MCID: WRB003
MIFTS: 33

Warburg Micro Syndrome 2

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

Aliases & Classifications for Warburg Micro Syndrome 2

Summaries for Warburg Micro Syndrome 2

UniProtKB/Swiss-Prot : 71 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 steroid-induced glaucoma and rab18 deficiency, and has symptoms including macrotia, cataract and short nose. 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 Golgi-to-ER retrograde transport. Affiliated tissues include brain.

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.

Description from OMIM: 614225

Related Diseases for Warburg Micro Syndrome 2

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 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 steroid-induced glaucoma 9.6 RAB3GAP1 RAB3GAP2
2 rab18 deficiency 9.1 RAB18 RAB3GAP1 TBC1D20
3 martsolf syndrome 9.1 RAB18 RAB3GAP1 RAB3GAP2
4 warburg micro syndrome 1 8.9 RAB18 RAB3GAP1 RAB3GAP2 TBC1D20
5 warburg micro syndrome 4 8.8 RAB18 RAB3GAP1 RAB3GAP2 TBC1D20
6 spastic diplegia 8.8 RAB18 RAB3GAP1 RAB3GAP2 TBC1D20
7 warburg micro syndrome 8.8 RAB18 RAB3GAP1 RAB3GAP2 TBC1D20

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

Symptoms via clinical synopsis from OMIM:

53
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 Face:
low anterior hairline

Genitourinary External Genitalia Male:
scrotal hypoplasia
micropenis

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

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

Skeletal Skull:
microcephaly, postnatal

Skeletal Feet:
overlapping toes

Genitourinary External Genitalia Female:
hypoplasia of labia majora


Clinical features from OMIM:

614225

Human phenotypes related to Warburg Micro Syndrome 2:

31 (show all 27)
# Description HPO Frequency HPO Source Accession
1 macrotia 31 HP:0000400
2 cataract 31 HP:0000518
3 short nose 31 HP:0003196
4 microcephaly 31 HP:0000252
5 optic atrophy 31 HP:0000648
6 flexion contracture 31 HP:0001371
7 brachycephaly 31 HP:0000248
8 intellectual disability, severe 31 HP:0010864
9 severe global developmental delay 31 HP:0011344
10 cryptorchidism 31 HP:0000028
11 postnatal growth retardation 31 HP:0008897
12 prominent nasal bridge 31 HP:0000426
13 microphthalmia 31 HP:0000568
14 low anterior hairline 31 HP:0000294
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 micropenis 31 HP:0000054
21 postnatal microcephaly 31 HP:0005484
22 congenital cataract 31 HP:0000519
23 muscular hypotonia of the trunk 31 HP:0008936
24 overlapping toe 31 HP:0001845
25 global brain atrophy 31 HP:0002283
26 undetectable visual evoked potentials 31 HP:0007965
27 asymmetry of the ears 31 HP:0010722

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 28 RAB3GAP2

Anatomical Context for Warburg Micro Syndrome 2

MalaCards organs/tissues related to Warburg Micro Syndrome 2:

38
Brain

Publications for Warburg Micro Syndrome 2

Variations for Warburg Micro Syndrome 2

ClinVar genetic disease variations for Warburg Micro Syndrome 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RAB3GAP2 NM_012414.3(RAB3GAP2): c.499_507delTTCTACACT (p.Phe167_Thr169del) deletion Pathogenic GRCh37 Chromosome 1, 220384146: 220384154
2 RAB3GAP2 NM_012414.3(RAB3GAP2): c.1434G> A (p.Trp478Ter) single nucleotide variant Pathogenic rs587777168 GRCh37 Chromosome 1, 220364463: 220364463
3 RAB3GAP2 NM_012414.3(RAB3GAP2): c.3637C> T (p.Arg1213Ter) single nucleotide variant Pathogenic rs587777169 GRCh37 Chromosome 1, 220327318: 220327318
4 RAB3GAP2 NM_012414.3(RAB3GAP2): c.3085G> T (p.Glu1029Ter) single nucleotide variant Pathogenic rs587777170 GRCh37 Chromosome 1, 220340637: 220340637
5 RAB3GAP2 NM_012414.3(RAB3GAP2): c.713-2A> G single nucleotide variant Likely pathogenic rs797045103 GRCh37 Chromosome 1, 220375718: 220375718
6 RAB3GAP2 NM_012414.3(RAB3GAP2): c.2207dup (p.Leu737Phefs) duplication Pathogenic GRCh37 Chromosome 1, 220356065: 220356065

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
12.56 RAB18 RAB3GAP1 RAB3GAP2 TBC1D20
2
Show member pathways
12.05 RAB18 RAB3GAP1 RAB3GAP2
3 11.09 RAB18 RAB3GAP1 RAB3GAP2
4 10.25 RAB18 RAB3GAP1 RAB3GAP2

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 endoplasmic reticulum membrane GO:0005789 9.26 RAB18 RAB3GAP1 RAB3GAP2 TBC1D20
2 endoplasmic reticulum tubular network GO:0071782 8.62 RAB18 RAB3GAP1

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of GTPase activity GO:0043547 9.54 RAB3GAP1 RAB3GAP2 TBC1D20
2 brain development GO:0007420 9.46 RAB18 RAB3GAP1
3 regulation of GTPase activity GO:0043087 9.43 RAB3GAP1 RAB3GAP2
4 camera-type eye development GO:0043010 9.4 RAB3GAP1 TBC1D20
5 positive regulation of autophagosome assembly GO:2000786 9.32 RAB3GAP1 RAB3GAP2
6 positive regulation of endoplasmic reticulum tubular network organization GO:1903373 9.26 RAB3GAP1 RAB3GAP2
7 positive regulation of protein lipidation GO:1903061 9.16 RAB3GAP1 RAB3GAP2
8 establishment of protein localization to endoplasmic reticulum membrane GO:0097051 8.96 RAB3GAP1 RAB3GAP2
9 lipid particle organization GO:0034389 8.8 RAB18 RAB3GAP1 TBC1D20

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

# Name GO ID Score Top Affiliating Genes
1 Rab guanyl-nucleotide exchange factor activity GO:0017112 9.16 RAB3GAP1 RAB3GAP2
2 GTPase activator activity GO:0005096 9.13 RAB3GAP1 RAB3GAP2 TBC1D20
3 Rab GTPase binding GO:0017137 8.8 RAB3GAP1 RAB3GAP2 TBC1D20

Sources for Warburg Micro Syndrome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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