MCID: MCH010
MIFTS: 16

Michels Syndrome malady

Rare diseases category

Summaries for Michels Syndrome

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Sources:
44NIH Rare Diseases, 66Wikipedia, 34MalaCards
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NIH Rare Diseases:44 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 craniosynostosis and carnevale syndrome. 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, skin and bone.

Wikipedia:66 Michels syndrome is a syndrome characterised by intellectual disability, craniosynostosis,... more...

Aliases & Classifications for Michels Syndrome

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Sources:
44NIH Rare Diseases, 63UMLS
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Classifications:

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


Aliases & Descriptions:

michels syndrome 44
oculopalatoskeletal syndrome 44 63
craniosynostosis with lid anomalies 44


Related Diseases for Michels Syndrome

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Sources:
18GeneCards, 19GeneDecks
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Diseases related to Michels Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1craniosynostosis10.1
2carnevale syndrome10.1
33mc syndrome 210.1
43mc syndrome 110.1

Symptoms for Michels Syndrome

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Drugs & Therapeutics for Michels Syndrome

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Genetic Tests for Michels Syndrome

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Anatomical Context for Michels Syndrome

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Sources:
34MalaCards
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MalaCards organs/tissues related to Michels Syndrome:

34
Eye, Skin, Bone

Animal Models for Michels Syndrome or affiliated genes

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Publications for Michels Syndrome

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53PubMed
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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

Variations for Michels Syndrome

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Michels Syndrome:

1
id Gene Name 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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Sources:
2BioGPS, 16Gene 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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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

Sources for Michels Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet