MCID: RNR001
MIFTS: 9

Renier Gabreels Jasper Syndrome

Categories: Rare diseases

Aliases & Classifications for Renier Gabreels Jasper Syndrome

MalaCards integrated aliases for Renier Gabreels Jasper Syndrome:

Name: Renier Gabreels Jasper Syndrome 20
Renier-Gabreels-Jasper Syndrome 6

Classifications:



Summaries for Renier Gabreels Jasper Syndrome

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93975 Definition An X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies). Epidemiology Prevalence is unknown but the syndrome was first described in 1982 in five males from two generations of one family (three brothers and two of their maternal uncles). Clinical description The syndrome is characterised by the association of microcephaly, spasticity, epilepsy, deafness and severe intellectual deficit. Female carriers show microcephaly and subnormal intelligence. Genetic counseling Transmission is X-linked.

MalaCards based summary : Renier Gabreels Jasper Syndrome, is also known as renier-gabreels-jasper syndrome. An important gene associated with Renier Gabreels Jasper Syndrome is ATRX (ATRX Chromatin Remodeler). Related phenotypes are intellectual disability, severe and spasticity

Related Diseases for Renier Gabreels Jasper Syndrome

Symptoms & Phenotypes for Renier Gabreels Jasper Syndrome

Human phenotypes related to Renier Gabreels Jasper Syndrome:

31 (showing 5, show less)
# Description HPO Frequency HPO Source Accession
1 intellectual disability, severe 31 hallmark (90%) HP:0010864
2 spasticity 31 frequent (33%) HP:0001257
3 microcephaly 31 frequent (33%) HP:0000252
4 sensorineural hearing impairment 31 frequent (33%) HP:0000407
5 seizure 31 frequent (33%) HP:0001250

Drugs & Therapeutics for Renier Gabreels Jasper Syndrome

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Genetic Tests for Renier Gabreels Jasper Syndrome

Anatomical Context for Renier Gabreels Jasper Syndrome

Publications for Renier Gabreels Jasper Syndrome

Variations for Renier Gabreels Jasper Syndrome

ClinVar genetic disease variations for Renier Gabreels Jasper Syndrome:

6 (showing 1, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ATRX NM_000489.5(ATRX):c.736C>T (p.Arg246Cys) SNV not provided 11735 rs122445105 GRCh37: X:76940012-76940012
GRCh38: X:77684520-77684520

Expression for Renier Gabreels Jasper Syndrome

Search GEO for disease gene expression data for Renier Gabreels Jasper Syndrome.

Pathways for Renier Gabreels Jasper Syndrome

GO Terms for Renier Gabreels Jasper Syndrome

Sources for Renier Gabreels Jasper 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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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