MCID: WRB004
MIFTS: 23

Warburg Micro Syndrome 3

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

Aliases & Classifications for Warburg Micro Syndrome 3

Summaries for Warburg Micro Syndrome 3

OMIM : 57 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 : 75 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:

57
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

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

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

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

Skeletal Spine:
kyphoscoliosis

Skeletal Skull:
microcephaly, postnatal

Genitourinary External Genitalia Male:
hypoplastic scrotum
small penis

GenitourinaryInternal GenitaliaMale:
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

Human phenotypes related to Warburg Micro Syndrome 3:

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

# Genetic test Affiliating Genes
1 Warburg Micro Syndrome 3 29 RAB18

Anatomical Context for Warburg Micro Syndrome 3

MalaCards organs/tissues related to Warburg Micro Syndrome 3:

41
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:

75
# 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_279delAGA (p.Arg93del) deletion Pathogenic rs587776875 GRCh37 Chromosome 10, 27822681: 27822683
5 RAB18 NM_021252.4(RAB18): c.277_279delAGA (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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
37 KEGG
38 LifeMap
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45 MESH via Orphanet
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49 NCI
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54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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