170100

AROOA

Propionic acidemia

#606054

AROOA

Protease inhibitor 1

+107400

ARAPA

Pyruvate kinase deficiency

#266200

AROOA
R 

Renpenning syndrome 1

#309500

X-linkedDGM

Restrictive dermopathy

#275210

ARDGM, HUT
S 

Salla disease

#604369

ARMEN

Senior-Loken syndrome 1

#266900

AROOA, MEN

Severe combined immunodeficiency (ADA deficiency) (T-, B-, NK-)

#102700

ARMEN, OOA, APA

Severe combined immunodeficiency (CD3D) (T-, B+, NK+)

#608971

AR

DGM, APA

Severe combined immunodeficiency (Omenn syndrome) (T+, B-, NK+)

#603554

ARAPA

Severe combined immunodeficiency (Swiss type) (T-, B-, NK+)

 #601457

AR

DGM

Sitosterolemia

#210250

ARAPA

Spinal muscular atrophy, type 1

#253300

ARAPA, MEN

Spondylocostal dysostosis

271520

AR(?)MEN

Sudden infant death with dysgenesis of the testes

#608800

AROOA

Synpolydactyl 1

#186000

ADOOA
T 

Thrombasthenia, Glansmann

#273800

ARHUT

Thyroid hormone dysgenesis 1

#274400

ARHUT

Thyroid oxidase deficiency, 2A

#274500

AROOA

Tight skin contracture syndrome

#275210, *606480

ARDGM, HUT

TMCO1 defect syndrome

pendingAR APA, OOA

Trichothiodystrophy, nonphotosensitive 1

#234050

AR

OOA

Troyer syndrome

#275900

AROOA

Tyrosinemia, type III

#276710

ARMEN
U

Usher syndrome, type 1F

#602083

ARHUT
V 

von Willebrand disease

+193400

AD/AROOA
W 

Waardenburg-Shah syndrome

#600155, #277580

AR (?)MEN

Weill-Marchesani syndrome

#277600, #608328

ARAPA
 X

 

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