NDNC8
MCID: NLD015
MIFTS: 35

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 70
Nonsyndromic Congenital Nail Disorder 8 12 15
Isolated Toenail Dystrophy 12 72
Ndnc8 57 72
Isolated Toenail Dystrophy Without Skin Fragility 72
Nail Disorder, Nonsyndromic Congenital, Type 8 39
Nail Disorder, Non-Syndromic Congenital, 8 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
nail disorder, nonsyndromic congenital, 8:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080086
OMIM® 57 607523
OMIM Phenotypic Series 57 PS161050
MeSH 44 D009260
MedGen 41 C1843761
SNOMED-CT via HPO 68 263681008
UMLS 70 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) (Updated 20-May-2021)

MalaCards based summary : Nail Disorder, Nonsyndromic Congenital, 8, also known as toenail dystrophy, isolated, is related to epidermolysis bullosa dystrophica, autosomal recessive and kindler syndrome. 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 ERK Signaling and Integrin Pathway. Affiliated tissues include skin, and related phenotype is dystrophic toenail.

Disease Ontology : 12 A nonsyndromic congenital nail disorder that is characterized by dystrophy of the toenails only.

UniProtKB/Swiss-Prot : 72 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

Diseases in the Nail Disease family:

Nail Disorder, Nonsyndromic Congenital, 6 Nail Disorder, Nonsyndromic Congenital, 2
Nail Disorder, Nonsyndromic Congenital, 3 Nail Disorder, Nonsyndromic Congenital, 1
Nail Disorder, Nonsyndromic Congenital, 5 Nail Disorder, Nonsyndromic Congenital, 4
Nail Disorder, Nonsyndromic Congenital, 7 Nail Disorder, Nonsyndromic Congenital, 8
Nail Disorder, Nonsyndromic Congenital, 9 Nonsyndromic Congenital Nail Disorder

Diseases related to Nail Disorder, Nonsyndromic Congenital, 8 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 19)
# Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa dystrophica, autosomal recessive 10.9
2 kindler syndrome 10.0 LAMB3 COL7A1
3 recessive dystrophic epidermolysis bullosa 9.9 LAMB3 COL7A1
4 inherited epidermolysis bullosa 9.9 LAMA3 COL7A1
5 ullrich congenital muscular dystrophy 1 9.8 COL6A6 COL6A2
6 epidermolysis bullosa acquisita 9.8 LAMA3 COL7A1
7 maternal uniparental disomy of chromosome 1 9.8 LAMB3 LAMA3
8 maternal uniparental disomy 9.8 LAMB3 LAMA3
9 bethlem myopathy 1 9.8 COL6A6 COL6A2
10 uniparental disomy of chromosome 1 9.8 LAMB3 LAMA3
11 epidermolysis bullosa junctionalis with pyloric atresia 9.8 LAMB3 LAMA3
12 epidermolysis bullosa simplex 9.6 LAMA3 COL7A1
13 epidermolysis bullosa, junctional, herlitz type 9.6 LAMB3 LAMA3 COL7A1
14 epidermolysis bullosa 9.6 LAMB3 LAMA3 COL7A1
15 epidermolysis bullosa dystrophica 9.6 LAMB3 LAMA3 COL7A1
16 epidermolysis bullosa, junctional, non-herlitz type 9.6 LAMB3 LAMA3 COL7A1
17 junctional epidermolysis bullosa 9.5 LAMB3 LAMA3 COL7A1
18 skin disease 9.5 LAMB3 LAMA3 COL7A1
19 bullous pemphigoid 9.5 LAMB3 LAMA3

Graphical network of the top 20 diseases related to Nail Disorder, Nonsyndromic Congenital, 8:



Diseases related to Nail Disorder, Nonsyndromic Congenital, 8

Symptoms & Phenotypes for Nail Disorder, Nonsyndromic Congenital, 8

Human phenotypes related to Nail Disorder, Nonsyndromic Congenital, 8:

31
# Description HPO Frequency HPO Source Accession
1 dystrophic toenail 31 HP:0001810

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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:

40
Skin

Publications for Nail Disorder, Nonsyndromic Congenital, 8

Articles related to Nail Disorder, Nonsyndromic Congenital, 8:

# Title Authors PMID Year
1
Toenail dystrophy with COL7A1 glycine substitution mutations segregates as an autosomal dominant trait in 2 families with dystrophic epidermolysis bullosa. 57 6
11843659 2002
2
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. 6 57
10469344 1999
3
Transient bullous dermolysis of the newborn associated with compound heterozygosity for recessive and dominant COL7A1 mutations. 6 57
9856844 1998
4
Spontaneous disappearance of intraepidermal type VII collagen in a patient with dystrophic epidermolysis bullosa. 6 57
7577595 1995
5
Clinical and molecular dilemmas in the diagnosis of familial epidermolysis bullosa pruriginosa. 6
17434045 2007

Variations for Nail Disorder, Nonsyndromic Congenital, 8

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

6 (show all 16)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COL7A1 NM_000094.3(COL7A1):c.4027C>T (p.Arg1343Ter) SNV Pathogenic 503709 rs761234904 GRCh37: 3:48622187-48622187
GRCh38: 3:48584754-48584754
2 COL7A1 NM_000094.3(COL7A1):c.1637-1G>A SNV Pathogenic 345869 rs886058642 GRCh37: 3:48628250-48628250
GRCh38: 3:48590817-48590817
3 COL7A1 NM_000094.4(COL7A1):c.1573C>T SNV Pathogenic 279785 rs368007918 GRCh37: 3:48628960-48628960
GRCh38: 3:48591527-48591527
4 COL7A1 NM_000094.3(COL7A1):c.425A>G (p.Lys142Arg) SNV Pathogenic 29636 rs121912856 GRCh37: 3:48630971-48630971
GRCh38: 3:48593538-48593538
5 COL7A1 NM_000094.3(COL7A1):c.409C>T (p.Arg137Ter) SNV Pathogenic 449472 rs1203706188 GRCh37: 3:48630987-48630987
GRCh38: 3:48593554-48593554
6 COL7A1 NM_000094.3(COL7A1):c.6752G>A (p.Gly2251Glu) SNV Pathogenic 17436 rs121912834 GRCh37: 3:48610374-48610374
GRCh38: 3:48572941-48572941
7 COL7A1 NM_000094.4(COL7A1):c.6859G>A SNV Pathogenic 17447 rs121912839 GRCh37: 3:48610145-48610145
GRCh38: 3:48572712-48572712
8 COL7A1 NM_000094.3(COL7A1):c.4783G>C (p.Gly1595Arg) SNV Pathogenic 17443 rs121912840 GRCh37: 3:48618916-48618916
GRCh38: 3:48581483-48581483
9 COL7A1 NM_000094.3(COL7A1):c.5443G>A (p.Gly1815Arg) SNV Pathogenic 156289 rs121912841 GRCh37: 3:48615930-48615930
GRCh38: 3:48578497-48578497
10 COL7A1 NM_000094.3(COL7A1):c.7344G>A (p.Val2448=) SNV Pathogenic 372349 rs201728948 GRCh37: 3:48608072-48608072
GRCh38: 3:48570639-48570639
11 COL7A1 NM_000094.4(COL7A1):c.6082G>A SNV Pathogenic 379476 rs762162799 GRCh37: 3:48612870-48612870
GRCh38: 3:48575437-48575437
12 COL7A1 NM_000094.3(COL7A1):c.1732C>T (p.Arg578Ter) SNV Pathogenic 372330 rs144023803 GRCh37: 3:48628154-48628154
GRCh38: 3:48590721-48590721
13 COL7A1 NM_000094.4(COL7A1):c.5820G>A SNV Likely pathogenic 431810 rs200972872 GRCh37: 3:48613682-48613682
GRCh38: 3:48576249-48576249
14 COL7A1 NM_000094.4(COL7A1):c.1907G>T SNV Uncertain significance 502658 rs116005007 GRCh37: 3:48627789-48627789
GRCh38: 3:48590356-48590356
15 COL7A1 NM_000094.4(COL7A1):c.7068+5G>A SNV Uncertain significance 689753 rs779875751 GRCh37: 3:48609429-48609429
GRCh38: 3:48571996-48571996
16 COL7A1 NM_000094.3(COL7A1):c.6091G>A (p.Gly2031Ser) SNV Uncertain significance 17446 rs121912838 GRCh37: 3:48612861-48612861
GRCh38: 3:48575428-48575428

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

72
# Symbol AA change Variation ID SNP ID
1 COL7A1 p.Gly1595Arg VAR_015519 rs121912840
2 COL7A1 p.Gly1815Arg VAR_015520 rs121912841

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

Pathways related to Nail Disorder, Nonsyndromic Congenital, 8 according to GeneCards Suite gene sharing:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.39 LAMB3 LAMA3 COL7A1 COL6A2 COL4A6
2
Show member pathways
13.03 LAMB3 LAMA3 COL7A1 COL6A2 COL4A6
3
Show member pathways
12.7 LAMB3 LAMA3 COL7A1 COL6A2 COL4A6
4
Show member pathways
12.6 LAMB3 LAMA3 COL6A6 COL6A2 COL4A6
5
Show member pathways
12.49 LAMB3 LAMA3 COL6A6 COL6A2 COL4A6
6 12.44 LAMB3 LAMA3 COL4A6
7
Show member pathways
12.37 LAMB3 LAMA3 COL7A1 COL6A6 COL6A2 COL4A6
8
Show member pathways
11.75 LAMB3 LAMA3 COL7A1 COL6A6 COL6A2 COL4A6
9 11.66 LAMB3 LAMA3 COL4A6
10 11.6 LAMB3 LAMA3 COL4A6
11
Show member pathways
11.55 LAMB3 LAMA3 COL6A6 COL6A2 COL4A6
12 11.39 LAMB3 LAMA3 COL4A6
13 11.08 COL6A6 COL6A2
14 10.56 LAMB3 LAMA3 COL7A1 COL6A2 COL4A6

GO Terms for Nail Disorder, Nonsyndromic Congenital, 8

Cellular components related to Nail Disorder, Nonsyndromic Congenital, 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.73 LAMB3 LAMA3 COL7A1 COL6A6 COL6A2 COL4A6
2 endoplasmic reticulum lumen GO:0005788 9.54 COL7A1 COL6A2 COL4A6
3 extracellular matrix GO:0031012 9.5 COL6A6 COL6A2 COL4A6
4 basement membrane GO:0005604 9.46 LAMB3 LAMA3 COL7A1 COL4A6
5 collagen trimer GO:0005581 9.26 COL7A1 COL6A6 COL6A2 COL4A6
6 collagen-containing extracellular matrix GO:0062023 9.1 LAMB3 LAMA3 COL7A1 COL6A6 COL6A2 COL4A6

Biological processes related to Nail Disorder, Nonsyndromic Congenital, 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 epidermis development GO:0008544 9.43 LAMB3 LAMA3 COL7A1
2 animal organ morphogenesis GO:0009887 9.4 LAMA3 LAMB3
3 tissue development GO:0009888 9.37 LAMA3 LAMB3
4 extracellular matrix organization GO:0030198 9.35 LAMB3 LAMA3 COL7A1 COL6A2 COL4A6
5 endodermal cell differentiation GO:0035987 9.33 LAMB3 LAMA3 COL7A1
6 hemidesmosome assembly GO:0031581 9.32 LAMB3 LAMA3
7 cell adhesion GO:0007155 9.1 LAMB3 LAMA3 COL7A1 COL6A6 COL6A2 COL4A6

Molecular functions related to Nail Disorder, Nonsyndromic Congenital, 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 9.13 LAMB3 LAMA3 COL4A6
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.92 COL7A1 COL6A6 COL6A2 COL4A6

Sources for Nail Disorder, Nonsyndromic Congenital, 8

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....