MCID: WRB003
MIFTS: 23

Warburg Micro Syndrome 2 malady

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

Aliases & Classifications for Warburg Micro Syndrome 2

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Aliases & Descriptions for Warburg Micro Syndrome 2:

Name: Warburg Micro Syndrome 2 50 23 68 25 12 66
Micro Syndrome 2 68
 
Warbm2 68

Characteristics:

HPO:

62
warburg micro syndrome 2:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 614225
MedGen35 C3280214
MeSH37 D000015

Summaries for Warburg Micro Syndrome 2

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UniProtKB/Swiss-Prot:68 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 warburg micro syndrome 1 and martsolf syndrome, and has symptoms including cryptorchidism, scrotal hypoplasia and micropenis. An important gene associated with Warburg Micro Syndrome 2 is RAB3GAP2 (RAB3 GTPase Activating Non-Catalytic Protein Subunit 2). Affiliated tissues include brain.

Description from OMIM:50 614225

Related Diseases for Warburg Micro Syndrome 2

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

idRelated DiseaseScoreTop Affiliating Genes
1warburg micro syndrome 110.0
2martsolf syndrome9.5ABL1, RAB3GAP2
3warburg micro syndrome 29.2ABL1, RAB3GAP2

Symptoms for Warburg Micro Syndrome 2

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Symptoms by clinical synopsis from OMIM:

614225

Clinical features from OMIM:

614225

HPO human phenotypes related to Warburg Micro Syndrome 2:

(show all 27)
id Description Frequency HPO Source Accession
1 cryptorchidism HP:0000028
2 scrotal hypoplasia HP:0000046
3 micropenis HP:0000054
4 hypoplastic labia majora HP:0000059
5 brachycephaly HP:0000248
6 microcephaly HP:0000252
7 low anterior hairline HP:0000294
8 macrotia HP:0000400
9 prominent nasal bridge HP:0000426
10 microcornea HP:0000482
11 cataract HP:0000518
12 congenital cataract HP:0000519
13 microphthalmia HP:0000568
14 optic atrophy HP:0000648
15 flexion contracture HP:0001371
16 overlapping toe HP:0001845
17 hypoplasia of the corpus callosum HP:0002079
18 polymicrogyria HP:0002126
19 global brain atrophy HP:0002283
20 short nose HP:0003196
21 postnatal microcephaly HP:0005484
22 undetectable visual evoked potentials HP:0007965
23 postnatal growth retardation HP:0008897
24 muscular hypotonia of the trunk HP:0008936
25 asymmetry of the ears HP:0010722
26 intellectual disability, severe HP:0010864
27 severe global developmental delay HP:0011344

Drugs & Therapeutics for Warburg Micro Syndrome 2

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Warburg Micro Syndrome 2

Genetic Tests for Warburg Micro Syndrome 2

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Genetic tests related to Warburg Micro Syndrome 2:

id Genetic test Affiliating Genes
1 Warburg Micro Syndrome 225 23 RAB3GAP2

Anatomical Context for Warburg Micro Syndrome 2

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MalaCards organs/tissues related to Warburg Micro Syndrome 2:

34
Brain

Animal Models for Warburg Micro Syndrome 2 or affiliated genes

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Publications for Warburg Micro Syndrome 2

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Variations for Warburg Micro Syndrome 2

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Clinvar genetic disease variations for Warburg Micro Syndrome 2:

5
id Gene Variation Type Significance SNP ID Assembly Location
1RAB3GAP2NM_012414.3(RAB3GAP2): c.1434G> A (p.Trp478Ter)single nucleotide variantPathogenicrs587777168GRCh37Chr 1, 220364463: 220364463
2RAB3GAP2NM_012414.3(RAB3GAP2): c.3637C> T (p.Arg1213Ter)single nucleotide variantPathogenicrs587777169GRCh37Chr 1, 220327318: 220327318
3RAB3GAP2NM_012414.3(RAB3GAP2): c.3085G> T (p.Glu1029Ter)single nucleotide variantPathogenicrs587777170GRCh37Chr 1, 220340637: 220340637
4RAB3GAP2NM_012414.3(RAB3GAP2): c.713-2A> Gsingle nucleotide variantLikely pathogenicrs797045103GRCh37Chr 1, 220375718: 220375718
5RAB3GAP2RAB3GAP2, 9-BP DEL, NT499deletionPathogenic

Expression for genes affiliated with Warburg Micro Syndrome 2

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

Pathways for genes affiliated with Warburg Micro Syndrome 2

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GO Terms for genes affiliated with Warburg Micro Syndrome 2

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Sources for Warburg Micro Syndrome 2

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet