MYH9-related syndromic thrombocytopenia
Synonyms: MYH9-RD · MYH9-related disorder · MYH9-related syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood, Infancy, Neonatal
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | MYH9-related syndromic thrombocytopenia | MYH9-RD · MYH9-related disorder · MYH9-related syndrome |
| fr | Thrombocytopénie syndromique liée à MYH9 | Syndrome MYH9 · MYH9-RD · Maladie liée à MYH9 |
| de | MYH9-assoziierte syndromale Thrombozytopenie | MYH9-assoziierte Störung · Thrombozytopenie durch MYH9-Genmutation |
| es | Trombocitopenia sindrómica asociada a MYH9 | Síndrome asociado a MYH9 · Trastorno asociado a MYH9 |
| it | Trombocitopenia MYH9-correlata sindromica | Disturbo MYH9-correlato · MYH9-RD · Sindrome MYH9-correlata |
| nl | MYH9-gerelateerde syndromale trombocytopenie | MYH9-RD · MYH9-gerelateerd syndroom · MYH9-gerelateerde stoornis |
| pt | Trombocitopenia sindrómica MYH9-relacionada | Doença MYH9-relacionada · MYH9-RD · Síndrome MYH9-relacionada |
| pl | Choroba związana z MYH9 | MYH9-RD · Syndromiczna trombocytopenia związana z MYH9 · Zaburzenie związane z MYH9 · Zespół związany z MYH9 |
| cs | MYH9-vázaná trombocytopenie | MYH9-RD · MYH9-vázaná porucha · MYH9-vázaný syndrom · MYH9-vázaná syndromová trombocytopenie |
| uk | Захворювання, повязане з MYH9 | MYH9-RD · Захворювання, повязані з MYH9 · Синдром, повязаний з MYH9 · Синдромна тромбоцитопенія, повязана з MYH9 |
| zh | MYH9基因相关性疾病 | MYH9相关性综合征性血小板减少症 |
| tr | MYH9 -ilişkili hastalık | MYH9-RD · MYH9-ilişkili bozukluk · MYH9-ilişkili sendrom · MYH9-ilişkili sendromik trombositopeni |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 155100 | E | validated | |
| ICD-10 | D69.4 | NTBT | attributed | validated |
| ICD-11 | 3B64.01 | NTBT | index | validated |
| MONDO | 0015912 | E | validated | |
| MeSH | C535507 | E | validated | |
| UMLS | C5200934 | E | validated | |
| GARD | 180 | E | validated | |
| MedDRA | 10079437 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:567562Disorder with multisystemic involvement and glomerulopathy
rare genetic diseases; rare renal diseases; rare transplant-related disorders - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:477794Syndromic constitutional thrombocytopenia
rare genetic diseases; rare hematological diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:807Sebastian syndrome moved to · inactive
- ORPHA:850May-Hegglin thrombocytopenia moved to · inactive
- ORPHA:1019Epstein syndrome moved to · inactive
- ORPHA:1984Fechtner syndrome moved to · inactive
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MYH9 | Disease-causing germline mutation(s) in | Assessed | HGNC:7579 | ENSG00000100345 | 160775 | 22q12.3 | myosin heavy chain 9 |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.29 / 100 000 | Italy | Value and class | Validated | 20301740[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.3 / 100 000 | Europe | Value and class | Validated | 20301740[PMID]_[EXPERT] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
16 annotations · validated 2019-04-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001905 | Congenital thrombocytopenia | |
| Frequent (79-30%) | ||
| HP:0000978 | Bruising susceptibility | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0001902 | Giant platelets | |
| HP:0011877 | Increased mean platelet volume | |
| HP:0000132 | Menorrhagia | |
| HP:0000123 | Nephritis | |
| HP:0000112 | Nephropathy | |
| HP:0008264 | Neutrophil inclusion bodies | |
| HP:0007819 | Presenile cataracts | |
| HP:0003010 | Prolonged bleeding time | |
| HP:0000093 | Proteinuria | |
| HP:0000083 | Renal insufficiency | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0004406 | Spontaneous, recurrent epistaxis | |
| Very rare (<4-1%) | ||
| HP:0001658 | Myocardial infarction | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 20174760[PMID]_19408192[PMID]_10973259[PMID]_10973260[PMID]_21009925[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/182050
- This record as JSON: /data/d/182050.json