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 

Adducted thumb syndrome

201550

AR OOA

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

ARMEN

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

AROOA

Cataract, juvenile

212500

ARHUT

Cerebellar hypoplasia (VLDR-associated)

224050

ARHUT

Cerebro-osteo-nephrodysplasia

236450

AR

HUT

Charcot-Marie-Tooth Disease

214400

AROOA

Cholestasis, familial intrahepatic

211600

ARAPA

Chorioretinopathy with microcephaly

25170

ARMEN

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

612651

AROOA

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

613680

AR(?)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

Pierson Syndrome

609040

AR APA

Pituitary dwarfism III

262600

ARHUT

Plasminogen activator inhibitor-1 deficiency

173360

AROOA

Polycystic kidney disease

608002

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

Retinitis Pigmentosa with Ataxia

609033

ARMEN

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

Spastic Ataxia 4, mtPAP deficiency

613669

 AROOA

Spinal muscular atrophy, type 1

253300

ARAPA, MEN, HUT

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

ARDGM, HUT

TMCO1 defect syndrome

614132

AR APA, OOA

Trichothiodystrophy, nonphotosensitive 1

234050

AR

OOA

Troyer syndrome

275900

AROOA

Tyrosinemia, type III

276710

ARMEN
U

Usher syndrome

602083, 276900, 614504

ARHUT, APA
V 

von Willebrand disease

193400

AD/AROOA
W 

Waardenburg-Shah syndrome

600155, 277580

AR (?)MEN

Weill-Marchesani syndrome

277600, 608328

ARAPA

Werdnig-Hoffmann disease

253300

ARAPA, MEN, HUT
 X

 

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