NDNC6
MCID: NLD010
MIFTS: 18

Nail Disorder, Nonsyndromic Congenital, 6 (NDNC6)

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

Aliases & Classifications for Nail Disorder, Nonsyndromic Congenital, 6

MalaCards integrated aliases for Nail Disorder, Nonsyndromic Congenital, 6:

Name: Nail Disorder, Nonsyndromic Congenital, 6 58 74
Anonychia/hyponychia and Onychodystrophy 58
Nonsyndromic Congenital Nail Disorder 6 12
Anonychia, Partial 58
Ndnc6 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
intrafamilial variability in nail changes


HPO:

33
nail disorder, nonsyndromic congenital, 6:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080084
OMIM 58 107000
MedGen 43 C3275544
UMLS 74 C3275544

Summaries for Nail Disorder, Nonsyndromic Congenital, 6

OMIM : 58 Congenital absence of the nails is a rare condition. Some pedigrees display complete congenital absence of the nails (see, e.g., NDNC4, 206800), whereas in other pedigrees there is only partial congenital anonychia, with the thumbs and great toes most severely affected and progressively less severe changes in the more lateral digits (summary by Charteris, 1918). This form of nail disorder is referred to here as nonsyndromic congenital nail disorder-6 (NDNC6). For a list of other nonsyndromic congenital nail disorders and a discussion of genetic heterogeneity, see NDNC1 (161050). (107000)

MalaCards based summary : Nail Disorder, Nonsyndromic Congenital, 6, is also known as anonychia/hyponychia and onychodystrophy. Affiliated tissues include skin and bone, and related phenotypes are tapered distal phalanges of finger and nail dystrophy

Related Diseases for Nail Disorder, Nonsyndromic Congenital, 6

Symptoms & Phenotypes for Nail Disorder, Nonsyndromic Congenital, 6

Human phenotypes related to Nail Disorder, Nonsyndromic Congenital, 6:

33
# Description HPO Frequency HPO Source Accession
1 tapered distal phalanges of finger 33 occasional (7.5%) HP:0009884
2 nail dystrophy 33 HP:0008404
3 congenital hip dislocation 33 HP:0001374
4 anonychia 33 HP:0001798
5 nail dysplasia 33 HP:0002164

Symptoms via clinical synopsis from OMIM:

58
Skin Nails Hair Nails:
onychodystrophy
complete anonychia of first digits of hands and feet
absent or hypoplastic nails of second through fifth digits

Skeletal Hands:
tapered distal phalanges (in some patients)
spatulated distal phalanges (in some patients)

Skeletal Limbs:
patellae present bilaterally

Skeletal Feet:
tapered distal phalanges (in some patients)
spatulated distal phalanges (in some patients)

Clinical features from OMIM:

107000

Drugs & Therapeutics for Nail Disorder, Nonsyndromic Congenital, 6

Search Clinical Trials , NIH Clinical Center for Nail Disorder, Nonsyndromic Congenital, 6

Genetic Tests for Nail Disorder, Nonsyndromic Congenital, 6

Anatomical Context for Nail Disorder, Nonsyndromic Congenital, 6

MalaCards organs/tissues related to Nail Disorder, Nonsyndromic Congenital, 6:

42
Skin, Bone

Publications for Nail Disorder, Nonsyndromic Congenital, 6

Variations for Nail Disorder, Nonsyndromic Congenital, 6

Expression for Nail Disorder, Nonsyndromic Congenital, 6

Search GEO for disease gene expression data for Nail Disorder, Nonsyndromic Congenital, 6.

Pathways for Nail Disorder, Nonsyndromic Congenital, 6

GO Terms for Nail Disorder, Nonsyndromic Congenital, 6

Sources for Nail Disorder, Nonsyndromic Congenital, 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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