NDNC7
MCID: NLD007
MIFTS: 21

Nail Disorder, Nonsyndromic Congenital, 7 (NDNC7)

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

Aliases & Classifications for Nail Disorder, Nonsyndromic Congenital, 7

MalaCards integrated aliases for Nail Disorder, Nonsyndromic Congenital, 7:

Name: Nail Disorder, Nonsyndromic Congenital, 7 56
Congenital Onychodysplasia of the Index Fingers 58
Nonsyndromic Congenital Nail Disorder 7 12
Onychodysplasia, Isolated Congenital 56
Nail Dysplasia, Isolated Congenital 71
Isolated Congenital Onychodysplasia 58
Iso-Kikuchi Syndrome 58
Coif Syndrome 58
Ndnc7 56
Coif 58

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
most patients have involvement of all nails, with more severe changes in the nails of the thumbs and great toes


HPO:

31
nail disorder, nonsyndromic congenital, 7:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:0080085
OMIM 56 605779
OMIM Phenotypic Series 56 PS161050
ICD10 via Orphanet 33 Q84.6
UMLS via Orphanet 72 C1853984
Orphanet 58 ORPHA79144
MedGen 41 C1853984
SNOMED-CT via HPO 68 263681008 66270006
UMLS 71 C1853984

Summaries for Nail Disorder, Nonsyndromic Congenital, 7

OMIM : 56 Isolated congenital onychodysplasia, here referred to as nonsyndromic congenital nail disorder-7 (NDNC7), is characterized by longitudinal streaks, thinning, and impaired formation of the nail plates leading to increased vulnerability of the free nail margins. The most characteristic finding is a conspicuous reddish dome-shaped prominence of the proximal nail plate from which the longitudinal ridges originate, but this is present in only about half of patients. In most cases, all fingernails and toenails are involved, with some accentuation of the changes in the thumb nails and great toe nails (summary by Hamm et al., 2000 and Krebsova et al., 2000). For a list of other nonsyndromic congenital nail disorders and a discussion of genetic heterogeneity, see NDNC1 (161050). (605779)

MalaCards based summary : Nail Disorder, Nonsyndromic Congenital, 7, also known as congenital onychodysplasia of the index fingers, is related to chromosome 2q35 duplication syndrome and nail disorder, nonsyndromic congenital, 9. Affiliated tissues include skin and bone, and related phenotypes are concave nail and platonychia

Related Diseases for Nail Disorder, Nonsyndromic Congenital, 7

Graphical network of the top 20 diseases related to Nail Disorder, Nonsyndromic Congenital, 7:



Diseases related to Nail Disorder, Nonsyndromic Congenital, 7

Symptoms & Phenotypes for Nail Disorder, Nonsyndromic Congenital, 7

Human phenotypes related to Nail Disorder, Nonsyndromic Congenital, 7:

31
# Description HPO Frequency HPO Source Accession
1 concave nail 31 HP:0001598
2 platonychia 31 HP:0030803

Symptoms via clinical synopsis from OMIM:

56
Skin Nails Hair Nails:
longitudinal angular ridges
reddish dome-shaped prominence at origin of ridges (in some nails)
thinning of nail plate
free margin notched or split
lunulae poorly developed or absent
more

Clinical features from OMIM:

605779

Drugs & Therapeutics for Nail Disorder, Nonsyndromic Congenital, 7

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Telesimulation and Behavioral Health: Assessment of the Integration of the Abbreviated Checklist Contextual Interview Observation Form-Adult (CIOF-A) as a Learning Tool in Interprofessional Practice & Education: A Pilot Study Active, not recruiting NCT03661372

Search NIH Clinical Center for Nail Disorder, Nonsyndromic Congenital, 7

Genetic Tests for Nail Disorder, Nonsyndromic Congenital, 7

Anatomical Context for Nail Disorder, Nonsyndromic Congenital, 7

MalaCards organs/tissues related to Nail Disorder, Nonsyndromic Congenital, 7:

40
Skin, Bone

Publications for Nail Disorder, Nonsyndromic Congenital, 7

Articles related to Nail Disorder, Nonsyndromic Congenital, 7:

# Title Authors PMID Year
1
Assignment of the gene for a new hereditary nail disorder, isolated congenital nail dysplasia, to chromosome 17p13. 56
10998140 2000
2
Isolated congenital nail dysplasia: a new autosomal dominant condition. 56
11030770 2000
3
Hereditary twenty-nail dystrophy in a Sicilian family. 56
7143386 1982
4
Familial severe twenty-nail dystrophy. 56
7130495 1982
5
[Congenital onychodysplasia (Iso-Kikuchi syndrome)]. 61
7875973 1995

Variations for Nail Disorder, Nonsyndromic Congenital, 7

Expression for Nail Disorder, Nonsyndromic Congenital, 7

Search GEO for disease gene expression data for Nail Disorder, Nonsyndromic Congenital, 7.

Pathways for Nail Disorder, Nonsyndromic Congenital, 7

GO Terms for Nail Disorder, Nonsyndromic Congenital, 7

Sources for Nail Disorder, Nonsyndromic Congenital, 7

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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