Inherited thrombocytopenia

rare

An instance of thrombocytopenia that is inherited.

Identifiers: MONDO:0100241
Part of: Hereditary disease Thrombocytopenia
Also known as: hereditary thrombocytopenia

Subtypes

Disease	ID	Subtypes	Genes
Syndromic constitutional thrombocytopenia	MONDO:0018795	14
Alpha granule disease	MONDO:0020117	5
GATA1-related cytopenia	MONDO:0100089	4	GATA1
Autosomal dominant macrothrombocytopenia	MONDO:0015372	3
Congenital amegakaryocytic thrombocytopenia	MONDO:0800451	2
Macrothrombocytopenia, isolated	MONDO:0031447	2
MECOM-associated syndrome	MONDO:0100458	1	MECOM
Thrombocytopenia 12 with or without myopathy	MONDO:0958325	1	GNE
TPM4-related platelet disorder	MONDO:0100487		TPM4
Bleeding disorder, platelet-type, 21	MONDO:0054577		FLI1
Congenital autosomal recessive small-platelet thrombocytopenia	MONDO:0035441
Congenital thrombotic thrombocytopenic purpura	MONDO:0010122		ADAMTS13
Erythrokeratodermia variabilis et progressiva 4	MONDO:0033014		KDSR
Isolated delta-storage pool disease	MONDO:0016630
Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease	MONDO:0060583		ARPC1B
Platelet-type bleeding disorder 17	MONDO:0008553		GFI1B
Platelet-type bleeding disorder 20	MONDO:0014830		SLFN14
Thrombocytopenia 1	MONDO:0010743		WAS
Thrombocytopenia 10	MONDO:0957578		PTPRJ
Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies	MONDO:0958000		RAP1B
Thrombocytopenia 13, syndromic	MONDO:0958333		GALE
Thrombocytopenia 2	MONDO:0008555		ANKRD26
Thrombocytopenia 3	MONDO:0010120		FYB1
Thrombocytopenia 4	MONDO:0012775		CYCS
Thrombocytopenia 5	MONDO:0014536		ETV6
Thrombocytopenia 7	MONDO:0030867		IKZF5
Thrombocytopenia 9	MONDO:0957572		THPO
Thrombocytopenia, anemia, and myelofibrosis	MONDO:0044316		MPIG6B
Thrombocytopenia, cyclic	MONDO:0008556

Rare disease

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