Aliases & Classifications for Nsdhl-Related Disorders

MalaCards integrated aliases for Nsdhl-Related Disorders:

Name: Nsdhl-Related Disorders 24 29 6

Characteristics:

GeneReviews:

24
Penetrance Incomplete penetrance has not been reported for child syndrome; therefore, the penetrance is probably very high. of note, expressivity is highly variable and may only manifest as minor skin changes in affected females...

Summaries for Nsdhl-Related Disorders

MalaCards based summary : Nsdhl-Related Disorders and has symptoms including difficulty sleeping An important gene associated with Nsdhl-Related Disorders is NSDHL (NAD(P) Dependent Steroid Dehydrogenase-Like). Affiliated tissues include skin.

GeneReviews: NBK51754

Related Diseases for Nsdhl-Related Disorders

Symptoms & Phenotypes for Nsdhl-Related Disorders

UMLS symptoms related to Nsdhl-Related Disorders:


difficulty sleeping

Drugs & Therapeutics for Nsdhl-Related Disorders

Search Clinical Trials , NIH Clinical Center for Nsdhl-Related Disorders

Genetic Tests for Nsdhl-Related Disorders

Genetic tests related to Nsdhl-Related Disorders:

# Genetic test Affiliating Genes
1 Nsdhl-Related Disorders 29 NSDHL

Anatomical Context for Nsdhl-Related Disorders

MalaCards organs/tissues related to Nsdhl-Related Disorders:

41
Skin

Publications for Nsdhl-Related Disorders

Articles related to Nsdhl-Related Disorders:

# Title Authors Year
1
NSDHL-Related Disorders ( 21290788 )
1993

Variations for Nsdhl-Related Disorders

ClinVar genetic disease variations for Nsdhl-Related Disorders:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NSDHL NM_001129765.1(NSDHL): c.1098dupT (p.Arg367Serfs) duplication Pathogenic rs121909834 GRCh37 Chromosome X, 152037636: 152037636
2 NSDHL NM_001129765.1(NSDHL): c.1098dupT (p.Arg367Serfs) duplication Pathogenic rs121909834 GRCh38 Chromosome X, 152869092: 152869092
3 NSDHL NM_001129765.1(NSDHL): c.696_698delGAA (p.Lys232del) deletion Pathogenic rs121909833 GRCh37 Chromosome X, 152036124: 152036126
4 NSDHL NM_001129765.1(NSDHL): c.696_698delGAA (p.Lys232del) deletion Pathogenic rs121909833 GRCh38 Chromosome X, 152867580: 152867582

Expression for Nsdhl-Related Disorders

Search GEO for disease gene expression data for Nsdhl-Related Disorders.

Pathways for Nsdhl-Related Disorders

GO Terms for Nsdhl-Related Disorders

Sources for Nsdhl-Related Disorders

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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