WARBM3
MCID: WRB004
MIFTS: 23

Warburg Micro Syndrome 3 (WARBM3)

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

Aliases & Classifications for Warburg Micro Syndrome 3

Summaries for Warburg Micro Syndrome 3

OMIM : 58 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 An important gene associated with Warburg Micro Syndrome 3 is RAB18 (RAB18, Member RAS Oncogene Family). Affiliated tissues include testes and cortex, and related phenotypes are nystagmus and seizures

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 : 76 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

Human phenotypes related to Warburg Micro Syndrome 3:

33 (show all 32)
# Description HPO Frequency HPO Source Accession
1 nystagmus 33 HP:0000639
2 seizures 33 HP:0001250
3 narrow palate 33 HP:0000189
4 macrotia 33 HP:0000400
5 short nose 33 HP:0003196
6 optic atrophy 33 HP:0000648
7 flexion contracture 33 HP:0001371
8 brachycephaly 33 HP:0000248
9 spastic tetraplegia 33 HP:0002510
10 micrognathia 33 HP:0000347
11 postnatal growth retardation 33 HP:0008897
12 ventriculomegaly 33 HP:0002119
13 cerebral cortical atrophy 33 HP:0002120
14 kyphoscoliosis 33 HP:0002751
15 microphthalmia 33 HP:0000568
16 clinodactyly of the 5th finger 33 HP:0004209
17 decreased testicular size 33 HP:0008734
18 downturned corners of mouth 33 HP:0002714
19 intellectual disability, profound 33 HP:0002187
20 low anterior hairline 33 HP:0000294
21 blepharophimosis 33 HP:0000581
22 microcornea 33 HP:0000482
23 polymicrogyria 33 HP:0002126
24 micropenis 33 HP:0000054
25 ankle clonus 33 HP:0011448
26 hypoplasia of the corpus callosum 33 HP:0002079
27 scrotal hypoplasia 33 HP:0000046
28 postnatal microcephaly 33 HP:0005484
29 muscular hypotonia of the trunk 33 HP:0008936
30 hypertrichosis 33 HP:0000998
31 shallow anterior chamber 33 HP:0000594
32 developmental cataract 33 HP:0000519

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus
microphthalmia
microcornea
cataract, congenital
optic nerve atrophy
more
Head And Neck Mouth:
narrow palate
downturned corners of mouth

Head And Neck Head:
brachycephaly
postnatal microcephaly

Growth Height:
postnatal growth retardation

Skin Nails Hair Hair:
low anterior hairline
centrally placed hair whorl
hypertrichosis of upper back

Chest Breasts:
widely spaced nipples

Head And Neck Ears:
large ears

Skeletal Hands:
flexion contractures of fingers
cortical thumbs
bilateral fifth finger clinodactyly

Head And Neck Teeth:
prominent secondary alveolar ridges

Skeletal Limbs:
distal limb contractures

Muscle Soft Tissue:
decreased muscle mass, especially distally

Neurologic Central Nervous System:
seizures
polymicrogyria
enlarged ventricles
hypoplastic corpus callosum
cortical atrophy
more
Head And Neck Nose:
short nose
prominent root of nose

Head And Neck Face:
micrognathia
short prominent overhanging philtrum

Skeletal Spine:
kyphoscoliosis

Neurologic Peripheral Nervous System:
ankle clonus
increased deep tendon responses of lower extremities

Skeletal Skull:
microcephaly, postnatal

Genitourinary External Genitalia Male:
hypoplastic scrotum
small penis

Genitourinary Internal Genitalia Male:
small testes
retractile testes
soft testes

Genitourinary External Genitalia Female:
fused, hypoplastic labia minora

Skeletal Feet:
externally rotated feet in valgus position

Clinical features from OMIM:

614222

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 30 RAB18

Anatomical Context for Warburg Micro Syndrome 3

MalaCards organs/tissues related to Warburg Micro Syndrome 3:

42
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:

76
# 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 NM_021252.4(RAB18): c.71T> A (p.Leu24Gln) single nucleotide variant Pathogenic rs387906832 GRCh38 Chromosome 10, 27509877: 27509877
3 RAB18 RAB18, EX2DEL deletion Pathogenic
4 RAB18 NM_021252.4(RAB18): c.277_279del (p.Arg93del) deletion Pathogenic rs587776875 GRCh37 Chromosome 10, 27822681: 27822683
5 RAB18 NM_021252.4(RAB18): c.277_279del (p.Arg93del) deletion Pathogenic rs587776875 GRCh38 Chromosome 10, 27533752: 27533754
6 RAB18 NM_021252.4(RAB18): c.619T> C (p.Ter207Gln) single nucleotide variant Pathogenic rs387906833 GRCh37 Chromosome 10, 27826978: 27826978
7 RAB18 NM_021252.4(RAB18): c.619T> C (p.Ter207Gln) single nucleotide variant Pathogenic rs387906833 GRCh38 Chromosome 10, 27538049: 27538049
8 RAB18 NM_021252.4(RAB18): c.284C> G (p.Thr95Arg) single nucleotide variant Pathogenic rs587777151 GRCh37 Chromosome 10, 27822688: 27822688
9 RAB18 NM_021252.4(RAB18): c.284C> G (p.Thr95Arg) single nucleotide variant Pathogenic rs587777151 GRCh38 Chromosome 10, 27533759: 27533759

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
17 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
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38 KEGG
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45 MeSH
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50 NCI
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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