WARBM4
MCID: WRB005
MIFTS: 38

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 57 12 75 29 6 15 73
Warbm4 57 12 75
Warburg Micro Syndrome, Type 4 40
Micro Syndrome 4 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
warburg micro syndrome 4:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Warburg Micro Syndrome 4

OMIM : 57 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 ptosis and seizures

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 : 75 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

Symptoms via clinical synopsis from OMIM:

57
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:

32 (show all 27)
# Description HPO Frequency HPO Source Accession
1 ptosis 32 HP:0000508
2 seizures 32 occasional (7.5%) HP:0001250
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 occasional (7.5%) 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 micropenis 32 HP:0000054
21 hypoplasia of the corpus callosum 32 HP:0002079
22 scrotal hypoplasia 32 HP:0000046
23 severe postnatal growth retardation 32 HP:0008850
24 postnatal microcephaly 32 HP:0005484
25 hirsutism 32 occasional (7.5%) HP:0001007
26 congenital cataract 32 HP:0000519
27 frontoparietal polymicrogyria 32 HP:0007095

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

26
# 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 29 TBC1D20

Anatomical Context for Warburg Micro Syndrome 4

MalaCards organs/tissues related to Warburg Micro Syndrome 4:

41
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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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