MCID: WRB003
MIFTS: 20

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 51 24 69 26 12 67
Micro Syndrome 2 69
 
Warbm2 69

Characteristics:

HPO:

63
warburg micro syndrome 2:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 614225
MedGen36 C3280214
MeSH38 D000015

Summaries for Warburg Micro Syndrome 2

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UniProtKB/Swiss-Prot:69 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 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:51 614225

Related Diseases for Warburg Micro Syndrome 2

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

idRelated DiseaseScoreTop Affiliating Genes
1warburg micro syndrome 110.9

Symptoms for Warburg Micro Syndrome 2

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Symptoms by clinical synopsis from OMIM:

614225

Clinical features from OMIM:

614225

Human phenotypes related to Warburg Micro Syndrome 2:

 63 (show all 27)
id Description HPO Frequency HPO Source Accession
1 cryptorchidism63 HP:0000028
2 scrotal hypoplasia63 HP:0000046
3 micropenis63 HP:0000054
4 hypoplastic labia majora63 HP:0000059
5 brachycephaly63 HP:0000248
6 microcephaly63 HP:0000252
7 low anterior hairline63 HP:0000294
8 macrotia63 HP:0000400
9 prominent nasal bridge63 HP:0000426
10 microcornea63 HP:0000482
11 cataract63 HP:0000518
12 congenital cataract63 HP:0000519
13 microphthalmia63 HP:0000568
14 optic atrophy63 HP:0000648
15 flexion contracture63 HP:0001371
16 overlapping toe63 HP:0001845
17 hypoplasia of the corpus callosum63 HP:0002079
18 polymicrogyria63 HP:0002126
19 global brain atrophy63 HP:0002283
20 short nose63 HP:0003196
21 postnatal microcephaly63 HP:0005484
22 undetectable visual evoked potentials63 HP:0007965
23 postnatal growth retardation63 HP:0008897
24 muscular hypotonia of the trunk63 HP:0008936
25 asymmetry of the ears63 HP:0010722
26 intellectual disability, severe63 HP:0010864
27 severe global developmental delay63 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 226 24 RAB3GAP2

Anatomical Context for Warburg Micro Syndrome 2

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MalaCards organs/tissues related to Warburg Micro Syndrome 2:

35
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)SNVPathogenicrs587777168GRCh37Chr 1, 220364463: 220364463
2RAB3GAP2NM_012414.3(RAB3GAP2): c.3637C> T (p.Arg1213Ter)SNVPathogenicrs587777169GRCh37Chr 1, 220327318: 220327318
3RAB3GAP2NM_012414.3(RAB3GAP2): c.3085G> T (p.Glu1029Ter)SNVPathogenicrs587777170GRCh37Chr 1, 220340637: 220340637
4RAB3GAP2NM_012414.3(RAB3GAP2): c.713-2A> GSNVLikely pathogenicrs797045103GRCh37Chr 1, 220375718: 220375718
5RAB3GAP2RAB3GAP2, 9-BP DEL, NT499deletionPathogenicChr na, -1: -1

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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet