MCID: WRB001
MIFTS: 33

Warburg Micro Syndrome malady

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

Aliases & Classifications for Warburg Micro Syndrome

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Aliases & Descriptions for Warburg Micro Syndrome:

Name: Warburg Micro Syndrome 11 46 13 25
Micro Syndrome 11 69 46
Warburg Sjo Fledelius Syndrome 37 66
 
Warbm 11 46
Microcephaly, Microcornea, Congenital Cataract, Mental Retardation, Optic Atrophy and Hypogenitalism 46
Warburg-Sjo-Fledelius Syndrome 11

Classifications:



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Disease Ontology11 DOID:0060237
MeSH37 C536681

Summaries for Warburg Micro Syndrome

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Disease Ontology:11 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 micro syndrome, is related to martsolf syndrome and warburg micro syndrome 1. An important gene associated with Warburg Micro Syndrome is RAB18 (RAB18, Member RAS Oncogene Family), and among its related pathways are COPI-independent Golgi-to-ER retrograde traffic and Golgi-to-ER retrograde transport. Affiliated tissues include cortex and eye.

Related Diseases for Warburg Micro Syndrome

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Graphical network of diseases related to Warburg Micro Syndrome:



Diseases related to warburg micro syndrome

Symptoms for Warburg Micro Syndrome

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Drugs & Therapeutics for Warburg Micro Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Warburg Micro Syndrome


Cochrane evidence based reviews: warburg sjo fledelius syndrome

Genetic Tests for Warburg Micro Syndrome

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Genetic tests related to Warburg Micro Syndrome:

id Genetic test Affiliating Genes
1 Warburg Micro Syndrome25

Anatomical Context for Warburg Micro Syndrome

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MalaCards organs/tissues related to Warburg Micro Syndrome:

34
Cortex, Eye

Animal Models for Warburg Micro Syndrome or affiliated genes

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Publications for Warburg Micro Syndrome

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Articles related to Warburg Micro Syndrome:

(show all 20)
idTitleAuthorsYear
1
RAB18, a protein associated with Warburg Micro syndrome, controls neuronal migration in the developing cerebral cortex. (26879639)
2016
2
Warburg micro syndrome in siblings from India. (27195044)
2016
3
Deletion 1q43-44 in a patient with clinical diagnosis of Warburg-Micro syndrome. (25899426)
2015
4
Novel RAB3GAP1 compound heterozygous mutations in Japanese siblings with Warburg Micro syndrome. (26421802)
2015
5
Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation. (26063829)
2015
6
A RAB3GAP1 SINE Insertion in Alaskan Huskies with Polyneuropathy, Ocular Abnormalities, and Neuronal Vacuolation (POANV) Resembling Human Warburg Micro Syndrome 1 (WARBM1). (26596647)
2015
7
ENU mutagenesis identifies mice modeling Warburg Micro Syndrome with sensory axon degeneration caused by a deletion in Rab18. (25779931)
2015
8
Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndrome. (27081543)
2015
9
Large homozygous RAB3GAP1 gene microdeletion causes Warburg Micro Syndrome 1. (25332050)
2014
10
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
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-Function Mutations in TBC1D20 Cause Cataracts and Male Infertility in blind sterile Mice and Warburg Micro Syndrome in Humans. (24239381)
2013
13
Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome. (23420520)
2013
14
Warburg Micro syndrome. (22768674)
2012
15
Warburg micro syndrome in two children from a highly inbred Turkish family. (22876574)
2012
16
Loss-of-function mutations in RAB18 cause Warburg micro syndrome. (21473985)
2011
17
A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome. (20967465)
2011
18
New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish. (20512159)
2010
19
Warburg Micro syndrome in a Turkish boy. (17351351)
2007
20
Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome. (15696165)
2005

Variations for Warburg Micro Syndrome

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Copy number variations for Warburg Micro Syndrome from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
11369092134800000136600000Copy numberRAB3GAPWarburg Micro syndrome

Expression for genes affiliated with Warburg Micro Syndrome

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

Pathways for genes affiliated with Warburg Micro Syndrome

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Pathways related to Warburg Micro Syndrome according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.0RAB18, RAB3GAP1, RAB3GAP2
2
Show member pathways
9.0RAB18, RAB3GAP1, RAB3GAP2
3
Show member pathways
8.5RAB18, RAB3GAP1, RAB3GAP2, TBC1D20

GO Terms for genes affiliated with Warburg Micro Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum tubular networkGO:007178210.2RAB18, RAB3GAP1
2endoplasmic reticulum membraneGO:00057897.9ATP10A, RAB18, RAB3GAP1, RAB3GAP2, TBC1D20

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1establishment of protein localization to endoplasmic reticulum membraneGO:009705110.0RAB3GAP1, RAB3GAP2
2positive regulation of endoplasmic reticulum tubular network organizationGO:190337310.0RAB3GAP1, RAB3GAP2
3positive regulation of autophagosome assemblyGO:200078610.0RAB3GAP1, RAB3GAP2
4positive regulation of protein lipidationGO:190306110.0RAB3GAP1, RAB3GAP2
5camera-type eye developmentGO:00430109.9RAB3GAP1, TBC1D20
6regulation of GTPase activityGO:00430879.7RAB3GAP1, RAB3GAP2
7lipid particle organizationGO:00343899.5RAB18, RAB3GAP1, TBC1D20
8positive regulation of GTPase activityGO:00435478.9RAB3GAP1, RAB3GAP2, TBC1D20

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

idNameGO IDScoreTop Affiliating Genes
1Rab guanyl-nucleotide exchange factor activityGO:00171129.6RAB3GAP1, RAB3GAP2
2GTPase activator activityGO:00050968.9RAB3GAP1, RAB3GAP2, TBC1D20
3Rab GTPase bindingGO:00171378.8RAB3GAP1, RAB3GAP2, TBC1D20

Sources for Warburg Micro Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet