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:
Peripheral axonal degeneration (HP:0000764)

Grandparent Node:
Peripheral neuropathy (HP:0009830)

Parent Node:
Peripheral axonal neuropathy (HP:0003477)

..Starting node
..Motor axonal neuropathy (HP:0007002)

Term ID:

7002

Name:

Motor axonal neuropathy

Synonym:

Distal motor neuropathy; Length dependent motor neuropathy

Definition:

Progressive impairment of function of motor axons with muscle weakness, atrophy, and cramps. The deficits are length-dependent, meaning that muscles innervated by the longest nerves are affected first, so that for instance the arms are affected at a later age than the onset of deficits involving the lower leg.

Comments:

Reference:

HP:0007002

Genes and Diseases:

Child Nodes:

Sister Nodes:

Chronic axonal neuropathy (HP:0007267)

Sensory axonal neuropathy (HP:0003390)

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:0007002	HP:0007002	Motor axonal neuropathy	0	AAAS CL E G H	8086	13666	OMIM:231550	Achalasia-Addisonianism-Alacrima syndrome	.	57
HP:0007002	HP:0007002	Motor axonal neuropathy	0	AAAS CL E G H	8086	13666	ORPHA:869	Triple A syndrome	HP:0040283 - Occasional	57
HP:0007002	HP:0007002	Motor axonal neuropathy	0	AGTPBP1 CL E G H	23287	17258	OMIM:618276	Neurodegeneration, childhood-onset, with cerebellar atrophy		1
HP:0007002	HP:0007002	Motor axonal neuropathy	0	AIFM1 CL E G H	9131	8768	OMIM:310490	Cowchock syndrome	.	60
HP:0007002	HP:0007002	Motor axonal neuropathy	0	ATL1 CL E G H	51062	11231	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040283 - Occasional	71
HP:0007002	HP:0007002	Motor axonal neuropathy	0	ATL3 CL E G H	25923	24526	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040283 - Occasional	5
HP:0007002	HP:0007002	Motor axonal neuropathy	0	C19ORF12 CL E G H	83636	25443	ORPHA:289560	Mitochondrial membrane protein-associated neurodegeneration	HP:0040282 - Frequent	114
HP:0007002	HP:0007002	Motor axonal neuropathy	0	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4		114
HP:0007002	HP:0007002	Motor axonal neuropathy	0	COASY CL E G H	80347	29932	OMIM:615643	Neurodegeneration with brain iron accumulation 6	.	16
HP:0007002	HP:0007002	Motor axonal neuropathy	0	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome	HP:0040281 - Very frequent	17
HP:0007002	HP:0007002	Motor axonal neuropathy	0	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D
HP:0007002	HP:0007002	Motor axonal neuropathy	0	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive	.	121
HP:0007002	HP:0007002	Motor axonal neuropathy	0	GMPPA CL E G H	29926	22923	ORPHA:869	Triple A syndrome	HP:0040283 - Occasional	24
HP:0007002	HP:0007002	Motor axonal neuropathy	0	HARS1 CL E G H	3035	4816	ORPHA:488333	Autosomal dominant Charcot-Marie-Tooth disease type 2W	HP:0040282 - Frequent
HP:0007002	HP:0007002	Motor axonal neuropathy	0	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia	HP:0040282 - Frequent	12
HP:0007002	HP:0007002	Motor axonal neuropathy	0	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria	HP:0040283 - Occasional	81
HP:0007002	HP:0007002	Motor axonal neuropathy	0	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040283 - Occasional	31
HP:0007002	HP:0007002	Motor axonal neuropathy	0	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040283 - Occasional	5
HP:0007002	HP:0007002	Motor axonal neuropathy	0	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type	HP:0040283 - Occasional	4
HP:0007002	HP:0007002	Motor axonal neuropathy	0	KLC2 CL E G H	64837	20716	OMIM:609541	Spastic paraplegia, optic atrophy, and neuropathy	.	1
HP:0007002	HP:0007002	Motor axonal neuropathy	0	LMNA CL E G H	4000	6636	ORPHA:98856	Charcot-Marie-Tooth disease type 2B1		645
HP:0007002	HP:0007002	Motor axonal neuropathy	0	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040282 - Frequent	8
HP:0007002	HP:0007002	Motor axonal neuropathy	0	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome	HP:0040283 - Occasional	214
HP:0007002	HP:0007002	Motor axonal neuropathy	0	PEX10 CL E G H	5192	8851	ORPHA:247815	Autosomal recessive ataxia due to PEX10 deficiency	HP:0040281 - Very frequent	75
HP:0007002	HP:0007002	Motor axonal neuropathy	0	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B		75
HP:0007002	HP:0007002	Motor axonal neuropathy	0	PLEKHG4 CL E G H	25894	24501	ORPHA:98765	Spinocerebellar ataxia type 4	HP:0040283 - Occasional	4
HP:0007002	HP:0007002	Motor axonal neuropathy	0	PNPLA6 CL E G H	10908	16268	ORPHA:139480	Autosomal recessive spastic paraplegia type 39	HP:0040282 - Frequent	103
HP:0007002	HP:0007002	Motor axonal neuropathy	0	SLC12A6 CL E G H	9990	10914	OMIM:620068			163
HP:0007002	HP:0007002	Motor axonal neuropathy	0	SPG7 CL E G H	6687	11237	ORPHA:35689	Primary lateral sclerosis	HP:0040283 - Occasional	171
HP:0007002	HP:0007002	Motor axonal neuropathy	0	SPTLC1 CL E G H	10558	11277	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040283 - Occasional	54
HP:0007002	HP:0007002	Motor axonal neuropathy	0	SPTLC2 CL E G H	9517	11278	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040283 - Occasional	149
HP:0007002	HP:0007002	Motor axonal neuropathy	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:0007002	HP:0007002	Motor axonal neuropathy	0	TRAPPC11 CL E G H	60684	25751	ORPHA:869	Triple A syndrome	HP:0040283 - Occasional	27
HP:0007002	HP:0007002	Motor axonal neuropathy	0	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040283 - Occasional	63
HP:0007002	HP:0007002	Motor axonal neuropathy	0	VWA1 CL E G H	64856	30910	OMIM:619216	NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0007002	HP:0007002	Motor axonal neuropathy	0	WARS1 CL E G H	7453	12729	OMIM:617721	Neuronopathy, distal hereditary motor, type IX	.
HP:0007002	HP:0007002	Motor axonal neuropathy	0	WDR48 CL E G H	57599	30914	ORPHA:401800	Autosomal recessive spastic paraplegia type 60	HP:0040282 - Frequent	1
HP:0007002	HP:0007002	Motor axonal neuropathy	0	XK CL E G H	7504	12811	OMIM:300842	Mcleod syndrome	.	8

Genes (35) :AAAS AGTPBP1 AIFM1 ATL1 ATL3 C19ORF12 COASY CTDP1 EXOSC9 GAN GMPPA HARS1 HINT1 HMBS HNRNPA1 HNRNPA2B1 KCNK9 KLC2 LMNA MORC2 OPA1 PEX10 PLEKHG4 PNPLA6 SLC12A6 SPG7 SPTLC1 SPTLC2 TBCD TRAPPC11 VCP VWA1 WARS1 WDR48 XK

Diseases (31) :OMIM:231550 ORPHA:869 OMIM:618276 OMIM:310490 ORPHA:36386 ORPHA:289560 OMIM:614298 OMIM:615643 ORPHA:48431 OMIM:618065 OMIM:256850 ORPHA:488333 ORPHA:324442 ORPHA:79276 ORPHA:52430 ORPHA:166108 OMIM:609541 ORPHA:98856 ORPHA:466768 ORPHA:1215 ORPHA:247815 OMIM:614871 ORPHA:98765 ORPHA:139480 OMIM:620068 ORPHA:35689 ORPHA:496641 OMIM:619216 OMIM:617721 ORPHA:401800 OMIM:300842

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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