eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| pierson syndrome | ||||
| Disease ID | 814 |
|---|---|
| Disease | pierson syndrome |
| Definition | An autosomal recessive disorder caused by mutation(s) in the LAMB2 gene; it is characterized by congenital nephrotic syndrome with diffuse mesangial sclerosis and distinct ocular abnormalities. |
| Synonym | microcoria and congenital nephrotic syndrome microcoria-congenital nephrotic syndrome |
| Orphanet | |
| OMIM | |
| UMLS | C1836876 |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:12) 375790 | AGRN | 3.539 | DISEASES 23607 | CD2AP | 1.937 | DISEASES 1282 | COL4A1 | 3.73 | DISEASES 1285 | COL4A3 | 2.541 | DISEASES 1286 | COL4A4 | 2.879 | DISEASES 1287 | COL4A5 | 2.439 | DISEASES 1649 | DDIT3 | 1.775 | DISEASES 23085 | ERC1 | 3.825 | DISEASES 4868 | NPHS1 | 3.705 | DISEASES 7827 | NPHS2 | 4.024 | DISEASES 11277 | TREX1 | 2.87 | DISEASES 7490 | WT1 | 3.051 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) LAMB2 | 3p21.31 |
| Disease ID | 814 |
|---|---|
| Disease | pierson syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:12) HP:0007774 | Hypoplasia of the ciliary body HP:0001252 | Hypotonia HP:0003774 | End-stage renal failure HP:0011502 | Posterior lenticonus HP:0000618 | Blindness HP:0001967 | Diffuse mesangial sclerosis HP:0001284 | Areflexia HP:0003075 | Hypoproteinemia HP:0000100 | Nephrosis HP:0000969 | Dropsy HP:0007676 | Hypoplasia of the iris HP:0000093 | Proteinuria |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 814 |
|---|---|
| Disease | pierson syndrome |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:4) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121912488 | NA | 3913 | LAMB2 | umls:C1836876 | CLINVAR | NA | 0.562985861 | NA | LAMB2 | 3 | 49131129 | G | A |
| rs121912489 | NA | 3913 | LAMB2 | umls:C1836876 | CLINVAR | NA | 0.562985861 | NA | LAMB2 | 3 | 49126449 | G | C |
| rs121912490 | NA | 3913 | LAMB2 | umls:C1836876 | CLINVAR | NA | 0.562985861 | NA | LAMB2 | 3 | 49130334 | A | T |
| rs730880125 | NA | 3913 | LAMB2 | umls:C1836876 | CLINVAR | NA | 0.562985861 | NA | LAMB2 | 3 | 49124920 | G | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:5) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0007774 | Hypoplasia of the ciliary body | MP:0001054 | failure of neuromuscular synapse presynaptic differentiation | inability of nerve terminals to find target and/or form terminal arbors for synaptic transmission at the neuromuscular synapse |
| HP:0001252 | Muscular hypotonia | MP:0004144 | hypotonia | decreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness |
| HP:0001967 | Diffuse mesangial sclerosis | MP:0011428 | mesangial cell hypoplasia | decreased number of the phagocytic cells in the capillary tuft of the renal glomerulus, interposed between endothelial cells and the basement membrane in the central or stalk region of the tuft |
| HP:0007676 | Hypoplasia of the iris | MP:0011481 | anterior iris synechia | adhesion of the iris to the cornea |
| HP:0003774 | Stage 5 chronic kidney disease | MP:0011534 | granular kidney | a kidney in which fairly uniform, diffusely and evenly situated foci of scarring of the interstitial tissue of the cortex (and sometimes scarring of glomeruli), and the associated slight degree of bulging of groups of dilated tubules, leads to the develop |
Mapped by homologous gene(Total Items:12) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001252 | Muscular hypotonia | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000100 | Nephrotic syndrome | MP:0020216 | decreased circulating complement protein level | less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| HP:0000618 | Blindness | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000969 | Edema | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0003774 | Stage 5 chronic kidney disease | MP:0014040 | increased cellular sensitivity to DNA damaging agents | greater incidence of cell death following exposure to agents that cause DNA damage |
| HP:0011502 | Posterior lenticonus | MP:0011965 | decreased total retina thickness | decreased width of the retina through the center plane |
| HP:0000093 | Proteinuria | MP:0020216 | decreased circulating complement protein level | less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| HP:0001284 | Areflexia | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0003075 | Hypoproteinemia | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0007676 | Hypoplasia of the iris | MP:0014164 | abnormal ciliary process morphology | any structural anomaly of any of the pigmented processes that radiate from the ciliary muscle and give attachments to ligaments supporting the lens of the eye; these processes increase in thickness as they advance from the orbiculus ciliaris to the exter |
| HP:0001967 | Diffuse mesangial sclerosis | MP:0013310 | abnormal adrenal gland development | aberrant formation or incomplete differentiation of the pair of endocrine glands located above the kidney that are responsible for steroid hormone secretion from the cortex and neurotransmitter (such as epinephrine and norepinephrine) secretion from the m |
| HP:0007774 | Hypoplasia of the ciliary body | MP:0011965 | decreased total retina thickness | decreased width of the retina through the center plane |
| Disease ID | 814 |
|---|---|
| Disease | pierson syndrome |
| Case | (Waiting for update.) |