WEDAS
MCID: WBB001
MIFTS: 21

Webb-Dattani Syndrome (WEDAS) 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 52 70 27 68
Hypothalamo-Pituitary-Frontotemporal Hypoplasia with Visual and Renal Anomalies 70
 
Wedas 70

Characteristics:

HPO:

64
webb-dattani syndrome:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 615926
MedGen37 CN207526

Summaries for Webb-Dattani Syndrome

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OMIM:52 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 usher syndrome, type ij, 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), and among its related pathways are Cytochrome P450 - arranged by substrate type and Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). Affiliated tissues include pituitary, kidney and brain.

UniProtKB/Swiss-Prot:70 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
1usher syndrome, type ij9.8ARNT2, MIR5572

Symptoms & Phenotypes for Webb-Dattani Syndrome

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Symptoms by clinical synopsis from OMIM:

615926

Clinical features from OMIM:

615926

Human phenotypes related to Webb-Dattani Syndrome:

 64 (show all 20)
id Description HPO Frequency HPO Source Accession
1 neurogenic bladder64 HP:0000011
2 cryptorchidism64 HP:0000028
3 vesicoureteral reflux64 HP:0000076
4 hydronephrosis64 HP:0000126
5 microcephaly64 HP:0000252
6 retrognathia64 HP:0000278
7 deeply set eye64 HP:0000490
8 growth hormone deficiency64 HP:0000824
9 diabetes insipidus64 HP:0000873
10 seizures64 HP:0001250
11 spasticity64 HP:0001257
12 global developmental delay64 HP:0001263
13 gastroesophageal reflux64 HP:0002020
14 hypoplasia of the corpus callosum64 HP:0002079
15 hip dislocation64 HP:0002827
16 hypernatremia64 HP:0003228
17 postnatal microcephaly64 HP:0005484
18 pituitary hypothyroidism64 HP:0008245
19 prominent forehead64 HP:0011220
20 delayed myelination64 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 Syndrome27

Anatomical Context for Webb-Dattani Syndrome

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MalaCards organs/tissues related to Webb-Dattani Syndrome:

36
Pituitary, Kidney, Brain, Temporal lobe, Eye

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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Sources for Webb-Dattani Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet