NDNC9
MCID: NLD006
MIFTS: 31

Nail Disorder, Nonsyndromic Congenital, 9 (NDNC9)

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

Aliases & Classifications for Nail Disorder, Nonsyndromic Congenital, 9

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

Name: Nail Disorder, Nonsyndromic Congenital, 9 56 13 71
Nail Dysplasia 56 29 6 71
Nonsyndromic Congenital Nail Disorder 9 12
Anonychia-Onycholysis, Isolated 56
Dystrophia Unguium 71
Onychodystrophy 56
Ndnc9 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
nail disorder, nonsyndromic congenital, 9:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080087
OMIM 56 614149
OMIM Phenotypic Series 56 PS161050
MedGen 41 C3279947
SNOMED-CT via HPO 68 258211005
UMLS 71 C0221260 C1834405 C3279947

Summaries for Nail Disorder, Nonsyndromic Congenital, 9

OMIM : 56 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, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome and deafness, congenital, with onychodystrophy, autosomal dominant, and has symptoms including koilonychia and nail bed hemorrhage. An important gene associated with Nail Disorder, Nonsyndromic Congenital, 9 is ARID1B (AT-Rich Interaction Domain 1B). The drugs Tazarotene and Dermatologic Agents have been mentioned in the context of this disorder. Related phenotypes are absent toenail and onycholysis of distal fingernails

Disease Ontology : 12 A nonsyndromic congenital nail disorder that is characterized by normal nails at birth with dystrophic changes developing within the first decade of life, resulting in onycholysis of fingernails and anonychia of toenails.

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 Nonsyndromic Congenital Nail Disorder

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

(show top 50) (show all 130)
# Related Disease Score Top Affiliating Genes
1 deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome 12.8
2 deafness, congenital, with onychodystrophy, autosomal dominant 12.7
3 autosomal dominant deafness-onychodystrophy syndrome 12.6
4 anonychia-onychodystrophy with hypoplasia or absence of distal phalanges 12.6
5 cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma 12.5
6 nail dysplasia, isolated congenital 12.4
7 anonychia-onychodystrophy with brachydactyly type b and ectrodactyly 12.4
8 alopecia universalis onychodystrophy vitiligo 12.4
9 deafness-onychodystrophy syndrome 12.4
10 autosomal recessive nail dysplasia 12.3
11 chand syndrome 12.2
12 onychodystrophy-anonychia 12.2
13 witkop syndrome 12.0
14 dermatopathia pigmentosa reticularis 11.8
15 limb-mammary syndrome 11.6
16 tonoki syndrome 11.5
17 nail disorder, nonsyndromic congenital, 7 11.5
18 nail disorder, nonsyndromic congenital, 6 11.5
19 schopf-schulz-passarge syndrome 11.5
20 brachydactyly type a5 11.4
21 adult syndrome 11.4
22 nail disorder, nonsyndromic congenital, 1 11.3
23 polyposis, skin pigmentation, alopecia, and fingernail changes 11.3
24 nail disorder, nonsyndromic congenital, 4 11.3
25 palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, x-linked 11.3
26 palmoplantar keratoderma, mutilating, with periorificial keratotic plaques 11.3
27 nonsyndromic congenital nail disorder 11.3
28 lymphatic malformation 1 11.2
29 ectodermal dysplasia/short stature syndrome 11.2
30 pili torti onychodysplasia 11.2
31 hypertrophy of the breast, juvenile 11.2
32 weyers acrofacial dysostosis 11.2
33 cleft lip/palate-ectodermal dysplasia syndrome 11.2
34 mental retardation, x-linked, syndromic, nascimento type 11.2
35 ectodermal dysplasia 4, hair/nail type 11.2
36 syndromic x-linked intellectual disability nascimento type 11.2
37 lymphatic malformation 5 11.1
38 haim-munk syndrome 11.1
39 lymphatic malformation 2 11.1
40 lymphatic malformation 3 11.1
41 dyskeratosis congenita, autosomal dominant 3 11.1
42 lymphatic malformation 4 11.1
43 dyskeratosis congenita, autosomal dominant 6 11.1
44 branchiootic syndrome 1 10.6
45 alopecia 10.5
46 keratosis 10.4
47 dermatitis 10.3
48 alopecia areata 10.3
49 vitiligo-associated multiple autoimmune disease susceptibility 6 10.2
50 vitiligo-associated multiple autoimmune disease susceptibility 1 10.2

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

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

31
# Description HPO Frequency HPO Source Accession
1 absent toenail 31 HP:0001802
2 onycholysis of distal fingernails 31 HP:0008400

Symptoms via clinical synopsis from OMIM:

56
Skin Nails Hair Nails:
onycholysis of fingernails
dystrophy of free margin of fingernails
anonychia of toenails

Clinical features from OMIM:

614149

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


koilonychia, nail bed hemorrhage

Drugs & Therapeutics for Nail Disorder, Nonsyndromic Congenital, 9

Drugs for Nail Disorder, Nonsyndromic Congenital, 9 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tazarotene Approved, Investigational Phase 4 118292-40-3 5381
2 Dermatologic Agents Phase 4
3 Keratolytic Agents Phase 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Efficacy of Combined Fractional Carbon Dioxide Laser and Topical Tazarotene in the Treatment of Psoriatic: Nail Disease a Single-blind, Intrapatient Left-to-right Controlled Study. Unknown status NCT03263624 Phase 4 Tazarotene Cream 0.1%
2 Prevalence of Onychodystrophy in Patients With Chronic Venous Disease of the Lower Limbs Completed NCT02731222

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

Publications for Nail Disorder, Nonsyndromic Congenital, 9

Articles related to Nail Disorder, Nonsyndromic Congenital, 9:

(show top 50) (show all 117)
# Title Authors PMID Year
1
Localization of a novel locus for hereditary nail dysplasia to chromosome 17q25.1-17q25.3. 56 61
15200512 2004
2
Novel phenotype of syndromic premature ovarian insufficiency associated with TP63 molecular defect. 61
32067224 2020
3
A novel frame shift mutation in STIM1 gene causing primary immunodeficiency. 61
32494559 2020
4
Internal Carotid Artery Aplasia in a Patient With Nail-Patella Syndrome. 61
31746280 2020
5
Association of sequence variants in frizzled-6 with autosomal recessive nail dysplasia (NDNC-10) in Pashtun families. 61
31954040 2020
6
Electron Microscopic and Immunohistochemical Findings of the Epidermal Basement Membrane in Two Families with Nail-patella Syndrome. 61
31513274 2019
7
First Report of a Known Pathogenic Variant in the FZD6 Gene, in an Iranian Family with Recessive Nail Dysplasia: A Case Report. 61
31497560 2019
8
A possible founder mutation in FZD6 gene in a Turkish family with autosomal recessive nail dysplasia. 61
30642273 2019
9
Infrared meibography and molecular assessment of p63 gene mutations in a Mexican patient with EEC syndrome. 61
30025988 2018
10
Topical sucralfate cream treatment for aplasia cutis congenita with dystrophic epidermolysis bullosa: a case study. 61
30398936 2018
11
[Isolated nonsyndromic nail dysplasia: Homozygous mutation in SLC25A16]. 61
29605437 2018
12
Short stature and hypothyroidism in a child with Nail-Patella Syndrome. A case report. 61
29664512 2018
13
A Mutation in INSR in a Child Presenting with Severe Acanthosis Nigricans. 61
28663160 2017
14
Confirmation that RIPK4 mutations cause not only Bartsocas-Papas syndrome but also CHAND syndrome. 61
28940926 2017
15
Malignant transformation of oral leukoplakia in a patient with dyskeratosis congenita. 61
28923296 2017
16
A novel pathogenic variant in the FZD6 gene causes recessive nail dysplasia in a large Iranian kindred. 61
28545862 2017
17
Mutation of WIF1: a potential novel cause of a Nail-Patella-like disorder. 61
28383544 2017
18
A novel mutation in homeobox DNA binding domain of HOXC13 gene underlies pure hair and nail ectodermal dysplasia (ECTD9) in a Pakistani family. 61
28403827 2017
19
Steroid-resistant nephrotic syndrome as the initial presentation of nail-patella syndrome: a case of a de novo LMX1B mutation. 61
28335748 2017
20
Isolated recessive nail dysplasia caused by FZD6 mutations: report of three families and review of the literature. 61
27786367 2016
21
MSX1 mutations and associated disease phenotypes: genotype-phenotype relations. 61
27381090 2016
22
Viable phenotype of ILNEB syndrome without nephrotic impairment in siblings heterozygous for unreported integrin alpha3 mutations. 61
27717396 2016
23
9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping. 61
26395556 2016
24
Hoyeraal-Hreidarsson Syndrome due to PARN Mutations: Fourteen Years of Follow-Up. 61
26810774 2016
25
Syndrome in Question. 61
26131880 2015
26
Kabuki syndrome: clinical and molecular diagnosis in the first year of life. 61
25281733 2015
27
Autosomal Dominant Robinow Syndrome 61
25577943 2015
28
Disheveled regulates precoupling of heterotrimeric G proteins to Frizzled 6. 61
24500924 2014
29
Tricho-odonto-onycho-dermal dysplasia and WNT10A mutations. 61
24458874 2014
30
Human telomeres and telomere biology disorders. 61
24993697 2014
31
Frizzled6 deficiency disrupts the differentiation process of nail development. 61
23439395 2013
32
MSX1 mutation in witkop syndrome; a case report. 61
24031111 2013
33
Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders. 61
23782086 2013
34
A novel missense mutation in the gene FZD6 underlies autosomal recessive nail dysplasia. 61
22861124 2013
35
A hypoplastic patella fracture in nail patella syndrome: a case report. 61
22800460 2012
36
FZD6 encoding the Wnt receptor frizzled 6 is mutated in autosomal-recessive nail dysplasia. 61
22211385 2012
37
Mutations in Frizzled 6 cause isolated autosomal-recessive nail dysplasia. 61
21665003 2011
38
Additional features of unique Primrose syndrome phenotype. 61
21567911 2011
39
Witkop tooth and nail syndrome: a report of three cases in a family. 61
21054511 2011
40
Ellis van creveld syndrome with synpolydactyly, an antenatal diagnosis with postnatal correlation. 61
22267994 2011
41
Wide clinical spectrum in Zimmermann-Laband syndrome. 61
21614982 2011
42
Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation. 61
20409997 2010
43
TP63-Related Disorders 61
20556892 2010
44
Nail-patella syndrome with an emphasis on the risk of renal and ocular findings. 61
20199424 2010
45
Ellis van Creveld syndrome with unusual association of essential infantile esotropia. 61
20606869 2010
46
Malformations of the index nails. 61
19094128 2009
47
Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands. 61
19876929 2009
48
Sabinas syndrome in monozygotic twins. 61
19438561 2009
49
A known SOST gene mutation causes sclerosteosis in a familial and an isolated case from Brazilian origin. 61
19072561 2008
50
Autosomal recessive acro-fronto-facio-nasal dysostosis associated with genitourinary anomalies: a third case report. 61
18553510 2008

Variations for Nail Disorder, Nonsyndromic Congenital, 9

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

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ARID1B NM_020732.3(ARID1B):c.1612C>T (p.Gln538Ter)SNV Pathogenic 374179 rs1057518951 6:157150430-157150430 6:156829296-156829296
2 CTSK NM_000396.4(CTSK):c.905G>A (p.Trp302Ter)SNV Conflicting interpretations of pathogenicity 684727 1:150769360-150769360 1:150796884-150796884

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 EFO
18 ExPASy
19 FMA
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30 HMDB
31 HPO
32 ICD10
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35 IUPHAR
36 KEGG
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43 MeSH
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48 NCI
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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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