MCID: ISL149
MIFTS: 6

Isolated Nail Anomaly

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Isolated Nail Anomaly

MalaCards integrated aliases for Isolated Nail Anomaly:

Name: Isolated Nail Anomaly 59 6

Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

Orphanet 59 ORPHA79369

Summaries for Isolated Nail Anomaly

MalaCards based summary : Isolated Nail Anomaly An important gene associated with Isolated Nail Anomaly is SLC25A16 (Solute Carrier Family 25 Member 16). Affiliated tissues include skin.

Related Diseases for Isolated Nail Anomaly

Symptoms & Phenotypes for Isolated Nail Anomaly

Drugs & Therapeutics for Isolated Nail Anomaly

Search Clinical Trials , NIH Clinical Center for Isolated Nail Anomaly

Genetic Tests for Isolated Nail Anomaly

Anatomical Context for Isolated Nail Anomaly

MalaCards organs/tissues related to Isolated Nail Anomaly:

41
Skin

Publications for Isolated Nail Anomaly

Articles related to Isolated Nail Anomaly:

# Title Authors PMID Year
1
A novel missense mutation in the gene FZD6 underlies autosomal recessive nail dysplasia. 38
22861124 2013

Variations for Isolated Nail Anomaly

ClinVar genetic disease variations for Isolated Nail Anomaly:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SLC25A16 NM_152707.4(SLC25A16): c.92G> T (p.Arg31Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs771745123 10:70287041-70287041 10:68527284-68527284

Expression for Isolated Nail Anomaly

Search GEO for disease gene expression data for Isolated Nail Anomaly.

Pathways for Isolated Nail Anomaly

GO Terms for Isolated Nail Anomaly

Sources for Isolated Nail Anomaly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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