MCID: WRB001
MIFTS: 32

Warburg Micro Syndrome

Categories: Genetic diseases, Eye diseases, Neuronal diseases, Rare diseases, Mental diseases

Aliases & Classifications for Warburg Micro Syndrome

MalaCards integrated aliases for Warburg Micro Syndrome:

Name: Warburg Micro Syndrome 12 36 28 14
Warburg Sjo Fledelius Syndrome 41 69
Warburg-Sjo-Fledelius Syndrome 12
Micro Syndrome 12
Warbm 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0060237
MeSH 41 C536681
KEGG 36 H00792
UMLS 69 C1838625

Summaries for Warburg Micro Syndrome

Disease Ontology : 12 An autosomal recessive disease characterized by severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis or hypoplasia of the corpus callosum and hypogenitalism.

MalaCards based summary : Warburg Micro Syndrome, also known as warburg sjo fledelius syndrome, is related to warburg micro syndrome 1 and warburg micro syndrome 2. An important gene associated with Warburg Micro Syndrome is RAB18 (RAB18, Member RAS Oncogene Family), and among its related pathways/superpathways are Vesicle-mediated transport and Golgi-to-ER retrograde transport. Affiliated tissues include cortex and eye.

Related Diseases for Warburg Micro Syndrome

Graphical network of the top 20 diseases related to Warburg Micro Syndrome:



Diseases related to Warburg Micro Syndrome

Symptoms & Phenotypes for Warburg Micro Syndrome

Drugs & Therapeutics for Warburg Micro Syndrome

Search Clinical Trials , NIH Clinical Center for Warburg Micro Syndrome

Cochrane evidence based reviews: warburg sjo fledelius syndrome

Genetic Tests for Warburg Micro Syndrome

Genetic tests related to Warburg Micro Syndrome:

# Genetic test Affiliating Genes
1 Warburg Micro Syndrome 28

Anatomical Context for Warburg Micro Syndrome

MalaCards organs/tissues related to Warburg Micro Syndrome:

38
Cortex, Eye

Publications for Warburg Micro Syndrome

Articles related to Warburg Micro Syndrome:

(show all 22)
# Title Authors Year
1
Case report of four siblings in southeast Turkey with a novel RAB3GAP2 splice site mutation: Warburg micro syndrome or Martsolf syndrome? ( 29419336 )
2018
2
Warburg micro syndrome type 1 associated with peripheral neuropathy and cardiomyopathy. ( 27764520 )
2016
3
RAB18, a protein associated with Warburg Micro syndrome, controls neuronal migration in the developing cerebral cortex. ( 26879639 )
2016
4
Warburg micro syndrome in siblings from India. ( 27195044 )
2016
5
ENU mutagenesis identifies mice modeling Warburg Micro Syndrome with sensory axon degeneration caused by a deletion in Rab18. ( 25779931 )
2015
6
Novel RAB3GAP1 compound heterozygous mutations in Japanese siblings with Warburg Micro syndrome. ( 26421802 )
2015
7
A RAB3GAP1 SINE Insertion in Alaskan Huskies with Polyneuropathy, Ocular Abnormalities, and Neuronal Vacuolation (POANV) Resembling Human Warburg Micro Syndrome 1 (WARBM1). ( 26596647 )
2015
8
Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndrome. ( 27081543 )
2015
9
Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation. ( 26063829 )
2015
10
Deletion 1q43-44 in a patient with clinical diagnosis of Warburg-Micro syndrome. ( 25899426 )
2015
11
A novel mouse model of Warburg Micro syndrome reveals roles for RAB18 in eye development and organisation of the neuronal cytoskeleton. ( 24764192 )
2014
12
Loss of ALDH18A1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndrome. ( 25077174 )
2014
13
Large homozygous RAB3GAP1 gene microdeletion causes Warburg Micro Syndrome 1. ( 25332050 )
2014
14
Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome. ( 23420520 )
2013
15
Loss-of-Function Mutations in TBC1D20 Cause Cataracts and Male Infertility in blind sterile Mice and Warburg Micro Syndrome in Humans. ( 24239381 )
2013
16
Warburg Micro syndrome. ( 22768674 )
2012
17
Warburg micro syndrome in two children from a highly inbred Turkish family. ( 22876574 )
2012
18
A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome. ( 20967465 )
2011
19
Loss-of-function mutations in RAB18 cause Warburg micro syndrome. ( 21473985 )
2011
20
New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish. ( 20512159 )
2010
21
Warburg Micro syndrome in a Turkish boy. ( 17351351 )
2007
22
Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome. ( 15696165 )
2005

Variations for Warburg Micro Syndrome

Copy number variations for Warburg Micro Syndrome from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 136909 2 134800000 136600000 Copy number RAB3GAP Warburg Micro syndrome

Expression for Warburg Micro Syndrome

Search GEO for disease gene expression data for Warburg Micro Syndrome.

Pathways for Warburg Micro Syndrome

GO Terms for Warburg Micro Syndrome

Cellular components related to Warburg Micro Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum-Golgi intermediate compartment membrane GO:0033116 9.16 RAB2A TBC1D20
2 endoplasmic reticulum membrane GO:0005789 9.02 RAB18 RAB2A RAB3GAP1 RAB3GAP2 TBC1D20
3 endoplasmic reticulum tubular network GO:0071782 8.96 RAB18 RAB3GAP1

Biological processes related to Warburg Micro Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of GTPase activity GO:0043547 9.54 RAB3GAP1 RAB3GAP2 TBC1D20
2 ER to Golgi vesicle-mediated transport GO:0006888 9.48 RAB2A TBC1D20
3 Golgi organization GO:0007030 9.46 RAB2A TBC1D20
4 regulation of GTPase activity GO:0043087 9.43 RAB3GAP1 RAB3GAP2
5 camera-type eye development GO:0043010 9.4 RAB3GAP1 TBC1D20
6 positive regulation of autophagosome assembly GO:2000786 9.32 RAB3GAP1 RAB3GAP2
7 positive regulation of endoplasmic reticulum tubular network organization GO:1903373 9.26 RAB3GAP1 RAB3GAP2
8 positive regulation of protein lipidation GO:1903061 9.16 RAB3GAP1 RAB3GAP2
9 establishment of protein localization to endoplasmic reticulum membrane GO:0097051 8.96 RAB3GAP1 RAB3GAP2
10 lipid particle organization GO:0034389 8.8 RAB18 RAB3GAP1 TBC1D20

Molecular functions related to Warburg Micro Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 GDP binding GO:0019003 9.26 RAB18 RAB2A
2 Rab guanyl-nucleotide exchange factor activity GO:0017112 9.16 RAB3GAP1 RAB3GAP2
3 GTPase activator activity GO:0005096 9.13 RAB3GAP1 RAB3GAP2 TBC1D20
4 Rab GTPase binding GO:0017137 8.8 RAB3GAP1 RAB3GAP2 TBC1D20

Sources for Warburg Micro Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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