loading...| Preferred Name |
MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS |
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| Synonyms |
EPSTEIN SYNDROME APSM, FORMERLY MACROTHROMBOCYTOPENIA, NEPHRITIS, DEAFNESS, AND LEUKOCYTE INCLUSIONS DOHLE LEUKOCYTE INCLUSIONS WITH GIANT PLATELETS MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS MAY-HEGGLIN ANOMALY FTNS MHA ALPORT SYNDROME WITH MACROTHROMBOCYTOPENIA, FORMERLY MACROTHROMBOCYTOPENIA WITH DISPERSED LEUKOCYTIC INCLUSIONS MACROTHROMBOCYTOPENIA, NEPHRITIS, AND DEAFNESS FECHTNER SYNDROME BLEEDING DISORDER, PLATELET-TYPE, 6 MACROTHROMBOCYTOPENIA WITH LEUKOCYTE INCLUSIONS SEBASTIAN PLATELET SYNDROME SBS EPSTNS BDPLT6 MATINS SEBASTIAN SYNDROME GIANT PLATELET SYNDROME WITH THROMBOCYTOPENIA |
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| ID |
http://purl.bioontology.org/ontology/OMIM/155100 |
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| altLabel |
EPSTEIN SYNDROME APSM, FORMERLY MACROTHROMBOCYTOPENIA, NEPHRITIS, DEAFNESS, AND LEUKOCYTE INCLUSIONS DOHLE LEUKOCYTE INCLUSIONS WITH GIANT PLATELETS MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS MAY-HEGGLIN ANOMALY FTNS MHA ALPORT SYNDROME WITH MACROTHROMBOCYTOPENIA, FORMERLY MACROTHROMBOCYTOPENIA WITH DISPERSED LEUKOCYTIC INCLUSIONS MACROTHROMBOCYTOPENIA, NEPHRITIS, AND DEAFNESS FECHTNER SYNDROME BLEEDING DISORDER, PLATELET-TYPE, 6 MACROTHROMBOCYTOPENIA WITH LEUKOCYTE INCLUSIONS SEBASTIAN PLATELET SYNDROME SBS EPSTNS BDPLT6 MATINS SEBASTIAN SYNDROME GIANT PLATELET SYNDROME WITH THROMBOCYTOPENIA |
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| cui |
C0403445 C0398641 C5200934 C1842035 |
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| Gene Locus |
22q11.2 |
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| Gene Symbol |
MHA FTNS MYH9 MATINS DFNA17 BDPLT6 |
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| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU036383 http://purl.bioontology.org/ontology/OMIM/MTHU024486 http://purl.bioontology.org/ontology/OMIM/MTHU074637 http://purl.bioontology.org/ontology/OMIM/MTHU009110 http://purl.bioontology.org/ontology/OMIM/MTHU074640 http://purl.bioontology.org/ontology/OMIM/MTHU000212 http://purl.bioontology.org/ontology/OMIM/MTHU000436 http://purl.bioontology.org/ontology/OMIM/MTHU074638 http://purl.bioontology.org/ontology/OMIM/MTHU002227 http://purl.bioontology.org/ontology/OMIM/MTHU074639 http://purl.bioontology.org/ontology/OMIM/MTHU074641 http://purl.bioontology.org/ontology/OMIM/MTHU036917 http://purl.bioontology.org/ontology/OMIM/MTHU036764 http://purl.bioontology.org/ontology/OMIM/MTHU036916 http://purl.bioontology.org/ontology/OMIM/MTHU000013 http://purl.bioontology.org/ontology/OMIM/MTHU073681 |
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| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
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| Moved from |
600208 153650 605249 137560 153640 |
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| notation |
155100 |
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| OMIM Entry Type |
3 |
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| OMIM MimType Value |
pound |
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| prefLabel |
MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS |
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| Scope Statement |
35% sporadic cases vs. 65% familial cases [MISCELLANEOUS] May-Hegglin anomaly - thrombocytopenia, large platelets, and leukocyte inclusions (clustered ribosomes and parallel filaments) Sebastian syndrome - thrombocytopenia, large platelets, and leukocyte inclusions (random ribosomes and dispersed filaments) Fechtner syndrome - thrombocytopenia, large platelets, and leukocyte inclusions plus sensorineural hearing loss, cataracts, and nephritis Epstein syndrome - thrombocytopenia, large platelets, and absence of leukocyte inclusions plus sensorineural hearing loss, and nephritis Alport syndrome with macrothrombocytopenia: thrombocytopenia, large platelets, and absence of leukocyte inclusions plus sensorineural hearing loss, cataracts, and nephritis [MISCELLANEOUS] Severe abnormal bleeding are rare [MISCELLANEOUS] Caused by mutation in the myosin, heavy polypeptide-9, nonmuscle gene (MYH9, 160775.0001) [MOLECULAR BASIS] Macrothrombocytopenia and leukocyte inclusion bodies present at birth [MISCELLANEOUS] Historically, the following eponyms were used to describe the MYH9 macrothrombocytopenias - [MISCELLANEOUS] |
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| tui |
T047 |