MCID: 3MC001
MIFTS: 30

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 57 12 75 13
Ptosis of Eyelids with Diastasis Recti and Hip Dysplasia 57 75
Oculo-Skeletal-Abdominal Syndrome 57 75
Carnevale Syndrome 75 73
Osa Syndrome 57 75
3mc2 57 75
Carnevale Krajewska Fischetto Syndrome 75
Carnevale Syndrome, Formerly 57
3mc Syndrome, Type 2 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
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)

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 An important gene associated with 3mc Syndrome 2 is COLEC11 (Collectin Subfamily Member 11). The drug Menthol has been mentioned in the context of this disorder. Affiliated tissues include kidney, testes and eye, and related phenotypes are cryptorchidism and hypospadias

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

UniProtKB/Swiss-Prot : 75 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:

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

Symptoms & Phenotypes for 3mc Syndrome 2

Symptoms via clinical synopsis from OMIM:

57
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 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

Head And Neck Face:
broad forehead
broad philtrum
prominent premaxilla

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

Human phenotypes related to 3mc Syndrome 2:

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

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):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Menthol Approved Not Applicable 2216-51-5 16666

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Obstructive Sleep Apnea and Down Syndrome: Clinical Examination Issue Unknown status NCT02732431 Not Applicable
2 Role of Obstructive Sleep Apnea in Stroke Appearance Completed NCT00613522
3 Dissection of Differentially Expressed Genes and Pathways in Patients With OSAS Before and After CPAP Treatment Completed NCT00498732
4 Effects of Inspiratory Muscles Strengthening Among Coronary Patients on the Sleep Apnea Obstructive Syndrome Recruiting NCT02494648 Not Applicable
5 Influence of Craniofacial Restriction on Rebound of Obstructive Sleep Apnea Following Weight Gain Recruiting NCT03051815
6 Effects of CPAP on Diet, Physical Activity, and Cardiovascular Risk Recruiting NCT01944020 Not Applicable
7 Cardiopulmonary Exercise Test in Patient With Obstructive Sleep Apnea Not yet recruiting NCT03300700
8 Prevalence of Sleep Apnea Syndrome in Patients With Type 1 Diabetes Not yet recruiting NCT03506022 Not Applicable

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:

41
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:

75
# 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 NM_024027.4(COLEC11): c.505T> C (p.Ser169Pro) single nucleotide variant Pathogenic rs387907075 GRCh38 Chromosome 2, 3643807: 3643807
3 COLEC11 COLEC11, 1-BP DEL, 45C deletion Pathogenic
4 COLEC11 NM_024027.4(COLEC11): c.610G> A (p.Gly204Ser) single nucleotide variant Pathogenic rs387907076 GRCh37 Chromosome 2, 3691502: 3691502
5 COLEC11 NM_024027.4(COLEC11): c.610G> A (p.Gly204Ser) single nucleotide variant Pathogenic rs387907076 GRCh38 Chromosome 2, 3643912: 3643912
6 COLEC11 COLEC11, 3-BP DEL, 648CTC deletion Pathogenic
7 COLEC11 COLEC11, 1-BP DEL, 300T deletion Pathogenic
8 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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