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

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Aliases & Descriptions for Warburg Micro Syndrome 1:

Name: Warburg Micro Syndrome 1 52 11 24 70 27 12 13
Warbm1 11 70
Warburg Sjo Fledelius Syndrome 68
 
Micro Syndrome 1 11
Micro Syndrome 70

Characteristics:

HPO:

64
warburg micro syndrome 1:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 600118
Disease Ontology11 DOID:0110716
ICD1030 Q87.0
MedGen37 C1838625
MeSH39 D000015

Summaries for Warburg Micro Syndrome 1

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OMIM:52 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 cryptorchidism, microcephaly and micrognathia. An important gene associated with Warburg Micro Syndrome 1 is RAB3GAP1 (RAB3 GTPase Activating Protein Catalytic Subunit 1), and among its related pathways are TBC/RABGAPs and RAB geranylgeranylation. Affiliated tissues include kidney and eye.

Disease Ontology:11 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:70 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

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Graphical network of diseases related to Warburg Micro Syndrome 1:



Diseases related to warburg micro syndrome 1

Symptoms & Phenotypes for Warburg Micro Syndrome 1

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Symptoms by clinical synopsis from OMIM:

600118

Clinical features from OMIM:

600118

Human phenotypes related to Warburg Micro Syndrome 1:

 64 (show all 58)
id Description HPO Frequency HPO Source Accession
1 cryptorchidism64 HP:0000028
2 microcephaly64 HP:0000252
3 micrognathia64 HP:0000347
4 macrotia64 HP:0000400
5 microcornea64 HP:0000482
6 deeply set eye64 HP:0000490
7 ptosis64 HP:0000508
8 congenital cataract64 HP:0000519
9 microphthalmia64 HP:0000568
10 optic atrophy64 HP:0000648
11 osteoporosis64 HP:0000939
12 intellectual disability64 HP:0001249
13 muscular hypotonia64 HP:0001252
14 spastic diplegia64 HP:0001264
15 agenesis of corpus callosum64 HP:0001274
16 cerebellar hypoplasia64 HP:0001321
17 hyperreflexia64 HP:0001347
18 joint hypermobility64 HP:0001382
19 failure to thrive64 HP:0001508
20 overlapping toe64 HP:0001845
21 cerebral atrophy64 HP:0002059
22 hypoplasia of the corpus callosum64 HP:0002079
23 facial hypertrichosis64 HP:0002219
24 kyphoscoliosis64 HP:0002751
25 external genital hypoplasia64 HP:0003241
26 short stature64 HP:0004322
27 clitoral hypoplasia64 HP:0000060
28 hypoplastic labia minora64 HP:0000064
29 hydronephrosis64 HP:0000126
30 high palate64 HP:0000218
31 short philtrum64 HP:0000322
32 low-set, posteriorly rotated ears64 HP:0000368
33 wide nasal bridge64 HP:0000431
34 anteverted nares64 HP:0000463
35 retinal coloboma64 HP:0000480
36 cataract64 HP:0000518
37 abnormality of visual evoked potentials64 HP:0000649
38 delayed puberty64 HP:0000823
39 seizures64 HP:0001250
40 spasticity64 HP:0001257
41 global developmental delay64 HP:0001263
42 pachygyria64 HP:0001302
43 cerebellar vermis hypoplasia64 HP:0001320
44 lissencephaly64 HP:0001339
45 joint stiffness64 HP:0001387
46 intrauterine growth retardation64 HP:0001511
47 cerebral cortical atrophy64 HP:0002120
48 generalized hirsutism64 HP:0002230
49 scoliosis64 HP:0002650
50 kyphosis64 HP:0002808
51 short nose64 HP:0003196
52 aplasia/hypoplasia of the corpus callosum64 HP:0007370
53 abnormality of retinal pigmentation64 HP:0007703
54 hypoplasia of penis64 HP:0008736
55 peripheral neuropathy64 HP:0009830
56 intellectual disability, severe64 HP:0010864
57 abnormal localization of kidney64 HP:0100542
58 cortical visual impairment64 HP:0100704

Drugs & Therapeutics for Warburg Micro Syndrome 1

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Warburg Micro Syndrome 1

Genetic Tests for Warburg Micro Syndrome 1

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Genetic tests related to Warburg Micro Syndrome 1:

id Genetic test Affiliating Genes
1 Warburg Micro Syndrome 127 24 RAB3GAP1

Anatomical Context for Warburg Micro Syndrome 1

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MalaCards organs/tissues related to Warburg Micro Syndrome 1:

36
Kidney, Eye

Publications for Warburg Micro Syndrome 1

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Articles related to Warburg Micro Syndrome 1:

idTitleAuthorsYear
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

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Clinvar genetic disease variations for Warburg Micro Syndrome 1:

5 (show all 15)
id Gene Variation Type Significance SNP ID Assembly Location
1RAB3GAP1NM_ 001172435.1(RAB3GAP1): c.899+1G> ASNVPathogenicrs587777152GRCh37Chr 2, 135883820: 135883820
2RAB3GAP1NM_ 001172435.1(RAB3GAP1): c.2037_ 2055dup19 (p.Phe686Alafs)duplicationPathogenicrs587777153GRCh37Chr 2, 135908052: 135908070
3RAB3GAP1NM_ 001172435.1(RAB3GAP1): c.52A> C (p.Thr18Pro)SNVPathogenicrs587777154GRCh37Chr 2, 135810033: 135810033
4RAB3GAP1NM_ 001172435.1(RAB3GAP1): c.71A> T (p.Glu24Val)SNVPathogenicrs587777155GRCh37Chr 2, 135810052: 135810052
5RAB3GAP1NM_ 001172435.1(RAB3GAP1): c.2343_ 2347delACCTT (p.Pro782Cysfs)deletionPathogenicrs794727324GRCh37Chr 2, 135920178: 135920182
6RAB3GAP1NM_ 012233.2(RAB3GAP1): c.2642T> G (p.Leu881Ter)SNVPathogenicrs797045905GRCh37Chr 2, 135922199: 135922199
7RAB3GAP1NM_ 001172435.1(RAB3GAP1): c.612delC (p.Leu205Tyrfs)deletionPathogenicrs886043201GRCh37Chr 2, 135872915: 135872915
8RAB3GAP1NM_ 001172435.1(RAB3GAP1): c.475_ 478delACTG (p.Thr159Alafs)deletionPathogenicrs886043202GRCh37Chr 2, 135870833: 135870836
9RAB3GAP1NM_ 012233.2(RAB3GAP1): c.2801delC (p.Pro934Leufs)deletionPathogenicrs730882182GRCh37Chr 2, 135926206: 135926206
10RAB3GAP1NM_ 012233.2(RAB3GAP1): c.649-2A> GSNVPathogenicrs730882183GRCh37Chr 2, 135878387: 135878387
11RAB3GAP1NM_ 001172435.1(RAB3GAP1): c.748+1G> ASNVPathogenicrs587776651GRCh37Chr 2, 135878489: 135878489
12RAB3GAP1NM_ 001172435.1(RAB3GAP1): c.2011C> T (p.Arg671Ter)SNVPathogenicrs137853052GRCh37Chr 2, 135908026: 135908026
13RAB3GAP1NM_ 001172435.1(RAB3GAP1): c.1734G> A (p.Trp578Ter)SNVPathogenicrs137853053GRCh37Chr 2, 135893313: 135893313
14RAB3GAP1NM_ 001172435.1(RAB3GAP1): c.1410C> A (p.Tyr470Ter)SNVPathogenicrs267606996GRCh37Chr 2, 135891514: 135891514
15RAB3GAP1NM_ 012233.2(RAB3GAP1): c.264_ 270delAAAGGATinsTTATTA (p.Lys89Tyrfs)indelPathogenicrs730882184GRCh37Chr 2, 135848681: 135848687

Expression for genes affiliated with Warburg Micro Syndrome 1

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

Pathways for genes affiliated with Warburg Micro Syndrome 1

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GO Terms for genes affiliated with Warburg Micro Syndrome 1

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

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum tubular networkGO:007178210.2RAB18, RAB3GAP1
2endoplasmic reticulum-Golgi intermediate compartment membraneGO:00331169.6RAB2A, TBC1D20
3endoplasmic reticulum membraneGO:00057898.9RAB18, RAB2A, RAB3GAP1, RAB3GAP2, TBC1D20

Biological processes related to Warburg Micro Syndrome 1 according to GeneCards Suite gene sharing:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1camera-type eye developmentGO:004301010.5RAB3GAP1, TBC1D20
2establishment of protein localization to endoplasmic reticulum membraneGO:009705110.4RAB3GAP1, RAB3GAP2
3positive regulation of autophagosome assemblyGO:200078610.4RAB3GAP1, RAB3GAP2
4positive regulation of endoplasmic reticulum tubular network organizationGO:190337310.4RAB3GAP1, RAB3GAP2
5Golgi organizationGO:000703010.3RAB2A, TBC1D20
6positive regulation of protein lipidationGO:190306110.3RAB3GAP1, RAB3GAP2
7lipid particle organizationGO:003438910.0RAB18, RAB3GAP1, TBC1D20
8activation of GTPase activityGO:00906309.9RABGAP1, TBC1D1
9regulation of GTPase activityGO:00430879.7RAB3GAP1, RAB3GAP2, RABGAP1
10intracellular protein transportGO:00068869.4RAB3GAP2, RABGAP1, TBC1D1
11positive regulation of GTPase activityGO:00435479.4RAB3GAP1, RAB3GAP2, RABGAP1, TBC1D20
12regulation of cilium assemblyGO:19020179.3RABGAP1, TBC1D1, TBC1D20
13regulation of vesicle fusionGO:00313389.1RABGAP1, TBC1D1
14membrane organizationGO:00610248.2RAB18, RAB3GAP1, RAB3GAP2, RABGAP1, TBC1D1, TBC1D20

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

idNameGO IDScoreTop Affiliating Genes
1GDP bindingGO:001900310.1RAB18, RAB2A
2Rab guanyl-nucleotide exchange factor activityGO:00171129.7RAB3GAP1, RAB3GAP2
3GTPase activator activityGO:00050968.6RAB3GAP1, RAB3GAP2, RABGAP1, TBC1D1, TBC1D20
4Rab GTPase bindingGO:00171378.5RAB3GAP1, RAB3GAP2, RABGAP1, TBC1D1, TBC1D20

Sources for Warburg Micro Syndrome 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet