Aliases & Classifications for 3mc Syndrome 1

MalaCards integrated aliases for 3mc Syndrome 1:

Name: 3mc Syndrome 1 54 12 24 71 13
Oculopalatoskeletal Syndrome 71 69
Craniosynostosis with Lid Anomalies 71
Michels Syndrome 71
3mc1 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
3mc syndrome 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for 3mc Syndrome 1

OMIM : 54
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 2, and has symptoms including ptosis, microcephaly and hypertelorism. An important gene associated with 3mc Syndrome 1 is MASP1 (Mannan Binding Lectin Serine Peptidase 1). Affiliated tissues include eye.

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

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.

Related Diseases for 3mc Syndrome 1

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

id Related Disease Score Top Affiliating Genes
1 3mc syndrome 11.0
2 3mc syndrome 2 10.8
3 3mc syndrome 3 10.8

Symptoms & Phenotypes for 3mc Syndrome 1

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Head:
microcephaly
large anterior fontanel

Head And Neck- Mouth:
cleft palate
cleft lip

Genitourinary- Kidneys:
hydronephrosis

Skeletal- Spine:
spina bifida occulta

Skeletal- Limbs:
radioulnar synostosis

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

Chest- Breasts:
accessory nipple

Skeletal- Feet:
short, broad feet

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

Head And Neck- Eyes:
hypertelorism
glaucoma
high-arched eyebrows
blepharophimosis
epicanthus inversus
more
Cardiovascular- Heart:
atrial septal defect
patent ductus arteriosus
ventricular septal defect

Skeletal- Hands:
fifth finger clinodactyly
short fifth finger
fifth finger single interphalangeal crease

Head And Neck- Ears:
hearing loss, conductive

Growth- Other:
postnatal growth retardation

Neurologic- Central Nervous System:
mental retardation, mild

Head And Neck- Teeth:
dental crowding

Head And Neck- Face:
hypoplastic supraorbital ridges


Clinical features from OMIM:

257920

Human phenotypes related to 3mc Syndrome 1:

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

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:

id Genetic test Affiliating Genes
1 3mc Syndrome 1 24 MASP1

Anatomical Context for 3mc Syndrome 1

MalaCards organs/tissues related to 3mc Syndrome 1:

39
Eye

Publications for 3mc Syndrome 1

Variations for 3mc Syndrome 1

ClinVar genetic disease variations for 3mc Syndrome 1:

6
id 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

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7 CNVD
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70 UMLS via Orphanet
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