MCID: WRB001
MIFTS: 32

Warburg Micro Syndrome

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

Aliases & Classifications for Warburg Micro Syndrome

MalaCards integrated aliases for Warburg Micro Syndrome:

Name: Warburg Micro Syndrome 12 37 29 6 15
Warburg Sjo Fledelius Syndrome 44 73
Warburg-Sjo-Fledelius Syndrome 12
Micro Syndrome 12
Warbm 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0060237
MeSH 44 C536681
KEGG 37 H00792
UMLS 73 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 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 29

Anatomical Context for Warburg Micro Syndrome

MalaCards organs/tissues related to Warburg Micro Syndrome:

41
Cortex, Eye

Publications for Warburg Micro Syndrome

Articles related to Warburg Micro Syndrome:

(show all 23)
# 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
Novel <i>RAB3GAP1</i> Mutations Causing Warburg Micro Syndrome in Two Italian Sisters. ( 29675078 )
2017
3
Warburg micro syndrome in siblings from India. ( 27195044 )
2016
4
Warburg micro syndrome type 1 associated with peripheral neuropathy and cardiomyopathy. ( 27764520 )
2016
5
RAB18, a protein associated with Warburg Micro syndrome, controls neuronal migration in the developing cerebral cortex. ( 26879639 )
2016
6
Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation. ( 26063829 )
2015
7
Novel RAB3GAP1 compound heterozygous mutations in Japanese siblings with Warburg Micro syndrome. ( 26421802 )
2015
8
Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndrome. ( 27081543 )
2015
9
Deletion 1q43-44 in a patient with clinical diagnosis of Warburg-Micro syndrome. ( 25899426 )
2015
10
A RAB3GAP1 SINE Insertion in Alaskan Huskies with Polyneuropathy, Ocular Abnormalities, and Neuronal Vacuolation (POANV) Resembling Human Warburg Micro Syndrome 1 (WARBM1). ( 26596647 )
2015
11
ENU mutagenesis identifies mice modeling Warburg Micro Syndrome with sensory axon degeneration caused by a deletion in Rab18. ( 25779931 )
2015
12
A novel mouse model of Warburg Micro syndrome reveals roles for RAB18 in eye development and organisation of the neuronal cytoskeleton. ( 24764192 )
2014
13
Large homozygous RAB3GAP1 gene microdeletion causes Warburg Micro Syndrome 1. ( 25332050 )
2014
14
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
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
Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome. ( 23420520 )
2013
17
Warburg micro syndrome in two children from a highly inbred Turkish family. ( 22876574 )
2012
18
Warburg Micro syndrome. ( 22768674 )
2012
19
A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome. ( 20967465 )
2011
20
Loss-of-function mutations in RAB18 cause Warburg micro syndrome. ( 21473985 )
2011
21
New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish. ( 20512159 )
2010
22
Warburg Micro syndrome in a Turkish boy. ( 17351351 )
2007
23
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 390)
# 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 RAB3GAP2 NM_012414.3(RAB3GAP2): c.2290C> T (p.Leu764Phe) single nucleotide variant Uncertain significance rs139337049 GRCh37 Chromosome 1, 220355619: 220355619
6 RAB3GAP2 NM_012414.3(RAB3GAP2): c.2290C> T (p.Leu764Phe) single nucleotide variant Uncertain significance rs139337049 GRCh38 Chromosome 1, 220182277: 220182277
7 RAB3GAP2 NM_012414.3(RAB3GAP2): c.3991C> A (p.Leu1331Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs149842844 GRCh37 Chromosome 1, 220324983: 220324983
8 RAB3GAP2 NM_012414.3(RAB3GAP2): c.3991C> A (p.Leu1331Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs149842844 GRCh38 Chromosome 1, 220151641: 220151641
9 RAB3GAP2 NM_012414.3(RAB3GAP2): c.*2923_*2925delCTT deletion Benign rs3217443 GRCh38 Chromosome 1, 220148326: 220148328
10 RAB3GAP2 NM_012414.3(RAB3GAP2): c.*2923_*2925delCTT deletion Benign rs3217443 GRCh37 Chromosome 1, 220321668: 220321670
11 RAB3GAP2 NM_012414.3(RAB3GAP2): c.*2518A> G single nucleotide variant Uncertain significance rs528100310 GRCh38 Chromosome 1, 220148733: 220148733
12 RAB3GAP2 NM_012414.3(RAB3GAP2): c.*2518A> G single nucleotide variant Uncertain significance rs528100310 GRCh37 Chromosome 1, 220322075: 220322075
13 RAB3GAP2 NM_012414.3(RAB3GAP2): c.*2450G> T single nucleotide variant Uncertain significance rs568052992 GRCh38 Chromosome 1, 220148801: 220148801
14 RAB3GAP2 NM_012414.3(RAB3GAP2): c.*2450G> T single nucleotide variant Uncertain significance rs568052992 GRCh37 Chromosome 1, 220322143: 220322143
15 RAB3GAP2 NM_012414.3(RAB3GAP2): c.*2347T> C single nucleotide variant Uncertain significance rs886046010 GRCh38 Chromosome 1, 220148904: 220148904
16 RAB3GAP2 NM_012414.3(RAB3GAP2): c.*2347T> C single nucleotide variant Uncertain significance rs886046010 GRCh37 Chromosome 1, 220322246: 220322246
17 RAB3GAP2 NM_012414.3(RAB3GAP2): c.*2338_*2339delAT deletion Uncertain significance rs886046011 GRCh38 Chromosome 1, 220148912: 220148913
18 RAB3GAP2 NM_012414.3(RAB3GAP2): c.*2338_*2339delAT deletion Uncertain significance rs886046011 GRCh37 Chromosome 1, 220322254: 220322255
19 RAB3GAP2 NM_012414.3(RAB3GAP2): c.*2098_*2101delAAAT deletion Uncertain significance rs886046013 GRCh38 Chromosome 1, 220149150: 220149153
20 RAB3GAP2 NM_012414.3(RAB3GAP2): c.*2098_*2101delAAAT deletion Uncertain significance rs886046013 GRCh37 Chromosome 1, 220322492: 220322495
21 RAB3GAP2 NM_012414.3(RAB3GAP2): c.*1143A> G single nucleotide variant Uncertain significance rs865932881 GRCh38 Chromosome 1, 220150108: 220150108
22 RAB3GAP2 NM_012414.3(RAB3GAP2): c.*1143A> G single nucleotide variant Uncertain significance rs865932881 GRCh37 Chromosome 1, 220323450: 220323450
23 RAB3GAP2 NM_012414.3(RAB3GAP2): c.*798_*799dupAA duplication Uncertain significance rs374222775 GRCh38 Chromosome 1, 220150452: 220150453
24 RAB3GAP2 NM_012414.3(RAB3GAP2): c.*798_*799dupAA duplication Uncertain significance rs374222775 GRCh37 Chromosome 1, 220323794: 220323795
25 RAB3GAP2 NM_012414.3(RAB3GAP2): c.*537G> C single nucleotide variant Uncertain significance rs886046015 GRCh38 Chromosome 1, 220150714: 220150714
26 RAB3GAP2 NM_012414.3(RAB3GAP2): c.*537G> C single nucleotide variant Uncertain significance rs886046015 GRCh37 Chromosome 1, 220324056: 220324056
27 RAB3GAP2 NM_012414.3(RAB3GAP2): c.3978G> T (p.Glu1326Asp) single nucleotide variant Uncertain significance rs886046017 GRCh38 Chromosome 1, 220151654: 220151654
28 RAB3GAP2 NM_012414.3(RAB3GAP2): c.3978G> T (p.Glu1326Asp) single nucleotide variant Uncertain significance rs886046017 GRCh37 Chromosome 1, 220324996: 220324996
29 RAB3GAP2 NM_012414.3(RAB3GAP2): c.3143A> G (p.His1048Arg) single nucleotide variant Uncertain significance rs151244742 GRCh38 Chromosome 1, 220164744: 220164744
30 RAB3GAP2 NM_012414.3(RAB3GAP2): c.3143A> G (p.His1048Arg) single nucleotide variant Uncertain significance rs151244742 GRCh37 Chromosome 1, 220338086: 220338086
31 RAB3GAP2 NM_012414.3(RAB3GAP2): c.2527G> A (p.Val843Ile) single nucleotide variant Uncertain significance rs753147106 GRCh38 Chromosome 1, 220171939: 220171939
32 RAB3GAP2 NM_012414.3(RAB3GAP2): c.2527G> A (p.Val843Ile) single nucleotide variant Uncertain significance rs753147106 GRCh37 Chromosome 1, 220345281: 220345281
33 RAB3GAP2 NM_012414.3(RAB3GAP2): c.2304G> A (p.Leu768=) single nucleotide variant Conflicting interpretations of pathogenicity rs140146408 GRCh38 Chromosome 1, 220182263: 220182263
34 RAB3GAP2 NM_012414.3(RAB3GAP2): c.2304G> A (p.Leu768=) single nucleotide variant Conflicting interpretations of pathogenicity rs140146408 GRCh37 Chromosome 1, 220355605: 220355605
35 RAB3GAP2 NM_012414.3(RAB3GAP2): c.1709A> G (p.Asn570Ser) single nucleotide variant Uncertain significance rs143286302 GRCh38 Chromosome 1, 220190069: 220190069
36 RAB3GAP2 NM_012414.3(RAB3GAP2): c.1709A> G (p.Asn570Ser) single nucleotide variant Uncertain significance rs143286302 GRCh37 Chromosome 1, 220363411: 220363411
37 RAB3GAP2 NM_012414.3(RAB3GAP2): c.1069G> A (p.Glu357Lys) single nucleotide variant Uncertain significance rs779972563 GRCh38 Chromosome 1, 220195139: 220195139
38 RAB3GAP2 NM_012414.3(RAB3GAP2): c.1069G> A (p.Glu357Lys) single nucleotide variant Uncertain significance rs779972563 GRCh37 Chromosome 1, 220368481: 220368481
39 RAB3GAP2 NM_012414.3(RAB3GAP2): c.39C> T (p.Asp13=) single nucleotide variant Conflicting interpretations of pathogenicity rs145667920 GRCh38 Chromosome 1, 220272299: 220272299
40 RAB3GAP2 NM_012414.3(RAB3GAP2): c.39C> T (p.Asp13=) single nucleotide variant Conflicting interpretations of pathogenicity rs145667920 GRCh37 Chromosome 1, 220445641: 220445641
41 RAB3GAP2 NM_012414.3(RAB3GAP2): c.-86T> C single nucleotide variant Uncertain significance rs535968000 GRCh38 Chromosome 1, 220272423: 220272423
42 RAB3GAP2 NM_012414.3(RAB3GAP2): c.-86T> C single nucleotide variant Uncertain significance rs535968000 GRCh37 Chromosome 1, 220445765: 220445765
43 RAB3GAP2 NM_012414.3(RAB3GAP2): c.-132G> A single nucleotide variant Uncertain significance rs572492875 GRCh38 Chromosome 1, 220272469: 220272469
44 RAB3GAP2 NM_012414.3(RAB3GAP2): c.-132G> A single nucleotide variant Uncertain significance rs572492875 GRCh37 Chromosome 1, 220445811: 220445811
45 RAB3GAP2 NM_012414.3(RAB3GAP2): c.*2643T> C single nucleotide variant Uncertain significance rs886046007 GRCh38 Chromosome 1, 220148608: 220148608
46 RAB3GAP2 NM_012414.3(RAB3GAP2): c.*2643T> C single nucleotide variant Uncertain significance rs886046007 GRCh37 Chromosome 1, 220321950: 220321950
47 RAB3GAP2 NM_012414.3(RAB3GAP2): c.*2551_*2552delTA deletion Uncertain significance rs886046008 GRCh38 Chromosome 1, 220148699: 220148700
48 RAB3GAP2 NM_012414.3(RAB3GAP2): c.*2551_*2552delTA deletion Uncertain significance rs886046008 GRCh37 Chromosome 1, 220322041: 220322042
49 RAB3GAP2 NM_012414.3(RAB3GAP2): c.*2512delA deletion Uncertain significance rs548073728 GRCh38 Chromosome 1, 220148739: 220148739
50 RAB3GAP2 NM_012414.3(RAB3GAP2): c.*2512delA deletion Uncertain significance rs548073728 GRCh37 Chromosome 1, 220322081: 220322081

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 positive regulation of GTPase activity GO:0043547 9.58 RAB3GAP1 RAB3GAP2 TBC1D20
2 intracellular protein transport GO:0006886 9.54 RAB18 RAB2A RAB3GAP2
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 protein lipidation GO:1903061 9.26 RAB3GAP1 RAB3GAP2
9 positive regulation of endoplasmic reticulum tubular network organization GO:1903373 9.16 RAB3GAP1 RAB3GAP2
10 establishment of protein localization to endoplasmic reticulum membrane GO:0097051 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:

# 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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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