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DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome

MedGen UID:
1798888
•Concept ID:
C5567465
•
Disease or Syndrome
Synonyms: DIAPH1-related sensorineural deafness, thrombocytopenia syndrome; DIAPH1-related sensorineural deafness-thrombocytopenia syndrome; Diaphanous related formin 1 related sensorineural hearing loss, thrombocytopenia syndrome
SNOMED CT: DIAPH1-related sensorineural deafness, thrombocytopenia syndrome (1172604004); DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome (1172604004); Diaphanous related formin 1 related sensorineural hearing loss, thrombocytopenia syndrome (1172604004)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0044635
Orphanet: ORPHA494444

Definition

A rare genetic disease with characteristics of 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. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome

Recent clinical studies

Etiology

DIAPH1 Mutation as a Novel Cause of Autosomal Dominant Macrothrombocytopenia and Hearing Loss.
Karki NR, Ajebo G, Savage N, Kutlar A
Acta Haematol 2021;144(1):91-94. Epub 2020 Jun 26 doi: 10.1159/000506727. PMID: 32594080
A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.
Stritt S, Nurden P, Turro E, Greene D, Jansen SB, Westbury SK, Petersen R, Astle WJ, Marlin S, Bariana TK, Kostadima M, Lentaigne C, Maiwald S, Papadia S, Kelly AM, Stephens JC, Penkett CJ, Ashford S, Tuna S, Austin S, Bakchoul T, Collins P, Favier R, Lambert MP, Mathias M, Millar CM, Mapeta R, Perry DJ, Schulman S, Simeoni I, Thys C; BRIDGE-BPD Consortium, Gomez K, Erber WN, Stirrups K, Rendon A, Bradley JR, van Geet C, Raymond FL, Laffan MA, Nurden AT, Nieswandt B, Richardson S, Freson K, Ouwehand WH, Mumford AD
Blood 2016 Jun 9;127(23):2903-14. Epub 2016 Feb 24 doi: 10.1182/blood-2015-10-675629. PMID: 26912466

Diagnosis

DIAPH1 Mutation as a Novel Cause of Autosomal Dominant Macrothrombocytopenia and Hearing Loss.
Karki NR, Ajebo G, Savage N, Kutlar A
Acta Haematol 2021;144(1):91-94. Epub 2020 Jun 26 doi: 10.1159/000506727. PMID: 32594080
A novel variant in diaphanous homolog 1 (DIAPH1) as the cause of auditory neuropathy in a Chinese family.
Wu K, Wang H, Guan J, Lan L, Zhao C, Zhang M, Wang D, Wang Q
Int J Pediatr Otorhinolaryngol 2020 Jun;133:109947. Epub 2020 Feb 13 doi: 10.1016/j.ijporl.2020.109947. PMID: 32087478

Prognosis

A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.
Stritt S, Nurden P, Turro E, Greene D, Jansen SB, Westbury SK, Petersen R, Astle WJ, Marlin S, Bariana TK, Kostadima M, Lentaigne C, Maiwald S, Papadia S, Kelly AM, Stephens JC, Penkett CJ, Ashford S, Tuna S, Austin S, Bakchoul T, Collins P, Favier R, Lambert MP, Mathias M, Millar CM, Mapeta R, Perry DJ, Schulman S, Simeoni I, Thys C; BRIDGE-BPD Consortium, Gomez K, Erber WN, Stirrups K, Rendon A, Bradley JR, van Geet C, Raymond FL, Laffan MA, Nurden AT, Nieswandt B, Richardson S, Freson K, Ouwehand WH, Mumford AD
Blood 2016 Jun 9;127(23):2903-14. Epub 2016 Feb 24 doi: 10.1182/blood-2015-10-675629. PMID: 26912466

Clinical prediction guides

DIAPH1 Mutation as a Novel Cause of Autosomal Dominant Macrothrombocytopenia and Hearing Loss.
Karki NR, Ajebo G, Savage N, Kutlar A
Acta Haematol 2021;144(1):91-94. Epub 2020 Jun 26 doi: 10.1159/000506727. PMID: 32594080
A novel variant in diaphanous homolog 1 (DIAPH1) as the cause of auditory neuropathy in a Chinese family.
Wu K, Wang H, Guan J, Lan L, Zhao C, Zhang M, Wang D, Wang Q
Int J Pediatr Otorhinolaryngol 2020 Jun;133:109947. Epub 2020 Feb 13 doi: 10.1016/j.ijporl.2020.109947. PMID: 32087478
A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.
Stritt S, Nurden P, Turro E, Greene D, Jansen SB, Westbury SK, Petersen R, Astle WJ, Marlin S, Bariana TK, Kostadima M, Lentaigne C, Maiwald S, Papadia S, Kelly AM, Stephens JC, Penkett CJ, Ashford S, Tuna S, Austin S, Bakchoul T, Collins P, Favier R, Lambert MP, Mathias M, Millar CM, Mapeta R, Perry DJ, Schulman S, Simeoni I, Thys C; BRIDGE-BPD Consortium, Gomez K, Erber WN, Stirrups K, Rendon A, Bradley JR, van Geet C, Raymond FL, Laffan MA, Nurden AT, Nieswandt B, Richardson S, Freson K, Ouwehand WH, Mumford AD
Blood 2016 Jun 9;127(23):2903-14. Epub 2016 Feb 24 doi: 10.1182/blood-2015-10-675629. PMID: 26912466

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