WARBM
MCID: WRB001
MIFTS: 33

Warburg Micro Syndrome (WARBM) malady

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

Aliases & Classifications for Warburg Micro Syndrome

Aliases & Descriptions for Warburg Micro Syndrome:

Name: Warburg Micro Syndrome 12 50 29 14
Micro Syndrome 12 71 50
Warburg Sjo Fledelius Syndrome 42 69
Warbm 12 50
Microcephaly, Microcornea, Congenital Cataract, Mental Retardation, Optic Atrophy and Hypogenitalism 50
Warburg-Sjo-Fledelius Syndrome 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0060237
MeSH 42 C536681
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 micro syndrome, is related to warburg micro syndrome 2 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/superpathways are Vesicle-mediated transport and Golgi-to-ER retrograde transport. Affiliated tissues include eye and cortex.

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:

id Genetic test Affiliating Genes
1 Warburg Micro Syndrome 29

Anatomical Context for Warburg Micro Syndrome

MalaCards organs/tissues related to Warburg Micro Syndrome:

39
Eye, Cortex

Publications for Warburg Micro Syndrome

Articles related to Warburg Micro Syndrome:

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

id 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:

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of GTPase activity GO:0043547 9.65 RAB3GAP1 RAB3GAP2 TBC1D20
2 ER to Golgi vesicle-mediated transport GO:0006888 9.49 RAB2A TBC1D20
3 regulation of GTPase activity GO:0043087 9.46 RAB3GAP1 RAB3GAP2
4 membrane organization GO:0061024 9.46 RAB18 RAB3GAP1 RAB3GAP2 TBC1D20
5 Golgi organization GO:0007030 9.43 RAB2A TBC1D20
6 camera-type eye development GO:0043010 9.4 RAB3GAP1 TBC1D20
7 positive regulation of autophagosome assembly GO:2000786 9.37 RAB3GAP1 RAB3GAP2
8 positive regulation of protein lipidation GO:1903061 9.32 RAB3GAP1 RAB3GAP2
9 establishment of protein localization to endoplasmic reticulum membrane GO:0097051 9.26 RAB3GAP1 RAB3GAP2
10 positive regulation of endoplasmic reticulum tubular network organization GO:1903373 8.96 RAB3GAP1 RAB3GAP2
11 lipid particle organization GO:0034389 8.8 RAB18 RAB3GAP1 TBC1D20

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

id 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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