MOTA
MCID: MNT006
MIFTS: 37

Manitoba Oculotrichoanal Syndrome (MOTA)

Categories: Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Rare diseases, Smell/Taste diseases

Aliases & Classifications for Manitoba Oculotrichoanal Syndrome

MalaCards integrated aliases for Manitoba Oculotrichoanal Syndrome:

Name: Manitoba Oculotrichoanal Syndrome 57 53 25 59 74 37 13 40
Marles Syndrome 57 53 25 59 74
Marles Greenberg Persaud Syndrome 25 29 6 72
Marles-Greenberg-Persaud Syndrome 53 25 59
Mota 57 25 74
Oculotrichoanal Syndrome 53 59
Mota 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
KEGG 37 H00686
MeSH 44 D005124
ICD10 via Orphanet 34 Q87.8
UMLS via Orphanet 73 C1855425
Orphanet 59 ORPHA2717
MedGen 42 C1855425
UMLS 72 C1855425

Summaries for Manitoba Oculotrichoanal Syndrome

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). People with Manitoba oculotrichoanal syndrome have widely spaced eyes (hypertelorism). They may also have other eye abnormalities including small eyes (microphthalmia), a notched or partially absent upper eyelid (upper eyelid coloboma), eyelids that are attached to the front surface of the eye (corneopalpebral synechiae), or eyes that are completely covered by skin and usually malformed (cryptophthalmos). These abnormalities may affect one or both eyes. Individuals with Manitoba oculotrichoanal syndrome usually have abnormalities of the front hairline, such as hair growth extending from the temple to the eye on one or both sides of the face. One or both eyebrows may be completely or partially missing. Most people with this disorder also have a wide nose with a notched tip; in some cases this notch extends up from the tip so that the nose appears to be divided into two halves (bifid nose). About 20 percent of people with Manitoba oculotrichoanal syndrome have defects in the abdominal wall, such as a soft out-pouching around the belly-button (an umbilical hernia) or an opening in the wall of the abdomen (an omphalocele) that allows the abdominal organs to protrude through the navel. Another characteristic feature of Manitoba oculotrichoanal syndrome is a narrow anus (anal stenosis) or an anal opening farther forward than usual. Umbilical wall defects or anal malformations may require surgical correction. Some affected individuals also have malformations of the kidneys. The severity of the features of Manitoba oculotrichoanal syndrome may vary even within the same family. With appropriate treatment, affected individuals generally have normal growth and development, intelligence, and life expectancy.

MalaCards based summary : Manitoba Oculotrichoanal Syndrome, also known as marles syndrome, is related to hypertelorism and fraser syndrome 1. An important gene associated with Manitoba Oculotrichoanal Syndrome is FREM1 (FRAS1 Related Extracellular Matrix 1). Affiliated tissues include eye, skin and kidney, and related phenotypes are hypertelorism and abnormal hair pattern

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2717DefinitionOculotrichoanal 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.

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)

KEGG : 37
Manitoba oculotrichoanal (MOTA) syndrome is a rare condition characterized by aberrant anterior hairline, upper-eyelid colobomas, hypertelorism, cryptophthalmos, a bifid or notched nose, and anal anomalies. MOTA syndrome is inherited in an autosomal recessive manner.

UniProtKB/Swiss-Prot : 74 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:

(show all 23)
# Related Disease Score Top Affiliating Genes
1 hypertelorism 10.4
2 fraser syndrome 1 10.4
3 frem1 autosomal recessive disorders 10.4
4 autosomal recessive disease 10.3
5 cryptophthalmos 10.3
6 coloboma of macula 10.2
7 renal hypodysplasia/aplasia 1 10.2
8 fryns microphthalmia syndrome 10.2
9 bifid nose with or without anorectal and renal anomalies 10.2
10 omphalocele 10.2
11 suppression amblyopia 10.2
12 amblyopia 10.2
13 bifid nose 10.2
14 strabismus 10.1
15 chromosome 2q35 duplication syndrome 10.1
16 telecanthus 10.1
17 encephalopathy, progressive, with or without lipodystrophy 10.1
18 helix syndrome 10.1
19 microphthalmia 10.1
20 anisometropia 10.1
21 mechanical strabismus 10.1
22 vaginal atresia 10.1
23 renal dysplasia 10.1

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:

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 abnormal hair pattern 59 32 hallmark (90%) Very frequent (99-80%) HP:0010720
3 upper eyelid coloboma 59 32 hallmark (90%) Very frequent (99-80%) HP:0000636
4 nasolacrimal duct obstruction 59 32 frequent (33%) Frequent (79-30%) HP:0000579
5 anteriorly placed anus 59 32 frequent (33%) Frequent (79-30%) HP:0001545
6 anal stenosis 59 32 frequent (33%) Frequent (79-30%) HP:0002025
7 microphthalmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000568
8 anophthalmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000528
9 cryptophthalmos 59 32 occasional (7.5%) Occasional (29-5%) HP:0001126
10 bifid nasal tip 59 32 occasional (7.5%) Occasional (29-5%) HP:0000456
11 omphalocele 32 HP:0001539
12 abnormal hair morphology 32 HP:0001595
13 eyelid coloboma 32 HP:0000625

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

Drugs & Therapeutics for Manitoba Oculotrichoanal Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Transcranial Direct Current Stimulation in Rehabilitation of Chronic Stroke Patients: Multicenter Clinical Trial Unknown status NCT02166619 Phase 2
2 The Impact of an Intervention Taught by Trained Teachers on Childhood BMI z Score Completed NCT01397123
3 Evaluation of the Treatment of Halitosis With Photodynamic Therapy in Older Patients With Complete Denture: Protocol for a Randomized, Controlled Trial Not yet recruiting NCT03960983

Search 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, Skin, Kidney

Publications for Manitoba Oculotrichoanal Syndrome

Articles related to Manitoba Oculotrichoanal Syndrome:

(show all 11)
# Title Authors PMID Year
1
Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1. 8 71
21507892 2011
2
Manitoba Oculotrichoanal (MOTA) syndrome: report of eight new cases. 8 71
17352387 2007
3
Micro-ablepharon of the upper eyelids and vaginal atresia. 8 71
11332973 2001
4
Familial upper eyelid coloboma with ipsilateral anterior hairline abnormality: two new reports of MOTA syndrome. 38 8
19291776 2009
5
Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome. 38 8
16894541 2006
6
FREM1 Autosomal Recessive Disorders 71
20301721 2008
7
New familial syndrome of unilateral upper eyelid coloboma, aberrant anterior hairline pattern, and anal anomalies in Manitoba Indians. 8
1554017 1992
8
Anatomical classification facial, cranio-facial and latero-facial clefts. 8
820824 1976
9
A homozygous mutation p.Arg2167Trp in FREM2 causes isolated cryptophthalmos. 38
29688405 2018
10
A wedge-shaped anterior hairline extension associated with a tessier number 10 cleft. 38
23197915 2012
11
Evidence for additional FREM1 heterogeneity in Manitoba oculotrichoanal syndrome. 38
22690109 2012

Variations for Manitoba Oculotrichoanal Syndrome

ClinVar genetic disease variations for Manitoba Oculotrichoanal Syndrome:

6 (show top 50) (show all 172)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 FREM1 NG_017005.2: g.64585_124811del deletion Pathogenic 9:14790424-14850650 9:14790426-14850652
2 FREM1 FREM1, 4-BP DEL, 2097ATTA deletion Pathogenic
3 FREM1 FREM1, VAL209ILE undetermined variant Pathogenic
4 FREM1 NM_144966.5(FREM1): c.3971T> G (p.Leu1324Arg) single nucleotide variant Likely pathogenic rs281875281 9:14792751-14792751 9:14792753-14792753
5 FREM1 NM_144966.5(FREM1): c.1394G> C (p.Gly465Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs41298151 9:14842658-14842658 9:14842660-14842660
6 FREM1 NM_144966.5(FREM1): c.1464C> T (p.Ser488=) single nucleotide variant Conflicting interpretations of pathogenicity rs200064797 9:14842588-14842588 9:14842590-14842590
7 FREM1 NM_144966.5(FREM1): c.4466G> A (p.Arg1489Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs61732355 9:14776178-14776178 9:14776180-14776180
8 FREM1 NM_144966.5(FREM1): c.4711G> A (p.Asp1571Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs115421185 9:14775933-14775933 9:14775935-14775935
9 FREM1 NM_144966.5(FREM1): c.2169+11A> C single nucleotide variant Conflicting interpretations of pathogenicity rs377670533 9:14824012-14824012 9:14824014-14824014
10 FREM1 NM_144966.5(FREM1): c.2113A> G (p.Ser705Gly) single nucleotide variant Uncertain significance rs200490112 9:14824079-14824079 9:14824081-14824081
11 FREM1 NM_144966.5(FREM1): c.3359A> T (p.Gln1120Leu) single nucleotide variant Uncertain significance rs143844459 9:14805066-14805066 9:14805068-14805068
12 FREM1 NM_144966.5(FREM1): c.2727C> T (p.Ile909=) single nucleotide variant Uncertain significance rs750374714 9:14812976-14812976 9:14812978-14812978
13 FREM1 NM_144966.5(FREM1): c.2170C> T (p.His724Tyr) single nucleotide variant Uncertain significance rs755724341 9:14823325-14823325 9:14823327-14823327
14 FREM1 NM_144966.5(FREM1): c.1119A> T (p.Pro373=) single nucleotide variant Uncertain significance rs376047067 9:14851315-14851315 9:14851317-14851317
15 FREM1 NM_144966.5(FREM1): c.884C> T (p.Pro295Leu) single nucleotide variant Uncertain significance rs886063771 9:14851550-14851550 9:14851552-14851552
16 FREM1 NM_144966.5(FREM1): c.553C> T (p.His185Tyr) single nucleotide variant Uncertain significance rs764906137 9:14859259-14859259 9:14859261-14859261
17 FREM1 NM_144966.5(FREM1): c.-60A> T single nucleotide variant Uncertain significance rs886063773 9:14869035-14869035 9:14869037-14869037
18 FREM1 NM_144966.5(FREM1): c.-149A> G single nucleotide variant Uncertain significance rs560738143 9:14869124-14869124 9:14869126-14869126
19 FREM1 NM_144966.5(FREM1): c.-176A> T single nucleotide variant Uncertain significance rs545619307 9:14869151-14869151 9:14869153-14869153
20 FREM1 NM_144966.5(FREM1): c.-285A> G single nucleotide variant Uncertain significance rs886063774 9:14909929-14909929 9:14909931-14909931
21 FREM1 NM_144966.5(FREM1): c.-587G> T single nucleotide variant Uncertain significance rs763817473 9:14910231-14910231 9:14910233-14910233
22 FREM1 NM_144966.5(FREM1): c.*2664A> G single nucleotide variant Uncertain significance rs534652522 9:14734730-14734730 9:14734732-14734732
23 FREM1 NM_144966.5(FREM1): c.100G> T (p.Val34Leu) single nucleotide variant Uncertain significance rs749978636 9:14868876-14868876 9:14868878-14868878
24 FREM1 NM_144966.5(FREM1): c.*1558C> G single nucleotide variant Uncertain significance rs886063755 9:14735836-14735836 9:14735838-14735838
25 FREM1 NM_144966.5(FREM1): c.*1205T> C single nucleotide variant Uncertain significance rs886063759 9:14736189-14736189 9:14736191-14736191
26 FREM1 NM_144966.5(FREM1): c.*1073G> A single nucleotide variant Uncertain significance rs191843923 9:14736321-14736321 9:14736323-14736323
27 FREM1 NM_144966.5(FREM1): c.*456G> A single nucleotide variant Uncertain significance rs886063760 9:14736938-14736938 9:14736940-14736940
28 FREM1 NM_144966.5(FREM1): c.*389T> C single nucleotide variant Uncertain significance rs73411798 9:14737005-14737005 9:14737007-14737007
29 FREM1 NM_144966.5(FREM1): c.*341dup duplication Uncertain significance rs886063762 9:14737053-14737053 9:14737055-14737055
30 FREM1 NM_144966.5(FREM1): c.6139-4T> A single nucleotide variant Uncertain significance rs77135480 9:14746470-14746470 9:14746472-14746472
31 FREM1 NM_144966.5(FREM1): c.5466T> C (p.Asp1822=) single nucleotide variant Uncertain significance rs61741992 9:14750216-14750216 9:14750218-14750218
32 FREM1 NM_144966.5(FREM1): c.4552G> T (p.Ala1518Ser) single nucleotide variant Uncertain significance rs775792241 9:14776092-14776092 9:14776094-14776094
33 FREM1 NM_144966.5(FREM1): c.*1394A> T single nucleotide variant Uncertain significance rs886063756 9:14736000-14736000 9:14736002-14736002
34 FREM1 NM_144966.5(FREM1): c.*1258G> A single nucleotide variant Uncertain significance rs886063757 9:14736136-14736136 9:14736138-14736138
35 FREM1 NM_144966.5(FREM1): c.*530T> C single nucleotide variant Uncertain significance rs570855729 9:14736864-14736864 9:14736866-14736866
36 FREM1 NM_144966.5(FREM1): c.*10A> T single nucleotide variant Uncertain significance rs771433308 9:14737384-14737384 9:14737386-14737386
37 FREM1 NM_144966.5(FREM1): c.6465A> G (p.Gln2155=) single nucleotide variant Uncertain significance rs368790874 9:14737469-14737469 9:14737471-14737471
38 FREM1 NM_144966.5(FREM1): c.6454G> A (p.Val2152Ile) single nucleotide variant Uncertain significance rs886063764 9:14737480-14737480 9:14737482-14737482
39 FREM1 NM_144966.5(FREM1): c.5956C> T (p.Leu1986=) single nucleotide variant Uncertain significance rs375669260 9:14747315-14747315 9:14747317-14747317
40 FREM1 NM_144966.5(FREM1): c.4875A> C (p.Lys1625Asn) single nucleotide variant Uncertain significance rs117881664 9:14770787-14770787 9:14770789-14770789
41 FREM1 NM_144966.5(FREM1): c.*1788C> G single nucleotide variant Uncertain significance rs138214905 9:14735606-14735606 9:14735608-14735608
42 FREM1 NM_144966.5(FREM1): c.3904A> G (p.Ile1302Val) single nucleotide variant Uncertain significance rs577186728 9:14792818-14792818 9:14792820-14792820
43 FREM1 NM_144966.5(FREM1): c.3840-3C> T single nucleotide variant Uncertain significance rs751553817 9:14792885-14792885 9:14792887-14792887
44 FREM1 NM_144966.5(FREM1): c.1640C> G (p.Ala547Gly) single nucleotide variant Uncertain significance rs201056172 9:14842412-14842412 9:14842414-14842414
45 FREM1 NM_144966.5(FREM1): c.1165G> T (p.Val389Leu) single nucleotide variant Uncertain significance rs370159965 9:14848759-14848759 9:14848761-14848761
46 FREM1 NM_144966.5(FREM1): c.8C> T (p.Ser3Phe) single nucleotide variant Uncertain significance rs201217735 9:14868968-14868968 9:14868970-14868970
47 FREM1 NM_144966.5(FREM1): c.2640+4G> A single nucleotide variant Uncertain significance rs886063769 9:14816772-14816772 9:14816774-14816774
48 FREM1 NM_144966.5(FREM1): c.*2125del deletion Uncertain significance rs769884958 9:14735269-14735269 9:14735271-14735271
49 FREM1 NM_144966.5(FREM1): c.*1772C> T single nucleotide variant Uncertain significance rs886063754 9:14735622-14735622 9:14735624-14735624
50 FREM1 NM_144966.5(FREM1): c.*1376G> T single nucleotide variant Uncertain significance rs150510806 9:14736018-14736018 9:14736020-14736020

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

74
# Symbol AA change Variation ID SNP ID
1 FREM1 p.Leu1324Arg VAR_066412 rs281875281
2 FREM1 p.Val2091Ile VAR_066413 rs281875282

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
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
Content
Loading form....