proteinuria
Basic details
Preferred term: proteinuria
Alt. terms: High urine protein levels | Protein in urine
HPO term: Proteinuria
HPO code: HP:0000093
GenIA ID: 547
Last updated on: 2021-12-10 17:55:48
Cross ref. with other ontologies
NCIT: C38012
MESH: D011507
EFO: -
OAE: -
SNOMEDCT: -
ICD10: -
Description
The presence of abnormal amounts of protein in the urine.
Hierarchical classification
PARENT terms
TERM
proteinuria
Reported patients added to GenIA DB
SubjectID | Sex | Fam.ID | Age* | Population | MatchedTerm | Diagnosis | Reference & Pub.codes |
---|---|---|---|---|---|---|---|
101125 | M | 210429 | 40 | German | proteinuria | Immunodeficiency, common variable, 1 | PMID:34975878 [Fam.F076:P076]; PMID:35486341 [P060] |
102933 | M | 215034 | - | proteinuria | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P22]; PMID:37419334 [P22(22)] | |
103773 | F | 215236![]() |
- | Georgian Jewish | proteinuria | Adenosine deaminase 2 deficiency | PMID:24552285 [Fam.E:II.2(E-II-2)] |
103848 | M | 215260![]() |
- | European | proteinuria | Adenosine deaminase 2 deficiency | PMID:24552284 [Fam.5:II.1(P5)] |
104568 | F | 215551![]() |
- | Pakistani | proteinuria | Autoinflammation, panniculitis, and dermatosis syndrome | PMID:27523608 [Fam.1:IV.3(IV:3)]; PMID:32231246 [IV:3(IV.3)]; PMID:27559085 [Fam.1:IV.1(P4)]; PMID:38914362 [Fam.A:V.6(027)] |
105057 | F | 215635![]() |
- | German | proteinuria | NFKB1 insufficiency | PMID:32278790 [S.I.1]; PMID:29403474 [Patient 1 (8)]; PMID:27365489 [Fam.1:II.1(Pat.1)]; PMID:150198 [Fam.AE:II.1(121)] |
105249 | M | 215676 | 4 | Turkish | Nephrotic range proteinuria | Immunodeficiency, common variable, 8 | PMID:28956255 [Fam.P2:II.2] |
105533 | M | 215791 | 44 | Portuguese | proteinuria | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29225858 [Patient(I.1)] |
106350 | M | 215996 | 75 | proteinuria | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [Fam.CM:I.2(CM.I.2)] |
*Age: age reported at the first known time of manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).