WARBM
MCID: WRB001
MIFTS: 38

Warburg Micro Syndrome (WARBM)

Categories: Eye diseases, Fetal 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 37 29 6 15
Warburg Sjo Fledelius Syndrome 44 72
Warburg-Sjo-Fledelius Syndrome 12
Micro Syndrome 12
Warbm 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0060237
KEGG 37 H00792
MeSH 44 C536681
UMLS 72 C1838625

Summaries for Warburg Micro Syndrome

KEGG : 37
Warburg micro syndrome (WARBM) is a rare, autosomal recessive condition characterized by congenital microcephaly, mental retardation, microcornea, cataracts, hypotonic diplegia and hypothalamic hypogonadism. The neurological manifestations including corpus callosum hypoplasia, cortical dystrophy, and microphthalmia are severe in Warburg micro syndrome.

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.

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.

Related Diseases for Warburg Micro Syndrome

Diseases in the Warburg Micro Syndrome family:

Warburg Micro Syndrome 1 Warburg Micro Syndrome 3
Warburg Micro Syndrome 2 Warburg Micro Syndrome 4

Diseases related to Warburg Micro Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 59)
# Related Disease Score Top Affiliating Genes
1 warburg micro syndrome 1 33.4 TBC1D20 RAB3GAP2 RAB3GAP1 RAB18
2 warburg micro syndrome 2 33.3 TBC1D20 RAB3GAP2 RAB3GAP1 RAB18
3 warburg micro syndrome 4 32.7 TBC1D20 RAB3GAP2 RAB3GAP1 RAB2A RAB18
4 rab18 deficiency 32.6 TBC1D20 RAB3GAP1 RAB18
5 martsolf syndrome 31.3 RAB3GAP2 RAB3GAP1 RAB18 IARS2
6 microcephaly 29.0 TBC1D20 RAB3GAP2 RAB3GAP1 RAB18
7 spastic diplegia 28.9 TBC1D20 RAB3GAP2 RAB3GAP1 RAB18
8 warburg micro syndrome 3 13.0
9 cataract 10.5
10 microphthalmia 10.4
11 autosomal recessive disease 10.4
12 3-methylglutaconic aciduria, type iii 10.3
13 alacrima, achalasia, and mental retardation syndrome 10.3
14 hypogonadism 10.3
15 hypogonadotropism 10.3
16 spasticity 10.2
17 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.1
18 neuropathy 10.1
19 polymicrogyria 10.1
20 hypotonia 10.1
21 atrial standstill 1 10.0
22 cryptorchidism, unilateral or bilateral 10.0
23 pseudovaginal perineoscrotal hypospadias 10.0
24 ataxia and polyneuropathy, adult-onset 10.0
25 chromosome 1p36 deletion syndrome 10.0
26 ptosis 10.0
27 charcot-marie-tooth disease 10.0
28 male infertility 10.0
29 polyneuropathy 10.0
30 sensory peripheral neuropathy 10.0
31 cutis laxa 10.0
32 hypertrichosis 10.0
33 infertility 10.0
34 peripheral nervous system disease 10.0
35 rubella 10.0
36 toxoplasmosis 10.0
37 hypermobile ehlers-danlos syndrome 10.0
38 cerebral atrophy 10.0
39 steroid-induced glaucoma 9.9 RAB3GAP2 RAB3GAP1
40 coloboma of macula 9.6
41 retinal detachment 9.6
42 cerebrooculofacioskeletal syndrome 1 9.6
43 hydrocephalus, congenital, 1 9.6
44 neu-laxova syndrome 1 9.6
45 smith-lemli-opitz syndrome 9.6
46 opitz gbbb syndrome, type i 9.6
47 microphthalmia, syndromic 1 9.6
48 yemenite deaf-blind hypopigmentation syndrome 9.6
49 cerebrooculofacioskeletal syndrome 2 9.6
50 cerebrooculofacioskeletal syndrome 4 9.6

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
Eye, Cortex

Publications for Warburg Micro Syndrome

Articles related to Warburg Micro Syndrome:

(show all 43)
# Title Authors PMID 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. 38
30721447 2019
2
Rab18: new insights into the function of an essential protein. 38
30830238 2019
3
[Warburg-Micro syndrome caused by 1q43-q44 deletion: genotypic and phenotypic analysis in a child]. 38
30022763 2018
4
Case report of four siblings in southeast Turkey with a novel RAB3GAP2 splice site mutation: Warburg micro syndrome or Martsolf syndrome? 38
29419336 2018
5
RAB18 Deficiency 38
29300443 2018
6
Novel RAB3GAP1 Mutations Causing Warburg Micro Syndrome in Two Italian Sisters. 38
29675078 2017
7
Neuronal vacuolation and spinocerebellar degeneration associated with altered neurotransmission. 38
28677370 2017
8
TBC1D20 mediates autophagy as a key regulator of autophagosome maturation. 38
27487390 2016
9
Early detection of bilateral cataracts in utero may represent a manifestation of severe congenital disease. 38
27256633 2016
10
Novel RAB3GAP1 compound heterozygous mutations in Japanese siblings with Warburg Micro syndrome. 38
26421802 2016
11
Consanguinity as an Adjunct Diagnostic Tool. 38
26138576 2016
12
RAB18, a protein associated with Warburg Micro syndrome, controls neuronal migration in the developing cerebral cortex. 38
26879639 2016
13
A mutation in the Warburg syndrome gene, RAB3GAP1, causes a similar syndrome with polyneuropathy and neuronal vacuolation in Black Russian Terrier dogs. 38
26607784 2016
14
Warburg micro syndrome type 1 associated with peripheral neuropathy and cardiomyopathy. 38
27764520 2016
15
Warburg micro syndrome in siblings from India. 38
27195044 2016
16
A RAB3GAP1 SINE Insertion in Alaskan Huskies with Polyneuropathy, Ocular Abnormalities, and Neuronal Vacuolation (POANV) Resembling Human Warburg Micro Syndrome 1 (WARBM1). 38
26596647 2015
17
Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation. 38
26063829 2015
18
Deletion 1q43-44 in a patient with clinical diagnosis of Warburg-Micro syndrome. 38
25899426 2015
19
Homozygous MED25 mutation implicated in eye-intellectual disability syndrome. 38
25792360 2015
20
ENU mutagenesis identifies mice modeling Warburg Micro Syndrome with sensory axon degeneration caused by a deletion in Rab18. 38
25779931 2015
21
Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndrome. 38
27081543 2015
22
RECURRENT RAB3GAP1 MUTATIONS IN THE TURKISH POPULATION. 38
26852512 2015
23
Targeted disruption of Tbc1d20 with zinc-finger nucleases causes cataracts and testicular abnormalities in mice. 38
25476608 2014
24
Large homozygous RAB3GAP1 gene microdeletion causes Warburg micro syndrome 1. 38
25332050 2014
25
The association of RAB18 gene polymorphism (rs3765133) with cerebellar volume in healthy adults. 38
24996981 2014
26
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. 38
25077174 2014
27
A novel mouse model of Warburg Micro syndrome reveals roles for RAB18 in eye development and organisation of the neuronal cytoskeleton. 38
24764192 2014
28
Genetic disorders associated with postnatal microcephaly. 38
24839169 2014
29
Rab18 and a Rab18 GEF complex are required for normal ER structure. 38
24891604 2014
30
Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans. 38
24239381 2013
31
Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome. 38
23420520 2013
32
Angelman syndrome and severe infections in a patient with de novo 15q11.2-q13.1 deletion and maternally inherited 2q21.3 microdeletion. 38
23124039 2013
33
Warburg micro syndrome in two children from a highly inbred Turkish family. 38
22876574 2012
34
Warburg Micro syndrome. 38
22768674 2012
35
Loss-of-function mutations in RAB18 cause Warburg micro syndrome. 38
21473985 2011
36
A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome. 38
20967465 2011
37
New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish. 38
20512159 2010
38
Rab proteins and Rab-associated proteins: major actors in the mechanism of protein-trafficking disorders. 38
18463892 2008
39
Analysis on the emerging role of Rab3 GTPase-activating protein in Warburg Micro and Martsolf syndrome. 38
18413245 2008
40
Warburg Micro syndrome in a Turkish boy. 38
17351351 2007
41
Rab3 GTPase-activating protein regulates synaptic transmission and plasticity through the inactivation of Rab3. 38
16782817 2006
42
Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome. 38
16532399 2006
43
Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome. 38
15696165 2005

Variations for Warburg Micro Syndrome

ClinVar genetic disease variations for Warburg Micro Syndrome:

6 (show top 50) (show all 208)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 RAB3GAP1 NM_001172435.2(RAB3GAP1): c.2463C> T (p.Phe821=) single nucleotide variant Conflicting interpretations of pathogenicity rs61748693 2:135920394-135920394 2:135162824-135162824
2 RAB3GAP2 NM_012414.4(RAB3GAP2): c.2008C> G (p.Leu670Val) single nucleotide variant Conflicting interpretations of pathogenicity rs201613456 1:220356264-220356264 1:220182922-220182922
3 RAB3GAP1 NM_001172435.2(RAB3GAP1): c.1006C> T (p.Arg336Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs150478342 2:135887597-135887597 2:135130027-135130027
4 RAB3GAP2 NM_012414.4(RAB3GAP2): c.3991C> A (p.Leu1331Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs149842844 1:220324983-220324983 1:220151641-220151641
5 RAB3GAP2 NM_012414.4(RAB3GAP2): c.39C> T (p.Asp13=) single nucleotide variant Conflicting interpretations of pathogenicity rs145667920 1:220445641-220445641 1:220272299-220272299
6 RAB3GAP2 NM_012414.4(RAB3GAP2): c.2168T> A (p.Val723Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs150643803 1:220356104-220356104 1:220182762-220182762
7 RAB3GAP2 NM_012414.4(RAB3GAP2): c.2304G> A (p.Leu768=) single nucleotide variant Conflicting interpretations of pathogenicity rs140146408 1:220355605-220355605 1:220182263-220182263
8 RAB3GAP2 NM_012414.4(RAB3GAP2): c.3867+13C> T single nucleotide variant Conflicting interpretations of pathogenicity rs200579008 1:220326514-220326514 1:220153172-220153172
9 RAB3GAP2 NM_012414.4(RAB3GAP2): c.304+12A> G single nucleotide variant Conflicting interpretations of pathogenicity rs530311696 1:220387186-220387186 1:220213844-220213844
10 RAB3GAP2 NM_012414.4(RAB3GAP2): c.3390G> A (p.Ala1130=) single nucleotide variant Conflicting interpretations of pathogenicity rs140377995 1:220330777-220330777 1:220157435-220157435
11 RAB3GAP2 NM_012414.4(RAB3GAP2): c.2807-15G> A single nucleotide variant Conflicting interpretations of pathogenicity rs200407685 1:220341032-220341032 1:220167690-220167690
12 RAB3GAP1 NM_001172435.2(RAB3GAP1): c.411C> T (p.Asp137=) single nucleotide variant Conflicting interpretations of pathogenicity rs140929274 2:135870769-135870769 2:135113199-135113199
13 RAB18 NM_021252.5(RAB18): c.-20C> T single nucleotide variant Conflicting interpretations of pathogenicity rs74127323 10:27793279-27793279 10:27504350-27504350
14 RAB18 NM_021252.5(RAB18): c.*741A> G single nucleotide variant Uncertain significance rs114899806 10:27827721-27827721 10:27538792-27538792
15 RAB18 NM_021252.5(RAB18): c.*1089C> A single nucleotide variant Uncertain significance rs189434439 10:27828069-27828069 10:27539140-27539140
16 RAB18 NM_021252.5(RAB18): c.*1502G> C single nucleotide variant Uncertain significance rs767488036 10:27828482-27828482 10:27539553-27539553
17 RAB18 NM_021252.5(RAB18): c.*1680A> T single nucleotide variant Uncertain significance rs886046972 10:27828660-27828660 10:27539731-27539731
18 RAB18 NM_021252.5(RAB18): c.*3701_*3704GACT[1] short repeat Uncertain significance rs759695566 10:27830685-27830688 10:27541756-27541759
19 RAB18 NM_021252.5(RAB18): c.*3927A> G single nucleotide variant Uncertain significance rs886046981 10:27830907-27830907 10:27541978-27541978
20 RAB18 NM_001256410.1(RAB18): c.-83C> A single nucleotide variant Uncertain significance rs115326586 10:27793216-27793216 10:27504287-27504287
21 RAB18 NM_001256410.1(RAB18): c.-182G> A single nucleotide variant Uncertain significance rs770568854 10:27793117-27793117 10:27504188-27504188
22 RAB18 NM_001256410.1(RAB18): c.-144T> A single nucleotide variant Uncertain significance rs780539442 10:27793155-27793155 10:27504226-27504226
23 RAB18 NM_021252.5(RAB18): c.-41A> G single nucleotide variant Uncertain significance rs770276006 10:27793258-27793258 10:27504329-27504329
24 RAB18 NM_021252.5(RAB18): c.454G> A (p.Ala152Thr) single nucleotide variant Uncertain significance rs886046967 10:27826813-27826813 10:27537884-27537884
25 RAB18 NM_021252.5(RAB18): c.*16A> G single nucleotide variant Uncertain significance rs886046968 10:27826996-27826996 10:27538067-27538067
26 RAB18 NM_021252.5(RAB18): c.*402T> C single nucleotide variant Uncertain significance rs555933024 10:27827382-27827382 10:27538453-27538453
27 RAB18 NM_021252.5(RAB18): c.*2943A> G single nucleotide variant Uncertain significance rs886046975 10:27829923-27829923 10:27540994-27540994
28 RAB18 NM_021252.5(RAB18): c.*2974C> G single nucleotide variant Uncertain significance rs532562164 10:27829954-27829954 10:27541025-27541025
29 RAB18 NM_021252.5(RAB18): c.*3167G> A single nucleotide variant Uncertain significance rs546186493 10:27830147-27830147 10:27541218-27541218
30 RAB18 NM_001256410.1(RAB18): c.-79T> A single nucleotide variant Uncertain significance rs886046964 10:27793220-27793220 10:27504291-27504291
31 RAB18 NM_021252.5(RAB18): c.36C> A (p.Leu12=) single nucleotide variant Uncertain significance rs61757825 10:27793334-27793334 10:27504405-27504405
32 RAB18 NM_021252.5(RAB18): c.298G> C (p.Asp100His) single nucleotide variant Uncertain significance rs748274360 10:27822702-27822702 10:27533773-27533773
33 RAB18 NM_021252.5(RAB18): c.*62C> T single nucleotide variant Uncertain significance rs886046969 10:27827042-27827042 10:27538113-27538113
34 RAB18 NM_021252.5(RAB18): c.*3166C> T single nucleotide variant Uncertain significance rs886046977 10:27830146-27830146 10:27541217-27541217
35 RAB18 NM_021252.5(RAB18): c.*254A> G single nucleotide variant Uncertain significance rs75899834 10:27827234-27827234 10:27538305-27538305
36 RAB18 NM_021252.5(RAB18): c.*557G> A single nucleotide variant Uncertain significance rs77758705 10:27827537-27827537 10:27538608-27538608
37 RAB18 NM_021252.5(RAB18): c.*3193C> T single nucleotide variant Uncertain significance rs886046978 10:27830173-27830173 10:27541244-27541244
38 RAB18 NM_021252.5(RAB18): c.*2862T> C single nucleotide variant Uncertain significance rs767741672 10:27829842-27829842 10:27540913-27540913
39 RAB18 NM_021252.5(RAB18): c.*3293del deletion Uncertain significance rs573606717 10:27830273-27830273 10:27541344-27541344
40 RAB18 NM_021252.5(RAB18): c.*3599dup duplication Uncertain significance rs779470678 10:27830579-27830579 10:27541650-27541650
41 RAB18 NM_021252.5(RAB18): c.*3729G> C single nucleotide variant Uncertain significance rs530960985 10:27830709-27830709 10:27541780-27541780
42 RAB3GAP1 NM_001172435.2(RAB3GAP1): c.1175G> A (p.Arg392Gln) single nucleotide variant Uncertain significance rs201430480 2:135888230-135888230 2:135130660-135130660
43 RAB3GAP1 NM_001172435.2(RAB3GAP1): c.*170C> T single nucleotide variant Uncertain significance rs180839370 2:135926521-135926521 2:135168951-135168951
44 RAB3GAP2 NM_012414.4(RAB3GAP2): c.-78C> T single nucleotide variant Uncertain significance rs557235116 1:220445757-220445757 1:220272415-220272415
45 RAB3GAP1 NM_001172435.2(RAB3GAP1): c.94G> A (p.Glu32Lys) single nucleotide variant Uncertain significance rs143078664 2:135815600-135815600 2:135058030-135058030
46 RAB3GAP1 NM_001172435.2(RAB3GAP1): c.372A> G (p.Leu124=) single nucleotide variant Uncertain significance rs886054850 2:135870730-135870730 2:135113160-135113160
47 RAB3GAP1 NM_001172435.2(RAB3GAP1): c.1681C> G (p.Leu561Val) single nucleotide variant Uncertain significance rs200175711 2:135893260-135893260 2:135135690-135135690
48 RAB3GAP1 NM_001172435.2(RAB3GAP1): c.*1611A> T single nucleotide variant Uncertain significance rs188370805 2:135927962-135927962 2:135170392-135170392
49 RAB3GAP1 NM_001172435.2(RAB3GAP1): c.*1693G> C single nucleotide variant Uncertain significance rs144378327 2:135928044-135928044 2:135170474-135170474
50 RAB3GAP1 NM_001172435.2(RAB3GAP1): c.393C> T (p.Ala131=) single nucleotide variant Uncertain significance rs779596900 2:135870751-135870751 2:135113181-135113181

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 TBC1D20 RAB2A
2 endoplasmic reticulum membrane GO:0005789 9.02 TBC1D20 RAB3GAP2 RAB3GAP1 RAB2A RAB18
3 endoplasmic reticulum tubular network GO:0071782 8.96 RAB3GAP1 RAB18

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 RAB3GAP2 RAB2A RAB18
2 positive regulation of GTPase activity GO:0043547 9.54 TBC1D20 RAB3GAP2 RAB3GAP1
3 Golgi organization GO:0007030 9.49 TBC1D20 RAB2A
4 regulation of GTPase activity GO:0043087 9.48 RAB3GAP2 RAB3GAP1
5 Rab protein signal transduction GO:0032482 9.46 RAB2A RAB18
6 camera-type eye development GO:0043010 9.43 TBC1D20 RAB3GAP1
7 positive regulation of autophagosome assembly GO:2000786 9.32 RAB3GAP2 RAB3GAP1
8 positive regulation of protein lipidation GO:1903061 9.26 RAB3GAP2 RAB3GAP1
9 positive regulation of endoplasmic reticulum tubular network organization GO:1903373 9.16 RAB3GAP2 RAB3GAP1
10 establishment of protein localization to endoplasmic reticulum membrane GO:0097051 8.96 RAB3GAP2 RAB3GAP1
11 lipid droplet organization GO:0034389 8.8 TBC1D20 RAB3GAP1 RAB18

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 RAB2A RAB18
2 Rab guanyl-nucleotide exchange factor activity GO:0017112 9.16 RAB3GAP2 RAB3GAP1
3 GTPase activator activity GO:0005096 9.13 TBC1D20 RAB3GAP2 RAB3GAP1
4 Rab GTPase binding GO:0017137 8.8 TBC1D20 RAB3GAP2 RAB3GAP1

Sources for Warburg Micro Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....