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:
Muscle fiber inclusion bodies (HP:0100299)

Parent Node:
Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)

..Starting node
..Muscle fiber tubular inclusions (HP:0100301)

Term ID:

100301

Name:

Muscle fiber tubular inclusions

Synonym:

Muscle fiber tubular aggregates; Muscle fibre tubular aggregates; Muscle fibre tubular inclusions

Definition:

Unusual regions of densely packed membranous tubules known as tubular aggregates which present as membranous inclusions, derived from membranes of sarcoplasmic reticulum and mitochondria, containing miscellaneous proteins with a variety of enzymatic activities.

Comments:

Reference:

HP:0100301

Genes and Diseases:

Child Nodes:

Sister Nodes:

Desmin bodies (HP:0100300)

Muscle fiber hyaline bodies (HP:0100306)

Muscle fiber tubuloreticular inclusions (HP:0100302)

Nemaline bodies (HP:0003798)

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:0100301	HP:0100301	Muscle fiber tubular inclusions	0	ALG14 CL E G H	199857	28287	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent	12
HP:0100301	HP:0100301	Muscle fiber tubular inclusions	0	ALG2 CL E G H	85365	23159	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent	46
HP:0100301	HP:0100301	Muscle fiber tubular inclusions	0	CASQ1 CL E G H	844	1512	ORPHA:2593	Tubular aggregate myopathy	HP:0040281 - Very frequent	5
HP:0100301	HP:0100301	Muscle fiber tubular inclusions	0	DPAGT1 CL E G H	1798	2995	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent	38
HP:0100301	HP:0100301	Muscle fiber tubular inclusions	0	DPAGT1 CL E G H	1798	2995	OMIM:614750	Myasthenic syndrome, congenital, 13, with tubular aggregates		38
HP:0100301	HP:0100301	Muscle fiber tubular inclusions	0	GFPT1 CL E G H	2673	4241	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent	128
HP:0100301	HP:0100301	Muscle fiber tubular inclusions	0	GMPPB CL E G H	29925	22932	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent	34
HP:0100301	HP:0100301	Muscle fiber tubular inclusions	0	ORAI1 CL E G H	84876	25896	ORPHA:2593	Tubular aggregate myopathy	HP:0040281 - Very frequent	19
HP:0100301	HP:0100301	Muscle fiber tubular inclusions	0	STIM1 CL E G H	6786	11386	ORPHA:2593	Tubular aggregate myopathy	HP:0040281 - Very frequent	31

Genes (8) :ALG14 ALG2 CASQ1 DPAGT1 GFPT1 GMPPB ORAI1 STIM1

Diseases (3) :ORPHA:353327 ORPHA:2593 OMIM:614750

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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