WARBM4
MCID: WRB005
MIFTS: 37

Warburg Micro Syndrome 4 (WARBM4)

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

Aliases & Classifications for Warburg Micro Syndrome 4

MalaCards integrated aliases for Warburg Micro Syndrome 4:

Name: Warburg Micro Syndrome 4 58 12 76 30 6 15 74
Warbm4 58 12 76
Warburg Micro Syndrome, Type 4 41
Micro Syndrome 4 12

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
congenital hypotonia from 8 to 12 months, then progressive spasticity resulting in contractures and spastic quadriplegia


HPO:

33
warburg micro syndrome 4:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Warburg Micro Syndrome 4

OMIM : 58 Warburg Micro syndrome is a rare autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism (summary by Morris-Rosendahl et al., 2010). For a discussion of genetic heterogeneity of Warburg Micro syndrome, see 600118. (615663)

MalaCards based summary : Warburg Micro Syndrome 4, also known as warbm4, is related to steroid-induced glaucoma and rab18 deficiency. 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 testes, and related phenotypes are seizures and brachycephaly

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.

UniProtKB/Swiss-Prot : 76 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.

Related Diseases for Warburg Micro Syndrome 4

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

Human phenotypes related to Warburg Micro Syndrome 4:

33 (show all 27)
# Description HPO Frequency HPO Source Accession
1 seizures 33 occasional (7.5%) HP:0001250
2 brachycephaly 33 occasional (7.5%) HP:0000248
3 hirsutism 33 occasional (7.5%) HP:0001007
4 ptosis 33 HP:0000508
5 wide nasal bridge 33 HP:0000431
6 optic atrophy 33 HP:0000648
7 flexion contracture 33 HP:0001371
8 decreased muscle mass 33 HP:0003199
9 spastic tetraplegia 33 HP:0002510
10 intellectual disability, severe 33 HP:0010864
11 cryptorchidism 33 HP:0000028
12 cerebral cortical atrophy 33 HP:0002120
13 microphthalmia 33 HP:0000568
14 deeply set eye 33 HP:0000490
15 decreased testicular size 33 HP:0008734
16 glaucoma 33 HP:0000501
17 narrow mouth 33 HP:0000160
18 low anterior hairline 33 HP:0000294
19 microcornea 33 HP:0000482
20 cerebellar atrophy 33 HP:0001272
21 micropenis 33 HP:0000054
22 hypoplasia of the corpus callosum 33 HP:0002079
23 scrotal hypoplasia 33 HP:0000046
24 severe postnatal growth retardation 33 HP:0008850
25 postnatal microcephaly 33 HP:0005484
26 developmental cataract 33 HP:0000519
27 frontoparietal polymicrogyria 33 HP:0007095

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
ptosis
microphthalmia
glaucoma
microcornea
deep-set eyes
more
Muscle Soft Tissue:
decreased muscle mass

Head And Neck Mouth:
narrow mouth

Skin Nails Hair Hair:
low anterior hairline
hirsutism (rare)

Head And Neck Head:
postnatal microcephaly
brachycephaly (in some patients)

Neurologic Central Nervous System:
hypoplastic corpus callosum
cortical atrophy
seizures (in some patients)
spastic quadriplegia
mental retardation, severe to profound
more
Skeletal Limbs:
contractures

Head And Neck Nose:
wide nasal bridge
prominent subnasal region

Genitourinary Internal Genitalia Male:
cryptorchidism
small testes

Head And Neck Face:
low anterior hairline

Growth Height:
severe postnatal growth retardation

Skeletal Skull:
postnatal microcephaly

Genitourinary External Genitalia Male:
hypoplastic scrotum
small penis

Neurologic Behavioral Psychiatric Manifestations:
autistic features (in some patients)

Clinical features from OMIM:

615663

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

27
# 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:

# Genetic test Affiliating Genes
1 Warburg Micro Syndrome 4 30 TBC1D20

Anatomical Context for Warburg Micro Syndrome 4

MalaCards organs/tissues related to Warburg Micro Syndrome 4:

42
Eye, Testes

Publications for Warburg Micro Syndrome 4

Variations for Warburg Micro Syndrome 4

ClinVar genetic disease variations for Warburg Micro Syndrome 4:

6
# 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.199C> T (p.Arg67Ter) single nucleotide variant Pathogenic rs587777157 GRCh38 Chromosome 20, 447946: 447946
3 TBC1D20 NM_144628.3(TBC1D20): c.292C> T (p.Gln98Ter) single nucleotide variant Pathogenic rs587777158 GRCh37 Chromosome 20, 425739: 425739
4 TBC1D20 NM_144628.3(TBC1D20): c.292C> T (p.Gln98Ter) single nucleotide variant Pathogenic rs587777158 GRCh38 Chromosome 20, 445095: 445095
5 TBC1D20 NM_144628.3(TBC1D20): c.352_353delCA (p.Gln118Glufs) deletion Pathogenic rs587777159 GRCh37 Chromosome 20, 422672: 422673
6 TBC1D20 NM_144628.3(TBC1D20): c.352_353delCA (p.Gln118Glufs) deletion Pathogenic rs587777159 GRCh38 Chromosome 20, 442028: 442029
7 TBC1D20 NM_144628.3(TBC1D20): c.672G> A (p.Trp224Ter) single nucleotide variant Pathogenic rs587777160 GRCh37 Chromosome 20, 420988: 420988
8 TBC1D20 NM_144628.3(TBC1D20): c.672G> A (p.Trp224Ter) single nucleotide variant Pathogenic rs587777160 GRCh38 Chromosome 20, 440344: 440344
9 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:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.8 AGFG1 RAB18 RAB1B RAB2A RAB3GAP1 RAB3GAP2
2 Golgi apparatus GO:0005794 9.56 RAB18 RAB1B RAB2A RAB3GAP1
3 endoplasmic reticulum tubular network GO:0071782 9.16 RAB18 RAB3GAP1
4 endoplasmic reticulum-Golgi intermediate compartment membrane GO:0033116 9.13 RAB1B RAB2A TBC1D20
5 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)
# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.73 RAB18 RAB1B RAB2A
2 intracellular protein transport GO:0006886 9.71 RAB18 RAB1B RAB2A RAB3GAP2
3 ER to Golgi vesicle-mediated transport GO:0006888 9.67 RAB1B RAB2A TBC1D20
4 positive regulation of GTPase activity GO:0043547 9.67 AGFG1 RAB3GAP1 RAB3GAP2 TBC1D20
5 Golgi organization GO:0007030 9.55 RAB2A TBC1D20
6 regulation of GTPase activity GO:0043087 9.54 RAB3GAP1 RAB3GAP2
7 camera-type eye development GO:0043010 9.52 RAB3GAP1 TBC1D20
8 COPII vesicle coating GO:0048208 9.51 RAB1B TBC1D20
9 Rab protein signal transduction GO:0032482 9.5 RAB18 RAB1B RAB2A
10 acrosome assembly GO:0001675 9.48 AGFG1 TBC1D20
11 positive regulation of autophagosome assembly GO:2000786 9.46 RAB3GAP1 RAB3GAP2
12 virion assembly GO:0019068 9.43 RAB1B TBC1D20
13 positive regulation of endoplasmic reticulum tubular network organization GO:1903373 9.26 RAB3GAP1 RAB3GAP2
14 positive regulation of protein lipidation GO:1903061 9.16 RAB3GAP1 RAB3GAP2
15 establishment of protein localization to endoplasmic reticulum membrane GO:0097051 8.96 RAB3GAP1 RAB3GAP2
16 lipid droplet organization GO:0034389 8.8 RAB18 RAB3GAP1 TBC1D20

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

# Name GO ID Score Top Affiliating Genes
1 GTP binding GO:0005525 9.5 RAB18 RAB1B RAB2A
2 GDP binding GO:0019003 9.37 RAB18 RAB2A
3 GTPase activity GO:0003924 9.33 RAB18 RAB1B 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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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