WARBM4
MCID: WRB005
MIFTS: 33

Warburg Micro Syndrome 4 (WARBM4) malady

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

Aliases & Classifications for Warburg Micro Syndrome 4

Aliases & Descriptions for Warburg Micro Syndrome 4:

Name: Warburg Micro Syndrome 4 54 12 24 66 29 14 69
Warbm4 12 66
Micro Syndrome 4 12

Characteristics:

HPO:

32
warburg micro syndrome 4:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 615663
Disease Ontology 12 DOID:0110719
ICD10 33 Q87.0
MeSH 42 D000015

Summaries for Warburg Micro Syndrome 4

UniProtKB/Swiss-Prot : 66 Warburg micro syndrome 4: A form of Warburg micro syndrome, 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 4, also known as warbm4, is related to warburg micro syndrome 1 and pseudofolliculitis barbae, and has symptoms including seizures, ptosis and wide nasal bridge. An important gene associated with Warburg Micro Syndrome 4 is TBC1D20 (TBC1 Domain Family Member 20), and among its related pathways/superpathways are Vesicle-mediated transport and Sertoli-Sertoli Cell Junction Dynamics. Affiliated tissues include eye, and related phenotype is Decreased Tat-dependent transcription.

Disease Ontology : 12 A Warburg micro syndrome that has material basis in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the TBC1D20 gene on chromosome 20p13.

Description from OMIM: 615663

Related Diseases for Warburg Micro Syndrome 4

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

id Related Disease Score Top Affiliating Genes
1 warburg micro syndrome 1 10.9
2 pseudofolliculitis barbae 9.8 AGFG1 RAB1B
3 warburg micro syndrome 2 9.7 RAB18 RAB3GAP1 RAB3GAP2
4 spastic monoplegia 9.6 RAB18 RAB3GAP1 RAB3GAP2 TBC1D20
5 asthma 9.5 RAB18 RAB2A RAB3GAP1 RAB3GAP2 TBC1D20
6 synpolydactyly 9.4 RAB18 RAB2A RAB3GAP1 RAB3GAP2 TBC1D20
7 neurodegeneration with brain iron accumulation 1 8.9 AGFG1 RAB18 RAB1B RAB2A RAB3GAP1 RAB3GAP2

Graphical network of the top 20 diseases related to Warburg Micro Syndrome 4:



Diseases related to Warburg Micro Syndrome 4

Symptoms & Phenotypes for Warburg Micro Syndrome 4

Symptoms by clinical synopsis from OMIM:

615663

Clinical features from OMIM:

615663

Human phenotypes related to Warburg Micro Syndrome 4:

32 (show all 27)
id Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 ptosis 32 HP:0000508
3 wide nasal bridge 32 HP:0000431
4 optic atrophy 32 HP:0000648
5 flexion contracture 32 HP:0001371
6 decreased muscle mass 32 HP:0003199
7 brachycephaly 32 HP:0000248
8 spastic tetraplegia 32 HP:0002510
9 intellectual disability, severe 32 HP:0010864
10 cryptorchidism 32 HP:0000028
11 cerebral cortical atrophy 32 HP:0002120
12 microphthalmia 32 HP:0000568
13 deeply set eye 32 HP:0000490
14 decreased testicular size 32 HP:0008734
15 glaucoma 32 HP:0000501
16 narrow mouth 32 HP:0000160
17 low anterior hairline 32 HP:0000294
18 microcornea 32 HP:0000482
19 cerebellar atrophy 32 HP:0001272
20 scrotal hypoplasia 32 HP:0000046
21 severe postnatal growth retardation 32 HP:0008850
22 hypoplasia of the corpus callosum 32 HP:0002079
23 micropenis 32 HP:0000054
24 hirsutism 32 HP:0001007
25 congenital cataract 32 HP:0000519
26 postnatal microcephaly 32 HP:0005484
27 frontoparietal polymicrogyria 32 HP:0007095

GenomeRNAi Phenotypes related to Warburg Micro Syndrome 4 according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased Tat-dependent transcription GR00163-A-2 8.62 RAB1B RAB2A

Drugs & Therapeutics for Warburg Micro Syndrome 4

Search Clinical Trials , NIH Clinical Center for Warburg Micro Syndrome 4

Genetic Tests for Warburg Micro Syndrome 4

Genetic tests related to Warburg Micro Syndrome 4:

id Genetic test Affiliating Genes
1 Warburg Micro Syndrome 4 29 24 TBC1D20

Anatomical Context for Warburg Micro Syndrome 4

MalaCards organs/tissues related to Warburg Micro Syndrome 4:

39
Eye

Publications for Warburg Micro Syndrome 4

Variations for Warburg Micro Syndrome 4

ClinVar genetic disease variations for Warburg Micro Syndrome 4:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 TBC1D20 NM_144628.3(TBC1D20): c.199C> T (p.Arg67Ter) single nucleotide variant Pathogenic rs587777157 GRCh37 Chromosome 20, 428590: 428590
2 TBC1D20 NM_144628.3(TBC1D20): c.292C> T (p.Gln98Ter) single nucleotide variant Pathogenic rs587777158 GRCh37 Chromosome 20, 425739: 425739
3 TBC1D20 NM_144628.3(TBC1D20): c.352_353delCA (p.Gln118Glufs) deletion Pathogenic rs587777159 GRCh37 Chromosome 20, 422672: 422673
4 TBC1D20 NM_144628.3(TBC1D20): c.672G> A (p.Trp224Ter) single nucleotide variant Pathogenic rs587777160 GRCh37 Chromosome 20, 420988: 420988
5 TBC1D20 NM_144628.2(TBC1D20): c.71-?_*1+?del deletion Pathogenic GRCh38 Chromosome 20, 435480: 448074

Expression for Warburg Micro Syndrome 4

Search GEO for disease gene expression data for Warburg Micro Syndrome 4.

Pathways for Warburg Micro Syndrome 4

GO Terms for Warburg Micro Syndrome 4

Cellular components related to Warburg Micro Syndrome 4 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.73 AGFG1 RAB18 RAB1B RAB2A RAB3GAP1 RAB3GAP2
2 endoplasmic reticulum tubular network GO:0071782 9.16 RAB18 RAB3GAP1
3 endoplasmic reticulum-Golgi intermediate compartment membrane GO:0033116 9.13 RAB1B RAB2A TBC1D20
4 endoplasmic reticulum membrane GO:0005789 9.1 RAB18 RAB1B RAB2A RAB3GAP1 RAB3GAP2 TBC1D20

Biological processes related to Warburg Micro Syndrome 4 according to GeneCards Suite gene sharing:

(show all 16)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of GTPase activity GO:0043547 9.78 AGFG1 RAB3GAP1 RAB3GAP2 TBC1D20
2 protein transport GO:0015031 9.73 RAB18 RAB1B RAB2A
3 small GTPase mediated signal transduction GO:0007264 9.67 RAB18 RAB1B RAB2A
4 ER to Golgi vesicle-mediated transport GO:0006888 9.63 RAB1B RAB2A TBC1D20
5 regulation of GTPase activity GO:0043087 9.55 RAB3GAP1 RAB3GAP2
6 Golgi organization GO:0007030 9.54 RAB2A TBC1D20
7 camera-type eye development GO:0043010 9.52 RAB3GAP1 TBC1D20
8 COPII vesicle coating GO:0048208 9.51 RAB1B TBC1D20
9 acrosome assembly GO:0001675 9.43 AGFG1 TBC1D20
10 virion assembly GO:0019068 9.4 RAB1B TBC1D20
11 positive regulation of autophagosome assembly GO:2000786 9.37 RAB3GAP1 RAB3GAP2
12 positive regulation of protein lipidation GO:1903061 9.32 RAB3GAP1 RAB3GAP2
13 establishment of protein localization to endoplasmic reticulum membrane GO:0097051 9.26 RAB3GAP1 RAB3GAP2
14 positive regulation of endoplasmic reticulum tubular network organization GO:1903373 9.16 RAB3GAP1 RAB3GAP2
15 lipid particle organization GO:0034389 9.13 RAB18 RAB3GAP1 TBC1D20
16 membrane organization GO:0061024 9.02 AGFG1 RAB18 RAB3GAP1 RAB3GAP2 TBC1D20

Molecular functions related to Warburg Micro Syndrome 4 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 GTP binding GO:0005525 9.54 RAB18 RAB1B RAB2A
2 GTPase activity GO:0003924 9.33 RAB18 RAB1B RAB2A
3 GDP binding GO:0019003 9.32 RAB18 RAB2A
4 Rab guanyl-nucleotide exchange factor activity GO:0017112 9.26 RAB3GAP1 RAB3GAP2
5 Rab GTPase binding GO:0017137 9.13 RAB3GAP1 RAB3GAP2 TBC1D20
6 GTPase activator activity GO:0005096 8.92 AGFG1 RAB3GAP1 RAB3GAP2 TBC1D20

Sources for Warburg Micro Syndrome 4

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
Content
Loading form....