MCID: 3MC003
MIFTS: 42

3mc Syndrome

Categories: Rare diseases, Eye diseases, Bone diseases, Nephrological diseases

Aliases & Classifications for 3mc Syndrome

MalaCards integrated aliases for 3mc Syndrome:

Name: 3mc Syndrome 12 53 25 37 15
Malpuech Facial Clefting Syndrome 25 29 6 73
Carnevale Syndrome 25 29 6 73
Craniofacial-Ulnar-Renal Syndrome 12 53 25
Oculopalatoskeletal Syndrome 12 25 73
Michels Syndrome 25 29 6
Ptosis of Eyelids with Diastasis Recti and Hip Dysplasia 25
Malpuech-Michels-Mingarelli-Carnevale Syndrome 53
Ptosis-Strabismus-Rectus Addominis Diastasis 25
Carnevale-Krajewska-Fischetto Syndrome 25
Craniosynostosis with Lid Anomalies 25
Oculo-Skeletal-Abdominal Syndrome 25
Mingarelli Syndrome 25
Malpuech Syndrome 25
Osa Syndrome 25

Classifications:



Summaries for 3mc Syndrome

Disease Ontology : 12 A syndrome characterized by blepharophimosis, blepharoptosis, highly arched eyebrows hypertelorism, cleft lip and palate, postnatal growth deficiency, cognitive impairment, hearing loss and, in a smaller percentage of cases, craniosynostosis, radioulnar synostosis and genital and vesicorenal anomalies. It encompasses four disorders that were previously designated the Malpuech, Michels, Mingarelli and Carnevale syndromes.

MalaCards based summary : 3mc Syndrome, also known as malpuech facial clefting syndrome, is related to 3mc syndrome 2 and 3mc syndrome 1, and has symptoms including torticollis An important gene associated with 3mc Syndrome is COLEC11 (Collectin Subfamily Member 11), and among its related pathways/superpathways are Complement and coagulation cascades and Innate Immune System. Affiliated tissues include bone and eye, and related phenotypes are oral cleft and hypertelorism

Genetics Home Reference : 25 3MC syndrome is a disorder characterized by unusual facial features and problems affecting other tissues and organs of the body.

Related Diseases for 3mc Syndrome

Graphical network of the top 20 diseases related to 3mc Syndrome:



Diseases related to 3mc Syndrome

Symptoms & Phenotypes for 3mc Syndrome

Human phenotypes related to 3mc Syndrome:

32 (show all 28)
# Description HPO Frequency HPO Source Accession
1 oral cleft 32 frequent (33%) HP:0000202
2 hypertelorism 32 frequent (33%) HP:0000316
3 hearing impairment 32 hallmark (90%) HP:0000365
4 low-set ears 32 occasional (7.5%) HP:0000369
5 downslanted palpebral fissures 32 frequent (33%) HP:0000494
6 telecanthus 32 frequent (33%) HP:0000506
7 ptosis 32 hallmark (90%) HP:0000508
8 epicanthus inversus 32 hallmark (90%) HP:0000537
9 blepharophimosis 32 frequent (33%) HP:0000581
10 abnormal anterior chamber morphology 32 frequent (33%) HP:0000593
11 intellectual disability 32 frequent (33%) HP:0001249
12 craniosynostosis 32 frequent (33%) HP:0001363
13 umbilical hernia 32 occasional (7.5%) HP:0001537
14 diastasis recti 32 frequent (33%) HP:0001540
15 large fleshy ears 32 frequent (33%) HP:0002265
16 supernumerary nipple 32 frequent (33%) HP:0002558
17 scoliosis 32 frequent (33%) HP:0002650
18 downturned corners of mouth 32 frequent (33%) HP:0002714
19 caudal appendage 32 occasional (7.5%) HP:0002825
20 hip dislocation 32 occasional (7.5%) HP:0002827
21 radioulnar synostosis 32 hallmark (90%) HP:0002974
22 spina bifida occulta 32 frequent (33%) HP:0003298
23 hyperlordosis 32 frequent (33%) HP:0003307
24 abnormal nasal morphology 32 occasional (7.5%) HP:0005105
25 limited pronation/supination of forearm 32 hallmark (90%) HP:0006394
26 bilateral cryptorchidism 32 frequent (33%) HP:0008689
27 postnatal growth retardation 32 frequent (33%) HP:0008897
28 prominent coccyx 32 occasional (7.5%) HP:0040016

UMLS symptoms related to 3mc Syndrome:


torticollis

Drugs & Therapeutics for 3mc Syndrome

Search Clinical Trials , NIH Clinical Center for 3mc Syndrome

Genetic Tests for 3mc Syndrome

Genetic tests related to 3mc Syndrome:

# Genetic test Affiliating Genes
1 Michels Syndrome 29 MASP1
2 Carnevale Syndrome 29 COLEC11
3 Malpuech Facial Clefting Syndrome 29 COLEC10

Anatomical Context for 3mc Syndrome

MalaCards organs/tissues related to 3mc Syndrome:

41
Bone, Eye

Publications for 3mc Syndrome

Articles related to 3mc Syndrome:

# Title Authors Year
1
Petrous Bone CT Findings in Patient With 3MC Syndrome. ( 29912835 )
2018
2
Biallelic intragenic deletion in MASP1 in an adult female with 3MC syndrome. ( 29407414 )
2018
3
Exploring the genetic basis of 3MC syndrome: Findings in 12 further families. ( 26789649 )
2016
4
Familial Recurrence of 3MC Syndrome in Consanguineous Families: A Clinical and Molecular Diagnostic Approach With Review of the Literature. ( 27356087 )
2016
5
Molecular basis of sugar recognition by collectin-K1 and the effects of mutations associated with 3MC syndrome. ( 25912189 )
2015
6
The x-ray crystal structure of mannose-binding lectin-associated serine proteinase-3 reveals the structural basis for enzyme inactivity associated with the Carnevale, Mingarelli, Malpuech, and Michels (3MC) syndrome. ( 23792966 )
2013
7
Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome. ( 21258343 )
2011
8
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
9
Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: variable expression of a single disorder (3MC syndrome)? ( 16096999 )
2005

Variations for 3mc Syndrome

ClinVar genetic disease variations for 3mc Syndrome:

6
(show all 39)
# Gene Variation Type Significance SNP ID Assembly Location
1 MASP1 NM_139125.3(MASP1): c.1888T> C (p.Cys630Arg) single nucleotide variant Pathogenic rs387906753 GRCh38 Chromosome 3, 187235983: 187235983
2 MASP1 NM_139125.3(MASP1): c.1489C> T (p.His497Tyr) single nucleotide variant Pathogenic rs387906752 GRCh37 Chromosome 3, 186954170: 186954170
3 MASP1 NM_139125.3(MASP1): c.1489C> T (p.His497Tyr) single nucleotide variant Pathogenic rs387906752 GRCh38 Chromosome 3, 187236382: 187236382
4 MASP1 NM_139125.3(MASP1): c.1888T> C (p.Cys630Arg) single nucleotide variant Pathogenic rs387906753 GRCh37 Chromosome 3, 186953771: 186953771
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 MASP1, GLY687ARG single nucleotide variant Pathogenic
8 MASP1 MASP1, TRP290TER single nucleotide variant Pathogenic
9 COLEC11 NM_024027.4(COLEC11): c.505T> C (p.Ser169Pro) single nucleotide variant Pathogenic rs387907075 GRCh37 Chromosome 2, 3691397: 3691397
10 COLEC11 NM_024027.4(COLEC11): c.505T> C (p.Ser169Pro) single nucleotide variant Pathogenic rs387907075 GRCh38 Chromosome 2, 3643807: 3643807
11 COLEC11 COLEC11, 1-BP DEL, 45C deletion Pathogenic
12 COLEC11 NM_024027.4(COLEC11): c.610G> A (p.Gly204Ser) single nucleotide variant Pathogenic rs387907076 GRCh37 Chromosome 2, 3691502: 3691502
13 COLEC11 NM_024027.4(COLEC11): c.610G> A (p.Gly204Ser) single nucleotide variant Pathogenic rs387907076 GRCh38 Chromosome 2, 3643912: 3643912
14 COLEC11 COLEC11, 3-BP DEL, 648CTC deletion Pathogenic
15 COLEC11 COLEC11, 1-BP DEL, 300T deletion Pathogenic
16 COLEC11 COLEC11, EX1-3DEL deletion Pathogenic
17 MASP1 NM_139125.3(MASP1): c.2034G> A (p.Trp678Ter) single nucleotide variant Uncertain significance rs1085307080 GRCh37 Chromosome 3, 186953625: 186953625
18 MASP1 NM_139125.3(MASP1): c.2034G> A (p.Trp678Ter) single nucleotide variant Uncertain significance rs1085307080 GRCh38 Chromosome 3, 187235837: 187235837
19 MASP1 NM_139125.3(MASP1): c.1779G> A (p.Trp593Ter) single nucleotide variant Pathogenic rs549330397 GRCh37 Chromosome 3, 186953880: 186953880
20 MASP1 NM_139125.3(MASP1): c.1779G> A (p.Trp593Ter) single nucleotide variant Pathogenic rs549330397 GRCh38 Chromosome 3, 187236092: 187236092
21 MASP1 NM_139125.3(MASP1): c.1746G> A (p.Pro582=) single nucleotide variant Benign rs3821805 GRCh37 Chromosome 3, 186953913: 186953913
22 MASP1 NM_139125.3(MASP1): c.1746G> A (p.Pro582=) single nucleotide variant Benign rs3821805 GRCh38 Chromosome 3, 187236125: 187236125
23 COLEC10 NM_006438.4(COLEC10): c.25C> T (p.Arg9Ter) single nucleotide variant Pathogenic rs149010496 GRCh37 Chromosome 8, 120079545: 120079545
24 COLEC10 NM_006438.4(COLEC10): c.25C> T (p.Arg9Ter) single nucleotide variant Pathogenic rs149010496 GRCh38 Chromosome 8, 119067306: 119067306
25 COLEC10 NM_006438.4(COLEC10): c.226delA (p.Gly77Glufs) deletion Pathogenic rs1060505022 GRCh37 Chromosome 8, 120103393: 120103393
26 COLEC10 NM_006438.4(COLEC10): c.226delA (p.Gly77Glufs) deletion Pathogenic rs1060505022 GRCh38 Chromosome 8, 119091154: 119091154
27 COLEC10 NM_006438.4(COLEC10): c.528C> G (p.Cys176Trp) single nucleotide variant Pathogenic rs773764995 GRCh37 Chromosome 8, 120118124: 120118124
28 COLEC10 NM_006438.4(COLEC10): c.528C> G (p.Cys176Trp) single nucleotide variant Pathogenic rs773764995 GRCh38 Chromosome 8, 119105885: 119105885
29 MASP1 NM_139125.3(MASP1): c.1277G> A (p.Gly426Glu) single nucleotide variant Benign rs28945068 GRCh38 Chromosome 3, 187241507: 187241507
30 MASP1 NM_139125.3(MASP1): c.1277G> A (p.Gly426Glu) single nucleotide variant Benign rs28945068 GRCh37 Chromosome 3, 186959295: 186959295
31 MASP1 NM_139125.3(MASP1): c.1187C> T (p.Ser396Phe) single nucleotide variant Uncertain significance rs199907557 GRCh38 Chromosome 3, 187243525: 187243525
32 MASP1 NM_139125.3(MASP1): c.1187C> T (p.Ser396Phe) single nucleotide variant Uncertain significance rs199907557 GRCh37 Chromosome 3, 186961313: 186961313
33 MASP1 NM_139125.3(MASP1): c.1386G> A (p.Pro462=) single nucleotide variant Benign rs35384947 GRCh38 Chromosome 3, 187236485: 187236485
34 MASP1 NM_139125.3(MASP1): c.1386G> A (p.Pro462=) single nucleotide variant Benign rs35384947 GRCh37 Chromosome 3, 186954273: 186954273
35 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
36 MASP1 NM_139125.3(MASP1): c.1062G> A (p.Thr354=) single nucleotide variant Benign rs116763673 GRCh37 Chromosome 3, 186968067: 186968067
37 MASP1 NM_139125.3(MASP1): c.1062G> A (p.Thr354=) single nucleotide variant Benign rs116763673 GRCh38 Chromosome 3, 187250279: 187250279
38 MASP1 NM_139125.3(MASP1): c.417T> C (p.Asp139=) single nucleotide variant Benign rs72549252 GRCh37 Chromosome 3, 186978659: 186978659
39 MASP1 NM_139125.3(MASP1): c.417T> C (p.Asp139=) single nucleotide variant Benign rs72549252 GRCh38 Chromosome 3, 187260871: 187260871

Expression for 3mc Syndrome

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

Pathways for 3mc Syndrome

Pathways related to 3mc Syndrome according to KEGG:

37
# Name Kegg Source Accession
1 Complement and coagulation cascades hsa04610

Pathways related to 3mc Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.54 CFP COLEC10 COLEC11 MASP1 MASP2 MBL2
2
Show member pathways
12.32 CFP PRSS1 PRSS3
3 11.64 MASP1 MASP2 MBL2
4
Show member pathways
11.58 CFP MASP1 MASP2 MBL2
5
Show member pathways
11.49 COLEC11 MASP1
6 11.42 PRSS1 PRSS3
7
Show member pathways
11.28 CFP MASP1 MASP2 MBL2
8 11.18 MASP1 MASP2 MBL2
9
Show member pathways
11.18 COLEC10 COLEC11 MASP1 MASP2 MBL2
10 10.69 PRSS1 PRSS3

GO Terms for 3mc Syndrome

Cellular components related to 3mc Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.56 CFP COLEC10 COLEC11 MASP1 MASP2 MBL2
2 collagen trimer GO:0005581 9.33 COLEC10 COLEC11 MBL2
3 tertiary granule lumen GO:1904724 9.26 CFP PRSS3
4 extracellular space GO:0005615 9.23 CFP COLEC10 COLEC11 MASP1 MASP2 MBL2

Biological processes related to 3mc Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.7 COLEC10 COLEC11 MASP1 MASP2 MBL2 PRSS1
2 innate immune response GO:0045087 9.62 CFP MASP1 MASP2 MBL2
3 complement activation GO:0006956 9.43 CFP COLEC10 COLEC11 MASP1 MASP2 MBL2
4 developmental process GO:0032502 9.4 COLEC10 COLEC11
5 digestion GO:0007586 9.37 PRSS1 PRSS3
6 cobalamin metabolic process GO:0009235 9.26 PRSS1 PRSS3
7 complement activation, lectin pathway GO:0001867 9.02 COLEC10 COLEC11 MASP1 MASP2 MBL2

Molecular functions related to 3mc Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.73 MASP1 MASP2 MBL2 PRSS3
2 peptidase activity GO:0008233 9.67 MASP1 MASP2 PRSS1 PRSS3
3 carbohydrate binding GO:0030246 9.58 COLEC10 COLEC11 MBL2
4 serine-type peptidase activity GO:0008236 9.46 MASP1 MASP2 PRSS1 PRSS3
5 calcium-dependent protein binding GO:0048306 9.43 MASP1 MASP2 MBL2
6 monosaccharide binding GO:0048029 9.32 COLEC10 COLEC11
7 serine-type endopeptidase activity GO:0004252 9.17 COLEC10 COLEC11 MASP1 MASP2 MBL2 PRSS1
8 mannose binding GO:0005537 9.13 COLEC10 COLEC11 MBL2

Sources for 3mc Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....