NDNC5
MCID: NLD013
MIFTS: 15

Nail Disorder, Nonsyndromic Congenital, 5 (NDNC5)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Nail Disorder, Nonsyndromic Congenital, 5

MalaCards integrated aliases for Nail Disorder, Nonsyndromic Congenital, 5:

Name: Nail Disorder, Nonsyndromic Congenital, 5 57
Onycholysis, Partial, with Scleronychia 57 72
Nonsyndromic Congenital Nail Disorder 5 12
Onycholysis, Hereditary Distal 57
Ndnc5 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
nail changes may be intermittent in some patients


HPO:

32
nail disorder, nonsyndromic congenital, 5:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080083
MedGen 42 C1833909
UMLS 72 C1833909

Summaries for Nail Disorder, Nonsyndromic Congenital, 5

OMIM : 57 Hereditary distal onycholysis is an autosomal dominant nail disorder characterized by a decreased rate of growth of the nail, scleronychia, and a straight or concave proximal edge of detachment. Clinical features may include palmoplantar hyperhydrosis and marked sensitivity of the fingers to cold (summary by Bazex et al., 1990). Hereditary distal onycholysis is referred to here as nonsyndromic congenital nail disorder-5 (NDNC5). For a list of other nonsyndromic congenital nail disorders and a discussion of genetic heterogeneity, see NDNC1 (161050). (164800)

MalaCards based summary : Nail Disorder, Nonsyndromic Congenital, 5, is also known as onycholysis, partial, with scleronychia. Related phenotypes are palmoplantar hyperhidrosis and onycholysis of distal fingernails

Related Diseases for Nail Disorder, Nonsyndromic Congenital, 5

Symptoms & Phenotypes for Nail Disorder, Nonsyndromic Congenital, 5

Human phenotypes related to Nail Disorder, Nonsyndromic Congenital, 5:

32
# Description HPO Frequency HPO Source Accession
1 palmoplantar hyperhidrosis 32 occasional (7.5%) HP:0007410
2 onycholysis of distal fingernails 32 HP:0008400

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
palmoplantar hyperhidrosis (in some patients)
fissures of soles (in some patients)
sensitivity to cold with paresthesias

Skin Nails Hair Nails:
onycholysis of distal nails
discoloration of distal nails
slowing of nail growth
scleronychia (induration and thickening of nails)
increased transverse curvature in some nails
more

Clinical features from OMIM:

164800

Drugs & Therapeutics for Nail Disorder, Nonsyndromic Congenital, 5

Search Clinical Trials , NIH Clinical Center for Nail Disorder, Nonsyndromic Congenital, 5

Genetic Tests for Nail Disorder, Nonsyndromic Congenital, 5

Anatomical Context for Nail Disorder, Nonsyndromic Congenital, 5

Publications for Nail Disorder, Nonsyndromic Congenital, 5

Articles related to Nail Disorder, Nonsyndromic Congenital, 5:

# Title Authors PMID Year
1
Hereditary distal onycholysis--a case report. 8
2347107 1990
2
[Procceedings: Hereditary onycholysis mit scleronychia]. 8
1213896 1975
3
[Hereditary dysplasia of the 5th toe]. 8
5355969 1969
4
[Hereditary partial onycholysis with scleronychia]. 8
5926726 1966

Variations for Nail Disorder, Nonsyndromic Congenital, 5

Expression for Nail Disorder, Nonsyndromic Congenital, 5

Search GEO for disease gene expression data for Nail Disorder, Nonsyndromic Congenital, 5.

Pathways for Nail Disorder, Nonsyndromic Congenital, 5

GO Terms for Nail Disorder, Nonsyndromic Congenital, 5

Sources for Nail Disorder, Nonsyndromic Congenital, 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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