NDNC8
MCID: NLD015
MIFTS: 24

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 57 29 6
Toenail Dystrophy, Isolated 57 13 73
Ndnc8 57 75
Isolated Toenail Dystrophy Without Skin Fragility 75
Nail Disorder, Nonsyndromic Congenital, Type 8 40
Nail Disorder, Non-Syndromic Congenital, 8 75
Nonsyndromic Congenital Nail Disorder 8 12
Isolated Toenail Dystrophy 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
nail disorder, nonsyndromic congenital, 8:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 607523
Disease Ontology 12 DOID:0080086
MedGen 42 C1843761
MeSH 44 D009260
SNOMED-CT via HPO 69 263681008
UMLS 73 C1843761

Summaries for Nail Disorder, Nonsyndromic Congenital, 8

OMIM : 57 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 and bone.

UniProtKB/Swiss-Prot : 75 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:

57
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 29 COL7A1

Anatomical Context for Nail Disorder, Nonsyndromic Congenital, 8

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

41
Skin, Bone

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:

75
# 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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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