Anonychia Congenita malady
Categories: Genetic diseases, Rare diseases, Skin diseases, Fetal diseases
Aliases & Descriptions for Anonychia Congenita:
Orphanet epidemiological data:53
anonychia congenita totalis:
Inheritance: Autosomal recessive
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Skin diseases
ICD10: 30 29
OMIM:51 Congenital anonychia is defined as the absence of fingernails and toenails. Anonychia and its milder phenotypic... (206800) more...
MalaCards based summary: Anonychia Congenita, also known as hyponychia congenita, is related to anonychia-onychodystrophy with hypoplasia or absence of distal phalanges and isolated congenital anonychia, and has symptoms including anonychia An important gene associated with Anonychia Congenita is RSPO4 (R-Spondin 4). Affiliated tissues include bone and skin.
NIH Rare Diseases:47 Anonychia congenita is an extremely rare nail disorder characterized by the complete absence (anonychia) or abnormally developed fingernails and toenails. Affected individuals usually do not have hair, teeth, or bone abnormalities. Signs and symptoms are variable, even among affected members of the same family. Less than 20 individuals with anonychia congenita have been identified. This condition is thought to be caused by mutations in the RSPO4 gene and inherited in an autosomal recessive fashion. Last updated: 9/27/2012
UniProtKB/Swiss-Prot:69 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.
Diseases related to Anonychia Congenita via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of diseases related to Anonychia Congenita:
MalaCards organs/tissues related to Anonychia Congenita:35
Articles related to Anonychia Congenita:
UniProtKB/Swiss-Prot genetic disease variations for Anonychia Congenita:69
Clinvar genetic disease variations for Anonychia Congenita:5
Search GEO for disease gene expression data for Anonychia Congenita.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet