MCID: 3MC002
MIFTS: 40

3mc Syndrome 1 malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Bone diseases, Nephrological diseases

Aliases & Classifications for 3mc Syndrome 1

About this section

Aliases & Descriptions for 3mc Syndrome 1:

Name: 3mc Syndrome 1 52 11 24 70 12
Oculopalatoskeletal Syndrome 11 25 70 68
3mc Syndrome 11 48 25 13
Craniofacial-Ulnar-Renal Syndrome 11 48 25
Carnevale Syndrome 25 27 68
Michels Syndrome 25 70 27
Craniosynostosis with Lid Anomalies 25 70
Malpuech Facial Clefting Syndrome 25 68
Ptosis of Eyelids with Diastasis Recti and Hip Dysplasia 25
 
Malpuech-Michels-Mingarelli-Carnevale Syndrome 48
Ptosis-Strabismus-Rectus Addominis Diastasis 25
Carnevale-Krajewska-Fischetto Syndrome 25
Oculo-Skeletal-Abdominal Syndrome 25
Mingarelli Syndrome 25
Malpuech Syndrome 25
Osa Syndrome 25
3mc1 70

Characteristics:

HPO:

64
3mc syndrome 1:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 257920
Disease Ontology11 DOID:0060225, DOID:0060575
ICD1030 Q87.8, H02.4
MedGen37 C0796059

Summaries for 3mc Syndrome 1

About this section
OMIM:52 The term '3MC syndrome' encompasses 4 rare autosomal recessive disorders that were previously designated the Carnevale,... (257920) more...

MalaCards based summary: 3mc Syndrome 1, also known as oculopalatoskeletal syndrome, is related to 3mc syndrome 2 and 3mc syndrome 3, and has symptoms including hydronephrosis, cleft palate and cleft upper lip. An important gene associated with 3mc Syndrome 1 is MASP1 (Mannan Binding Lectin Serine Peptidase 1), and among its related pathways are Binding and Uptake of Ligands by Scavenger Receptors and Pancreatic secretion. Affiliated tissues include kidney, heart and bone.

Disease Ontology:11 A type of 3MC syndrome which is that has material basis in homozygous mutation in the MASP1 gene on chromosome 3q27.

Genetics Home Reference:25 3MC syndrome is a disorder characterized by unusual facial features and problems affecting other tissues and organs of the body.

UniProtKB/Swiss-Prot:70 3MC syndrome 1: A disorder characterized by facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis and highly arched eyebrows, cleft lip and/or palate, craniosynostosis, learning disability and genital, limb and vesicorenal anomalies. The term 3MC syndrome includes Carnevale, Mingarelli, Malpuech, and Michels syndromes.

Wikipedia:71 Malpuech facial clefting syndrome, also called Malpuech syndrome or Gypsy type facial clefting syndrome,... more...

Related Diseases for 3mc Syndrome 1

About this section

Graphical network of diseases related to 3mc Syndrome 1:



Diseases related to 3mc syndrome 1

Symptoms & Phenotypes for 3mc Syndrome 1

About this section

Symptoms by clinical synopsis from OMIM:

257920

Clinical features from OMIM:

257920

Human phenotypes related to 3mc Syndrome 1:

 64 (show all 33)
id Description HPO Frequency HPO Source Accession
1 hydronephrosis64 HP:0000126
2 cleft palate64 HP:0000175
3 cleft upper lip64 HP:0000204
4 microcephaly64 HP:0000252
5 wide anterior fontanel64 HP:0000260
6 hypertelorism64 HP:0000316
7 conductive hearing impairment64 HP:0000405
8 abnormality of eye movement64 HP:0000496
9 glaucoma64 HP:0000501
10 ptosis64 HP:0000508
11 conjunctival telangiectasia64 HP:0000524
12 epicanthus inversus64 HP:0000537
13 blepharophimosis64 HP:0000581
14 abnormality of the anterior chamber64 HP:0000593
15 dental crowding64 HP:0000678
16 sacral dimple64 HP:0000960
17 intellectual disability, mild64 HP:0001256
18 growth delay64 HP:0001510
19 omphalocele64 HP:0001539
20 broad foot64 HP:0001769
21 short foot64 HP:0001773
22 highly arched eyebrow64 HP:0002553
23 supernumerary nipple64 HP:0002558
24 skull asymmetry64 HP:0002678
25 radioulnar synostosis64 HP:0002974
26 spina bifida occulta64 HP:0003298
27 clinodactyly of the 5th finger64 HP:0004209
28 coronal craniosynostosis64 HP:0004440
29 lambdoidal craniosynostosis64 HP:0004443
30 single interphalangeal crease of fifth finger64 HP:0006216
31 postnatal growth retardation64 HP:0008897
32 short 5th finger64 HP:0009237
33 underdeveloped supraorbital ridges64 HP:0009891

UMLS symptoms related to 3mc Syndrome 1:


torticollis

Drugs & Therapeutics for 3mc Syndrome 1

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for 3mc Syndrome 1

Genetic Tests for 3mc Syndrome 1

About this section

Genetic tests related to 3mc Syndrome 1:

id Genetic test Affiliating Genes
1 Michels Syndrome27
2 Carnevale Syndrome27
3 3mc Syndrome 124 MASP1

Anatomical Context for 3mc Syndrome 1

About this section

MalaCards organs/tissues related to 3mc Syndrome 1:

36
Kidney, Heart, Bone, Eye

Publications for 3mc Syndrome 1

About this section

Variations for 3mc Syndrome 1

About this section

Clinvar genetic disease variations for 3mc Syndrome 1:

5
id Gene Variation Type Significance SNP ID Assembly Location
1MASP1NM_139125.3(MASP1): c.1779G> A (p.Trp593Ter)SNVPathogenicrs549330397GRCh37Chr 3, 186953880: 186953880
2MASP1NM_139125.3(MASP1): c.1489C> T (p.His497Tyr)SNVPathogenicrs387906752GRCh37Chr 3, 186954170: 186954170
3MASP1NM_139125.3(MASP1): c.1888T> C (p.Cys630Arg)SNVPathogenicrs387906753GRCh37Chr 3, 186953771: 186953771
4MASP1NM_139125.3(MASP1): c.1997G> A (p.Gly666Glu)SNVPathogenicrs387906754GRCh37Chr 3, 186953662: 186953662
5MASP1MASP1, GLY687ARGSNVPathogenicChr na, -1: -1
6MASP1MASP1, TRP290TERSNVPathogenicChr na, -1: -1

Expression for genes affiliated with 3mc Syndrome 1

About this section
Search GEO for disease gene expression data for 3mc Syndrome 1.

Pathways for genes affiliated with 3mc Syndrome 1

About this section

GO Terms for genes affiliated with 3mc Syndrome 1

About this section

Cellular components related to 3mc Syndrome 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1collagen trimerGO:000558110.5COLEC11, MBL2
2extracellular spaceGO:00056158.6CFP, MASP1, MBL2, PRSS3
3extracellular regionGO:00055767.9CFP, COLEC11, MASP1, MASP2, MBL2, PRSS1

Biological processes related to 3mc Syndrome 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1complement activation, classical pathwayGO:000695810.3MASP2, MBL2
2cobalamin metabolic processGO:000923510.1PRSS1, PRSS3
3digestionGO:000758610.1PRSS1, PRSS3
4complement activation, lectin pathwayGO:00018679.9MASP1, MASP2, MBL2
5complement activationGO:00069569.0CFP, COLEC11, MASP1, MASP2, MBL2
6proteolysisGO:00065087.8COLEC11, MASP1, MASP2, MBL2, PRSS1, PRSS3

Molecular functions related to 3mc Syndrome 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mannose bindingGO:000553710.4COLEC11, MBL2
2peptidase activityGO:000823310.3MASP1, MASP2
3calcium-dependent protein bindingGO:004830610.0MASP1, MASP2, MBL2
4calcium ion bindingGO:00055099.4MASP1, MASP2, MBL2, PRSS3
5serine-type peptidase activityGO:00082369.4PRSS1, PRSS3
6serine-type endopeptidase activityGO:00042528.4COLEC11, MASP1, MASP2, MBL2, PRSS1, PRSS3

Sources for 3mc Syndrome 1

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet