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:
Abnormality of pancreas physiology (HP:0012091)

Parent Node:
Abnormality of exocrine pancreas physiology (HP:0012092)

..Starting node
..Exocrine pancreatic insufficiency (HP:0001738)

Term ID:

1738

Name:

Exocrine pancreatic insufficiency

Synonym:

Inability to properly digest food due to lack of pancreatic digestive enzymes; Pancreatic insufficiency

Definition:

Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes.

Comments:

Reference:

HP:0001738

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	ABCC8 CL E G H	6833	59	ORPHA:552	MODY	HP:0040284 - Very rare	245
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	APPL1 CL E G H	26060	24035	ORPHA:552	MODY	HP:0040284 - Very rare	2
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	ARX CL E G H	170302	18060	ORPHA:452	X-linked lissencephaly with abnormal genitalia	HP:0040283 - Occasional	166
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47		5
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	BLK CL E G H	640	1057	ORPHA:552	MODY	HP:0040284 - Very rare	75
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	BRCA1 CL E G H	672	1100	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent	5769
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	BRCA2 CL E G H	675	1101	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent	7642
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	CDKN2A CL E G H	1029	1787	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent	289
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	CEACAM3 CL E G H	1084	1815	ORPHA:586	Cystic fibrosis	HP:0040281 - Very frequent
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	CEACAM6 CL E G H	4680	1818	ORPHA:586	Cystic fibrosis	HP:0040281 - Very frequent	1
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	CEL CL E G H	1056	1848	ORPHA:552	MODY	HP:0040284 - Very rare	25
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis		1371
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	CFTR CL E G H	1080	1884	ORPHA:586	Cystic fibrosis	HP:0040281 - Very frequent	1371
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	CFTR CL E G H	1080	1884	OMIM:167800	Pancreatitis, hereditary	.	1371
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	CLCA4 CL E G H	22802	2018	ORPHA:586	Cystic fibrosis	HP:0040281 - Very frequent
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	COX4I2 CL E G H	84701	16232	OMIM:612714	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis	.	13
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic	.	178
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	CTRC CL E G H	11330	2523	OMIM:167800	Pancreatitis, hereditary	.	39
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	DCTN4 CL E G H	51164	15518	ORPHA:586	Cystic fibrosis	HP:0040281 - Very frequent
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3	.	5
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome	HP:0040281 - Very frequent	5
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1	.	5
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	EDNRA CL E G H	1909	3179	ORPHA:586	Cystic fibrosis	HP:0040281 - Very frequent	3
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome	HP:0040281 - Very frequent	1
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2	.	1
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome	HP:0040283 - Occasional	65
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis		6
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040281 - Very frequent	37
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	GCK CL E G H	2645	4195	ORPHA:552	MODY	HP:0040284 - Very rare	237
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	GCLC CL E G H	2729	4311	ORPHA:586	Cystic fibrosis	HP:0040281 - Very frequent	2
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	GSTM3 CL E G H	2947	4635	ORPHA:586	Cystic fibrosis	HP:0040281 - Very frequent	1
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	HFE CL E G H	3077	4886	ORPHA:586	Cystic fibrosis	HP:0040281 - Very frequent	38
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	HMOX1 CL E G H	3162	5013	ORPHA:586	Cystic fibrosis	HP:0040281 - Very frequent	3
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	HNF1A CL E G H	6927	11621	ORPHA:552	MODY	HP:0040284 - Very rare	161
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	HNF1B CL E G H	6928	11630	OMIM:137920	Renal cysts and diabetes syndrome		90
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	HNF4A CL E G H	3172	5024	ORPHA:552	MODY	HP:0040284 - Very rare	138
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	INS CL E G H	3630	6081	ORPHA:552	MODY	HP:0040284 - Very rare	62
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1	.	257
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	KCNJ11 CL E G H	3767	6257	ORPHA:552	MODY	HP:0040284 - Very rare	127
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	KCNN4 CL E G H	3783	6293	ORPHA:586	Cystic fibrosis	HP:0040281 - Very frequent	3
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	KLF11 CL E G H	8462	11811	ORPHA:552	MODY	HP:0040284 - Very rare	78
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	KRAS CL E G H	3845	6407	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent	196
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH		5
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	MIF CL E G H	4282	7097	ORPHA:586	Cystic fibrosis	HP:0040281 - Very frequent	1
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	NEUROD1 CL E G H	4760	7762	ORPHA:552	MODY	HP:0040284 - Very rare	32
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST		118
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1	HP:0040283 - Occasional	201
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	PALB2 CL E G H	79728	26144	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent	1349
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	PALLD CL E G H	23022	17068	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent	192
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	PAX4 CL E G H	5078	8618	ORPHA:552	MODY	HP:0040284 - Very rare	55
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	PDX1 CL E G H	3651	6107	ORPHA:552	MODY	HP:0040284 - Very rare	30
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	PDX1 CL E G H	3651	6107	OMIM:260370	Pancreatic agenesis, congenital	.	30
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	PRSS1 CL E G H	5644	9475	OMIM:167800	Pancreatitis, hereditary	.	51
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	PRSS2 CL E G H	5645	9483	OMIM:167800	Pancreatitis, hereditary	.	1
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease	HP:0040281 - Very frequent	6
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional	19
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040283 - Occasional	19
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	RABL3 CL E G H	285282	18072	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome	HP:0040281 - Very frequent	26
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1	.	26
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	SERPINA1 CL E G H	5265	8941	ORPHA:586	Cystic fibrosis	HP:0040281 - Very frequent	131
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	SLC11A1 CL E G H	6556	10907	ORPHA:586	Cystic fibrosis	HP:0040281 - Very frequent	2
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	SLC26A9 CL E G H	115019	14469	ORPHA:586	Cystic fibrosis	HP:0040281 - Very frequent	5
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	SLC6A14 CL E G H	11254	11047	ORPHA:586	Cystic fibrosis	HP:0040281 - Very frequent
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	SLC9A3 CL E G H	6550	11073	ORPHA:586	Cystic fibrosis	HP:0040281 - Very frequent	7
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	SMAD4 CL E G H	4089	6770	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent	504
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	SPINK1 CL E G H	6690	11244	OMIM:167800	Pancreatitis, hereditary	.	34
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	SRP54 CL E G H	6729	11301	OMIM:618752	NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT; SCN8
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome	HP:0040281 - Very frequent
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1	.
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1		110
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	STX1A CL E G H	6804	11433	ORPHA:586	Cystic fibrosis	HP:0040281 - Very frequent
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	TGFB1 CL E G H	7040	11766	ORPHA:586	Cystic fibrosis	HP:0040281 - Very frequent	13
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis		13
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	TP53 CL E G H	7157	11998	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent	911
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26		4
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	UBR1 CL E G H	197131	16808	ORPHA:2315	Johanson-Blizzard syndrome	HP:0040281 - Very frequent	25
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.	25
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2

Genes (69) :ABCC8 APPL1 ARX ATP6AP1 BLK BRCA1 BRCA2 CDKN2A CEACAM3 CEACAM6 CEL CFTR CLCA4 COX4I2 CTNS CTRC DCTN4 DNAJC21 EDNRA EFL1 EIF2AK3 FCGR2A FOCAD GATA6 GCK GCLC GSTM3 HFE HMOX1 HNF1A HNF1B HNF4A INS JAG1 KCNJ11 KCNN4 KLF11 KRAS MADD MIF NEUROD1 NSD2 OFD1 PALB2 PALLD PAX4 PDX1 PRIM1 PRSS1 PRSS2 PTRH2 PUF60 RABL3 SBDS SERPINA1 SLC11A1 SLC26A9 SLC6A14 SLC9A3 SMAD4 SPINK1 SRP54 STAT3 STX1A TGFB1 TP53 TRMT5 UBR1 YARS1

Diseases (32) :ORPHA:552 ORPHA:452 OMIM:300972 ORPHA:1333 ORPHA:586 OMIM:219700 OMIM:167800 OMIM:612714 OMIM:219800 OMIM:617052 ORPHA:811 OMIM:260400 OMIM:617941 ORPHA:1667 OMIM:619991 ORPHA:2255 OMIM:137920 OMIM:118450 OMIM:619004 OMIM:619695 ORPHA:2750 OMIM:260370 OMIM:620005 ORPHA:456312 ORPHA:508488 ORPHA:508498 OMIM:618752 OMIM:615952 OMIM:616539 ORPHA:2315 OMIM:243800 OMIM:619418

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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