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 intestine morphology (HP:0002242)

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

..Starting node
..Protein-losing enteropathy (HP:0002243)

Term ID:

2243

Name:

Protein-losing enteropathy

Synonym:

Definition:

Abnormal loss of protein from the digestive tract related to excessive leakage of plasma proteins into the lumen of the gastrointestinal tract.

Comments:

Reference:

HP:0002243

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal duodenum morphology (HP:0002246)

Abnormal ileum morphology (HP:0001549)

Abnormal jejunum morphology (HP:0005265)

Abnormal small intestinal mucosa morphology (HP:0025129)

Abnormality of small intestinal villus morphology (HP:0011472)

Agenesis of the small intestine (HP:0012739)

Celiac disease (HP:0002608)

Congenital shortened small intestine (HP:0030889)

Fat malabsorption (HP:0002630)

Hypoplasia of the small intestine (HP:0004790)

Malrotation of small bowel (HP:0004794)

Small bowel diverticula (HP:0002256)

Small intestinal bleeding (HP:0012849)

Small intestinal dysmotility (HP:0012850)

Small intestinal stenosis (HP:0012848)

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:0002243	HP:0002243	Protein-losing enteropathy	0	ADAMTS3 CL E G H	9508	219	OMIM:618154	Hennekam lymphangiectasia-lymphedema syndrome 3	.	1
HP:0002243	HP:0002243	Protein-losing enteropathy	0	ALG1 CL E G H	56052	18294	ORPHA:79327	ALG1-CDG	HP:0040283 - Occasional	58
HP:0002243	HP:0002243	Protein-losing enteropathy	0	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG	HP:0040283 - Occasional	66
HP:0002243	HP:0002243	Protein-losing enteropathy	0	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih	.	46
HP:0002243	HP:0002243	Protein-losing enteropathy	0	BLNK CL E G H	29760	14211	OMIM:613502	Agammaglobulinemia 4, autosomal recessive		4
HP:0002243	HP:0002243	Protein-losing enteropathy	0	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy	HP:0040282 - Frequent	385
HP:0002243	HP:0002243	Protein-losing enteropathy	0	CARD8 CL E G H	22900	17057	OMIM:619079	INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 30; IBD30		1
HP:0002243	HP:0002243	Protein-losing enteropathy	0	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome	.	147
HP:0002243	HP:0002243	Protein-losing enteropathy	0	COG8 CL E G H	84342	18623	ORPHA:95428	COG8-CDG	HP:0040282 - Frequent	39
HP:0002243	HP:0002243	Protein-losing enteropathy	0	DGAT1 CL E G H	8694	2843	OMIM:615863	Diarrhea 7, protein-losing Enteropathy type	.	9
HP:0002243	HP:0002243	Protein-losing enteropathy	0	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040283 - Occasional	4
HP:0002243	HP:0002243	Protein-losing enteropathy	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0002243	HP:0002243	Protein-losing enteropathy	0	MPI CL E G H	4351	7216	OMIM:602579	Congenital disorder of glycosylation, type Ib	.	51
HP:0002243	HP:0002243	Protein-losing enteropathy	0	MPI CL E G H	4351	7216	ORPHA:79319	MPI-CDG	HP:0040282 - Frequent	51
HP:0002243	HP:0002243	Protein-losing enteropathy	0	PET117 CL E G H	100303755	40045	OMIM:619063	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19
HP:0002243	HP:0002243	Protein-losing enteropathy	0	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome	.
HP:0002243	HP:0002243	Protein-losing enteropathy	0	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040283 - Occasional	563
HP:0002243	HP:0002243	Protein-losing enteropathy	0	PLVAP CL E G H	83483	13635	OMIM:618183	Diarrhea 10, protein-losing Enteropathy type	.
HP:0002243	HP:0002243	Protein-losing enteropathy	0	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy	HP:0040282 - Frequent	948
HP:0002243	HP:0002243	Protein-losing enteropathy	0	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C		89

Genes (19) :ADAMTS3 ALG1 ALG6 ALG8 BLNK BMPR1A CARD8 CCBE1 COG8 DGAT1 DZIP1L FOCAD MPI PET117 PIK3C2A PKHD1 PLVAP PTEN STAT1

Diseases (18) :OMIM:618154 ORPHA:79327 ORPHA:79320 OMIM:608104 OMIM:613502 ORPHA:79076 OMIM:619079 OMIM:235510 ORPHA:95428 OMIM:615863 ORPHA:731 OMIM:619991 OMIM:602579 ORPHA:79319 OMIM:619063 OMIM:618440 OMIM:618183 OMIM:614162

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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