WARBM2
MCID: WRB003
MIFTS: 21

Warburg Micro Syndrome 2 (WARBM2) malady

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

Aliases & Classifications for Warburg Micro Syndrome 2

Aliases & Descriptions for Warburg Micro Syndrome 2:

Name: Warburg Micro Syndrome 2 54 12 24 66 29 13 69
Micro Syndrome 2 12 66
Warbm2 12 66

Characteristics:

HPO:

32
warburg micro syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 614225
Disease Ontology 12 DOID:0110717
ICD10 33 Q87.0
MedGen 40 C3280214
MeSH 42 D000015

Summaries for Warburg Micro Syndrome 2

UniProtKB/Swiss-Prot : 66 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 macrotia, cataract and short nose. An important gene associated with Warburg Micro Syndrome 2 is RAB3GAP2 (RAB3 GTPase Activating Non-Catalytic Protein Subunit 2). Affiliated tissues include brain.

Disease Ontology : 12 A Warburg micro syndrome that has material basis in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB3GAP2 gene on chromosome 1q41.

Description from OMIM: 614225

Related Diseases for Warburg Micro Syndrome 2

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:

id Related Disease Score Top Affiliating Genes
1 warburg micro syndrome 1 10.9

Symptoms & Phenotypes for Warburg Micro Syndrome 2

Symptoms by clinical synopsis from OMIM:

614225

Clinical features from OMIM:

614225

Human phenotypes related to Warburg Micro Syndrome 2:

32 (show all 27)
id Description HPO Frequency HPO Source Accession
1 macrotia 32 HP:0000400
2 cataract 32 HP:0000518
3 short nose 32 HP:0003196
4 microcephaly 32 HP:0000252
5 optic atrophy 32 HP:0000648
6 flexion contracture 32 HP:0001371
7 brachycephaly 32 HP:0000248
8 intellectual disability, severe 32 HP:0010864
9 severe global developmental delay 32 HP:0011344
10 cryptorchidism 32 HP:0000028
11 postnatal growth retardation 32 HP:0008897
12 prominent nasal bridge 32 HP:0000426
13 microphthalmia 32 HP:0000568
14 low anterior hairline 32 HP:0000294
15 microcornea 32 HP:0000482
16 polymicrogyria 32 HP:0002126
17 scrotal hypoplasia 32 HP:0000046
18 hypoplastic labia majora 32 HP:0000059
19 hypoplasia of the corpus callosum 32 HP:0002079
20 micropenis 32 HP:0000054
21 congenital cataract 32 HP:0000519
22 muscular hypotonia of the trunk 32 HP:0008936
23 overlapping toe 32 HP:0001845
24 postnatal microcephaly 32 HP:0005484
25 global brain atrophy 32 HP:0002283
26 undetectable visual evoked potentials 32 HP:0007965
27 asymmetry of the ears 32 HP:0010722

Drugs & Therapeutics for Warburg Micro Syndrome 2

Search Clinical Trials , NIH Clinical Center for Warburg Micro Syndrome 2

Genetic Tests for Warburg Micro Syndrome 2

Genetic tests related to Warburg Micro Syndrome 2:

id Genetic test Affiliating Genes
1 Warburg Micro Syndrome 2 29 24 RAB3GAP2

Anatomical Context for Warburg Micro Syndrome 2

MalaCards organs/tissues related to Warburg Micro Syndrome 2:

39
Brain

Publications for Warburg Micro Syndrome 2

Variations for Warburg Micro Syndrome 2

ClinVar genetic disease variations for Warburg Micro Syndrome 2:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 RAB3GAP2 RAB3GAP2, 9-BP DEL, NT499 deletion Pathogenic
2 RAB3GAP2 NM_012414.3(RAB3GAP2): c.1434G> A (p.Trp478Ter) single nucleotide variant Pathogenic rs587777168 GRCh37 Chromosome 1, 220364463: 220364463
3 RAB3GAP2 NM_012414.3(RAB3GAP2): c.3637C> T (p.Arg1213Ter) single nucleotide variant Pathogenic rs587777169 GRCh37 Chromosome 1, 220327318: 220327318
4 RAB3GAP2 NM_012414.3(RAB3GAP2): c.3085G> T (p.Glu1029Ter) single nucleotide variant Pathogenic rs587777170 GRCh37 Chromosome 1, 220340637: 220340637
5 RAB3GAP2 NM_012414.3(RAB3GAP2): c.713-2A> G single nucleotide variant Likely pathogenic rs797045103 GRCh37 Chromosome 1, 220375718: 220375718

Expression for Warburg Micro Syndrome 2

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

Pathways for Warburg Micro Syndrome 2

GO Terms for Warburg Micro Syndrome 2

Sources for Warburg Micro Syndrome 2

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
46 NCI
47 NCIt
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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