3MC1
MCID: 3MC002
MIFTS: 31

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 57 12 74 13 17
Oculopalatoskeletal Syndrome 57 74 72
Michels Syndrome 74 29 6
Craniosynostosis with Lid Anomalies 57 74
3mc1 57 74
Michels Syndrome, Formerly 57
3mc Syndrome, Type 1 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
3mc syndrome 1:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060575
MedGen 42 C0796059
UMLS 72 C0796059

Summaries for 3mc Syndrome 1

OMIM : 57 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 : 74 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 : 75 Michels syndrome is a syndrome characterised by intellectual disability, craniosynostosis,... more...

Related Diseases for 3mc Syndrome 1

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:

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
conjunctival telangiectasia
glaucoma
blepharophimosis
epicanthus inversus
more
Head And Neck Mouth:
cleft palate
cleft lip

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

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

Head And Neck Head:
microcephaly
large anterior fontanel

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

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:

41
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. 38 8 71
17937425 2007
2
Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome. 8 71
21258343 2011
3
MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes. 8 71
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? 8 71
18266249 2008
5
Asymmetrical skull, ptosis, hypertelorism, high nasal bridge, clefting, umbilical anomalies, and skeletal anomalies in sibs: is Carnevale syndrome a separate entity? 38 8
17236195 2007
6
Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: variable expression of a single disorder (3MC syndrome)? 38 8
16096999 2005
7
Michels syndrome in a Brazilian girl born to consanguineous parents. 38 8
7677137 1995
8
Craniosynostosis and lid anomalies: report of a girl with Michels syndrome. 38 8
2240039 1990
9
COLEC10 is mutated in 3MC patients and regulates early craniofacial development. 8
28301481 2017
10
Exploring the genetic basis of 3MC syndrome: Findings in 12 further families. 8
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. 71
22966085 2012
12
Two sisters with a syndrome of ocular, skeletal, and abdominal abnormalities (OSA syndrome). 8
8933348 1996
13
A clefting syndrome with ocular anterior chamber defect and lid anomalies. 8
690758 1978
14
Anaesthetic management of a patient with Michels syndrome. 38
28372666 2017
15
Molecular basis of sugar recognition by collectin-K1 and the effects of mutations associated with 3MC syndrome. 38
25912189 2015
16
Michels syndrome: the first case report from India and review of literature. 38
25370402 2014
17
[Michels syndrome]. 38
11528693 2001
18
Anterior segment anomalies of the eye, clefting and skeletal abnormalities in two sibs of consanguineous parents: Michels syndrome or new syndrome? 38
7981860 1994
19
A sibship with unusual anomalies of the eye and skeleton (Michels' syndrome). 38
1951596 1991

Variations for 3mc Syndrome 1

ClinVar genetic disease variations for 3mc Syndrome 1:

6 (show all 18)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 MASP1 NM_139125.3(MASP1): c.1489C> T (p.His497Tyr) single nucleotide variant Pathogenic rs387906752 3:186954170-186954170 3:187236382-187236382
2 MASP1 NM_139125.3(MASP1): c.1888T> C (p.Cys630Arg) single nucleotide variant Pathogenic rs387906753 3:186953771-186953771 3:187235983-187235983
3 MASP1 NM_139125.3(MASP1): c.1997G> A (p.Gly666Glu) single nucleotide variant Pathogenic rs387906754 3:186953662-186953662 3:187235874-187235874
4 MASP1 NM_139125.3(MASP1): c.2059G> A (p.Gly687Arg) single nucleotide variant Pathogenic 3:186953600-186953600 3:187235812-187235812
5 MASP1 NM_001879.5(MASP1): c.870G> A (p.Trp290Ter) single nucleotide variant Pathogenic 3:186970978-186970978 3:187253190-187253190
6 MASP1 NM_001879.5(MASP1): c.812dup (p.Ser272fs) duplication Pathogenic 3:186971036-186971036 3:187253248-187253248
7 MASP1 NC_000003.11: g.(?_186953452)_(186974668_?)del deletion Pathogenic 3:186953452-186974668 3:187235664-187256880
8 covers 16 genes, none of which curated to show dosage sensitivity NC_000003.11: g.(?_186256465)_(186980528_?)del deletion Pathogenic 3:186256465-186980528 :0-0
9 MASP1 NM_001879.5(MASP1): c.863G> A (p.Arg288Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs116001173 3:186970985-186970985 3:187253197-187253197
10 MASP1 NM_001879.5(MASP1): c.1187C> T (p.Ser396Phe) single nucleotide variant Uncertain significance rs199907557 3:186961313-186961313 3:187243525-187243525
11 MASP1 NM_001879.5(MASP1): c.1442-5C> G single nucleotide variant Uncertain significance 3:186944313-186944313 3:187226525-187226525
12 MASP1 NM_001879.5(MASP1): c.322C> T (p.Leu108Phe) single nucleotide variant Uncertain significance 3:186980424-186980424 3:187262636-187262636
13 MASP1 NM_139125.3(MASP1): c.2034G> A (p.Trp678Ter) single nucleotide variant Uncertain significance rs1085307080 3:186953625-186953625 3:187235837-187235837
14 MASP1 NM_139125.3(MASP1): c.1746G> A (p.Pro582=) single nucleotide variant Benign rs3821805 3:186953913-186953913 3:187236125-187236125
15 MASP1 NM_001879.5(MASP1): c.1277G> A (p.Gly426Glu) single nucleotide variant Benign rs28945068 3:186959295-186959295 3:187241507-187241507
16 MASP1 NM_139125.3(MASP1): c.1386G> A (p.Pro462=) single nucleotide variant Benign rs35384947 3:186954273-186954273 3:187236485-187236485
17 MASP1 NM_001879.5(MASP1): c.1062G> A (p.Thr354=) single nucleotide variant Benign rs116763673 3:186968067-186968067 3:187250279-187250279
18 MASP1 NM_001879.5(MASP1): c.417T> C (p.Asp139=) single nucleotide variant Benign rs72549252 3:186978659-186978659 3:187260871-187260871

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
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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