MCID: STB003
MIFTS: 10

Setbp1 Disorder

Categories: Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Setbp1 Disorder

MalaCards integrated aliases for Setbp1 Disorder:

Name: Setbp1 Disorder 54
Setbp1-Related Disorder 54 6
Autosomal Dominant Mental Retardation 29 54
Setbp1-Related Intellectual Disability 54
Setbp1 Related Developmental Delay 54

Classifications:



Summaries for Setbp1 Disorder

NIH Rare Diseases : 54 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 : 77 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 11.4

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:

42
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 GRCh38 Chromosome 18, 44950908: 44950908
2 SETBP1 NM_015559.2(SETBP1): c.1568delA (p.His523Leufs) deletion Pathogenic rs886041469 GRCh37 Chromosome 18, 42530873: 42530873

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 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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