WARBM3
MCID: WRB004
MIFTS: 21

Warburg Micro Syndrome 3 (WARBM3) 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 52 11 24 70 27 12 68
Micro Syndrome 3 11 70
 
Warbm3 11 70

Characteristics:

HPO:

64
warburg micro syndrome 3:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 614222
Disease Ontology11 DOID:0110718
ICD1030 Q87.0
MedGen37 C3280203
MeSH39 D000015

Summaries for Warburg Micro Syndrome 3

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UniProtKB/Swiss-Prot:70 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).

Disease Ontology:11 A Warburg micro syndrome that has material basis in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB18 gene on chromosome 10p12.

Description from OMIM:52 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 110.9

Symptoms & Phenotypes for Warburg Micro Syndrome 3

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Symptoms by clinical synopsis from OMIM:

614222

Clinical features from OMIM:

614222

Human phenotypes related to Warburg Micro Syndrome 3:

 64 (show all 33)
id Description HPO Frequency HPO Source Accession
1 scrotal hypoplasia64 HP:0000046
2 micropenis64 HP:0000054
3 narrow palate64 HP:0000189
4 brachycephaly64 HP:0000248
5 microcephaly64 HP:0000252
6 low anterior hairline64 HP:0000294
7 micrognathia64 HP:0000347
8 macrotia64 HP:0000400
9 microcornea64 HP:0000482
10 cataract64 HP:0000518
11 congenital cataract64 HP:0000519
12 microphthalmia64 HP:0000568
13 blepharophimosis64 HP:0000581
14 shallow anterior chamber64 HP:0000594
15 nystagmus64 HP:0000639
16 optic atrophy64 HP:0000648
17 seizures64 HP:0001250
18 flexion contracture64 HP:0001371
19 hypoplasia of the corpus callosum64 HP:0002079
20 ventriculomegaly64 HP:0002119
21 cerebral cortical atrophy64 HP:0002120
22 polymicrogyria64 HP:0002126
23 intellectual disability, profound64 HP:0002187
24 spastic tetraplegia64 HP:0002510
25 downturned corners of mouth64 HP:0002714
26 kyphoscoliosis64 HP:0002751
27 short nose64 HP:0003196
28 clinodactyly of the 5th finger64 HP:0004209
29 postnatal microcephaly64 HP:0005484
30 decreased testicular size64 HP:0008734
31 postnatal growth retardation64 HP:0008897
32 muscular hypotonia of the trunk64 HP:0008936
33 ankle clonus64 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 327 24 RAB18

Anatomical Context for Warburg Micro Syndrome 3

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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:

70
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)SNVPathogenicrs587777151GRCh37Chr 10, 27822688: 27822688
2RAB18NM_ 021252.4(RAB18): c.71T> A (p.Leu24Gln)SNVPathogenicrs387906832GRCh37Chr 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)SNVPathogenicrs387906833GRCh37Chr 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
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