MCID: STB003
MIFTS: 10

Setbp1 Disorder

Categories: Rare diseases, Neuronal diseases, Mental diseases

Aliases & Classifications for Setbp1 Disorder

MalaCards integrated aliases for Setbp1 Disorder:

Name: Setbp1 Disorder 53
Setbp1-Related Disorder 53 6
Autosomal Dominant Mental Retardation 29 53
Setbp1-Related Intellectual Disability 53
Setbp1 Related Developmental Delay 53

Classifications:



Summaries for Setbp1 Disorder

NIH Rare Diseases : 53 SETBP1 disorder is a neurodevelopmental disorder characterized by intellectual disability, mild to moderate developmental delay, autism or autistic traits, and attention deficit. Speech may be absent or delayed. Physical features may include a long face and elongated head (dolichocephaly), eyes that point downwards (downslanting palpebral fissures), and a thin upper lip. SETBP1 disorder is caused by a loss-of-function mutation in one of the two copies of the SETBP1 gene. The SETBP1 gene is located on the long (q) arm of chromosome 18. Because the features of SETBP1 disorder are common, a genetic test (such as whole exome or genomesequencing) may be needed for diagnosis. A different type of mutation in the SETBP1 gene causes a different and more severe condition called Schinzel Giedion syndrome.

MalaCards based summary : Setbp1 Disorder, also known as setbp1-related disorder, is related to mental retardation, autosomal dominant 29. An important gene associated with Setbp1 Disorder is SETBP1 (SET Binding Protein 1). Affiliated tissues include testes and eye.

Wikipedia : 76 SET binding protein 1 is a protein that in humans is encoded by the SETBP1... more...

Related Diseases for Setbp1 Disorder

Diseases related to Setbp1 Disorder via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 mental retardation, autosomal dominant 29 11.2

Symptoms & Phenotypes for Setbp1 Disorder

Drugs & Therapeutics for Setbp1 Disorder

Search Clinical Trials , NIH Clinical Center for Setbp1 Disorder

Genetic Tests for Setbp1 Disorder

Anatomical Context for Setbp1 Disorder

MalaCards organs/tissues related to Setbp1 Disorder:

41
Testes, Eye

Publications for Setbp1 Disorder

Variations for Setbp1 Disorder

ClinVar genetic disease variations for Setbp1 Disorder:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SETBP1 NM_015559.2(SETBP1): c.1568delA (p.His523Leufs) deletion Pathogenic rs886041469 GRCh37 Chromosome 18, 42530873: 42530873
2 SETBP1 NM_015559.2(SETBP1): c.1568delA (p.His523Leufs) deletion Pathogenic rs886041469 GRCh38 Chromosome 18, 44950908: 44950908

Expression for Setbp1 Disorder

Search GEO for disease gene expression data for Setbp1 Disorder.

Pathways for Setbp1 Disorder

GO Terms for Setbp1 Disorder

Sources for Setbp1 Disorder

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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