Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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:
Abnormality of immune system physiology (HP:0010978)

Parent Node:
Abnormality of the small intestine (HP:0002244)

Parent Node:
Immunologic hypersensitivity (HP:0100326)

..Starting node
..Celiac disease (HP:0002608)

Term ID:

2608

Name:

Celiac disease

Synonym:

Celiac disease; Celiac sprue; Coeliac disease; Coeliac sprue

Definition:

Celiac disease (CD) is an autoimmune condition affecting the small intestine, triggered by the ingestion of gluten, the protein fraction of wheat, barley, and rye. Clinical manifestations of CD are highly variable and include both gastrointestinal and non-gastrointestinal features. The hallmark of CD is an immune-mediated enteropathy. This term is included because the occurence of CD is seen as a feature of a number of other diseases.

Comments:

Reference:

HP:0002608

Genes and Diseases:

Child Nodes:

Sister Nodes:

Allergy (HP:0012393)

Anaphylactic shock (HP:0100845)

Asthma (HP:0002099)

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:0002608	HP:0002608	Celiac disease	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0002608	HP:0002608	Celiac disease	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0002608	HP:0002608	Celiac disease	0	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional	2
HP:0002608	HP:0002608	Celiac disease	0	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0002608	HP:0002608	Celiac disease	0	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0002608	HP:0002608	Celiac disease	0	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		1
HP:0002608	HP:0002608	Celiac disease	0	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		5
HP:0002608	HP:0002608	Celiac disease	0	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional
HP:0002608	HP:0002608	Celiac disease	0	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional	46
HP:0002608	HP:0002608	Celiac disease	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0002608	HP:0002608	Celiac disease	0	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional	4
HP:0002608	HP:0002608	Celiac disease	0	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0002608	HP:0002608	Celiac disease	0	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0002608	HP:0002608	Celiac disease	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0002608	HP:0002608	Celiac disease	0	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional
HP:0002608	HP:0002608	Celiac disease	0	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional	1
HP:0002608	HP:0002608	Celiac disease	0	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome	HP:0040283 - Occasional	1
HP:0002608	HP:0002608	Celiac disease	0	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional
HP:0002608	HP:0002608	Celiac disease	0	SATB2 CL E G H	23314	21637	ORPHA:576283	SATB2-associated syndrome due to a pathogenic variant	HP:0040283 - Occasional	34
HP:0002608	HP:0002608	Celiac disease	0	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional
HP:0002608	HP:0002608	Celiac disease	0	SOCS1 CL E G H	8651	19383	OMIM:619375	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD		6
HP:0002608	HP:0002608	Celiac disease	0	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional
HP:0002608	HP:0002608	Celiac disease	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome	.	138
HP:0002608	HP:0002608	Celiac disease	0	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040284 - Very rare	138
HP:0002608	HP:0002608	Celiac disease	0	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1		110
HP:0002608	HP:0002608	Celiac disease	0	STAT5B CL E G H	6777	11367	OMIM:618985	GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 2, AUTOSOMAL DOMINANT; GHISID2		12
HP:0002608	HP:0002608	Celiac disease	0	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional	241
HP:0002608	HP:0002608	Celiac disease	0	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional
HP:0002608	HP:0002608	Celiac disease	0	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional	71
HP:0002608	HP:0002608	Celiac disease	0	WAC CL E G H	51322	17327	ORPHA:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion	HP:0040283 - Occasional	20

Genes (29) :BICRA ELN GPR35 HLA-DQA1 HLA-DQB1 IGHG2 IGKC IL12A IL12RB1 IPO8 IRF5 IVNS1ABP MED12 MLXIPL MMEL1 MST1 ODC1 POU2AF1 SATB2 SEMA4D SOCS1 SPIB SRCAP STAT3 STAT5B TCF4 TNFSF15 TNPO3 WAC

Diseases (17) :OMIM:619325 OMIM:194050 ORPHA:171 OMIM:212750 ORPHA:183675 ORPHA:186 OMIM:619472 OMIM:618969 OMIM:301068 ORPHA:544488 ORPHA:576283 OMIM:619375 OMIM:136140 ORPHA:2044 OMIM:615952 OMIM:618985 ORPHA:284169

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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