MCID: WRB002
MIFTS: 26

Warburg Micro Syndrome 1 malady

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

Aliases & Classifications for Warburg Micro Syndrome 1

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Aliases & Descriptions for Warburg Micro Syndrome 1:

Name: Warburg Micro Syndrome 1 50 23 68 25 12
Warburg Sjo Fledelius Syndrome 66
 
Micro Syndrome 68
Warbm1 68

Characteristics:

HPO:

62
warburg micro syndrome 1:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 600118
MedGen35 C1838625
MeSH37 D000015

Summaries for Warburg Micro Syndrome 1

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OMIM:50 Warburg Micro syndrome is a rare autosomal recessive syndrome characterized by microcephaly, microphthalmia,... (600118) more...

MalaCards based summary: Warburg Micro Syndrome 1, also known as warburg sjo fledelius syndrome, is related to warburg micro syndrome and polyneuropathy, and has symptoms including joint hypermobility, overlapping toe and cryptorchidism. An important gene associated with Warburg Micro Syndrome 1 is RAB3GAP1 (RAB3 GTPase Activating Protein Catalytic Subunit 1). Affiliated tissues include eye.

UniProtKB/Swiss-Prot:68 Warburg micro syndrome 1: 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 1

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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 1 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1warburg micro syndrome10.1
2polyneuropathy10.0
3neuronitis10.0
4warburg micro syndrome 19.5NOLC1, RAB3GAP1

Symptoms for Warburg Micro Syndrome 1

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Symptoms by clinical synopsis from OMIM:

600118

Clinical features from OMIM:

600118

HPO human phenotypes related to Warburg Micro Syndrome 1:

(show all 26)
id Description Frequency HPO Source Accession
1 joint hypermobility rare (5%) HP:0001382
2 overlapping toe rare (5%) HP:0001845
3 cryptorchidism HP:0000028
4 microcephaly HP:0000252
5 micrognathia HP:0000347
6 macrotia HP:0000400
7 microcornea HP:0000482
8 deeply set eye HP:0000490
9 ptosis HP:0000508
10 congenital cataract HP:0000519
11 microphthalmia HP:0000568
12 optic atrophy HP:0000648
13 osteoporosis HP:0000939
14 intellectual disability HP:0001249
15 muscular hypotonia HP:0001252
16 spastic diplegia HP:0001264
17 agenesis of corpus callosum HP:0001274
18 cerebellar hypoplasia HP:0001321
19 hyperreflexia HP:0001347
20 failure to thrive HP:0001508
21 cerebral atrophy HP:0002059
22 hypoplasia of the corpus callosum HP:0002079
23 facial hypertrichosis HP:0002219
24 kyphoscoliosis HP:0002751
25 external genital hypoplasia HP:0003241
26 short stature HP:0004322

Drugs & Therapeutics for Warburg Micro Syndrome 1

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Warburg Micro Syndrome 1

Genetic Tests for Warburg Micro Syndrome 1

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Genetic tests related to Warburg Micro Syndrome 1:

id Genetic test Affiliating Genes
1 Warburg Micro Syndrome 125 23 RAB3GAP1

Anatomical Context for Warburg Micro Syndrome 1

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MalaCards organs/tissues related to Warburg Micro Syndrome 1:

34
Eye

Animal Models for Warburg Micro Syndrome 1 or affiliated genes

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Publications for Warburg Micro Syndrome 1

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Articles related to Warburg Micro Syndrome 1:

idTitleAuthorsYear
1
A RAB3GAP1 SINE Insertion in Alaskan Huskies with Polyneuropathy, Ocular Abnormalities, and Neuronal Vacuolation (POANV) Resembling Human Warburg Micro Syndrome 1 (WARBM1). (26596647)
2015
2
Large homozygous RAB3GAP1 gene microdeletion causes Warburg Micro Syndrome 1. (25332050)
2014

Variations for Warburg Micro Syndrome 1

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Clinvar genetic disease variations for Warburg Micro Syndrome 1:

5 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1RAB3GAP1NM_001172435.1(RAB3GAP1): c.899+1G> Asingle nucleotide variantPathogenicrs587777152GRCh37Chr 2, 135883820: 135883820
2RAB3GAP1NM_001172435.1(RAB3GAP1): c.2037_2055dup19 (p.Phe686Alafs)duplicationPathogenicrs587777153GRCh37Chr 2, 135908052: 135908070
3RAB3GAP1NM_001172435.1(RAB3GAP1): c.52A> C (p.Thr18Pro)single nucleotide variantPathogenicrs587777154GRCh37Chr 2, 135810033: 135810033
4RAB3GAP1NM_001172435.1(RAB3GAP1): c.71A> T (p.Glu24Val)single nucleotide variantPathogenicrs587777155GRCh37Chr 2, 135810052: 135810052
5RAB3GAP1NM_001172435.1(RAB3GAP1): c.2343_2347delACCTT (p.Pro782Cysfs)deletionPathogenicrs794727324GRCh37Chr 2, 135920178: 135920182
6RAB3GAP1NM_012233.2(RAB3GAP1): c.2642T> G (p.Leu881Ter)single nucleotide variantPathogenicrs797045905GRCh38Chr 2, 135164629: 135164629
7NM_012233.2(RAB3GAP1): c.2801delC (p.Pro934Leufs)deletionPathogenicrs730882182GRCh37Chr 2, 135926206: 135926206
8RAB3GAP1NM_012233.2(RAB3GAP1): c.649-2A> Gsingle nucleotide variantPathogenicrs730882183GRCh37Chr 2, 135878387: 135878387
9RAB3GAP1NM_001172435.1(RAB3GAP1): c.748+1G> Asingle nucleotide variantPathogenicrs587776651GRCh37Chr 2, 135878489: 135878489
10RAB3GAP1NM_001172435.1(RAB3GAP1): c.2011C> T (p.Arg671Ter)single nucleotide variantPathogenicrs137853052GRCh37Chr 2, 135908026: 135908026
11RAB3GAP1NM_001172435.1(RAB3GAP1): c.1734G> A (p.Trp578Ter)single nucleotide variantPathogenicrs137853053GRCh37Chr 2, 135893313: 135893313
12RAB3GAP1NM_001172435.1(RAB3GAP1): c.1410C> A (p.Tyr470Ter)single nucleotide variantPathogenicrs267606996GRCh37Chr 2, 135891514: 135891514
13RAB3GAP1NM_012233.2(RAB3GAP1): c.264_270delAAAGGATinsTTATTA (p.Lys89Tyrfs)indelPathogenicrs730882184GRCh37Chr 2, 135848681: 135848687

Expression for genes affiliated with Warburg Micro Syndrome 1

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Search GEO for disease gene expression data for Warburg Micro Syndrome 1.

Pathways for genes affiliated with Warburg Micro Syndrome 1

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GO Terms for genes affiliated with Warburg Micro Syndrome 1

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Sources for Warburg Micro Syndrome 1

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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