DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome
Synonyms: DIAPH1-related sensorineural deafness-thrombocytopenia syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
A rare genetic disease characterized by progressive and severe sensorineural hearing loss with onset in the first decade of life, associated with mild thrombocytopenia, often with enlarged platelets. Most patients do not show significant bleeding tendency.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome | DIAPH1-related sensorineural deafness-thrombocytopenia syndrome |
| fr | Syndrome de surdité neurosensorielle-thrombocytopénie associé à DIAPH1 | |
| de | Sensorineuraler Hörverlust-Thrombozytopenie-Syndrom, DIAPH1-assoziiertes | Sensorineurale Schwerhörigkeit-Thrombozytopenie-Syndrom, DIAPH1-assoziiertes |
| es | Síndrome de hipoacusia neurosensorial-trombocitopenia asociado al gen DIAPH1 | Síndrome de sordera neurosensorial-trombocitopenia asociado al gen DIAPH1 |
| it | Sordità neurosensoriale e trombocitopenia correlata a DIAPH1 | |
| nl | DIAPH1-gerelateerd sensorineuraal gehoorverlies - trombocytopenie-syndroom | DIAPH1-gerelateerde sensorineurale doofheid - trombocytopenie-syndroom |
| pt | Síndrome de perda auditiva neurossensorial-trombocitopenia DIAPH1-relacionada | |
| pl | Zespół niedosłuchu czuciowo-nerwowego i małopłytkowości związany z DIAPH1 | = en |
| cs | Syndrom zahrnující DIAPH1-vázanou senzorineurální ztrátu sluchu a trombocytopenii | Syndrom zahrnující DIAPH1-vázanou senzorineurální hluchotu a trombocytopenii |
| uk | Повязаний з DIAPH1 синдром сенсоневральної втрати слуху - тромбоцитопенії | Синдром сенсоневральної глухоти і тромбоцитопенії, повязаний з DIAPH1 |
| zh | DIAPH1相关的感觉神经性听力减退-血小板减少综合征 | DIAPH1相关的感觉神经性耳聋-血小板减少综合征 |
| tr | DIAPH1-ilişkili sensörinöral işitme kaybı-trombositopeni sendromu | DIAPH1-ilişkili sensörinöral sağırlık-trombositopeni sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 124900 | E | validated | |
| ICD-10 | H90.3 | NTBT | attributed | validated |
| ICD-11 | LD2H.Y | NTBT | attributed | validated |
| MONDO | 0044635 | E | validated | |
| MeSH | C565121 | E | validated | |
| UMLS | C1852282 | 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 (2):
- 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.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DIAPH1 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:2876 | ENSG00000131504 | 602121 | 5q31.3 | diaphanous related formin 1 | 26912466[PMID]_27808407[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 8 cases | Worldwide | Case(s) | Validated | 27808407[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27808407[PMID] |
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
6 annotations · validated 2022-12-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011877 | Increased mean platelet volume | |
| HP:0000408 | Progressive sensorineural hearing impairment | |
| HP:0001873 | Thrombocytopenia | |
| Frequent (79-30%) | ||
| HP:0001875 | Decreased total neutrophil count | |
| HP:0001891 | Iron deficiency anemia | |
| Occasional (29-5%) | ||
| HP:0006285 | Enamel hypomineralization | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 28815995[PMID]_27808407[PMID]_26912466[PMID]_34223798[PMID]_32594080[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/494444
- This record as JSON: /data/d/494444.json