Skeletal Defects, Genital Hypoplasia, and Mental Retardation malady

MalaCards: Skeletal Defects, Genital Hypoplasia, and Mental Retardation, also known as thyroid hormone plasma membrane transport defect, is related to thyroid hormone plasma membrane transport defect and branchial arch defects. An important gene associated with Skeletal Defects, Genital Hypoplasia, and Mental Retardation is ZBTB16 (zinc finger and BTB domain containing 16). Affiliated tissues include thyroid.

OMIM: 612447

skeletal defects, genital hypoplasia, and mental retardation 33 thyroid hormone plasma membrane transport defect 43

Diseases related to skeletal defects, genital hypoplasia, and mental retardation by text searches and GeneDecks gene sharing:

(show all 39)

id	Related Disease	Score	Top Affiliating Genes
1	thyroid hormone plasma membrane transport defect	9.7
2	branchial arch defects	8.3
3	overgrowth radial ray defect arthrogryposis	8.3
4	birth defects	8.3
5	patent foramen ovale	8.3
6	caudal regression syndrome	8.3
7	red cell phospholipid defect with hemolysis	8.3
8	chylomicron retention disease	8.3
9	reductional transverse limb defects	8.3
10	congenital heart defect	8.3
11	renal agenesis meningomyelocele mullerian defect	8.3
12	cortical defects wormian bones and dentinogenesis imperfecta	8.3
13	sacral defect with anterior meningocele	8.3
14	double outlet right ventricle	8.3
15	shoulder girdle defect mental retardation familial	8.3
16	defective apolipoprotein b-100	8.3
17	selective t-cell defect	8.3
18	hair defect with photosensitivity and mental retardation	8.3
19	thyroid hormone organification defect iia	8.3
20	heart defect, tongue hamartoma and polysyndactyly	8.3
21	thyroid hormonogenesis defect i	8.3
22	abdominal wall defect	8.3
23	hyperthermia induced defects	8.3
24	takayasu's arteritis	8.3
25	acro-pectoro-renal field defect	8.3
26	hay-wells syndrome	8.3
27	trigonomacrocephaly tibial defect polydactyly	8.3
28	allan-herndon-dudley syndrome	8.3
29	limb reduction defect	8.3
30	total iodide organification defect	8.3
31	ankle defects short stature	8.3
32	lateral body wall defect	8.3
33	urea cycle disorder	8.3
34	atrioventricular septal defect	8.3
35	laterality defects dominant	8.3
36	x-linked creatine deficiency	8.3
37	atrial heart septal defect	8.3
38	microcephaly brain defect spasticity hypernatremia	8.3
39	zap70-related severe combined immunodeficiency	8.3

Clinical features from OMIM: 612447

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to skeletal defects, genital hypoplasia, and mental retardation:

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Genes related to skeletal defects, genital hypoplasia, and mental retardation according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	ZBTB16	zinc finger and BTB domain containing 16	11.1	Disorders