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:
Abnormality of metabolism/homeostasis (HP:0001939)

Parent Node:
Abnormal myocardium morphology (HP:0001637)

Parent Node:
Amyloidosis (HP:0011034)

..Starting node
..Cardiac amyloidosis (HP:0030843)

Term ID:

30843

Name:

Cardiac amyloidosis

Synonym:

Amyloid cardiomyopathy

Definition:

Extracellular deposition in cardiac tissue of a proteinaceous material that, when stained with Congo red, demonstrates apple-green birefringence under polarized light and that has a distinct color when stained with sulfated Alcian blue. Viewed with electron microscopy, the amyloid deposits are seen to be composed of a beta-sheet fibrillar material. These nonbranching fibrils have a diameter of 7.5 to 10 nm and are the result of protein misfolding.

Comments:

Reference:

HP:0030843

Genes and Diseases:

Child Nodes:

........

Monoclonal light chain cardiac amyloidosis (HP:0031326)

........

Transthyretin cardiac amyloidosis (HP:0031327)

Sister Nodes:

Amyloidosis of peripheral nerves (HP:0100292)

Cerebral amyloid angiopathy (HP:0011970)

Conjunctival amyloidosis (HP:0010637)

Cutaneous amyloidosis (HP:0012309)

Generalized amyloid deposition (HP:0003216)

Hepatic amyloidosis (HP:0012280)

Renal amyloidosis (HP:0001917)

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:0030843	HP:0030843	Cardiac amyloidosis	0	B2M CL E G H	567	914	ORPHA:314652	Variant ABeta2M amyloidosis	HP:0040283 - Occasional	8
HP:0030843	HP:0030843	Cardiac amyloidosis	0	GSN CL E G H	2934	4620	OMIM:105120	Amyloidosis, Finnish type	.	53
HP:0030843	HP:0030843	Cardiac amyloidosis	0	TTR CL E G H	7276	12405	ORPHA:85451	ATTRV122I amyloidosis		107
HP:0030843	HP:0031327	Transthyretin cardiac amyloidosis	1	CL E G H
HP:0030843	HP:0031326	Monoclonal light chain cardiac amyloidosis	1	CL E G H

Genes (3) :B2M GSN TTR

Diseases (3) :ORPHA:314652 OMIM:105120 ORPHA:85451

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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