MCID: 3MC001
MIFTS: 29

3mc Syndrome 2

Categories: Genetic diseases, Eye diseases, Bone diseases

Aliases & Classifications for 3mc Syndrome 2

MalaCards integrated aliases for 3mc Syndrome 2:

Name: 3mc Syndrome 2 53 12 71 13
Ptosis of Eyelids with Diastasis Recti and Hip Dysplasia 53 71
Oculo-Skeletal-Abdominal Syndrome 53 71
Carnevale Syndrome 71 69
Osa Syndrome 53 71
3mc2 53 71
Carnevale Krajewska Fischetto Syndrome 71
Carnevale Syndrome, Formerly 53

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
3mc syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for 3mc Syndrome 2

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). For a discussion of genetic heterogeneity of 3MC syndrome, see 3MC1 (257920). (265050)

MalaCards based summary : 3mc Syndrome 2, also known as ptosis of eyelids with diastasis recti and hip dysplasia, is related to 3mc syndrome, and has symptoms including torticollis, hypertelorism and ptosis. An important gene associated with 3mc Syndrome 2 is COLEC11 (Collectin Subfamily Member 11). Affiliated tissues include kidney, testes and eye.

UniProtKB/Swiss-Prot : 71 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.

Disease Ontology : 12 A 3MC syndrome that has material basis in homozygous mutation in the COLEC11 gene on chromosome 2p25.

Related Diseases for 3mc Syndrome 2

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

# Related Disease Score Top Affiliating Genes
1 3mc syndrome 11.6

Symptoms & Phenotypes for 3mc Syndrome 2

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Neck:
torticollis

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

Head And Neck Face:
broad forehead
broad philtrum
prominent premaxilla

Skeletal Skull:
craniosynostosis
asymmetric skull

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 Eyes:
hypertelorism
ptosis
strabismus
blepharophimosis
downslanting palpebral fissures
more
Growth Other:
postnatal growth retardation

Skeletal:
joint hypermobility

Muscle Soft Tissue:
diastasis recti
umbilical depression
abdominal muscle hypoplasia

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

Human phenotypes related to 3mc Syndrome 2:

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

UMLS symptoms related to 3mc Syndrome 2:


torticollis

Drugs & Therapeutics for 3mc Syndrome 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Role of Obstructive Sleep Apnea in Stroke Appearance Completed NCT00613522
2 Dissection of Differentially Expressed Genes and Pathways in Patients With OSAS Before and After CPAP Treatment Completed NCT00498732
3 Effects of Inspiratory Muscles Strengthening Among Coronary Patients on the Sleep Apnea Obstructive Syndrome Recruiting NCT02494648
4 Influence of Craniofacial Restriction on Rebound of Obstructive Sleep Apnea Following Weight Gain Recruiting NCT03051815
5 Effects of CPAP on Diet, Physical Activity, and Cardiovascular Risk Recruiting NCT01944020
6 Cardiopulmonary Exercise Test in Patient With Obstructive Sleep Apnea Not yet recruiting NCT03300700

Search NIH Clinical Center for 3mc Syndrome 2

Genetic Tests for 3mc Syndrome 2

Anatomical Context for 3mc Syndrome 2

MalaCards organs/tissues related to 3mc Syndrome 2:

38
Kidney, Testes, Eye

Publications for 3mc Syndrome 2

Articles related to 3mc Syndrome 2:

# Title Authors Year
1
Asymmetrical skull, ptosis, hypertelorism, high nasal bridge, clefting, umbilical anomalies, and skeletal anomalies in sibs: is Carnevale syndrome a separate entity? ( 17236195 )
2007
2
Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: variable expression of a single disorder (3MC syndrome)? ( 16096999 )
2005

Variations for 3mc Syndrome 2

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

71
# Symbol AA change Variation ID SNP ID
1 COLEC11 p.Ser169Pro VAR_065901 rs387907075
2 COLEC11 p.Gly204Ser VAR_065902 rs387907076

ClinVar genetic disease variations for 3mc Syndrome 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 COLEC11 NM_024027.4(COLEC11): c.505T> C (p.Ser169Pro) single nucleotide variant Pathogenic rs387907075 GRCh37 Chromosome 2, 3691397: 3691397
2 COLEC11 COLEC11, 1-BP DEL, 45C deletion Pathogenic
3 COLEC11 NM_024027.4(COLEC11): c.610G> A (p.Gly204Ser) single nucleotide variant Pathogenic rs387907076 GRCh37 Chromosome 2, 3691502: 3691502
4 COLEC11 COLEC11, 3-BP DEL, 648CTC deletion Pathogenic
5 COLEC11 COLEC11, 1-BP DEL, 300T deletion Pathogenic
6 COLEC11 COLEC11, EX1-3DEL deletion Pathogenic

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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