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:
Involuntary movements (HP:0004305)

Parent Node:
Myoclonus (HP:0001336)

..Starting node
..Cortical myoclonus (HP:0040148)

Term ID:

40148

Name:

Cortical myoclonus

Synonym:

Definition:

Cortical myoclonus mainly affects the distal upper limbs and face, which reflects the largest cortical representations of these body areas. It is often focal, but may be multifocal, bilateral or generalized, as a consequence of intracortical and transcallosal spreading of abnormal activity. It typically occurs on voluntary action and may affect speech and gait. Cortical myoclonic jerks are stimulus sensitive, typically to touch, but sensitivity to visual stimuli is also described. Most patients with cortical myoclonus have both positive myoclonus and NM, occurring either independently or together as a complex of the two kinds of myoclonus. If cortical myoclonus is prolonged and lasts for hours, days or weeks, it is called epilepsia partials continua and is considered to be a rare form of focal epileptic status. Focal cortical myoclonus almost always points to an underlining lesion of the sensori-motor cortex, which produces hyperexcitability (e.g. vascular, inflammatory or neoplastic).

Comments:

Reference:

HP:0040148

Genes and Diseases:

Child Nodes:

Sister Nodes:

Chin myoclonus (HP:0012462)

Erratic myoclonus (HP:0025357)

Eyelid myoclonus (HP:0025097)

Limb myoclonus (HP:0045084)

Morning myoclonic jerks (HP:0007000)

Myoclonic spasms (HP:0003739)

Palatal myoclonus (HP:0010530)

Sleep myoclonus (HP:0012323)

Spinal myoclonus (HP:0010531)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0040148	HP:0040148	Cortical myoclonus	0	CASR CL E G H	846	428	Autosomal dominant hypocalcemia		CN228164	ORPHA	1	2330	1514	601199
HP:0040148	HP:0040148	Cortical myoclonus	0	GNA11 CL E G H	2767	428	Autosomal dominant hypocalcemia		CN228164	ORPHA	1	283	4379	139313
HP:0040148	HP:0040148	Cortical myoclonus	0	PGM3 CL E G H	5238	615816	Immunodeficiency 23	615816	C4014371	OMIM	1	359	8907	172100
HP:0040148	HP:0033054	Myoclonic tremor	1	CASR CL E G H	846	428	Autosomal dominant hypocalcemia		CN228164	ORPHA	1	2330	1514	601199
HP:0040148	HP:0033054	Myoclonic tremor	1	GNA11 CL E G H	2767	428	Autosomal dominant hypocalcemia		CN228164	ORPHA	1	283	4379	139313
HP:0040148	HP:0033054	Myoclonic tremor	1	PGM3 CL E G H	5238	615816	Immunodeficiency 23	615816	C4014371	OMIM	1	359	8907	172100
HPO disease - gene - phenotype less frequent non-typical associations:

Genes (3) :CASR GNA11 PGM3

Diseases (2) :428 615816

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.

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