NDNC10
MCID: NLD005
MIFTS: 26

Nail Disorder, Nonsyndromic Congenital, 10, (NDNC10) malady

Categories: Genetic diseases, Skin diseases, Rare diseases

Aliases & Classifications for Nail Disorder, Nonsyndromic Congenital, 10,

Aliases & Descriptions for Nail Disorder, Nonsyndromic Congenital, 10,:

Name: Nail Disorder, Nonsyndromic Congenital, 10, 54 13
Nail Disorder, Nonsyndromic Congenital, 10 54 25 69
Nail Disorder, Non-Syndromic Congenital, 10 66 29
Nonsyndromic Congenital Nail Disorder 10 12 25
Claw-Shaped Nails 25 66
Onycholysis 42 69
Ndnc10 25 66
Onychauxis, Hyponychia, and Onycholysis 25
Onychauxis Hyponychia and Onycholysis 66
Autosomal Recessive Nail Dysplasia 56

Characteristics:

Orphanet epidemiological data:

56
autosomal recessive nail dysplasia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

HPO:

32
nail disorder, nonsyndromic congenital, 10,:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 56  
Rare skin diseases


External Ids:

OMIM 54 614157
Disease Ontology 12 DOID:0080088
Orphanet 56 ORPHA280654
ICD10 via Orphanet 34 Q84.6
MedGen 40 C3279974
MeSH 42 D054039
ICD10 33 L60.1

Summaries for Nail Disorder, Nonsyndromic Congenital, 10,

UniProtKB/Swiss-Prot : 66 Nail disorder, non-syndromic congenital, 10: A nail disorder characterized by a variable degree of onychauxis (thick nails), hyponychia, and onycholysis of all nails, with claw- shaped fingernails in some individuals. No other anomalies of ectodermal tissues, including hair, teeth, sweat glands, or skin, are noted, and individuals with dysplastic nails have normal hearing and normal psychomotor development.

MalaCards based summary : Nail Disorder, Nonsyndromic Congenital, 10,, also known as nail disorder, nonsyndromic congenital, 10, is related to ectodermal dysplasia 3, witkop type and nail disorder, nonsyndromic congenital, 1, and has symptoms including onycholysis, onychauxis and onychomadesis. An important gene associated with Nail Disorder, Nonsyndromic Congenital, 10, is FZD6 (Frizzled Class Receptor 6). The drugs Triamcinolone and Apremilast have been mentioned in the context of this disorder. Affiliated tissues include skin.

Genetics Home Reference : 25 Nonsyndromic congenital nail disorder 10 is a condition that affects the fingernails and toenails. Affected individuals have extremely thick nails (onychauxis) that separate from the underlying nail bed (onycholysis) and can appear claw-like. Some fingers and toes may be missing part of the nail (hyponychia).

OMIM : 54 Nonsyndromic congenital nail disorder-10 is characterized by onychauxis (thick nails), hyponychia, and onycholysis of... (614157) more...

Related Diseases for Nail Disorder, Nonsyndromic Congenital, 10,

Graphical network of the top 20 diseases related to Nail Disorder, Nonsyndromic Congenital, 10,:



Diseases related to Nail Disorder, Nonsyndromic Congenital, 10,

Symptoms & Phenotypes for Nail Disorder, Nonsyndromic Congenital, 10,

Symptoms by clinical synopsis from OMIM:

614157

Clinical features from OMIM:

614157

Human phenotypes related to Nail Disorder, Nonsyndromic Congenital, 10,:

32
id Description HPO Frequency HPO Source Accession
1 onycholysis 32 HP:0001806
2 onychauxis 32 HP:0012542

UMLS symptoms related to Nail Disorder, Nonsyndromic Congenital, 10,:


onychomadesis, thin nail, nail bed hemorrhage

Drugs & Therapeutics for Nail Disorder, Nonsyndromic Congenital, 10,

Drugs for Nail Disorder, Nonsyndromic Congenital, 10, (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 27)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
2
Apremilast Approved, Investigational Phase 4 608141-41-9 11561674
3 Anti-Inflammatory Agents Phase 4
4
Clobetasol Phase 4 25122-46-7 32798 5311051
5 EMLA Phase 4
6 glucocorticoids Phase 4
7 Hormone Antagonists Phase 4
8 Hormones Phase 4
9 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
10 Immunosuppressive Agents Phase 4
11 triamcinolone acetonide Phase 4
12 Triamcinolone diacetate Phase 4
13 Triamcinolone hexacetonide Phase 4
14 Analgesics Phase 4
15 Analgesics, Non-Narcotic Phase 4
16 Anti-Inflammatory Agents, Non-Steroidal Phase 4
17 Antirheumatic Agents Phase 4
18 Peripheral Nervous System Agents Phase 4
19
Miconazole Approved, Investigational, Vet_approved Phase 3,Phase 1 22916-47-8 4189
20
Tavaborole Approved Phase 3 174671-46-6
21
Docetaxel Approved May 1996, Investigational Phase 3 114977-28-5 148124 9877265
22 Antimitotic Agents Phase 3
23 Antifungal Agents Phase 3,Phase 1
24 Anti-Infective Agents Phase 3,Phase 1
25 Pharmaceutical Solutions Phase 3
26
Terbinafine Approved, Investigational, Vet_approved Phase 1 91161-71-6 5402 1549008
27
Dimenhydrinate Approved 523-87-5 441281

Interventional clinical trials:


id Name Status NCT ID Phase
1 Comparison of Efficacy of Intralesional Triamcinolone Injection and Clobetasol Propionate Ointment for Psoriatic Nails Completed NCT01703325 Phase 4
2 An Investigator Initiated Open Label Study Evaluating the Efficacy and Tolerability of Oral Apremilast for the Treatment of Nail Psoriasis Not yet recruiting NCT03022617 Phase 4
3 Evaluation of the Cryotherapy in the Prevention of Nails Toxicity Induced by Taxotere® in Breast or Prostate Cancer Completed NCT00925418 Phase 3
4 Efficacy and Safety of AN2690 Topical Solution to Treat Onychomycosis of the Toenail Completed NCT01302119 Phase 3
5 Efficacy and Safety Evaluation of AN2690 Topical Solution to Treat Onychomycosis of the Toenail Completed NCT01270971 Phase 3
6 Safety and Pharmacokinetics of Terbinafine Hydrogen Chloride (HCl) Nail Lacquer in Patients With Onychomycosis Completed NCT00691184 Phase 1
7 A Trial of Evonail® Solution for Prevention or Treatment of Onycholysis Completed NCT02670603
8 Distal Erosions and Nail Psoriasis Recruiting NCT02813720
9 Evaluation of Cryoprotection Induced Nail Toxicity Docetaxel Low Cumulative Dose Recruiting NCT02283983

Search NIH Clinical Center for Nail Disorder, Nonsyndromic Congenital, 10,

Cochrane evidence based reviews: onycholysis

Genetic Tests for Nail Disorder, Nonsyndromic Congenital, 10,

Genetic tests related to Nail Disorder, Nonsyndromic Congenital, 10,:

id Genetic test Affiliating Genes
1 Nail Disorder, Nonsyndromic Congenital, 10 29

Anatomical Context for Nail Disorder, Nonsyndromic Congenital, 10,

MalaCards organs/tissues related to Nail Disorder, Nonsyndromic Congenital, 10,:

39
Skin

Publications for Nail Disorder, Nonsyndromic Congenital, 10,

Variations for Nail Disorder, Nonsyndromic Congenital, 10,

UniProtKB/Swiss-Prot genetic disease variations for Nail Disorder, Nonsyndromic Congenital, 10,:

66
id Symbol AA change Variation ID SNP ID
1 FZD6 p.Arg511Cys VAR_066398 rs151339003

ClinVar genetic disease variations for Nail Disorder, Nonsyndromic Congenital, 10,:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 FZD6 NM_003506.3(FZD6): c.1750G> T (p.Glu584Ter) single nucleotide variant Pathogenic rs151339002 GRCh37 Chromosome 8, 104342091: 104342091
2 FZD6 NM_003506.3(FZD6): c.1531C> T (p.Arg511Cys) single nucleotide variant Pathogenic rs151339003 GRCh37 Chromosome 8, 104340634: 104340634

Expression for Nail Disorder, Nonsyndromic Congenital, 10,

Search GEO for disease gene expression data for Nail Disorder, Nonsyndromic Congenital, 10,.

Pathways for Nail Disorder, Nonsyndromic Congenital, 10,

GO Terms for Nail Disorder, Nonsyndromic Congenital, 10,

Sources for Nail Disorder, Nonsyndromic Congenital, 10,

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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