Autosomal recessive nail dysplasia

General Information (adopted from Orphanet):

Synonyms, Signs: ONYCHAUXIS, HYPONYCHIA, AND ONYCHOLYSIS
CLAW-SHAPED NAILS
NDNC10
Number of Symptoms 5
OrphanetNr: 280654
OMIM Id: 614157
ICD-10: Q84.6
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Isolated nail anomaly
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0012542) Onychauxis 2 / 7739
2
 (HPO:0001806) Onycholysis 20 / 7739
3
 (OMIM) Hyponychia 2 / 7739
4
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
5
 (OMIM) Claw-like appearance of fingernails 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Nonsyndromic congenital nail disorder-10 is characterized by onychauxis (thick nails), hyponychia, and onycholysis of all nails, with claw-shaped fingernails in some individuals (summary by Frojmark et al., 2011).

For a list of other nonsyndromic congenital nail ...
Clinical Description OMIM Frojmark et al. (2011) examined 4 affected individuals from 2 unrelated consanguineous Pakistani families segregating autosomal recessive isolated nail dysplasia. Affected members from one of the families had more severe nail dystrophy than affected individuals from the other ...
Molecular genetics OMIM In 2 unrelated consanguineous Pakistani families segregating autosomal recessive isolated nail dysplasia mapping to 8q, Frojmark et al. (2011) analyzed the candidate gene FZD6 and identified homozygosity for a nonsense (603409.0001) and a missense (603409.0002) mutation in affected ...