NDNC9
MCID: NLD006
MIFTS: 36

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 57 13 70
Nail Dysplasia 57 29 6 70
Onychodystrophy 57 6
Nonsyndromic Congenital Nail Disorder 9 12
Anonychia-Onycholysis, Isolated 57
Dystrophia Unguium 70
Ndnc9 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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® 57 614149
OMIM Phenotypic Series 57 PS161050
MedGen 41 C3279947
SNOMED-CT via HPO 68 258211005
UMLS 70 C0221260 C1834405 C3279947

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) (Updated 20-May-2021)

MalaCards based summary : Nail Disorder, Nonsyndromic Congenital, 9, also known as nail dysplasia, is related to nail disorder, nonsyndromic congenital, 4 and nonsyndromic congenital nail disorder, 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), and among its related pathways/superpathways is Degradation of the extracellular matrix. Affiliated tissues include skin and breast, and 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 140)
# Related Disease Score Top Affiliating Genes
1 nail disorder, nonsyndromic congenital, 4 31.3 COL7A1 COL17A1
2 nonsyndromic congenital nail disorder 29.6 NDNC9 COL7A1
3 deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome 11.7
4 deafness, congenital, with onychodystrophy, autosomal dominant 11.6
5 chand syndrome 11.6
6 autosomal dominant deafness-onychodystrophy syndrome 11.4
7 anonychia-onychodystrophy with hypoplasia or absence of distal phalanges 11.4
8 nail dysplasia, isolated congenital 11.4
9 witkop syndrome 11.4
10 cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma 11.3
11 brachydactyly type a5 11.3
12 dermatopathia pigmentosa reticularis 11.2
13 anonychia-onychodystrophy with brachydactyly type b and ectrodactyly 11.2
14 alopecia universalis onychodystrophy vitiligo 11.2
15 limb-mammary syndrome 11.1
16 onychodystrophy-anonychia 11.1
17 deafness-onychodystrophy syndrome 11.1
18 lymphatic malformation 1 11.1
19 autosomal recessive nail dysplasia 11.1
20 nail disorder, nonsyndromic congenital, 7 11.1
21 nail disorder, nonsyndromic congenital, 1 11.0
22 ectodermal dysplasia/short stature syndrome 11.0
23 polyposis, skin pigmentation, alopecia, and fingernail changes 11.0
24 olmsted syndrome, x-linked 11.0
25 olmsted syndrome 1 11.0
26 adult syndrome 11.0
27 lymphatic malformation 5 10.9
28 haim-munk syndrome 10.9
29 lymphatic malformation 2 10.9
30 lymphatic malformation 3 10.9
31 dyskeratosis congenita, autosomal dominant 3 10.9
32 lymphatic malformation 4 10.9
33 dyskeratosis congenita, autosomal dominant 6 10.9
34 nail disorder, nonsyndromic congenital, 6 10.9
35 schopf-schulz-passarge syndrome 10.9
36 hypertrophy of the breast, juvenile 10.9
37 weyers acrofacial dysostosis 10.9
38 cleft lip/palate-ectodermal dysplasia syndrome 10.9
39 mental retardation, x-linked, syndromic, nascimento type 10.9
40 ectodermal dysplasia 4, hair/nail type 10.9
41 syndromic x-linked intellectual disability nascimento type 10.9
42 branchiootic syndrome 1 10.4
43 alopecia 10.3
44 keratosis 10.2
45 alopecia areata 10.1
46 dermatitis 10.1
47 vitiligo-associated multiple autoimmune disease susceptibility 6 10.0
48 vitiligo-associated multiple autoimmune disease susceptibility 1 10.0
49 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
50 exanthem 10.0

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®:

57 (Updated 20-May-2021)
Skin Nails Hair Nails:
onycholysis of fingernails
dystrophy of free margin of fingernails
anonychia of toenails

Clinical features from OMIM®:

614149 (Updated 20-May-2021)

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

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:

40
Skin, Breast

Publications for Nail Disorder, Nonsyndromic Congenital, 9

Articles related to Nail Disorder, Nonsyndromic Congenital, 9:

(show top 50) (show all 118)
# Title Authors PMID Year
1
Localization of a novel locus for hereditary nail dysplasia to chromosome 17q25.1-17q25.3. 57 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
Clinical Features of Girls with Turner Syndrome in a Single Centre in Malaysia. 61
33442133 2019
9
A possible founder mutation in FZD6 gene in a Turkish family with autosomal recessive nail dysplasia. 61
30642273 2019
10
Topical sucralfate cream treatment for aplasia cutis congenita with dystrophic epidermolysis bullosa: a case study. 61
30398936 2018
11
Infrared meibography and molecular assessment of p63 gene mutations in a Mexican patient with EEC syndrome. 61
30025988 2018
12
[Isolated nonsyndromic nail dysplasia: Homozygous mutation in SLC25A16]. 61
29605437 2018
13
Short stature and hypothyroidism in a child with Nail-Patella Syndrome. A case report. 61
29664512 2018
14
A Mutation in INSR in a Child Presenting with Severe Acanthosis Nigricans. 61
28663160 2017
15
Confirmation that RIPK4 mutations cause not only Bartsocas-Papas syndrome but also CHAND syndrome. 61
28940926 2017
16
Mutation of WIF1: a potential novel cause of a Nail-Patella-like disorder. 61
28383544 2017
17
Malignant transformation of oral leukoplakia in a patient with dyskeratosis congenita. 61
28923296 2017
18
A novel pathogenic variant in the FZD6 gene causes recessive nail dysplasia in a large Iranian kindred. 61
28545862 2017
19
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
20
Steroid-resistant nephrotic syndrome as the initial presentation of nail-patella syndrome: a case of a de novo LMX1B mutation. 61
28335748 2017
21
Isolated recessive nail dysplasia caused by FZD6 mutations: report of three families and review of the literature. 61
27786367 2016
22
MSX1 mutations and associated disease phenotypes: genotype-phenotype relations. 61
27381090 2016
23
Viable phenotype of ILNEB syndrome without nephrotic impairment in siblings heterozygous for unreported integrin alpha3 mutations. 61
27717396 2016
24
9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping. 61
26395556 2016
25
Hoyeraal-Hreidarsson Syndrome due to PARN Mutations: Fourteen Years of Follow-Up. 61
26810774 2016
26
Syndrome in Question. 61
26131880 2015
27
Kabuki syndrome: clinical and molecular diagnosis in the first year of life. 61
25281733 2015
28
Autosomal Dominant Robinow Syndrome 61
25577943 2015
29
Disheveled regulates precoupling of heterotrimeric G proteins to Frizzled 6. 61
24500924 2014
30
Tricho-odonto-onycho-dermal dysplasia and WNT10A mutations. 61
24458874 2014
31
Human telomeres and telomere biology disorders. 61
24993697 2014
32
Frizzled6 deficiency disrupts the differentiation process of nail development. 61
23439395 2013
33
MSX1 mutation in witkop syndrome; a case report. 61
24031111 2013
34
Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders. 61
23782086 2013
35
A novel missense mutation in the gene FZD6 underlies autosomal recessive nail dysplasia. 61
22861124 2013
36
A hypoplastic patella fracture in nail patella syndrome: a case report. 61
22800460 2012
37
FZD6 encoding the Wnt receptor frizzled 6 is mutated in autosomal-recessive nail dysplasia. 61
22211385 2012
38
Mutations in Frizzled 6 cause isolated autosomal-recessive nail dysplasia. 61
21665003 2011
39
Additional features of unique Primrose syndrome phenotype. 61
21567911 2011
40
Witkop tooth and nail syndrome: a report of three cases in a family. 61
21054511 2011
41
Ellis van creveld syndrome with synpolydactyly, an antenatal diagnosis with postnatal correlation. 61
22267994 2011
42
Wide clinical spectrum in Zimmermann-Laband syndrome. 61
21614982 2011
43
Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation. 61
20409997 2010
44
TP63-Related Disorders 61
20556892 2010
45
Nail-patella syndrome with an emphasis on the risk of renal and ocular findings. 61
20199424 2010
46
Ellis van Creveld syndrome with unusual association of essential infantile esotropia. 61
20606869 2010
47
Malformations of the index nails. 61
19094128 2009
48
Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands. 61
19876929 2009
49
Sabinas syndrome in monozygotic twins. 61
19438561 2009
50
A known SOST gene mutation causes sclerosteosis in a familial and an isolated case from Brazilian origin. 61
19072561 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 Position
1 COL17A1 NM_000494.4(COL17A1):c.4143_4144AG[1] (p.Glu1382fs) Microsatellite Pathogenic 599000 rs765243124 GRCh37: 10:105793711-105793714
GRCh38: 10:104033953-104033956
2 COL7A1 NM_000094.4(COL7A1):c.6205C>T SNV Pathogenic 17463 rs121912855 GRCh37: 3:48612651-48612651
GRCh38: 3:48575218-48575218
3 ARID1B NM_020732.3(ARID1B):c.1612C>T (p.Gln538Ter) SNV Pathogenic 374179 rs1057518951 GRCh37: 6:157150430-157150430
GRCh38: 6:156829296-156829296
4 MFN2 NM_014874.3(MFN2):c.280C>T (p.Arg94Trp) SNV Pathogenic 2276 rs119103263 GRCh37: 1:12052716-12052716
GRCh38: 1:11992659-11992659
5 COL7A1 NM_000094.4(COL7A1):c.706C>T SNV Pathogenic 17462 rs121912854 GRCh37: 3:48630348-48630348
GRCh38: 3:48592915-48592915
6 COL7A1 NM_000094.3(COL7A1):c.2005C>T (p.Arg669Ter) SNV Pathogenic 374052 rs780261665 GRCh37: 3:48627691-48627691
GRCh38: 3:48590258-48590258
7 COL7A1 NM_000094.3(COL7A1):c.425A>G (p.Lys142Arg) SNV Pathogenic 29636 rs121912856 GRCh37: 3:48630971-48630971
GRCh38: 3:48593538-48593538
8 CTSK NM_000396.4(CTSK):c.905G>A (p.Trp302Ter) SNV Pathogenic 684727 rs1571122183 GRCh37: 1:150769360-150769360
GRCh38: 1:150796884-150796884
9 CTSK NM_000396.4(CTSK):c.905G>A (p.Trp302Ter) SNV Uncertain significance 684727 rs1571122183 GRCh37: 1:150769360-150769360
GRCh38: 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

Pathways related to Nail Disorder, Nonsyndromic Congenital, 9 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.45 CTSK COL7A1 COL17A1

GO Terms for Nail Disorder, Nonsyndromic Congenital, 9

Cellular components related to Nail Disorder, Nonsyndromic Congenital, 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 basement membrane GO:0005604 8.96 COL7A1 COL17A1
2 collagen trimer GO:0005581 8.62 COL7A1 COL17A1

Biological processes related to Nail Disorder, Nonsyndromic Congenital, 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 epidermis development GO:0008544 8.62 COL7A1 COL17A1

Molecular functions related to Nail Disorder, Nonsyndromic Congenital, 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.62 COL7A1 COL17A1

Sources for Nail Disorder, Nonsyndromic Congenital, 9

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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