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:
Abnormal reflex (HP:0031826)

Parent Node:
Hyperreflexia (HP:0001347)

..Starting node
..Proximal hyperreflexia (HP:0007054)

Term ID:

7054

Name:

Proximal hyperreflexia

Synonym:

Hyperreflexia proximally

Definition:

Hyperactive stretch reflexes of muscles that move proximal joints (elbow, knee).

Comments:

Reference:

HP:0007054

Genes and Diseases:

Child Nodes:

Sister Nodes:

Brisk reflexes (HP:0001348)

Clonus (HP:0002169)

Generalized hyperreflexia (HP:0007034)

Hyperactive deep tendon reflexes (HP:0006801)

Hyperreflexia in upper limbs (HP:0007350)

Lower limb hyperreflexia (HP:0002395)

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:0007054	HP:0007054	Proximal hyperreflexia	0	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS		254
HP:0007054	HP:0007054	Proximal hyperreflexia	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A		89
HP:0007054	HP:0007054	Proximal hyperreflexia	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447757	Autosomal dominant spastic paraplegia type 9B		89
HP:0007054	HP:0007054	Proximal hyperreflexia	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B		89
HP:0007054	HP:0007054	Proximal hyperreflexia	0	ARL6IP1 CL E G H	23204	697	ORPHA:401780	Autosomal recessive spastic paraplegia type 61		1
HP:0007054	HP:0007054	Proximal hyperreflexia	0	ARL6IP1 CL E G H	23204	697	OMIM:615685	Spastic paraplegia 61, autosomal recessive		1
HP:0007054	HP:0007054	Proximal hyperreflexia	0	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome		100
HP:0007054	HP:0007054	Proximal hyperreflexia	0	C19ORF12 CL E G H	83636	25443	ORPHA:320370	Autosomal recessive spastic paraplegia type 43		114
HP:0007054	HP:0007054	Proximal hyperreflexia	0	CAPN1 CL E G H	823	1476	ORPHA:488594	Autosomal recessive spastic paraplegia type 76		4
HP:0007054	HP:0007054	Proximal hyperreflexia	0	CAPN1 CL E G H	823	1476	OMIM:616907	SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG76		4
HP:0007054	HP:0007054	Proximal hyperreflexia	0	COX4I1 CL E G H	1327	2265	OMIM:619060	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0007054	HP:0007054	Proximal hyperreflexia	0	CYP2U1 CL E G H	113612	20582	OMIM:615030	Spastic paraplegia 56, autosomal recessive		18
HP:0007054	HP:0007054	Proximal hyperreflexia	0	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18		18
HP:0007054	HP:0007054	Proximal hyperreflexia	0	ERLIN2 CL E G H	11160	1356	ORPHA:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome		18
HP:0007054	HP:0007054	Proximal hyperreflexia	0	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A		7
HP:0007054	HP:0007054	Proximal hyperreflexia	0	FLRT1 CL E G H	23769	3760	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome	HP:0040282 - Frequent
HP:0007054	HP:0007054	Proximal hyperreflexia	0	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy		33
HP:0007054	HP:0007054	Proximal hyperreflexia	0	HARS1 CL E G H	3035	4816	OMIM:616625	Charcot-Marie-Tooth disease, axonal, type 2W
HP:0007054	HP:0007054	Proximal hyperreflexia	0	HEXB CL E G H	3074	4879	ORPHA:309155	Sandhoff disease, infantile form		80
HP:0007054	HP:0007054	Proximal hyperreflexia	0	HSPD1 CL E G H	3329	5261	ORPHA:100994	Autosomal dominant spastic paraplegia type 13		46
HP:0007054	HP:0007054	Proximal hyperreflexia	0	IBA57 CL E G H	200205	27302	ORPHA:468661	Autosomal recessive spastic paraplegia type 74		16
HP:0007054	HP:0007054	Proximal hyperreflexia	0	KIF5A CL E G H	3798	6323	ORPHA:100991	Autosomal dominant spastic paraplegia type 10		93
HP:0007054	HP:0007054	Proximal hyperreflexia	0	KLC2 CL E G H	64837	20716	OMIM:609541	Spastic paraplegia, optic atrophy, and neuropathy	.	1
HP:0007054	HP:0007054	Proximal hyperreflexia	0	KLC2 CL E G H	64837	20716	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome	HP:0040282 - Frequent	1
HP:0007054	HP:0007054	Proximal hyperreflexia	0	KPNA3 CL E G H	3839	6396	ORPHA:171612	Autosomal dominant spastic paraplegia type 37
HP:0007054	HP:0007054	Proximal hyperreflexia	0	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome		10
HP:0007054	HP:0007054	Proximal hyperreflexia	0	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG		15
HP:0007054	HP:0007054	Proximal hyperreflexia	0	REEP1 CL E G H	65055	25786	ORPHA:101011	Autosomal dominant spastic paraplegia type 31		87
HP:0007054	HP:0007054	Proximal hyperreflexia	0	RTN2 CL E G H	6253	10468	ORPHA:100993	Autosomal dominant spastic paraplegia type 12		25
HP:0007054	HP:0007054	Proximal hyperreflexia	0	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type		309
HP:0007054	HP:0007054	Proximal hyperreflexia	0	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency		304
HP:0007054	HP:0007054	Proximal hyperreflexia	0	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency		16
HP:0007054	HP:0007054	Proximal hyperreflexia	0	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency		237
HP:0007054	HP:0007054	Proximal hyperreflexia	0	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency		129
HP:0007054	HP:0007054	Proximal hyperreflexia	0	SPAST CL E G H	6683	11233	ORPHA:100985	Autosomal dominant spastic paraplegia type 4		208
HP:0007054	HP:0007054	Proximal hyperreflexia	0	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11		287
HP:0007054	HP:0007054	Proximal hyperreflexia	0	SPTLC2 CL E G H	9517	11278	OMIM:613640	Neuropathy, hereditary sensory and autonomic, type IC		149
HP:0007054	HP:0007054	Proximal hyperreflexia	0	TNR CL E G H	7143	11953	OMIM:619653	NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO		7
HP:0007054	HP:0007054	Proximal hyperreflexia	0	UBAP1 CL E G H	51271	12461	ORPHA:100993	Autosomal dominant spastic paraplegia type 12
HP:0007054	HP:0007054	Proximal hyperreflexia	0	UBAP1 CL E G H	51271	12461	OMIM:618418	Spastic paraplegia 80, autosomal dominant
HP:0007054	HP:0007054	Proximal hyperreflexia	0	VPS37A CL E G H	137492	24928	ORPHA:319199	Autosomal recessive spastic paraplegia type 53		7
HP:0007054	HP:0007350	Hyperreflexia in upper limbs	1	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS		254
HP:0007054	HP:0007350	Hyperreflexia in upper limbs	1	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040281 - Very frequent	89
HP:0007054	HP:0007350	Hyperreflexia in upper limbs	1	ALDH18A1 CL E G H	5832	9722	ORPHA:447757	Autosomal dominant spastic paraplegia type 9B	HP:0040282 - Frequent	89
HP:0007054	HP:0007083	Hyperactive patellar reflex	1	ALDH18A1 CL E G H	5832	9722	ORPHA:447757	Autosomal dominant spastic paraplegia type 9B	HP:0040282 - Frequent	89
HP:0007054	HP:0007350	Hyperreflexia in upper limbs	1	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B	HP:0040281 - Very frequent	89
HP:0007054	HP:0007083	Hyperactive patellar reflex	1	ARL6IP1 CL E G H	23204	697	ORPHA:401780	Autosomal recessive spastic paraplegia type 61	HP:0040282 - Frequent	1
HP:0007054	HP:0007083	Hyperactive patellar reflex	1	ARL6IP1 CL E G H	23204	697	OMIM:615685	Spastic paraplegia 61, autosomal recessive	.	1
HP:0007054	HP:0007350	Hyperreflexia in upper limbs	1	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome	HP:0040281 - Very frequent	100
HP:0007054	HP:0007083	Hyperactive patellar reflex	1	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome	HP:0040283 - Occasional	100
HP:0007054	HP:0007083	Hyperactive patellar reflex	1	C19ORF12 CL E G H	83636	25443	ORPHA:320370	Autosomal recessive spastic paraplegia type 43	HP:0040282 - Frequent	114
HP:0007054	HP:0007350	Hyperreflexia in upper limbs	1	CAPN1 CL E G H	823	1476	ORPHA:488594	Autosomal recessive spastic paraplegia type 76	HP:0040282 - Frequent	4
HP:0007054	HP:0007350	Hyperreflexia in upper limbs	1	CAPN1 CL E G H	823	1476	OMIM:616907	SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG76		4
HP:0007054	HP:0007083	Hyperactive patellar reflex	1	COX4I1 CL E G H	1327	2265	OMIM:619060	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0007054	HP:0007350	Hyperreflexia in upper limbs	1	CYP2U1 CL E G H	113612	20582	OMIM:615030	Spastic paraplegia 56, autosomal recessive		18
HP:0007054	HP:0007350	Hyperreflexia in upper limbs	1	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18	HP:0040281 - Very frequent	18
HP:0007054	HP:0007350	Hyperreflexia in upper limbs	1	ERLIN2 CL E G H	11160	1356	ORPHA:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome	HP:0040283 - Occasional	18
HP:0007054	HP:0007350	Hyperreflexia in upper limbs	1	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040281 - Very frequent	7
HP:0007054	HP:0007350	Hyperreflexia in upper limbs	1	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy	HP:0040283 - Occasional	33
HP:0007054	HP:0007083	Hyperactive patellar reflex	1	HARS1 CL E G H	3035	4816	OMIM:616625	Charcot-Marie-Tooth disease, axonal, type 2W
HP:0007054	HP:0007083	Hyperactive patellar reflex	1	HEXB CL E G H	3074	4879	ORPHA:309155	Sandhoff disease, infantile form		80
HP:0007054	HP:0007350	Hyperreflexia in upper limbs	1	HSPD1 CL E G H	3329	5261	ORPHA:100994	Autosomal dominant spastic paraplegia type 13	HP:0040282 - Frequent	46
HP:0007054	HP:0007083	Hyperactive patellar reflex	1	IBA57 CL E G H	200205	27302	ORPHA:468661	Autosomal recessive spastic paraplegia type 74	HP:0040282 - Frequent	16
HP:0007054	HP:0007350	Hyperreflexia in upper limbs	1	KIF5A CL E G H	3798	6323	ORPHA:100991	Autosomal dominant spastic paraplegia type 10	HP:0040282 - Frequent	93
HP:0007054	HP:0007350	Hyperreflexia in upper limbs	1	KPNA3 CL E G H	3839	6396	ORPHA:171612	Autosomal dominant spastic paraplegia type 37	HP:0040283 - Occasional
HP:0007054	HP:0007083	Hyperactive patellar reflex	1	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040283 - Occasional	10
HP:0007054	HP:0007083	Hyperactive patellar reflex	1	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040283 - Occasional	15
HP:0007054	HP:0007350	Hyperreflexia in upper limbs	1	REEP1 CL E G H	65055	25786	ORPHA:101011	Autosomal dominant spastic paraplegia type 31	HP:0040282 - Frequent	87
HP:0007054	HP:0007350	Hyperreflexia in upper limbs	1	RTN2 CL E G H	6253	10468	ORPHA:100993	Autosomal dominant spastic paraplegia type 12	HP:0040283 - Occasional	25
HP:0007054	HP:0007083	Hyperactive patellar reflex	1	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type		309
HP:0007054	HP:0007083	Hyperactive patellar reflex	1	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent	304
HP:0007054	HP:0007350	Hyperreflexia in upper limbs	1	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent	304
HP:0007054	HP:0007083	Hyperactive patellar reflex	1	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent	16
HP:0007054	HP:0007350	Hyperreflexia in upper limbs	1	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent	16
HP:0007054	HP:0007083	Hyperactive patellar reflex	1	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent	237
HP:0007054	HP:0007350	Hyperreflexia in upper limbs	1	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent	237
HP:0007054	HP:0007083	Hyperactive patellar reflex	1	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent	129
HP:0007054	HP:0007350	Hyperreflexia in upper limbs	1	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent	129
HP:0007054	HP:0007350	Hyperreflexia in upper limbs	1	SPAST CL E G H	6683	11233	ORPHA:100985	Autosomal dominant spastic paraplegia type 4	HP:0040283 - Occasional	208
HP:0007054	HP:0007350	Hyperreflexia in upper limbs	1	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11	HP:0040282 - Frequent	287
HP:0007054	HP:0007350	Hyperreflexia in upper limbs	1	SPTLC2 CL E G H	9517	11278	OMIM:613640	Neuropathy, hereditary sensory and autonomic, type IC		149
HP:0007054	HP:0007350	Hyperreflexia in upper limbs	1	TNR CL E G H	7143	11953	OMIM:619653	NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO		7
HP:0007054	HP:0007350	Hyperreflexia in upper limbs	1	UBAP1 CL E G H	51271	12461	ORPHA:100993	Autosomal dominant spastic paraplegia type 12	HP:0040283 - Occasional
HP:0007054	HP:0007350	Hyperreflexia in upper limbs	1	UBAP1 CL E G H	51271	12461	OMIM:618418	Spastic paraplegia 80, autosomal dominant
HP:0007054	HP:0007350	Hyperreflexia in upper limbs	1	VPS37A CL E G H	137492	24928	ORPHA:319199	Autosomal recessive spastic paraplegia type 53	HP:0040281 - Very frequent	7
HP:0007054	HP:0033205	Biceps hyperreflexia	2	CL E G H
HP:0007054	HP:0033203	Brachioradialis hyperreflexia	2	CL E G H
HP:0007054	HP:0033204	Triceps hyperreflexia	2	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS		254

Genes (34) :ABCC9 ALDH18A1 ARL6IP1 ATP13A2 C19ORF12 CAPN1 COX4I1 CYP2U1 ERLIN2 FAR1 FLRT1 FTL HARS1 HEXB HSPD1 IBA57 KIF5A KLC2 KPNA3 NONO PGM3 REEP1 RTN2 SACS SDHA SDHAF1 SDHB SDHD SPAST SPG11 SPTLC2 TNR UBAP1 VPS37A

Diseases (35) :OMIM:619719 ORPHA:447753 ORPHA:447757 ORPHA:447760 ORPHA:401780 OMIM:615685 ORPHA:306674 ORPHA:320370 ORPHA:488594 OMIM:616907 OMIM:619060 OMIM:615030 ORPHA:209951 ORPHA:280384 ORPHA:320406 ORPHA:157846 OMIM:616625 ORPHA:309155 ORPHA:100994 ORPHA:468661 ORPHA:100991 OMIM:609541 ORPHA:171612 ORPHA:466791 ORPHA:443811 ORPHA:101011 ORPHA:100993 OMIM:270550 ORPHA:3208 ORPHA:100985 ORPHA:2822 OMIM:613640 OMIM:619653 OMIM:618418 ORPHA:319199

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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