3MC2
MCID: 3MC001
MIFTS: 36

3mc Syndrome 2 (3MC2)

Categories: Bone diseases, Eye diseases, Genetic diseases, Reproductive diseases

Aliases & Classifications for 3mc Syndrome 2

MalaCards integrated aliases for 3mc Syndrome 2:

Name: 3mc Syndrome 2 57 12 72 29 13 6 17
Ptosis of Eyelids with Diastasis Recti and Hip Dysplasia 57 72
Oculo-Skeletal-Abdominal Syndrome 57 72
Carnevale Syndrome 72 70
Osa Syndrome 57 72
3mc2 57 72
Carnevale Krajewska Fischetto Syndrome 72
Carnevale Syndrome, Formerly 57
Syndrome, 3mc, Type 2 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
3mc syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for 3mc Syndrome 2

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). For a discussion of genetic heterogeneity of 3MC syndrome, see 3MC1 (257920). (265050) (Updated 05-Apr-2021)

MalaCards based summary : 3mc Syndrome 2, also known as ptosis of eyelids with diastasis recti and hip dysplasia, is related to 3mc syndrome and alopecia-intellectual disability syndrome, and has symptoms including torticollis An important gene associated with 3mc Syndrome 2 is COLEC11 (Collectin Subfamily Member 11). The drugs Fentanyl and Remifentanil have been mentioned in the context of this disorder. Affiliated tissues include kidney, and related phenotypes are intellectual disability and hearing impairment

Disease Ontology : 12 A 3MC syndrome that has material basis in autosomal recessive inheritance of homozygous mutation in the collectin subfamily member 11 gene (COLEC11) on chromosome 2p25.

UniProtKB/Swiss-Prot : 72 3MC syndrome 2: 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 2

Diseases related to 3mc Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 21)
# Related Disease Score Top Affiliating Genes
1 3mc syndrome 31.8 SLC26A2 COLEC11
2 alopecia-intellectual disability syndrome 11.2
3 apnea, obstructive sleep 10.0
4 3mc syndrome 3 10.0
5 3mc syndrome 1 10.0
6 sleep apnea 10.0
7 epicanthus 9.8
8 hypertelorism 9.8
9 strabismus 9.8
10 pulmonary disease, chronic obstructive 9.8
11 ptosis 9.8
12 blepharophimosis 9.8
13 hypospadias 9.8
14 post-traumatic stress disorder 9.8
15 craniosynostosis 9.8
16 bruxism 9.8
17 sleep disorder 9.8
18 cleft lip 9.8
19 mechanical strabismus 9.8
20 penis agenesis 9.8
21 cleft lip/palate 9.8

Graphical network of the top 20 diseases related to 3mc Syndrome 2:



Diseases related to 3mc Syndrome 2

Symptoms & Phenotypes for 3mc Syndrome 2

Human phenotypes related to 3mc Syndrome 2:

31 (show all 35)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 occasional (7.5%) HP:0001249
2 hearing impairment 31 occasional (7.5%) HP:0000365
3 horseshoe kidney 31 occasional (7.5%) HP:0000085
4 hypospadias 31 occasional (7.5%) HP:0000047
5 radioulnar synostosis 31 occasional (7.5%) HP:0002974
6 ptosis 31 HP:0000508
7 global developmental delay 31 HP:0001263
8 hypertelorism 31 HP:0000316
9 wide nasal bridge 31 HP:0000431
10 abnormal vertebral morphology 31 HP:0003468
11 strabismus 31 HP:0000486
12 cleft palate 31 HP:0000175
13 cryptorchidism 31 HP:0000028
14 postnatal growth retardation 31 HP:0008897
15 joint hypermobility 31 HP:0001382
16 downslanted palpebral fissures 31 HP:0000494
17 limited elbow movement 31 HP:0002996
18 downturned corners of mouth 31 HP:0002714
19 cleft upper lip 31 HP:0000204
20 highly arched eyebrow 31 HP:0002553
21 hip dislocation 31 HP:0002827
22 prominent nasal bridge 31 HP:0000426
23 broad forehead 31 HP:0000337
24 blepharophimosis 31 HP:0000581
25 abnormality of the vertebral column 31 HP:0000925
26 craniosynostosis 31 HP:0001363
27 diastasis recti 31 HP:0001540
28 broad philtrum 31 HP:0000289
29 depressed nasal tip 31 HP:0000437
30 torticollis 31 HP:0000473
31 hypoplasia of the musculature 31 HP:0009004
32 epicanthus inversus 31 HP:0000537
33 caudal appendage 31 HP:0002825
34 prominence of the premaxilla 31 HP:0010759
35 partial abdominal muscle agenesis 31 HP:0005243

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
ptosis
hypertelorism
strabismus
blepharophimosis
downslanting palpebral fissures
more
Growth Other:
postnatal growth retardation

Head And Neck Face:
broad forehead
broad philtrum
prominent premaxilla

Muscle Soft Tissue:
diastasis recti
umbilical depression
abdominal muscle hypoplasia

Head And Neck Nose:
broad nasal bridge
high nasal bridge
broad, flat nasal tip

Skeletal Spine:
vertebral anomalies

Skeletal Limbs:
limited elbow mobility
radioulnar synostosis (in some patients)

Neurologic Central Nervous System:
mental retardation (rare)

Head And Neck Head:
asymmetric head

Head And Neck Mouth:
cleft palate
cleft lip
downturned corners of the mouth

Skeletal:
joint hypermobility

Skeletal Skull:
craniosynostosis
asymmetric skull

Head And Neck Neck:
torticollis

Head And Neck Ears:
hearing loss

Genitourinary Kidneys:
horseshoe kidney (rare)

Genitourinary External Genitalia Male:
hypospadias (rare)

Skin Nails Hair Skin:
caudal appendage (sacral cyst)

Abdomen External Features:
umbilical depression

Clinical features from OMIM®:

265050 (Updated 05-Apr-2021)

UMLS symptoms related to 3mc Syndrome 2:


torticollis

Drugs & Therapeutics for 3mc Syndrome 2

Drugs for 3mc Syndrome 2 (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 2

Genetic Tests for 3mc Syndrome 2

Genetic tests related to 3mc Syndrome 2:

# Genetic test Affiliating Genes
1 3mc Syndrome 2 29 COLEC11

Anatomical Context for 3mc Syndrome 2

MalaCards organs/tissues related to 3mc Syndrome 2:

40
Kidney

Publications for 3mc Syndrome 2

Articles related to 3mc Syndrome 2:

(show all 26)
# Title Authors PMID Year
1
Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome. 6 57
21258343 2011
2
Two sisters with a syndrome of ocular, skeletal, and abdominal abnormalities (OSA syndrome). 57 6
8933348 1996
3
Ptosis of eyelids, strabismus, diastasis recti, hip defect, cryptorchidism, and developmental delay in two sibs. 57 6
2569826 1989
4
COLEC10 is mutated in 3MC patients and regulates early craniofacial development. 57
28301481 2017
5
Exploring the genetic basis of 3MC syndrome: Findings in 12 further families. 57
26789649 2016
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
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
11
Asymmetrical skull, ptosis, hypertelorism, high nasal bridge, clefting, umbilical anomalies, and skeletal anomalies in sibs: is Carnevale syndrome a separate entity? 57
17236195 2007
12
Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: variable expression of a single disorder (3MC syndrome)? 57
16096999 2005
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
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance. 6
11241838 2001
19
Sulphate transporter gene mutations in apparently isolated club foot. 6
11303514 2001
20
Identification of the Finnish founder mutation for diastrophic dysplasia (DTD). 6
10482955 1999
21
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
22
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
23
Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. 6
8528239 1996
24
Michels syndrome in a Brazilian girl born to consanguineous parents. 57
7677137 1995
25
Theory of spin Hall effect: extension of the Drude model. 61
18233171 2007
26
The appearance of an interval of energies that contain the whole diamagnetic contribution to NMR magnetic shieldings. 61
17949140 2007

Variations for 3mc Syndrome 2

ClinVar genetic disease variations for 3mc Syndrome 2:

6 (show all 14)
# 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 SLC26A2 NM_000112.3(SLC26A2):c.-26+2T>C SNV Pathogenic 4097 rs386833492 GRCh37: 5:149340544-149340544
GRCh38: 5:149960981-149960981
8 SLC26A2 NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp) SNV Pathogenic 4089 rs104893915 GRCh37: 5:149359991-149359991
GRCh38: 5:149980428-149980428
9 SLC26A2 NM_000112.3(SLC26A2):c.532C>T (p.Arg178Ter) SNV Pathogenic 4092 rs104893919 GRCh37: 5:149357747-149357747
GRCh38: 5:149978184-149978184
10 COLEC11 NM_024027.5(COLEC11):c.26del (p.Gly9fs) Deletion Pathogenic 1032153 GRCh37: 2:3651954-3651954
GRCh38: 2:3604364-3604364
11 SLC26A2 NM_000112.3(SLC26A2):c.1957T>A (p.Cys653Ser) SNV Likely pathogenic 4098 rs104893924 GRCh37: 5:149361113-149361113
GRCh38: 5:149981550-149981550
12 COLEC11 NM_024027.5(COLEC11):c.307C>T (p.Pro103Ser) SNV Uncertain significance 1028290 GRCh37: 2:3687900-3687900
GRCh38: 2:3640310-3640310
13 COLEC11 NM_024027.5(COLEC11):c.433G>A (p.Gly145Ser) SNV Uncertain significance 638367 rs748736842 GRCh37: 2:3691325-3691325
GRCh38: 2:3643735-3643735
14 COLEC11 NM_024027.5(COLEC11):c.28G>T (p.Val10Phe) SNV Uncertain significance 992511 GRCh37: 2:3651958-3651958
GRCh38: 2:3604368-3604368

UniProtKB/Swiss-Prot genetic disease variations for 3mc Syndrome 2:

72
# Symbol AA change Variation ID SNP ID
1 COLEC11 p.Ser169Pro VAR_065901 rs387907075
2 COLEC11 p.Gly204Ser VAR_065902 rs387907076

Expression for 3mc Syndrome 2

Search GEO for disease gene expression data for 3mc Syndrome 2.

Pathways for 3mc Syndrome 2

GO Terms for 3mc Syndrome 2

Sources for 3mc Syndrome 2

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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