MCID: 3MC001
MIFTS: 25

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 54 12 24 71 13
Carnevale Syndrome 71 69
Ptosis of Eyelids with Diastasis Recti and Hip Dysplasia 71
Carnevale Krajewska Fischetto Syndrome 71
Oculo-Skeletal-Abdominal Syndrome 71
Osa Syndrome 71
3mc2 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
3mc syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for 3mc Syndrome 2

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

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

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

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.

Related Diseases for 3mc Syndrome 2

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

id Related Disease Score Top Affiliating Genes
1 3mc syndrome 11.3

Symptoms & Phenotypes for 3mc Syndrome 2

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Neck:
torticollis

Head And Neck- Ears:
hearing loss

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

Skeletal:
joint hypermobility

Head And Neck- Head:
asymmetric head

Genitourinary- Kidneys:
horseshoe kidney (rare)

Skeletal- Spine:
vertebral anomalies

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

Neurologic- Central Nervous System:
mental retardation (rare)

Head And Neck- Eyes:
strabismus
ptosis
hypertelorism
highly arched eyebrows
downward slanted palpebral fissures
more
Head And Neck- Mouth:
cleft palate
cleft lip
downturned corners of the mouth

Head And Neck- Face:
broad forehead
prominent premaxilla
broad philtrum

Growth- Other:
postnatal growth retardation

Genitourinary- External Genitalia Male:
hypospadias (rare)

Skeletal- Skull:
craniosynostosis
asymmetric skull

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

Muscle Soft Tissue:
diastasis recti
abdominal muscle hypoplasia
umbilical depression


Clinical features from OMIM:

265050

Human phenotypes related to 3mc Syndrome 2:

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

UMLS symptoms related to 3mc Syndrome 2:


torticollis

Drugs & Therapeutics for 3mc Syndrome 2

Interventional clinical trials:


id 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 Effects of CPAP on Diet, Physical Activity, and Cardiovascular Risk Recruiting NCT01944020
5 Cardiopulmonary Exercise Test in Patient With Obstructive Sleep Apnea Not yet recruiting NCT03300700
6 Influence of Craniofacial Restriction on Rebound of Obstructive Sleep Apnea Following Weight Gain Not yet recruiting NCT03051815

Search NIH Clinical Center for 3mc Syndrome 2

Genetic Tests for 3mc Syndrome 2

Genetic tests related to 3mc Syndrome 2:

id Genetic test Affiliating Genes
1 3mc Syndrome 2 24 COLEC11

Anatomical Context for 3mc Syndrome 2

MalaCards organs/tissues related to 3mc Syndrome 2:

39
Testes, Kidney

Publications for 3mc Syndrome 2

Variations for 3mc Syndrome 2

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

71
id 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
id 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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