MCID: WRB004
MIFTS: 23

Warburg Micro Syndrome 3

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

Aliases & Classifications for Warburg Micro Syndrome 3

Summaries for Warburg Micro Syndrome 3

OMIM : 53 Warburg Micro syndrome is a rare autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism (summary by Morris-Rosendahl et al., 2010). For a discussion of genetic heterogeneity of Warburg Micro syndrome, see 600118. (614222)

MalaCards based summary : Warburg Micro Syndrome 3, is also known as micro syndrome 3, 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). Affiliated tissues include testes and cortex.

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.

UniProtKB/Swiss-Prot : 71 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.

Related Diseases for Warburg Micro Syndrome 3

Symptoms & Phenotypes for Warburg Micro Syndrome 3

Symptoms via clinical synopsis from OMIM:

53
NeurologicCentralNervousSystem:
seizures
polymicrogyria
enlarged ventricles
hypoplastic corpus callosum
cortical atrophy
more
HeadAndNeckMouth:
narrow palate
downturned corners of mouth

HeadAndNeckHead:
brachycephaly
postnatal microcephaly

GrowthHeight:
postnatal growth retardation

SkeletalSpine:
kyphoscoliosis

SkeletalSkull:
microcephaly, postnatal

GenitourinaryExternalGenitaliaMale:
hypoplastic scrotum
small penis

NeurologicPeripheralNervousSystem:
ankle clonus
increased deep tendon responses of lower extremities

HeadAndNeckTeeth:
prominent secondary alveolar ridges

SkeletalLimbs:
distal limb contractures

MuscleSoftTissue:
decreased muscle mass, especially distally

HeadAndNeckEyes:
nystagmus
microphthalmia
microcornea
cataract, congenital
optic nerve atrophy
more
HeadAndNeckNose:
short nose
prominent root of nose

HeadAndNeckFace:
micrognathia
short prominent overhanging philtrum

SkinNailsHairHair:
low anterior hairline
centrally placed hair whorl
hypertrichosis of upper back

ChestBreasts:
widely spaced nipples

HeadAndNeckEars:
large ears

SkeletalHands:
flexion contractures of fingers
cortical thumbs
bilateral fifth finger clinodactyly

GenitourinaryInternalGenitaliaMale:
small testes
retractile testes
soft testes

GenitourinaryExternalGenitaliaFemale:
fused, hypoplastic labia minora

SkeletalFeet:
externally rotated feet in valgus position


Clinical features from OMIM:

614222

Human phenotypes related to Warburg Micro Syndrome 3:

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

# Genetic test Affiliating Genes
1 Warburg Micro Syndrome 3 28 RAB18

Anatomical Context for Warburg Micro Syndrome 3

MalaCards organs/tissues related to Warburg Micro Syndrome 3:

38
Testes, Cortex

Publications for Warburg Micro Syndrome 3

Variations for Warburg Micro Syndrome 3

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

71
# Symbol AA change Variation ID SNP ID
1 RAB18 p.Leu24Gln VAR_066495 rs387906832

ClinVar genetic disease variations for Warburg Micro Syndrome 3:

6
# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
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41 MeSH
42 MESH via Orphanet
43 MGI
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47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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