MCID: MCH010
MIFTS: 13

Michels Syndrome malady

Summaries for Michels Syndrome

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Sources:
42NIH Rare Diseases, 63Wikipedia, 32MalaCards
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NIH Rare Diseases:42 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 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)), and among its related pathways are Binding and Uptake of Ligands by Scavenger Receptors and Scavenging by Class A Receptors. 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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42NIH Rare Diseases, 60UMLS
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Aliases & Descriptions:

michels syndrome 42
oculopalatoskeletal syndrome 42 60
craniosynostosis with lid anomalies 42


Related Diseases for Michels Syndrome

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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
13mc syndrome 210.1
23mc syndrome 110.1

Clinical Features for Michels Syndrome

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Drugs & Therapeutics for Michels Syndrome

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Sources:
5CenterWatch, 41NIH 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

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Anatomical Context for Michels Syndrome

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32MalaCards
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MalaCards organs/tissues related to Michels Syndrome:

32
Eye, Bone, Skin

Animal Models for Michels Syndrome or affiliated genes

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Publications for Michels Syndrome

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Genetic Variations for Michels Syndrome

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Expression for genes affiliated with Michels Syndrome

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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

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53Reactome
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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

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GO Terms for genes affiliated with Michels Syndrome

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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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Michels Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet