Details of Disease

General Information of Disease (ID: DISVMSR6)

Disease Name Autosomal recessive congenital ichthyosis
Synonyms inherited ichthyosis, autosomal recessive; ichthyosis, congenital, autosomal recessive; autosomal recessive inherited ichthyosis; ARCI
Disease Class EC20: Congenital ichthyosis
Definition
Autosomal recessive form of inherited ichthyosis.|Editor note: ORDO, PMID:20643494, PMID:23562412 classifies as non-syndromic. A previous comment said syndromic forms exist but I couldn't find evidence of that in the literature (NV).
Disease Hierarchy
DISKGT16: Inherited ichthyosis
DISVMSR6: Autosomal recessive congenital ichthyosis
ICD Code
ICD-11
ICD-11: EC20.02
Expand ICD-11
'EC20.02
Expand ICD-10
'Q80.2; 'Q80.4; 'Q82.8
Disease Identifiers
MONDO ID
MONDO_0017265
UMLS CUI
C1274215
MedGen ID
697564
Orphanet ID
281097
SNOMED CT ID
402772005

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)
This Disease is Treated as An Indication in 1 Clinical Trial Drug(s)
Drug Name Drug ID Highest Status Drug Type REF
PAT-001 DMH9NAY Phase 1 NA [1]
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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 Limited Genetic Variation [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
NIPAL4 OT43JC9A Strong Altered Expression [3]
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References

1 Clinical pipeline report, company report or official report of the Pharmaceutical Research and Manufacturers of America (PhRMA)
2 Characterization of bovine TGM1 and exclusion as candidate gene for ichthyosis in Chianina.J Hered. 2008 Jan-Feb;99(1):81-3. doi: 10.1093/jhered/esm101. Epub 2007 Dec 28.
3 NIPAL4/ichthyin is expressed in the granular layer of human epidermis and mutated in two Pakistani families with autosomal recessive ichthyosis. Dermatology. 2010;220(1):8-14. doi: 10.1159/000265757. Epub 2009 Dec 10.