Aliases & Classifications for 3mc Syndrome 3

MalaCards integrated aliases for 3mc Syndrome 3:

Name: 3mc Syndrome 3 53 12 71
Malpuech Facial Clefting Syndrome 71 69
3mc3 53 71
Malpuech Facial Clefting Syndrome, Formerly 53
Facial Clefting Syndrome, Gypsy Type 53
Facial Clefting Syndrome Gypsy Type 71
Malpuech Syndrome 71

Characteristics:

OMIM:

53
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 : 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). (248340)

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

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 : 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.

Related Diseases for 3mc Syndrome 3

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

# Related Disease Score Top Affiliating Genes
1 3mc syndrome 11.4

Symptoms & Phenotypes for 3mc Syndrome 3

Symptoms via clinical synopsis from OMIM:

53
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

Human phenotypes related to 3mc Syndrome 3:

31 (show all 17)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 31 HP:0000316
2 clinodactyly 31 HP:0030084
3 ptosis 31 HP:0000508
4 intellectual disability 31 HP:0001249
5 hearing impairment 31 HP:0000365
6 short stature 31 HP:0004322
7 cleft palate 31 HP:0000175
8 abnormality of the pinna 31 HP:0000377
9 blepharophimosis 31 HP:0000581
10 highly arched eyebrow 31 HP:0002553
11 bifid scrotum 31 HP:0000048
12 cleft upper lip 31 HP:0000204
13 facial cleft 31 HP:0002006
14 micropenis 31 HP:0000054
15 penoscrotal hypospadias 31 HP:0000808
16 epicanthus inversus 31 HP:0000537
17 preaxial polydactyly 31 HP:0100258

Drugs & Therapeutics for 3mc Syndrome 3

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

Genetic Tests for 3mc Syndrome 3

Anatomical Context for 3mc Syndrome 3

Publications for 3mc Syndrome 3

Articles related to 3mc Syndrome 3:

# Title Authors Year
1
Malpuech facial clefting syndrome in a Japanese boy with cardiac defects. ( 8851768 )
1995

Variations for 3mc Syndrome 3

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

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

ClinVar genetic disease variations for 3mc Syndrome 3:

6
# 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
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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