Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
- Synonyms
- ALPORT SYNDROME WITH MACROTHROMBOCYTOPENIA; BLEEDING DISORDER, PLATELET-TYPE, 6; DOHLE LEUKOCYTE INCLUSIONS WITH GIANT PLATELETS; Epstein syndrome; Fechtner syndrome; Giant platelet syndrome with thrombocytopenia; MACROTHROMBOCYTOPENIA WITH DISPERSED LEUKOCYTIC INCLUSIONS; MACROTHROMBOCYTOPENIA WITH LEUKOCYTE INCLUSIONS; MACROTHROMBOCYTOPENIA, NEPHRITIS, AND DEAFNESS; MACROTHROMBOCYTOPENIA, NEPHRITIS, DEAFNESS, AND LEUKOCYTE INCLUSIONS; Macrothrombocytopenia and progressive sensorineural deafness; May-Hegglin anomaly; Sebastian platelet syndrome; Sebastian syndrome
- Modes of inheritance
- Autosomal dominant inheritance (Orphanet)
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- GeneReview Scope
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Anna Savoia
- Alessandro Pecci
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (86 available)
Clinical features
Help- Abnormality of blood and blood-forming tissues
- Abnormal bleeding
Abnormal bleeding
- MedGen UID: 264316
- Concept ID: C1458140
- Finding: Pathologic Function
Abnormality of blood and blood-forming tissues
- Abnormal thrombosis
Abnormal thrombosis
- MedGen UID: 871247
- Concept ID: C4025731
- Finding: Anatomical Abnormality
Abnormality of blood and blood-forming tissues
- Epistaxis
Epistaxis
- MedGen UID: 4996
- Concept ID: C0014591
- Finding: Pathologic Function
Abnormality of blood and blood-forming tissues
- Giant platelets
Giant platelets
- MedGen UID: 137700
- Concept ID: C0333864
- Finding: Finding
Abnormality of blood and blood-forming tissues
- Impaired ADP-induced platelet aggregation
Impaired ADP-induced platelet aggregation
- MedGen UID: 870824
- Concept ID: C4025282
- Finding: Finding
Abnormality of blood and blood-forming tissues
- Impaired epinephrine-induced platelet aggregation
Impaired epinephrine-induced platelet aggregation
- MedGen UID: 870285
- Concept ID: C4024727
- Finding: Finding
Abnormality of blood and blood-forming tissues
- Macrothrombocytopenia
Macrothrombocytopenia
- MedGen UID: 414334
- Concept ID: C2751260
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Megakaryocyte dysplasia
Megakaryocyte dysplasia
- MedGen UID: 1611304
- Concept ID: C4540467
- Finding: Finding
Abnormality of blood and blood-forming tissues
- Menorrhagia
Menorrhagia
- MedGen UID: 44358
- Concept ID: C0025323
- Finding: Pathologic Function
Abnormality of blood and blood-forming tissues
- Prolonged bleeding time
Prolonged bleeding time
- MedGen UID: 56231
- Concept ID: C0151529
- Finding: Finding
Abnormality of blood and blood-forming tissues
- Thrombocytopenia
Thrombocytopenia
- MedGen UID: 52737
- Concept ID: C0040034
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Abnormal bleeding
- Abnormality of the cardiovascular system
- Myocardial infarction
Myocardial infarction
- MedGen UID: 10150
- Concept ID: C0027051
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Myocardial infarction
- Abnormality of the genitourinary system
- Abnormality of the kidney
Abnormality of the kidney
- MedGen UID: 78593
- Concept ID: C0266292
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Abnormality of the kidney
- Abnormality of the immune system
- Leukocyte inclusion bodies
Leukocyte inclusion bodies
- MedGen UID: 908819
- Concept ID: C4280711
- Finding: Finding
Abnormality of the immune system
- Neutrophil inclusion bodies
Neutrophil inclusion bodies
- MedGen UID: 867189
- Concept ID: C4021547
- Finding: Finding
Abnormality of the immune system
- Leukocyte inclusion bodies
- Abnormality of the integument
- Bruising susceptibility
Bruising susceptibility
- MedGen UID: 140849
- Concept ID: C0423798
- Finding: Finding
Abnormality of the integument
- Bruising susceptibility
- Ear malformation
- Sensorineural hearing loss disorder
Sensorineural hearing loss disorder
- MedGen UID: 9164
- Concept ID: C0018784
- Finding: Disease or Syndrome
Ear malformation
- Sensorineural hearing loss disorder
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