Aliases & Classifications for 3mc Syndrome 1

MalaCards integrated aliases for 3mc Syndrome 1:

Name: 3mc Syndrome 1 57 12 75 13
Oculopalatoskeletal Syndrome 57 75 73
Craniosynostosis with Lid Anomalies 57 75
3mc1 57 75
Michels Syndrome, Formerly 57
3mc Syndrome, Type 1 40
Michels Syndrome 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
3mc syndrome 1:
Inheritance autosomal recessive inheritance


Classifications:



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 hydronephrosis and cleft palate

UniProtKB/Swiss-Prot : 75 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.

Disease Ontology : 12 A 3MC syndrome that has material basis in homozygous mutation in the MASP1 gene on chromosome 3q27.

Related Diseases for 3mc Syndrome 1

Diseases related to 3mc Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 3mc syndrome 11.2
2 3mc syndrome 3 10.9
3 3mc syndrome 2 10.9

Symptoms & Phenotypes for 3mc Syndrome 1

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

Growth Other:
postnatal growth retardation

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

Skeletal Spine:
spina bifida occulta

Abdomen External Features:
omphalocele
periumbilical depression

Head And Neck Ears:
hearing loss, conductive

Skeletal Feet:
short, broad feet

Head And Neck Face:
hypoplastic supraorbital ridges

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

Head And Neck Head:
microcephaly
large anterior fontanel

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

Head And Neck Teeth:
dental crowding

Skeletal Limbs:
radioulnar synostosis

Genitourinary Kidneys:
hydronephrosis

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


Clinical features from OMIM:

257920

Human phenotypes related to 3mc Syndrome 1:

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

Drugs & Therapeutics for 3mc Syndrome 1

Search Clinical Trials , NIH Clinical Center for 3mc Syndrome 1

Genetic Tests for 3mc Syndrome 1

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:

# Title Authors Year
1
Michels syndrome: The first case report from India and review of literature. ( 25370402 )
2014
2
MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes. ( 21035106 )
2010
3
Three additional cases of the Michels syndrome. ( 17937425 )
2007
4
Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: variable expression of a single disorder (3MC syndrome)? ( 16096999 )
2005
5
Michels syndrome in a Brazilian girl born to consanguineous parents. ( 7677137 )
1995
6
Anterior segment anomalies of the eye, clefting and skeletal abnormalities in two sibs of consanguineous parents: Michels syndrome or new syndrome? ( 7981860 )
1994
7
Craniosynostosis and lid anomalies: report of a girl with Michels syndrome. ( 2240039 )
1990

Variations for 3mc Syndrome 1

ClinVar genetic disease variations for 3mc Syndrome 1:

6
(show all 25)
# 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 MASP1 NM_139125.3(MASP1): c.2034G> A (p.Trp678Ter) single nucleotide variant Uncertain significance rs1085307080 GRCh37 Chromosome 3, 186953625: 186953625
10 MASP1 NM_139125.3(MASP1): c.2034G> A (p.Trp678Ter) single nucleotide variant Uncertain significance rs1085307080 GRCh38 Chromosome 3, 187235837: 187235837
11 MASP1 NM_139125.3(MASP1): c.1779G> A (p.Trp593Ter) single nucleotide variant Pathogenic rs549330397 GRCh37 Chromosome 3, 186953880: 186953880
12 MASP1 NM_139125.3(MASP1): c.1779G> A (p.Trp593Ter) single nucleotide variant Pathogenic rs549330397 GRCh38 Chromosome 3, 187236092: 187236092
13 MASP1 NM_139125.3(MASP1): c.1746G> A (p.Pro582=) single nucleotide variant Benign rs3821805 GRCh37 Chromosome 3, 186953913: 186953913
14 MASP1 NM_139125.3(MASP1): c.1746G> A (p.Pro582=) single nucleotide variant Benign rs3821805 GRCh38 Chromosome 3, 187236125: 187236125
15 MASP1 NM_139125.3(MASP1): c.1277G> A (p.Gly426Glu) single nucleotide variant Benign rs28945068 GRCh38 Chromosome 3, 187241507: 187241507
16 MASP1 NM_139125.3(MASP1): c.1277G> A (p.Gly426Glu) single nucleotide variant Benign rs28945068 GRCh37 Chromosome 3, 186959295: 186959295
17 MASP1 NM_139125.3(MASP1): c.1187C> T (p.Ser396Phe) single nucleotide variant Uncertain significance rs199907557 GRCh38 Chromosome 3, 187243525: 187243525
18 MASP1 NM_139125.3(MASP1): c.1187C> T (p.Ser396Phe) single nucleotide variant Uncertain significance rs199907557 GRCh37 Chromosome 3, 186961313: 186961313
19 MASP1 NM_139125.3(MASP1): c.1386G> A (p.Pro462=) single nucleotide variant Benign rs35384947 GRCh38 Chromosome 3, 187236485: 187236485
20 MASP1 NM_139125.3(MASP1): c.1386G> A (p.Pro462=) single nucleotide variant Benign rs35384947 GRCh37 Chromosome 3, 186954273: 186954273
21 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
22 MASP1 NM_139125.3(MASP1): c.1062G> A (p.Thr354=) single nucleotide variant Benign rs116763673 GRCh37 Chromosome 3, 186968067: 186968067
23 MASP1 NM_139125.3(MASP1): c.1062G> A (p.Thr354=) single nucleotide variant Benign rs116763673 GRCh38 Chromosome 3, 187250279: 187250279
24 MASP1 NM_139125.3(MASP1): c.417T> C (p.Asp139=) single nucleotide variant Benign rs72549252 GRCh37 Chromosome 3, 186978659: 186978659
25 MASP1 NM_139125.3(MASP1): c.417T> C (p.Asp139=) single nucleotide variant Benign rs72549252 GRCh38 Chromosome 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 ExPASy
19 FMA
28 GO
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62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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