WEDAS
MCID: WBB001
MIFTS: 23

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 57 72 36 29 6 39 70
Hypothalamo-Pituitary-Frontotemporal Hypoplasia with Visual and Renal Anomalies 57 72
Wedas 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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® : 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) (Updated 20-May-2021)

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, temporal lobe and eye, and related phenotypes are spasticity and global developmental delay

KEGG : 36 Webb-Dattani syndrome is an autosomal recessive disorder characterized by secondary (post-natal) microcephaly with fronto-temporal lobe hypoplasia, multiple pituitary hormone deficiency, seizures, severe visual impairment, and abnormalities of the kidneys and urinary tract. A homozygous frameshift mutation in the basic HLH transcription factor ARNT2 has been revealed in affected individuals.

UniProtKB/Swiss-Prot : 72 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:

31 (show all 21)
# Description HPO Frequency HPO Source Accession
1 spasticity 31 HP:0001257
2 global developmental delay 31 HP:0001263
3 blindness 31 HP:0000618
4 gastroesophageal reflux 31 HP:0002020
5 prominent forehead 31 HP:0011220
6 cryptorchidism 31 HP:0000028
7 retrognathia 31 HP:0000278
8 diabetes insipidus 31 HP:0000873
9 vesicoureteral reflux 31 HP:0000076
10 hydronephrosis 31 HP:0000126
11 deeply set eye 31 HP:0000490
12 hip dislocation 31 HP:0002827
13 severe global developmental delay 31 HP:0011344
14 hypoplasia of the corpus callosum 31 HP:0002079
15 postnatal microcephaly 31 HP:0005484
16 pituitary hypothyroidism 31 HP:0008245
17 neurogenic bladder 31 HP:0000011
18 delayed myelination 31 HP:0012448
19 hypernatremia 31 HP:0003228
20 seizure 31 HP:0001250
21 decreased response to growth hormone stimuation test 31 HP:0000824

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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

Endocrine Features:
diabetes insipidus
growth hormone deficiency
hypernatremia
hypothyroidism, central
thyroid stimulating hormone deficiency
more
Skeletal Pelvis:
hip dislocation

Laboratory Abnormalities:
hypernatremia

Growth Height:
poor linear growth

Abdomen Gastrointestinal:
gastroesophageal reflux

Genitourinary External Genitalia Male:
cryptorchidism

Genitourinary Kidneys:
vesicoureteral reflux
hydronephrosis

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 (Updated 20-May-2021)

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 29 ARNT2

Anatomical Context for Webb-Dattani Syndrome

MalaCards organs/tissues related to Webb-Dattani Syndrome:

40
Pituitary, Temporal Lobe, Eye, Thyroid

Publications for Webb-Dattani Syndrome

Articles related to Webb-Dattani Syndrome:

# Title Authors PMID Year
1
ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies. 57 6
24022475 2013

Variations for Webb-Dattani Syndrome

ClinVar genetic disease variations for Webb-Dattani Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ARNT2 NM_014862.4(ARNT2):c.1372_1373dup (p.Tyr459fs) Duplication Pathogenic 805850 rs1596021185 GRCh37: 15:80866543-80866544
GRCh38: 15:80574202-80574203
2 ARNT2 NM_014862.4(ARNT2):c.791+5G>A SNV Likely pathogenic 801400 rs1595993043 GRCh37: 15:80806322-80806322
GRCh38: 15:80513981-80513981
3 ARNT2 NM_014862.4(ARNT2):c.1000C>T (p.Pro334Ser) SNV Uncertain significance 801401 rs145079722 GRCh37: 15:80845026-80845026
GRCh38: 15:80552685-80552685
4 ARNT2 NM_014862.4(ARNT2):c.726-3T>G SNV Uncertain significance 981216 GRCh37: 15:80806249-80806249
GRCh38: 15:80513908-80513908
5 ARNT2 NM_014862.4(ARNT2):c.1222C>G (p.Arg408Gly) SNV Uncertain significance 1033304 GRCh37: 15:80855486-80855486
GRCh38: 15:80563145-80563145

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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