MCID: MNT006
MIFTS: 26

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 57 24 53 25 59 75 37 13 40
Marles Syndrome 57 24 53 25 59 75
Marles Greenberg Persaud Syndrome 25 29 6 73
Marles-Greenberg-Persaud Syndrome 53 25 59
Mota Syndrome 24 53 59
Mota 57 25 75
Oculotrichoanal Syndrome 53 59
Unilateral Upper Eyelid Coloboma, Aberrant Anterior Hairline Pattern, and Anal Anomalies 53
Manitoba Trichoanal Syndrome 53

Characteristics:

Orphanet epidemiological data:

59
oculotrichoanal syndrome
Inheritance: Autosomal recessive;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
manitoba oculotrichoanal syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 248450
Orphanet 59 ORPHA2717
ICD10 via Orphanet 34 Q87.8
UMLS via Orphanet 74 C1855425
MedGen 42 C1855425
MeSH 44 D005124
KEGG 37 H00686
UMLS 73 C1855425

Summaries for Manitoba Oculotrichoanal Syndrome

OMIM : 57 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 renal hypodysplasia/aplasia 1 and bifid nose with or without anorectal and renal anomalies. An important gene associated with Manitoba Oculotrichoanal Syndrome is FREM1 (FRAS1 Related Extracellular Matrix 1). Affiliated tissues include eye, and related phenotypes are hypertelorism and bifid nasal tip

UniProtKB/Swiss-Prot : 75 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:

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

Symptoms & Phenotypes for Manitoba Oculotrichoanal Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
nasolacrimal duct obstruction
eyelid coloboma
anophthalmia, clinical
oculopalpebral synechia
more
Head And Neck Nose:
nasal tip groove

Abdomen Gastrointestinal:
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:

59 32 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
2 bifid nasal tip 59 32 occasional (7.5%) Occasional (29-5%) HP:0000456
3 anophthalmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000528
4 microphthalmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000568
5 nasolacrimal duct obstruction 59 32 frequent (33%) Frequent (79-30%) HP:0000579
6 upper eyelid coloboma 59 32 hallmark (90%) Very frequent (99-80%) HP:0000636
7 cryptophthalmos 59 32 occasional (7.5%) Occasional (29-5%) HP:0001126
8 anteriorly placed anus 59 32 frequent (33%) Frequent (79-30%) HP:0001545
9 anal stenosis 59 32 frequent (33%) Frequent (79-30%) HP:0002025
10 abnormal hair pattern 59 32 hallmark (90%) Very frequent (99-80%) HP:0010720
11 eyelid coloboma 32 HP:0000625
12 omphalocele 32 HP:0001539
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:

# Genetic test Affiliating Genes
1 Marles Greenberg Persaud Syndrome 29 FREM1

Anatomical Context for Manitoba Oculotrichoanal Syndrome

MalaCards organs/tissues related to Manitoba Oculotrichoanal Syndrome:

41
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:

75
# 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
(show top 50) (show all 338)
# 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 NG_017005.2: g.64585_124811del deletion Pathogenic GRCh37 Chromosome 9, 14790424: 14850650
3 FREM1 FREM1, 4-BP DEL, 2097ATTA deletion Pathogenic
4 FREM1 NM_144966.5(FREM1): c.3971T> G (p.Leu1324Arg) single nucleotide variant Likely pathogenic rs281875281 GRCh37 Chromosome 9, 14792751: 14792751
5 FREM1 NM_144966.5(FREM1): c.3971T> G (p.Leu1324Arg) single nucleotide variant Likely pathogenic rs281875281 GRCh38 Chromosome 9, 14792753: 14792753
6 FREM1 FREM1, VAL209ILE undetermined variant Pathogenic
7 FREM1 NM_144966.5(FREM1): c.2274C> A (p.Gly758=) single nucleotide variant Benign/Likely benign rs12235714 GRCh37 Chromosome 9, 14823221: 14823221
8 FREM1 NM_144966.5(FREM1): c.2274C> A (p.Gly758=) single nucleotide variant Benign/Likely benign rs12235714 GRCh38 Chromosome 9, 14823223: 14823223
9 FREM1 NM_144966.5(FREM1): c.2587C> G (p.Leu863Val) single nucleotide variant Benign rs7041710 GRCh37 Chromosome 9, 14816829: 14816829
10 FREM1 NM_144966.5(FREM1): c.2587C> G (p.Leu863Val) single nucleotide variant Benign rs7041710 GRCh38 Chromosome 9, 14816831: 14816831
11 FREM1 NM_144966.5(FREM1): c.5335-11dupT duplication Benign/Likely benign rs140882884 GRCh37 Chromosome 9, 14756455: 14756455
12 FREM1 NM_144966.5(FREM1): c.5335-11dupT duplication Benign/Likely benign rs140882884 GRCh38 Chromosome 9, 14756457: 14756457
13 FREM1 NM_144966.5(FREM1): c.1394G> C (p.Gly465Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs41298151 GRCh37 Chromosome 9, 14842658: 14842658
14 FREM1 NM_144966.5(FREM1): c.1394G> C (p.Gly465Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs41298151 GRCh38 Chromosome 9, 14842660: 14842660
15 FREM1 NM_144966.5(FREM1): c.6428A> C (p.Gln2143Pro) single nucleotide variant Benign rs10961689 GRCh37 Chromosome 9, 14737506: 14737506
16 FREM1 NM_144966.5(FREM1): c.6428A> C (p.Gln2143Pro) single nucleotide variant Benign rs10961689 GRCh38 Chromosome 9, 14737508: 14737508
17 FREM1 NM_144966.5(FREM1): c.5859T> C (p.Val1953=) single nucleotide variant Likely benign rs4741426 GRCh37 Chromosome 9, 14747412: 14747412
18 FREM1 NM_144966.5(FREM1): c.5859T> C (p.Val1953=) single nucleotide variant Likely benign rs4741426 GRCh38 Chromosome 9, 14747414: 14747414
19 FREM1 NM_144966.5(FREM1): c.5004C> A (p.Ile1668=) single nucleotide variant Benign rs17219005 GRCh37 Chromosome 9, 14770658: 14770658
20 FREM1 NM_144966.5(FREM1): c.5004C> A (p.Ile1668=) single nucleotide variant Benign rs17219005 GRCh38 Chromosome 9, 14770660: 14770660
21 FREM1 NM_144966.5(FREM1): c.4791T> C (p.Asp1597=) single nucleotide variant Benign rs1032474 GRCh38 Chromosome 9, 14775855: 14775855
22 FREM1 NM_144966.5(FREM1): c.4791T> C (p.Asp1597=) single nucleotide variant Benign rs1032474 GRCh37 Chromosome 9, 14775853: 14775853
23 FREM1 NM_144966.5(FREM1): c.4785C> T (p.Ala1595=) single nucleotide variant Benign rs10733289 GRCh38 Chromosome 9, 14775861: 14775861
24 FREM1 NM_144966.5(FREM1): c.4785C> T (p.Ala1595=) single nucleotide variant Benign rs10733289 GRCh37 Chromosome 9, 14775859: 14775859
25 FREM1 NM_144966.5(FREM1): c.4727A> T (p.Asn1576Ile) single nucleotide variant Benign/Likely benign rs2101770 GRCh37 Chromosome 9, 14775917: 14775917
26 FREM1 NM_144966.5(FREM1): c.4727A> T (p.Asn1576Ile) single nucleotide variant Benign/Likely benign rs2101770 GRCh38 Chromosome 9, 14775919: 14775919
27 FREM1 NM_144966.5(FREM1): c.4617G> A (p.Ala1539=) single nucleotide variant Likely benign rs2131880 GRCh38 Chromosome 9, 14776029: 14776029
28 FREM1 NM_144966.5(FREM1): c.4617G> A (p.Ala1539=) single nucleotide variant Likely benign rs2131880 GRCh37 Chromosome 9, 14776027: 14776027
29 FREM1 NM_144966.5(FREM1): c.3657A> G (p.Ala1219=) single nucleotide variant Benign rs10738380 GRCh38 Chromosome 9, 14801689: 14801689
30 FREM1 NM_144966.5(FREM1): c.3657A> G (p.Ala1219=) single nucleotide variant Benign rs10738380 GRCh37 Chromosome 9, 14801687: 14801687
31 FREM1 NM_144966.5(FREM1): c.3634G> T (p.Ala1212Ser) single nucleotide variant Benign rs35870000 GRCh37 Chromosome 9, 14801710: 14801710
32 FREM1 NM_144966.5(FREM1): c.3634G> T (p.Ala1212Ser) single nucleotide variant Benign rs35870000 GRCh38 Chromosome 9, 14801712: 14801712
33 FREM1 NM_144966.5(FREM1): c.3089-4G> T single nucleotide variant Benign rs10810249 GRCh37 Chromosome 9, 14806848: 14806848
34 FREM1 NM_144966.5(FREM1): c.3089-4G> T single nucleotide variant Benign rs10810249 GRCh38 Chromosome 9, 14806850: 14806850
35 FREM1 NM_144966.5(FREM1): c.2408C> A (p.Ser803Tyr) single nucleotide variant Benign rs7023244 GRCh37 Chromosome 9, 14819370: 14819370
36 FREM1 NM_144966.5(FREM1): c.2408C> A (p.Ser803Tyr) single nucleotide variant Benign rs7023244 GRCh38 Chromosome 9, 14819372: 14819372
37 FREM1 NM_144966.5(FREM1): c.1315G> C (p.Val439Leu) single nucleotide variant Benign rs2779500 GRCh38 Chromosome 9, 14846038: 14846038
38 FREM1 NM_144966.5(FREM1): c.1315G> C (p.Val439Leu) single nucleotide variant Benign rs2779500 GRCh37 Chromosome 9, 14846036: 14846036
39 FREM1 NM_144966.5(FREM1): c.829-12A> G single nucleotide variant Benign rs2818940 GRCh38 Chromosome 9, 14851619: 14851619
40 FREM1 NM_144966.5(FREM1): c.829-12A> G single nucleotide variant Benign rs2818940 GRCh37 Chromosome 9, 14851617: 14851617
41 FREM1 NM_144966.5(FREM1): c.3575G> A (p.Arg1192His) single nucleotide variant Benign/Likely benign rs79023327 GRCh37 Chromosome 9, 14801769: 14801769
42 FREM1 NM_144966.5(FREM1): c.3575G> A (p.Arg1192His) single nucleotide variant Benign/Likely benign rs79023327 GRCh38 Chromosome 9, 14801771: 14801771
43 FREM1 NM_144966.5(FREM1): c.1464C> T (p.Ser488=) single nucleotide variant Conflicting interpretations of pathogenicity rs200064797 GRCh37 Chromosome 9, 14842588: 14842588
44 FREM1 NM_144966.5(FREM1): c.1464C> T (p.Ser488=) single nucleotide variant Conflicting interpretations of pathogenicity rs200064797 GRCh38 Chromosome 9, 14842590: 14842590
45 FREM1 NM_144966.5(FREM1): c.4466G> A (p.Arg1489Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs61732355 GRCh37 Chromosome 9, 14776178: 14776178
46 FREM1 NM_144966.5(FREM1): c.4466G> A (p.Arg1489Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs61732355 GRCh38 Chromosome 9, 14776180: 14776180
47 FREM1 NM_144966.5(FREM1): c.5123T> C (p.Ile1708Thr) single nucleotide variant Uncertain significance rs200472299 GRCh37 Chromosome 9, 14769803: 14769803
48 FREM1 NM_144966.5(FREM1): c.5123T> C (p.Ile1708Thr) single nucleotide variant Uncertain significance rs200472299 GRCh38 Chromosome 9, 14769805: 14769805
49 FREM1 NM_144966.5(FREM1): c.*2461C> A single nucleotide variant Uncertain significance rs112050651 GRCh37 Chromosome 9, 14734933: 14734933
50 FREM1 NM_144966.5(FREM1): c.*2461C> A single nucleotide variant Uncertain significance rs112050651 GRCh38 Chromosome 9, 14734935: 14734935

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

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