Autosomal dominant nail dysplasia

General Information (adopted from Orphanet):

Synonyms, Signs: ONYCHODYSTROPHY TOTALIS, ISOLATED NAIL GROWTH, INCLUDED
NDNC1
Onychodystrophy totalis
twenty-nail dystrophy
Number of Symptoms 14
OrphanetNr: 79153
OMIM Id: 161050
ICD-10: L60.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

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

Symptom Information: Sort by abundance 

1
(HPO:0001805) Thick nail rare [HPO:skoehler] 96 / 7739
2
(HPO:0002164) Nail dysplasia 82 / 7739
3
(HPO:0001816) Thin nail 11 / 7739
4
(OMIM) Fragile or brittle nails 1 / 7739
5
(OMIM) Superficial pitting (in some patients) 1 / 7739
6
(HPO:0003677) Slow progression 134 / 7739
7
(OMIM) Present at birth or onset in early childhood 1 / 7739
8
(OMIM) Longitudinal ridging, excessive (trachyonychia) 1 / 7739
9
(OMIM) Distal onycholysis 2 / 7739
10
(OMIM) Rough, sandpaper-like fingernails and toenails 1 / 7739
11
(OMIM) Opalescent, dull nails 1 / 7739
12
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
13
(OMIM) Thickened, ragged cuticle (in some patients) 1 / 7739
14
(OMIM) Thickened, verrucous skin at free border of nails (rare) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Many types of nonsyndromic congenital nail disorders (NDNC) have been described. Twenty-nail dystrophy (TND), also known as trachyonychia (from the Greek for 'rough nails'), is an autosomal dominant nail dystrophy characterized by excessive longitudinal striations and numerous superficial ...
Clinical Description OMIM Tobias (1925) reported a 4-generation family segregating autosomal dominant nail dystrophy, with at least 12 affected individuals. In 2 cases that were examined, the nails of the fingers became involved early in life. The thumb nails were practically ...