NDNC8
MCID: NLD015
MIFTS: 27

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 and bone.

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, Bone

Publications for Nail Disorder, Nonsyndromic Congenital, 8

Articles related to Nail Disorder, Nonsyndromic Congenital, 8:

# Title Authors Year
1
Clinical and molecular dilemmas in the diagnosis of familial epidermolysis bullosa pruriginosa. ( 17434045 )
2007
2
Toenail dystrophy with COL7A1 glycine substitution mutations segregates as an autosomal dominant trait in 2 families with dystrophic epidermolysis bullosa. ( 11843659 )
2002
3
Compound heterozygosity for silent and dominant glycine substitution mutations in COL7A1 leads to a marked transient intracytoplasmic retention of procollagen VII and a moderately severe dystrophic epidermolysis bullosa phenotype. ( 10469344 )
1999
4
Transient bullous dermolysis of the newborn associated with compound heterozygosity for recessive and dominant COL7A1 mutations. ( 9856844 )
1998
5
Spontaneous disappearance of intraepidermal type VII collagen in a patient with dystrophic epidermolysis bullosa. ( 7577595 )
1995

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 (show all 28)
# 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.425A> G (p.Lys142Arg) single nucleotide variant Pathogenic rs121912856 GRCh37 Chromosome 3, 48630971: 48630971
8 COL7A1 NM_000094.3(COL7A1): c.425A> G (p.Lys142Arg) single nucleotide variant Pathogenic rs121912856 GRCh38 Chromosome 3, 48593538: 48593538
9 COL7A1 NM_000094.3(COL7A1): c.5443G> A (p.Gly1815Arg) single nucleotide variant Pathogenic rs121912841 GRCh38 Chromosome 3, 48578497: 48578497
10 COL7A1 NM_000094.3(COL7A1): c.5443G> A (p.Gly1815Arg) single nucleotide variant Pathogenic rs121912841 GRCh37 Chromosome 3, 48615930: 48615930
11 COL7A1 NM_000094.3(COL7A1): c.1573C> T (p.Arg525Ter) single nucleotide variant Pathogenic rs368007918 GRCh37 Chromosome 3, 48628960: 48628960
12 COL7A1 NM_000094.3(COL7A1): c.1573C> T (p.Arg525Ter) single nucleotide variant Pathogenic rs368007918 GRCh38 Chromosome 3, 48591527: 48591527
13 COL7A1 NM_000094.3(COL7A1): c.1637-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs886058642 GRCh38 Chromosome 3, 48590817: 48590817
14 COL7A1 NM_000094.3(COL7A1): c.1637-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs886058642 GRCh37 Chromosome 3, 48628250: 48628250
15 COL7A1 NM_000094.3(COL7A1): c.1732C> T (p.Arg578Ter) single nucleotide variant Pathogenic rs144023803 GRCh37 Chromosome 3, 48628154: 48628154
16 COL7A1 NM_000094.3(COL7A1): c.1732C> T (p.Arg578Ter) single nucleotide variant Pathogenic rs144023803 GRCh38 Chromosome 3, 48590721: 48590721
17 COL7A1 NM_000094.3(COL7A1): c.7344G> A (p.Val2448=) single nucleotide variant Pathogenic rs201728948 GRCh37 Chromosome 3, 48608072: 48608072
18 COL7A1 NM_000094.3(COL7A1): c.7344G> A (p.Val2448=) single nucleotide variant Pathogenic rs201728948 GRCh38 Chromosome 3, 48570639: 48570639
19 COL7A1 NM_000094.3(COL7A1): c.6082G> A (p.Gly2028Arg) single nucleotide variant Pathogenic rs762162799 GRCh37 Chromosome 3, 48612870: 48612870
20 COL7A1 NM_000094.3(COL7A1): c.6082G> A (p.Gly2028Arg) single nucleotide variant Pathogenic rs762162799 GRCh38 Chromosome 3, 48575437: 48575437
21 COL7A1 NM_000094.3(COL7A1): c.5820G> A (p.Pro1940=) single nucleotide variant Pathogenic/Likely pathogenic rs200972872 GRCh37 Chromosome 3, 48613682: 48613682
22 COL7A1 NM_000094.3(COL7A1): c.5820G> A (p.Pro1940=) single nucleotide variant Pathogenic/Likely pathogenic rs200972872 GRCh38 Chromosome 3, 48576249: 48576249
23 COL7A1 NM_000094.3(COL7A1): c.409C> T (p.Arg137Ter) single nucleotide variant Pathogenic rs1203706188 GRCh37 Chromosome 3, 48630987: 48630987
24 COL7A1 NM_000094.3(COL7A1): c.409C> T (p.Arg137Ter) single nucleotide variant Pathogenic rs1203706188 GRCh38 Chromosome 3, 48593554: 48593554
25 COL7A1 NM_000094.3(COL7A1): c.1907G> T (p.Gly636Val) single nucleotide variant Uncertain significance rs116005007 GRCh37 Chromosome 3, 48627789: 48627789
26 COL7A1 NM_000094.3(COL7A1): c.1907G> T (p.Gly636Val) single nucleotide variant Uncertain significance rs116005007 GRCh38 Chromosome 3, 48590356: 48590356
27 COL7A1 NM_000094.3(COL7A1): c.4027C> T (p.Arg1343Ter) single nucleotide variant Pathogenic rs761234904 GRCh37 Chromosome 3, 48622187: 48622187
28 COL7A1 NM_000094.3(COL7A1): c.4027C> T (p.Arg1343Ter) single nucleotide variant Pathogenic rs761234904 GRCh38 Chromosome 3, 48584754: 48584754

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

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