MCID: MCH010
MIFTS: 15

Michels Syndrome malady

Summaries for Michels Syndrome

Sources:
43NIH Rare Diseases, 64Wikipedia, 33MalaCards
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NIH Rare Diseases:43 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: Michels Syndrome, also known as oculopalatoskeletal syndrome, is related to carnevale syndrome and 3mc syndrome 2. An important gene associated with Michels Syndrome is MASP1 (mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)), and among its related pathways are Binding and Uptake of Ligands by Scavenger Receptors and Scavenging by Class A Receptors. Affiliated tissues include skin.

Wikipedia:64 Michels syndrome is a syndrome characterised by intellectual disability, craniosynostosis,... more...

Aliases & Classifications for Michels Syndrome

Sources:
43NIH Rare Diseases, 61UMLS
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Aliases & Descriptions:

michels syndrome 43
oculopalatoskeletal syndrome 43 61
craniosynostosis with lid anomalies 43


Related Diseases for Michels Syndrome

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Michels Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1carnevale syndrome10.2
23mc syndrome 210.1
33mc syndrome 110.1

Clinical Features for Michels Syndrome

Drugs & Therapeutics for Michels Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Michels Syndrome

Anatomical Context for Michels Syndrome

Sources:
33MalaCards
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MalaCards organs/tissues related to Michels Syndrome:

33
Skin

Animal Models for Michels Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Michels Syndrome

Sources:
51PubMed
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Articles related to Michels Syndrome:

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

Genetic Variations for Michels Syndrome

Expression for genes affiliated with Michels Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Michels Syndrome

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Pathways for genes affiliated with Michels Syndrome

Sources:
54Reactome
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Pathways related to Michels Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1MASP1, COLEC11
29.1MASP1, COLEC11

Compounds for genes affiliated with Michels Syndrome

GO Terms for genes affiliated with Michels Syndrome

Sources:
16Gene Ontology
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Cellular components related to Michels Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:0055769.1MASP1, COLEC11

Products for genes affiliated with Michels Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Michels Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet