Aliases & Classifications for 3mc Syndrome 3

MalaCards integrated aliases for 3mc Syndrome 3:

Name: 3mc Syndrome 3 54 12 24 71
Malpuech Facial Clefting Syndrome 71 69
3mc3 24 71
Facial Clefting Syndrome Gypsy Type 71
Malpuech Syndrome 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive

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


HPO:

32
3mc syndrome 3:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for 3mc Syndrome 3

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). (248340)

MalaCards based summary : 3mc Syndrome 3, also known as malpuech facial clefting syndrome, is related to 3mc syndrome, and has symptoms including ptosis, micropenis and hypertelorism. An important gene associated with 3mc Syndrome 3 is COLEC10 (Collectin Subfamily Member 10).

UniProtKB/Swiss-Prot : 71 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.

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

Related Diseases for 3mc Syndrome 3

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

id Related Disease Score Top Affiliating Genes
1 3mc syndrome 11.2

Symptoms & Phenotypes for 3mc Syndrome 3

Symptoms via clinical synopsis from OMIM:

54

Growth- Other:
short stature

Head And Neck- Ears:
dysplastic ears
ear pits

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

Head And Neck- Eyes:
ptosis
epicanthus inversus

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

Human phenotypes related to 3mc Syndrome 3:

32 (show all 13)
id Description HPO Frequency HPO Source Accession
1 ptosis 32 HP:0000508
2 micropenis 32 HP:0000054
3 hypertelorism 32 HP:0000316
4 cleft palate 32 HP:0000175
5 intellectual disability 32 HP:0001249
6 bifid scrotum 32 HP:0000048
7 blepharophimosis 32 HP:0000581
8 hearing impairment 32 HP:0000365
9 penoscrotal hypospadias 32 HP:0000808
10 growth delay 32 HP:0001510
11 facial cleft 32 HP:0002006
12 highly arched eyebrow 32 HP:0002553
13 cleft upper lip 32 HP:0000204

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:

id Genetic test Affiliating Genes
1 3mc Syndrome 3 24 COLEC10

Anatomical Context for 3mc Syndrome 3

Publications for 3mc Syndrome 3

Variations for 3mc Syndrome 3

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

71
id Symbol AA change Variation ID SNP ID
1 COLEC10 p.Cys176Trp VAR_078812 rs773764995

ClinVar genetic disease variations for 3mc Syndrome 3:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 COLEC10 NM_006438.4(COLEC10): c.25C> T (p.Arg9Ter) single nucleotide variant Pathogenic rs149010496 GRCh37 Chromosome 8, 120079545: 120079545
2 COLEC10 NM_006438.4(COLEC10): c.226delA (p.Gly77Glufs) deletion Pathogenic rs1060505022 GRCh37 Chromosome 8, 120103393: 120103393
3 COLEC10 NM_006438.4(COLEC10): c.528C> G (p.Cys176Trp) single nucleotide variant Pathogenic rs773764995 GRCh37 Chromosome 8, 120118124: 120118124

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
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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