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

Search for keywords:

LEGENDS (see explanations)

Key

AR: autosomal recessive; AD: autosomal dominant; X-linked: X-chromosome EN: 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 AD DGM
Adenosine deaminase deficiency 102700 AR MEN, OOA, APA
Adrenal hyperplasia II 201810 AR

APA

Adrenal hyperplasia IV 202010

AR

APA
Adrenal hyperplasia V 202110, 609300 AR DGM
Albinism, oculocerebrocutaneous syndrome, Cross type 257800

AR

MEN
Albinism, oculocutaneous, yellow mutant, type 1B 606952 AR OOA
Aldosterone deficiency I 203400 AR APA
Alpha-1 antitrypsin deficiency   107400613490 AR APA
Alstrom syndrome   203800 AR DGM
Amyotrophic lateral sclerosis 2, juvenile onset   205100 AR(?) APA
Androgen insensitivity syndrome  300068 X-linked HUT
Arthrogryposis, dysmyelinization, craniostenosis, cleft palate  201550 AR OOA
Ataxia-telangiectasia   208900 AR OOA, DGM
     
Bardet-Biedl syndrome 209900, 606151 AR APA
Bartter syndrome (Gitelman syndrome variant) 263800, 241200, 602023 AR OOA, MEN
Beaulieu-Boycott-Innes Syndrom; BBIS 613680 AR(?) HUT
3-Beta-Hydroxysteroid dehydrogenase deficiency 201810 AR (?) APA
Biotin (biotinidase) deficiency 253260, 253270 AR MEN
Bloom syndrome 210900 AR DGM
Bowen-Conradi syndrome 211180 AR HUT
Brittle hair syndrome, Amish type   234050 AR OOA
Byler disease   211600 AR APA
C      
Cardiomyopathy, dilated, with ataxia  610198 AR HUT, APA
Cardiomyopathy, hypertrophic 600958 AR OOA, DGM 
Carnitine palmitoyl transferase I deficiency  255120 AR HUT
Cartilage-hair hypoplasia 250250 AR OOA
Cataract, juvenile  212500 AR HUT
Cerebellar hypoplasia (VLDR-associated)   224050 AR HUT
Cerebro-osteo-nephrodysplasia 236450 AR HUT
Charcot-Marie-Tooth Disease 214400 AR OOA
Cholestasis, familial intrahepatic 211600 AR APA
Chorioretinopathy with microcephaly  251270 AR MEN
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 AR OOA
Congenital glaucoma 231300 AR OOA
Congenital hypothyroidism 218700 AR OOA
Congenital nephrotic syndrome, Finnish type   256300 AR MEN
Congenital nystagmus   310700 X-linked/AR/AD OOA
Congenital sodium diarrhea  270420 AR OOA
Congenital stationary night blindness, type 1A  310500 X-linked DGM
Congenital stationary night blindness, type 2A  300071 X-linked/AR/AD DGM
Cortical dysplasia-focal epilepsy syndrome   610042 AR APA
Corticosterone methyloxidase type I deficiency 203400 AR APA
Cortisol 11-beta-ketoreductase deficiency  218030 AR MEN
Crigler-Najjar syndrome Type I 218800 AR MEN
Cystic fibrosis 219700 AR OOA, DGM, MEN, HUT
Cystinosis 219800 AD (?) OOA
Cystinuria   220100 AR MEN
D      
Deafness, cochlear plus 221200 AR (?) APA
Deafness, non-syndromic recessive 220290 AR, AD, X-linked APA, MEN
Desmoid disease   135290 AD OOA
Diarrhea, congenital sodium  270420 AR OOA
Dystonia 1 128100 AD MEN
Dystonia 6 602629 AD MEN
E      
ECO syndrome 612651 AR OOA
Ellis-van Creveld syndrome 225500 AR OOA
Epidermolysis bullosa lethalis   226700 AR OOA
Episodic ataxia, type 3   606554 AD DGM
F      
Factor V Leiden heterozygosity 602319 AD OOA
Familial dysalbuminemic hyperthyroxinemia 103600 AD OOA
G      
Gilles de la Tourette syndrome 137580 AD DGM
Gitelman syndrome (variant of Bartter syndrome) 263800 AR OOA, MEN
Glutaric aciduria type 1 231670 AR APA
Glycogen storage disease, type 6 232700 AR MEN
GM3 synthase deficiency 609056 AR OOA
H      
Hairy elbows 139600 AD APA
Hallervorden-Spatz disease 234200, 606157 AR OOA
Hemophagocytic lymphohistocytosis 1 267700 AR DGM
Hemophilia B – factor IX deficiency 306900 X-linked OOA
Hereditary non-polyposis colon cancer 120435, 609310 AD DGM
Hirschprung diseases, susceptibility to 277580, 600155  AR(?) MEN
Homocystinuria (MTHFR type) 236200, 236250  AR APA
Hypercholanemia, familial 607748 AR, AD APA
Hypertrichiasis cubiti, familial 139600 AD APA
Hypertrophic cardiomyopathy 600958 AR OOA, DGM
Hypophosphatasia 241500 AR DMG, HUT
Hypothyroidism, congenital 218700 AR(?) OOA
I      
Immunodeficiency, neutropenic
610798 AR MEN
Infantile Refsum disease 266510 AR OOA
ITCH Autoimmune Disease 613385 AR OOA
J      
Jackson-Weiss syndrome 123150 AD OOA
Jervell and Lange-Nielsen syndrome 220400 AR, AD OOA
Joubert syndrome (JSRD) 213300 AR HUT
K      
Kabuki syndrome 147920 ? OOA
L      
Leigh syndrome 256000 mitochondrial, AR DGM, HUT
Limb-girdle muscular dystrophy, type 2A 253600 AR OOA
Limb-girdle muscular dystrophy, type 2E 604286 AR OOA
Limb-girdle muscular dystrophy, type 2H 254110 AR HUT
Limb-girdle muscular dystrophy, type 2I 607155 AR HUT
Long QT interval 220400 AR OOA
LYK5 deficiency 611087 AR MEN
M      
Malignant hyperthermia, susceptibility to 145600 AD DGM
Maple syrup urine disease 248600 AR MEN
Mast syndrome 248900 AR OOA
MCADH, MCAD, ACADM 201450 AR MEN
MCCC2 deficiency 210210 AR APA, MEN
Medium-chain acyl-CoA dehydrogenase deficiency 201450 AR MEN
McKusick-Kauffman syndrome 236700 AR OOA
3-Methylcrotonyl-CoA carboxylase 2 deficiency 210210 AR APA, MEN
Methylmalonic aciduria 251000 AR HUT
Mevalonate kinase deficiency 251170 AR MEN
Microcephalic osteodysplastic primordial dwarfism 210710, 210720, 210730 AR(?) OOA
Microcephaly, Amish type 607196 AR APA
Mitochondrial DNA depletion syndrome 609560 AR DGM
Moyamoya disease 1 252350  ? OOA
Mucopolysaccharidosis, type VII 253220 AR MEN
Muscular dystrophy, limb girdle, type 2A 253600 AR OOA
Muscular dystrophy, limb girdle, type 2E 604286 AR OOA
Muscular dystrophy, limb girdle, type 2H 254110 AR HUT
Muscular dystrophy, limb girdle, type 2I 607155 AR HUT
N      
Nanophthalmos 609549 AR MEN
Nemaline myopathy 5 (Amish type) 605355 AR OOA
Neutropenic immunodeficiency, plus 610798 AR MEN
O      
Oculo-reno-cerebellar sydrome
257970 AR(?) DGM
Oculocerebrocutaneous syndrome with hypopigmentation, Cross type 257800 AR MEN
Omenn syndrome 603554 AR OOA
Osteodysplastic primordial dwarfism 210710, 210720, 210730 AR(?) OOA
Osteogenesis imperfecta, type I 166200 AD APA
Osteopenia and sparse hair 259690 AR(?) MEN
Osteoporosis-pseudoglioma syndrome 259770 AR MEN
P      
Pantothenate kinase 2 234200, 606157 AR OOA
Phenylketonuria 261600, 261630 AR APA, OOA, MEN
Pierson Syndrome 609040 AR APA
Pituitary dwarfism III 262600 AR HUT
Plasminogen activator inhibitor-1 deficiency 173360 AR OOA
Polycystic kidney disease 608002 AR OOA
Prolidase deficiency 170100 AR OOA
Propionic acidemia 606054 AR OOA, MEN
Protease inhibitor 1 107400 AR APA
Pyruvate kinase deficiency 266200 AR OOA
Q      
R      
Renpenning syndrome 1  309500 X-linked DGM
Restrictive dermopathy 275210 AR DGM, HUT
Retinitis Pigmentosa with Ataxia  609033 AR MEN
S      
Salla disease 604369 AR MEN
Senior-Loken syndrome 1   266900 AR OOA, MEN
Severe combined immunodeficiency (ADA deficiency) (T-, B-, NK-)  102700 AR MEN, OOA, APA
Severe combined immunodeficiency (CD3D) (T-, B+, NK+) 608971 AR DGM, APA
Severe combined immunodeficiency (Omenn syndrome) (T+, B-, NK+) 603554 AR APA
Severe combined immunodeficiency (Swiss type) (T-, B-, NK+) 601457 AR DGM
Sitosterolemia 210250 AR APA
Spastic Ataxia 4, mtPAP deficiency   613669 AR OOA
Spinal muscular atrophy, type 1   253300 AR APA, MEN, HUT
Spondylocostal dysostosis   271520 AR(?) MEN
Sudden infant death with dysgenesis of the testes   608800 AR OOA
Synpolydactyly 1   186000 AD OOA
T      
Thrombasthenia, Glanzmann 273800 AR HUT
Thyroid hormone dysgenesis 1  274400 AR HUT
Thyroid oxidase deficiency, 2A 274500 AR OOA
Tight skin contracture syndrome 275210 AR DGM, HUT
TMCO1 defect syndrome  213980, 614123 AR APA, OOA
Trichothiodystrophy, nonphotosensitive 1  234050 AR OOA
Troyer syndrome 275900 AR OOA
Tyrosinemia, type III 276710 AR MEN
U      
Usher syndrome 602083, 276900, 614504 AR HUT, APA
V      
Von Willebrand disease 193400  AD/AR OOA
W      
Waardenburg-Shah syndrome 600155, 277580 AR(?) MEN
Weill-Marchesani syndrome 277600, 608328 AR APA
Werdnig-Hoffmann disease 253300 AR APA, MEN, HUT

X

     
Y      
Z