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 57
Epilepsy Telangiectasia 53 29 72
Mental Retardation, Epilepsy, Palpebral Conjunctival Telangiectasias and Iga Deficiency 53
Epilepsy-Telangiectasia Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
epilepsy-telangiectasia syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
epilepsy-telangiectasia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 226850
MESH via Orphanet 45 C535497
ICD10 via Orphanet 34 G40.8
UMLS via Orphanet 73 C1856929
Orphanet 59 ORPHA1951
MedGen 42 C1856929
UMLS 72 C1856929

Summaries for Epilepsy-Telangiectasia

MalaCards based summary : Epilepsy-Telangiectasia, also known as epilepsy telangiectasia, is related to immunoglobulin alpha deficiency and epilepsy. 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
2 epilepsy 10.4

Symptoms & Phenotypes for Epilepsy-Telangiectasia

Human phenotypes related to Epilepsy-Telangiectasia:

59 32 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
2 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
3 anteverted nares 59 32 hallmark (90%) Very frequent (99-80%) HP:0000463
4 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
5 long philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000343
6 conjunctival telangiectasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000524
7 decreased circulating iga level 59 32 hallmark (90%) Very frequent (99-80%) HP:0002720
8 short 5th finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0009237
9 abnormality of the dentition 59 32 frequent (33%) Frequent (79-30%) HP:0000164
10 abnormal facial shape 32 HP:0001999
11 abnormality of metabolism/homeostasis 32 HP:0001939
12 decreased antibody level in blood 59 Very frequent (99-80%)
13 synophrys 32 HP:0000664

Symptoms via clinical synopsis from OMIM:

57
Neuro:
seizures
mental retardation

Facies:
peculiar facies

H E E N T:
conjunctival telangiectasia
synophrys

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. 38 8
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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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