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:
Impairment of activities of daily living (HP:0031058)

Parent Node:
Abnormal large intestine physiology (HP:0012700)

Parent Node:
Impaired continence (HP:0031064)

..Starting node
..Bowel incontinence (HP:0002607)

Term ID:

2607

Name:

Bowel incontinence

Synonym:

Anal incontinence; Faecal incontinence; Fecal incontinence; Loss of bowel control

Definition:

Involuntary fecal soiling in adults and children who have usually already been toilet trained.

Comments:

Reference:

HP:0002607

Genes and Diseases:

Child Nodes:

........

Encopresis (HP:0040183)

Sister Nodes:

Urinary incontinence (HP:0000020)

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:0002607	HP:0002607	Bowel incontinence	0	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy	.	135
HP:0002607	HP:0002607	Bowel incontinence	0	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy	HP:0040282 - Frequent	135
HP:0002607	HP:0002607	Bowel incontinence	0	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040283 - Occasional	253
HP:0002607	HP:0002607	Bowel incontinence	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	1
HP:0002607	HP:0002607	Bowel incontinence	0	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome	HP:0040283 - Occasional	100
HP:0002607	HP:0002607	Bowel incontinence	0	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional	5
HP:0002607	HP:0002607	Bowel incontinence	0	C19ORF12 CL E G H	83636	25443	ORPHA:289560	Mitochondrial membrane protein-associated neurodegeneration	HP:0040282 - Frequent	114
HP:0002607	HP:0002607	Bowel incontinence	0	CFAP43 CL E G H	80217	26684	OMIM:236690	Hydrocephalus, normal pressure, 1	.	6
HP:0002607	HP:0002607	Bowel incontinence	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	6
HP:0002607	HP:0002607	Bowel incontinence	0	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0002607	HP:0002607	Bowel incontinence	0	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional	2
HP:0002607	HP:0002607	Bowel incontinence	0	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive	HP:0040283 - Occasional	29
HP:0002607	HP:0002607	Bowel incontinence	0	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy		152
HP:0002607	HP:0002607	Bowel incontinence	0	DSTYK CL E G H	25778	29043	ORPHA:101003	Autosomal recessive spastic paraplegia type 23	HP:0040282 - Frequent	13
HP:0002607	HP:0002607	Bowel incontinence	0	EIF2AK2 CL E G H	5610	9437	OMIM:618877	LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0002607	HP:0002607	Bowel incontinence	0	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35	HP:0040283 - Occasional	76
HP:0002607	HP:0002607	Bowel incontinence	0	FLVCR1 CL E G H	28982	24682	ORPHA:88628	Posterior column ataxia-retinitis pigmentosa syndrome	HP:0040284 - Very rare	111
HP:0002607	HP:0002607	Bowel incontinence	0	FMR1 CL E G H	2332	3775	OMIM:300623	Fragile X tremor/ataxia syndrome		30
HP:0002607	HP:0002607	Bowel incontinence	0	FMR1 CL E G H	2332	3775	ORPHA:93256	Fragile X-associated tremor/ataxia syndrome	HP:0040283 - Occasional	30
HP:0002607	HP:0002607	Bowel incontinence	0	FUZ CL E G H	80199	26219	ORPHA:3027	Caudal regression sequence	HP:0040281 - Very frequent	3
HP:0002607	HP:0002607	Bowel incontinence	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	8
HP:0002607	HP:0002607	Bowel incontinence	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	3
HP:0002607	HP:0002607	Bowel incontinence	0	HPSE2 CL E G H	60495	18374	ORPHA:2704	Ochoa syndrome	HP:0040283 - Occasional	9
HP:0002607	HP:0002607	Bowel incontinence	0	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)		34
HP:0002607	HP:0002607	Bowel incontinence	0	ISL1 CL E G H	3670	6132	ORPHA:93930	Bladder exstrophy	HP:0040283 - Occasional	2
HP:0002607	HP:0002607	Bowel incontinence	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	2
HP:0002607	HP:0002607	Bowel incontinence	0	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7		3
HP:0002607	HP:0002607	Bowel incontinence	0	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant		44
HP:0002607	HP:0002607	Bowel incontinence	0	LRIG2 CL E G H	9860	20889	ORPHA:2704	Ochoa syndrome	HP:0040283 - Occasional	5
HP:0002607	HP:0002607	Bowel incontinence	0	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional	2
HP:0002607	HP:0002607	Bowel incontinence	0	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0002607	HP:0002607	Bowel incontinence	0	NOP56 CL E G H	10528	15911	ORPHA:276198	Spinocerebellar ataxia type 36	HP:0040284 - Very rare	9
HP:0002607	HP:0002607	Bowel incontinence	0	PLP1 CL E G H	5354	9086	ORPHA:99015	Spastic paraplegia type 2	HP:0040282 - Frequent	60
HP:0002607	HP:0002607	Bowel incontinence	0	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040283 - Occasional	81
HP:0002607	HP:0002607	Bowel incontinence	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0002607	HP:0002607	Bowel incontinence	0	RTN2 CL E G H	6253	10468	ORPHA:100993	Autosomal dominant spastic paraplegia type 12	HP:0040283 - Occasional	25
HP:0002607	HP:0002607	Bowel incontinence	0	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional	124
HP:0002607	HP:0002607	Bowel incontinence	0	SCN4A CL E G H	6329	10591	ORPHA:682	Hyperkalemic periodic paralysis	HP:0040283 - Occasional	263
HP:0002607	HP:0002607	Bowel incontinence	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0002607	HP:0002607	Bowel incontinence	0	SLC44A1 CL E G H	23446	18798	OMIM:618868	NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC		1
HP:0002607	HP:0002607	Bowel incontinence	0	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type	.	93
HP:0002607	HP:0002607	Bowel incontinence	0	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	HP:0040284 - Very rare	16
HP:0002607	HP:0002607	Bowel incontinence	0	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT		16
HP:0002607	HP:0002607	Bowel incontinence	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	32
HP:0002607	HP:0002607	Bowel incontinence	0	TP63 CL E G H	8626	15979	ORPHA:93930	Bladder exstrophy	HP:0040283 - Occasional	140
HP:0002607	HP:0002607	Bowel incontinence	0	UBAP1 CL E G H	51271	12461	ORPHA:100993	Autosomal dominant spastic paraplegia type 12	HP:0040283 - Occasional
HP:0002607	HP:0002607	Bowel incontinence	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0002607	HP:0002607	Bowel incontinence	0	VANGL1 CL E G H	81839	15512	ORPHA:3027	Caudal regression sequence	HP:0040281 - Very frequent	111
HP:0002607	HP:0002607	Bowel incontinence	0	VCP CL E G H	7415	12666	ORPHA:329478	Adult-onset distal myopathy due to VCP mutation	HP:0040283 - Occasional	63
HP:0002607	HP:0002607	Bowel incontinence	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040282 - Frequent	362
HP:0002607	HP:0002607	Bowel incontinence	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040282 - Frequent	362
HP:0002607	HP:0002607	Bowel incontinence	0	ZFYVE26 CL E G H	23503	20761	OMIM:270700	Spastic paraplegia 15, autosomal recessive	.	189
HP:0002607	HP:0040183	Encopresis	1	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy		152
HP:0002607	HP:0040183	Encopresis	1	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities

Genes (48) :ABCD1 ARSA ARVCF ATP13A2 BCR C19ORF12 CFAP43 COMT CRKL DACT1 DDHD2 DMPK DSTYK EIF2AK2 FA2H FLVCR1 FMR1 FUZ GP1BB HIRA HPSE2 HTRA1 ISL1 JMJD1C KY LMNB1 LRIG2 MAPK1 MAPK8IP3 NOP56 PLP1 PSAP RREB1 RTN2 SALL1 SCN4A SEC24C SLC44A1 SLC9A6 TBCD TBX1 TP63 UBAP1 UFD1 VANGL1 VCP ZEB2 ZFYVE26

Diseases (36) :OMIM:300100 ORPHA:139399 ORPHA:309271 ORPHA:567 ORPHA:306674 ORPHA:261330 ORPHA:289560 OMIM:236690 ORPHA:857 OMIM:615033 ORPHA:589821 ORPHA:101003 OMIM:618877 ORPHA:171629 ORPHA:88628 OMIM:300623 ORPHA:93256 ORPHA:3027 ORPHA:2704 OMIM:600142 ORPHA:93930 OMIM:617114 OMIM:169500 OMIM:618443 ORPHA:276198 ORPHA:99015 ORPHA:100993 ORPHA:682 OMIM:618868 OMIM:300243 ORPHA:496641 OMIM:617193 ORPHA:329478 ORPHA:261552 ORPHA:261537 OMIM:270700

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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