Aliases & Classifications for Nsdhl-Related Disorders

MalaCards integrated aliases for Nsdhl-Related Disorders:

Name: Nsdhl-Related Disorders 25 30 6

Characteristics:

GeneReviews:

25
Penetrance Incomplete penetrance has not been reported for child syndrome; therefore, the penetrance is probably very high. of note, expressivity is highly variable; in affected females, child syndrome may manifest as minor skin changes only...

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 30 NSDHL

Anatomical Context for Nsdhl-Related Disorders

MalaCards organs/tissues related to Nsdhl-Related Disorders:

42
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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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