WARBM3
MCID: WRB004
MIFTS: 26

Warburg Micro Syndrome 3 (WARBM3)

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

Aliases & Classifications for Warburg Micro Syndrome 3

MalaCards integrated aliases for Warburg Micro Syndrome 3:

Name: Warburg Micro Syndrome 3 57 12 74 29 13 6 72
Micro Syndrome 3 57 12 74
Warbm3 57 12 74
Warburg Micro Syndrome, Type 3 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
warburg micro syndrome 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110718
MeSH 44 D000015
ICD10 33 Q87.0
MedGen 42 C3280203
UMLS 72 C3280203

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 : 74 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:

32 (show all 33)
# 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 wide intermamillary distance 32 HP:0006610
12 postnatal growth retardation 32 HP:0008897
13 ventriculomegaly 32 HP:0002119
14 cerebral cortical atrophy 32 HP:0002120
15 kyphoscoliosis 32 HP:0002751
16 microphthalmia 32 HP:0000568
17 clinodactyly of the 5th finger 32 HP:0004209
18 decreased testicular size 32 HP:0008734
19 micropenis 32 HP:0000054
20 downturned corners of mouth 32 HP:0002714
21 intellectual disability, profound 32 HP:0002187
22 low anterior hairline 32 HP:0000294
23 blepharophimosis 32 HP:0000581
24 microcornea 32 HP:0000482
25 polymicrogyria 32 HP:0002126
26 ankle clonus 32 HP:0011448
27 hypoplasia of the corpus callosum 32 HP:0002079
28 scrotal hypoplasia 32 HP:0000046
29 hypertrichosis 32 HP:0000998
30 postnatal microcephaly 32 HP:0005484
31 muscular hypotonia of the trunk 32 HP:0008936
32 developmental cataract 32 HP:0000519
33 shallow anterior chamber 32 HP:0000594

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
microphthalmia
microcornea
shallow anterior chamber
cataract, congenital
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 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

Articles related to Warburg Micro Syndrome 3:

# Title Authors PMID Year
1
Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome. 8 71
23420520 2013
2
Loss-of-function mutations in RAB18 cause Warburg micro syndrome. 8 71
21473985 2011
3
MICRO syndrome: an entity distinct from COFS syndrome. 8 71
15216543 2004
4
RAB18 Deficiency 71
29300443 2018
5
New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish. 8
20512159 2010
6
Micro syndrome in Muslim Pakistan children. 8
11237903 2001

Variations for Warburg Micro Syndrome 3

ClinVar genetic disease variations for Warburg Micro Syndrome 3:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 RAB18 NM_021252.5(RAB18): c.71T> A (p.Leu24Gln) single nucleotide variant Pathogenic rs387906832 10:27798806-27798806 10:27509877-27509877
2 RAB18 RAB18, EX2DEL deletion Pathogenic
3 RAB18 NM_021252.5(RAB18): c.274_276AGA[1] (p.Arg93del) short repeat Pathogenic rs587776875 10:27822681-27822683 10:27533752-27533754
4 RAB18 NM_021252.5(RAB18): c.619T> C (p.Ter207Gln) single nucleotide variant Pathogenic rs387906833 10:27826978-27826978 10:27538049-27538049
5 RAB18 NM_021252.5(RAB18): c.284C> G (p.Thr95Arg) single nucleotide variant Pathogenic rs587777151 10:27822688-27822688 10:27533759-27533759

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

74
# Symbol AA change Variation ID SNP ID
1 RAB18 p.Leu24Gln VAR_066495 rs387906832

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
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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