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:
Skeletal muscle atrophy (HP:0003202)

Parent Node:
Distal amyotrophy (HP:0003693)

Parent Node:
Lower limb amyotrophy (HP:0007210)

..Starting node
..Distal lower limb amyotrophy (HP:0008944)

Term ID:

8944

Name:

Distal lower limb amyotrophy

Synonym:

Lower leg amyotrophy; Lower limb atrophy; Lower limb degeneration; Lower limb muscle hypotrophy; Muscle atrophy, lower limb, distal

Definition:

Muscular atrophy of distal leg muscles.

Comments:

Reference:

HP:0008944

Genes and Diseases:

Child Nodes:

........

Tibialis atrophy (HP:0011399)

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:0008944	HP:0008944	Distal lower limb amyotrophy	0	AARS1 CL E G H	16	20	OMIM:613287	Charcot-Marie-Tooth disease, axonal, type 2N
HP:0008944	HP:0008944	Distal lower limb amyotrophy	0	ADSS1 CL E G H	122622	20093	ORPHA:482601	Adenylosuccinate synthetase-like 1-related distal myopathy	HP:0040282 - Frequent
HP:0008944	HP:0008944	Distal lower limb amyotrophy	0	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile		114
HP:0008944	HP:0008944	Distal lower limb amyotrophy	0	ATL1 CL E G H	51062	11231	ORPHA:100984	Autosomal dominant spastic paraplegia type 3	HP:0040282 - Frequent	71
HP:0008944	HP:0008944	Distal lower limb amyotrophy	0	ATL1 CL E G H	51062	11231	OMIM:613708	Neuropathy, hereditary sensory, type ID		71
HP:0008944	HP:0008944	Distal lower limb amyotrophy	0	ATL1 CL E G H	51062	11231	OMIM:182600	Spastic paraplegia 3, autosomal dominant	.	71
HP:0008944	HP:0008944	Distal lower limb amyotrophy	0	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1	HP:0040283 - Occasional	14
HP:0008944	HP:0008944	Distal lower limb amyotrophy	0	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2	HP:0040283 - Occasional	14
HP:0008944	HP:0008944	Distal lower limb amyotrophy	0	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3	HP:0040281 - Very frequent	14
HP:0008944	HP:0008944	Distal lower limb amyotrophy	0	BICD2 CL E G H	23299	17208	ORPHA:363454	BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy	HP:0040282 - Frequent	46
HP:0008944	HP:0008944	Distal lower limb amyotrophy	0	BSCL2 CL E G H	26580	15832	OMIM:619112	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC; HMN5C		105
HP:0008944	HP:0008944	Distal lower limb amyotrophy	0	CADM3 CL E G H	57863	17601	OMIM:619519	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF		1
HP:0008944	HP:0008944	Distal lower limb amyotrophy	0	CPT1C CL E G H	126129	18540	ORPHA:444099	Autosomal dominant spastic paraplegia type 73	HP:0040282 - Frequent	1
HP:0008944	HP:0008944	Distal lower limb amyotrophy	0	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type		38
HP:0008944	HP:0008944	Distal lower limb amyotrophy	0	DYSF CL E G H	8291	3097	ORPHA:45448	Miyoshi myopathy	HP:0040282 - Frequent	600
HP:0008944	HP:0008944	Distal lower limb amyotrophy	0	FBLN5 CL E G H	10516	3602	OMIM:619764	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H; CMT1H		63
HP:0008944	HP:0008944	Distal lower limb amyotrophy	0	FGD4 CL E G H	121512	19125	OMIM:609311	Charcot-marie-tooth disease, type 4H		158
HP:0008944	HP:0008944	Distal lower limb amyotrophy	0	FLNC CL E G H	2318	3756	OMIM:614065	Myopathy, distal, 4	.	197
HP:0008944	HP:0008944	Distal lower limb amyotrophy	0	FLRT1 CL E G H	23769	3760	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome	HP:0040282 - Frequent
HP:0008944	HP:0008944	Distal lower limb amyotrophy	0	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040282 - Frequent
HP:0008944	HP:0008944	Distal lower limb amyotrophy	0	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1		107
HP:0008944	HP:0008944	Distal lower limb amyotrophy	0	GJB1 CL E G H	2705	4283	ORPHA:101075	X-linked Charcot-Marie-Tooth disease type 1	HP:0040281 - Very frequent	107
HP:0008944	HP:0008944	Distal lower limb amyotrophy	0	GJB1 CL E G H	2705	4283	ORPHA:1175	X-linked progressive cerebellar ataxia	HP:0040282 - Frequent	107
HP:0008944	HP:0008944	Distal lower limb amyotrophy	0	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia	HP:0040283 - Occasional	12
HP:0008944	HP:0008944	Distal lower limb amyotrophy	0	HSPB1 CL E G H	3315	5246	ORPHA:99940	Autosomal dominant Charcot-Marie-Tooth disease type 2F	HP:0040281 - Very frequent	47
HP:0008944	HP:0008944	Distal lower limb amyotrophy	0	HSPB3 CL E G H	8988	5248	OMIM:613376	Neuronopathy, distal hereditary motor, type IIC		13
HP:0008944	HP:0008944	Distal lower limb amyotrophy	0	INF2 CL E G H	64423	23791	OMIM:614455	Charcot-Marie-Tooth disease, dominant intermediate E	.	135
HP:0008944	HP:0008944	Distal lower limb amyotrophy	0	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type	.	81
HP:0008944	HP:0008944	Distal lower limb amyotrophy	0	KIF5A CL E G H	3798	6323	ORPHA:100991	Autosomal dominant spastic paraplegia type 10	HP:0040281 - Very frequent	93
HP:0008944	HP:0008944	Distal lower limb amyotrophy	0	KLC2 CL E G H	64837	20716	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome	HP:0040282 - Frequent	1
HP:0008944	HP:0008944	Distal lower limb amyotrophy	0	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040283 - Occasional	110
HP:0008944	HP:0008944	Distal lower limb amyotrophy	0	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040283 - Occasional	173
HP:0008944	HP:0008944	Distal lower limb amyotrophy	0	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant	.	645
HP:0008944	HP:0008944	Distal lower limb amyotrophy	0	MAG CL E G H	4099	6783	ORPHA:459056	Autosomal recessive spastic paraplegia type 75	HP:0040281 - Very frequent	4
HP:0008944	HP:0008944	Distal lower limb amyotrophy	0	MAG CL E G H	4099	6783	OMIM:616680	Spastic paraplegia 75, autosomal recessive		4
HP:0008944	HP:0008944	Distal lower limb amyotrophy	0	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2	HP:0040283 - Occasional	203
HP:0008944	HP:0008944	Distal lower limb amyotrophy	0	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040281 - Very frequent	8
HP:0008944	HP:0008944	Distal lower limb amyotrophy	0	MTRFR CL E G H	91574	26784	OMIM:615035	Spastic paraplegia 55, autosomal recessive
HP:0008944	HP:0008944	Distal lower limb amyotrophy	0	MYH7 CL E G H	4625	7577	OMIM:160500	Myopathy, distal, 1		1269
HP:0008944	HP:0008944	Distal lower limb amyotrophy	0	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F	HP:0040282 - Frequent	118
HP:0008944	HP:0008944	Distal lower limb amyotrophy	0	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040282 - Frequent
HP:0008944	HP:0008944	Distal lower limb amyotrophy	0	PDK3 CL E G H	5165	8811	ORPHA:352675	X-linked Charcot-Marie-Tooth disease type 6	HP:0040281 - Very frequent	4
HP:0008944	HP:0008944	Distal lower limb amyotrophy	0	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E	HP:0040282 - Frequent	79
HP:0008944	HP:0008944	Distal lower limb amyotrophy	0	RAB7A CL E G H	7879	9788	OMIM:600882	Charcot-Marie-Tooth disease, axonal, type 2B		50
HP:0008944	HP:0008944	Distal lower limb amyotrophy	0	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia		1200
HP:0008944	HP:0008944	Distal lower limb amyotrophy	0	SLC12A6 CL E G H	9990	10914	OMIM:620068			163
HP:0008944	HP:0008944	Distal lower limb amyotrophy	0	TCAP CL E G H	8557	11610	OMIM:601954	Muscular dystrophy, limb-girdle, type 2G	.	78
HP:0008944	HP:0008944	Distal lower limb amyotrophy	0	TFG CL E G H	10342	11758	ORPHA:431329	Autosomal recessive spastic paraplegia type 57	HP:0040281 - Very frequent	18
HP:0008944	HP:0008944	Distal lower limb amyotrophy	0	TPM3 CL E G H	7170	12012	OMIM:609284	Nemaline myopathy 1	.	108
HP:0008944	HP:0008944	Distal lower limb amyotrophy	0	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus	HP:0040283 - Occasional
HP:0008944	HP:0008944	Distal lower limb amyotrophy	0	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC		214
HP:0008944	HP:0008944	Distal lower limb amyotrophy	0	TRPV4 CL E G H	59341	18083	OMIM:600175	Spinal muscular atrophy, distal, congenital nonprogressive		214
HP:0008944	HP:0008944	Distal lower limb amyotrophy	0	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040283 - Occasional	7
HP:0008944	HP:0011399	Tibialis anterior muscle atrophy	1	DYSF CL E G H	8291	3097	ORPHA:45448	Miyoshi myopathy	HP:0040282 - Frequent	600
HP:0008944	HP:0011399	Tibialis anterior muscle atrophy	1	MTRFR CL E G H	91574	26784	OMIM:615035	Spastic paraplegia 55, autosomal recessive
HP:0008944	HP:0011399	Tibialis anterior muscle atrophy	1	MYH7 CL E G H	4625	7577	OMIM:160500	Myopathy, distal, 1		1269
HP:0008944	HP:0011399	Tibialis anterior muscle atrophy	1	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia	HP:0040283 - Occasional	1200

Genes (45) :AARS1 ADSS1 ALS2 ATL1 ATXN3 BICD2 BSCL2 CADM3 CPT1C CUL4B DYSF FBLN5 FGD4 FLNC FLRT1 GIPC1 GJB1 HINT1 HSPB1 HSPB3 INF2 KDM5C KIF5A KLC2 KRT14 KRT5 LMNA MAG MFN2 MORC2 MTRFR MYH7 NEFL NOTCH2NLC PDK3 PMP22 RAB7A RYR1 SLC12A6 TCAP TFG TPM3 TRNE TRPV4 YY1

Diseases (50) :OMIM:613287 ORPHA:482601 OMIM:205100 ORPHA:100984 OMIM:613708 OMIM:182600 ORPHA:276238 ORPHA:276241 ORPHA:276244 ORPHA:363454 OMIM:619112 OMIM:619519 ORPHA:444099 OMIM:300354 ORPHA:45448 OMIM:619764 OMIM:609311 OMIM:614065 ORPHA:320406 ORPHA:98897 OMIM:302800 ORPHA:101075 ORPHA:1175 ORPHA:324442 ORPHA:99940 OMIM:613376 OMIM:614455 OMIM:300534 ORPHA:100991 ORPHA:79396 OMIM:181350 ORPHA:459056 OMIM:616680 ORPHA:99947 ORPHA:466768 OMIM:615035 OMIM:160500 ORPHA:101085 ORPHA:352675 ORPHA:90658 OMIM:600882 ORPHA:98905 OMIM:620068 OMIM:601954 ORPHA:431329 OMIM:609284 ORPHA:2596 OMIM:606071 OMIM:600175 ORPHA:506358

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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