Details of Disease | DrugMAP

General Information of Disease (ID: DISETCW9)

Disease Name	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
Synonyms	autosomal recessive cutis laxa type IC; cutis laxa, autosomal recessive, type 1C; cutis laxa with Severe pulmonary, gastrointestinal, and urinary abnormalities; cutis laxa, autosomal recessive, type IC; Urban-Rifkin-Davis syndrome; autosomal recessive cutis laxa type 1C; ARCL1C
Definition	A autosomal recessive cutis laxa type I that has material basis in homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13
Disease Hierarchy	DISCPWH9: Autosomal recessive disease DIS0OJ0Q: Inherited cutis laxa DISETCW9: Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
Disease Identifiers	MONDO ID MONDO_0013170 MESH ID C567716 UMLS CUI C2750804 OMIM ID 613177 MedGen ID 442566 Orphanet ID 221145 SNOMED CT ID 784349004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
LTBP4	OTC8WL2V	Strong	Autosomal recessive	[1]
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References

1	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.