Details of Disease | DrugMAP

General Information of Disease (ID: DISRL5X7)

Disease Name	Acral self-healing collodion baby
Synonyms	acral SHCB
Definition	Acral self-healing collodion baby (SHCB) is a variant of SHCB characterized by the presence at birth of a collodion membrane only at the extremities.
Disease Hierarchy	DISVMSR6: Autosomal recessive congenital ichthyosis DISRL5X7: Acral self-healing collodion baby
Disease Identifiers	MONDO ID MONDO_0017268 UMLS CUI C4305324 MedGen ID 930993 Orphanet ID 281127 SNOMED CT ID 718633009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TGM1	TT7A949	Strong	GermlineCausalMutation	[1]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
TGM1	DEFJOAG	Supportive	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TGM1	OTB8URRI	Supportive	Autosomal recessive	[1]
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References

1	Acral self-healing collodion baby: report of a new clinical phenotype caused by a novel TGM1 mutation. Br J Dermatol. 2009 Aug;161(2):456-63. doi: 10.1111/j.1365-2133.2009.09277.x. Epub 2009 Jun 4.