NDNC5
MCID: NLD013
MIFTS: 16

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 56
Onycholysis, Partial, with Scleronychia 56 71
Nonsyndromic Congenital Nail Disorder 5 12
Onycholysis, Hereditary Distal 56
Ndnc5 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
nail changes may be intermittent in some patients


HPO:

31
nail disorder, nonsyndromic congenital, 5:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080083
OMIM 56 164800
MedGen 41 C1833909
SNOMED-CT via HPO 68 263681008 403375001
UMLS 71 C1833909

Summaries for Nail Disorder, Nonsyndromic Congenital, 5

OMIM : 56 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

Disease Ontology : 12 A nonsyndromic congenital nail disorder that is characterized by a decreased growth rate, thick and hard nails, and a straight or concave proximal edge of detachment.

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:

31
# Description HPO Frequency HPO Source Accession
1 palmoplantar hyperhidrosis 31 occasional (7.5%) HP:0007410
2 onycholysis of distal fingernails 31 HP:0008400

Symptoms via clinical synopsis from OMIM:

56
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. 56
2347107 1990
2
[Procceedings: Hereditary onycholysis mit scleronychia]. 56
1213896 1975
3
[Hereditary dysplasia of the 5th toe]. 56
5355969 1969
4
[Hereditary partial onycholysis with scleronychia]. 56
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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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