MCID: CHL071
MIFTS: 32

Child Syndrome malady

Rare diseases category
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Summaries for Child Syndrome

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NIH Rare Diseases:42 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 based summary: 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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Child Syndrome, Aliases & Descriptions:

Name: Child Syndrome 42 62
Congenital Hemidysplasia with Ichthyosiform Nevus and Limb Defects 42
 
Ichthyosis, Child Syndrome 42


Classifications:

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


Related Diseases for Child Syndrome

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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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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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MalaCards organs/tissues related to Child Syndrome:

32
Skin, Brain, Heart, Kidney, Lung, Testes, Bone, Small intestine

Animal Models for Child Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Child Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.4NSDHL, GNPAT
2MP:00107687.7NSDHL, TOR1A, GNPAT, EBP

Publications for Child Syndrome

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Articles related to Child Syndrome:

(show all 36)
idTitleAuthorsYear
1
Significance of platelet function diagnostics for clarification of suspected battered child syndrome. (25382772)
2014
2
CHILD syndrome. (25201868)
2014
3
CHILD Syndrome: Effective Treatment of Ichthyosiform Naevus with Oral and Topical Ketoconazole. (24696032)
2014
4
The role of abnormalities in the distal pathway of cholesterol synthesis in the Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects (CHILD) syndrome. (24060582)
2014
5
CHILD syndrome with mild skin lesions: histopathologic clues for the diagnosis. (25093865)
2014
6
Small intestinal mucosal xanthoma in a patient with CHILD syndrome. (23969275)
2013
7
Vulnerable child syndrome, parental perception of child vulnerability, and emergency department usage. (22068058)
2011
8
CHILD syndrome: the NSDHL gene and its role in CHILD syndrome, a rare hereditary disorder. (19906044)
2010
9
'Munchausen syndrome by proxy' presenting as battered child syndrome: a report of two cases. (20618475)
2010
10
CHILD syndrome with thrombocytosis and congenital dislocation of hip: A case report from India. (20804683)
2010
11
Left-sided CHILD syndrome caused by a nonsense mutation in exon 7 of the NSDHL gene. (20605772)
2010
12
Late evolution of giant verruciform xanthoma in the setting of CHILD syndrome. (20796237)
2010
13
CHILD syndrome vs. unilateral psoriasis. (20618511)
2010
14
Optic nerve findings in CHILD syndrome. (20886807)
2010
15
Mild phenotypic expression of CHILD syndrome in two generations. (19614651)
2009
16
The vulnerable child syndrome. (19411339)
2009
17
Parenting style and the vulnerable child syndrome. (19930304)
2009
18
A novel silent mutation in the NSDHL gene causing CHILD syndrome as a result of aberrant splicing. (18764845)
2008
19
Brain and cerebellar hemidysplasia in a case with ipsilateral body dysplasia and suspicion of CHILD syndrome. (18825599)
2008
20
CHILD syndrome in 3 generations: the importance of mild or minimal skin lesions. (16549711)
2006
21
Stiff child syndrome with mutation of DYT1 gene. (16275837)
2005
22
CHILD syndrome caused by a deletion of exons 6-8 of the NSDHL gene. (16088165)
2005
23
CHILD syndrome avant la lettre. (14726863)
2004
24
Left-sided CHILD syndrome caused by a nonsense mutation in the NSDHL gene. (12966526)
2003
25
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
26
A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement. (11907515)
2002
27
Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome. (10710235)
2000
28
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
29
Systematized inflammatory epidermal nevus with symmetrical involvement: an unusual case of CHILD syndrome? (9146558)
1997
30
Peroxisomal abnormality in fibroblasts from involved skin of CHILD syndrome. Case study and review of peroxisomal disorders in relation to skin disease. (1519936)
1992
31
CHILD syndrome: lack of expression of epidermal differentiation markers in lesional ichthyotic skin. (1372340)
1992
32
The CHILD-syndrome--congenital hemidysplasia with ichthyosiform erythroderma and limb defects. A case report. (6203309)
1984
33
The CHILD syndrome. Congenital hemidysplasia with ichthyosiform erythroderma and limb defects. (7408908)
1980
34
Unusual bone involvement in congenital syphilis mimicking the battered child syndrome. (733400)
1978
35
Chylous ascites. Manifestation of the battered child syndrome. (1190167)
1975
36
Congenital syphilis mimicking the battered child syndrome. How does one tell them apart? (5028577)
1972

Variations for Child Syndrome

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Clinvar genetic disease variations for Child Syndrome:

6
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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Expression patterns in normal tissues for genes affiliated with Child Syndrome

Search GEO for disease gene expression data for Child Syndrome.

Pathways for genes affiliated with Child Syndrome

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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 biosynthesis37
lanosterol biosynthesis37
zymosterol biosynthesis37
mevalonate pathway I37
epoxysqualene biosynthesis37
cholesterol biosynthesis II (via 24,25-dihydrolanosterol)37
superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate)37
trans, trans-farnesyl diphosphate biosynthesis37
cholesterol biosynthesis I37
cholesterol biosynthesis III (via desmosterol)37
geranylgeranyldiphosphate biosynthesis37
9.3NSDHL, EBP
2
Show member pathways
8.8NSDHL, GNPAT, EBP

Compounds for genes affiliated with Child Syndrome

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Sources:
44Novoseek, 24HMDB
See all sources

Compounds related to Child Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
13beta-hydroxysteroid449.3NSDHL, EBP
2emopamil449.2NSDHL, EBP
3lathosterol44 2410.0NSDHL, EBP

GO Terms for genes affiliated with Child Syndrome

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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
  • Proteins
  • Lysates

Sources for Child Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet