NDNC2
MCID: NLD011
MIFTS: 19

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 57
Congenital Koilonychia 53 72
Nonsyndromic Congenital Nail Disorder 2 12
Koilonychia, Hereditary 57
Hereditary Koilonychia 53
Familial Koilonychia 53
Spoon Nails 57
Ndnc2 57

Characteristics:

OMIM:

57
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:

32
nail disorder, nonsyndromic congenital, 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080080
MedGen 42 C0266000
UMLS 72 C0266000

Summaries for Nail Disorder, Nonsyndromic Congenital, 2

OMIM : 57 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 iron metabolism disease, and has symptoms including koilonychia Affiliated tissues include bone, 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:

32
# Description HPO Frequency HPO Source Accession
1 concave nail 32 HP:0001598

Symptoms via clinical synopsis from OMIM:

57
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:

41
Bone

Publications for Nail Disorder, Nonsyndromic Congenital, 2

Articles related to Nail Disorder, Nonsyndromic Congenital, 2:

# Title Authors PMID Year
1
Familial koilonychia. A current case history. 8
7396551 1980
2
A kindred of koilonychia: linkage data. 8
5432288 1970
3
Hereditary congenital koilonychae accompanied by syndejmatotic cataract. 8
14400609 1960
4
Spoon nails: still seen in today's world. 38
29531740 2018
5
Very rare familial spoon nails (Koilonychia). 38
29264018 2017
6
Visual Diagnosis: Spoon Nails and Short, Brittle Hair in a 3-year-old Boy. 38
27587647 2016
7
Clubbing and koilonychia. 38
3830509 1985
8
Koilonychia. A report of familial spoon nails. 38
6024724 1967
9
SPOON NAILS AND CLUBBING. REVIEW AND POSSIBLE STRUCTURAL MECHANISMS. 38
14338563 1965
10
IDIOPATHIC KOILONYCHIA (SPOON NAILS) IN A CHILD WITH HEMOGLOBIN S-C DISEASE. 38
14128014 1964

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
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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