Human Phenotype Ontology 
Grandparent Node:
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Abnormality of metabolism/homeostasis (HP:0001939)help
Parent Node:
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Abnormal renal morphology (HP:0012210)help
Parent Node:
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Amyloidosis (HP:0011034)help
..Starting node
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Renal amyloidosis (HP:0001917)help
Term ID: 1917
Name: Renal amyloidosis
Synonym:
Definition: A form of amyloidosis that affects the kidney. On hematoxylin and eosin stain, amyloid is identified as extracellular amorphous material that is lightly eosinophilic. These deposits often stain weakly for periodic acid Schiff (PAS), demonstrate a blue-to-gray hue on the trichrome stain and are typically negative on the Jones methenamine silver (JMS) stain. These tinctorial properties contrast with the histologic appearance of collagen, a major component of basement membranes, mesangial matrix and areas of sclerosis, which demonstrates strong positivity for PAS and JMS (See Figure 1 of PMID:25852856).
Comments:
Reference: HP:0001917
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAmyloidosis of peripheral nerves (HP:0100292) help
..expandCardiac amyloidosis (HP:0030843) help
..expandCerebral amyloid angiopathy (HP:0011970) help
..expandConjunctival amyloidosis (HP:0010637) help
..expandCutaneous amyloidosis (HP:0012309) help
..expandGeneralized amyloid deposition (HP:0003216) help
..expandHepatic amyloidosis (HP:0012280) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001917HP:0001917Renal amyloidosis0B2M CL E G H567914ORPHA:314652Variant ABeta2M amyloidosisHP:0040282 - Frequent8
HP:0001917HP:0001917Renal amyloidosis0COL7A1 CL E G H12942214ORPHA:79408Autosomal recessive generalized dystrophic epidermolysis bullosa, severe formHP:0040283 - Occasional263
HP:0001917HP:0001917Renal amyloidosis0MEFV CL E G H42106998OMIM:249100Familial Mediterranean fever, AR281
HP:0001917HP:0001917Renal amyloidosis0MEFV CL E G H42106998OMIM:134610FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT281
HP:0001917HP:0001917Renal amyloidosis0MMP1 CL E G H43127155ORPHA:79408Autosomal recessive generalized dystrophic epidermolysis bullosa, severe formHP:0040283 - Occasional6
HP:0001917HP:0001917Renal amyloidosis0NLRP3 CL E G H11454816400OMIM:120100FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1217
HP:0001917HP:0001917Renal amyloidosis0NLRP3 CL E G H11454816400OMIM:191900Muckle-Wells syndrome217
HP:0001917HP:0001917Renal amyloidosis0NLRP3 CL E G H11454816400ORPHA:575Muckle-Wells syndromeHP:0040282 - Frequent217
HP:0001917HP:0001917Renal amyloidosis0SAA1 CL E G H628810513ORPHA:85445AA amyloidosisHP:0040281 - Very frequent2
HP:0001917HP:0001917Renal amyloidosis0SLC7A7 CL E G H905611065ORPHA:470Lysinuric protein intoleranceHP:0040283 - Occasional104
HP:0001917HP:0032614Renal glomerular amyloid deposition1 CL E G H
HP:0001917HP:0032613Renal interstitial amyloid deposits1 CL E G H


Genes (7) :B2M COL7A1 MEFV MMP1 NLRP3 SAA1 SLC7A7

Diseases (9) :ORPHA:314652 ORPHA:79408 OMIM:249100 OMIM:134610 OMIM:120100 OMIM:191900 ORPHA:575 ORPHA:85445 ORPHA:470
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.