MCID: NLD006
MIFTS: 33

Nail Disorder, Nonsyndromic Congenital, 9

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

Aliases & Classifications for Nail Disorder, Nonsyndromic Congenital, 9

MalaCards integrated aliases for Nail Disorder, Nonsyndromic Congenital, 9:

Name: Nail Disorder, Nonsyndromic Congenital, 9 57 13 73
Nail Dysplasia 57 29 6 73
Nonsyndromic Congenital Nail Disorder 9 12
Anonychia-Onycholysis, Isolated 57
Dystrophia Unguium 73
Onychodystrophy 57
Ndnc9 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
nails appear normal at birth, with dystrophic changes developing within the first decade of life


HPO:

32
nail disorder, nonsyndromic congenital, 9:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 614149
Disease Ontology 12 DOID:0080087
MedGen 42 C3279947
SNOMED-CT via HPO 69 258211005

Summaries for Nail Disorder, Nonsyndromic Congenital, 9

OMIM : 57 Although nails appear normal at birth, dystrophic changes develop within the first decade of life, resulting in onycholysis of fingernails and anonychia of toenails (summary by Rafiq et al., 2004). This disorder is referred to here as nonsyndromic congenital nail disorder-9 (NDNC9). For a list of other nonsyndromic congenital nail disorders and a discussion of genetic heterogeneity, see NDNC1 (161050). (614149)

MalaCards based summary : Nail Disorder, Nonsyndromic Congenital, 9, also known as nail dysplasia, is related to deafness, congenital, with onychodystrophy, autosomal dominant and deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome, and has symptoms including nail bed hemorrhage and koilonychia. An important gene associated with Nail Disorder, Nonsyndromic Congenital, 9 is ARID1B (AT-Rich Interaction Domain 1B). Affiliated tissues include bone and bone marrow, and related phenotypes are absent toenail and onycholysis of distal fingernails

Related Diseases for Nail Disorder, Nonsyndromic Congenital, 9

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 Nail Disorder, Nonsyndromic Congenital, 10

Diseases related to Nail Disorder, Nonsyndromic Congenital, 9 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 49)
# Related Disease Score Top Affiliating Genes
1 deafness, congenital, with onychodystrophy, autosomal dominant 12.4
2 deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome 12.3
3 autosomal dominant deafness-onychodystrophy syndrome 12.3
4 anonychia-onychodystrophy with hypoplasia or absence of distal phalanges 12.2
5 nail dysplasia, isolated congenital 12.1
6 anonychia-onychodystrophy with brachydactyly type b and ectrodactyly 12.1
7 alopecia universalis onychodystrophy vitiligo 12.1
8 onychodystrophy-anonychia 11.9
9 witkop syndrome 11.6
10 brachydactyly type a5 11.6
11 chand syndrome 11.3
12 nail disorder, nonsyndromic congenital, 10 11.2
13 tonoki syndrome 11.2
14 nail disorder, nonsyndromic congenital, 1 11.0
15 dermatopathia pigmentosa reticularis 11.0
16 nail disorder, nonsyndromic congenital, 4 11.0
17 palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, x-linked 11.0
18 palmoplantar keratoderma, mutilating, with periorificial keratotic plaques 11.0
19 nail disorder, nonsyndromic congenital, 6 10.9
20 ectodermal dysplasia/short stature syndrome 10.9
21 hypertrophy of the breast, juvenile 10.8
22 polyposis, skin pigmentation, alopecia, and fingernail changes 10.8
23 weyers acrofacial dysostosis 10.8
24 mental retardation, x-linked, syndromic, nascimento type 10.8
25 syndromic x-linked intellectual disability nascimento type 10.8
26 zlotogora syndrome 10.8
27 alopecia 10.1
28 dermatitis 9.9
29 contact dermatitis 9.9
30 allergic contact dermatitis 9.9
31 porokeratosis 9.9
32 alopecia areata 9.9
33 porokeratosis 1, multiple types 9.8
34 alopecia universalis congenita 9.8
35 mycosis fungoides 9.8
36 ectodermal dysplasia 9.8
37 brachydactyly 9.8
38 lymphoma 9.8
39 cutaneous t cell lymphoma 9.8
40 paronychia 9.8
41 melanoma 9.8
42 palmoplantar keratosis 9.8
43 hidrocystoma 9.8
44 amelanotic melanoma 9.8
45 hypotrichosis 9.8
46 localized scleroderma 9.8
47 lichen planus 9.8
48 alopecia totalis 9.8
49 linear porokeratosis 9.8

Graphical network of the top 20 diseases related to Nail Disorder, Nonsyndromic Congenital, 9:



Diseases related to Nail Disorder, Nonsyndromic Congenital, 9

Symptoms & Phenotypes for Nail Disorder, Nonsyndromic Congenital, 9

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Nails:
onycholysis of fingernails
dystrophy of free margin of fingernails
anonychia of toenails


Clinical features from OMIM:

614149

Human phenotypes related to Nail Disorder, Nonsyndromic Congenital, 9:

32
# Description HPO Frequency HPO Source Accession
1 absent toenail 32 HP:0001802
2 onycholysis of distal fingernails 32 HP:0008400

UMLS symptoms related to Nail Disorder, Nonsyndromic Congenital, 9:


nail bed hemorrhage, koilonychia

Drugs & Therapeutics for Nail Disorder, Nonsyndromic Congenital, 9

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Prevalence of Onychodystrophy in Patients With Chronic Venous Disease of the Lower Limbs Completed NCT02731222
2 Cancer in Inherited Bone Marrow Failure Syndromes Recruiting NCT00027274

Search NIH Clinical Center for Nail Disorder, Nonsyndromic Congenital, 9

Genetic Tests for Nail Disorder, Nonsyndromic Congenital, 9

Genetic tests related to Nail Disorder, Nonsyndromic Congenital, 9:

# Genetic test Affiliating Genes
1 Nail Dysplasia 29

Anatomical Context for Nail Disorder, Nonsyndromic Congenital, 9

MalaCards organs/tissues related to Nail Disorder, Nonsyndromic Congenital, 9:

41
Bone, Bone Marrow

Publications for Nail Disorder, Nonsyndromic Congenital, 9

Articles related to Nail Disorder, Nonsyndromic Congenital, 9:

(show all 17)
# Title Authors Year
1
Isolated recessive nail dysplasia caused by FZD6 mutations: report of three families and review of the literature. ( 27786367 )
2016
2
A novel missense mutation in the gene FZD6 underlies autosomal recessive nail dysplasia. ( 22861124 )
2013
3
FZD6 encoding the Wnt receptor frizzled 6 is mutated in autosomal-recessive nail dysplasia. ( 22211385 )
2012
4
Mutations in Frizzled 6 cause isolated autosomal-recessive nail dysplasia. ( 21665003 )
2011
5
Phenotype severity and genetic variation at the disease locus: an investigation of nail dysplasia in the nail patella syndrome. ( 15638822 )
2005
6
Dental implications of Tooth-Nail dysplasia (Witkop syndrome): a report of an affected family and an approach to dental management. ( 14969367 )
2004
7
Hypotrichosis and nail dysplasia: a novel hidrotic ectodermal dysplasia. ( 15068456 )
2004
8
ROR2 is mutated in hereditary brachydactyly with nail dysplasia, but not in Sorsby syndrome. ( 12919145 )
2003
9
Syndactyly/brachyphalangy and nail dysplasias as marker lesions for sclerosteosis. ( 11385236 )
2001
10
Assignment of the gene for a new hereditary nail disorder, isolated congenital nail dysplasia, to chromosome 17p13. ( 10998140 )
2000
11
Short stature, brachydactyly, nail dysplasia, and mental retardation: further observation of the Tonoki syndrome. ( 9856572 )
1998
12
ADULT-syndrome: an autosomal-dominant disorder with pigment anomalies, ectrodactyly, nail dysplasia, and hypodontia. ( 8456838 )
1993
13
A new syndrome of dwarfism, brachydactyly, nail dysplasia, and mental retardation in sibs. ( 2333912 )
1990
14
Hereditary brachydactyly with nail dysplasia. ( 469906 )
1979
15
Hereditary brachydactyly with nail dysplasia. ( 641944 )
1978
16
Alopecia totalis, nail dysplasia and amelogenesis imperfecta. ( 1218220 )
1975
17
CHANDS: the curly hair-ankyloblepharon-nail dysplasia syndrome. ( 5173251 )
1971

Variations for Nail Disorder, Nonsyndromic Congenital, 9

ClinVar genetic disease variations for Nail Disorder, Nonsyndromic Congenital, 9:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ARID1B NM_020732.3(ARID1B): c.1612C> T (p.Gln538Ter) single nucleotide variant Pathogenic rs1057518951 GRCh37 Chromosome 6, 157150430: 157150430
2 ARID1B NM_020732.3(ARID1B): c.1612C> T (p.Gln538Ter) single nucleotide variant Pathogenic rs1057518951 GRCh38 Chromosome 6, 156829296: 156829296

Expression for Nail Disorder, Nonsyndromic Congenital, 9

Search GEO for disease gene expression data for Nail Disorder, Nonsyndromic Congenital, 9.

Pathways for Nail Disorder, Nonsyndromic Congenital, 9

GO Terms for Nail Disorder, Nonsyndromic Congenital, 9

Sources for Nail Disorder, Nonsyndromic Congenital, 9

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....