Details of Disease

General Information of Disease (ID: DISTNU8N)

Disease Name Nonsyndromic congenital nail disorder 4
Synonyms
NDNC4; anonychia/hyponychia congenita; anonychia congenita totalis; anonychia congenita; anonychia totalis; nail disorder, nonsyndromic congenital, 4; HYPONYCHIA congenita; nonsyndromic congenital nail disorder 4; RSPO4 isolated congenital anonychia; nonsyndromic congenital nail disorder type 4; isolated congenital anonychia caused by mutation in RSPO4; nail disorder, nonsyndromic congenital, type 4
Definition Any isolated congenital anonychia in which the cause of the disease is a mutation in the RSPO4 gene.
Disease Hierarchy
DISX4BM4: Isolated congenital anonychia
DISTNU8N: Nonsyndromic congenital nail disorder 4
Disease Identifiers
MONDO ID
MONDO_0008798
MESH ID
C536377
UMLS CUI
C0265998
MedGen ID
120563
HPO ID
HP:0001798
Orphanet ID
94150
SNOMED CT ID
23610003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SOX9 OTVDJFGN Strong Biomarker [1]
RSPO4 OTFX5N3G Definitive Autosomal recessive [2]
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References

1 Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia.Nat Genet. 2009 Aug;41(8):862-3. doi: 10.1038/ng0809-862.
2 Mutations in the gene encoding the Wnt-signaling component R-spondin 4 (RSPO4) cause autosomal recessive anonychia. Am J Hum Genet. 2006 Dec;79(6):1105-9. doi: 10.1086/509789. Epub 2006 Oct 17.