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:
Reduced tendon reflexes (HP:0001315)

Parent Node:
Abnormality of the lower limb (HP:0002814)

Parent Node:
Hyporeflexia (HP:0001265)

..Starting node
..Hyporeflexia of lower limbs (HP:0002600)

Term ID:

2600

Name:

Hyporeflexia of lower limbs

Synonym:

Hyporeflexia in lower limbs; Hyporeflexia of the lower limbs; Hyporeflexia, lower limbs; Hyporeflexia/areflexia in lower limbs

Definition:

Reduced intensity of muscle tendon reflexes in the lower limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping.

Comments:

Reference:

HP:0002600

Genes and Diseases:

Child Nodes:

........

Decreased Achilles reflex (HP:0009072)

........

Decreased patellar reflex (HP:0011808)

Sister Nodes:

Hyporeflexia of upper limbs (HP:0012391)

Jaw hyporeflexia (HP:0012392)

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:0002600	HP:0002600	Hyporeflexia of lower limbs	0	ADSS1 CL E G H	122622	20093	ORPHA:482601	Adenylosuccinate synthetase-like 1-related distal myopathy
HP:0002600	HP:0002600	Hyporeflexia of lower limbs	0	ADSS1 CL E G H	122622	20093	OMIM:617030	Myopathy, distal, 5	.
HP:0002600	HP:0002600	Hyporeflexia of lower limbs	0	ATL3 CL E G H	25923	24526	OMIM:615632	Neuropathy, hereditary sensory, type IF	.	5
HP:0002600	HP:0002600	Hyporeflexia of lower limbs	0	ATP6AP2 CL E G H	10159	18305	ORPHA:93952	X-linked intellectual disability, Hedera type	HP:0040282 - Frequent	36
HP:0002600	HP:0002600	Hyporeflexia of lower limbs	0	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant		46
HP:0002600	HP:0002600	Hyporeflexia of lower limbs	0	CRYAB CL E G H	1410	2389	OMIM:608810	Myopathy, myofibrillar, 2, mfm2		46
HP:0002600	HP:0002600	Hyporeflexia of lower limbs	0	DES CL E G H	1674	2770	OMIM:601419	Myopathy, myofibrillar, 1	.	263
HP:0002600	HP:0002600	Hyporeflexia of lower limbs	0	DYNC1H1 CL E G H	1778	2961	OMIM:158600	Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant		427
HP:0002600	HP:0002600	Hyporeflexia of lower limbs	0	DYSF CL E G H	8291	3097	OMIM:254130	Miyoshi muscular dystrophy 1		600
HP:0002600	HP:0002600	Hyporeflexia of lower limbs	0	FASTKD2 CL E G H	22868	29160	OMIM:618855	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44; COXPD44		122
HP:0002600	HP:0002600	Hyporeflexia of lower limbs	0	FBLN5 CL E G H	10516	3602	OMIM:608895	Macular degeneration, age-related, 3		63
HP:0002600	HP:0002600	Hyporeflexia of lower limbs	0	FBXO38 CL E G H	81545	28844	OMIM:615575	Neuronopathy, distal hereditary motor, type IID		1
HP:0002600	HP:0002600	Hyporeflexia of lower limbs	0	FLNC CL E G H	2318	3756	ORPHA:63273	Distal myopathy with posterior leg and anterior hand involvement	HP:0040281 - Very frequent	197
HP:0002600	HP:0002600	Hyporeflexia of lower limbs	0	FLRT1 CL E G H	23769	3760	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome	HP:0040282 - Frequent
HP:0002600	HP:0002600	Hyporeflexia of lower limbs	0	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive	.	121
HP:0002600	HP:0002600	Hyporeflexia of lower limbs	0	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A		108
HP:0002600	HP:0002600	Hyporeflexia of lower limbs	0	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency		99
HP:0002600	HP:0002600	Hyporeflexia of lower limbs	0	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency		60
HP:0002600	HP:0002600	Hyporeflexia of lower limbs	0	HSPB1 CL E G H	3315	5246	OMIM:608634	Neuronopathy, distal hereditary motor, type IIB	.	47
HP:0002600	HP:0002600	Hyporeflexia of lower limbs	0	HSPB8 CL E G H	26353	30171	OMIM:158590	Neuronopathy, distal hereditary motor, type IIA	.	38
HP:0002600	HP:0002600	Hyporeflexia of lower limbs	0	IBA57 CL E G H	200205	27302	ORPHA:468661	Autosomal recessive spastic paraplegia type 74		16
HP:0002600	HP:0002600	Hyporeflexia of lower limbs	0	IFRD1 CL E G H	3475	5456	ORPHA:98771	Spinocerebellar ataxia type 18	HP:0040282 - Frequent	1
HP:0002600	HP:0002600	Hyporeflexia of lower limbs	0	KLC2 CL E G H	64837	20716	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome	HP:0040282 - Frequent	1
HP:0002600	HP:0002600	Hyporeflexia of lower limbs	0	LDB3 CL E G H	11155	15710	ORPHA:98912	Late-onset distal myopathy, Markesbery-Griggs type		286
HP:0002600	HP:0002600	Hyporeflexia of lower limbs	0	LDB3 CL E G H	11155	15710	OMIM:609452	Myopathy, myofibrillar, 4	.	286
HP:0002600	HP:0002600	Hyporeflexia of lower limbs	0	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy	HP:0040281 - Very frequent	645
HP:0002600	HP:0002600	Hyporeflexia of lower limbs	0	MAG CL E G H	4099	6783	OMIM:616680	Spastic paraplegia 75, autosomal recessive	.	4
HP:0002600	HP:0002600	Hyporeflexia of lower limbs	0	MYH14 CL E G H	79784	23212	OMIM:614369	Peripheral neuropathy, myopathy, hoarseness, and hearing loss		227
HP:0002600	HP:0002600	Hyporeflexia of lower limbs	0	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy		1269
HP:0002600	HP:0002600	Hyporeflexia of lower limbs	0	MYOT CL E G H	9499	12399	OMIM:609200	MYOTILINOPATHY	.	75
HP:0002600	HP:0002600	Hyporeflexia of lower limbs	0	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E	HP:0040282 - Frequent	79
HP:0002600	HP:0002600	Hyporeflexia of lower limbs	0	PRKCG CL E G H	5582	9402	ORPHA:98763	Spinocerebellar ataxia type 14	HP:0040283 - Occasional	83
HP:0002600	HP:0002600	Hyporeflexia of lower limbs	0	RUBCN CL E G H	9711	28991	OMIM:615705	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15		9
HP:0002600	HP:0002600	Hyporeflexia of lower limbs	0	SPTLC2 CL E G H	9517	11278	OMIM:613640	Neuropathy, hereditary sensory and autonomic, type IC		149
HP:0002600	HP:0002600	Hyporeflexia of lower limbs	0	STIM1 CL E G H	6786	11386	OMIM:160565	Myopathy, tubular aggregate, 1	.	31
HP:0002600	HP:0009072	Decreased Achilles reflex	1	ADSS1 CL E G H	122622	20093	ORPHA:482601	Adenylosuccinate synthetase-like 1-related distal myopathy	HP:0040283 - Occasional
HP:0002600	HP:0011808	Decreased patellar reflex	1	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant		46
HP:0002600	HP:0009072	Decreased Achilles reflex	1	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant		46
HP:0002600	HP:0009072	Decreased Achilles reflex	1	CRYAB CL E G H	1410	2389	OMIM:608810	Myopathy, myofibrillar, 2, mfm2	.	46
HP:0002600	HP:0011808	Decreased patellar reflex	1	DYNC1H1 CL E G H	1778	2961	OMIM:158600	Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant	.	427
HP:0002600	HP:0009072	Decreased Achilles reflex	1	DYSF CL E G H	8291	3097	OMIM:254130	Miyoshi muscular dystrophy 1	.	600
HP:0002600	HP:0011808	Decreased patellar reflex	1	FBLN5 CL E G H	10516	3602	OMIM:608895	Macular degeneration, age-related, 3		63
HP:0002600	HP:0009072	Decreased Achilles reflex	1	FBXO38 CL E G H	81545	28844	OMIM:615575	Neuronopathy, distal hereditary motor, type IID		1
HP:0002600	HP:0009072	Decreased Achilles reflex	1	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A		108
HP:0002600	HP:0011808	Decreased patellar reflex	1	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040282 - Frequent	99
HP:0002600	HP:0011808	Decreased patellar reflex	1	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040282 - Frequent	60
HP:0002600	HP:0009072	Decreased Achilles reflex	1	IBA57 CL E G H	200205	27302	ORPHA:468661	Autosomal recessive spastic paraplegia type 74	HP:0040282 - Frequent	16
HP:0002600	HP:0011808	Decreased patellar reflex	1	LDB3 CL E G H	11155	15710	ORPHA:98912	Late-onset distal myopathy, Markesbery-Griggs type	HP:0040284 - Very rare	286
HP:0002600	HP:0009072	Decreased Achilles reflex	1	LDB3 CL E G H	11155	15710	ORPHA:98912	Late-onset distal myopathy, Markesbery-Griggs type	HP:0040284 - Very rare	286
HP:0002600	HP:0011808	Decreased patellar reflex	1	MYH14 CL E G H	79784	23212	OMIM:614369	Peripheral neuropathy, myopathy, hoarseness, and hearing loss		227
HP:0002600	HP:0009072	Decreased Achilles reflex	1	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy	HP:0040282 - Frequent	1269
HP:0002600	HP:0011808	Decreased patellar reflex	1	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy	HP:0040282 - Frequent	1269

Genes (33) :ADSS1 ATL3 ATP6AP2 BICD2 CRYAB DES DYNC1H1 DYSF FASTKD2 FBLN5 FBXO38 FLNC FLRT1 GAN GDAP1 HADHA HADHB HSPB1 HSPB8 IBA57 IFRD1 KLC2 LDB3 LMNA MAG MYH14 MYH7 MYOT PMP22 PRKCG RUBCN SPTLC2 STIM1

Diseases (33) :ORPHA:482601 OMIM:617030 OMIM:615632 ORPHA:93952 OMIM:615290 OMIM:608810 OMIM:601419 OMIM:158600 OMIM:254130 OMIM:618855 OMIM:608895 OMIM:615575 ORPHA:63273 ORPHA:320406 OMIM:256850 ORPHA:99948 ORPHA:746 OMIM:608634 OMIM:158590 ORPHA:468661 ORPHA:98771 ORPHA:98912 OMIM:609452 ORPHA:98855 OMIM:616680 OMIM:614369 ORPHA:437572 OMIM:609200 ORPHA:90658 ORPHA:98763 OMIM:615705 OMIM:613640 OMIM:160565

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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