WEDAS
MCID: WBB001
MIFTS: 22

Webb-Dattani Syndrome (WEDAS)

Categories: Endocrine diseases, Eye diseases, Genetic diseases, Nephrological diseases

Aliases & Classifications for Webb-Dattani Syndrome

MalaCards integrated aliases for Webb-Dattani Syndrome:

Name: Webb-Dattani Syndrome 58 76 38 30 41 74
Hypothalamo-Pituitary-Frontotemporal Hypoplasia with Visual and Renal Anomalies 58 76
Wedas 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset soon after birth
one consanguineous saudi arabian family has been reported (last curated august 2014)


HPO:

33
webb-dattani syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Webb-Dattani Syndrome

OMIM : 58 Webb-Dattani syndrome is an autosomal recessive disorder characterized by frontotemporal hypoplasia, globally delayed development, and pituitary and hypothalamic insufficiency due to hypoplastic development of these brain regions. Patients present soon after birth with multiple pituitary hormonal deficiencies and subsequently develop microcephaly, seizures, and spasticity. Other features include postretinal blindness and renal abnormalities (summary by Webb et al., 2013). (615926)

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

UniProtKB/Swiss-Prot : 76 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

Symptoms & Phenotypes for Webb-Dattani Syndrome

Human phenotypes related to Webb-Dattani Syndrome:

33 (show all 20)
# Description HPO Frequency HPO Source Accession
1 seizures 33 HP:0001250
2 spasticity 33 HP:0001257
3 global developmental delay 33 HP:0001263
4 blindness 33 HP:0000618
5 gastroesophageal reflux 33 HP:0002020
6 prominent forehead 33 HP:0011220
7 retrognathia 33 HP:0000278
8 cryptorchidism 33 HP:0000028
9 hip dislocation 33 HP:0002827
10 deeply set eye 33 HP:0000490
11 diabetes insipidus 33 HP:0000873
12 vesicoureteral reflux 33 HP:0000076
13 hydronephrosis 33 HP:0000126
14 hypoplasia of the corpus callosum 33 HP:0002079
15 pituitary hypothyroidism 33 HP:0008245
16 postnatal microcephaly 33 HP:0005484
17 neurogenic bladder 33 HP:0000011
18 growth hormone deficiency 33 HP:0000824
19 hypernatremia 33 HP:0003228
20 delayed myelination 33 HP:0012448

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
spasticity
delayed myelination
thin pituitary stalk
thin corpus callosum
more
Head And Neck Face:
prominent forehead
retrognathia
well-grooved philtrum

Skeletal Pelvis:
hip dislocation

Genitourinary Kidneys:
vesicoureteral reflux
hydronephrosis

Laboratory Abnormalities:
hypernatremia

Growth Height:
poor linear growth

Abdomen Gastrointestinal:
gastroesophageal reflux

Genitourinary External Genitalia Male:
cryptorchidism

Endocrine Features:
diabetes insipidus
growth hormone deficiency
hypernatremia
hypothyroidism, central
thyroid stimulating hormone deficiency
more
Genitourinary Bladder:
neurogenic bladder

Head And Neck Eyes:
deep-set eyes
blindness, postretinal

Head And Neck Head:
microcephaly, postnatal (up to -6.4 sd)

Clinical features from OMIM:

615926

UMLS symptoms related to Webb-Dattani Syndrome:


seizures, muscle spasticity

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:

# Genetic test Affiliating Genes
1 Webb-Dattani Syndrome 30 ARNT2

Anatomical Context for Webb-Dattani Syndrome

MalaCards organs/tissues related to Webb-Dattani Syndrome:

42
Pituitary, Brain, Kidney, Eye, Temporal Lobe, Thyroid

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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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