MCID: WBB001
MIFTS: 23

Webb-Dattani Syndrome malady

Categories: Genetic diseases (common), Eye diseases, Nephrological diseases

Aliases & Classifications for Webb-Dattani Syndrome

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Aliases & Descriptions for Webb-Dattani Syndrome:

Name: Webb-Dattani Syndrome 50 68 25 66
Hypothalamo-Pituitary-Frontotemporal Hypoplasia with Visual and Renal Anomalies 68
 
Wedas 68

Classifications:



External Ids:

OMIM50 615926
MedGen35 CN207526

Summaries for Webb-Dattani Syndrome

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OMIM:50 Webb-Dattani syndrome is an autosomal recessive disorder characterized by frontotemporal hypoplasia, globally delayed... (615926) more...

MalaCards based summary: Webb-Dattani Syndrome, also known as hypothalamo-pituitary-frontotemporal hypoplasia with visual and renal anomalies, is related to deafness, autosomal recessive 48, and has symptoms including muscle spasticity, seizures and neurogenic bladder. An important gene associated with Webb-Dattani Syndrome is ARNT2 (Aryl Hydrocarbon Receptor Nuclear Translocator 2). Affiliated tissues include pituitary, kidney and brain.

UniProtKB/Swiss-Prot:68 Webb-Dattani syndrome: A disorder characterized by postnatal microcephaly with fronto- temporal lobe hypoplasia, multiple pituitary hormone deficiency, global developmental delay, seizures, severe visual impairment and abnormalities of the kidneys and urinary tract.

Related Diseases for Webb-Dattani Syndrome

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Diseases related to Webb-Dattani Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1deafness, autosomal recessive 489.5ARNT2, MIR5572

Symptoms for Webb-Dattani Syndrome

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Symptoms by clinical synopsis from OMIM:

615926

Clinical features from OMIM:

615926

HPO human phenotypes related to Webb-Dattani Syndrome:

(show all 19)
id Description Frequency HPO Source Accession
1 neurogenic bladder HP:0000011
2 cryptorchidism HP:0000028
3 vesicoureteral reflux HP:0000076
4 hydronephrosis HP:0000126
5 microcephaly HP:0000252
6 retrognathia HP:0000278
7 deeply set eye HP:0000490
8 growth hormone deficiency HP:0000824
9 diabetes insipidus HP:0000873
10 seizures HP:0001250
11 spasticity HP:0001257
12 global developmental delay HP:0001263
13 gastroesophageal reflux HP:0002020
14 hypoplasia of the corpus callosum HP:0002079
15 hip dislocation HP:0002827
16 hypernatremia HP:0003228
17 pituitary hypothyroidism HP:0008245
18 prominent forehead HP:0011220
19 delayed myelination HP:0012448

UMLS symptoms related to Webb-Dattani Syndrome:


muscle spasticity, seizures

Drugs & Therapeutics for Webb-Dattani Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Webb-Dattani Syndrome

Genetic Tests for Webb-Dattani Syndrome

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Genetic tests related to Webb-Dattani Syndrome:

id Genetic test Affiliating Genes
1 Webb-Dattani Syndrome25

Anatomical Context for Webb-Dattani Syndrome

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MalaCards organs/tissues related to Webb-Dattani Syndrome:

34
Pituitary, Kidney, Brain, Temporal lobe, Eye

Animal Models for Webb-Dattani Syndrome or affiliated genes

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Publications for Webb-Dattani Syndrome

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Variations for Webb-Dattani Syndrome

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Expression for genes affiliated with Webb-Dattani Syndrome

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Search GEO for disease gene expression data for Webb-Dattani Syndrome.

Pathways for genes affiliated with Webb-Dattani Syndrome

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GO Terms for genes affiliated with Webb-Dattani Syndrome

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Cellular components related to Webb-Dattani Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1transcription factor complexGO:00056679.1ARNT2, MIR5572

Biological processes related to Webb-Dattani Syndrome according to GeneCards Suite gene sharing:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1in utero embryonic developmentGO:00017019.6ARNT2, MIR5572
2positive regulation of transcription, DNA-templatedGO:00458939.5ARNT2, MIR5572
3response to estradiolGO:00323559.3ARNT2, MIR5572
4negative regulation of apoptotic processGO:00430669.3ARNT2, MIR5572
5central nervous system developmentGO:00074179.2ARNT2, MIR5572
6brain developmentGO:00074209.2ARNT2, MIR5572
7positive regulation of transcription from RNA polymerase II promoterGO:00459449.1ARNT2, MIR5572
8response to hypoxiaGO:00016669.0ARNT2, MIR5572
9positive regulation of cell proliferationGO:00082848.8ARNT2, MIR5572

Molecular functions related to Webb-Dattani Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1aryl hydrocarbon receptor bindingGO:00171629.7ARNT2, MIR5572
2transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00010779.4ARNT2, MIR5572
3transcription factor activity, sequence-specific DNA bindingGO:00037009.1ARNT2, MIR5572
4protein heterodimerization activityGO:00469829.1ARNT2, MIR5572

Sources for Webb-Dattani Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet