MCID: WRB004
MIFTS: 25

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 : 54
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 congenital cataract, optic atrophy and nystagmus. An important gene associated with Warburg Micro Syndrome 3 is RAB18 (RAB18, Member RAS Oncogene Family). Affiliated tissues include testes and cortex.

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.

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.

Related Diseases for Warburg Micro Syndrome 3

Symptoms & Phenotypes for Warburg Micro Syndrome 3

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Eyes:
nystagmus
microphthalmia
optic nerve atrophy
microcornea
atonic pupils
more
Head And Neck- Face:
micrognathia
short prominent overhanging philtrum

Skeletal- Spine:
kyphoscoliosis

Head And Neck- Mouth:
narrow palate
downturned corners of mouth

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

Genitourinary- Internal Genitalia Male:
small testes
retractile testes
soft testes

Genitourinary- External Genitalia Male:
hypoplastic scrotum
small penis

Skeletal- Skull:
microcephaly, postnatal

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
cortical atrophy
polymicrogyria
enlarged ventricles
hypoplastic corpus callosum
more
Head And Neck- Ears:
large ears

Head And Neck- Nose:
short nose
prominent root of nose

Chest- Breasts:
widely spaced nipples

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

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

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

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

MalaCards organs/tissues related to Warburg Micro Syndrome 3:

39
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
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

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7 CNVD
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10 dbSNP
11 DGIdb
16 ExPASy
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28 GO
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59 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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