MCID: 3MC003
MIFTS: 49

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 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 Abdominis 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 liver, bone and eye, and related phenotypes are hypertelorism and low-set ears

Genetics Home Reference : 25 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:

32 (show all 29)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 frequent (33%) HP:0000316
2 low-set ears 32 occasional (7.5%) HP:0000369
3 ptosis 32 hallmark (90%) HP:0000508
4 intellectual disability 32 frequent (33%) HP:0001249
5 scoliosis 32 frequent (33%) HP:0002650
6 hyperlordosis 32 frequent (33%) HP:0003307
7 hearing impairment 32 hallmark (90%) HP:0000365
8 umbilical hernia 32 occasional (7.5%) HP:0001537
9 abnormal nasal morphology 32 occasional (7.5%) HP:0005105
10 postnatal growth retardation 32 frequent (33%) HP:0008897
11 telecanthus 32 frequent (33%) HP:0000506
12 hip dislocation 32 occasional (7.5%) HP:0002827
13 downslanted palpebral fissures 32 frequent (33%) HP:0000494
14 downturned corners of mouth 32 frequent (33%) HP:0002714
15 blepharophimosis 32 frequent (33%) HP:0000581
16 radioulnar synostosis 32 hallmark (90%) HP:0002974
17 spina bifida occulta 32 frequent (33%) HP:0003298
18 highly arched eyebrow 32 hallmark (90%) HP:0002553
19 limited pronation/supination of forearm 32 hallmark (90%) HP:0006394
20 craniosynostosis 32 frequent (33%) HP:0001363
21 oral cleft 32 frequent (33%) HP:0000202
22 diastasis recti 32 frequent (33%) HP:0001540
23 bilateral cryptorchidism 32 frequent (33%) HP:0008689
24 supernumerary nipple 32 frequent (33%) HP:0002558
25 epicanthus inversus 32 hallmark (90%) HP:0000537
26 large fleshy ears 32 frequent (33%) HP:0002265
27 prominent coccyx 32 occasional (7.5%) HP:0040016
28 caudal appendage 32 occasional (7.5%) HP:0002825
29 abnormal anterior chamber morphology 32 frequent (33%) HP:0000593

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
Liver, Bone, Eye, Testes, Heart

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
Familial Recurrence of 3MC Syndrome in Consanguineous Families: A Clinical and Molecular Diagnostic Approach With Review of the Literature. ( 27356087 )
2017
4
Exploring the genetic basis of 3MC syndrome: Findings in 12 further families. ( 26789649 )
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

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 9.76 CFP COLEC10 COLEC11 MASP1 MASP2 MBL2
2 immune system process GO:0002376 9.67 COLEC11 MASP1 MASP2 MBL2
3 innate immune response GO:0045087 9.65 CFP COLEC11 MASP1 MASP2 MBL2
4 antimicrobial humoral response GO:0019730 9.43 COLEC11 PRSS3
5 complement activation GO:0006956 9.43 CFP COLEC10 COLEC11 MASP1 MASP2 MBL2
6 digestion GO:0007586 9.4 PRSS1 PRSS3
7 cobalamin metabolic process GO:0009235 9.32 PRSS1 PRSS3
8 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 9.72 COLEC11 MASP1 MASP2 MBL2 PRSS3
2 peptidase activity GO:0008233 9.71 MASP1 MASP2 PRSS1 PRSS3
3 carbohydrate binding GO:0030246 9.61 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 9.37 COLEC10 COLEC11
7 serine-type endopeptidase activity GO:0004252 9.23 CFP COLEC10 COLEC11 MASP1 MASP2 MBL2
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
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