MCID: CHL071
MIFTS: 29

Child Syndrome malady

Rare diseases category
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Summaries for Child Syndrome

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43NIH Rare Diseases, 33MalaCards
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NIH Rare Diseases:43 Child syndrome, also known as congenital hemidysplasia with ichthyosiform erythroderma and limb defects, is a genetic condition that is typically characterized by large patches of skin that are red and inflamed (erythroderma) and covered with flaky scales (ichthyosis) and limb underdevelopment or absence. the development of organs such as the brain, heart, lungs, and kidneys may also be affected. several cases in which milder signs and symptoms have been reported in the medical literature. the condition is caused by mutations in the nsdhl gene, a gene that provides instructions for the production of an enzyme involved in the making of cholesterol. child syndrome is inherited in an x-linked dominant fashion and is almost exclusively found in females. last updated: 1/28/2010

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 superpathway of cholesterol biosynthesis and Metabolism. The compounds 3beta-hydroxysteroid and emopamil have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and heart, and related mouse phenotypes are pigmentation and mortality/aging.

Aliases & Classifications for Child Syndrome

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43NIH Rare Diseases, 62UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases


Aliases & Descriptions:

child syndrome 43 62
congenital hemidysplasia with ichthyosiform nevus and limb defects 43
ichthyosis, child syndrome 43


Related Diseases for Child Syndrome

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Child Syndrome:



Diseases related to child syndrome

Symptoms for Child Syndrome

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Drugs & Therapeutics for Child Syndrome

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Child Syndrome

Search NIH Clinical Center for Child Syndrome

Genetic Tests for Child Syndrome

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Anatomical Context for Child Syndrome

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33MalaCards
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MalaCards organs/tissues related to Child Syndrome:

33
Skin, Brain, Heart, Kidney, Lung, Testes, Bone

Animal Models for Child Syndrome or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Child Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.4NSDHL, GNPAT
2MP:00107687.7NSDHL, TOR1A, GNPAT, EBP

Publications for Child Syndrome

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52PubMed
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Articles related to Child Syndrome:

(show all 18)
idTitleAuthorsYear
1
CHILD syndrome: the NSDHL gene and its role in CHILD syndrome, a rare hereditary disorder. (19906044)
2010
2
CHILD syndrome with thrombocytosis and congenital dislocation of hip: A case report from India. (20804683)
2010
3
Brain and cerebellar hemidysplasia in a case with ipsilateral body dysplasia and suspicion of CHILD syndrome. (18825599)
2008
4
CHILD syndrome in 3 generations: the importance of mild or minimal skin lesions. (16549711)
2006
5
Stiff child syndrome with mutation of DYT1 gene. (16275837)
2005
6
CHILD syndrome caused by a deletion of exons 6-8 of the NSDHL gene. (16088165)
2005
7
CHILD syndrome avant la lettre. (14726863)
2004
8
Left-sided CHILD syndrome caused by a nonsense mutation in the NSDHL gene. (12966526)
2003
9
Factor XIII deficiency mistaken for battered child syndrome: case of "correct" test ordering negated by a commonly accepted qualitative test with limited negative predictive value. (12447966)
2002
10
A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement. (11907515)
2002
11
Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome. (10710235)
2000
12
The Conradi-HA1nermann-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)
2000
13
Systematized inflammatory epidermal nevus with symmetrical involvement: an unusual case of CHILD syndrome? (9146558)
1997
14
Peroxisomal abnormality in fibroblasts from involved skin of CHILD syndrome. Case study and review of peroxisomal disorders in relation to skin disease. (1519936)
1992
15
CHILD syndrome: lack of expression of epidermal differentiation markers in lesional ichthyotic skin. (1372340)
1992
16
Unusual bone involvement in congenital syphilis mimicking the battered child syndrome. (733400)
1978
17
Chylous ascites. Manifestation of the battered child syndrome. (1190167)
1975
18
Congenital syphilis mimicking the battered child syndrome. How does one tell them apart? (5028577)
1972

Variations for Child Syndrome

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Child Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1NSDHLNM_001129765.1(NSDHL): c.314C> T (p.Ala105Val)single nucleotide variantPathogenicrs104894909GRCh37Chr X, 152027360: 152027360
2NSDHLNM_001129765.1(NSDHL): c.613G> A (p.Gly205Ser)single nucleotide variantPathogenicrs104894901GRCh37Chr X, 152034432: 152034432
3NSDHLNM_001129765.1(NSDHL): c.628C> T (p.Gln210Ter)single nucleotide variantPathogenicrs104894902GRCh37Chr X, 152034447: 152034447
4NSDHLNM_001129765.1(NSDHL): c.262C> T (p.Arg88Ter)single nucleotide variantPathogenicrs104894903GRCh37Chr X, 152018962: 152018962
5NSDHLNM_001129765.1(NSDHL): c.544G> C (p.Ala182Pro)single nucleotide variantPathogenicrs104894904GRCh37Chr X, 152034363: 152034363
6NSDHLNM_001129765.1(NSDHL): c.451G> T (p.Glu151Ter)single nucleotide variantPathogenicrs104894905GRCh37Chr X, 152031176: 152031176
7NSDHLNM_001129765.1(NSDHL): c.1046A> G (p.Tyr349Cys)single nucleotide variantPathogenicrs137853863GRCh37Chr X, 152037584: 152037584
8NSDHLNM_001129765.1(NSDHL): c.370G> A (p.Gly124Ser)single nucleotide variantPathogenicrs137853862GRCh37Chr X, 152027416: 152027416

Expression for genes affiliated with Child Syndrome

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Child Syndrome

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Pathways for genes affiliated with Child Syndrome

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50PathCards, 38NCBI BioSystems Database, 55Reactome, 30KEGG
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Pathways related to Child Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Cholesterol biosynthesis38
lanosterol biosynthesis38
zymosterol biosynthesis38
mevalonate pathway I38
epoxysqualene biosynthesis38
cholesterol biosynthesis II (via 24,25-dihydrolanosterol)38
superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate)38
trans, trans-farnesyl diphosphate biosynthesis38
cholesterol biosynthesis I38
cholesterol biosynthesis III (via desmosterol)38
geranylgeranyldiphosphate biosynthesis38
9.3NSDHL, EBP
2
Show member pathways
8.8NSDHL, GNPAT, EBP

Compounds for genes affiliated with Child Syndrome

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45Novoseek, 24HMDB
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Compounds related to Child Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
13beta-hydroxysteroid459.3NSDHL, EBP
2emopamil459.2NSDHL, EBP
3lathosterol45 2410.0NSDHL, EBP

GO Terms for genes affiliated with Child Syndrome

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16Gene Ontology
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Cellular components related to Child Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1intracellular membrane-bounded organelleGO:0432319.1NSDHL, TOR1A
2endoplasmic reticulumGO:0057838.2NSDHL, TOR1A, EBP

Biological processes related to Child Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cholesterol biosynthetic processGO:0066959.0NSDHL, EBP
2small molecule metabolic processGO:0442818.8NSDHL, GNPAT, EBP

Products for genes affiliated with Child Syndrome

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  • Antibodies
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Sources for Child Syndrome

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet