Details of Disease | DrugMAP

General Information of Disease (ID: DISA8WAP)

Disease Name	Congenital amegakaryocytic thrombocytopenia
Synonyms	congenital amegakaryocytic thrombocytopenia
Disease Hierarchy	DISANU9Q: Inherited thrombocytopenia DISA8WAP: Congenital amegakaryocytic thrombocytopenia
Disease Identifiers	MONDO ID MONDO_0800451 MESH ID C535982 UMLS CUI C1327915 OMIM ID 604498 MedGen ID 272171 Orphanet ID 3319 SNOMED CT ID 716336002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
THPO	TTCG5PE	Moderate	Autosomal recessive	[1]
MPL	TTIHYA4	Strong	CausalMutation	[2]
THPO	TTCG5PE	Strong	Genetic Variation	[3]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
THPO	OTO73DZ2	Moderate	Autosomal recessive	[1]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
2	Case Report: Clinical Variation in Children With Thrombopoietin Receptor (C-MPL) Mutations: Report of 2 Cases.J Pediatr Hematol Oncol. 2018 Jan;40(1):67-70. doi: 10.1097/MPH.0000000000000944.
3	Thrombopoietin mutation in congenital amegakaryocytic thrombocytopenia treatable with?romiplostim. EMBO Mol Med. 2018 Jan;10(1):63-75. doi: 10.15252/emmm.201708168.