WARBM1
MCID: WRB002
MIFTS: 39

Warburg Micro Syndrome 1 (WARBM1) malady

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

Aliases & Classifications for Warburg Micro Syndrome 1

Aliases & Descriptions for Warburg Micro Syndrome 1:

Name: Warburg Micro Syndrome 1 54 12 24 66 29 13 14
Warbm1 12 66
Warburg Sjo Fledelius Syndrome 69
Micro Syndrome 1 12
Micro Syndrome 66

Characteristics:

HPO:

32
warburg micro syndrome 1:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 600118
Disease Ontology 12 DOID:0110716
ICD10 33 Q87.0
MedGen 40 C1838625
MeSH 42 D000015

Summaries for Warburg Micro Syndrome 1

OMIM : 54 Warburg Micro syndrome is a rare autosomal recessive syndrome characterized by microcephaly, microphthalmia,... (600118) more...

MalaCards based summary : Warburg Micro Syndrome 1, also known as warbm1, is related to warburg micro syndrome 2 and warburg micro syndrome 4, and has symptoms including seizures, joint stiffness and agenesis of corpus callosum. An important gene associated with Warburg Micro Syndrome 1 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 kidney.

Disease Ontology : 12 A Warburg micro syndrome that has material basis in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB3GAP1 gene on chromosome 2q21.

UniProtKB/Swiss-Prot : 66 Warburg micro syndrome 1: 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.

Related Diseases for Warburg Micro Syndrome 1

Diseases in the Warburg Micro Syndrome family:

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

Diseases related to Warburg Micro Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 warburg micro syndrome 2 33.1 RAB18 RAB3GAP1 RAB3GAP2
2 warburg micro syndrome 4 12.2
3 warburg micro syndrome 3 12.2
4 warburg micro syndrome 10.0
5 polyneuropathy 9.8
6 neuronitis 9.8
7 spastic monoplegia 9.6 RAB18 RAB3GAP1 RAB3GAP2 TBC1D20
8 neurodegeneration with brain iron accumulation 1 9.5 RAB18 RAB2A RAB3GAP1 RAB3GAP2 TBC1D20
9 synpolydactyly 9.3 CRYBB3 RAB18 RAB2A RAB3GAP1 RAB3GAP2 TBC1D20
10 asthma 8.8 CRYBB3 RAB18 RAB2A RAB3GAP1 RAB3GAP2 RABGAP1

Graphical network of the top 20 diseases related to Warburg Micro Syndrome 1:



Diseases related to Warburg Micro Syndrome 1

Symptoms & Phenotypes for Warburg Micro Syndrome 1

Symptoms by clinical synopsis from OMIM:

600118

Clinical features from OMIM:

600118

Human phenotypes related to Warburg Micro Syndrome 1:

32 (show top 50) (show all 58)
id Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 joint stiffness 32 HP:0001387
3 agenesis of corpus callosum 32 HP:0001274
4 high palate 32 HP:0000218
5 ptosis 32 HP:0000508
6 intellectual disability 32 HP:0001249
7 muscular hypotonia 32 HP:0001252
8 spasticity 32 HP:0001257
9 hyperreflexia 32 HP:0001347
10 failure to thrive 32 HP:0001508
11 scoliosis 32 HP:0002650
12 kyphosis 32 HP:0002808
13 macrotia 32 HP:0000400
14 cataract 32 HP:0000518
15 global developmental delay 32 HP:0001263
16 wide nasal bridge 32 HP:0000431
17 short nose 32 HP:0003196
18 microcephaly 32 HP:0000252
19 anteverted nares 32 HP:0000463
20 optic atrophy 32 HP:0000648
21 short stature 32 HP:0004322
22 abnormality of retinal pigmentation 32 HP:0007703
23 abnormality of visual evoked potentials 32 HP:0000649
24 delayed puberty 32 HP:0000823
25 osteoporosis 32 HP:0000939
26 intellectual disability, severe 32 HP:0010864
27 micrognathia 32 HP:0000347
28 peripheral neuropathy 32 HP:0009830
29 generalized hirsutism 32 HP:0002230
30 cryptorchidism 32 HP:0000028
31 cerebral cortical atrophy 32 HP:0002120
32 cerebellar hypoplasia 32 HP:0001321
33 short philtrum 32 HP:0000322
34 microphthalmia 32 HP:0000568
35 intrauterine growth retardation 32 HP:0001511
36 deeply set eye 32 HP:0000490
37 low-set, posteriorly rotated ears 32 HP:0000368
38 joint hypermobility 32 HP:0001382
39 hypoplasia of penis 32 HP:0008736
40 microcornea 32 HP:0000482
41 hydronephrosis 32 HP:0000126
42 pachygyria 32 HP:0001302
43 abnormal localization of kidney 32 HP:0100542
44 aplasia/hypoplasia of the corpus callosum 32 HP:0007370
45 lissencephaly 32 HP:0001339
46 hypoplasia of the corpus callosum 32 HP:0002079
47 kyphoscoliosis 32 HP:0002751
48 cerebral atrophy 32 HP:0002059
49 spastic diplegia 32 HP:0001264
50 cerebellar vermis hypoplasia 32 HP:0001320

Drugs & Therapeutics for Warburg Micro Syndrome 1

Search Clinical Trials , NIH Clinical Center for Warburg Micro Syndrome 1

Genetic Tests for Warburg Micro Syndrome 1

Genetic tests related to Warburg Micro Syndrome 1:

id Genetic test Affiliating Genes
1 Warburg Micro Syndrome 1 29 24 RAB3GAP1

Anatomical Context for Warburg Micro Syndrome 1

MalaCards organs/tissues related to Warburg Micro Syndrome 1:

39
Eye, Kidney

Publications for Warburg Micro Syndrome 1

Articles related to Warburg Micro Syndrome 1:

id Title Authors Year
1
A RAB3GAP1 SINE Insertion in Alaskan Huskies with Polyneuropathy, Ocular Abnormalities, and Neuronal Vacuolation (POANV) Resembling Human Warburg Micro Syndrome 1 (WARBM1). ( 26596647 )
2015
2
Large homozygous RAB3GAP1 gene microdeletion causes Warburg Micro Syndrome 1. ( 25332050 )
2014

Variations for Warburg Micro Syndrome 1

ClinVar genetic disease variations for Warburg Micro Syndrome 1:

6 (show all 15)
id Gene Variation Type Significance SNP ID Assembly Location
1 RAB3GAP1 NM_012233.2(RAB3GAP1): c.2801delC (p.Pro934Leufs) deletion Pathogenic rs730882182 GRCh37 Chromosome 2, 135926206: 135926206
2 RAB3GAP1 NM_012233.2(RAB3GAP1): c.649-2A> G single nucleotide variant Pathogenic rs730882183 GRCh37 Chromosome 2, 135878387: 135878387
3 RAB3GAP1 NM_001172435.1(RAB3GAP1): c.748+1G> A single nucleotide variant Pathogenic rs587776651 GRCh37 Chromosome 2, 135878489: 135878489
4 RAB3GAP1 NM_001172435.1(RAB3GAP1): c.2011C> T (p.Arg671Ter) single nucleotide variant Pathogenic rs137853052 GRCh37 Chromosome 2, 135908026: 135908026
5 RAB3GAP1 NM_001172435.1(RAB3GAP1): c.1734G> A (p.Trp578Ter) single nucleotide variant Pathogenic rs137853053 GRCh37 Chromosome 2, 135893313: 135893313
6 RAB3GAP1 NM_001172435.1(RAB3GAP1): c.1410C> A (p.Tyr470Ter) single nucleotide variant Pathogenic rs267606996 GRCh37 Chromosome 2, 135891514: 135891514
7 RAB3GAP1 NM_012233.2(RAB3GAP1): c.264_270delAAAGGATinsTTATTA (p.Lys89Tyrfs) indel Pathogenic rs730882184 GRCh37 Chromosome 2, 135848681: 135848687
8 RAB3GAP1 NM_001172435.1(RAB3GAP1): c.52A> C (p.Thr18Pro) single nucleotide variant Pathogenic rs587777154 GRCh37 Chromosome 2, 135810033: 135810033
9 RAB3GAP1 NM_001172435.1(RAB3GAP1): c.899+1G> A single nucleotide variant Pathogenic rs587777152 GRCh37 Chromosome 2, 135883820: 135883820
10 RAB3GAP1 NM_001172435.1(RAB3GAP1): c.2037_2055dup19 (p.Phe686Alafs) duplication Pathogenic rs587777153 GRCh37 Chromosome 2, 135908052: 135908070
11 RAB3GAP1 NM_001172435.1(RAB3GAP1): c.71A> T (p.Glu24Val) single nucleotide variant Pathogenic rs587777155 GRCh37 Chromosome 2, 135810052: 135810052
12 RAB3GAP1 NM_001172435.1(RAB3GAP1): c.2343_2347delACCTT (p.Pro782Cysfs) deletion Pathogenic rs794727324 GRCh37 Chromosome 2, 135920178: 135920182
13 RAB3GAP1 NM_012233.2(RAB3GAP1): c.2642T> G (p.Leu881Ter) single nucleotide variant Pathogenic rs797045905 GRCh37 Chromosome 2, 135922199: 135922199
14 RAB3GAP1 NM_001172435.1(RAB3GAP1): c.612delC (p.Leu205Tyrfs) deletion Pathogenic rs886043201 GRCh37 Chromosome 2, 135872915: 135872915
15 RAB3GAP1 NM_001172435.1(RAB3GAP1): c.475_478delACTG (p.Thr159Alafs) deletion Pathogenic rs886043202 GRCh37 Chromosome 2, 135870833: 135870836

Expression for Warburg Micro Syndrome 1

Search GEO for disease gene expression data for Warburg Micro Syndrome 1.

Pathways for Warburg Micro Syndrome 1

GO Terms for Warburg Micro Syndrome 1

Cellular components related to Warburg Micro Syndrome 1 according to GeneCards Suite gene sharing:

id 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 1 according to GeneCards Suite gene sharing:

(show all 14)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of GTPase activity GO:0043547 9.76 RAB3GAP1 RAB3GAP2 RABGAP1 TBC1D20
2 intracellular protein transport GO:0006886 9.65 RAB3GAP2 RABGAP1 TBC1D1
3 regulation of GTPase activity GO:0043087 9.58 RAB3GAP1 RAB3GAP2 RABGAP1
4 activation of GTPase activity GO:0090630 9.54 RABGAP1 TBC1D1
5 Golgi organization GO:0007030 9.52 RAB2A TBC1D20
6 camera-type eye development GO:0043010 9.51 RAB3GAP1 TBC1D20
7 regulation of vesicle fusion GO:0031338 9.49 RABGAP1 TBC1D1
8 positive regulation of autophagosome assembly GO:2000786 9.43 RAB3GAP1 RAB3GAP2
9 regulation of cilium assembly GO:1902017 9.43 RABGAP1 TBC1D1 TBC1D20
10 positive regulation of protein lipidation GO:1903061 9.37 RAB3GAP1 RAB3GAP2
11 establishment of protein localization to endoplasmic reticulum membrane GO:0097051 9.32 RAB3GAP1 RAB3GAP2
12 positive regulation of endoplasmic reticulum tubular network organization GO:1903373 9.16 RAB3GAP1 RAB3GAP2
13 lipid particle organization GO:0034389 9.13 RAB18 RAB3GAP1 TBC1D20
14 membrane organization GO:0061024 9.1 RAB18 RAB3GAP1 RAB3GAP2 RABGAP1 TBC1D1 TBC1D20

Molecular functions related to Warburg Micro Syndrome 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 GTPase activator activity GO:0005096 9.35 RAB3GAP1 RAB3GAP2 RABGAP1 TBC1D1 TBC1D20
2 GDP binding GO:0019003 9.26 RAB18 RAB2A
3 Rab guanyl-nucleotide exchange factor activity GO:0017112 9.16 RAB3GAP1 RAB3GAP2
4 Rab GTPase binding GO:0017137 9.02 RAB3GAP1 RAB3GAP2 RABGAP1 TBC1D1 TBC1D20

Sources for Warburg Micro Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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