MCID: 3MC003
MIFTS: 48

3mc Syndrome

Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for 3mc Syndrome

MalaCards integrated aliases for 3mc Syndrome:

Name: 3mc Syndrome 12 20 43 58 36 15
Craniofacial-Ulnar-Renal Syndrome 12 20 43 58 6
Malpuech Facial Clefting Syndrome 43 6 70
Oculopalatoskeletal Syndrome 12 43 70
Carnevale Syndrome 43 6 70
Malpuech-Michels-Mingarelli-Carnevale Syndrome 20 58
Michels Syndrome 43 6
Ptosis of Eyelids with Diastasis Recti and Hip Dysplasia 43
Ptosis-Strabismus-Rectus Abdominis Diastasis 43
Carnevale-Krajewska-Fischetto Syndrome 43
Craniosynostosis with Lid Anomalies 43
Oculo-Skeletal-Abdominal Syndrome 43
Mingarelli Syndrome 43
Malpuech Syndrome 43
Syndrome, 3mc 39
Osa Syndrome 43

Characteristics:

Orphanet epidemiological data:

58
3mc syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for 3mc Syndrome

MedlinePlus Genetics : 43 3MC syndrome is a disorder characterized by unusual facial features and problems affecting other tissues and organs.The distinctive facial features of people with 3MC syndrome include widely spaced eyes (hypertelorism), a narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), highly arched eyebrows, and an opening in the upper lip (cleft lip) with an opening in the roof of the mouth (cleft palate).Other common features of 3MC syndrome include developmental delay, intellectual disability, hearing loss, and slow growth after birth resulting in short stature. Less often, individuals with 3MC syndrome can have abnormal fusion of certain bones in the skull (craniosynostosis) or forearm (radioulnar synostosis); an outgrowth of the tailbone (caudal appendage); a soft out-pouching around the belly-button (an umbilical hernia); and abnormalities of the kidneys, bladder, or genitals.3MC syndrome encompasses four disorders that were formerly considered to be separate: Mingarelli, Malpeuch, Michels, and Carnevale syndromes. Researchers now generally consider these disorders to be part of the same condition, which is called 3MC based on the initials of the older condition names.

MalaCards based summary : 3mc Syndrome, also known as craniofacial-ulnar-renal syndrome, is related to 3mc syndrome 2 and 3mc syndrome 3, and has symptoms including torticollis An important gene associated with 3mc Syndrome is MASP1 (MBL Associated Serine Protease 1), and among its related pathways/superpathways are Complement and coagulation cascades and Innate Immune System. The drugs Fentanyl and Remifentanil have been mentioned in the context of this disorder. Affiliated tissues include eye, and related phenotypes are ptosis and hearing impairment

Disease Ontology : 12 A syndrome characterized by blepharophimosis, blepharoptosis, highly arched eyebrows hypertelorism, cleft lip and palate, postnatal growth deficiency, cognitive impairment, hearing loss and, in a smaller percentage of cases, craniosynostosis, radioulnar synostosis and genital and vesicorenal anomalies. It encompasses four disorders that were previously designated the Malpuech, Michels, Mingarelli and Carnevale syndromes.

KEGG : 36 3MC syndrome is an autosomal recessive heterogeneous disorder with features linked to developmental abnormalities. Patients with 3MC syndrome may exhibit a spectrum of developmental features, including developmental delay, growth and mental retardation, and characteristic facial dysmorphism, such as hypertelorism, telecanthus, blepharophimosis, blepharoptosis, and epicanthus inversus. 3MC syndrome was originally described as four separate disorders: Malpuech syndrome, Carnevale syndrome, Michels syndrome, and Mingarelli syndrome. There is considerable overlap between them, which have similarities in facial appearance, leading to the suggestion that they should all be considered part of the same phenotypic spectrum known as 3MC syndrome. Mutations in lectin complement pathway genes have been reported to cause 3MC syndrome.

Related Diseases for 3mc Syndrome

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

(show top 50) (show all 62)
# Related Disease Score Top Affiliating Genes
1 3mc syndrome 2 33.1 SLC26A2 COLEC11
2 3mc syndrome 3 33.1 LOC101927513 COLEC10
3 blepharophimosis 30.7 MASP1 COLEC11 COLEC10
4 3mc syndrome 1 11.8
5 alopecia-intellectual disability syndrome 11.2
6 cleft palate, cardiac defect, genital anomalies, and ectrodactyly 11.0
7 cleft lip 10.3
8 periodontal ehlers-danlos syndrome 10.3 C1S C1R
9 cleft lip/palate 10.3
10 ehlers-danlos syndrome, periodontal type, 1 10.3 C1S C1R
11 cardiomyopathy, dilated, 1l 10.3 MASP2 MASP1 KIR3DL1
12 borderline leprosy 10.3 MASP2 FCN1
13 immunodeficiency due to a classical component pathway complement deficiency 10.3 C1S C1R
14 ehlers-danlos syndrome, periodontal type, 2 10.3 C1S C1R
15 pulmonary aspergilloma 10.2 FCN3 FCN1
16 ptosis 10.2
17 congenital intrinsic factor deficiency 10.2 C1S C1R
18 gingival recession 10.2 C1S C1R
19 sporotrichosis 10.2 MBL2 MASP2
20 hypertelorism 10.2
21 alacrima, achalasia, and mental retardation syndrome 10.2
22 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 10.2 MASP1 FAM186B BCDIN3D-AS1
23 coffin-siris syndrome 2 10.2 COLEC10 CLEC12A
24 complement deficiency 10.1 MBL2 C1S C1R
25 c1 inhibitor deficiency 10.1 C1S C1R
26 rheumatic heart disease 10.1 MBL2 FCN3 FCN2
27 urinary schistosomiasis 10.1 FCN2 COLEC11
28 complement component 3 deficiency 10.1 MBL2 MASP1 C1S C1R
29 telecanthus 10.1
30 genitourinary tract anomalies 10.1
31 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
32 synostosis 10.1
33 craniosynostosis 10.1
34 radioulnar synostosis 10.1
35 mannose-binding lectin deficiency 10.1 MBL2 MASP2 FCN3 FCN1
36 angioedema 10.0 MBL2 MASP2 MASP1 C1S C1R
37 apnea, obstructive sleep 10.0
38 sleep apnea 10.0
39 hereditary angioedema 9.9 MBL2 MASP2 MASP1 FCN3 C1S
40 blepharophimosis, ptosis, and epicanthus inversus 9.9
41 al-gazali syndrome 9.9
42 telangiectasis 9.9
43 cleft palate, isolated 9.9
44 epicanthus 9.9
45 strabismus 9.9
46 autosomal recessive disease 9.9
47 umbilical hernia 9.9
48 hypospadias 9.9
49 disseminated intravascular coagulation 9.9
50 learning disability 9.9

Graphical network of the top 20 diseases related to 3mc Syndrome:



Diseases related to 3mc Syndrome

Symptoms & Phenotypes for 3mc Syndrome

Human phenotypes related to 3mc Syndrome:

58 31 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000508
2 hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000365
3 highly arched eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0002553
4 radioulnar synostosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002974
5 epicanthus inversus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000537
6 limited pronation/supination of forearm 58 31 hallmark (90%) Very frequent (99-80%) HP:0006394
7 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
8 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
9 hyperlordosis 58 31 frequent (33%) Frequent (79-30%) HP:0003307
10 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
11 postnatal growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0008897
12 downslanted palpebral fissures 58 31 frequent (33%) Frequent (79-30%) HP:0000494
13 downturned corners of mouth 58 31 frequent (33%) Frequent (79-30%) HP:0002714
14 telecanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000506
15 blepharophimosis 58 31 frequent (33%) Frequent (79-30%) HP:0000581
16 spina bifida occulta 58 31 frequent (33%) Frequent (79-30%) HP:0003298
17 craniosynostosis 58 31 frequent (33%) Frequent (79-30%) HP:0001363
18 diastasis recti 58 31 frequent (33%) Frequent (79-30%) HP:0001540
19 oral cleft 58 31 frequent (33%) Frequent (79-30%) HP:0000202
20 supernumerary nipple 58 31 frequent (33%) Frequent (79-30%) HP:0002558
21 abnormal anterior chamber morphology 58 31 frequent (33%) Frequent (79-30%) HP:0000593
22 bilateral cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0008689
23 large fleshy ears 58 31 frequent (33%) Frequent (79-30%) HP:0002265
24 umbilical hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001537
25 abnormal nasal morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0005105
26 low-set ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000369
27 hip dislocation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002827
28 caudal appendage 58 31 occasional (7.5%) Occasional (29-5%) HP:0002825
29 prominent coccyx 58 31 occasional (7.5%) Occasional (29-5%) HP:0040016
30 abnormality of the pinna 58 Occasional (29-5%)

UMLS symptoms related to 3mc Syndrome:


torticollis

Drugs & Therapeutics for 3mc Syndrome

Drugs for 3mc Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
2
Remifentanil Approved Phase 4 132875-61-7 60815
3
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
4
Desflurane Approved Phase 4 57041-67-5 42113
5 Anesthetics Phase 4
6 Narcotics Phase 4
7 Analgesics Phase 4
8 Analgesics, Opioid Phase 4
9 Anesthetics, General Phase 4
10 Anesthetics, Intravenous Phase 4
11 Anesthetics, Inhalation Phase 4
12 Platelet Aggregation Inhibitors Phase 4
13 Pharmaceutical Solutions Early Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Respiratory Impact of Short Life Agents Used in Balanced Anesthesia on Patients Suffering or Suspected of Obstructive Sleep Apnea (OSA) Syndrome Completed NCT02717780 Phase 4 Fentanyl and sevoflurane;Remifentanil and desflurane
2 PRedictOrs, PHEnotypes and Timing of Obstructive Sleep Apnea in Acute Coronary Syndrome (PROPHET-ACS) Recruiting NCT04002739
3 Evaluation of Different Effects of Nasal Versus Oronasal Mask in Continuous Positive Airway Pressure (CPAP) Treatment of Patients Affected by Obstructive Sleep Apnea Syndrome (OSAS). Recruiting NCT04681196
4 A Prospective, Self-controlled, Feasibility Study to Evaluate Appscent Device Safety and Effectiveness for Relief of Obstructive Sleep Apnea (OSA) Syndrome in Adults. Recruiting NCT04609618 Early Phase 1
5 Humidifier Study: Evaluation of Prophylactic Heated Humidification on Obstructive Sleep Apnea (OSA) Patient Short Term Compliance to CPAP Therapy: Randomized Clinical Trial Withdrawn NCT04391699

Search NIH Clinical Center for 3mc Syndrome

Genetic Tests for 3mc Syndrome

Anatomical Context for 3mc Syndrome

MalaCards organs/tissues related to 3mc Syndrome:

40
Eye

Publications for 3mc Syndrome

Articles related to 3mc Syndrome:

(show all 42)
# Title Authors PMID Year
1
Biallelic intragenic deletion in MASP1 in an adult female with 3MC syndrome. 61 6
29407414 2018
2
COLEC10 is mutated in 3MC patients and regulates early craniofacial development. 6 61
28301481 2017
3
Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome. 61 6
21258343 2011
4
Blepharophimosis, blepharoptosis, defects of the anterior chamber of the eye, caudal appendage, radioulnar synostosis, hearing loss and umbilical anomalies in sibs: 3MC syndrome? 6 61
18266249 2008
5
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. 6
22966085 2012
6
Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution. 6
21922596 2012
7
Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population. 6
21155763 2011
8
New intermediate phenotype between MED and DD caused by compound heterozygous mutations in the DTDST gene. 6
21077204 2010
9
Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family. 6
21077202 2010
10
MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes. 6
21035106 2010
11
Recessive multiple epiphyseal dysplasia (rMED) with homozygosity for C653S mutation in the DTDST gene--phenotype, molecular diagnosis and surgical treatment of habitual dislocation of multilayered patella: case report. 6
20525296 2010
12
Three additional cases of the Michels syndrome. 6
17937425 2007
13
Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells. 6
15294877 2004
14
Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign. 6
12966518 2003
15
Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W. 6
12525546 2003
16
A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity. 6
11565064 2001
17
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype. 6
11448940 2001
18
An atypical case suggesting the possibility of overlap between Malpuech and Juberg-Hayward syndromes. 6
11310992 2001
19
Sulphate transporter gene mutations in apparently isolated club foot. 6
11303514 2001
20
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance. 6
11241838 2001
21
Identification of the Finnish founder mutation for diastrophic dysplasia (DTD). 6
10482955 1999
22
Undersulfation of cartilage proteoglycans ex vivo and increased contribution of amino acid sulfur to sulfation in vitro in McAlister dysplasia/atelosteogenesis type 2. 6
9342225 1997
23
Two sisters with a syndrome of ocular, skeletal, and abdominal abnormalities (OSA syndrome). 6
8933348 1996
24
Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias. 6
8571951 1996
25
Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. 6
8528239 1996
26
Ptosis of eyelids, strabismus, diastasis recti, hip defect, cryptorchidism, and developmental delay in two sibs. 6
2569826 1989
27
MASP1-related 3MC syndrome in a patient from Turkey. 61
33765348 2021
28
Sacral protuberance with cleft lip and palate: Prenatal presentation of 3MC syndrome. 61
32441374 2020
29
Association of Polymorphisms of MASP1/3, COLEC10, and COLEC11 Genes with 3MC Syndrome. 61
32751929 2020
30
Complement System in Brain Architecture and Neurodevelopmental Disorders. 61
32116493 2020
31
Novel mutation in MASP1 gene in a new family with 3MC syndrome. 61
30601195 2019
32
Petrous Bone CT Findings in Patient With 3MC Syndrome. 61
29912835 2018
33
Familial Recurrence of 3MC Syndrome in Consanguineous Families: A Clinical and Molecular Diagnostic Approach With Review of the Literature. 61
27356087 2017
34
The collectins CL-L1, CL-K1 and CL-P1, and their roles in complement and innate immunity. 61
27377710 2016
35
Exploring the genetic basis of 3MC syndrome: Findings in 12 further families. 61
26789649 2016
36
Molecular basis of sugar recognition by collectin-K1 and the effects of mutations associated with 3MC syndrome. 61
25912189 2015
37
The x-ray crystal structure of mannose-binding lectin-associated serine proteinase-3 reveals the structural basis for enzyme inactivity associated with the Carnevale, Mingarelli, Malpuech, and Michels (3MC) syndrome. 61
23792966 2013
38
Structure and function of collectin liver 1 (CL-L1) and collectin 11 (CL-11, CL-K1). 61
22475410 2012
39
[Biological roles of complement and recent topics in clinical medicine]. 61
23198538 2012
40
An enzyme-linked immunosorbent assay (ELISA) for quantification of human collectin 11 (CL-11, CL-K1). 61
22301270 2012
41
Disease-causing mutations in genes of the complement system. 61
21664996 2011
42
Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: variable expression of a single disorder (3MC syndrome)? 61
16096999 2005

Variations for 3mc Syndrome

ClinVar genetic disease variations for 3mc Syndrome:

6 (show top 50) (show all 74)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COLEC11 NM_024027.5(COLEC11):c.505T>C (p.Ser169Pro) SNV Pathogenic 30968 rs387907075 GRCh37: 2:3691397-3691397
GRCh38: 2:3643807-3643807
2 COLEC11 NM_024027.5(COLEC11):c.45del (p.Phe16fs) Deletion Pathogenic 30969 rs1572389284 GRCh37: 2:3651974-3651974
GRCh38: 2:3604384-3604384
3 COLEC11 NM_024027.5(COLEC11):c.610G>A (p.Gly204Ser) SNV Pathogenic 30970 rs387907076 GRCh37: 2:3691502-3691502
GRCh38: 2:3643912-3643912
4 COLEC11 COLEC11, 3-BP DEL, 648CTC Deletion Pathogenic 30971 GRCh37:
GRCh38:
5 COLEC11 COLEC11, 1-BP DEL, 300T Deletion Pathogenic 30972 GRCh37:
GRCh38:
6 COLEC11 COLEC11, EX1-3DEL Deletion Pathogenic 30973 GRCh37:
GRCh38:
7 COLEC10 NM_006438.5(COLEC10):c.528C>G (p.Cys176Trp) SNV Pathogenic 417735 rs773764995 GRCh37: 8:120118124-120118124
GRCh38: 8:119105885-119105885
8 COLEC10 , LOC101927513 NM_006438.5(COLEC10):c.25C>T (p.Arg9Ter) SNV Pathogenic 417733 rs149010496 GRCh37: 8:120079545-120079545
GRCh38: 8:119067306-119067306
9 COLEC10 NM_006438.5(COLEC10):c.228del (p.Gly77fs) Deletion Pathogenic 417734 rs1060505022 GRCh37: 8:120103393-120103393
GRCh38: 8:119091154-119091154
10 COLEC10 , LOC101927513 NM_006438.5(COLEC10):c.128_129del (p.Thr43fs) Microsatellite Pathogenic 992663 GRCh37: 8:120079640-120079641
GRCh38: 8:119067401-119067402
11 MASP1 NM_139125.4(MASP1):c.1489C>T (p.His497Tyr) SNV Pathogenic 30074 rs387906752 GRCh37: 3:186954170-186954170
GRCh38: 3:187236382-187236382
12 MASP1 NM_139125.4(MASP1):c.1888T>C (p.Cys630Arg) SNV Pathogenic 30075 rs387906753 GRCh37: 3:186953771-186953771
GRCh38: 3:187235983-187235983
13 MASP1 NM_139125.4(MASP1):c.1997G>A (p.Gly666Glu) SNV Pathogenic 30076 rs387906754 GRCh37: 3:186953662-186953662
GRCh38: 3:187235874-187235874
14 MASP1 NM_139125.4(MASP1):c.2059G>A (p.Gly687Arg) SNV Pathogenic 30077 rs533236263 GRCh37: 3:186953600-186953600
GRCh38: 3:187235812-187235812
15 MASP1 NM_139125.4(MASP1):c.870G>A (p.Trp290Ter) SNV Pathogenic 30078 rs763360042 GRCh37: 3:186970978-186970978
GRCh38: 3:187253190-187253190
16 CHD7 NM_017780.4(CHD7):c.5405G>A (p.Gly1802Asp) SNV Pathogenic 981683 GRCh37: 8:61763052-61763052
GRCh38: 8:60850493-60850493
17 MASP1 NC_000003.12:g.(?_187235664)_(187256880_?)del Deletion Pathogenic 650705 GRCh37: 3:186953452-186974668
GRCh38: 3:187235664-187256880
18 MASP1 NM_139125.4(MASP1):c.812dup (p.Ser272fs) Duplication Pathogenic 572584 rs1560255926 GRCh37: 3:186971035-186971036
GRCh38: 3:187253247-187253248
19 overlap with 16 genes NC_000003.11:g.(?_186256465)_(187009440_?)del Deletion Pathogenic 832891 GRCh37: 3:186256465-187009440
GRCh38:
20 MASP1 NM_139125.4(MASP1):c.913C>T (p.Gln305Ter) SNV Pathogenic 981738 GRCh37: 3:186969520-186969520
GRCh38: 3:187251732-187251732
21 MASP1 NM_139125.4(MASP1):c.2185T>C (p.Ter729Arg) SNV Pathogenic 998338 GRCh37: 3:186953474-186953474
GRCh38: 3:187235686-187235686
22 SLC26A2 NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp) SNV Pathogenic 4089 rs104893915 GRCh37: 5:149359991-149359991
GRCh38: 5:149980428-149980428
23 SLC26A2 NM_000112.3(SLC26A2):c.532C>T (p.Arg178Ter) SNV Pathogenic 4092 rs104893919 GRCh37: 5:149357747-149357747
GRCh38: 5:149978184-149978184
24 MASP1 NM_139125.4(MASP1):c.2186G>A (p.Ter729=) SNV Pathogenic 1031636 GRCh37: 3:186953473-186953473
GRCh38: 3:187235685-187235685
25 MASP1 NM_139125.4(MASP1):c.433del (p.Glu145fs) Deletion Pathogenic 1031637 GRCh37: 3:186978643-186978643
GRCh38: 3:187260855-187260855
26 COLEC11 NM_024027.5(COLEC11):c.26del (p.Gly9fs) Deletion Pathogenic 1032153 GRCh37: 2:3651954-3651954
GRCh38: 2:3604364-3604364
27 MASP1 NM_139125.4(MASP1):c.518del (p.Ile173fs) Deletion Pathogenic 807629 rs1579537069 GRCh37: 3:186978558-186978558
GRCh38: 3:187260770-187260770
28 overlap with 16 genes NC_000003.11:g.(?_186256465)_(186980528_?)del Deletion Pathogenic 531899 GRCh37: 3:186256465-186980528
GRCh38:
29 SLC26A2 NM_000112.3(SLC26A2):c.-26+2T>C SNV Pathogenic 4097 rs386833492 GRCh37: 5:149340544-149340544
GRCh38: 5:149960981-149960981
30 SLC26A2 NM_000112.3(SLC26A2):c.1957T>A (p.Cys653Ser) SNV Likely pathogenic 4098 rs104893924 GRCh37: 5:149361113-149361113
GRCh38: 5:149981550-149981550
31 MASP1 NM_001879.6(MASP1):c.1809+1G>A SNV Likely pathogenic 931653 GRCh37: 3:186940914-186940914
GRCh38: 3:187223126-187223126
32 MASP1 NM_139125.4(MASP1):c.992_993del (p.Thr331fs) Microsatellite Likely pathogenic 931999 GRCh37: 3:186969440-186969441
GRCh38: 3:187251652-187251653
33 MASP1 NM_139125.4(MASP1):c.1492dup (p.Val498fs) Duplication Likely pathogenic 932000 GRCh37: 3:186954166-186954167
GRCh38: 3:187236378-187236379
34 MASP1 NM_139125.4(MASP1):c.910C>A (p.Leu304Ile) SNV Uncertain significance 290067 rs145057248 GRCh37: 3:186969523-186969523
GRCh38: 3:187251735-187251735
35 MASP1 NM_139125.4(MASP1):c.1993G>A (p.Gly665Ser) SNV Uncertain significance 846202 GRCh37: 3:186953666-186953666
GRCh38: 3:187235878-187235878
36 MASP1 NM_139125.4(MASP1):c.1226C>G (p.Thr409Arg) SNV Uncertain significance 850576 GRCh37: 3:186961274-186961274
GRCh38: 3:187243486-187243486
37 MASP1 NM_139125.4(MASP1):c.1910G>A (p.Arg637His) SNV Uncertain significance 1015891 GRCh37: 3:186953749-186953749
GRCh38: 3:187235961-187235961
38 MASP1 NM_139125.4(MASP1):c.722C>T (p.Pro241Leu) SNV Uncertain significance 1026839 GRCh37: 3:186974474-186974474
GRCh38: 3:187256686-187256686
39 MASP1 NM_139125.4(MASP1):c.1508G>A (p.Arg503His) SNV Uncertain significance 837910 GRCh37: 3:186954151-186954151
GRCh38: 3:187236363-187236363
40 MASP1 NM_139125.4(MASP1):c.125G>A (p.Ser42Asn) SNV Uncertain significance 840149 GRCh37: 3:187003725-187003725
GRCh38: 3:187285937-187285937
41 MASP1 NM_139125.4(MASP1):c.2183G>A (p.Arg728Gln) SNV Uncertain significance 992549 GRCh37: 3:186953476-186953476
GRCh38: 3:187235688-187235688
42 MASP1 NM_139125.4(MASP1):c.674A>G (p.Asn225Ser) SNV Uncertain significance 286640 rs145045341 GRCh37: 3:186974522-186974522
GRCh38: 3:187256734-187256734
43 MASP1 NM_139125.4(MASP1):c.731A>G (p.Tyr244Cys) SNV Uncertain significance 283865 rs28945071 GRCh37: 3:186974465-186974465
GRCh38: 3:187256677-187256677
44 MASP1 NM_139125.4(MASP1):c.49G>T (p.Ala17Ser) SNV Uncertain significance 1037785 GRCh37: 3:187003801-187003801
GRCh38: 3:187286013-187286013
45 COLEC11 NM_024027.5(COLEC11):c.307C>T (p.Pro103Ser) SNV Uncertain significance 1028290 GRCh37: 2:3687900-3687900
GRCh38: 2:3640310-3640310
46 MASP1 NM_001879.6(MASP1):c.1358G>A (p.Arg453His) SNV Uncertain significance 1029389 GRCh37: 3:186947631-186947631
GRCh38: 3:187229843-187229843
47 MASP1 NM_001879.6(MASP1):c.1809+4A>G SNV Uncertain significance 1029544 GRCh37: 3:186940911-186940911
GRCh38: 3:187223123-187223123
48 MASP1 NM_001879.5(MASP1):c.1442-5C>G SNV Uncertain significance 626136 rs138989954 GRCh37: 3:186944313-186944313
GRCh38: 3:187226525-187226525
49 MASP1 NM_139125.4(MASP1):c.322C>T (p.Leu108Phe) SNV Uncertain significance 646164 rs1476401872 GRCh37: 3:186980424-186980424
GRCh38: 3:187262636-187262636
50 MASP1 NM_139125.4(MASP1):c.863G>A (p.Arg288Gln) SNV Uncertain significance 285534 rs116001173 GRCh37: 3:186970985-186970985
GRCh38: 3:187253197-187253197

Expression for 3mc Syndrome

Search GEO for disease gene expression data for 3mc Syndrome.

Pathways for 3mc Syndrome

Pathways related to 3mc Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Complement and coagulation cascades hsa04610

Pathways related to 3mc Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.74 MBL2 MASP2 MASP1 KIR3DL1 FCN3 FCN2
2 11.89 MBL2 COLEC12 COLEC11 C1R
3 11.88 MBL2 MASP2 MASP1 C1S C1R
4
Show member pathways
11.7 MBL2 MASP2 MASP1 FCN3 FCN2 C1S
5 11.64 MBL2 MASP2 MASP1 C1S C1R
6
Show member pathways
11.63 MASP1 COLEC12 COLEC11
7
Show member pathways
11.48 MBL2 MASP2 MASP1 FCN3 FCN2 FCN1
8
Show member pathways
11.46 MBL2 MASP2 MASP1 C1S C1R

GO Terms for 3mc Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.96 MBL2 MASP2 MASP1 FCN3 FCN2 FCN1
2 extracellular space GO:0005615 9.7 MBL2 MASP2 MASP1 FCN3 FCN2 FCN1
3 collagen-containing extracellular matrix GO:0062023 9.62 MBL2 FCN3 FCN2 FCN1
4 blood microparticle GO:0072562 9.46 FCN3 FCN2 C1S C1R
5 collagen trimer GO:0005581 9.17 MBL2 FCN3 FCN2 FCN1 COLEC12 COLEC11

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

# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 9.91 MBL2 MASP2 MASP1 FCN3 FCN2 FCN1
2 innate immune response GO:0045087 9.85 MBL2 MASP2 MASP1 FCN3 FCN2 FCN1
3 complement activation, classical pathway GO:0006958 9.67 MBL2 MASP2 C1S C1R
4 receptor-mediated endocytosis GO:0006898 9.63 MASP1 COLEC12 COLEC11
5 complement activation, lectin pathway GO:0001867 9.56 MBL2 MASP2 MASP1 FCN3 FCN2 FCN1
6 recognition of apoptotic cell GO:0043654 9.5 FCN3 FCN2 FCN1
7 negative regulation of viral entry into host cell GO:0046597 9.43 FCN3 FCN1
8 opsonization GO:0008228 9.4 MBL2 FCN2
9 complement activation GO:0006956 9.32 MBL2 MASP2 MASP1 FCN3 FCN2 FCN1

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

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.85 MASP2 MASP1 COLEC11 C1S C1R
2 serine-type endopeptidase activity GO:0004252 9.62 MASP2 MASP1 C1S C1R
3 antigen binding GO:0003823 9.61 FCN3 FCN2 FCN1
4 serine-type peptidase activity GO:0008236 9.56 MASP2 MASP1 C1S C1R
5 pattern recognition receptor activity GO:0038187 9.4 FCN1 COLEC12
6 carbohydrate derivative binding GO:0097367 9.37 FCN2 FCN1
7 mannose binding GO:0005537 9.33 MBL2 COLEC11 COLEC10
8 calcium-dependent protein binding GO:0048306 9.26 MBL2 MASP2 MASP1 FCN2
9 carbohydrate binding GO:0030246 9.23 MBL2 FCN3 FCN2 FCN1 COLEC12 COLEC11

Sources for 3mc Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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