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Orphanet Rare Disease Ontology
Last uploaded:
December 4, 2024
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| Id | http://www.orpha.net/ORDO/Orphanet_182050
http://www.orpha.net/ORDO/Orphanet_182050
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|---|---|
| Preferred Name | MYH9-related disease |
| 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.
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| Synonyms |
MYH9-related syndrome
MYH9-RD
MYH9-related syndromic thrombocytopenia
MYH9-related disorder
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition_citation | Orphanet |
|---|---|
| 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. |
| label |
MYH9-related disease
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| prefLabel |
MYH9-related disease
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| hasDbXref |
MedDRA:10079437
MeSH:C535507
OMIM:155100
ICD-11:3B64.01
ICD-10:D69.4
UMLS:C5200934
See more
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| notation |
ORPHA:182050
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| alternative_term |
MYH9-related syndrome
MYH9-RD
MYH9-related syndromic thrombocytopenia
MYH9-related disorder
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| 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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| part_of | |
| prefixIRI |
ORDO:Orphanet_182050
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| expertlink | |
| subClassOf | |
| type | |
| has_inheritance |
Autosomal dominant
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| has_age_of_onset |
Adolescent
Adult
Childhood
Infancy
Neonatal
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