MCID: STB002
MIFTS: 25

Satb2-Associated Syndrome

Categories: Rare diseases, Fetal diseases

Aliases & Classifications for Satb2-Associated Syndrome

MalaCards integrated aliases for Satb2-Associated Syndrome:

Name: Satb2-Associated Syndrome 24 53 25
2q33.1 Microdeletion Syndrome 24 25 59
Glass Syndrome 24 53 25
Chromosome 2q32-Q33 Deletion Syndrome 25 73
2q32 Deletion Syndrome 24 25
Sas 53 25
2q32-Q33 Microdeletion Syndrome 53
2q32q33 Microdeletion Syndromes 53
Monosomy 2q32-Q33 53
Monosomy 2q33.1 59
Del(2)(q32q33) 53
Satb2 Syndrome 53
Del(2)(q33.1) 59
Del(2)(q32) 53

Characteristics:

Orphanet epidemiological data:

59
2q33.1 microdeletion syndrome
Inheritance: Not applicable; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 59 ORPHA251028
ICD10 via Orphanet 34 Q93.5
UMLS 73 C2676739

Summaries for Satb2-Associated Syndrome

NIH Rare Diseases : 53 The SATB2-associated syndrome (SAS) is a recently described condition, characterized by developmental delay, intellectual disability with absent or limited language skills, palatal and dental abnormalities, behavioral problems, and unusual facial features. The main symptoms can be remembered using the acronym S.A.T.B.2 (S, Severe speech anomalies; A, Abnormalities of the palate; T, Teeth anomalies; B, Behavioral issues with or without Bone or Brain anomalies, and age of onset before 2 years of age). Other features may include osteopenia and Rett-like problems. The SATB2 gene is located in chromosome 2q32 (the region designated as q32 on the long ("q") arm of chromosome 2), and many of the features are similar to the "2q33.1 microdeletion syndrome". This gene is important for the development of the face, brain and bone.  Alterations to the SATB2 gene can result from different mechanisms, such as contiguous deletions (missing pieces of the chromosome 2 that include the SATB2 gene and other genes that are close together), duplications (extra pieces of genetic material) translocations (rearrangements involving the gene), or point mutations (a mutation that only affects a single nucleotide of the DNA). Treatment depends on the symptoms, and may involve behavioral and physical therapy, surgery for cleft palate repair and orthodontic treatment. The organization UNIQUE has published information about SATB2-associated syndrome.

MalaCards based summary : Satb2-Associated Syndrome, also known as 2q33.1 microdeletion syndrome, is related to glass syndrome and sinoatrial node disease, and has symptoms including thin, sparse hair An important gene associated with Satb2-Associated Syndrome is SATB2 (SATB Homeobox 2). Affiliated tissues include brain, bone and colon.

Genetics Home Reference : 25 SATB2-associated syndrome is a condition that affects several body systems. It is characterized by intellectual disability, severe speech problems, dental abnormalities, other abnormalities of the head and face (craniofacial anomalies), and behavioral problems. Some of the common features can be described using the acronym SATB2 (which is the name of the gene involved in the condition): severe speech anomalies, abnormalities of the palate, teeth anomalies, behavioral issues with or without bone or brain anomalies, and onset before age 2.

Wikipedia : 76 Special AT-rich sequence-binding protein 2 (SATB2) also known as DNA-binding protein SATB2 is a protein... more...

GeneReviews: NBK458647

Related Diseases for Satb2-Associated Syndrome

Graphical network of the top 20 diseases related to Satb2-Associated Syndrome:



Diseases related to Satb2-Associated Syndrome

Symptoms & Phenotypes for Satb2-Associated Syndrome

UMLS symptoms related to Satb2-Associated Syndrome:


thin, sparse hair

Drugs & Therapeutics for Satb2-Associated Syndrome

Search Clinical Trials , NIH Clinical Center for Satb2-Associated Syndrome

Genetic Tests for Satb2-Associated Syndrome

Anatomical Context for Satb2-Associated Syndrome

MalaCards organs/tissues related to Satb2-Associated Syndrome:

41
Brain, Bone, Colon

Publications for Satb2-Associated Syndrome

Articles related to Satb2-Associated Syndrome:

(show all 12)
# Title Authors Year
1
Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome. ( 29436146 )
2018
2
SATB2-Associated Syndrome: a Case Report of a De Novo Nonsense Mutation in SATB2 from China and Review of Literature. ( 29739092 )
2018
3
SATB2-associated syndrome: Mechanisms, phenotype, and practical recommendations. ( 27774744 )
2017
4
Genotype and phenotype in 12 additional individuals with SATB2-associated syndrome. ( 28139846 )
2017
5
Bone health and SATB2-associated syndrome. ( 28787087 )
2017
6
SATB2-associated syndrome presenting with Rett-like phenotypes. ( 26596517 )
2016
7
Further supporting evidence for the SATB2-associated syndrome found through whole exome sequencing. ( 25885067 )
2015
8
Intragenic duplication--a novel causative mechanism for SATB2-associated syndrome. ( 25251319 )
2014
9
Case series: 2q33.1 microdeletion syndrome--further delineation of the phenotype. ( 21343628 )
2011
10
Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome. ( 19668335 )
2009
11
Another patient with a de novo deletion further delineates the 2q33.1 microdeletion syndrome. ( 19284984 )
2009
12
SATB2-Associated Syndrome ( 29023086 )
1993

Variations for Satb2-Associated Syndrome

Copy number variations for Satb2-Associated Syndrome from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 140542 2 199837205 200020800 Deletion SATB2 2q33.1 microdeletion syndrome

Expression for Satb2-Associated Syndrome

Search GEO for disease gene expression data for Satb2-Associated Syndrome.

Pathways for Satb2-Associated Syndrome

GO Terms for Satb2-Associated Syndrome

Sources for Satb2-Associated Syndrome

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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