MOTA
MCID: MNT006
MIFTS: 38

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 56 52 25 58 73 36 13 39
Marles Syndrome 56 52 25 58 73
Oculotrichoanal Syndrome 52 58 29 6
Marles-Greenberg-Persaud Syndrome 52 25 58
Mota 56 25 73
Marles Greenberg Persaud Syndrome 25 71
Mota Syndrome 52 58
Unilateral Upper Eyelid Coloboma, Aberrant Anterior Hairline Pattern, and Anal Anomalies 52
Manitoba Trichoanal Syndrome 52

Characteristics:

Orphanet epidemiological data:

58
oculotrichoanal syndrome
Inheritance: Autosomal recessive;

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
manitoba oculotrichoanal syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 248450
KEGG 36 H00686
MeSH 43 D005124
ICD10 via Orphanet 33 Q87.8
UMLS via Orphanet 72 C1855425
Orphanet 58 ORPHA2717
MedGen 41 C1855425
UMLS 71 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, kidney and skin, and related phenotypes are hypertelorism and abnormal hair pattern

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2717 Definition Oculotrichoanal 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 : 56 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 : 36 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 : 73 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 25)
# 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 liver cirrhosis 10.2
14 bifid nose 10.2
15 strabismus 10.1
16 chromosome 2q35 duplication syndrome 10.1
17 telecanthus 10.1
18 encephalopathy, progressive, with or without lipodystrophy 10.1
19 helix syndrome 10.1
20 partial cryptophthalmia 10.1
21 microphthalmia 10.1
22 anisometropia 10.1
23 mechanical strabismus 10.1
24 vaginal atresia 10.1
25 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:

58 31 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
2 abnormal hair pattern 58 31 hallmark (90%) Very frequent (99-80%) HP:0010720
3 upper eyelid coloboma 58 31 hallmark (90%) Very frequent (99-80%) HP:0000636
4 nasolacrimal duct obstruction 58 31 frequent (33%) Frequent (79-30%) HP:0000579
5 anteriorly placed anus 58 31 frequent (33%) Frequent (79-30%) HP:0001545
6 anal stenosis 58 31 frequent (33%) Frequent (79-30%) HP:0002025
7 anophthalmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000528
8 microphthalmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000568
9 cryptophthalmos 58 31 occasional (7.5%) Occasional (29-5%) HP:0001126
10 bifid nasal tip 58 31 occasional (7.5%) Occasional (29-5%) HP:0000456
11 omphalocele 31 HP:0001539
12 abnormal hair morphology 31 HP:0001595
13 eyelid coloboma 31 HP:0000625

Symptoms via clinical synopsis from OMIM:

56
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 Oculotrichoanal Syndrome 29 FREM1

Anatomical Context for Manitoba Oculotrichoanal Syndrome

MalaCards organs/tissues related to Manitoba Oculotrichoanal Syndrome:

40
Eye, Kidney, Skin

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. 56 6
21507892 2011
2
Manitoba Oculotrichoanal (MOTA) syndrome: report of eight new cases. 56 6
17352387 2007
3
Micro-ablepharon of the upper eyelids and vaginal atresia. 6 56
11332973 2001
4
Familial upper eyelid coloboma with ipsilateral anterior hairline abnormality: two new reports of MOTA syndrome. 56 61
19291776 2009
5
Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome. 61 56
16894541 2006
6
FREM1 Autosomal Recessive Disorders 6
20301721 2008
7
New familial syndrome of unilateral upper eyelid coloboma, aberrant anterior hairline pattern, and anal anomalies in Manitoba Indians. 56
1554017 1992
8
Anatomical classification facial, cranio-facial and latero-facial clefts. 56
820824 1976
9
A homozygous mutation p.Arg2167Trp in FREM2 causes isolated cryptophthalmos. 61
29688405 2018
10
A wedge-shaped anterior hairline extension associated with a tessier number 10 cleft. 61
23197915 2012
11
Evidence for additional FREM1 heterogeneity in Manitoba oculotrichoanal syndrome. 61
22690109 2012

Variations for Manitoba Oculotrichoanal Syndrome

ClinVar genetic disease variations for Manitoba Oculotrichoanal Syndrome:

6 (show top 50) (show all 281) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FREM1 FREM1, VAL209ILEundetermined variant Pathogenic 30765
2 FREM1 NG_017005.2:g.64585_124811deldeletion Pathogenic 30762 9:14790424-14850650 9:14790426-14850652
3 FREM1 NM_144966.5(FREM1):c.2097_2100del (p.Lys699fs)deletion Pathogenic 30763 9:14824092-14824095 9:14824094-14824097
4 FREM1 NM_144966.5(FREM1):c.3971T>G (p.Leu1324Arg)SNV Likely pathogenic 30764 rs281875281 9:14792751-14792751 9:14792753-14792753
5 FREM1 NM_144966.5(FREM1):c.3147C>T (p.Ser1049=)SNV Conflicting interpretations of pathogenicity 194992 rs200894045 9:14806786-14806786 9:14806788-14806788
6 FREM1 NM_144966.5(FREM1):c.1493G>A (p.Arg498Gln)SNV Conflicting interpretations of pathogenicity 30767 rs184394424 9:14842559-14842559 9:14842561-14842561
7 FREM1 NM_144966.5(FREM1):c.1394G>C (p.Gly465Ala)SNV Conflicting interpretations of pathogenicity 218939 rs41298151 9:14842658-14842658 9:14842660-14842660
8 FREM1 NM_144966.5(FREM1):c.571G>A (p.Gly191Arg)SNV Conflicting interpretations of pathogenicity 197872 rs370556388 9:14859241-14859241 9:14859243-14859243
9 FREM1 NM_144966.5(FREM1):c.3932T>C (p.Ile1311Thr)SNV Conflicting interpretations of pathogenicity 289292 rs182527895 9:14792790-14792790 9:14792792-14792792
10 FREM1 NM_144966.5(FREM1):c.6231G>T (p.Ala2077=)SNV Conflicting interpretations of pathogenicity 715848 9:14746374-14746374 9:14746376-14746376
11 FREM1 NM_144966.5(FREM1):c.3874C>T (p.Arg1292Cys)SNV Conflicting interpretations of pathogenicity 708381 9:14792848-14792848 9:14792850-14792850
12 FREM1 NM_144966.5(FREM1):c.3331C>T (p.His1111Tyr)SNV Conflicting interpretations of pathogenicity 721079 9:14805094-14805094 9:14805096-14805096
13 FREM1 NM_144966.5(FREM1):c.6258C>T (p.Tyr2086=)SNV Conflicting interpretations of pathogenicity 730988 9:14740229-14740229 9:14740231-14740231
14 FREM1 NM_144966.5(FREM1):c.4945A>G (p.Ile1649Val)SNV Conflicting interpretations of pathogenicity 729685 9:14770717-14770717 9:14770719-14770719
15 FREM1 NM_144966.5(FREM1):c.5448C>T (p.Asp1816=)SNV Conflicting interpretations of pathogenicity 738523 9:14750234-14750234 9:14750236-14750236
16 FREM1 NM_144966.5(FREM1):c.5670T>C (p.Phe1890=)SNV Conflicting interpretations of pathogenicity 795128 9:14748525-14748525 9:14748527-14748527
17 FREM1 NM_144966.5(FREM1):c.6465A>G (p.Gln2155=)SNV Conflicting interpretations of pathogenicity 366100 rs368790874 9:14737469-14737469 9:14737471-14737471
18 FREM1 NM_144966.5(FREM1):c.4754A>G (p.Asp1585Gly)SNV Conflicting interpretations of pathogenicity 366118 rs544905717 9:14775890-14775890 9:14775892-14775892
19 FREM1 NM_144966.5(FREM1):c.3802G>T (p.Val1268Phe)SNV Conflicting interpretations of pathogenicity 366130 rs554857144 9:14797533-14797533 9:14797535-14797535
20 FREM1 NM_144966.5(FREM1):c.2169+11A>CSNV Conflicting interpretations of pathogenicity 366150 rs377670533 9:14824012-14824012 9:14824014-14824014
21 FREM1 NM_144966.5(FREM1):c.3359A>T (p.Gln1120Leu)SNV Conflicting interpretations of pathogenicity 366135 rs143844459 9:14805066-14805066 9:14805068-14805068
22 FREM1 NM_144966.5(FREM1):c.2727C>T (p.Ile909=)SNV Uncertain significance 366141 rs750374714 9:14812976-14812976 9:14812978-14812978
23 FREM1 NM_144966.5(FREM1):c.2170C>T (p.His724Tyr)SNV Uncertain significance 366149 rs755724341 9:14823325-14823325 9:14823327-14823327
24 FREM1 NM_144966.5(FREM1):c.1119A>T (p.Pro373=)SNV Uncertain significance 366162 rs376047067 9:14851315-14851315 9:14851317-14851317
25 FREM1 NM_144966.5(FREM1):c.884C>T (p.Pro295Leu)SNV Uncertain significance 366164 rs886063771 9:14851550-14851550 9:14851552-14851552
26 FREM1 NM_144966.5(FREM1):c.553C>T (p.His185Tyr)SNV Uncertain significance 366168 rs764906137 9:14859259-14859259 9:14859261-14859261
27 FREM1 NM_144966.5(FREM1):c.100G>T (p.Val34Leu)SNV Uncertain significance 366176 rs749978636 9:14868876-14868876 9:14868878-14868878
28 FREM1 NM_144966.5(FREM1):c.-60A>TSNV Uncertain significance 366181 rs886063773 9:14869035-14869035 9:14869037-14869037
29 FREM1 NM_144966.5(FREM1):c.-149A>GSNV Uncertain significance 366183 rs560738143 9:14869124-14869124 9:14869126-14869126
30 FREM1 NM_144966.5(FREM1):c.-176A>TSNV Uncertain significance 366185 rs545619307 9:14869151-14869151 9:14869153-14869153
31 FREM1 NM_144966.5(FREM1):c.-285A>GSNV Uncertain significance 366187 rs886063774 9:14909929-14909929 9:14909931-14909931
32 FREM1 NM_144966.5(FREM1):c.-587G>TSNV Uncertain significance 366190 rs763817473 9:14910231-14910231 9:14910233-14910233
33 FREM1 NM_144966.5(FREM1):c.*1558C>GSNV Uncertain significance 366072 rs886063755 9:14735836-14735836 9:14735838-14735838
34 FREM1 NM_144966.5(FREM1):c.*1205T>CSNV Uncertain significance 366081 rs886063759 9:14736189-14736189 9:14736191-14736191
35 FREM1 NM_144966.5(FREM1):c.*1073G>ASNV Uncertain significance 366082 rs191843923 9:14736321-14736321 9:14736323-14736323
36 FREM1 NM_144966.5(FREM1):c.*456G>ASNV Uncertain significance 366090 rs886063760 9:14736938-14736938 9:14736940-14736940
37 FREM1 NM_144966.5(FREM1):c.*341dupduplication Uncertain significance 366093 rs886063762 9:14737052-14737053 9:14737054-14737055
38 FREM1 NM_144966.5(FREM1):c.4552G>T (p.Ala1518Ser)SNV Uncertain significance 366120 rs775792241 9:14776092-14776092 9:14776094-14776094
39 FREM1 NM_144966.5(FREM1):c.4001C>A (p.Pro1334His)SNV Uncertain significance 366125 rs886063768 9:14789093-14789093 9:14789095-14789095
40 FREM1 NM_144966.5(FREM1):c.2795G>A (p.Arg932His)SNV Uncertain significance 366139 rs763918482 9:14812908-14812908 9:14812910-14812910
41 FREM1 NM_144966.5(FREM1):c.2785G>T (p.Val929Leu)SNV Uncertain significance 366140 rs755700934 9:14812918-14812918 9:14812920-14812920
42 FREM1 NM_144966.5(FREM1):c.2420C>G (p.Thr807Ser)SNV Uncertain significance 366145 rs768631811 9:14819358-14819358 9:14819360-14819360
43 FREM1 NM_144966.5(FREM1):c.550G>A (p.Ala184Thr)SNV Uncertain significance 366169 rs199682518 9:14859262-14859262 9:14859264-14859264
44 FREM1 NM_144966.5(FREM1):c.533C>T (p.Ala178Val)SNV Uncertain significance 366170 rs201834847 9:14859279-14859279 9:14859281-14859281
45 FREM1 NM_144966.5(FREM1):c.-166G>ASNV Uncertain significance 366184 rs375737268 9:14869141-14869141 9:14869143-14869143
46 FREM1 NM_144966.5(FREM1):c.-582G>ASNV Uncertain significance 366189 rs538670769 9:14910226-14910226 9:14910228-14910228
47 FREM1 NM_144966.5(FREM1):c.3872C>G (p.Thr1291Ser)SNV Uncertain significance 366127 rs574640129 9:14792850-14792850 9:14792852-14792852
48 FREM1 NM_144966.5(FREM1):c.2113A>G (p.Ser705Gly)SNV Uncertain significance 366151 rs200490112 9:14824079-14824079 9:14824081-14824081
49 FREM1 NM_144966.5(FREM1):c.3756A>G (p.Gln1252=)SNV Uncertain significance 366131 rs373197206 9:14797579-14797579 9:14797581-14797581
50 FREM1 NM_144966.5(FREM1):c.*1209C>TSNV Uncertain significance 366080 rs886063758 9:14736185-14736185 9:14736187-14736187

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

73
# 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....