MCID: MCH010
MIFTS: 14

Michels Syndrome malady

Rare diseases category

Summaries for Michels Syndrome

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NIH Rare Diseases:41 Michels syndrome is an extremely rare disorder characterized by the eyelid triad of blepharophimosis (a narrowing of the eye opening), blepharoptosis and epicanthus inversus (an upward fold of the skin of the lower eyelid near the inner corner of the eye), skeletal defects including craniosynostosis, cranial asymmetry, abnormality of the occipital bone (at the base of the skull), and radioulnar synostosis, cleft lip and palate, and mental deficiency. only 10 cases have been reported in the medical literature. while the underlying cause of this condition remains unknown, it is believed to be transmitted as an autosomal recessive trait.  based on phenotypic overlap and autosomal recessive inheritance, some researchers have suggested that michels, malpuech, carnevale and mingarelli syndromes represent a spectrum and should be referred to a 3mc syndrome (for malpuech-michels-mingarelli-carnevale). last updated: 8/4/2010

MalaCards based summary: Michels Syndrome, also known as oculopalatoskeletal syndrome, is related to 3mc syndrome 2 and 3mc syndrome 1. An important gene associated with Michels Syndrome is MASP1 (mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)). Affiliated tissues include eye, bone and skin.

Wikipedia:63 Michels syndrome is a syndrome characterised by intellectual disability, craniosynostosis,... more...

Aliases & Classifications for Michels Syndrome

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Michels Syndrome, Aliases & Descriptions:

Name: Michels Syndrome 41
Oculopalatoskeletal Syndrome 41 60
 
Craniosynostosis with Lid Anomalies 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases


Related Diseases for Michels Syndrome

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

idRelated DiseaseScoreTop Affiliating Genes
13mc syndrome 210.1
23mc syndrome 110.1
3craniosynostosis10.1
43mc syndrome10.1
5carnevale syndrome10.1

Graphical network of diseases related to Michels Syndrome:



Diseases related to michels syndrome

Symptoms for Michels Syndrome

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Drugs & Therapeutics for Michels Syndrome

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Drug clinical trials:

Search ClinicalTrials for Michels Syndrome

Search NIH Clinical Center for Michels Syndrome

Genetic Tests for Michels Syndrome

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Anatomical Context for Michels Syndrome

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MalaCards organs/tissues related to Michels Syndrome:

31
Eye, Bone, Skin

Animal Models for Michels Syndrome or affiliated genes

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Publications for Michels Syndrome

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Articles related to Michels Syndrome:

idTitleAuthorsYear
1
Michels syndrome: The first case report from India and review of literature. (25370402)
2014
2
MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes. (21035106)
2010
3
Three additional cases of the Michels syndrome. (17937425)
2007
4
Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: variable expression of a single disorder (3MC syndrome)? (16096999)
2005
5
Michels syndrome in a Brazilian girl born to consanguineous parents. (7677137)
1995
6
Anterior segment anomalies of the eye, clefting and skeletal abnormalities in two sibs of consanguineous parents: Michels syndrome or new syndrome? (7981860)
1994
7
Craniosynostosis and lid anomalies: report of a girl with Michels syndrome. (2240039)
1990

Variations for Michels Syndrome

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Clinvar genetic disease variations for Michels Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1MASP1NM_139125.3(MASP1): c.1489C> T (p.His497Tyr)single nucleotide variantPathogenicrs387906752GRCh37Chr 3, 186954170: 186954170
2MASP1NM_139125.3(MASP1): c.1888T> C (p.Cys630Arg)single nucleotide variantPathogenicrs387906753GRCh37Chr 3, 186953771: 186953771
3MASP1NM_139125.3(MASP1): c.1997G> A (p.Gly666Glu)single nucleotide variantPathogenicrs387906754GRCh37Chr 3, 186953662: 186953662

Expression for genes affiliated with Michels Syndrome

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Search GEO for disease gene expression data for Michels Syndrome.

Pathways for genes affiliated with Michels Syndrome

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Compounds for genes affiliated with Michels Syndrome

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GO Terms for genes affiliated with Michels Syndrome

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Products for genes affiliated with Michels Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Michels Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet