3MC3
MCID: 3MC004
MIFTS: 29

3mc Syndrome 3 (3MC3)

Categories: Eye diseases, Genetic diseases, Reproductive diseases

Aliases & Classifications for 3mc Syndrome 3

MalaCards integrated aliases for 3mc Syndrome 3:

Name: 3mc Syndrome 3 57 12 72 29 6
Malpuech Facial Clefting Syndrome 72 70
3mc3 57 72
Malpuech Facial Clefting Syndrome, Formerly 57
Facial Clefting Syndrome, Gypsy Type 57
Facial Clefting Syndrome Gypsy Type 72
Syndrome, 3mc, Type 3 39
Malpuech Syndrome 72

Characteristics:

OMIM®:

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

Miscellaneous:
based on report of 3 patients (last curated april 2017)


HPO:

31
3mc syndrome 3:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for 3mc Syndrome 3

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). (248340) (Updated 05-Apr-2021)

MalaCards based summary : 3mc Syndrome 3, also known as malpuech facial clefting syndrome, is related to 3mc syndrome and cleft palate, cardiac defect, genital anomalies, and ectrodactyly. An important gene associated with 3mc Syndrome 3 is COLEC10 (Collectin Subfamily Member 10). Affiliated tissues include kidney, and related phenotypes are global developmental delay and corneal opacity

Disease Ontology : 12 A 3MC syndrome that has material basis in a compound heterozygous mutation in the COLEC10 gene on chromosome 8q24.

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

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

(show all 19)
# Related Disease Score Top Affiliating Genes
1 3mc syndrome 31.6 LOC101927513 COLEC10
2 cleft palate, cardiac defect, genital anomalies, and ectrodactyly 11.0
3 cleft lip 10.2
4 cleft palate, isolated 10.2
5 hypertelorism 10.2
6 cleft lip/palate 10.2
7 ptosis 10.1
8 penis agenesis 10.1
9 epicanthus 9.9
10 strabismus 9.9
11 wolf-hirschhorn syndrome 9.9
12 3mc syndrome 1 9.9
13 3mc syndrome 2 9.9
14 umbilical hernia 9.9
15 omphalocele 9.9
16 blepharophimosis 9.9
17 hypospadias 9.9
18 craniosynostosis 9.9
19 mechanical strabismus 9.9

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



Diseases related to 3mc Syndrome 3

Symptoms & Phenotypes for 3mc Syndrome 3

Human phenotypes related to 3mc Syndrome 3:

31 (show all 26)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 very rare (1%) HP:0001263
2 corneal opacity 31 very rare (1%) HP:0007957
3 hypertelorism 31 very rare (1%) HP:0000316
4 short stature 31 very rare (1%) HP:0004322
5 cleft palate 31 very rare (1%) HP:0000175
6 cryptorchidism 31 very rare (1%) HP:0000028
7 horseshoe kidney 31 very rare (1%) HP:0000085
8 micropenis 31 very rare (1%) HP:0000054
9 cleft upper lip 31 very rare (1%) HP:0000204
10 highly arched eyebrow 31 very rare (1%) HP:0002553
11 blepharophimosis 31 very rare (1%) HP:0000581
12 sacral dimple 31 very rare (1%) HP:0000960
13 radioulnar synostosis 31 very rare (1%) HP:0002974
14 diastasis recti 31 very rare (1%) HP:0001540
15 feeding difficulties 31 very rare (1%) HP:0011968
16 clinodactyly 31 very rare (1%) HP:0030084
17 preaxial polydactyly 31 very rare (1%) HP:0100258
18 epicanthus inversus 31 very rare (1%) HP:0000537
19 auricular pit 31 very rare (1%) HP:0030025
20 intellectual disability 31 HP:0001249
21 ptosis 31 HP:0000508
22 hearing impairment 31 HP:0000365
23 growth delay 31 HP:0001510
24 bifid scrotum 31 HP:0000048
25 facial cleft 31 HP:0002006
26 penoscrotal hypospadias 31 HP:0000808

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
ptosis
epicanthus inversus

Head And Neck Ears:
dysplastic ears
ear pits

Skeletal Hands:
preaxial polydactyly (in 1 patient)
clinodactyly (in 1 patient)

Growth Other:
short stature

Head And Neck Mouth:
cleft lip, unilateral or bilateral
cleft palate, unilateral or bilateral

Skin Nails Hair Skin:
sacral dimple or crease (in 1 patient)

Clinical features from OMIM®:

248340 (Updated 05-Apr-2021)

Drugs & Therapeutics for 3mc Syndrome 3

Search Clinical Trials , NIH Clinical Center for 3mc Syndrome 3

Genetic Tests for 3mc Syndrome 3

Genetic tests related to 3mc Syndrome 3:

# Genetic test Affiliating Genes
1 3mc Syndrome 3 29 COLEC10

Anatomical Context for 3mc Syndrome 3

MalaCards organs/tissues related to 3mc Syndrome 3:

40
Kidney

Publications for 3mc Syndrome 3

Articles related to 3mc Syndrome 3:

(show all 11)
# Title Authors PMID Year
1
COLEC10 is mutated in 3MC patients and regulates early craniofacial development. 6 57
28301481 2017
2
An atypical case suggesting the possibility of overlap between Malpuech and Juberg-Hayward syndromes. 6 57
11310992 2001
3
Malpuech facial clefting syndrome in a Japanese boy with cardiac defects. 57 61
8851768 1995
4
Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome. 57
21258343 2011
5
Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: variable expression of a single disorder (3MC syndrome)? 57
16096999 2005
6
Malpuech syndrome: three patients and a review. 57
15793834 2005
7
A diagnostic conundrum: two siblings with features overlapping the Kabuki and Malpuech syndromes. A new MCA syndrome? 57
14994242 2004
8
Two sibs with Malpuech syndrome. 57
10482884 1999
9
Two sisters with a syndrome of ocular, skeletal, and abdominal abnormalities (OSA syndrome). 57
8933348 1996
10
Apparent Malpuech syndrome: report on three Brazilian patients with additional signs. 57
7573149 1995
11
A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with growth failure, lip/palate cleft(s), and urogenital anomalies. 57
6660246 1983

Variations for 3mc Syndrome 3

ClinVar genetic disease variations for 3mc Syndrome 3:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COLEC10 NM_006438.5(COLEC10):c.528C>G (p.Cys176Trp) SNV Pathogenic 417735 rs773764995 GRCh37: 8:120118124-120118124
GRCh38: 8:119105885-119105885
2 COLEC10 , LOC101927513 NM_006438.5(COLEC10):c.25C>T (p.Arg9Ter) SNV Pathogenic 417733 rs149010496 GRCh37: 8:120079545-120079545
GRCh38: 8:119067306-119067306
3 COLEC10 NM_006438.5(COLEC10):c.228del (p.Gly77fs) Deletion Pathogenic 417734 rs1060505022 GRCh37: 8:120103393-120103393
GRCh38: 8:119091154-119091154
4 COLEC10 , LOC101927513 NM_006438.5(COLEC10):c.128_129del (p.Thr43fs) Microsatellite Pathogenic 992663 GRCh37: 8:120079640-120079641
GRCh38: 8:119067401-119067402

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

72
# Symbol AA change Variation ID SNP ID
1 COLEC10 p.Cys176Trp VAR_078812 rs773764995

Expression for 3mc Syndrome 3

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

Pathways for 3mc Syndrome 3

GO Terms for 3mc Syndrome 3

Sources for 3mc Syndrome 3

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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