NDNC8
MCID: NLD015
MIFTS: 23

Nail Disorder, Nonsyndromic Congenital, 8 (NDNC8)

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

Aliases & Classifications for Nail Disorder, Nonsyndromic Congenital, 8

MalaCards integrated aliases for Nail Disorder, Nonsyndromic Congenital, 8:

Name: Nail Disorder, Nonsyndromic Congenital, 8 58 30 6
Toenail Dystrophy, Isolated 58 13 74
Ndnc8 58 76
Isolated Toenail Dystrophy Without Skin Fragility 76
Nail Disorder, Nonsyndromic Congenital, Type 8 41
Nail Disorder, Non-Syndromic Congenital, 8 76
Nonsyndromic Congenital Nail Disorder 8 12
Isolated Toenail Dystrophy 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
nail disorder, nonsyndromic congenital, 8:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080086
OMIM 58 607523
MeSH 45 D009260
MedGen 43 C1843761
SNOMED-CT via HPO 70 263681008
UMLS 74 C1843761

Summaries for Nail Disorder, Nonsyndromic Congenital, 8

OMIM : 58 This form of isolated toenail dystrophy has been found to segregate as an autosomal dominant trait in families in which another member has the autosomal recessive skin disorder dystrophic epidermolysis bullosa (226600) or transient bullous dermolysis of the newborn (131705), the features of which include dystrophic nails. The nail changes in isolated toenail dystrophy are most severe in the great toes and consist of the nail plate being buried in the nail bed with a deformed and narrow free edge (summary by Sato-Matsumura et al., 2002). This form of toenail dystrophy is referred to here as nonsyndromic congenital nail disorder-8 (NDNC8). For a list of other nonsyndromic congenital nail disorders and a discussion of genetic heterogeneity, see NDNC1 (161050). (607523)

MalaCards based summary : Nail Disorder, Nonsyndromic Congenital, 8, also known as toenail dystrophy, isolated, is related to epidermolysis bullosa dystrophica, autosomal recessive and dominant dystrophic epidermolysis bullosa. An important gene associated with Nail Disorder, Nonsyndromic Congenital, 8 is COL7A1 (Collagen Type VII Alpha 1 Chain), and among its related pathways/superpathways are Vesicle-mediated transport and Transport to the Golgi and subsequent modification. Affiliated tissues include skin.

UniProtKB/Swiss-Prot : 76 Nail disorder, non-syndromic congenital, 8: A nail disorder characterized by isolated toenail dystrophy. The nail changes are most severe in the great toes and consist of the nail plate being buried in the nail bed with a deformed and narrow free edge.

Related Diseases for Nail Disorder, Nonsyndromic Congenital, 8

Symptoms & Phenotypes for Nail Disorder, Nonsyndromic Congenital, 8

Symptoms via clinical synopsis from OMIM:

58
Skin Nails Hair Nails:
toenail dystrophy, most severe in nails of great toes
nail plate buried in nail bed
distal free edge of toenail is deformed and narrow

Clinical features from OMIM:

607523

Drugs & Therapeutics for Nail Disorder, Nonsyndromic Congenital, 8

Search Clinical Trials , NIH Clinical Center for Nail Disorder, Nonsyndromic Congenital, 8

Genetic Tests for Nail Disorder, Nonsyndromic Congenital, 8

Genetic tests related to Nail Disorder, Nonsyndromic Congenital, 8:

# Genetic test Affiliating Genes
1 Nail Disorder, Nonsyndromic Congenital, 8 30 COL7A1

Anatomical Context for Nail Disorder, Nonsyndromic Congenital, 8

MalaCards organs/tissues related to Nail Disorder, Nonsyndromic Congenital, 8:

42
Skin

Publications for Nail Disorder, Nonsyndromic Congenital, 8

Variations for Nail Disorder, Nonsyndromic Congenital, 8

UniProtKB/Swiss-Prot genetic disease variations for Nail Disorder, Nonsyndromic Congenital, 8:

76
# Symbol AA change Variation ID SNP ID
1 COL7A1 p.Gly1595Arg VAR_015519 rs121912840
2 COL7A1 p.Gly1815Arg VAR_015520 rs121912841

ClinVar genetic disease variations for Nail Disorder, Nonsyndromic Congenital, 8:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 COL7A1 NM_000094.3(COL7A1): c.6752G> A (p.Gly2251Glu) single nucleotide variant Pathogenic rs121912834 GRCh37 Chromosome 3, 48610374: 48610374
2 COL7A1 NM_000094.3(COL7A1): c.6752G> A (p.Gly2251Glu) single nucleotide variant Pathogenic rs121912834 GRCh38 Chromosome 3, 48572941: 48572941
3 COL7A1 NM_000094.3(COL7A1): c.4783G> C (p.Gly1595Arg) single nucleotide variant Pathogenic rs121912840 GRCh37 Chromosome 3, 48618916: 48618916
4 COL7A1 NM_000094.3(COL7A1): c.4783G> C (p.Gly1595Arg) single nucleotide variant Pathogenic rs121912840 GRCh38 Chromosome 3, 48581483: 48581483
5 COL7A1 NM_000094.3(COL7A1): c.6859G> A (p.Gly2287Arg) single nucleotide variant Pathogenic rs121912839 GRCh37 Chromosome 3, 48610145: 48610145
6 COL7A1 NM_000094.3(COL7A1): c.6859G> A (p.Gly2287Arg) single nucleotide variant Pathogenic rs121912839 GRCh38 Chromosome 3, 48572712: 48572712
7 COL7A1 NM_000094.3(COL7A1): c.5443G> A (p.Gly1815Arg) single nucleotide variant Pathogenic rs121912841 GRCh38 Chromosome 3, 48578497: 48578497
8 COL7A1 NM_000094.3(COL7A1): c.5443G> A (p.Gly1815Arg) single nucleotide variant Pathogenic rs121912841 GRCh37 Chromosome 3, 48615930: 48615930

Expression for Nail Disorder, Nonsyndromic Congenital, 8

Search GEO for disease gene expression data for Nail Disorder, Nonsyndromic Congenital, 8.

Pathways for Nail Disorder, Nonsyndromic Congenital, 8

GO Terms for Nail Disorder, Nonsyndromic Congenital, 8

Sources for Nail Disorder, Nonsyndromic Congenital, 8

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
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45 MeSH
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47 MGI
50 NCI
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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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