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

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 215236tree icon - Georgian Jewish proteinuria Adenosine deaminase 2 deficiency PMID:24552285 [Fam.E:II.2(E-II-2)]
103848 M 215260tree icon - European proteinuria Adenosine deaminase 2 deficiency PMID:24552284 [Fam.5:II.1(P5)]
104568 F 215551tree icon - 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 215635tree icon - 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).