Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal platelet count (HP:0011873)

Parent Node:
Autoimmunity (HP:0002960)

Parent Node:
Thrombocytopenia (HP:0001873)

..Starting node
..Autoimmune thrombocytopenia (HP:0001973)

Term ID:

1973

Name:

Autoimmune thrombocytopenia

Synonym:

Idiopathic thrombocytopenia; Idiopathic thrombocytopenic purpura; Immune thrombocytopenia

Definition:

The presence of thrombocytopenia in combination with detection of antiplatelet antibodies.

Comments:

Reference:

HP:0001973

Genes and Diseases:

Child Nodes:

Sister Nodes:

Amegakaryocytic thrombocytopenia (HP:0004859)

Congenital thrombocytopenia (HP:0001905)

Heparin-induced thrombocytopenia (HP:0011874)

Intermittent thrombocytopenia (HP:0004854)

Macrothrombocytopenia (HP:0040185)

Neonatal alloimmune thrombocytopenia (HP:0004809)

Post-transfusion thrombocytopenia (HP:0004813)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001973	HP:0001973	Autoimmune thrombocytopenia	0	ACP5 CL E G H	54	124	ORPHA:1855	Spondyloenchondrodysplasia	HP:0040283 - Occasional	16
HP:0001973	HP:0001973	Autoimmune thrombocytopenia	0	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation		16
HP:0001973	HP:0001973	Autoimmune thrombocytopenia	0	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	.	75
HP:0001973	HP:0001973	Autoimmune thrombocytopenia	0	ARHGEF1 CL E G H	9138	681	OMIM:618459	Immunodeficiency 62	.
HP:0001973	HP:0001973	Autoimmune thrombocytopenia	0	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent	87
HP:0001973	HP:0001973	Autoimmune thrombocytopenia	0	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA	.	87
HP:0001973	HP:0001973	Autoimmune thrombocytopenia	0	CD19 CL E G H	930	1633	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	38
HP:0001973	HP:0001973	Autoimmune thrombocytopenia	0	CD81 CL E G H	975	1701	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	1
HP:0001973	HP:0001973	Autoimmune thrombocytopenia	0	CD81 CL E G H	975	1701	OMIM:613496	Immunodeficiency, common variable, 6		1
HP:0001973	HP:0001973	Autoimmune thrombocytopenia	0	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	118
HP:0001973	HP:0001973	Autoimmune thrombocytopenia	0	CR2 CL E G H	1380	2336	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	10
HP:0001973	HP:0001973	Autoimmune thrombocytopenia	0	CTLA4 CL E G H	1493	2505	OMIM:616100	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5		10
HP:0001973	HP:0001973	Autoimmune thrombocytopenia	0	CTNNBL1 CL E G H	56259	15879	OMIM:619846
HP:0001973	HP:0001973	Autoimmune thrombocytopenia	0	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome	.	59
HP:0001973	HP:0001973	Autoimmune thrombocytopenia	0	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent	59
HP:0001973	HP:0001973	Autoimmune thrombocytopenia	0	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent	37
HP:0001973	HP:0001973	Autoimmune thrombocytopenia	0	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome	.	37
HP:0001973	HP:0001973	Autoimmune thrombocytopenia	0	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	HP:0040283 - Occasional	32
HP:0001973	HP:0001973	Autoimmune thrombocytopenia	0	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked		32
HP:0001973	HP:0001973	Autoimmune thrombocytopenia	0	GALC CL E G H	2581	4115	OMIM:245200	Krabbe disease	.	160
HP:0001973	HP:0001973	Autoimmune thrombocytopenia	0	ICOS CL E G H	29851	5351	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	32
HP:0001973	HP:0001973	Autoimmune thrombocytopenia	0	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency	HP:0040283 - Occasional	94
HP:0001973	HP:0001973	Autoimmune thrombocytopenia	0	IRF2BP2 CL E G H	359948	21729	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	4
HP:0001973	HP:0001973	Autoimmune thrombocytopenia	0	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1		51
HP:0001973	HP:0001973	Autoimmune thrombocytopenia	0	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1	.	53
HP:0001973	HP:0001973	Autoimmune thrombocytopenia	0	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1	.	660
HP:0001973	HP:0001973	Autoimmune thrombocytopenia	0	KRAS CL E G H	3845	6407	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic	.	196
HP:0001973	HP:0001973	Autoimmune thrombocytopenia	0	LAT CL E G H	27040	18874	OMIM:617514	Immunodeficiency 52		2
HP:0001973	HP:0001973	Autoimmune thrombocytopenia	0	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0001973	HP:0001973	Autoimmune thrombocytopenia	0	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN		17
HP:0001973	HP:0001973	Autoimmune thrombocytopenia	0	MS4A1 CL E G H	931	7315	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	1
HP:0001973	HP:0001973	Autoimmune thrombocytopenia	0	NFKB1 CL E G H	4790	7794	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	7
HP:0001973	HP:0001973	Autoimmune thrombocytopenia	0	NFKB2 CL E G H	4791	7795	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	11
HP:0001973	HP:0001973	Autoimmune thrombocytopenia	0	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome	HP:0040283 - Occasional	11
HP:0001973	HP:0001973	Autoimmune thrombocytopenia	0	NRAS CL E G H	4893	7989	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic	.	102
HP:0001973	HP:0001973	Autoimmune thrombocytopenia	0	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency	.	52
HP:0001973	HP:0001973	Autoimmune thrombocytopenia	0	PNP CL E G H	4860	7892	ORPHA:760	Purine nucleoside phosphorylase deficiency	HP:0040284 - Very rare	52
HP:0001973	HP:0001973	Autoimmune thrombocytopenia	0	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent	10
HP:0001973	HP:0001973	Autoimmune thrombocytopenia	0	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0001973	HP:0001973	Autoimmune thrombocytopenia	0	PRKCD CL E G H	5580	9399	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	10
HP:0001973	HP:0001973	Autoimmune thrombocytopenia	0	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent
HP:0001973	HP:0001973	Autoimmune thrombocytopenia	0	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0001973	HP:0001973	Autoimmune thrombocytopenia	0	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	38
HP:0001973	HP:0001973	Autoimmune thrombocytopenia	0	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	26
HP:0001973	HP:0001973	Autoimmune thrombocytopenia	0	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	34
HP:0001973	HP:0001973	Autoimmune thrombocytopenia	0	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0001973	HP:0001973	Autoimmune thrombocytopenia	0	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B	HP:0040284 - Very rare	164
HP:0001973	HP:0001973	Autoimmune thrombocytopenia	0	SOCS1 CL E G H	8651	19383	OMIM:619375	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD		6
HP:0001973	HP:0001973	Autoimmune thrombocytopenia	0	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040283 - Occasional	89
HP:0001973	HP:0001973	Autoimmune thrombocytopenia	0	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1		110
HP:0001973	HP:0001973	Autoimmune thrombocytopenia	0	TLR7 CL E G H	51284	15631	OMIM:301080
HP:0001973	HP:0001973	Autoimmune thrombocytopenia	0	TNFRSF13B CL E G H	23495	18153	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	32
HP:0001973	HP:0001973	Autoimmune thrombocytopenia	0	TNFRSF13C CL E G H	115650	17755	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	12
HP:0001973	HP:0001973	Autoimmune thrombocytopenia	0	TNFSF12 CL E G H	8742	11927	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	1
HP:0001973	HP:0001973	Autoimmune thrombocytopenia	0	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040283 - Occasional
HP:0001973	HP:0001973	Autoimmune thrombocytopenia	0	TPP2 CL E G H	7174	12016	ORPHA:444463	Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome	HP:0040280 - Obligate
HP:0001973	HP:0001973	Autoimmune thrombocytopenia	0	TPP2 CL E G H	7174	12016	OMIM:619220	IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0001973	HP:0001973	Autoimmune thrombocytopenia	0	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency	HP:0040284 - Very rare	46

Genes (46) :ACP5 ADA ARHGEF1 CASP10 CD19 CD81 CIITA CR2 CTLA4 CTNNBL1 FAS FASLG FOXP3 GALC ICOS IL7R IRF2BP2 ITK KDM6A KMT2D KRAS LAT LRBA MAGT1 MS4A1 NFKB1 NFKB2 NRAS PNP PRKCD RASGRP1 RFX5 RFXANK RFXAP SASH3 SMPD1 SOCS1 STAT1 STAT3 TLR7 TNFRSF13B TNFRSF13C TNFSF12 TOM1 TPP2 ZAP70

Diseases (36) :ORPHA:1855 OMIM:607944 OMIM:102700 OMIM:618459 ORPHA:3261 OMIM:603909 ORPHA:1572 OMIM:613496 ORPHA:572 OMIM:616100 OMIM:619846 OMIM:601859 ORPHA:37042 OMIM:304790 OMIM:245200 ORPHA:169154 OMIM:613011 OMIM:147920 OMIM:614470 OMIM:617514 OMIM:614700 OMIM:300853 ORPHA:293978 OMIM:613179 ORPHA:760 OMIM:615559 OMIM:618534 OMIM:301082 ORPHA:77293 OMIM:619375 ORPHA:391487 OMIM:615952 OMIM:301080 ORPHA:444463 OMIM:619220 ORPHA:911

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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