MCID: 3MC003
MIFTS: 40

3mc Syndrome

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

Aliases & Classifications for 3mc Syndrome

MalaCards integrated aliases for 3mc Syndrome:

Name: 3mc Syndrome 12 54 26 38 15
Malpuech Facial Clefting Syndrome 26 30 6 74
Carnevale Syndrome 26 30 6 74
Craniofacial-Ulnar-Renal Syndrome 12 54 26
Oculopalatoskeletal Syndrome 12 26 74
Michels Syndrome 26 30 6
Ptosis of Eyelids with Diastasis Recti and Hip Dysplasia 26
Malpuech-Michels-Mingarelli-Carnevale Syndrome 54
Ptosis-Strabismus-Rectus Abdominis Diastasis 26
Carnevale-Krajewska-Fischetto Syndrome 26
Craniosynostosis with Lid Anomalies 26
Oculo-Skeletal-Abdominal Syndrome 26
Mingarelli Syndrome 26
Malpuech Syndrome 26
Osa Syndrome 26

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, eye and heart, and related phenotypes are ptosis and hearing impairment

Genetics Home Reference : 26 3MC syndrome is a disorder characterized by unusual facial features and problems affecting other tissues and organs.

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:

33 (show all 29)
# Description HPO Frequency HPO Source Accession
1 ptosis 33 hallmark (90%) HP:0000508
2 hearing impairment 33 hallmark (90%) HP:0000365
3 radioulnar synostosis 33 hallmark (90%) HP:0002974
4 highly arched eyebrow 33 hallmark (90%) HP:0002553
5 limited pronation/supination of forearm 33 hallmark (90%) HP:0006394
6 epicanthus inversus 33 hallmark (90%) HP:0000537
7 hypertelorism 33 frequent (33%) HP:0000316
8 intellectual disability 33 frequent (33%) HP:0001249
9 scoliosis 33 frequent (33%) HP:0002650
10 hyperlordosis 33 frequent (33%) HP:0003307
11 postnatal growth retardation 33 frequent (33%) HP:0008897
12 telecanthus 33 frequent (33%) HP:0000506
13 downslanted palpebral fissures 33 frequent (33%) HP:0000494
14 downturned corners of mouth 33 frequent (33%) HP:0002714
15 blepharophimosis 33 frequent (33%) HP:0000581
16 spina bifida occulta 33 frequent (33%) HP:0003298
17 craniosynostosis 33 frequent (33%) HP:0001363
18 oral cleft 33 frequent (33%) HP:0000202
19 diastasis recti 33 frequent (33%) HP:0001540
20 bilateral cryptorchidism 33 frequent (33%) HP:0008689
21 supernumerary nipple 33 frequent (33%) HP:0002558
22 large fleshy ears 33 frequent (33%) HP:0002265
23 abnormal anterior chamber morphology 33 frequent (33%) HP:0000593
24 low-set ears 33 occasional (7.5%) HP:0000369
25 umbilical hernia 33 occasional (7.5%) HP:0001537
26 abnormal nasal morphology 33 occasional (7.5%) HP:0005105
27 hip dislocation 33 occasional (7.5%) HP:0002827
28 caudal appendage 33 occasional (7.5%) HP:0002825
29 prominent coccyx 33 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 30 MASP1
2 Carnevale Syndrome 30 COLEC11
3 Malpuech Facial Clefting Syndrome 30 COLEC10

Anatomical Context for 3mc Syndrome

MalaCards organs/tissues related to 3mc Syndrome:

42
Bone, Eye, Heart

Publications for 3mc Syndrome

Articles related to 3mc Syndrome:

(show all 11)
# Title Authors Year
1
Novel mutation in MASP1 gene in a new family with 3MC syndrome. ( 30601195 )
2019
2
Biallelic intragenic deletion in MASP1 in an adult female with 3MC syndrome. ( 29407414 )
2018
3
Petrous Bone CT Findings in Patient With 3MC Syndrome. ( 29912835 )
2018
4
Familial Recurrence of 3MC Syndrome in Consanguineous Families: A Clinical and Molecular Diagnostic Approach With Review of the Literature. ( 27356087 )
2017
5
Exploring the genetic basis of 3MC syndrome: Findings in 12 further families. ( 26789649 )
2016
6
Molecular basis of sugar recognition by collectin-K1 and the effects of mutations associated with 3MC syndrome. ( 25912189 )
2015
7
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
8
Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome. ( 21258343 )
2011
9
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
10
Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: variable expression of a single disorder (3MC syndrome)? ( 16096999 )
2005
11
Malpuech facial clefting syndrome in a Japanese boy with cardiac defects. ( 8851768 )
1995

Variations for 3mc Syndrome

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:

38
# 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
13.57 CFP CLEC12A COLEC10 COLEC11 KIR3DL1 MASP1
2 11.79 COLEC11 COLEC12 MBL2
3 11.72 MASP1 MASP2 MBL2
4
Show member pathways
11.58 CFP MASP1 MASP2 MBL2
5
Show member pathways
11.56 COLEC11 COLEC12 MASP1
6
Show member pathways
11.28 CFP MASP1 MASP2 MBL2
7 11.27 MASP1 MASP2 MBL2
8
Show member pathways
11.18 COLEC10 COLEC11 MASP1 MASP2 MBL2
9 10.78 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 9.76 CFP COLEC10 COLEC11 MASP1 MASP2 MBL2
2 extracellular space GO:0005615 9.28 CFP COLEC10 COLEC11 COLEC12 MASP1 MASP2
3 tertiary granule lumen GO:1904724 9.26 CFP PRSS3
4 collagen trimer GO:0005581 9.26 COLEC10 COLEC11 COLEC12 MBL2

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

# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 9.73 COLEC11 MASP1 MASP2 MBL2
2 innate immune response GO:0045087 9.73 CFP COLEC11 COLEC12 MASP1 MASP2 MBL2
3 receptor-mediated endocytosis GO:0006898 9.54 COLEC11 COLEC12 MASP1
4 antimicrobial humoral response GO:0019730 9.46 COLEC11 PRSS3
5 proteolysis GO:0006508 9.46 MASP1 MASP2 PRSS1 PRSS3
6 complement activation GO:0006956 9.43 CFP COLEC10 COLEC11 MASP1 MASP2 MBL2
7 digestion GO:0007586 9.4 PRSS1 PRSS3
8 cobalamin metabolic process GO:0009235 9.32 PRSS1 PRSS3
9 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 9.77 COLEC11 MASP1 MASP2 MBL2 PRSS3
2 peptidase activity GO:0008233 9.73 MASP1 MASP2 PRSS1 PRSS3
3 serine-type peptidase activity GO:0008236 9.56 MASP1 MASP2 PRSS1 PRSS3
4 calcium-dependent protein binding GO:0048306 9.5 MASP1 MASP2 MBL2
5 monosaccharide binding GO:0048029 9.4 COLEC10 COLEC11
6 carbohydrate binding GO:0030246 9.35 CLEC12A COLEC10 COLEC11 COLEC12 MBL2
7 mannose binding GO:0005537 9.33 COLEC10 COLEC11 MBL2
8 serine-type endopeptidase activity GO:0004252 8.92 MASP1 MASP2 PRSS1 PRSS3

Sources for 3mc Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....