Details of Disease

General Information of Disease (ID: DISMZ113)

Disease Name Autosomal recessive cutis laxa type 2, classic type
Synonyms
autosomal recessive cutis laxa type II classic type; ADCL2; Arcl2; ARCL2A; autosomal recessive cutis laxa type 2, Debre type; ARCL2, Debr type; ARCL2, Debre type; autosomal recessive cutis laxa type 2, Debr type; ARCL2, classic type
Disease Hierarchy
DIS0OJ0Q: Inherited cutis laxa
DISMZ113: Autosomal recessive cutis laxa type 2, classic type
Disease Identifiers
MONDO ID
MONDO_0009054
UMLS CUI
C5679922
MedGen ID
1825992
Orphanet ID
357074

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
ATP6V1A TTL2PXZ Supportive Autosomal recessive [1]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ATP6V1A OTYZ2S9E Supportive Autosomal recessive [1]
ATP6V1E1 OT76J5R9 Supportive Autosomal recessive [1]
ATP6V0A2 OTJBDX0Y Strong Autosomal recessive [2]
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References

1 Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa. Am J Hum Genet. 2017 Feb 2;100(2):216-227. doi: 10.1016/j.ajhg.2016.12.010. Epub 2017 Jan 5.
2 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.