MCID: WRB004
MIFTS: 20

Warburg Micro Syndrome 3 malady

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

Aliases & Classifications for Warburg Micro Syndrome 3

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Aliases & Descriptions for Warburg Micro Syndrome 3:

Name: Warburg Micro Syndrome 3 50 23 68 25 12 66
Micro Syndrome 3 68
 
Warbm3 68

Characteristics:

HPO:

62
warburg micro syndrome 3:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 614222
MedGen35 C3280203
MeSH37 D000015

Summaries for Warburg Micro Syndrome 3

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UniProtKB/Swiss-Prot:68 Warburg micro syndrome 3: 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 3, also known as micro syndrome 3, is related to warburg micro syndrome 1, and has symptoms including seizures, seizures and scrotal hypoplasia. An important gene associated with Warburg Micro Syndrome 3 is RAB18 (RAB18, Member RAS Oncogene Family).

Description from OMIM:50 614222

Related Diseases for Warburg Micro Syndrome 3

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Diseases in the Warburg Micro Syndrome family:

Warburg Micro Syndrome 2 Warburg Micro Syndrome 1
warburg micro syndrome 3 Warburg Micro Syndrome 4

Diseases related to Warburg Micro Syndrome 3 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1warburg micro syndrome 110.0

Symptoms for Warburg Micro Syndrome 3

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Symptoms by clinical synopsis from OMIM:

614222

Clinical features from OMIM:

614222

HPO human phenotypes related to Warburg Micro Syndrome 3:

(show all 32)
id Description Frequency HPO Source Accession
1 scrotal hypoplasia HP:0000046
2 micropenis HP:0000054
3 narrow palate HP:0000189
4 brachycephaly HP:0000248
5 microcephaly HP:0000252
6 low anterior hairline HP:0000294
7 micrognathia HP:0000347
8 macrotia HP:0000400
9 microcornea HP:0000482
10 cataract HP:0000518
11 microphthalmia HP:0000568
12 blepharophimosis HP:0000581
13 shallow anterior chamber HP:0000594
14 nystagmus HP:0000639
15 optic atrophy HP:0000648
16 seizures HP:0001250
17 flexion contracture HP:0001371
18 hypoplasia of the corpus callosum HP:0002079
19 ventriculomegaly HP:0002119
20 cerebral cortical atrophy HP:0002120
21 polymicrogyria HP:0002126
22 intellectual disability, profound HP:0002187
23 spastic tetraplegia HP:0002510
24 downturned corners of mouth HP:0002714
25 kyphoscoliosis HP:0002751
26 short nose HP:0003196
27 clinodactyly of the 5th finger HP:0004209
28 postnatal microcephaly HP:0005484
29 decreased testicular size HP:0008734
30 postnatal growth retardation HP:0008897
31 muscular hypotonia of the trunk HP:0008936
32 ankle clonus HP:0011448

UMLS symptoms related to Warburg Micro Syndrome 3:


seizures

Drugs & Therapeutics for Warburg Micro Syndrome 3

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Warburg Micro Syndrome 3

Genetic Tests for Warburg Micro Syndrome 3

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Genetic tests related to Warburg Micro Syndrome 3:

id Genetic test Affiliating Genes
1 Warburg Micro Syndrome 325 23 RAB18

Anatomical Context for Warburg Micro Syndrome 3

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Animal Models for Warburg Micro Syndrome 3 or affiliated genes

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Publications for Warburg Micro Syndrome 3

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Variations for Warburg Micro Syndrome 3

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UniProtKB/Swiss-Prot genetic disease variations for Warburg Micro Syndrome 3:

68
id Symbol AA change Variation ID SNP ID
1RAB18p.Leu24GlnVAR_066495rs387906832

Clinvar genetic disease variations for Warburg Micro Syndrome 3:

5
id Gene Variation Type Significance SNP ID Assembly Location
1RAB18NM_021252.4(RAB18): c.284C> G (p.Thr95Arg)single nucleotide variantPathogenicrs587777151GRCh37Chr 10, 27822688: 27822688
2RAB18NM_021252.4(RAB18): c.71T> A (p.Leu24Gln)single nucleotide variantPathogenicrs387906832GRCh37Chr 10, 27798806: 27798806
3RAB18RAB18, EX2DELdeletionPathogenic
4RAB18NM_021252.4(RAB18): c.277_279delAGA (p.Arg93del)deletionPathogenicrs587776875GRCh37Chr 10, 27822681: 27822683
5RAB18NM_021252.4(RAB18): c.619T> C (p.Ter207Gln)single nucleotide variantPathogenicrs387906833GRCh37Chr 10, 27826978: 27826978

Expression for genes affiliated with Warburg Micro Syndrome 3

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Search GEO for disease gene expression data for Warburg Micro Syndrome 3.

Pathways for genes affiliated with Warburg Micro Syndrome 3

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GO Terms for genes affiliated with Warburg Micro Syndrome 3

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Sources for Warburg Micro Syndrome 3

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet