Nail Disorder, Nonsyndromic Congenital, 4 (NDNC4)

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Disease Ontology 12 DOID:0050643 DOID:0080082 OMIM 58 206800 KEGG 38 H00683 MeSH 45 C536377 D009260 ICD10 34 Q84.3 ICD10 via Orphanet 35 Q84.3

UMLS via Orphanet 75 C0265998 Orphanet 60 ORPHA79143 ORPHA94150 MedGen 43 C0265998 C3277900 SNOMED-CT via HPO 70 23610003 258211005 UMLS 74 C3277900

OMIM : ⁵⁸ Congenital anonychia is defined as the absence of fingernails and toenails. Anonychia and its milder phenotypic variant, hyponychia, usually occur as a feature of genetic syndromes, in association with significant skeletal and limb anomalies. Isolated nonsyndromic congenital anonychia/hyponychia is a rare entity that usually follows autosomal recessive inheritance with variable expression, even within a given family. The nail phenotypes observed range from no nail field to a nail field of reduced size with an absent or rudimentary nail (summary by Bruchle et al., 2008). This form of nail disorder is referred to here as nonsyndromic congenital nail disorder-4 (NDNC4). For a list of other nonsyndromic congenital nail disorders and a discussion of genetic heterogeneity, see NDNC1 (161050). (206800)

MalaCards based summary : Nail Disorder, Nonsyndromic Congenital, 4, also known as anonychia congenita, is related to epidermolysis bullosa and anonychia-onychodystrophy with brachydactyly type b and ectrodactyly. An important gene associated with Nail Disorder, Nonsyndromic Congenital, 4 is RSPO4 (R-Spondin 4). Affiliated tissues include bone and skin, and related phenotype is anonychia.

Disease Ontology : ¹² A nail disease that is characterized by absence of fingernails and toenails, has material basis in homozygous or compound heterozygous mutation in the R-spondin-4 gene on chromosome 20p13.

Genetics Home Reference : ²⁶ Anonychia congenita is a condition that affects the fingernails and toenails. Individuals with this condition are typically missing all of their fingernails and toenails (anonychia). This absence of nails is noticeable from birth (congenital). In some cases, only part of the nail is missing (hyponychia) or not all fingers and toes are affected. All of the other tissues at the tips of the fingers and toes, including structures that usually support the nail and its growth (such as the nail bed), are normal.

NIH Rare Diseases : ⁵⁴ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 79143Disease definitionIsolated congenital anonychia is characterized by nail abnormalities ranging from onychodystrophy (dystrophic nails) to anonychia (absence of nails). Onychodystrophy-anonychia has been described in at least four generations of a family with male-to-male transmission, suggesting autosomal dominant transmission. Anonychia has been described in approximately less than 20 cases; it is likely to be transmitted as an autosomal recessivetrait. Total anonychia congenita, in which all the fingernails and toenails are absent, may have an autosomal dominant inheritance pattern.Visit the Orphanet disease page for more resources.

UniProtKB/Swiss-Prot : ⁷⁶ Nail disorder, non-syndromic congenital, 4: A nail disorder characterized by congenital anonychia or its milder phenotypic variant hyponychia. Anonychia/hyponychia is the absence or severe hypoplasia of all fingernails and toenails without significant bone anomalies.

Clinical features from OMIM:

206800

Search Clinical Trials , NIH Clinical Center for Nail Disorder, Nonsyndromic Congenital, 4

Search GEO for disease gene expression data for Nail Disorder, Nonsyndromic Congenital, 4.