NDNC2
MCID: NLD011
MIFTS: 21

Nail Disorder, Nonsyndromic Congenital, 2 (NDNC2)

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

Aliases & Classifications for Nail Disorder, Nonsyndromic Congenital, 2

MalaCards integrated aliases for Nail Disorder, Nonsyndromic Congenital, 2:

Name: Nail Disorder, Nonsyndromic Congenital, 2 58
Congenital Koilonychia 54 74
Nonsyndromic Congenital Nail Disorder 2 12
Koilonychia, Hereditary 58
Hereditary Koilonychia 54
Familial Koilonychia 54
Spoon Nails 58
Ndnc2 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
intrafamilial variability in degree of nail involvement
sparing of some nails in some individuals
no abnormalities of hair, teeth, or bones


HPO:

33
nail disorder, nonsyndromic congenital, 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080080
OMIM 58 149300
MedGen 43 C0266000
SNOMED-CT via HPO 70 263681008 66270006
UMLS 74 C0266000

Summaries for Nail Disorder, Nonsyndromic Congenital, 2

OMIM : 58 Koilonychia, or 'spoon nails,' is a relatively uncommon disorder in which the nails are abnormally thin and concave from side to side, with the edges turned up. Single or multiple fingers and/or toes may be involved (summary by Bumpers and Bishop, 1980). Koilonychia is referred to here as nonsyndromic congenital nail disorder-2 (NDNC2). For a list of other nonsyndromic congenital nail disorders and a discussion of genetic heterogeneity, see NDNC1 (161050). (149300)

MalaCards based summary : Nail Disorder, Nonsyndromic Congenital, 2, also known as congenital koilonychia, is related to ectodermal dysplasia 9, hair/nail type and monilethrix, and has symptoms including koilonychia Affiliated tissues include bone and skin, and related phenotype is concave nail.

Related Diseases for Nail Disorder, Nonsyndromic Congenital, 2

Symptoms & Phenotypes for Nail Disorder, Nonsyndromic Congenital, 2

Human phenotypes related to Nail Disorder, Nonsyndromic Congenital, 2:

33
# Description HPO Frequency HPO Source Accession
1 concave nail 33 HP:0001598

Symptoms via clinical synopsis from OMIM:

58
Skin Nails Hair Nails:
spoon-shaped fingernails (koilonychia), thumb, index, and middle fingers most severely affected
spoon-shaped toenails

Clinical features from OMIM:

149300

UMLS symptoms related to Nail Disorder, Nonsyndromic Congenital, 2:


koilonychia

Drugs & Therapeutics for Nail Disorder, Nonsyndromic Congenital, 2

Search Clinical Trials , NIH Clinical Center for Nail Disorder, Nonsyndromic Congenital, 2

Genetic Tests for Nail Disorder, Nonsyndromic Congenital, 2

Anatomical Context for Nail Disorder, Nonsyndromic Congenital, 2

MalaCards organs/tissues related to Nail Disorder, Nonsyndromic Congenital, 2:

42
Bone, Skin

Publications for Nail Disorder, Nonsyndromic Congenital, 2

Articles related to Nail Disorder, Nonsyndromic Congenital, 2:

# Title Authors Year
1
Keratosis pilaris and hereditary koilonychia without monilethrix. ( 11568761 )
2001
2
Hereditary koilonychia. ( 5173282 )
1971
3
Hereditary koilonychia. ( 24537201 )
1950

Variations for Nail Disorder, Nonsyndromic Congenital, 2

Expression for Nail Disorder, Nonsyndromic Congenital, 2

Search GEO for disease gene expression data for Nail Disorder, Nonsyndromic Congenital, 2.

Pathways for Nail Disorder, Nonsyndromic Congenital, 2

GO Terms for Nail Disorder, Nonsyndromic Congenital, 2

Sources for Nail Disorder, Nonsyndromic Congenital, 2

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
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
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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