Details of Disease | DrugMAP

General Information of Disease (ID: DISS63GL)

Disease Name	X-linked chondrodysplasia punctata 1
Synonyms	chondrodysplasia punctata 1, X-linked recessive; CDPX1; arylsulfatase E deficiency; chondrodysplasia punctata 1 X-linked recessive; Cpxr; chondrodysplasia punctata, brachytelephalangic; chondrodysplasia punctata brachytelephalangic; chondrodysplasia punctata, Brachytelephalangic; CPXR; chondrodysplasia punctata, X-linked recessive, X-linked recessive; X-linked chondrodysplasia punctata 1; ARSE X-linked chondrodysplasia punctata; arse X-linked chondrodysplasia punctata; X-linked chondrodysplasia punctata caused by mutation in ARSE; X-linked chondrodysplasia punctata caused by mutation in arse; brachytelephalangic chondrodysplasia punctata
Definition	Brachytelephalangic chondrodysplasia punctata (BCDP) is a form of nonrhizomelic chondrodysplasia punctata, a primary bone dysplasia, characterized by hypoplasia of the distal phalanges of the fingers, nasal hypoplasia, epiphyseal stippling appearing in the first year of life, and mild and nonrhizomelic shortness of the long bones.
Disease Hierarchy	DISU9RLP: X-linked chondrodysplasia punctata DISS63GL: X-linked chondrodysplasia punctata 1
Disease Identifiers	MONDO ID MONDO_0010555 MESH ID C580533 UMLS CUI C3669395 OMIM ID 302950 MedGen ID 777171 Orphanet ID 79345

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
ARSL	OTF1VTCR	Definitive	X-linked	[1]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.