RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: Pierson syndrome
Accession: DOID:0060852
browse the term
Definition: A syndrome characterized by nephrotic syndrome with diffuse mesangial sclerosis, proteinuria, microcoria, absence of the pupillary dilator muscle in the iris, ciliary muscle atrophy, and abnormal eye development with lens-shape, retinal and corneal anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB2 gene on chromosome 3p21. (DO)
Synonyms: exact_synonym: congenital nephrotic syndrome with ocular abnormalities and congenital myasthenic syndrome; microcoria and congenital nephrotic syndrome; microcoria-congenital nephrosis syndrome; microcoria-congenital nephrotic syndrome
primary_id: MESH:C537185
alt_id: OMIM:609049
xref: GARD:9420 ; NCI:C128145 ; ORDO:2670
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Amt
aminomethyltransferase
ISO
ClinVar Annotator: match by term: Pierson syndrome
ClinVar
PMID:15367484 PMID:28492532
NCBI chr 8:108,981,620...108,988,127
Ensembl chr 8:108,976,472...108,988,126
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C8h3orf62
similar to human chromosome 3 open reading frame 62
ISO
ClinVar Annotator: match by term: Pierson syndrome
ClinVar
PMID:15367484 PMID:28492532
NCBI chr 8:109,080,032...109,084,588
Ensembl chr 8:109,036,030...109,097,895
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C8h3orf84
similar to human chromosome 3 open reading frame 84
ISO
ClinVar Annotator: match by term: Pierson syndrome
ClinVar
PMID:15367484 PMID:28492532
NCBI chr 8:109,131,138...109,140,784
Ensembl chr 8:109,124,762...109,140,791
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Ccdc71
coiled-coil domain containing 71
ISO
ClinVar Annotator: match by term: Pierson syndrome
ClinVar
PMID:15367484 PMID:28492532
NCBI chr 8:109,146,650...109,161,749
Ensembl chr 8:109,146,359...109,165,216
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Dag1
dystroglycan 1
ISO
ClinVar Annotator: match by term: Pierson syndrome
ClinVar
PMID:15367484 PMID:28492532
NCBI chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325
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Dicer1
dicer 1 ribonuclease III
ISO
ClinVar Annotator: match by term: Pierson syndrome
ClinVar
PMID:19556464 PMID:21266384 PMID:24839956 PMID:25741868 PMID:26925222 PMID:28492532 PMID:28862265 PMID:33372952 More...
NCBI chr 6:123,627,529...123,692,278
Ensembl chr 6:123,631,250...123,693,965
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Gpx1
glutathione peroxidase 1
ISO
ClinVar Annotator: match by term: Pierson syndrome
ClinVar
PMID:15367484 PMID:28492532
NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
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Iho1
interactor of HORMAD1 1
ISO
ClinVar Annotator: match by term: Pierson syndrome
ClinVar
PMID:15367484 PMID:28492532
NCBI chr 8:109,091,134...109,126,386
Ensembl chr 8:109,092,758...109,125,434
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Klhdc8b
kelch domain containing 8B
ISO
ClinVar Annotator: match by term: Pierson syndrome
ClinVar
PMID:15367484 PMID:28492532
NCBI chr 8:109,141,594...109,146,584
Ensembl chr 8:109,141,594...109,146,918
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Lamb2
laminin subunit beta 2
ISO ISS
CTD Direct Evidence: marker/mechanism OMIM:609049 ClinVar Annotator: match by term: MICROCORIA-CONGENITAL NEPHROTIC SYNDROME | ClinVar Annotator: match by term: Pierson syndrome
OMIM CTD MouseDO ClinVar RGD
PMID:2206901 PMID:9536098 PMID:14136829 PMID:15367484 PMID:15372515 PMID:16097004 PMID:16199547 PMID:16898484 PMID:16912710 PMID:17256789 PMID:17576681 PMID:18594871 PMID:18672223 PMID:19251977 PMID:20507940 PMID:20556798 PMID:21236492 PMID:21763483 PMID:21910237 PMID:23349334 PMID:23595123 PMID:24033266 PMID:25349199 PMID:25741868 PMID:26108971 PMID:26239645 PMID:26248470 PMID:26467025 PMID:26467726 PMID:27004562 PMID:27858192 PMID:28188379 PMID:28476686 PMID:28492532 PMID:28780565 PMID:29127259 PMID:30013592 PMID:30295827 PMID:31130284 PMID:31831576 PMID:31959872 PMID:32295525 PMID:32860008 PMID:33554690 PMID:33749661 PMID:15367484 PMID:15367484 More...
RGD:7207425 , RGD:7207425
NCBI chr 8:109,178,367...109,190,552
Ensembl chr 8:109,178,409...109,190,549
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Nicn1
nicolin 1, tubulin polyglutamylase complex subunit
ISO
ClinVar Annotator: match by term: Pierson syndrome
ClinVar
PMID:15367484 PMID:28492532
NCBI chr 8:108,976,393...108,981,620
Ensembl chr 8:108,976,464...108,981,067
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Rhoa
ras homolog family member A
ISO
ClinVar Annotator: match by term: Pierson syndrome
ClinVar
PMID:15367484 PMID:28492532
NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746
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Tcta
T-cell leukemia translocation altered
ISO
ClinVar Annotator: match by term: Pierson syndrome
ClinVar
PMID:15367484 PMID:28492532
NCBI chr 8:108,988,588...108,992,324
Ensembl chr 8:108,988,590...108,991,564
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Tns2
tensin 2
ISS
OMIM:609049
MouseDO
NCBI chr 7:133,229,746...133,247,889
Ensembl chr 7:133,206,364...133,247,888
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Usp4
ubiquitin specific peptidase 4
ISO
ClinVar Annotator: match by term: Pierson syndrome
ClinVar
PMID:15367484 PMID:28492532
NCBI chr 8:109,035,402...109,079,382
Ensembl chr 8:109,036,099...109,080,427
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all