MOTA
MCID: MNT006
MIFTS: 27

Manitoba Oculotrichoanal Syndrome (MOTA)

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

Aliases & Classifications for Manitoba Oculotrichoanal Syndrome

MalaCards integrated aliases for Manitoba Oculotrichoanal Syndrome:

Name: Manitoba Oculotrichoanal Syndrome 58 54 26 60 76 38 13 41
Marles Syndrome 58 54 26 60 76
Marles Greenberg Persaud Syndrome 26 30 6 74
Marles-Greenberg-Persaud Syndrome 54 26 60
Mota 58 26 76
Oculotrichoanal Syndrome 54 60
Mota Syndrome 54 60
Unilateral Upper Eyelid Coloboma, Aberrant Anterior Hairline Pattern, and Anal Anomalies 54
Manitoba Trichoanal Syndrome 54

Characteristics:

Orphanet epidemiological data:

60
oculotrichoanal syndrome
Inheritance: Autosomal recessive;

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
manitoba oculotrichoanal syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 248450
KEGG 38 H00686
MeSH 45 D005124
ICD10 via Orphanet 35 Q87.8
UMLS via Orphanet 75 C1855425
Orphanet 60 ORPHA2717
MedGen 43 C1855425
UMLS 74 C1855425

Summaries for Manitoba Oculotrichoanal Syndrome

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2717Disease definitionOculotrichoanal syndrome is a form of rare, multiple congenital anomalies/dysmorphic syndrome characterized by a combination of various nose, eye, gastrointestinal and genitourinary abnormalities. Clinical presentation is variable and often includes bifid and broad nasal tip, aberrant anterior hairline, coloboma, cryptophthalmos or unilateral anophthalmia, anal anomalies, and omphalocele. Intelligence and global development is normal.Visit the Orphanet disease page for more resources.

MalaCards based summary : Manitoba Oculotrichoanal Syndrome, also known as marles syndrome, is related to suppression amblyopia and amblyopia. 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 abnormal hair pattern

Genetics Home Reference : 26 Manitoba oculotrichoanal syndrome is a condition involving several characteristic physical features, particularly affecting the eyes (oculo-), hair (tricho-), and anus (-anal).

OMIM : 58 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)

UniProtKB/Swiss-Prot : 76 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.

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 suppression amblyopia 10.2
2 amblyopia 10.2
3 coloboma of macula 10.0
4 renal hypodysplasia/aplasia 1 10.0
5 bifid nose with or without anorectal and renal anomalies 10.0
6 blood group, junior system 10.0
7 bifid nose 10.0

Graphical network of the top 20 diseases related to Manitoba Oculotrichoanal Syndrome:



Diseases related to Manitoba Oculotrichoanal Syndrome

Symptoms & Phenotypes for Manitoba Oculotrichoanal Syndrome

Human phenotypes related to Manitoba Oculotrichoanal Syndrome:

60 33 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000316
2 abnormal hair pattern 60 33 hallmark (90%) Very frequent (99-80%) HP:0010720
3 upper eyelid coloboma 60 33 hallmark (90%) Very frequent (99-80%) HP:0000636
4 nasolacrimal duct obstruction 60 33 frequent (33%) Frequent (79-30%) HP:0000579
5 anteriorly placed anus 60 33 frequent (33%) Frequent (79-30%) HP:0001545
6 anal stenosis 60 33 frequent (33%) Frequent (79-30%) HP:0002025
7 microphthalmia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000568
8 anophthalmia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000528
9 cryptophthalmos 60 33 occasional (7.5%) Occasional (29-5%) HP:0001126
10 bifid nasal tip 60 33 occasional (7.5%) Occasional (29-5%) HP:0000456
11 omphalocele 33 HP:0001539
12 eyelid coloboma 33 HP:0000625
13 abnormal hair morphology 33 HP:0001595

Symptoms via clinical synopsis from OMIM:

58
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

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 30 FREM1

Anatomical Context for Manitoba Oculotrichoanal Syndrome

MalaCards organs/tissues related to Manitoba Oculotrichoanal Syndrome:

42
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-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1. ( 21507892 )
2011
3
Manitoba Oculotrichoanal (MOTA) syndrome: report of eight new cases. ( 17352387 )
2007
4
Micro-ablepharon of the upper eyelids and vaginal atresia. ( 11332973 )
2001

Variations for Manitoba Oculotrichoanal Syndrome

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

76
# 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 340)
# 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 Benign/Likely benign rs4741426 GRCh37 Chromosome 9, 14747412: 14747412
18 FREM1 NM_144966.5(FREM1): c.5859T> C (p.Val1953=) single nucleotide variant Benign/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 Benign/Likely benign rs2131880 GRCh38 Chromosome 9, 14776029: 14776029
28 FREM1 NM_144966.5(FREM1): c.4617G> A (p.Ala1539=) single nucleotide variant Benign/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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