MCID: SLL004
MIFTS: 11

Sall4-Related Disorders

Aliases & Classifications for Sall4-Related Disorders

MalaCards integrated aliases for Sall4-Related Disorders:

Name: Sall4-Related Disorders 24

Characteristics:

GeneReviews:

24
Penetrance Penetrance is approximately 95%, but may be lower for certain pathogenic variants....

Summaries for Sall4-Related Disorders

MalaCards based summary : Sall4-Related Disorders is related to duane-radial ray syndrome and coloboma of macula. An important gene associated with Sall4-Related Disorders is SALL4 (Spalt Like Transcription Factor 4). Affiliated tissues include heart, brain and testes.

GeneReviews: NBK1373

Related Diseases for Sall4-Related Disorders

Diseases related to Sall4-Related Disorders via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 duane-radial ray syndrome 11.6
2 coloboma of macula 10.1
3 holt-oram syndrome 10.1
4 strabismus 10.1
5 polydactyly 10.1
6 renal hypoplasia 10.1
7 mechanical strabismus 10.1
8 horseshoe kidney 10.1

Graphical network of the top 20 diseases related to Sall4-Related Disorders:



Diseases related to Sall4-Related Disorders

Symptoms & Phenotypes for Sall4-Related Disorders

Drugs & Therapeutics for Sall4-Related Disorders

Search Clinical Trials , NIH Clinical Center for Sall4-Related Disorders

Genetic Tests for Sall4-Related Disorders

Anatomical Context for Sall4-Related Disorders

MalaCards organs/tissues related to Sall4-Related Disorders:

41
Heart, Brain, Testes, Kidney, Eye, Myeloid

Publications for Sall4-Related Disorders

Articles related to Sall4-Related Disorders:

(show all 39)
# Title Authors PMID Year
1
Oncofetal gene SALL4 in aggressive hepatocellular carcinoma. 4
23758232 2013
2
Targeting transcription factor SALL4 in acute myeloid leukemia by interrupting its interaction with an epigenetic complex. 4
23287862 2013
3
Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders. 4
22382802 2012
4
Human gene copy number spectra analysis in congenital heart malformations. 4
22318994 2012
5
SALL4, a stem cell factor, affects the side population by regulation of the ATP-binding cassette drug transport genes. 4
21526180 2011
6
Stem cell factor SALL4 represses the transcriptions of PTEN and SALL1 through an epigenetic repressor complex. 4
19440552 2009
7
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. 4
18784092 2008
8
Sall4 isoforms act during proximal-distal and anterior-posterior axis formation in the mouse embryo. 4
18781635 2008
9
SALL4 is a key regulator of survival and apoptosis in human leukemic cells. 4
18487508 2008
10
Multigene deletions on chromosome 20q13.13-q13.2 including SALL4 result in an expanded phenotype of Okihiro syndrome plus developmental delay. 4
17623483 2007
11
Bmi-1 is a target gene for SALL4 in hematopoietic and leukemic cells. 4
17557835 2007
12
IVIC syndrome is caused by a c.2607delA mutation in the SALL4 locus. 4
17256792 2007
13
Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. 4
17236129 2007
14
Murine inner cell mass-derived lineages depend on Sall4 function. 4
17060609 2006
15
SALL4 is directly activated by TCF/LEF in the canonical Wnt signaling pathway. 4
16899215 2006
16
The murine homolog of SALL4, a causative gene in Okihiro syndrome, is essential for embryonic stem cell proliferation, and cooperates with Sall1 in anorectal, heart, brain and kidney development. 4
16790473 2006
17
Sall4 interacts with Nanog and co-occupies Nanog genomic sites in embryonic stem cells. 4
16840789 2006
18
sall4 acts downstream of tbx5 and is required for pectoral fin outgrowth. 4
16501170 2006
19
A SALL4 zinc finger missense mutation predicted to result in increased DNA binding affinity is associated with cranial midline defects and mild features of Okihiro syndrome. 4
16402211 2006
20
A family with features overlapping Okihiro syndrome, hemifacial microsomia and isolated Duane anomaly caused by a novel SALL4 mutation. 4
16411190 2006
21
Cooperative and antagonistic interactions between Sall4 and Tbx5 pattern the mouse limb and heart. 4
16380715 2006
22
A family with Duane anomaly and distal limb abnormalities: a further family with the arthrogryposis-ophthalmoplegia syndrome. 4
16278891 2005
23
SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders. 4
16086360 2005
24
SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism. 4
15342710 2004
25
Novel mutations in the gene SALL4 provide further evidence for acro-renal-ocular and Okihiro syndromes being allelic entities, and extend the phenotypic spectrum. 4
15286162 2004
26
Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy. 4
12843316 2003
27
Expressivity of Holt-Oram syndrome is not predicted by TBX5 genotype. 4
12789647 2003
28
Thrombocytopenia-absent radius syndrome: a clinical genetic study. 4
12471199 2002
29
Okihiro syndrome is caused by SALL4 mutations. 4
12393809 2002
30
Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family. 4
12395297 2002
31
Teratogen update: thalidomide: a review, with a focus on ocular findings and new potential uses. 4
10525208 1999
32
Townes-Brocks syndrome. 4
10051003 1999
33
The Okihiro syndrome of Duane anomaly, radial ray abnormalities, and deafness. 4
4050857 1985
34
Acro-renal-ocular syndrome: autosomal dominant thumb hypoplasia, renal ectopia, and eye defect. 4
6426304 1984
35
The IVIC syndrome: a new autosomal dominant complex pleiotropic syndrome with radial ray hypoplasia, hearing impairment, external ophthalmoplegia, and thrombocytopenia. 4
7395922 1980
36
Duane syndrome and congenital upper-limb anomalies. A familial occurrence. 4
843249 1977
37
Simultaneous occurrence of the Holt-Oram and the Duane syndromes. 4
5921340 1966
38
Prenatal diagnosis of complex phenotype in a 13-week-old fetus with an interstitial multigene deletion 20q13.13.-q13.2 by chromosomal microarray. 38
28807863 2017
39
SALL4-Related Disorders 38
20301547 2004

Variations for Sall4-Related Disorders

Expression for Sall4-Related Disorders

Search GEO for disease gene expression data for Sall4-Related Disorders.

Pathways for Sall4-Related Disorders

GO Terms for Sall4-Related Disorders

Sources for Sall4-Related Disorders

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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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