MCID: WBB001
MIFTS: 22

Webb-Dattani Syndrome

Categories: Genetic diseases, Eye diseases, Nephrological diseases

Aliases & Classifications for Webb-Dattani Syndrome

MalaCards integrated aliases for Webb-Dattani Syndrome:

Name: Webb-Dattani Syndrome 57 75 37 29 40 73
Hypothalamo-Pituitary-Frontotemporal Hypoplasia with Visual and Renal Anomalies 57 75
Wedas 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
webb-dattani syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Webb-Dattani Syndrome

OMIM : 57 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 muscle spasticity and seizures. An important gene associated with Webb-Dattani Syndrome is ARNT2 (Aryl Hydrocarbon Receptor Nuclear Translocator 2). Affiliated tissues include pituitary, kidney and brain, and related phenotypes are neurogenic bladder and cryptorchidism

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Webb-Dattani Syndrome:

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

# Genetic test Affiliating Genes
1 Webb-Dattani Syndrome 29 ARNT2

Anatomical Context for Webb-Dattani Syndrome

MalaCards organs/tissues related to Webb-Dattani Syndrome:

41
Pituitary, Kidney, Brain, Temporal Lobe, Eye, 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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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