MCID: WRB005
MIFTS: 37

Warburg Micro Syndrome 4

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

Aliases & Classifications for Warburg Micro Syndrome 4

MalaCards integrated aliases for Warburg Micro Syndrome 4:

Name: Warburg Micro Syndrome 4 53 12 71 28 14 69
Warbm4 53 12 71
Micro Syndrome 4 12

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

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


HPO:

31
warburg micro syndrome 4:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Warburg Micro Syndrome 4

OMIM : 53 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, 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 testes, 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.

UniProtKB/Swiss-Prot : 71 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

Diseases in the Warburg Micro Syndrome family:

Warburg Micro Syndrome 1 Warburg Micro Syndrome 3
Warburg Micro Syndrome 2 Warburg Micro Syndrome 4

Diseases related to Warburg Micro Syndrome 4 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 steroid-induced glaucoma 9.6 RAB3GAP1 RAB3GAP2
2 rab18 deficiency 9.6 RAB18 RAB3GAP1 TBC1D20
3 hypotrichosis 3 9.5 AGFG1 RAB1B
4 martsolf syndrome 9.5 RAB18 RAB3GAP1 RAB3GAP2
5 warburg micro syndrome 2 9.3 RAB18 RAB3GAP1 RAB3GAP2 TBC1D20
6 warburg micro syndrome 1 9.3 RAB18 RAB3GAP1 RAB3GAP2 TBC1D20
7 spastic diplegia 9.3 RAB18 RAB3GAP1 RAB3GAP2 TBC1D20
8 warburg micro syndrome 9.0 RAB18 RAB2A RAB3GAP1 RAB3GAP2 TBC1D20

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 via clinical synopsis from OMIM:

53
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

Human phenotypes related to Warburg Micro Syndrome 4:

31 (show all 27)
# Description HPO Frequency HPO Source Accession
1 seizures 31 occasional (7.5%) HP:0001250
2 ptosis 31 HP:0000508
3 wide nasal bridge 31 HP:0000431
4 optic atrophy 31 HP:0000648
5 flexion contracture 31 HP:0001371
6 decreased muscle mass 31 HP:0003199
7 brachycephaly 31 occasional (7.5%) HP:0000248
8 spastic tetraplegia 31 HP:0002510
9 intellectual disability, severe 31 HP:0010864
10 cryptorchidism 31 HP:0000028
11 cerebral cortical atrophy 31 HP:0002120
12 microphthalmia 31 HP:0000568
13 deeply set eye 31 HP:0000490
14 decreased testicular size 31 HP:0008734
15 glaucoma 31 HP:0000501
16 narrow mouth 31 HP:0000160
17 low anterior hairline 31 HP:0000294
18 microcornea 31 HP:0000482
19 cerebellar atrophy 31 HP:0001272
20 scrotal hypoplasia 31 HP:0000046
21 severe postnatal growth retardation 31 HP:0008850
22 hypoplasia of the corpus callosum 31 HP:0002079
23 micropenis 31 HP:0000054
24 postnatal microcephaly 31 HP:0005484
25 hirsutism 31 occasional (7.5%) HP:0001007
26 congenital cataract 31 HP:0000519
27 frontoparietal polymicrogyria 31 HP:0007095

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

25
# 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 28 TBC1D20

Anatomical Context for Warburg Micro Syndrome 4

MalaCards organs/tissues related to Warburg Micro Syndrome 4:

38
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.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:

# 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 14)
# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.71 RAB18 RAB1B RAB2A
2 ER to Golgi vesicle-mediated transport GO:0006888 9.63 RAB1B RAB2A TBC1D20
3 positive regulation of GTPase activity GO:0043547 9.62 AGFG1 RAB3GAP1 RAB3GAP2 TBC1D20
4 Golgi organization GO:0007030 9.52 RAB2A TBC1D20
5 regulation of GTPase activity GO:0043087 9.51 RAB3GAP1 RAB3GAP2
6 camera-type eye development GO:0043010 9.49 RAB3GAP1 TBC1D20
7 COPII vesicle coating GO:0048208 9.48 RAB1B TBC1D20
8 acrosome assembly GO:0001675 9.43 AGFG1 TBC1D20
9 positive regulation of autophagosome assembly GO:2000786 9.4 RAB3GAP1 RAB3GAP2
10 virion assembly GO:0019068 9.37 RAB1B TBC1D20
11 positive regulation of endoplasmic reticulum tubular network organization GO:1903373 9.26 RAB3GAP1 RAB3GAP2
12 positive regulation of protein lipidation GO:1903061 9.16 RAB3GAP1 RAB3GAP2
13 establishment of protein localization to endoplasmic reticulum membrane GO:0097051 8.96 RAB3GAP1 RAB3GAP2
14 lipid particle 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 9.54 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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