WARBM2
MCID: WRB003
MIFTS: 41

Warburg Micro Syndrome 2 (WARBM2)

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

Aliases & Classifications for Warburg Micro Syndrome 2

MalaCards integrated aliases for Warburg Micro Syndrome 2:

Name: Warburg Micro Syndrome 2 57 12 72 29 13 6 15 70
Micro Syndrome 2 57 12 72
Warbm2 57 12 72
Warburg Micro Syndrome, Type 2 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
warburg micro syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Warburg Micro Syndrome 2

UniProtKB/Swiss-Prot : 72 Warburg micro syndrome 2: A rare syndrome characterized by microcephaly, microphthalmia, microcornia, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism.

MalaCards based summary : Warburg Micro Syndrome 2, also known as micro syndrome 2, is related to spastic cerebral palsy and lens disease. An important gene associated with Warburg Micro Syndrome 2 is RAB3GAP2 (RAB3 GTPase Activating Non-Catalytic Protein Subunit 2), and among its related pathways/superpathways are Vesicle-mediated transport and Sertoli-Sertoli Cell Junction Dynamics. Affiliated tissues include eye and brain, and related phenotypes are macrotia and short nose

Disease Ontology : 12 A Warburg micro syndrome that has material basis in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB3GAP2 gene on chromosome 1q41.

More information from OMIM: 614225 PS600118

Related Diseases for Warburg Micro Syndrome 2

Graphical network of the top 20 diseases related to Warburg Micro Syndrome 2:



Diseases related to Warburg Micro Syndrome 2

Symptoms & Phenotypes for Warburg Micro Syndrome 2

Human phenotypes related to Warburg Micro Syndrome 2:

31 (show all 27)
# Description HPO Frequency HPO Source Accession
1 macrotia 31 HP:0000400
2 short nose 31 HP:0003196
3 optic atrophy 31 HP:0000648
4 flexion contracture 31 HP:0001371
5 brachycephaly 31 HP:0000248
6 intellectual disability, severe 31 HP:0010864
7 absent speech 31 HP:0001344
8 cryptorchidism 31 HP:0000028
9 postnatal growth retardation 31 HP:0008897
10 micropenis 31 HP:0000054
11 microphthalmia 31 HP:0000568
12 low anterior hairline 31 HP:0000294
13 prominent nasal bridge 31 HP:0000426
14 severe global developmental delay 31 HP:0011344
15 microcornea 31 HP:0000482
16 polymicrogyria 31 HP:0002126
17 scrotal hypoplasia 31 HP:0000046
18 hypoplastic labia majora 31 HP:0000059
19 hypoplasia of the corpus callosum 31 HP:0002079
20 postnatal microcephaly 31 HP:0005484
21 spastic diplegia 31 HP:0001264
22 muscular hypotonia of the trunk 31 HP:0008936
23 developmental cataract 31 HP:0000519
24 overlapping toe 31 HP:0001845
25 global brain atrophy 31 HP:0002283
26 asymmetry of the ears 31 HP:0010722
27 undetectable visual evoked potentials 31 HP:0007965

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
global developmental delay
severe mental retardation
hypoplastic corpus callosum
axial hypotonia
generalized brain atrophy
more
Head And Neck Head:
brachycephaly
postnatal microcephaly

Growth Height:
postnatal growth retardation

Head And Neck Eyes:
microphthalmia
microcornea
optic nerve atrophy
congenital cataracts, bilateral
atonic pupils
more
Skin Nails Hair Hair:
low anterior hairline

Head And Neck Ears:
large ears
asymmetric ears

Skeletal Limbs:
contractures

Head And Neck Nose:
short nose
prominent nasal root

Genitourinary Internal Genitalia Male:
cryptorchidism

Genitourinary External Genitalia Male:
micropenis
scrotal hypoplasia

Head And Neck Face:
low anterior hairline

Skeletal Skull:
microcephaly, postnatal

Skeletal Feet:
overlapping toes

Genitourinary External Genitalia Female:
hypoplasia of labia majora

Clinical features from OMIM®:

614225 (Updated 20-May-2021)

Drugs & Therapeutics for Warburg Micro Syndrome 2

Search Clinical Trials , NIH Clinical Center for Warburg Micro Syndrome 2

Genetic Tests for Warburg Micro Syndrome 2

Genetic tests related to Warburg Micro Syndrome 2:

# Genetic test Affiliating Genes
1 Warburg Micro Syndrome 2 29 RAB3GAP2

Anatomical Context for Warburg Micro Syndrome 2

MalaCards organs/tissues related to Warburg Micro Syndrome 2:

40
Eye, Brain

Publications for Warburg Micro Syndrome 2

Articles related to Warburg Micro Syndrome 2:

# Title Authors PMID Year
1
Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome. 6 57
23420520 2013
2
A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome. 6 57
20967465 2011
3
Case report of four siblings in southeast Turkey with a novel RAB3GAP2 splice site mutation: Warburg micro syndrome or Martsolf syndrome? 61
29419336 2018

Variations for Warburg Micro Syndrome 2

ClinVar genetic disease variations for Warburg Micro Syndrome 2:

6 (show top 50) (show all 187)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RAB3GAP2 NM_012414.4(RAB3GAP2):c.1434G>A (p.Trp478Ter) SNV Pathogenic 100788 rs587777168 GRCh37: 1:220364463-220364463
GRCh38: 1:220191121-220191121
2 RAB3GAP2 NM_012414.4(RAB3GAP2):c.3637C>T (p.Arg1213Ter) SNV Pathogenic 100789 rs587777169 GRCh37: 1:220327318-220327318
GRCh38: 1:220153976-220153976
3 RAB3GAP2 NM_012414.4(RAB3GAP2):c.3085G>T (p.Glu1029Ter) SNV Pathogenic 100790 rs587777170 GRCh37: 1:220340637-220340637
GRCh38: 1:220167295-220167295
4 RAB3GAP2 NM_012414.4(RAB3GAP2):c.2207dup (p.Leu737fs) Duplication Pathogenic 436479 rs1553275687 GRCh37: 1:220356064-220356065
GRCh38: 1:220182722-220182723
5 RAB3GAP2 NM_012414.4(RAB3GAP2):c.499_507del (p.Phe167_Thr169del) Deletion Pathogenic 30782 rs1553278569 GRCh37: 1:220384146-220384154
GRCh38: 1:220210804-220210812
6 RAB3GAP2 NM_012414.4(RAB3GAP2):c.1276C>T (p.Arg426Cys) SNV Pathogenic 100787 rs587777167 GRCh37: 1:220364621-220364621
GRCh38: 1:220191279-220191279
7 RAB3GAP2 NM_012414.4(RAB3GAP2):c.713-2A>G SNV Likely pathogenic 208607 rs797045103 GRCh37: 1:220375718-220375718
GRCh38: 1:220202376-220202376
8 RAB3GAP2 NM_012414.4(RAB3GAP2):c.2290C>T (p.Leu764Phe) SNV Conflicting interpretations of pathogenicity 235683 rs139337049 GRCh37: 1:220355619-220355619
GRCh38: 1:220182277-220182277
9 RAB3GAP2 NM_012414.4(RAB3GAP2):c.3805G>A (p.Val1269Ile) SNV Uncertain significance 463031 rs778851334 GRCh37: 1:220326589-220326589
GRCh38: 1:220153247-220153247
10 RAB3GAP2 NM_012414.4(RAB3GAP2):c.3112A>G (p.Ile1038Val) SNV Uncertain significance 295644 rs144779240 GRCh37: 1:220338117-220338117
GRCh38: 1:220164775-220164775
11 RAB3GAP2 NM_012414.4(RAB3GAP2):c.1511T>C (p.Ile504Thr) SNV Uncertain significance 463027 rs1553276414 GRCh37: 1:220363839-220363839
GRCh38: 1:220190497-220190497
12 RAB3GAP2 NM_012414.4(RAB3GAP2):c.1258C>T (p.Arg420Cys) SNV Uncertain significance 463026 rs188522997 GRCh37: 1:220366594-220366594
GRCh38: 1:220193252-220193252
13 RAB3GAP2 NM_012414.4(RAB3GAP2):c.*108T>A SNV Uncertain significance 295637 rs886046016 GRCh37: 1:220324485-220324485
GRCh38: 1:220151143-220151143
14 RAB3GAP2 NM_012414.4(RAB3GAP2):c.1131-4T>C SNV Uncertain significance 295663 rs752780415 GRCh37: 1:220366725-220366725
GRCh38: 1:220193383-220193383
15 RAB3GAP2 NM_012414.4(RAB3GAP2):c.*2518A>G SNV Uncertain significance 295607 rs528100310 GRCh37: 1:220322075-220322075
GRCh38: 1:220148733-220148733
16 RAB3GAP2 NM_012414.4(RAB3GAP2):c.1069G>A (p.Glu357Lys) SNV Uncertain significance 295664 rs779972563 GRCh37: 1:220368481-220368481
GRCh38: 1:220195139-220195139
17 RAB3GAP2 NM_012414.4(RAB3GAP2):c.46G>A (p.Ala16Thr) SNV Uncertain significance 295672 rs201514595 GRCh37: 1:220445634-220445634
GRCh38: 1:220272292-220272292
18 RAB3GAP2 NM_012414.4(RAB3GAP2):c.*1143A>G SNV Uncertain significance 295628 rs865932881 GRCh37: 1:220323450-220323450
GRCh38: 1:220150108-220150108
19 RAB3GAP2 NM_012414.4(RAB3GAP2):c.-87A>G SNV Uncertain significance 295677 rs576041163 GRCh37: 1:220445766-220445766
GRCh38: 1:220272424-220272424
20 RAB3GAP2 NM_012414.4(RAB3GAP2):c.3978G>T (p.Glu1326Asp) SNV Uncertain significance 295638 rs886046017 GRCh37: 1:220324996-220324996
GRCh38: 1:220151654-220151654
21 RAB3GAP2 NM_012414.4(RAB3GAP2):c.-48A>G SNV Uncertain significance 295674 rs767297724 GRCh37: 1:220445727-220445727
GRCh38: 1:220272385-220272385
22 RAB3GAP2 NM_012414.4(RAB3GAP2):c.3867+13C>T SNV Uncertain significance 295640 rs200579008 GRCh37: 1:220326514-220326514
GRCh38: 1:220153172-220153172
23 RAB3GAP2 NM_012414.4(RAB3GAP2):c.*2450G>T SNV Uncertain significance 295611 rs568052992 GRCh37: 1:220322143-220322143
GRCh38: 1:220148801-220148801
24 RAB3GAP2 NM_012414.4(RAB3GAP2):c.383A>C (p.Glu128Ala) SNV Uncertain significance 295670 rs886046024 GRCh37: 1:220386232-220386232
GRCh38: 1:220212890-220212890
25 RAB3GAP2 NM_012414.4(RAB3GAP2):c.*1335C>T SNV Uncertain significance 295624 rs747221160 GRCh37: 1:220323258-220323258
GRCh38: 1:220149916-220149916
26 RAB3GAP2 NM_012414.4(RAB3GAP2):c.3112A>G (p.Ile1038Val) SNV Uncertain significance 295644 rs144779240 GRCh37: 1:220338117-220338117
GRCh38: 1:220164775-220164775
27 RAB3GAP2 NM_012414.4(RAB3GAP2):c.1600A>G (p.Thr534Ala) SNV Uncertain significance 295658 rs886046021 GRCh37: 1:220363750-220363750
GRCh38: 1:220190408-220190408
28 RAB3GAP2 NM_012414.4(RAB3GAP2):c.1277G>A (p.Arg426His) SNV Uncertain significance 295660 rs769450409 GRCh37: 1:220364620-220364620
GRCh38: 1:220191278-220191278
29 RAB3GAP2 NM_012414.4(RAB3GAP2):c.2454C>G (p.Ser818=) SNV Uncertain significance 295649 rs886046020 GRCh37: 1:220345354-220345354
GRCh38: 1:220172012-220172012
30 RAB3GAP2 NM_012414.4(RAB3GAP2):c.*2347T>C SNV Uncertain significance 295613 rs886046010 GRCh37: 1:220322246-220322246
GRCh38: 1:220148904-220148904
31 RAB3GAP2 NM_012414.4(RAB3GAP2):c.-86T>C SNV Uncertain significance 295676 rs535968000 GRCh37: 1:220445765-220445765
GRCh38: 1:220272423-220272423
32 RAB3GAP2 NM_012414.4(RAB3GAP2):c.2538T>G (p.Ser846=) SNV Uncertain significance 295647 rs368216093 GRCh37: 1:220345270-220345270
GRCh38: 1:220171928-220171928
33 RAB3GAP2 NM_012414.4(RAB3GAP2):c.1159G>A (p.Gly387Ser) SNV Uncertain significance 295662 rs886046023 GRCh37: 1:220366693-220366693
GRCh38: 1:220193351-220193351
34 RAB3GAP2 NM_012414.4(RAB3GAP2):c.3390G>A (p.Ala1130=) SNV Uncertain significance 295642 rs140377995 GRCh37: 1:220330777-220330777
GRCh38: 1:220157435-220157435
35 RAB3GAP2 NM_012414.4(RAB3GAP2):c.2290C>T (p.Leu764Phe) SNV Uncertain significance 235683 rs139337049 GRCh37: 1:220355619-220355619
GRCh38: 1:220182277-220182277
36 RAB3GAP2 NM_012414.4(RAB3GAP2):c.*537G>C SNV Uncertain significance 295634 rs886046015 GRCh37: 1:220324056-220324056
GRCh38: 1:220150714-220150714
37 RAB3GAP2 NM_012414.4(RAB3GAP2):c.2168T>A (p.Val723Glu) SNV Uncertain significance 295652 rs150643803 GRCh37: 1:220356104-220356104
GRCh38: 1:220182762-220182762
38 RAB3GAP2 NM_012414.4(RAB3GAP2):c.*2643T>C SNV Uncertain significance 295604 rs886046007 GRCh37: 1:220321950-220321950
GRCh38: 1:220148608-220148608
39 RAB3GAP2 NM_012414.4(RAB3GAP2):c.1419A>G (p.Gly473=) SNV Uncertain significance 295659 rs886046022 GRCh37: 1:220364478-220364478
GRCh38: 1:220191136-220191136
40 RAB3GAP2 NM_012414.4(RAB3GAP2):c.3868-8A>G SNV Uncertain significance 295639 rs886046018 GRCh37: 1:220325114-220325114
GRCh38: 1:220151772-220151772
41 RAB3GAP2 NM_012414.4(RAB3GAP2):c.1960T>C (p.Ser654Pro) SNV Uncertain significance 295655 rs147587414 GRCh37: 1:220357416-220357416
GRCh38: 1:220184074-220184074
42 RAB3GAP2 NM_012414.4(RAB3GAP2):c.2771G>A (p.Arg924Lys) SNV Uncertain significance 295646 rs758604254 GRCh37: 1:220344269-220344269
GRCh38: 1:220170927-220170927
43 RAB3GAP2 NM_012414.4(RAB3GAP2):c.*2102C>A SNV Uncertain significance 295617 rs149913096 GRCh37: 1:220322491-220322491
GRCh38: 1:220149149-220149149
44 RAB3GAP2 NM_012414.4(RAB3GAP2):c.2527G>A (p.Val843Ile) SNV Uncertain significance 295648 rs753147106 GRCh37: 1:220345281-220345281
GRCh38: 1:220171939-220171939
45 RAB3GAP2 NM_012414.4(RAB3GAP2):c.2027A>G (p.Glu676Gly) SNV Uncertain significance 295653 rs774771619 GRCh37: 1:220356245-220356245
GRCh38: 1:220182903-220182903
46 RAB3GAP2 NM_012414.4(RAB3GAP2):c.612+15T>C SNV Uncertain significance 295669 rs777576498 GRCh37: 1:220383715-220383715
GRCh38: 1:220210373-220210373
47 RAB3GAP2 NM_012414.4(RAB3GAP2):c.*1453T>G SNV Uncertain significance 295623 rs146743192 GRCh37: 1:220323140-220323140
GRCh38: 1:220149798-220149798
48 RAB3GAP2 NM_012414.4(RAB3GAP2):c.1891G>A (p.Gly631Arg) SNV Uncertain significance 295656 rs761157075 GRCh37: 1:220357485-220357485
GRCh38: 1:220184143-220184143
49 RAB3GAP2 NM_012414.4(RAB3GAP2):c.*1470G>A SNV Uncertain significance 295622 rs555263194 GRCh37: 1:220323123-220323123
GRCh38: 1:220149781-220149781
50 RAB3GAP2 NM_012414.4(RAB3GAP2):c.*2769G>T SNV Uncertain significance 295603 rs886046006 GRCh37: 1:220321824-220321824
GRCh38: 1:220148482-220148482

Expression for Warburg Micro Syndrome 2

Search GEO for disease gene expression data for Warburg Micro Syndrome 2.

Pathways for Warburg Micro Syndrome 2

Pathways related to Warburg Micro Syndrome 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.91 TBC1D20 TBC1D1 RAB3GAP2 RAB3GAP1 RAB3A RAB18
2
Show member pathways
12.46 RAB3D RAB3A RAB2A RAB18
3 11.91 RAB3D RAB3A RAB2A RAB18
4 11.21 RAB3GAP2 RAB3GAP1 RAB3A RAB18
5 10.78 RAB3GAP2 RAB3GAP1 RAB18
6 10.74 RAB3D RAB3A RAB2A RAB18

GO Terms for Warburg Micro Syndrome 2

Cellular components related to Warburg Micro Syndrome 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.81 TBC1D1 STK38L RAB3GAP2 RAB3GAP1 RAB3A RAB2A
2 terminal bouton GO:0043195 9.26 RAB3A PRNP
3 endoplasmic reticulum membrane GO:0005789 9.1 TBC1D20 RAB3GAP2 RAB3GAP1 RAB2A RAB18 HACD1
4 endoplasmic reticulum tubular network GO:0071782 8.96 RAB3GAP1 RAB18

Biological processes related to Warburg Micro Syndrome 2 according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.83 RAB3D RAB3A RAB2A RAB18
2 positive regulation of GTPase activity GO:0043547 9.55 TBC1D20 TBC1D1 RAB3GAP2 RAB3GAP1 AGFG1
3 protein secretion GO:0009306 9.54 RAB3D RAB3A
4 regulation of cilium assembly GO:1902017 9.51 TBC1D20 TBC1D1
5 regulation of exocytosis GO:0017157 9.49 RAB3D RAB3A
6 vesicle docking involved in exocytosis GO:0006904 9.48 RAB3D RAB3A
7 regulation of short-term neuronal synaptic plasticity GO:0048172 9.46 RAB3GAP1 RAB3A
8 positive regulation of autophagosome assembly GO:2000786 9.43 RAB3GAP2 RAB3GAP1
9 positive regulation of regulated secretory pathway GO:1903307 9.4 RAB3D RAB3A
10 positive regulation of endoplasmic reticulum tubular network organization GO:1903373 9.37 RAB3GAP2 RAB3GAP1
11 intracellular protein transport GO:0006886 9.35 TBC1D1 RAB3GAP2 RAB3D RAB3A RAB18
12 positive regulation of protein lipidation GO:1903061 9.32 RAB3GAP2 RAB3GAP1
13 establishment of protein localization to endoplasmic reticulum membrane GO:0097051 9.26 RAB3GAP2 RAB3GAP1
14 lipid droplet organization GO:0034389 8.8 TBC1D20 RAB3GAP1 RAB18

Molecular functions related to Warburg Micro Syndrome 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 GTP binding GO:0005525 9.62 RAB3D RAB3A RAB2A RAB18
2 GTPase activity GO:0003924 9.46 RAB3D RAB3A RAB2A RAB18
3 GTP-dependent protein binding GO:0030742 9.37 RAB3D RAB3A
4 myosin V binding GO:0031489 9.26 RAB3D RAB3A
5 small GTPase binding GO:0031267 9.26 TBC1D20 TBC1D1 RAB3GAP2 RAB3GAP1
6 GTPase activator activity GO:0005096 9.02 TBC1D20 TBC1D1 RAB3GAP2 RAB3GAP1 AGFG1

Sources for Warburg Micro Syndrome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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