MYH9-related thrombocytopenia

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 17
OrphanetNr: 182050
OMIM Id: 600208
ICD-10: D69.4
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
Childhood
Adolescent
Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Inherited giant platelet disorder
 -Rare genetic disease
 -Rare hematologic disease
Primary glomerular disease
 -Rare genetic disease
 -Rare renal disease

Symptom Information: Sort by abundance 

1
 (HPO:0000079) Abnormality of the urinary system 88 / 7739
2
 (HPO:0000478) Abnormality of the eye 126 / 7739
3
 (HPO:0000518) Cataract 454 / 7739
4
 (HPO:0000408) Progressive sensorineural hearing impairment 28 / 7739
5
 (HPO:0000978) Bruising susceptibility 123 / 7739
6
 (HPO:0003010) Prolonged bleeding time 88 / 7739
7
 (HPO:0001873) Thrombocytopenia 224 / 7739
8
 (HPO:0001892) Abnormal bleeding 85 / 7739
9
 (HPO:0001902) Giant platelets 11 / 7739
10
 (OMIM) No leukocyte inclusions on Giemsa staining 1 / 7739
11
 (OMIM) No kidney disease 3 / 7739
12
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
13
 (OMIM) Variable bleeding episodes 2 / 7739
14
 (OMIM) Asymptomatic (easy bruisability, postoperative hemorrhage) 2 / 7739
15
 (OMIM) Normal to prolonged bleeding time 2 / 7739
16
 (OMIM) MYH9-positive inclusions on immunohistochemical staining 2 / 7739
17
 (OMIM) Thrombocytopenia (33-120 x 10(9)/L) 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Brodie et al. (1992) reported a kindred with hereditary macrothrombocytopenia and progressive sensorineural hearing loss. None of the family members had any evidence of renal dysfunction. The disorder was inherited by and through females in 4 generations. Hearing ...
Molecular genetics OMIM In affected members of the family reported by Brodie et al. (1992), Mhatre et al. (2003) identified a missense mutation in the MYH9 gene (160775.0010). They noted that the same mutation has been found in May-Hegglin anomaly (155100), ...