MCID: MNT006
MIFTS: 27

Manitoba Oculotrichoanal Syndrome

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

Aliases & Classifications for Manitoba Oculotrichoanal Syndrome

MalaCards integrated aliases for Manitoba Oculotrichoanal Syndrome:

Name: Manitoba Oculotrichoanal Syndrome 53 23 49 24 55 71 36 13
Marles Syndrome 53 23 49 24 55 71
Marles-Greenberg-Persaud Syndrome 49 24 55
Marles Greenberg Persaud Syndrome 24 28 69
Mota Syndrome 23 49 55
Mota 53 24 71
Oculotrichoanal Syndrome 49 55
Unilateral Upper Eyelid Coloboma, Aberrant Anterior Hairline Pattern, and Anal Anomalies 49
Manitoba Trichoanal Syndrome 49

Characteristics:

Orphanet epidemiological data:

55
oculotrichoanal syndrome
Inheritance: Autosomal recessive;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
majority of cases in manitoba indians, northeastern manitoba, canada


HPO:

31
manitoba oculotrichoanal syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 248450
Orphanet 55 ORPHA2717
UMLS via Orphanet 70 C1855425
ICD10 via Orphanet 33 Q87.8
MedGen 39 C1855425
MeSH 41 D005124
KEGG 36 H00686
UMLS 69 C1855425

Summaries for Manitoba Oculotrichoanal Syndrome

OMIM : 53 Manitoba-oculo-tricho-anal (MOTA) syndrome is a rare condition defined by eyelid colobomas, cryptophthalmos, and anophthalmia/microphthalmia, an aberrant hairline, a bifid or broad nasal tip, and gastrointestinal anomalies such as omphalocele and anal stenosis. Autosomal recessive inheritance was assumed because of consanguinity in the Oji-Cre population of Manitoba in which the syndrome was first described (summary by Slavotinek et al., 2011). (248450)

MalaCards based summary : Manitoba Oculotrichoanal Syndrome, also known as marles syndrome, is related to coloboma of macula and renal hypodysplasia/aplasia 1, and has symptoms including hypertelorism, microphthalmia and abnormal hair pattern. An important gene associated with Manitoba Oculotrichoanal Syndrome is FREM1 (FRAS1 Related Extracellular Matrix 1). Affiliated tissues include eye.

Genetics Home Reference : 24 Manitoba oculotrichoanal syndrome is a condition involving several characteristic physical features, particularly affecting the eyes (oculo-), hair (tricho-), and anus (-anal).

UniProtKB/Swiss-Prot : 71 Manitoba oculotrichoanal syndrome: A rare condition defined by eyelid colobomas, cryptophthalmos, and anophthalmia/microphthalmia, an aberrant hairline, a bifid or broad nasal tip, and gastrointestinal anomalies such as omphalocele and anal stenosis.

GeneReviews: NBK1728

Related Diseases for Manitoba Oculotrichoanal Syndrome

Diseases related to Manitoba Oculotrichoanal Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 coloboma of macula 9.9
2 renal hypodysplasia/aplasia 1 9.9
3 bifid nose with or without anorectal and renal anomalies 9.9
4 bifid nose 9.9

Symptoms & Phenotypes for Manitoba Oculotrichoanal Syndrome

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
hypertelorism
nasolacrimal duct obstruction
eyelid coloboma
anophthalmia, clinical
oculopalpebral synechia
more
Head And Neck Nose:
nasal tip groove

Abdomen Gastroin testinal:
omphalocele
anal stenosis
anteriorly displaced anus

Skin Nails Hair Hair:
aberrant anterolateral scalp hairline


Clinical features from OMIM:

248450

Human phenotypes related to Manitoba Oculotrichoanal Syndrome:

55 31 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000316
2 microphthalmia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000568
3 abnormal hair pattern 55 31 hallmark (90%) Very frequent (99-80%) HP:0010720
4 nasolacrimal duct obstruction 55 31 frequent (33%) Frequent (79-30%) HP:0000579
5 anteriorly placed anus 55 31 frequent (33%) Frequent (79-30%) HP:0001545
6 anophthalmia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000528
7 anal stenosis 55 31 frequent (33%) Frequent (79-30%) HP:0002025
8 upper eyelid coloboma 55 31 hallmark (90%) Very frequent (99-80%) HP:0000636
9 cryptophthalmos 55 31 occasional (7.5%) Occasional (29-5%) HP:0001126
10 bifid nasal tip 55 31 occasional (7.5%) Occasional (29-5%) HP:0000456
11 abnormality of the hair 31 HP:0001595
12 omphalocele 31 HP:0001539
13 eyelid coloboma 31 HP:0000625

Drugs & Therapeutics for Manitoba Oculotrichoanal Syndrome

Search Clinical Trials , NIH Clinical Center for Manitoba Oculotrichoanal Syndrome

Genetic Tests for Manitoba Oculotrichoanal Syndrome

Genetic tests related to Manitoba Oculotrichoanal Syndrome:

# Genetic test Affiliating Genes
1 Marles Greenberg Persaud Syndrome 28 FREM1

Anatomical Context for Manitoba Oculotrichoanal Syndrome

MalaCards organs/tissues related to Manitoba Oculotrichoanal Syndrome:

38
Eye

Publications for Manitoba Oculotrichoanal Syndrome

Articles related to Manitoba Oculotrichoanal Syndrome:

# Title Authors Year
1
Evidence for additional FREM1 heterogeneity in Manitoba oculotrichoanal syndrome. ( 22690109 )
2012
2
Manitoba Oculotrichoanal Syndrome ( 20301721 )
1993

Variations for Manitoba Oculotrichoanal Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Manitoba Oculotrichoanal Syndrome:

71
# Symbol AA change Variation ID SNP ID
1 FREM1 p.Leu1324Arg VAR_066412 rs281875281
2 FREM1 p.Val2091Ile VAR_066413 rs281875282

ClinVar genetic disease variations for Manitoba Oculotrichoanal Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FREM1 NG_017005.2: g.64585_124811del deletion Pathogenic GRCh38 Chromosome 9, 14790426: 14850652
2 FREM1 FREM1, 4-BP DEL, 2097ATTA deletion Pathogenic
3 FREM1 NM_144966.5(FREM1): c.3971T> G (p.Leu1324Arg) single nucleotide variant Pathogenic/Likely pathogenic rs281875281 GRCh37 Chromosome 9, 14792751: 14792751
4 FREM1 FREM1, VAL209ILE undetermined variant Pathogenic

Expression for Manitoba Oculotrichoanal Syndrome

Search GEO for disease gene expression data for Manitoba Oculotrichoanal Syndrome.

Pathways for Manitoba Oculotrichoanal Syndrome

GO Terms for Manitoba Oculotrichoanal Syndrome

Sources for Manitoba Oculotrichoanal Syndrome

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
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
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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