MCID: WBB001
MIFTS: 22

Webb-Dattani Syndrome

Categories: Genetic diseases, Nephrological diseases, Eye diseases

Aliases & Classifications for Webb-Dattani Syndrome

MalaCards integrated aliases for Webb-Dattani Syndrome:

Name: Webb-Dattani Syndrome 53 71 36 28 69
Hypothalamo-Pituitary-Frontotemporal Hypoplasia with Visual and Renal Anomalies 53 71
Wedas 53 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

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


HPO:

31
webb-dattani syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Webb-Dattani Syndrome

OMIM : 53 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, spasticity and global developmental delay. An important gene associated with Webb-Dattani Syndrome is ARNT2 (Aryl Hydrocarbon Receptor Nuclear Translocator 2). Affiliated tissues include pituitary, brain and kidney.

UniProtKB/Swiss-Prot : 71 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:

53
NeurologicCentralNervousSystem:
seizures
spasticity
delayed myelination
thin pituitary stalk
thin corpus callosum
more
HeadAndNeckFace:
prominent forehead
retrognathia
well-grooved philtrum

SkeletalPelvis:
hip dislocation

GenitourinaryKidneys:
vesicoureteral reflux
hydronephrosis

LaboratoryAbnormalities:
hypernatremia

GrowthHeight:
poor linear growth

AbdomenGastrointestinal:
gastroesophageal reflux

GenitourinaryExternalGenitaliaMale:
cryptorchidism

EndocrineFeatures:
diabetes insipidus
growth hormone deficiency
hypernatremia
hypothyroidism, central
thyroid stimulating hormone deficiency
more
GenitourinaryBladder:
neurogenic bladder

HeadAndNeckEyes:
deep-set eyes
blindness, postretinal

HeadAndNeckHead:
microcephaly, postnatal (up to -6.4 sd)


Clinical features from OMIM:

615926

Human phenotypes related to Webb-Dattani Syndrome:

31 (show all 20)
# Description HPO Frequency HPO Source Accession
1 seizures 31 HP:0001250
2 spasticity 31 HP:0001257
3 global developmental delay 31 HP:0001263
4 microcephaly 31 HP:0000252
5 gastroesophageal reflux 31 HP:0002020
6 prominent forehead 31 HP:0011220
7 retrognathia 31 HP:0000278
8 cryptorchidism 31 HP:0000028
9 hip dislocation 31 HP:0002827
10 deeply set eye 31 HP:0000490
11 diabetes insipidus 31 HP:0000873
12 vesicoureteral reflux 31 HP:0000076
13 hydronephrosis 31 HP:0000126
14 hypoplasia of the corpus callosum 31 HP:0002079
15 pituitary hypothyroidism 31 HP:0008245
16 postnatal microcephaly 31 HP:0005484
17 neurogenic bladder 31 HP:0000011
18 growth hormone deficiency 31 HP:0000824
19 hypernatremia 31 HP:0003228
20 delayed myelination 31 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 28 ARNT2

Anatomical Context for Webb-Dattani Syndrome

MalaCards organs/tissues related to Webb-Dattani Syndrome:

38
Pituitary, Brain, Kidney, 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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