MCID: WRB002
MIFTS: 37

Warburg Micro Syndrome 1 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 24 70 27 12
Warburg Micro Syndrome 11 48 27 13
Micro Syndrome 11 71 48 70
Warburg Sjo Fledelius Syndrome 39 68
 
Warbm 11 48
Microcephaly, Microcornea, Congenital Cataract, Mental Retardation, Optic Atrophy and Hypogenitalism 48
Warburg-Sjo-Fledelius Syndrome 11
Warbm1 70

Characteristics:

HPO:

64
warburg micro syndrome 1:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 600118
Disease Ontology11 DOID:0060237
MedGen37 C1838625

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 warburg micro syndrome, is related to warburg micro syndrome 4 and warburg micro syndrome 2, and has symptoms including joint hypermobility, overlapping toe and cryptorchidism. An important gene associated with Warburg Micro Syndrome 1 is RAB3GAP1 (RAB3 GTPase Activating Protein Catalytic Subunit 1), and among its related pathways are COPI-independent Golgi-to-ER retrograde traffic and Golgi-to-ER retrograde transport. Affiliated tissues include eye.

Disease Ontology:11 An autosomal recessive disease characterized by severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis or hypoplasia of the corpus callosum and hypogenitalism.

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.

Wikipedia:71 Micro syndrome also known as WARBM, and Warburg–Sjo–Fledelius syndrome, is a rare autosomal... more...

Related Diseases for Warburg Micro Syndrome 1

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Diseases in the Warburg Micro Syndrome 1 family:

Warburg Micro Syndrome 2 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:

idRelated DiseaseScoreTop Affiliating Genes
1warburg micro syndrome 412.4
2warburg micro syndrome 212.4
3warburg micro syndrome 312.4
4cataract10.3
5microcephaly10.3
6polyneuropathy9.8
7neuronitis9.8
8martsolf syndrome9.5RAB18, RAB3GAP1, RAB3GAP2
9spastic hemiplegia8.7RAB18, RAB3GAP1, RAB3GAP2, TBC1D20
10uv-sensitive syndrome8.2CRYBB3, RAB18, RAB3GAP1, RAB3GAP2, TBC1D20

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 26)
id Description HPO Frequency HPO Source Accession
1 joint hypermobility64 rare (5%) HP:0001382
2 overlapping toe64 rare (5%) HP:0001845
3 cryptorchidism64 HP:0000028
4 microcephaly64 HP:0000252
5 micrognathia64 HP:0000347
6 macrotia64 HP:0000400
7 microcornea64 HP:0000482
8 deeply set eye64 HP:0000490
9 ptosis64 HP:0000508
10 congenital cataract64 HP:0000519
11 microphthalmia64 HP:0000568
12 optic atrophy64 HP:0000648
13 osteoporosis64 HP:0000939
14 intellectual disability64 HP:0001249
15 muscular hypotonia64 HP:0001252
16 spastic diplegia64 HP:0001264
17 agenesis of corpus callosum64 HP:0001274
18 cerebellar hypoplasia64 HP:0001321
19 hyperreflexia64 HP:0001347
20 failure to thrive64 HP:0001508
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

Drugs & Therapeutics for Warburg Micro Syndrome 1

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Warburg Micro Syndrome 1


Cochrane evidence based reviews: warburg sjo fledelius syndrome

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 Syndrome27
2 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
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

Copy number variations for Warburg Micro Syndrome 1 from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
11369092134800000136600000Copy numberRAB3GAPWarburg Micro syndrome

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

idSuper pathwaysScoreTop Affiliating Genes
19.1RAB18, RAB3GAP1, RAB3GAP2
2
Show member pathways
9.1RAB18, RAB3GAP1, RAB3GAP2
3
Show member pathways
8.5RAB18, RAB3GAP1, RAB3GAP2, TBC1D20

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:007178210.0RAB18, RAB3GAP1
2endoplasmic reticulum-Golgi intermediate compartment membraneGO:00331169.3RAB2A, TBC1D20
3endoplasmic reticulum membraneGO:00057898.4RAB18, RAB2A, RAB3GAP1, RAB3GAP2, TBC1D20

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1establishment of protein localization to endoplasmic reticulum membraneGO:009705110.3RAB3GAP1, RAB3GAP2
2positive regulation of autophagosome assemblyGO:200078610.3RAB3GAP1, RAB3GAP2
3positive regulation of endoplasmic reticulum tubular network organizationGO:190337310.3RAB3GAP1, RAB3GAP2
4camera-type eye developmentGO:004301010.1RAB3GAP1, TBC1D20
5positive regulation of protein lipidationGO:190306110.1RAB3GAP1, RAB3GAP2
6ER to Golgi vesicle-mediated transportGO:000688810.0RAB2A, TBC1D20
7Golgi organizationGO:000703010.0RAB2A, TBC1D20
8regulation of GTPase activityGO:00430879.6RAB3GAP1, RAB3GAP2
9lipid particle organizationGO:00343899.6RAB18, RAB3GAP1, TBC1D20
10positive regulation of GTPase activityGO:00435479.5RAB3GAP1, RAB3GAP2, 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:00171129.6RAB3GAP1, RAB3GAP2
3GTPase activator activityGO:00050969.6RAB3GAP1, RAB3GAP2, TBC1D20
4Rab GTPase bindingGO:00171379.4RAB3GAP1, RAB3GAP2, 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