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 NM_144966.5(FREM1): c.-766A> C single nucleotide variant Likely benign rs139022146 GRCh38 Chromosome 9, 14910945: 14910945
2 FREM1 NM_144966.5(FREM1): c.-766A> C single nucleotide variant Likely benign rs139022146 GRCh37 Chromosome 9, 14910943: 14910943
3 FREM1 NM_144966.5(FREM1): c.-582G> A single nucleotide variant Uncertain significance rs538670769 GRCh38 Chromosome 9, 14910228: 14910228
4 FREM1 NM_144966.5(FREM1): c.-582G> A single nucleotide variant Uncertain significance rs538670769 GRCh37 Chromosome 9, 14910226: 14910226
5 FREM1 NM_144966.5(FREM1): c.-396C> T single nucleotide variant Uncertain significance rs143700147 GRCh38 Chromosome 9, 14910042: 14910042
6 FREM1 NM_144966.5(FREM1): c.-396C> T single nucleotide variant Uncertain significance rs143700147 GRCh37 Chromosome 9, 14910040: 14910040
7 FREM1 NM_144966.5(FREM1): c.-166G> A single nucleotide variant Uncertain significance rs375737268 GRCh38 Chromosome 9, 14869143: 14869143
8 FREM1 NM_144966.5(FREM1): c.-166G> A single nucleotide variant Uncertain significance rs375737268 GRCh37 Chromosome 9, 14869141: 14869141
9 FREM1 NM_144966.5(FREM1): c.-135G> C single nucleotide variant Benign rs12238629 GRCh37 Chromosome 9, 14869110: 14869110
10 FREM1 NM_144966.5(FREM1): c.-135G> C single nucleotide variant Benign rs12238629 GRCh38 Chromosome 9, 14869112: 14869112
11 FREM1 NM_144966.5(FREM1): c.456A> G (p.Gln152=) single nucleotide variant Benign rs10961757 GRCh37 Chromosome 9, 14859356: 14859356
12 FREM1 NM_144966.5(FREM1): c.456A> G (p.Gln152=) single nucleotide variant Benign rs10961757 GRCh38 Chromosome 9, 14859358: 14859358
13 FREM1 NM_144966.5(FREM1): c.533C> T (p.Ala178Val) single nucleotide variant Uncertain significance rs201834847 GRCh37 Chromosome 9, 14859279: 14859279
14 FREM1 NM_144966.5(FREM1): c.533C> T (p.Ala178Val) single nucleotide variant Uncertain significance rs201834847 GRCh38 Chromosome 9, 14859281: 14859281
15 FREM1 NM_144966.5(FREM1): c.550G> A (p.Ala184Thr) single nucleotide variant Uncertain significance rs199682518 GRCh37 Chromosome 9, 14859262: 14859262
16 FREM1 NM_144966.5(FREM1): c.550G> A (p.Ala184Thr) single nucleotide variant Uncertain significance rs199682518 GRCh38 Chromosome 9, 14859264: 14859264
17 FREM1 NM_144966.5(FREM1): c.1495A> G (p.Ile499Val) single nucleotide variant Likely benign rs1353223 GRCh38 Chromosome 9, 14842559: 14842559
18 FREM1 NM_144966.5(FREM1): c.1495A> G (p.Ile499Val) single nucleotide variant Likely benign rs1353223 GRCh37 Chromosome 9, 14842557: 14842557
19 FREM1 NM_144966.5(FREM1): c.2358A> G (p.Lys786=) single nucleotide variant Likely benign rs61745880 GRCh38 Chromosome 9, 14819422: 14819422
20 FREM1 NM_144966.5(FREM1): c.2358A> G (p.Lys786=) single nucleotide variant Likely benign rs61745880 GRCh37 Chromosome 9, 14819420: 14819420
21 FREM1 NM_144966.5(FREM1): c.2420C> G (p.Thr807Ser) single nucleotide variant Uncertain significance rs768631811 GRCh38 Chromosome 9, 14819360: 14819360
22 FREM1 NM_144966.5(FREM1): c.2420C> G (p.Thr807Ser) single nucleotide variant Uncertain significance rs768631811 GRCh37 Chromosome 9, 14819358: 14819358
23 FREM1 NM_144966.5(FREM1): c.2785G> T (p.Val929Leu) single nucleotide variant Uncertain significance rs755700934 GRCh38 Chromosome 9, 14812920: 14812920
24 FREM1 NM_144966.5(FREM1): c.2785G> T (p.Val929Leu) single nucleotide variant Uncertain significance rs755700934 GRCh37 Chromosome 9, 14812918: 14812918
25 FREM1 NM_144966.5(FREM1): c.2795G> A (p.Arg932His) single nucleotide variant Uncertain significance rs763918482 GRCh38 Chromosome 9, 14812910: 14812910
26 FREM1 NM_144966.5(FREM1): c.2795G> A (p.Arg932His) single nucleotide variant Uncertain significance rs763918482 GRCh37 Chromosome 9, 14812908: 14812908
27 FREM1 NM_144966.5(FREM1): c.3471+11T> C single nucleotide variant Benign rs72614223 GRCh37 Chromosome 9, 14804943: 14804943
28 FREM1 NM_144966.5(FREM1): c.3471+11T> C single nucleotide variant Benign rs72614223 GRCh38 Chromosome 9, 14804945: 14804945
29 FREM1 NM_144966.5(FREM1): c.3606C> G (p.Ser1202Arg) single nucleotide variant Benign rs16932300 GRCh37 Chromosome 9, 14801738: 14801738
30 FREM1 NM_144966.5(FREM1): c.3606C> G (p.Ser1202Arg) single nucleotide variant Benign rs16932300 GRCh38 Chromosome 9, 14801740: 14801740
31 FREM1 NM_144966.5(FREM1): c.4001C> A (p.Pro1334His) single nucleotide variant Uncertain significance rs886063768 GRCh37 Chromosome 9, 14789093: 14789093
32 FREM1 NM_144966.5(FREM1): c.4001C> A (p.Pro1334His) single nucleotide variant Uncertain significance rs886063768 GRCh38 Chromosome 9, 14789095: 14789095
33 FREM1 NM_144966.5(FREM1): c.4244C> G (p.Thr1415Ser) single nucleotide variant Likely benign rs75677527 GRCh37 Chromosome 9, 14784566: 14784566
34 FREM1 NM_144966.5(FREM1): c.4244C> G (p.Thr1415Ser) single nucleotide variant Likely benign rs75677527 GRCh38 Chromosome 9, 14784568: 14784568
35 FREM1 NM_144966.5(FREM1): c.4504G> A (p.Val1502Met) single nucleotide variant Likely benign rs10961700 GRCh37 Chromosome 9, 14776140: 14776140
36 FREM1 NM_144966.5(FREM1): c.4504G> A (p.Val1502Met) single nucleotide variant Likely benign rs10961700 GRCh38 Chromosome 9, 14776142: 14776142
37 FREM1 NM_144966.5(FREM1): c.4552G> T (p.Ala1518Ser) single nucleotide variant Uncertain significance rs775792241 GRCh37 Chromosome 9, 14776092: 14776092
38 FREM1 NM_144966.5(FREM1): c.4552G> T (p.Ala1518Ser) single nucleotide variant Uncertain significance rs775792241 GRCh38 Chromosome 9, 14776094: 14776094
39 FREM1 NM_144966.5(FREM1): c.5466T> C (p.Asp1822=) single nucleotide variant Uncertain significance rs61741992 GRCh38 Chromosome 9, 14750218: 14750218
40 FREM1 NM_144966.5(FREM1): c.5466T> C (p.Asp1822=) single nucleotide variant Uncertain significance rs61741992 GRCh37 Chromosome 9, 14750216: 14750216
41 FREM1 NM_144966.5(FREM1): c.6139-4T> A single nucleotide variant Uncertain significance rs77135480 GRCh38 Chromosome 9, 14746472: 14746472
42 FREM1 NM_144966.5(FREM1): c.6139-4T> A single nucleotide variant Uncertain significance rs77135480 GRCh37 Chromosome 9, 14746470: 14746470
43 FREM1 NM_144966.5(FREM1): c.*341dupA duplication Uncertain significance rs886063762 GRCh38 Chromosome 9, 14737055: 14737055
44 FREM1 NM_144966.5(FREM1): c.*341dupA duplication Uncertain significance rs886063762 GRCh37 Chromosome 9, 14737053: 14737053
45 FREM1 NM_144966.5(FREM1): c.*389T> C single nucleotide variant Uncertain significance rs73411798 GRCh37 Chromosome 9, 14737005: 14737005
46 FREM1 NM_144966.5(FREM1): c.*389T> C single nucleotide variant Uncertain significance rs73411798 GRCh38 Chromosome 9, 14737007: 14737007
47 FREM1 NM_144966.5(FREM1): c.*456G> A single nucleotide variant Uncertain significance rs886063760 GRCh37 Chromosome 9, 14736938: 14736938
48 FREM1 NM_144966.5(FREM1): c.*456G> A single nucleotide variant Uncertain significance rs886063760 GRCh38 Chromosome 9, 14736940: 14736940
49 FREM1 NM_144966.5(FREM1): c.*529C> T single nucleotide variant Likely benign rs79391133 GRCh37 Chromosome 9, 14736865: 14736865
50 FREM1 NM_144966.5(FREM1): c.*529C> T single nucleotide variant Likely benign rs79391133 GRCh38 Chromosome 9, 14736867: 14736867

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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