Nail-patella-like renal disease

A severe nephropathy characterised by renal dysfunction, proteinuria, oedema and microscopic haematuria. It has been described in three brothers, two of which died from end-stage renal insufficiency.



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Narrow down the case reports



Total: 1 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(4.0%)		 24042019
 LMX1B mutation with residual transcriptional activity as a cause of isolated glomerulopathy.
Isojima T, Harita Y, Furuyama M, Sugawara N, Ishizuka K, Horita S, Kajiho Y, Miura K, Igarashi T, Hattori M, Kitanaka S.
Nephrol Dial Transplant. 2014;29(1):81-8.
Nephropathy
p|SUB|R|246|Q rs1191455921
Animals Child Females Homo sapiens Immunohistochemistry Kidney LIM-Homeodomain Proteins Missense Mutation Nail-Patella Syndrome Podocytes
        

Phenotype(s) retrieved from Orphanet

    Total: 6

HPO ID Term Frequency
HP:0000083 Renal insufficiency Very frequent (99-80%)
HP:0000093 Proteinuria Very frequent (99-80%)
HP:0000822 Hypertension Very frequent (99-80%)
HP:0002907 Microscopic hematuria Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0100820 Glomerulopathy Very frequent (99-80%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
LMX1B LIM homeobox transcription factor 1 beta 4010