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

Aliases & Descriptions for Warburg Micro Syndrome 3:

Name: Warburg Micro Syndrome 3 54 12 24 66 29 13 69
Micro Syndrome 3 12 66
Warbm3 12 66

Characteristics:

HPO:

32
warburg micro syndrome 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 614222
Disease Ontology 12 DOID:0110718
ICD10 33 Q87.0
MedGen 40 C3280203
MeSH 42 D000015

Summaries for Warburg Micro Syndrome 3

UniProtKB/Swiss-Prot : 66 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, nystagmus and narrow palate. An important gene associated with Warburg Micro Syndrome 3 is RAB18 (RAB18, Member RAS Oncogene Family).

Disease Ontology : 12 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: 614222

Related Diseases for Warburg Micro Syndrome 3

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:

id Related Disease Score Top Affiliating Genes
1 warburg micro syndrome 1 10.9

Symptoms & Phenotypes for Warburg Micro Syndrome 3

Symptoms by clinical synopsis from OMIM:

614222

Clinical features from OMIM:

614222

Human phenotypes related to Warburg Micro Syndrome 3:

32 (show all 33)
id Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 nystagmus 32 HP:0000639
3 narrow palate 32 HP:0000189
4 macrotia 32 HP:0000400
5 cataract 32 HP:0000518
6 short nose 32 HP:0003196
7 microcephaly 32 HP:0000252
8 optic atrophy 32 HP:0000648
9 flexion contracture 32 HP:0001371
10 brachycephaly 32 HP:0000248
11 spastic tetraplegia 32 HP:0002510
12 micrognathia 32 HP:0000347
13 postnatal growth retardation 32 HP:0008897
14 ventriculomegaly 32 HP:0002119
15 cerebral cortical atrophy 32 HP:0002120
16 microphthalmia 32 HP:0000568
17 clinodactyly of the 5th finger 32 HP:0004209
18 decreased testicular size 32 HP:0008734
19 downturned corners of mouth 32 HP:0002714
20 intellectual disability, profound 32 HP:0002187
21 low anterior hairline 32 HP:0000294
22 blepharophimosis 32 HP:0000581
23 microcornea 32 HP:0000482
24 polymicrogyria 32 HP:0002126
25 scrotal hypoplasia 32 HP:0000046
26 hypoplasia of the corpus callosum 32 HP:0002079
27 micropenis 32 HP:0000054
28 kyphoscoliosis 32 HP:0002751
29 congenital cataract 32 HP:0000519
30 muscular hypotonia of the trunk 32 HP:0008936
31 postnatal microcephaly 32 HP:0005484
32 ankle clonus 32 HP:0011448
33 shallow anterior chamber 32 HP:0000594

UMLS symptoms related to Warburg Micro Syndrome 3:


seizures

Drugs & Therapeutics for Warburg Micro Syndrome 3

Search Clinical Trials , NIH Clinical Center for Warburg Micro Syndrome 3

Genetic Tests for Warburg Micro Syndrome 3

Genetic tests related to Warburg Micro Syndrome 3:

id Genetic test Affiliating Genes
1 Warburg Micro Syndrome 3 29 24 RAB18

Anatomical Context for Warburg Micro Syndrome 3

Publications for Warburg Micro Syndrome 3

Variations for Warburg Micro Syndrome 3

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

66
id Symbol AA change Variation ID SNP ID
1 RAB18 p.Leu24Gln VAR_066495 rs387906832

ClinVar genetic disease variations for Warburg Micro Syndrome 3:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 RAB18 NM_021252.4(RAB18): c.71T> A (p.Leu24Gln) single nucleotide variant Pathogenic rs387906832 GRCh37 Chromosome 10, 27798806: 27798806
2 RAB18 RAB18, EX2DEL deletion Pathogenic
3 RAB18 NM_021252.4(RAB18): c.277_279delAGA (p.Arg93del) deletion Pathogenic rs587776875 GRCh37 Chromosome 10, 27822681: 27822683
4 RAB18 NM_021252.4(RAB18): c.619T> C (p.Ter207Gln) single nucleotide variant Pathogenic rs387906833 GRCh37 Chromosome 10, 27826978: 27826978
5 RAB18 NM_021252.4(RAB18): c.284C> G (p.Thr95Arg) single nucleotide variant Pathogenic rs587777151 GRCh37 Chromosome 10, 27822688: 27822688

Expression for Warburg Micro Syndrome 3

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

Pathways for Warburg Micro Syndrome 3

GO Terms for Warburg Micro Syndrome 3

Sources for Warburg Micro Syndrome 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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