WARBM
MCID: WRB001
MIFTS: 33

Warburg Micro Syndrome (WARBM)

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

Aliases & Classifications for Warburg Micro Syndrome

MalaCards integrated aliases for Warburg Micro Syndrome:

Name: Warburg Micro Syndrome 12 38 30 6 15
Warburg Sjo Fledelius Syndrome 45 74
Warburg-Sjo-Fledelius Syndrome 12
Micro Syndrome 12
Warbm 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0060237
KEGG 38 H00792
MeSH 45 C536681
UMLS 74 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 RAB3GAP1 (RAB3 GTPase Activating Protein Catalytic Subunit 1), 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:

# Genetic test Affiliating Genes
1 Warburg Micro Syndrome 30

Anatomical Context for Warburg Micro Syndrome

MalaCards organs/tissues related to Warburg Micro Syndrome:

42
Eye, Cortex

Publications for Warburg Micro Syndrome

Articles related to Warburg Micro Syndrome:

(show all 24)
# Title Authors Year
1
Rab18 Collaborates with Rab7 to Modulate Lysosomal and Autophagy Activities in the Nervous System: an Overlapping Mechanism for Warburg Micro Syndrome and Charcot-Marie-Tooth Neuropathy Type 2B. ( 30721447 )
2019
2
Case report of four siblings in southeast Turkey with a novel RAB3GAP2 splice site mutation: Warburg micro syndrome or Martsolf syndrome? ( 29419336 )
2018
3
Novel <i>RAB3GAP1</i> Mutations Causing Warburg Micro Syndrome in Two Italian Sisters. ( 29675078 )
2017
4
Warburg micro syndrome in siblings from India. ( 27195044 )
2016
5
Warburg micro syndrome type 1 associated with peripheral neuropathy and cardiomyopathy. ( 27764520 )
2016
6
RAB18, a protein associated with Warburg Micro syndrome, controls neuronal migration in the developing cerebral cortex. ( 26879639 )
2016
7
Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation. ( 26063829 )
2015
8
Novel RAB3GAP1 compound heterozygous mutations in Japanese siblings with Warburg Micro syndrome. ( 26421802 )
2015
9
Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndrome. ( 27081543 )
2015
10
Deletion 1q43-44 in a patient with clinical diagnosis of Warburg-Micro syndrome. ( 25899426 )
2015
11
A RAB3GAP1 SINE Insertion in Alaskan Huskies with Polyneuropathy, Ocular Abnormalities, and Neuronal Vacuolation (POANV) Resembling Human Warburg Micro Syndrome 1 (WARBM1). ( 26596647 )
2015
12
ENU mutagenesis identifies mice modeling Warburg Micro Syndrome with sensory axon degeneration caused by a deletion in Rab18. ( 25779931 )
2015
13
A novel mouse model of Warburg Micro syndrome reveals roles for RAB18 in eye development and organisation of the neuronal cytoskeleton. ( 24764192 )
2014
14
Large homozygous RAB3GAP1 gene microdeletion causes Warburg Micro Syndrome 1. ( 25332050 )
2014
15
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
16
Loss-of-Function Mutations in TBC1D20 Cause Cataracts and Male Infertility in blind sterile Mice and Warburg Micro Syndrome in Humans. ( 24239381 )
2013
17
Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome. ( 23420520 )
2013
18
Warburg micro syndrome in two children from a highly inbred Turkish family. ( 22876574 )
2012
19
Warburg Micro syndrome. ( 22768674 )
2012
20
A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome. ( 20967465 )
2011
21
Loss-of-function mutations in RAB18 cause Warburg micro syndrome. ( 21473985 )
2011
22
New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish. ( 20512159 )
2010
23
Warburg Micro syndrome in a Turkish boy. ( 17351351 )
2007
24
Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome. ( 15696165 )
2005

Variations for Warburg Micro Syndrome

ClinVar genetic disease variations for Warburg Micro Syndrome:

6 (show top 50) (show all 416)
# Gene Variation Type Significance SNP ID Assembly Location
1 RAB3GAP2 NM_012414.3(RAB3GAP2): c.2008C> G (p.Leu670Val) single nucleotide variant Conflicting interpretations of pathogenicity rs201613456 GRCh37 Chromosome 1, 220356264: 220356264
2 RAB3GAP2 NM_012414.3(RAB3GAP2): c.2008C> G (p.Leu670Val) single nucleotide variant Conflicting interpretations of pathogenicity rs201613456 GRCh38 Chromosome 1, 220182922: 220182922
3 RAB3GAP1 NM_012233.2(RAB3GAP1): c.1006C> T (p.Arg336Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs150478342 GRCh37 Chromosome 2, 135887597: 135887597
4 RAB3GAP1 NM_012233.2(RAB3GAP1): c.1006C> T (p.Arg336Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs150478342 GRCh38 Chromosome 2, 135130027: 135130027
5 RAB18 NM_021252.4(RAB18): c.592G> A (p.Ala198Thr) single nucleotide variant Benign/Likely benign rs11015859 GRCh37 Chromosome 10, 27826951: 27826951
6 RAB18 NM_021252.4(RAB18): c.592G> A (p.Ala198Thr) single nucleotide variant Benign/Likely benign rs11015859 GRCh38 Chromosome 10, 27538022: 27538022
7 RAB3GAP1 NM_012233.2(RAB3GAP1): c.-53C> G single nucleotide variant Likely benign rs78560065 GRCh37 Chromosome 2, 135809825: 135809825
8 RAB3GAP1 NM_012233.2(RAB3GAP1): c.-53C> G single nucleotide variant Likely benign rs78560065 GRCh38 Chromosome 2, 135052255: 135052255
9 RAB3GAP1 NM_012233.2(RAB3GAP1): c.1041A> G (p.Arg347=) single nucleotide variant Likely benign rs77972211 GRCh37 Chromosome 2, 135887632: 135887632
10 RAB3GAP1 NM_012233.2(RAB3GAP1): c.1041A> G (p.Arg347=) single nucleotide variant Likely benign rs77972211 GRCh38 Chromosome 2, 135130062: 135130062
11 RAB3GAP1 NM_012233.2(RAB3GAP1): c.1325A> G (p.Tyr442Cys) single nucleotide variant Likely benign rs114901298 GRCh37 Chromosome 2, 135890553: 135890553
12 RAB3GAP1 NM_012233.2(RAB3GAP1): c.1325A> G (p.Tyr442Cys) single nucleotide variant Likely benign rs114901298 GRCh38 Chromosome 2, 135132983: 135132983
13 RAB3GAP1 NM_012233.2(RAB3GAP1): c.1793A> G (p.Asn598Ser) single nucleotide variant Benign rs10445686 GRCh37 Chromosome 2, 135893372: 135893372
14 RAB3GAP1 NM_012233.2(RAB3GAP1): c.1793A> G (p.Asn598Ser) single nucleotide variant Benign rs10445686 GRCh38 Chromosome 2, 135135802: 135135802
15 RAB3GAP1 NM_012233.2(RAB3GAP1): c.1992G> A (p.Ser664=) single nucleotide variant Benign/Likely benign rs7595725 GRCh37 Chromosome 2, 135908007: 135908007
16 RAB3GAP1 NM_012233.2(RAB3GAP1): c.1992G> A (p.Ser664=) single nucleotide variant Benign/Likely benign rs7595725 GRCh38 Chromosome 2, 135150437: 135150437
17 RAB3GAP1 NM_012233.2(RAB3GAP1): c.2007C> A (p.His669Gln) single nucleotide variant Uncertain significance rs587780426 GRCh37 Chromosome 2, 135908022: 135908022
18 RAB3GAP1 NM_012233.2(RAB3GAP1): c.2007C> A (p.His669Gln) single nucleotide variant Uncertain significance rs587780426 GRCh38 Chromosome 2, 135150452: 135150452
19 RAB3GAP1 NM_012233.2(RAB3GAP1): c.2265T> C (p.Phe755=) single nucleotide variant Benign rs17261772 GRCh37 Chromosome 2, 135911422: 135911422
20 RAB3GAP1 NM_012233.2(RAB3GAP1): c.2265T> C (p.Phe755=) single nucleotide variant Benign rs17261772 GRCh38 Chromosome 2, 135153852: 135153852
21 RAB3GAP1 NM_012233.2(RAB3GAP1): c.2463C> T (p.Phe821=) single nucleotide variant Conflicting interpretations of pathogenicity rs61748693 GRCh37 Chromosome 2, 135920394: 135920394
22 RAB3GAP1 NM_012233.2(RAB3GAP1): c.2463C> T (p.Phe821=) single nucleotide variant Conflicting interpretations of pathogenicity rs61748693 GRCh38 Chromosome 2, 135162824: 135162824
23 RAB3GAP2 NM_012414.3(RAB3GAP2): c.2088A> G (p.Thr696=) single nucleotide variant Benign/Likely benign rs2577126 GRCh37 Chromosome 1, 220356184: 220356184
24 RAB3GAP2 NM_012414.3(RAB3GAP2): c.2088A> G (p.Thr696=) single nucleotide variant Benign/Likely benign rs2577126 GRCh38 Chromosome 1, 220182842: 220182842
25 RAB3GAP2 NM_012414.3(RAB3GAP2): c.2587A> G (p.Thr863Ala) single nucleotide variant Benign/Likely benign rs12045447 GRCh37 Chromosome 1, 220344453: 220344453
26 RAB3GAP2 NM_012414.3(RAB3GAP2): c.2587A> G (p.Thr863Ala) single nucleotide variant Benign/Likely benign rs12045447 GRCh38 Chromosome 1, 220171111: 220171111
27 RAB3GAP2 NM_012414.3(RAB3GAP2): c.3275G> C (p.Ser1092Thr) single nucleotide variant Benign/Likely benign rs2289189 GRCh37 Chromosome 1, 220331205: 220331205
28 RAB3GAP2 NM_012414.3(RAB3GAP2): c.3275G> C (p.Ser1092Thr) single nucleotide variant Benign/Likely benign rs2289189 GRCh38 Chromosome 1, 220157863: 220157863
29 RAB3GAP2 NM_012414.3(RAB3GAP2): c.3495G> A (p.Leu1165=) single nucleotide variant Benign/Likely benign rs11547779 GRCh37 Chromosome 1, 220330672: 220330672
30 RAB3GAP2 NM_012414.3(RAB3GAP2): c.3495G> A (p.Leu1165=) single nucleotide variant Benign/Likely benign rs11547779 GRCh38 Chromosome 1, 220157330: 220157330
31 RAB3GAP2 NM_012414.3(RAB3GAP2): c.2290C> T (p.Leu764Phe) single nucleotide variant Uncertain significance rs139337049 GRCh37 Chromosome 1, 220355619: 220355619
32 RAB3GAP2 NM_012414.3(RAB3GAP2): c.2290C> T (p.Leu764Phe) single nucleotide variant Uncertain significance rs139337049 GRCh38 Chromosome 1, 220182277: 220182277
33 RAB3GAP2 NM_012414.3(RAB3GAP2): c.3991C> A (p.Leu1331Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs149842844 GRCh37 Chromosome 1, 220324983: 220324983
34 RAB3GAP2 NM_012414.3(RAB3GAP2): c.3991C> A (p.Leu1331Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs149842844 GRCh38 Chromosome 1, 220151641: 220151641
35 RAB3GAP2 NM_012414.3(RAB3GAP2): c.*2923_*2925delCTT deletion Benign rs3217443 GRCh38 Chromosome 1, 220148326: 220148328
36 RAB3GAP2 NM_012414.3(RAB3GAP2): c.*2923_*2925delCTT deletion Benign rs3217443 GRCh37 Chromosome 1, 220321668: 220321670
37 RAB3GAP2 NM_012414.3(RAB3GAP2): c.*2518A> G single nucleotide variant Uncertain significance rs528100310 GRCh38 Chromosome 1, 220148733: 220148733
38 RAB3GAP2 NM_012414.3(RAB3GAP2): c.*2518A> G single nucleotide variant Uncertain significance rs528100310 GRCh37 Chromosome 1, 220322075: 220322075
39 RAB3GAP2 NM_012414.3(RAB3GAP2): c.*2450G> T single nucleotide variant Uncertain significance rs568052992 GRCh38 Chromosome 1, 220148801: 220148801
40 RAB3GAP2 NM_012414.3(RAB3GAP2): c.*2450G> T single nucleotide variant Uncertain significance rs568052992 GRCh37 Chromosome 1, 220322143: 220322143
41 RAB3GAP2 NM_012414.3(RAB3GAP2): c.*2347T> C single nucleotide variant Uncertain significance rs886046010 GRCh38 Chromosome 1, 220148904: 220148904
42 RAB3GAP2 NM_012414.3(RAB3GAP2): c.*2347T> C single nucleotide variant Uncertain significance rs886046010 GRCh37 Chromosome 1, 220322246: 220322246
43 RAB3GAP2 NM_012414.3(RAB3GAP2): c.*2338_*2339delAT deletion Uncertain significance rs886046011 GRCh38 Chromosome 1, 220148912: 220148913
44 RAB3GAP2 NM_012414.3(RAB3GAP2): c.*2338_*2339delAT deletion Uncertain significance rs886046011 GRCh37 Chromosome 1, 220322254: 220322255
45 RAB3GAP2 NM_012414.3(RAB3GAP2): c.*2098_*2101delAAAT deletion Uncertain significance rs886046013 GRCh38 Chromosome 1, 220149150: 220149153
46 RAB3GAP2 NM_012414.3(RAB3GAP2): c.*2098_*2101delAAAT deletion Uncertain significance rs886046013 GRCh37 Chromosome 1, 220322492: 220322495
47 RAB3GAP2 NM_012414.3(RAB3GAP2): c.*1143A> G single nucleotide variant Uncertain significance rs865932881 GRCh38 Chromosome 1, 220150108: 220150108
48 RAB3GAP2 NM_012414.3(RAB3GAP2): c.*1143A> G single nucleotide variant Uncertain significance rs865932881 GRCh37 Chromosome 1, 220323450: 220323450
49 RAB3GAP2 NM_012414.3(RAB3GAP2): c.*798_*799dupAA duplication Uncertain significance rs35147354 GRCh38 Chromosome 1, 220150452: 220150453
50 RAB3GAP2 NM_012414.3(RAB3GAP2): c.*798_*799dupAA duplication Uncertain significance rs35147354 GRCh37 Chromosome 1, 220323794: 220323795

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:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 intracellular protein transport GO:0006886 9.58 RAB18 RAB2A RAB3GAP2
2 positive regulation of GTPase activity GO:0043547 9.54 RAB3GAP1 RAB3GAP2 TBC1D20
3 Golgi organization GO:0007030 9.49 RAB2A TBC1D20
4 regulation of GTPase activity GO:0043087 9.48 RAB3GAP1 RAB3GAP2
5 Rab protein signal transduction GO:0032482 9.46 RAB18 RAB2A
6 camera-type eye development GO:0043010 9.43 RAB3GAP1 TBC1D20
7 positive regulation of autophagosome assembly GO:2000786 9.32 RAB3GAP1 RAB3GAP2
8 positive regulation of endoplasmic reticulum tubular network organization GO:1903373 9.26 RAB3GAP1 RAB3GAP2
9 positive regulation of protein lipidation GO:1903061 9.16 RAB3GAP1 RAB3GAP2
10 establishment of protein localization to endoplasmic reticulum membrane GO:0097051 8.96 RAB3GAP1 RAB3GAP2
11 lipid droplet 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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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