MCID: RRR001
MIFTS: 12

Rere-Related Disorders

Categories: Eye diseases, Neuronal diseases

Aliases & Classifications for Rere-Related Disorders

MalaCards integrated aliases for Rere-Related Disorders:

Name: Rere-Related Disorders 25
Neurodevelopmental Disorder with or Without Anomalies of the Brain, Eye, or Heart 25
Nedbeh 25

Classifications:



Summaries for Rere-Related Disorders

MalaCards based summary : Rere-Related Disorders, also known as neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, is related to neurodevelopmental disorder with or without anomalies of the brain, eye, or heart and chromosome 1p36 deletion syndrome. An important gene associated with Rere-Related Disorders is RERE (Arginine-Glutamic Acid Dipeptide Repeats). Affiliated tissues include eye, brain and heart.

GeneReviews: NBK538938

Related Diseases for Rere-Related Disorders

Graphical network of the top 20 diseases related to Rere-Related Disorders:



Diseases related to Rere-Related Disorders

Symptoms & Phenotypes for Rere-Related Disorders

Drugs & Therapeutics for Rere-Related Disorders

Search Clinical Trials , NIH Clinical Center for Rere-Related Disorders

Genetic Tests for Rere-Related Disorders

Anatomical Context for Rere-Related Disorders

MalaCards organs/tissues related to Rere-Related Disorders:

40
Eye, Brain, Heart

Publications for Rere-Related Disorders

Articles related to Rere-Related Disorders:

# Title Authors PMID Year
1
Genotype-phenotype correlations in individuals with pathogenic RERE variants. 61 25
29330883 2018
2
De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions. 25
27087320 2016
3
Timing, rates and spectra of human germline mutation. 25
26656846 2016
4
RERE deficiency contributes to the development of orofacial clefts in humans and mice. 61
33772547 2021
5
RERE-Related Disorders 61
30896913 2019

Variations for Rere-Related Disorders

Expression for Rere-Related Disorders

Search GEO for disease gene expression data for Rere-Related Disorders.

Pathways for Rere-Related Disorders

GO Terms for Rere-Related Disorders

Sources for Rere-Related Disorders

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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