Child Syndrome malady

MalaCards: Child Syndrome, also known as congenital hemidysplasia with ichthyosiform nevus and limb defects, is related to children's interstitial lung disease and smith-lemli-opitz syndrome. An important gene associated with Child Syndrome is NSDHL (NAD(P) dependent steroid dehydrogenase-like), and among its related pathways are Steroid biosynthesis and Metabolism of lipids and lipoproteins. The compounds 3beta-hydroxysteroid and emopamil have been mentioned in the context of this disorder. Affiliated tissues include brain and skin, and related mouse phenotypes are pigmentation and mortality/aging.

child syndrome 7 30 43 congenital hemidysplasia with ichthyosiform nevus and limb defects 30 ichthyosiform erythroderma, congenital 43

ichthyosis, child syndrome 30 neonatal hemochromatosis 43

Diseases related to child syndrome by text searches and GeneDecks gene sharing:

(show top 50)    (show all 137)

id	Related Disease	Score	Top Affiliating Genes
1	children's interstitial lung disease	27.7	EBP, NSDHL, GNPAT, TOR1A
2	smith-lemli-opitz syndrome	12.5	NSDHL, EBP
3	rhizomelic chondrodysplasia punctata	12.1	EBP, GNPAT
4	chondrodysplasia punctata	12.1	EBP, GNPAT
5	chondrodysplasia	12.0	GNPAT, EBP
6	endocarditis	12.0	EBP, NSDHL
7	cataract	12.0	EBP, GNPAT
8	ichthyosis	11.9	EBP, GNPAT
9	chondrodysplasia punctata 2 x-linked dominant	11.7	NSDHL, EBP, GNPAT
10	neonatal hemochromatosis	9.2
11	autosomal recessive congenital ichthyosis	8.5
12	ichthyosiform erythroderma, corneal involvement, deafness	7.6
13	hemochromatosis	7.3
14	charcot-marie-tooth disease type 1	5.9
15	congenital cataracts, facial dysmorphism, and neuropathy	5.9
16	congenital contractures	5.9
17	congenital pseudoarthrosis	5.9
18	congenital myopathy, undefined/nonspecific	5.9
19	hereditary sensory neuropathy	5.9
20	multiple congenital anomalies mental retardation, growth failure and cleft lip palate	5.9
21	tubb3-related congenital fibrosis of the extraocular muscles	5.9
22	coloboma	5.9
23	congenital fiber-type disproportion	5.9
24	congenital craniosynostosis maternal hyperthyroiditis	5.9
25	congenital short femur	5.9
26	congenital plasminogen deficiency	5.9
27	hereditary sensory and autonomic neuropathy iv	5.9
28	mongolian spot	5.9
29	tpm3-related congenital fiber-type disproportion	5.9
30	clubfoot	5.9
31	congenital fibrosis of the extraocular muscles	5.9
32	congenital cystic eye	5.9
33	congenital stenosis of cervical medullary canal	5.9
34	congenital heart defects, nonsyndromic, 1, x-linked	5.9
35	hereditary congenital facial paresis	5.9
36	myopathy congenital	5.9
37	weill-marchesani syndrome	5.9
38	congenital bile acid synthesis defect	5.9
39	congenital stromal corneal dystrophy	5.9
40	congenital cystic eye multiple ocular and intracranial anomalies	5.9
41	congenital torticollis	5.9
42	cap myopathy	5.9
43	hereditary congenital ptosis	5.9
44	mayer-rokitansky-kuster-hauser syndrome	5.9
45	x-linked adrenal hypoplasia congenita	5.9
46	congenital epulis	5.9
47	congenital absence of the sternocleidomastoid muscle	5.9
48	congenital cytomegalovirus	5.9
49	congenital tracheomalacia	5.9
50	coronary artery anomaly	5.9

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to child syndrome:

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MGI Mouse Phenotypes related to child syndrome:

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id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	pigmentation phenotype	MP:0001186	9.1	GNPAT, NSDHL
2	mortality/aging	MP:0010768	7.7	GNPAT, TOR1A, NSDHL, EBP

Articles related to child syndrome:

(show all 11)

id	Title	Authors	Year	Affiliating Genes
1	CHILD syndrome: the NSDHL gene and its role in CHILD syndrome, a rare hereditary disorder. (19906044)	Avgerinou G.P.... Happle R.	2010	NSDHL
2	Brain and cerebellar hemidysplasia in a case with ipsilateral body dysplasia and suspicion of CHILD syndrome. (18825599)	Schmidt-Sidor B.... Stepien T.	2008	NSDHL
3	CHILD syndrome in 3 generations: the importance of mild or minimal skin lesions. (16549711)	Bittar M.... Konig A.	2006	NSDHL
4	Stiff child syndrome with mutation of DYT1 gene. (16275837)	Wong V.C.... Fung C.W.	2005	TOR1A
5	CHILD syndrome caused by a deletion of exons 6-8 of the NSDHL gene. (16088165)	Kim C.A.... Grzeschik K.H.	2005	NSDHL
6	CHILD syndrome avant la lettre. (14726863)	Bittar M.... Happle R.	2004	NSDHL
7	Left-sided CHILD syndrome caused by a nonsense mutation in the NSDHL gene. (12966526)	Hummel M.... Herman G.E.	2003	NSDHL
8	A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement. (11907515)	Konig A.... Grzeschik K.H.	2002	NSDHL
9	The Conradi-Hunermann-Happle syndrome is caused by mutations in the gene that encodes a 8- 7 sterol isomerase and is biochemically related to the CHILD syndrome. (10980461)	Traupe H.... Has C.	2000	EBP
10	Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome. (10710235)	Konig A.... Grzeschik K.H.	2000	NSDHL, EBP
11	Peroxisomal abnormality in fibroblasts from involved skin of CHILD syndrome. Case study and review of peroxisomal disorders in relation to skin disease. (1519936)	Emami S.... Williams M.L.	1992	GNPAT

Genes related to child syndrome according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	NSDHL	NAD(P) dependent steroid dehydrogenase-like	11.1	Publications, Summaries
2	EBP	emopamil binding protein (sterol isomerase)	11.0	Publications
3	GNPAT	glyceronephosphate O-acyltransferase	11.0	Publications
4	TOR1A	torsin family 1, member A (torsin A)	11.0	Publications

Pathways related to child syndrome according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Steroid biosynthesis20	9.0	NSDHL, EBP
2	Metabolism of lipids and lipoproteins38	8.5	GNPAT, NSDHL, EBP

Compounds related to child syndrome according to GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	3beta-hydroxysteroid32	9.3	NSDHL, EBP
2	emopamil32	9.2	NSDHL, EBP
3	lathosterol32 18	10.0	NSDHL, EBP

Cellular components related to child syndrome according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	endoplasmic reticulum	GO:005783	8.8	TOR1A, NSDHL, EBP

Biological processes related to child syndrome according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	cholesterol biosynthetic process	GO:006695	9.0	NSDHL, EBP
2	small molecule metabolic process	GO:044281	8.5	GNPAT, NSDHL, EBP