WEDAS
MCID: WBB001
MIFTS: 21

Webb-Dattani Syndrome (WEDAS) malady

Categories: Genetic diseases, Eye diseases, Nephrological diseases

Aliases & Classifications for Webb-Dattani Syndrome

Aliases & Descriptions for Webb-Dattani Syndrome:

Name: Webb-Dattani Syndrome 54 66 29 69
Hypothalamo-Pituitary-Frontotemporal Hypoplasia with Visual and Renal Anomalies 66
Wedas 66

Characteristics:

HPO:

32
webb-dattani syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 615926
MedGen 40 CN207526

Summaries for Webb-Dattani Syndrome

OMIM : 54 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 seizures, spasticity and global developmental delay. An important gene associated with Webb-Dattani Syndrome is ARNT2 (Aryl Hydrocarbon Receptor Nuclear Translocator 2), and among its related pathways/superpathways 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 : 66 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

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

id Related Disease Score Top Affiliating Genes
1 usher syndrome, type ij 9.8 ARNT2 MIR5572

Symptoms & Phenotypes for Webb-Dattani Syndrome

Symptoms by clinical synopsis from OMIM:

615926

Clinical features from OMIM:

615926

Human phenotypes related to Webb-Dattani Syndrome:

32 (show all 20)
id Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 spasticity 32 HP:0001257
3 global developmental delay 32 HP:0001263
4 microcephaly 32 HP:0000252
5 gastroesophageal reflux 32 HP:0002020
6 prominent forehead 32 HP:0011220
7 retrognathia 32 HP:0000278
8 cryptorchidism 32 HP:0000028
9 hip dislocation 32 HP:0002827
10 deeply set eye 32 HP:0000490
11 diabetes insipidus 32 HP:0000873
12 vesicoureteral reflux 32 HP:0000076
13 hydronephrosis 32 HP:0000126
14 hypoplasia of the corpus callosum 32 HP:0002079
15 pituitary hypothyroidism 32 HP:0008245
16 neurogenic bladder 32 HP:0000011
17 growth hormone deficiency 32 HP:0000824
18 hypernatremia 32 HP:0003228
19 postnatal microcephaly 32 HP:0005484
20 delayed myelination 32 HP:0012448

UMLS symptoms related to Webb-Dattani Syndrome:


muscle spasticity, seizures

Drugs & Therapeutics for Webb-Dattani Syndrome

Search Clinical Trials , NIH Clinical Center for Webb-Dattani Syndrome

Genetic Tests for Webb-Dattani Syndrome

Genetic tests related to Webb-Dattani Syndrome:

id Genetic test Affiliating Genes
1 Webb-Dattani Syndrome 29

Anatomical Context for Webb-Dattani Syndrome

MalaCards organs/tissues related to Webb-Dattani Syndrome:

39
Pituitary, Kidney, Brain, Temporal Lobe, Eye

Publications for Webb-Dattani Syndrome

Variations for Webb-Dattani Syndrome

Expression for Webb-Dattani Syndrome

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

Pathways for Webb-Dattani Syndrome

GO Terms for Webb-Dattani Syndrome

Sources for Webb-Dattani Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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