MCID: ATS117
MIFTS: 10

Autosomal Recessive Nail Dysplasia

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Autosomal Recessive Nail Dysplasia

MalaCards integrated aliases for Autosomal Recessive Nail Dysplasia:

Name: Autosomal Recessive Nail Dysplasia 58

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive nail dysplasia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

ICD10 via Orphanet 33 Q84.6
Orphanet 58 ORPHA280654

Summaries for Autosomal Recessive Nail Dysplasia

MalaCards based summary : Autosomal Recessive Nail Dysplasia is related to nail disorder, nonsyndromic congenital, 9 and nail disorder, nonsyndromic congenital, 1. An important gene associated with Autosomal Recessive Nail Dysplasia is FZD6 (Frizzled Class Receptor 6). Affiliated tissues include skin.

Related Diseases for Autosomal Recessive Nail Dysplasia

Diseases related to Autosomal Recessive Nail Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 nail disorder, nonsyndromic congenital, 9 10.4
2 nail disorder, nonsyndromic congenital, 1 10.2
3 nail-patella syndrome 10.0
4 erythrokeratoderma ''en cocardes'' 10.0
5 isolated nail anomaly 10.0

Graphical network of the top 20 diseases related to Autosomal Recessive Nail Dysplasia:



Diseases related to Autosomal Recessive Nail Dysplasia

Symptoms & Phenotypes for Autosomal Recessive Nail Dysplasia

Drugs & Therapeutics for Autosomal Recessive Nail Dysplasia

Search Clinical Trials , NIH Clinical Center for Autosomal Recessive Nail Dysplasia

Genetic Tests for Autosomal Recessive Nail Dysplasia

Anatomical Context for Autosomal Recessive Nail Dysplasia

MalaCards organs/tissues related to Autosomal Recessive Nail Dysplasia:

40
Skin

Publications for Autosomal Recessive Nail Dysplasia

Articles related to Autosomal Recessive Nail Dysplasia:

# Title Authors PMID Year
1
FZD6 encoding the Wnt receptor frizzled 6 is mutated in autosomal-recessive nail dysplasia. 6 61
22211385 2012
2
Mutations in Frizzled 6 cause isolated autosomal-recessive nail dysplasia. 6 61
21665003 2011
3
Recessive mutations in the gene encoding frizzled 6 cause twenty nail dystrophy--expanding the differential diagnosis for pachyonychia congenita. 6
23374899 2013
4
Association of sequence variants in frizzled-6 with autosomal recessive nail dysplasia (NDNC-10) in Pashtun families. 61
31954040 2020
5
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
6
A possible founder mutation in FZD6 gene in a Turkish family with autosomal recessive nail dysplasia. 61
30642273 2019
7
Frizzled6 deficiency disrupts the differentiation process of nail development. 61
23439395 2013
8
A novel missense mutation in the gene FZD6 underlies autosomal recessive nail dysplasia. 61
22861124 2013

Variations for Autosomal Recessive Nail Dysplasia

Expression for Autosomal Recessive Nail Dysplasia

Search GEO for disease gene expression data for Autosomal Recessive Nail Dysplasia.

Pathways for Autosomal Recessive Nail Dysplasia

GO Terms for Autosomal Recessive Nail Dysplasia

Sources for Autosomal Recessive Nail Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
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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