MRD29
MCID: STB003
MIFTS: 12

Setbp1 Disorder (MRD29)

Categories: Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Setbp1 Disorder

MalaCards integrated aliases for Setbp1 Disorder:

Name: Setbp1 Disorder 52 25
Setbp1-Related Disorder 52 25 6
Setbp1-Related Intellectual Disability 52 25
Setbp1 Related Developmental Delay 52 25
Mental Retardation, Autosomal Dominant 29 25
Autosomal Dominant Mental Retardation 29 52
Mrd29 25

Classifications:



Summaries for Setbp1 Disorder

Genetics Home Reference : 25 SETBP1 disorder is a condition that involves speech and language problems, intellectual disability, and distinctive facial features. In people with SETBP1 disorder, problems with expressive language skills (vocabulary and the production of speech) are generally more severely affected than receptive language skills (the ability to understand speech). Speech development may be limited to a few words or no speech. Affected individuals often communicate using gestures or by mimicking the expressions of others. Individuals with SETBP1 disorder have intellectual disability that can range from mild to moderate. They may also have behavioral problems, such as attention-deficit/hyperactivity disorder (ADHD) or autistic behaviors that affect communication and social interaction. Affected individuals may have weak muscle tone (hypotonia); delayed development of motor skills, such as sitting, standing, and walking; or recurrent seizures (epilepsy). Distinctive facial features in people with SETBP1 disorder can include a long face, a high forehead, eyebrows that grow together in the middle (synophrys), short eye openings (short palpebral fissures), skin folds covering the inner corner of the eyes (epicanthal folds), droopy eyelids (ptosis), puffiness of the skin around the eyes (periorbital fullness), small nostrils, a high nasal bridge, a broad tip of the nose, a thin upper lip, a high arch in the roof of the mouth (high-arched palate), and a small chin.

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 eye, skin and testes.

NIH Rare Diseases : 52 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 genome sequencing ) 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 .

Wikipedia : 74 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 12.9

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:

40
Eye, Skin, Testes

Publications for Setbp1 Disorder

Articles related to Setbp1 Disorder:

# Title Authors PMID Year
1
Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome. 52
21037274 2011
2
The establishment and evaluation of a new model for the prediction of Children B-ALL based on TARGET: A SQUIRE-compliant study. 61
32384487 2020

Variations for Setbp1 Disorder

ClinVar genetic disease variations for Setbp1 Disorder:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SETBP1 NM_015559.3(SETBP1):c.1568del (p.His523fs)deletion Pathogenic 280223 rs886041469 18:42530873-42530873 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 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
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