3MC1
MCID: 3MC002
MIFTS: 32

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 56 12 73 13 17
Oculopalatoskeletal Syndrome 56 73 71
Michels Syndrome 73 29 6
Craniosynostosis with Lid Anomalies 56 73
3mc1 56 73
Michels Syndrome, Formerly 56
3mc Syndrome, Type 1 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
3mc syndrome 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for 3mc Syndrome 1

OMIM : 56 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 autosomal recessive inheritance of homozygous mutation in the mannan binding lectin serine peptidase 1 gene (MASP1) on chromosome 3q27.

UniProtKB/Swiss-Prot : 73 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 : 74 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:

(show all 24)
# Related Disease Score Top Affiliating Genes
1 3mc syndrome 11.5
2 3mc syndrome 3 11.3
3 3mc syndrome 2 11.3
4 ptosis 10.3
5 blepharophimosis 10.3
6 epicanthus 10.3
7 alacrima, achalasia, and mental retardation syndrome 10.3
8 autosomal recessive disease 10.3
9 craniosynostosis 10.2
10 hypertelorism 10.2
11 telecanthus 10.2
12 cleft lip 10.2
13 cleft lip/palate 10.2
14 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
15 blepharophimosis, ptosis, and epicanthus inversus 9.9
16 cleft palate, isolated 9.9
17 radioulnar synostosis 9.9
18 strabismus 9.9
19 branchiootic syndrome 1 9.9
20 al-gazali syndrome 9.9
21 hypospadias 9.9
22 synostosis 9.9
23 telangiectasis 9.9
24 mechanical strabismus 9.9

Graphical network of the top 20 diseases related to 3mc Syndrome 1:



Diseases related to 3mc Syndrome 1

Symptoms & Phenotypes for 3mc Syndrome 1

Human phenotypes related to 3mc Syndrome 1:

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

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
conjunctival telangiectasia
glaucoma
blepharophimosis
epicanthus inversus
more
Head And Neck Head:
microcephaly
large anterior fontanel

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

Genitourinary Kidneys:
hydronephrosis

Skeletal Limbs:
radioulnar synostosis

Abdomen External Features:
omphalocele
periumbilical depression

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

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

Head And Neck Mouth:
cleft palate
cleft lip

Growth Other:
postnatal growth retardation

Head And Neck Teeth:
dental crowding

Skeletal Spine:
spina bifida occulta

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

Head And Neck Ears:
hearing loss, conductive

Skeletal Feet:
short, broad feet

Head And Neck Face:
hypoplastic supraorbital ridges

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

Genetic tests related to 3mc Syndrome 1:

# Genetic test Affiliating Genes
1 Michels Syndrome 29 MASP1

Anatomical Context for 3mc Syndrome 1

MalaCards organs/tissues related to 3mc Syndrome 1:

40
Eye, Skin

Publications for 3mc Syndrome 1

Articles related to 3mc Syndrome 1:

(show all 19)
# Title Authors PMID Year
1
Three additional cases of the Michels syndrome. 61 56 6
17937425 2007
2
Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome. 56 6
21258343 2011
3
MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes. 56 6
21035106 2010
4
Blepharophimosis, blepharoptosis, defects of the anterior chamber of the eye, caudal appendage, radioulnar synostosis, hearing loss and umbilical anomalies in sibs: 3MC syndrome? 56 6
18266249 2008
5
Asymmetrical skull, ptosis, hypertelorism, high nasal bridge, clefting, umbilical anomalies, and skeletal anomalies in sibs: is Carnevale syndrome a separate entity? 61 56
17236195 2007
6
Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: variable expression of a single disorder (3MC syndrome)? 61 56
16096999 2005
7
Michels syndrome in a Brazilian girl born to consanguineous parents. 61 56
7677137 1995
8
Craniosynostosis and lid anomalies: report of a girl with Michels syndrome. 61 56
2240039 1990
9
COLEC10 is mutated in 3MC patients and regulates early craniofacial development. 56
28301481 2017
10
Exploring the genetic basis of 3MC syndrome: Findings in 12 further families. 56
26789649 2016
11
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. 6
22966085 2012
12
Two sisters with a syndrome of ocular, skeletal, and abdominal abnormalities (OSA syndrome). 56
8933348 1996
13
A clefting syndrome with ocular anterior chamber defect and lid anomalies. 56
690758 1978
14
Anaesthetic management of a patient with Michels syndrome. 61
28372666 2017
15
Molecular basis of sugar recognition by collectin-K1 and the effects of mutations associated with 3MC syndrome. 61
25912189 2015
16
Michels syndrome: the first case report from India and review of literature. 61
25370402 2014
17
[Michels syndrome]. 61
11528693 2001
18
Anterior segment anomalies of the eye, clefting and skeletal abnormalities in two sibs of consanguineous parents: Michels syndrome or new syndrome? 61
7981860 1994
19
A sibship with unusual anomalies of the eye and skeleton (Michels' syndrome). 61
1951596 1991

Variations for 3mc Syndrome 1

ClinVar genetic disease variations for 3mc Syndrome 1:

6 (show all 15) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MASP1 NM_001879.5(MASP1):c.1303+5099C>TSNV Pathogenic 30074 rs387906752 3:186954170-186954170 3:187236382-187236382
2 MASP1 NM_001879.5(MASP1):c.1303+5498T>CSNV Pathogenic 30075 rs387906753 3:186953771-186953771 3:187235983-187235983
3 MASP1 NM_001879.5(MASP1):c.1303+5607G>ASNV Pathogenic 30076 rs387906754 3:186953662-186953662 3:187235874-187235874
4 MASP1 NM_001879.5(MASP1):c.1303+5669G>ASNV Pathogenic 30077 rs533236263 3:186953600-186953600 3:187235812-187235812
5 MASP1 NM_001879.5(MASP1):c.870G>A (p.Trp290Ter)SNV Pathogenic 30078 rs763360042 3:186970978-186970978 3:187253190-187253190
6 covers 16 genes, none of which curated to show dosage sensitivity NC_000003.11:g.(?_186256465)_(186980528_?)deldeletion Pathogenic 531899 3:186256465-186980528
7 MASP1 NM_001879.5(MASP1):c.812dup (p.Ser272fs)duplication Pathogenic 572584 rs1560255926 3:186971035-186971036 3:187253247-187253248
8 MASP1 NC_000003.11:g.(?_186953452)_(186974668_?)deldeletion Pathogenic 650705 3:186953452-186974668 3:187235664-187256880
9 MASP1 NM_139125.4(MASP1):c.518del (p.Ile173fs)deletion Pathogenic 807629 3:186978558-186978558 3:187260770-187260770
10 MASP1 NM_001879.5(MASP1):c.863G>A (p.Arg288Gln)SNV Conflicting interpretations of pathogenicity 285534 rs116001173 3:186970985-186970985 3:187253197-187253197
11 MASP1 NM_001879.5(MASP1):c.1442-5C>GSNV Uncertain significance 626136 rs138989954 3:186944313-186944313 3:187226525-187226525
12 MASP1 NM_001879.5(MASP1):c.322C>T (p.Leu108Phe)SNV Uncertain significance 646164 3:186980424-186980424 3:187262636-187262636
13 MASP1 NM_001879.5(MASP1):c.1303+5644G>ASNV Uncertain significance 225410 rs1085307080 3:186953625-186953625 3:187235837-187235837
14 MASP1 NM_001879.5(MASP1):c.1187C>T (p.Ser396Phe)SNV Uncertain significance 463033 rs199907557 3:186961313-186961313 3:187243525-187243525
15 MASP1 NM_001879.5(MASP1):c.1277G>A (p.Gly426Glu)SNV Benign 463034 rs28945068 3:186959295-186959295 3:187241507-187241507

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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