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 58 6

Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

Orphanet 58 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:

40
Skin

Publications for Isolated Nail Anomaly

Articles related to Isolated Nail Anomaly:

(showing 1, show less)
# Title Authors PMID Year
1
A novel missense mutation in the gene FZD6 underlies autosomal recessive nail dysplasia. 61
22861124 2013

Variations for Isolated Nail Anomaly

ClinVar genetic disease variations for Isolated Nail Anomaly:

6 (showing 1, show less) ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC25A16 NM_152707.4(SLC25A16):c.92G>T (p.Arg31Leu)SNV Conflicting interpretations of pathogenicity 545498 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 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
Content
Loading form....