FOCAL SEGMENTAL GLOMERULOSCLEROSIS 10

GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 10

http://purl.bioontology.org/ontology/OMIM/256020

GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 10

NPLRD

FSGS10

GLOMERULAR BASEMENT MEMBRANE DISEASE, NAIL-PATELLA SYNDROME TYPE

NAIL-PATELLA-LIKE RENAL DISEASE

C0403548

9q34.1

NPS1

FSGS10

LMX1B

http://purl.bioontology.org/ontology/OMIM/MTHU071523

http://purl.bioontology.org/ontology/OMIM/MTHU071528

http://purl.bioontology.org/ontology/OMIM/MTHU071525

http://purl.bioontology.org/ontology/OMIM/MTHU035322

http://purl.bioontology.org/ontology/OMIM/MTHU071527

http://purl.bioontology.org/ontology/OMIM/MTHU071521

http://purl.bioontology.org/ontology/OMIM/MTHU036916

http://purl.bioontology.org/ontology/OMIM/MTHU036995

http://purl.bioontology.org/ontology/OMIM/MTHU071526

http://purl.bioontology.org/ontology/OMIM/MTHU071520

http://purl.bioontology.org/ontology/OMIM/MTHU071524

http://purl.bioontology.org/ontology/OMIM/MTHU071522

http://purl.bioontology.org/ontology/OMIM/MTHU000013

http://purl.bioontology.org/ontology/OMIM/MTHU002068

http://purl.bioontology.org/ontology/OMIM/MTHU055845

http://purl.bioontology.org/ontology/OMIM/MTHU052704

http://purl.bioontology.org/ontology/OMIM/MTHU036803

Phenotype description, molecular basis known.

256020

3

pound

FOCAL SEGMENTAL GLOMERULOSCLEROSIS 10

Renal biopsy findings are highly variable, even within the same family [MISCELLANEOUS]

Highly variable phenotype and severity [MISCELLANEOUS]

Caused by mutation in the LIM homeobox transcription factor 1, beta gene (LMX1B, 602575.0014) [MOLECULAR BASIS]

No extrarenal manifestations [MISCELLANEOUS]

Progressive disorder (in some patients) [MISCELLANEOUS]

Variable age at onset (range early childhood to late adult) [MISCELLANEOUS]

T047