Details of Disease | DrugMAP

General Information of Disease (ID: DIS9F5U7)

Disease Name	CHILD syndrome
Synonyms	ichthyosiform erythroderma, unilateral, with ipsilateral malformations, especially absence deformity of limbs; ichthyosis, child syndrome; congenital hemidysplasia with ichthyosiform nevus and limb defects; congenital hemidysplasia with ichthyosiform erythroderma and limb defects; child nevus; Ichthyosis, CHILD Syndrome; child syndrome; congenital hemidysplasia with ichthyosiform nevus and limbs defects; CHILD syndrome, X-linked dominant; CHILD syndrome
Definition	CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.
Disease Hierarchy	DISERVGO: Chondrodysplasia punctata DISYS32D: Melanocytic nevus DISPGGVL: Syndromic dyslipidemia DISIVONC: X-linked ichthyosis syndrome DISEK84G: Bone benign neoplasm DISD0WVL: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability DIS8I9FS: Hereditary disorder of connective tissue DIS91IFI: Sterol biosynthesis disorder DISSCALK: Hereditary skin disorder DIS9F5U7: CHILD syndrome
Disease Identifiers	MONDO ID MONDO_0010621 MESH ID C562515 UMLS CUI C0265267 OMIM ID 308050 MedGen ID 82697 Orphanet ID 139 SNOMED CT ID 17608003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
FDFT1	TTFQEO5	Strong	Biomarker	[1]
TOR1A	TTF85KW	Strong	Genetic Variation	[2]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
DHCR7	DEL7GFA	Strong	Genetic Variation	[3]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HSDL1	OTPDMCC4	Limited	Genetic Variation	[4]
NSDHL	OTK3EJFD	Definitive	X-linked	[5]
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References

1	Genetic disorders of cholesterol biosynthesis in mice and humans.Mol Genet Metab. 2001 Sep-Oct;74(1-2):105-19. doi: 10.1006/mgme.2001.3226.
2	Stiff child syndrome with mutation of DYT1 gene.Neurology. 2005 Nov 8;65(9):1465-6. doi: 10.1212/01.wnl.0000183153.82651.72.
3	RSH (so-called Smith-Lemli-Opitz) syndrome.Curr Opin Pediatr. 1999 Aug;11(4):353-62. doi: 10.1097/00008480-199908000-00015.
4	CHILD syndrome: A modified pathogenesis-targeted therapeutic approach.Am J Med Genet A. 2018 Mar;176(3):733-738. doi: 10.1002/ajmg.a.38619. Epub 2018 Feb 2.
5	Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome. Am J Med Genet. 2000 Feb 14;90(4):339-46.