NDNC6
MCID: NLD010
MIFTS: 15

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 57 72
Anonychia/hyponychia and Onychodystrophy 57
Nonsyndromic Congenital Nail Disorder 6 12
Anonychia, Partial 57
Ndnc6 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
intrafamilial variability in nail changes


HPO:

32
nail disorder, nonsyndromic congenital, 6:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080084
MedGen 42 C3275544
UMLS 72 C3275544

Summaries for Nail Disorder, Nonsyndromic Congenital, 6

OMIM : 57 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. 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:

32
# Description HPO Frequency HPO Source Accession
1 tapered distal phalanges of finger 32 occasional (7.5%) HP:0009884
2 nail dystrophy 32 HP:0008404
3 congenital hip dislocation 32 HP:0001374
4 anonychia 32 HP:0001798
5 nail dysplasia 32 HP:0002164

Symptoms via clinical synopsis from OMIM:

57
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

Publications for Nail Disorder, Nonsyndromic Congenital, 6

Articles related to Nail Disorder, Nonsyndromic Congenital, 6:

# Title Authors PMID Year
1
Dominant anonychia and onychodystrophy. 8
5771215 1969
2
Case of Partial Hereditary Anonychia. 8
30435097 1918

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
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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