Aliases & Classifications for 3mc Syndrome 1

MalaCards integrated aliases for 3mc Syndrome 1:

Name: 3mc Syndrome 1 53 12 71 13
Oculopalatoskeletal Syndrome 53 71 69
Craniosynostosis with Lid Anomalies 53 71
3mc1 53 71
Michels Syndrome, Formerly 53
Michels Syndrome 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
3mc syndrome 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for 3mc Syndrome 1

OMIM : 53 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, and has symptoms including hypertelorism, abnormality of eye movement and ptosis. An important gene associated with 3mc Syndrome 1 is MASP1 (Mannan Binding Lectin Serine Peptidase 1). Affiliated tissues include eye and skin.

UniProtKB/Swiss-Prot : 71 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:

53
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:

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

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:

38
Eye, Skin

Publications for 3mc Syndrome 1

Articles related to 3mc Syndrome 1:

# Title Authors Year
1
Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome. ( 26419238 )
2015
2
Michels syndrome: The first case report from India and review of literature. ( 25370402 )
2014
3
MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes. ( 21035106 )
2010
4
Three additional cases of the Michels syndrome. ( 17937425 )
2007
5
Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: variable expression of a single disorder (3MC syndrome)? ( 16096999 )
2005
6
Michels syndrome in a Brazilian girl born to consanguineous parents. ( 7677137 )
1995
7
Anterior segment anomalies of the eye, clefting and skeletal abnormalities in two sibs of consanguineous parents: Michels syndrome or new syndrome? ( 7981860 )
1994
8
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
# Gene Variation Type Significance SNP ID Assembly Location
1 MASP1 NM_139125.3(MASP1): c.1489C> T (p.His497Tyr) single nucleotide variant Pathogenic rs387906752 GRCh37 Chromosome 3, 186954170: 186954170
2 MASP1 NM_139125.3(MASP1): c.1888T> C (p.Cys630Arg) single nucleotide variant Pathogenic rs387906753 GRCh37 Chromosome 3, 186953771: 186953771
3 MASP1 NM_139125.3(MASP1): c.1997G> A (p.Gly666Glu) single nucleotide variant Pathogenic rs387906754 GRCh37 Chromosome 3, 186953662: 186953662
4 MASP1 MASP1, GLY687ARG single nucleotide variant Pathogenic
5 MASP1 MASP1, TRP290TER single nucleotide variant Pathogenic
6 MASP1 NM_139125.3(MASP1): c.1779G> A (p.Trp593Ter) single nucleotide variant Pathogenic rs549330397 GRCh37 Chromosome 3, 186953880: 186953880

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
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10 dbSNP
11 DGIdb
16 ExPASy
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67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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