MCID: EPL162
MIFTS: 17

Epilepsy-Telangiectasia

Categories: Fetal diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Epilepsy-Telangiectasia

MalaCards integrated aliases for Epilepsy-Telangiectasia:

Name: Epilepsy-Telangiectasia 56
Epilepsy Telangiectasia 52 29 71
Mental Retardation, Epilepsy, Palpebral Conjunctival Telangiectasias and Iga Deficiency 52
Epilepsy-Telangiectasia Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
epilepsy-telangiectasia syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
epilepsy-telangiectasia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 226850
MESH via Orphanet 44 C535497
ICD10 via Orphanet 33 G40.8
UMLS via Orphanet 72 C1856929
Orphanet 58 ORPHA1951
MedGen 41 C1856929
UMLS 71 C1856929

Summaries for Epilepsy-Telangiectasia

MalaCards based summary : Epilepsy-Telangiectasia, also known as epilepsy telangiectasia, is related to immunoglobulin alpha deficiency. Related phenotypes are intellectual disability and seizures

More information from OMIM: 226850

Related Diseases for Epilepsy-Telangiectasia

Diseases related to Epilepsy-Telangiectasia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 immunoglobulin alpha deficiency 10.4

Symptoms & Phenotypes for Epilepsy-Telangiectasia

Human phenotypes related to Epilepsy-Telangiectasia:

58 31 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 seizures 58 31 hallmark (90%) Very frequent (99-80%) HP:0001250
3 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
4 anteverted nares 58 31 hallmark (90%) Very frequent (99-80%) HP:0000463
5 long philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000343
6 short 5th finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0009237
7 conjunctival telangiectasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000524
8 decreased circulating iga level 58 31 hallmark (90%) Very frequent (99-80%) HP:0002720
9 abnormality of the dentition 58 31 frequent (33%) Frequent (79-30%) HP:0000164
10 abnormal facial shape 31 HP:0001999
11 abnormality of metabolism/homeostasis 31 HP:0001939
12 decreased antibody level in blood 58 Very frequent (99-80%)
13 synophrys 31 HP:0000664

Symptoms via clinical synopsis from OMIM:

56
Neuro:
seizures
mental retardation

Facies:
peculiar facies

H E E N T:
synophrys
conjunctival telangiectasia

Lab:
low serum iga

Clinical features from OMIM:

226850

Drugs & Therapeutics for Epilepsy-Telangiectasia

Search Clinical Trials , NIH Clinical Center for Epilepsy-Telangiectasia

Genetic Tests for Epilepsy-Telangiectasia

Genetic tests related to Epilepsy-Telangiectasia:

# Genetic test Affiliating Genes
1 Epilepsy Telangiectasia 29

Anatomical Context for Epilepsy-Telangiectasia

Publications for Epilepsy-Telangiectasia

Articles related to Epilepsy-Telangiectasia:

# Title Authors PMID Year
1
A new syndrome characterized by mental retardation, epilepsy, palpebral conjunctival telangiectasias and IgA deficiency. 61 56
627106 1978

Variations for Epilepsy-Telangiectasia

Expression for Epilepsy-Telangiectasia

Search GEO for disease gene expression data for Epilepsy-Telangiectasia.

Pathways for Epilepsy-Telangiectasia

GO Terms for Epilepsy-Telangiectasia

Sources for Epilepsy-Telangiectasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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