MCID: WRB005
MIFTS: 18

Warburg Micro Syndrome 4 malady

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

Aliases & Classifications for Warburg Micro Syndrome 4

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Aliases & Descriptions for Warburg Micro Syndrome 4:

Name: Warburg Micro Syndrome 4 51 24 69 26 67
 
Warbm4 69

Characteristics:

HPO:

63
warburg micro syndrome 4:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 615663
MeSH38 D000015

Summaries for Warburg Micro Syndrome 4

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UniProtKB/Swiss-Prot:69 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 has symptoms including brachycephaly, hirsutism and seizures. An important gene associated with Warburg Micro Syndrome 4 is TBC1D20 (TBC1 Domain Family Member 20). Affiliated tissues include eye.

Description from OMIM:51 615663

Related Diseases for Warburg Micro Syndrome 4

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Diseases in the Warburg Micro Syndrome 1 family:

Warburg Micro Syndrome 2 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

Symptoms 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:

 63 (show all 27)
id Description HPO Frequency HPO Source Accession
1 brachycephaly63 rare (5%) HP:0000248
2 hirsutism63 rare (5%) HP:0001007
3 seizures63 rare (5%) HP:0001250
4 cryptorchidism63 HP:0000028
5 scrotal hypoplasia63 HP:0000046
6 micropenis63 HP:0000054
7 narrow mouth63 HP:0000160
8 low anterior hairline63 HP:0000294
9 wide nasal bridge63 HP:0000431
10 microcornea63 HP:0000482
11 deeply set eye63 HP:0000490
12 glaucoma63 HP:0000501
13 ptosis63 HP:0000508
14 congenital cataract63 HP:0000519
15 microphthalmia63 HP:0000568
16 optic atrophy63 HP:0000648
17 cerebellar atrophy63 HP:0001272
18 flexion contracture63 HP:0001371
19 hypoplasia of the corpus callosum63 HP:0002079
20 cerebral cortical atrophy63 HP:0002120
21 spastic tetraplegia63 HP:0002510
22 decreased muscle mass63 HP:0003199
23 postnatal microcephaly63 HP:0005484
24 frontoparietal polymicrogyria63 HP:0007095
25 decreased testicular size63 HP:0008734
26 severe postnatal growth retardation63 HP:0008850
27 intellectual disability, severe63 HP:0010864

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 426 24 TBC1D20

Anatomical Context for Warburg Micro Syndrome 4

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MalaCards organs/tissues related to Warburg Micro Syndrome 4:

35
Eye

Animal Models for Warburg Micro Syndrome 4 or affiliated genes

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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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Sources for Warburg Micro Syndrome 4

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet