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 52 24 70 27 68
 
Warbm4 70

Characteristics:

HPO:

64
warburg micro syndrome 4:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 615663
MeSH39 D000015

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 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:52 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 & 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 brachycephaly64 rare (5%) HP:0000248
2 hirsutism64 rare (5%) HP:0001007
3 seizures64 rare (5%) HP:0001250
4 cryptorchidism64 HP:0000028
5 scrotal hypoplasia64 HP:0000046
6 micropenis64 HP:0000054
7 narrow mouth64 HP:0000160
8 low anterior hairline64 HP:0000294
9 wide nasal bridge64 HP:0000431
10 microcornea64 HP:0000482
11 deeply set eye64 HP:0000490
12 glaucoma64 HP:0000501
13 ptosis64 HP:0000508
14 congenital cataract64 HP:0000519
15 microphthalmia64 HP:0000568
16 optic atrophy64 HP:0000648
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

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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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