3MC1
MCID: 3MC002
MIFTS: 27

3mc Syndrome 1 (3MC1)

Categories: Eye diseases, Genetic diseases

Aliases & Classifications for 3mc Syndrome 1

MalaCards integrated aliases for 3mc Syndrome 1:

Name: 3mc Syndrome 1 58 12 76 13 17
Oculopalatoskeletal Syndrome 58 76 74
Craniosynostosis with Lid Anomalies 58 76
3mc1 58 76
Michels Syndrome, Formerly 58
3mc Syndrome, Type 1 41
Michels Syndrome 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
3mc syndrome 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for 3mc Syndrome 1

OMIM : 58 The term '3MC syndrome' encompasses 4 rare autosomal recessive disorders that were previously designated the Carnevale, Mingarelli, Malpuech, and Michels syndromes, respectively. The main features of these syndromes are facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis, and highly arched eyebrows, which are present in 70 to 95% of cases. Cleft lip and palate, postnatal growth deficiency, cognitive impairment, and hearing loss are also consistent findings, occurring in 40 to 68% of cases. Craniosynostosis, radioulnar synostosis, and genital and vesicorenal anomalies occur in 20 to 30% of cases. Rare features include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia (omphalocele), and diastasis recti (summary by Rooryck et al., 2011). (257920)

MalaCards based summary : 3mc Syndrome 1, also known as oculopalatoskeletal syndrome, is related to 3mc syndrome and 3mc syndrome 3. An important gene associated with 3mc Syndrome 1 is MASP1 (Mannan Binding Lectin Serine Peptidase 1). Affiliated tissues include eye and skin, and related phenotypes are hypertelorism and abnormality of eye movement

Disease Ontology : 12 A 3MC syndrome that has material basis in homozygous mutation in the MASP1 gene on chromosome 3q27.

UniProtKB/Swiss-Prot : 76 3MC syndrome 1: A form of 3MC syndrome, an autosomal recessive disorder characterized by facial dysmorphism, craniosynostosis, learning disability, and genital, limb and vesicorenal anomalies. Facial features include hypertelorism, blepharophimosis, blepharoptosis and highly arched eyebrows, cleft lip and/or palate. The term 3MC syndrome includes Carnevale, Mingarelli, Malpuech, and Michels syndromes.

Wikipedia : 77 Michels syndrome is a syndrome characterised by intellectual disability, craniosynostosis,... more...

Related Diseases for 3mc Syndrome 1

Diseases related to 3mc Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 3mc syndrome 11.4
2 3mc syndrome 3 11.1
3 3mc syndrome 2 11.1
4 craniosynostosis 9.9

Symptoms & Phenotypes for 3mc Syndrome 1

Human phenotypes related to 3mc Syndrome 1:

33 (show all 37)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 33 HP:0000316
2 abnormality of eye movement 33 HP:0000496
3 ptosis 33 HP:0000508
4 microcephaly 33 HP:0000252
5 intellectual disability, mild 33 HP:0001256
6 cleft palate 33 HP:0000175
7 patent ductus arteriosus 33 HP:0001643
8 short foot 33 HP:0001773
9 growth delay 33 HP:0001510
10 postnatal growth retardation 33 HP:0008897
11 atrial septal defect 33 HP:0001631
12 clinodactyly of the 5th finger 33 HP:0004209
13 coronal craniosynostosis 33 HP:0004440
14 conjunctival telangiectasia 33 HP:0000524
15 glaucoma 33 HP:0000501
16 dental crowding 33 HP:0000678
17 conductive hearing impairment 33 HP:0000405
18 ventricular septal defect 33 HP:0001629
19 blepharophimosis 33 HP:0000581
20 sacral dimple 33 HP:0000960
21 radioulnar synostosis 33 HP:0002974
22 spina bifida occulta 33 HP:0003298
23 highly arched eyebrow 33 HP:0002553
24 wide anterior fontanel 33 HP:0000260
25 cleft upper lip 33 HP:0000204
26 hydronephrosis 33 HP:0000126
27 omphalocele 33 HP:0001539
28 underdeveloped supraorbital ridges 33 HP:0009891
29 supernumerary nipple 33 HP:0002558
30 broad foot 33 HP:0001769
31 short 5th finger 33 HP:0009237
32 epicanthus inversus 33 HP:0000537
33 caudal appendage 33 HP:0002825
34 lambdoidal craniosynostosis 33 HP:0004443
35 skull asymmetry 33 HP:0002678
36 single interphalangeal crease of fifth finger 33 HP:0006216
37 abnormal anterior chamber morphology 33 HP:0000593

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
conjunctival telangiectasia
glaucoma
blepharophimosis
epicanthus inversus
more
Head And Neck Mouth:
cleft palate
cleft lip

Growth Other:
postnatal growth retardation

Skin Nails Hair Skin:
sacral dimple
caudal appendage (sacral cyst)

Skeletal Spine:
spina bifida occulta

Abdomen External Features:
omphalocele
periumbilical depression

Head And Neck Ears:
hearing loss, conductive

Skeletal Feet:
short, broad feet

Head And Neck Face:
hypoplastic supraorbital ridges

Skeletal Skull:
craniosynostosis (lambdoid and coronal sutures)
skull asymmetry

Head And Neck Head:
microcephaly
large anterior fontanel

Cardiovascular Heart:
patent ductus arteriosus
atrial septal defect
ventricular septal defect

Head And Neck Teeth:
dental crowding

Skeletal Limbs:
radioulnar synostosis

Genitourinary Kidneys:
hydronephrosis

Skeletal Hands:
fifth finger clinodactyly
short fifth finger
fifth finger single interphalangeal crease

Neurologic Central Nervous System:
mental retardation, mild

Chest Breasts:
accessory nipple

Chest External Features:
skin tag at xiphoid process

Clinical features from OMIM:

257920

Drugs & Therapeutics for 3mc Syndrome 1

Search Clinical Trials , NIH Clinical Center for 3mc Syndrome 1

Genetic Tests for 3mc Syndrome 1

Anatomical Context for 3mc Syndrome 1

MalaCards organs/tissues related to 3mc Syndrome 1:

42
Eye, Skin

Publications for 3mc Syndrome 1

Articles related to 3mc Syndrome 1:

# Title Authors Year
1
Michels syndrome: the first case report from India and review of literature. ( 25370402 )
2014
2
Mannan-binding lectin-associated serine protease (MASP)-1 is crucial for lectin pathway activation in human serum, whereas neither MASP-1 nor MASP-3 is required for alternative pathway function. ( 22966085 )
2012
3
Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome. ( 21258343 )
2011
4
MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes. ( 21035106 )
2010
5
Blepharophimosis, blepharoptosis, defects of the anterior chamber of the eye, caudal appendage, radioulnar synostosis, hearing loss and umbilical anomalies in sibs: 3MC syndrome? ( 18266249 )
2008
6
Three additional cases of the Michels syndrome. ( 17937425 )
2007
7
Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: variable expression of a single disorder (3MC syndrome)? ( 16096999 )
2005
8
Michels syndrome in a Brazilian girl born to consanguineous parents. ( 7677137 )
1995
9
Anterior segment anomalies of the eye, clefting and skeletal abnormalities in two sibs of consanguineous parents: Michels syndrome or new syndrome? ( 7981860 )
1994
10
Craniosynostosis and lid anomalies: report of a girl with Michels syndrome. ( 2240039 )
1990

Variations for 3mc Syndrome 1

ClinVar genetic disease variations for 3mc Syndrome 1:

6 (show all 31)
# Gene Variation Type Significance SNP ID Assembly Location
1 MASP1 NM_139125.3(MASP1): c.1489C> T (p.His497Tyr) single nucleotide variant Pathogenic rs387906752 GRCh37 Chromosome 3, 186954170: 186954170
2 MASP1 NM_139125.3(MASP1): c.1489C> T (p.His497Tyr) single nucleotide variant Pathogenic rs387906752 GRCh38 Chromosome 3, 187236382: 187236382
3 MASP1 NM_139125.3(MASP1): c.1888T> C (p.Cys630Arg) single nucleotide variant Pathogenic rs387906753 GRCh37 Chromosome 3, 186953771: 186953771
4 MASP1 NM_139125.3(MASP1): c.1888T> C (p.Cys630Arg) single nucleotide variant Pathogenic rs387906753 GRCh38 Chromosome 3, 187235983: 187235983
5 MASP1 NM_139125.3(MASP1): c.1997G> A (p.Gly666Glu) single nucleotide variant Pathogenic rs387906754 GRCh37 Chromosome 3, 186953662: 186953662
6 MASP1 NM_139125.3(MASP1): c.1997G> A (p.Gly666Glu) single nucleotide variant Pathogenic rs387906754 GRCh38 Chromosome 3, 187235874: 187235874
7 MASP1 NM_139125.3(MASP1): c.2059G> A (p.Gly687Arg) single nucleotide variant Pathogenic GRCh37 Chromosome 3, 186953600: 186953600
8 MASP1 NM_139125.3(MASP1): c.2059G> A (p.Gly687Arg) single nucleotide variant Pathogenic GRCh38 Chromosome 3, 187235812: 187235812
9 MASP1 NM_139125.3(MASP1): c.870G> A (p.Trp290Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 3, 187253190: 187253190
10 MASP1 NM_139125.3(MASP1): c.870G> A (p.Trp290Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 3, 186970978: 186970978
11 MASP1 NM_139125.3(MASP1): c.2034G> A (p.Trp678Ter) single nucleotide variant Uncertain significance rs1085307080 GRCh37 Chromosome 3, 186953625: 186953625
12 MASP1 NM_139125.3(MASP1): c.2034G> A (p.Trp678Ter) single nucleotide variant Uncertain significance rs1085307080 GRCh38 Chromosome 3, 187235837: 187235837
13 MASP1 NM_139125.3(MASP1): c.1746G> A (p.Pro582=) single nucleotide variant Benign rs3821805 GRCh37 Chromosome 3, 186953913: 186953913
14 MASP1 NM_139125.3(MASP1): c.1746G> A (p.Pro582=) single nucleotide variant Benign rs3821805 GRCh38 Chromosome 3, 187236125: 187236125
15 MASP1 NM_001879.5(MASP1): c.863G> A (p.Arg288Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs116001173 GRCh37 Chromosome 3, 186970985: 186970985
16 MASP1 NM_001879.5(MASP1): c.863G> A (p.Arg288Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs116001173 GRCh38 Chromosome 3, 187253197: 187253197
17 MASP1 NM_139125.3(MASP1): c.1277G> A (p.Gly426Glu) single nucleotide variant Benign rs28945068 GRCh38 Chromosome 3, 187241507: 187241507
18 MASP1 NM_139125.3(MASP1): c.1277G> A (p.Gly426Glu) single nucleotide variant Benign rs28945068 GRCh37 Chromosome 3, 186959295: 186959295
19 MASP1 NM_139125.3(MASP1): c.1187C> T (p.Ser396Phe) single nucleotide variant Uncertain significance rs199907557 GRCh38 Chromosome 3, 187243525: 187243525
20 MASP1 NM_139125.3(MASP1): c.1187C> T (p.Ser396Phe) single nucleotide variant Uncertain significance rs199907557 GRCh37 Chromosome 3, 186961313: 186961313
21 MASP1 NM_139125.3(MASP1): c.1386G> A (p.Pro462=) single nucleotide variant Benign rs35384947 GRCh38 Chromosome 3, 187236485: 187236485
22 MASP1 NM_139125.3(MASP1): c.1386G> A (p.Pro462=) single nucleotide variant Benign rs35384947 GRCh37 Chromosome 3, 186954273: 186954273
23 covers 16 genes, none of which curated to show dosage sensitivity NC_000003.11: g.(?_186256465)_(186980528_?)del deletion Likely pathogenic GRCh37 Chromosome 3, 186256465: 186980528
24 MASP1 NM_139125.3(MASP1): c.1062G> A (p.Thr354=) single nucleotide variant Benign rs116763673 GRCh37 Chromosome 3, 186968067: 186968067
25 MASP1 NM_139125.3(MASP1): c.1062G> A (p.Thr354=) single nucleotide variant Benign rs116763673 GRCh38 Chromosome 3, 187250279: 187250279
26 MASP1 NM_139125.3(MASP1): c.417T> C (p.Asp139=) single nucleotide variant Benign rs72549252 GRCh37 Chromosome 3, 186978659: 186978659
27 MASP1 NM_139125.3(MASP1): c.417T> C (p.Asp139=) single nucleotide variant Benign rs72549252 GRCh38 Chromosome 3, 187260871: 187260871
28 MASP1 NM_139125.3(MASP1): c.812dup (p.Ser272Glufs) duplication Pathogenic GRCh37 Chromosome 3, 186971036: 186971036
29 MASP1 NM_139125.3(MASP1): c.812dup (p.Ser272Glufs) duplication Pathogenic GRCh38 Chromosome 3, 187253248: 187253248
30 MASP1 NM_001879.5(MASP1): c.1442-5C> G single nucleotide variant Uncertain significance GRCh37 Chromosome 3, 186944313: 186944313
31 MASP1 NM_001879.5(MASP1): c.1442-5C> G single nucleotide variant Uncertain significance GRCh38 Chromosome 3, 187226525: 187226525

Expression for 3mc Syndrome 1

Search GEO for disease gene expression data for 3mc Syndrome 1.

Pathways for 3mc Syndrome 1

GO Terms for 3mc Syndrome 1

Sources for 3mc Syndrome 1

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75 UMLS via Orphanet
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