MCID: ATS360
MIFTS: 8

Autosomal Recessive Intellectual Disability 58

Categories: Blood diseases, Ear diseases, Eye diseases, Fetal diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Autosomal Recessive Intellectual Disability 58

MalaCards integrated aliases for Autosomal Recessive Intellectual Disability 58:

Name: Autosomal Recessive Intellectual Disability 58 20
Elp2-Related Disorders 6
Elp2-Related Disorder 20

Classifications:



Summaries for Autosomal Recessive Intellectual Disability 58

GARD : 20 Autosomal recessive intellectual disability 58 is a very rare genetic condition characterized by intellectual disability without identified malformations in other organs (non-syndromic) of the body. To date, there are only eight cases reported in the medical literature. Symptoms severity varied in the reported cases, with mild or severe intellectual disability. In one family with two affected brothers, one was not able to walk at age 9 due to progressive spasticity (stiffness or tightness of the muscles with too strong or persistent reflexes) and difficulty talking, and the other never walked or talked. Both brothers had behavioral problems, such as aggressiveness, impulsivity, and self-injury. It is caused by mutations in the ELP2 gene. In the reported cases inheritance seems to be autosomal recessive. There is no report of specific treatment.

MalaCards based summary : Autosomal Recessive Intellectual Disability 58, is also known as elp2-related disorders. Affiliated tissues include eye.

Related Diseases for Autosomal Recessive Intellectual Disability 58

Symptoms & Phenotypes for Autosomal Recessive Intellectual Disability 58

Drugs & Therapeutics for Autosomal Recessive Intellectual Disability 58

Search Clinical Trials , NIH Clinical Center for Autosomal Recessive Intellectual Disability 58

Genetic Tests for Autosomal Recessive Intellectual Disability 58

Anatomical Context for Autosomal Recessive Intellectual Disability 58

MalaCards organs/tissues related to Autosomal Recessive Intellectual Disability 58:

40
Eye

Publications for Autosomal Recessive Intellectual Disability 58

Articles related to Autosomal Recessive Intellectual Disability 58:

# Title Authors PMID Year
1
ELP2 is a novel gene implicated in neurodevelopmental disabilities. 61
25847581 2015

Variations for Autosomal Recessive Intellectual Disability 58

ClinVar genetic disease variations for Autosomal Recessive Intellectual Disability 58:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ELP2 NM_018255.4(ELP2):c.617A>G (p.His206Arg) SNV not provided 225008 rs773432002 GRCh37: 18:33722272-33722272
GRCh38: 18:36142309-36142309
2 ELP2 NM_018255.4(ELP2):c.1518_1521del (p.Asn506fs) Deletion not provided 432384 rs867944805 GRCh37: 18:33738848-33738851
GRCh38: 18:36158885-36158888

Expression for Autosomal Recessive Intellectual Disability 58

Search GEO for disease gene expression data for Autosomal Recessive Intellectual Disability 58.

Pathways for Autosomal Recessive Intellectual Disability 58

GO Terms for Autosomal Recessive Intellectual Disability 58

Sources for Autosomal Recessive Intellectual Disability 58

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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