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

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Summaries for Warburg Micro Syndrome 4

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UniProtKB/Swiss-Prot:70 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 cryptorchidism, scrotal hypoplasia and micropenis. An important gene associated with Warburg Micro Syndrome 4 is TBC1D20 (TBC1 Domain Family Member 20), and among its related pathways are COPI-independent Golgi-to-ER retrograde traffic and RAB geranylgeranylation. Affiliated tissues include eye, and related mouse phenotype Decreased Tat-dependent transcription.

Disease Ontology:11 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:52 615663

Related Diseases for Warburg Micro Syndrome 4

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

idRelated DiseaseScoreTop Affiliating Genes
1warburg micro syndrome 110.9
2pseudofolliculitis barbae9.8AGFG1, RAB1B
3warburg micro syndrome 29.7RAB18, RAB3GAP1, RAB3GAP2
4spastic monoplegia9.6RAB18, RAB3GAP1, RAB3GAP2, TBC1D20
5asthma9.5RAB18, RAB2A, RAB3GAP1, RAB3GAP2, TBC1D20
6synpolydactyly9.4RAB18, RAB2A, RAB3GAP1, RAB3GAP2, TBC1D20
7neurodegeneration with brain iron accumulation 18.9AGFG1, RAB18, RAB1B, RAB2A, RAB3GAP1, RAB3GAP2

Graphical network of diseases related to Warburg Micro Syndrome 4:



Diseases related to warburg micro syndrome 4

Symptoms & Phenotypes for Warburg Micro Syndrome 4

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Symptoms by clinical synopsis from OMIM:

615663

Clinical features from OMIM:

615663

Human phenotypes related to Warburg Micro Syndrome 4:

 64 (show all 27)
id Description HPO Frequency HPO Source Accession
1 cryptorchidism64 HP:0000028
2 scrotal hypoplasia64 HP:0000046
3 micropenis64 HP:0000054
4 narrow mouth64 HP:0000160
5 brachycephaly64 HP:0000248
6 low anterior hairline64 HP:0000294
7 wide nasal bridge64 HP:0000431
8 microcornea64 HP:0000482
9 deeply set eye64 HP:0000490
10 glaucoma64 HP:0000501
11 ptosis64 HP:0000508
12 congenital cataract64 HP:0000519
13 microphthalmia64 HP:0000568
14 optic atrophy64 HP:0000648
15 hirsutism64 HP:0001007
16 seizures64 HP:0001250
17 cerebellar atrophy64 HP:0001272
18 flexion contracture64 HP:0001371
19 hypoplasia of the corpus callosum64 HP:0002079
20 cerebral cortical atrophy64 HP:0002120
21 spastic tetraplegia64 HP:0002510
22 decreased muscle mass64 HP:0003199
23 postnatal microcephaly64 HP:0005484
24 frontoparietal polymicrogyria64 HP:0007095
25 decreased testicular size64 HP:0008734
26 severe postnatal growth retardation64 HP:0008850
27 intellectual disability, severe64 HP:0010864

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00163-A-29.0RAB1B, RAB2A

Drugs & Therapeutics for Warburg Micro Syndrome 4

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Warburg Micro Syndrome 4

Genetic Tests for Warburg Micro Syndrome 4

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Genetic tests related to Warburg Micro Syndrome 4:

id Genetic test Affiliating Genes
1 Warburg Micro Syndrome 427 24 TBC1D20

Anatomical Context for Warburg Micro Syndrome 4

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MalaCards organs/tissues related to Warburg Micro Syndrome 4:

36
Eye

Publications for Warburg Micro Syndrome 4

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Variations for Warburg Micro Syndrome 4

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Clinvar genetic disease variations for Warburg Micro Syndrome 4:

5
id Gene Variation Type Significance SNP ID Assembly Location
1TBC1D20NM_ 144628.3(TBC1D20): c.199C> T (p.Arg67Ter)SNVPathogenicrs587777157GRCh37Chr 20, 428590: 428590
2TBC1D20NM_ 144628.3(TBC1D20): c.292C> T (p.Gln98Ter)SNVPathogenicrs587777158GRCh37Chr 20, 425739: 425739
3TBC1D20NM_ 144628.3(TBC1D20): c.352_ 353delCA (p.Gln118Glufs)deletionPathogenicrs587777159GRCh37Chr 20, 422672: 422673
4TBC1D20NM_ 144628.3(TBC1D20): c.672G> A (p.Trp224Ter)SNVPathogenicrs587777160GRCh37Chr 20, 420988: 420988
5TBC1D20NM_ 144628.2(TBC1D20): c.71-?_ *1+?deldeletionPathogenicGRCh38Chr 20, 435480: 448074

Expression for genes affiliated with Warburg Micro Syndrome 4

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

Pathways for genes affiliated with Warburg Micro Syndrome 4

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GO Terms for genes affiliated with Warburg Micro Syndrome 4

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

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum tubular networkGO:007178210.0RAB18, RAB3GAP1
2endoplasmic reticulum-Golgi intermediate compartment membraneGO:00331168.7RAB1B, RAB2A, TBC1D20
3cytosolGO:00058297.8AGFG1, RAB18, RAB1B, RAB2A, RAB3GAP1, RAB3GAP2
4endoplasmic reticulum membraneGO:00057897.8RAB18, RAB1B, RAB2A, RAB3GAP1, RAB3GAP2, TBC1D20

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1acrosome assemblyGO:000167510.3AGFG1, TBC1D20
2camera-type eye developmentGO:004301010.3RAB3GAP1, TBC1D20
3establishment of protein localization to endoplasmic reticulum membraneGO:009705110.3RAB3GAP1, RAB3GAP2
4positive regulation of autophagosome assemblyGO:200078610.3RAB3GAP1, RAB3GAP2
5positive regulation of endoplasmic reticulum tubular network organizationGO:190337310.3RAB3GAP1, RAB3GAP2
6positive regulation of protein lipidationGO:190306110.2RAB3GAP1, RAB3GAP2
7Golgi organizationGO:000703010.2RAB2A, TBC1D20
8regulation of GTPase activityGO:004308710.2RAB3GAP1, RAB3GAP2
9COPII vesicle coatingGO:004820810.0RAB1B, TBC1D20
10lipid particle organizationGO:00343899.9RAB18, RAB3GAP1, TBC1D20
11ER to Golgi vesicle-mediated transportGO:00068889.4RAB1B, RAB2A, TBC1D20
12positive regulation of GTPase activityGO:00435479.3AGFG1, RAB3GAP1, RAB3GAP2, TBC1D20
13virion assemblyGO:00190689.3RAB1B, TBC1D20
14protein transportGO:00150319.2RAB18, RAB1B, RAB2A
15membrane organizationGO:00610248.9AGFG1, RAB18, RAB3GAP1, RAB3GAP2, TBC1D20
16small GTPase mediated signal transductionGO:00072648.8RAB18, RAB1B, RAB2A

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

idNameGO IDScoreTop Affiliating Genes
1GDP bindingGO:001900310.1RAB18, RAB2A
2Rab GTPase bindingGO:00171379.6RAB3GAP1, RAB3GAP2, TBC1D20
3Rab guanyl-nucleotide exchange factor activityGO:00171129.5RAB3GAP1, RAB3GAP2
4GTPase activator activityGO:00050969.3AGFG1, RAB3GAP1, RAB3GAP2, TBC1D20
5GTP bindingGO:00055259.3RAB18, RAB1B, RAB2A
6GTPase activityGO:00039249.2RAB18, RAB1B, RAB2A

Sources for Warburg Micro Syndrome 4

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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