loading...| Preferred Name |
MYH9-related disease |
|
| Synonyms |
MYH9-related syndrome MYH9-RD MYH9-related syndromic thrombocytopenia MYH9-related disorder |
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| Definitions |
MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_182050 |
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| alternative_term |
MYH9-related syndrome MYH9-RD MYH9-related syndromic thrombocytopenia MYH9-related disorder |
|
| definition |
MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD. |
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| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182050 |
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| has_age_of_onset |
Adolescent Adult Childhood Infancy Neonatal |
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| has_inheritance |
Autosomal dominant |
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| hasDbXref |
MedDRA:10079437 MeSH:C535507 OMIM:155100 ICD-11:3B64.01 ICD-10:D69.4 UMLS:C5200934 |
|
| label |
MYH9-related disease |
|
| notation |
ORPHA:182050 |
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| part_of |
http://www.orpha.net/ORDO/Orphanet_90642 |
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| prefixIRI |
ORDO:Orphanet_182050 |
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| prefLabel |
MYH9-related disease |
|
| present_in |
Europe AND has_point_prevalence_average_value : 0.3 AND has_point_prevalence_range : 1-9 / 1 000 000 Italy AND has_point_prevalence_average_value : 0.29 AND has_point_prevalence_range : 1-9 / 1 000 000 |
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| treeView |
http://www.orpha.net/ORDO/Orphanet_90642 |
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| subClassOf |