MCID: MNT006
MIFTS: 28

Manitoba Oculotrichoanal Syndrome

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

Aliases & Classifications for Manitoba Oculotrichoanal Syndrome

MalaCards integrated aliases for Manitoba Oculotrichoanal Syndrome:

Name: Manitoba Oculotrichoanal Syndrome 54 23 50 24 25 56 71 13
Marles Syndrome 23 50 24 25 56 71
Mota Syndrome 23 50 24 56
Marles-Greenberg-Persaud Syndrome 50 25 56
Marles Greenberg Persaud Syndrome 25 29 69
Mota 24 25 71
Oculotrichoanal Syndrome 50 56
Unilateral Upper Eyelid Coloboma, Aberrant Anterior Hairline Pattern, and Anal Anomalies 50
Manitoba Trichoanal Syndrome 50

Characteristics:

Orphanet epidemiological data:

56
oculotrichoanal syndrome
Inheritance: Autosomal recessive;

OMIM:

54
Inheritance:
autosomal recessive

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


HPO:

32
manitoba oculotrichoanal syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Manitoba Oculotrichoanal Syndrome

OMIM : 54
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 bifid nose with or without anorectal and renal anomalies and coloboma, and has symptoms including hypertelorism, microphthalmia and anophthalmia. An important gene associated with Manitoba Oculotrichoanal Syndrome is FREM1 (FRAS1 Related Extracellular Matrix 1). Affiliated tissues include eye.

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.

Genetics Home Reference : 25 Manitoba oculotrichoanal syndrome is a condition involving several characteristic physical features, particularly affecting the eyes (oculo-), hair (tricho-), and anus (-anal).

GeneReviews: NBK1728

Related Diseases for Manitoba Oculotrichoanal Syndrome

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

id Related Disease Score Top Affiliating Genes
1 bifid nose with or without anorectal and renal anomalies 10.9
2 coloboma 9.8
3 bifid nose 9.8

Symptoms & Phenotypes for Manitoba Oculotrichoanal Syndrome

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Eyes:
hypertelorism
anophthalmia, clinical
nasolacrimal duct obstruction
eyelid coloboma
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:

56 32 (show all 13)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 56 32 hallmark (90%) Very frequent (99-80%) HP:0000316
2 microphthalmia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000568
3 anophthalmia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000528
4 cryptophthalmos 56 32 occasional (7.5%) Occasional (29-5%) HP:0001126
5 nasolacrimal duct obstruction 56 32 frequent (33%) Frequent (79-30%) HP:0000579
6 anal stenosis 56 32 frequent (33%) Frequent (79-30%) HP:0002025
7 bifid nasal tip 56 32 occasional (7.5%) Occasional (29-5%) HP:0000456
8 anteriorly placed anus 56 32 frequent (33%) Frequent (79-30%) HP:0001545
9 upper eyelid coloboma 56 32 hallmark (90%) Very frequent (99-80%) HP:0000636
10 abnormal hair pattern 56 32 hallmark (90%) Very frequent (99-80%) HP:0010720
11 omphalocele 32 HP:0001539
12 cleft eyelid 32 HP:0000625
13 abnormality of the hair 32 HP:0001595

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:

id Genetic test Affiliating Genes
1 Marles Greenberg Persaud Syndrome 29
2 Manitoba Oculotrichoanal Syndrome 24 FREM1

Anatomical Context for Manitoba Oculotrichoanal Syndrome

MalaCards organs/tissues related to Manitoba Oculotrichoanal Syndrome:

39
Eye

Publications for Manitoba Oculotrichoanal Syndrome

Articles related to Manitoba Oculotrichoanal Syndrome:

id 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
id 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
id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
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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