MCID: RNR001
MIFTS: 3

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

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: 93975DefinitionAn 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).EpidemiologyPrevalence 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 descriptionThe syndrome is characterised by the association of microcephaly, spasticity, epilepsy, deafness and severe intellectual deficit. Female carriers show microcephaly and subnormal intelligence.Genetic counselingTransmission is X-linked.Visit the Orphanet disease page for more resources.

MalaCards based summary : Renier Gabreels Jasper Syndrome is related to mental retardation-hypotonic facies syndrome, x-linked, 1. An important gene associated with Renier Gabreels Jasper Syndrome is ATRX (ATRX Chromatin Remodeler).

Related Diseases for Renier Gabreels Jasper Syndrome

Diseases related to Renier Gabreels Jasper Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 mental retardation-hypotonic facies syndrome, x-linked, 1 11.6

Symptoms & Phenotypes for Renier Gabreels Jasper Syndrome

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

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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