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:
Abnormal muscle fiber morphology (HP:0004303)

Parent Node:
Muscle fiber atrophy (HP:0100295)

..Starting node
..Type 1 muscle fiber atrophy (HP:0011807)

Term ID:

11807

Name:

Type 1 muscle fiber atrophy

Synonym:

Type 1 muscle fibre atrophy

Definition:

Atrophy (wasting) affecting primary type 1 muscle fibers. This feature in general can only be observed on muscle biopsy.

Comments:

Reference:

HP:0011807

Genes and Diseases:

Child Nodes:

Sister Nodes:

Type 2 muscle fiber atrophy (HP:0003554)

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:0011807	HP:0011807	Type 1 muscle fiber atrophy	0	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040281 - Very frequent	96
HP:0011807	HP:0011807	Type 1 muscle fiber atrophy	0	ALG14 CL E G H	199857	28287	OMIM:619036	MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA		12
HP:0011807	HP:0011807	Type 1 muscle fiber atrophy	0	EMD CL E G H	2010	3331	OMIM:310300	Emery-Dreifuss muscular dystrophy 1, X-linked	.	107
HP:0011807	HP:0011807	Type 1 muscle fiber atrophy	0	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	107
HP:0011807	HP:0011807	Type 1 muscle fiber atrophy	0	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	68
HP:0011807	HP:0011807	Type 1 muscle fiber atrophy	0	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040281 - Very frequent	2
HP:0011807	HP:0011807	Type 1 muscle fiber atrophy	0	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040283 - Occasional	8
HP:0011807	HP:0011807	Type 1 muscle fiber atrophy	0	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040283 - Occasional	8
HP:0011807	HP:0011807	Type 1 muscle fiber atrophy	0	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040281 - Very frequent	127
HP:0011807	HP:0011807	Type 1 muscle fiber atrophy	0	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	645
HP:0011807	HP:0011807	Type 1 muscle fiber atrophy	0	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	645
HP:0011807	HP:0011807	Type 1 muscle fiber atrophy	0	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040281 - Very frequent	2
HP:0011807	HP:0011807	Type 1 muscle fiber atrophy	0	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040281 - Very frequent	131
HP:0011807	HP:0011807	Type 1 muscle fiber atrophy	0	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia	HP:0040282 - Frequent	1200
HP:0011807	HP:0011807	Type 1 muscle fiber atrophy	0	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040281 - Very frequent	144
HP:0011807	HP:0011807	Type 1 muscle fiber atrophy	0	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness		3
HP:0011807	HP:0011807	Type 1 muscle fiber atrophy	0	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	1129
HP:0011807	HP:0011807	Type 1 muscle fiber atrophy	0	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	508
HP:0011807	HP:0011807	Type 1 muscle fiber atrophy	0	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	171
HP:0011807	HP:0011807	Type 1 muscle fiber atrophy	0	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040281 - Very frequent	54
HP:0011807	HP:0011807	Type 1 muscle fiber atrophy	0	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040281 - Very frequent	108

Genes (18) :ACTA1 ALG14 EMD FHL1 HACD1 HNRNPK ITGA7 LMNA MAP3K20 MYL2 RYR1 SELENON SPTBN4 SYNE1 SYNE2 TMEM43 TPM2 TPM3

Diseases (10) :ORPHA:2020 OMIM:619036 OMIM:310300 ORPHA:98863 ORPHA:352665 ORPHA:453504 ORPHA:98853 ORPHA:98855 ORPHA:98905 OMIM:617519

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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