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Items: 9

1.

MYH9 related disorders

MYH9-related disorders (MYH9RD) are characterized by large platelets (i.e., >40% of platelets >3.9 µm in diameter) and thrombocytopenia (platelet count <150 x 109/L), both of which are present from birth. MYH9RD is variably associated with young-adult onset of progressive sensorineural hearing loss, presenile cataract, elevation of liver enzymes, and renal disease manifesting initially as glomerular nephropathy. Before identification of the gene in which mutation is causative, MYH9, individuals with MYH9RD were diagnosed as having Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, or Sebastian syndrome based on the combination of different clinical findings at the time of diagnosis. However, the realization that they all are due to heterozygous pathogenic variants in MYH9 and that the clinical findings often worsen throughout life as a result of late onset of non-hematologic manifestations has led the four conditions to be regarded as one disorder, now known as MYH9RD. [from GTR]

MedGen UID:
441714
Concept ID:
CN073381
Disease or Syndrome
2.

Macrothrombocytopenia

MedGen UID:
414334
Concept ID:
C2751260
Disease or Syndrome
3.

Increased megakaryocyte count

Increased megakaryocyte number, i.e., of platelet precursor cells, present in the bone marrow. [from HPO]

MedGen UID:
870733
Concept ID:
C4025187
Finding
4.

Focal Segmental Glomerulosclerosis 10

MedGen UID:
833743
Concept ID:
CN230140
Disease or Syndrome
5.

Renal disease with cataract

MedGen UID:
798459
Concept ID:
CN207058
Disease or Syndrome
6.

Cardiac disease with cataract

MedGen UID:
797372
Concept ID:
CN207059
Disease or Syndrome
7.

Megakaryocyte finding

MedGen UID:
734781
Concept ID:
C1532012
Finding
8.

Blood clot in eye

MedGen UID:
601980
Concept ID:
C0423010
Finding
9.

Focal segmental glomerulosclerosis 3

MedGen UID:
431833
Concept ID:
CN068928
Disease or Syndrome
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