eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| senior-loken syndrome | ||||
| Disease ID | 924 |
|---|---|
| Disease | senior-loken syndrome |
| Synonym | juvenile nephronophthisis with leber amaurosis loken senior syndrome loken-senior syndrome renal dysplasia and retinal aplasia renal dysplasia and retinal aplasia (disorder) renal dysplasia retinal aplasia renal-retinal syndrome senior loken syndrome senior-loken syndrome 1 senior-løken syndrome slsn1 |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0403553 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:10) 80184 | CEP290 | ORPHANET;GHR;UNIPROT;UniProtKB-KW 27031 | NPHP3 | ORPHANET;UNIPROT 26146 | TRAF3IP1 | ORPHANET 9657 | IQCB1 | GHR;UNIPROT;ORPHANET 57728 | WDR19 | ORPHANET;GHR;UniProtKB-KW 10806 | SDCCAG8 | ORPHANET;GHR 4867 | NPHP1 | CLINVAR;GHR;ORPHANET;UniProtKB-KW;UNIPROT;CTD_human 261734 | NPHP4 | ORPHANET;GHR;UNIPROT;UniProtKB-KW 27130 | INVS | ORPHANET 22897 | CEP164 | ORPHANET |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:20) 200894 | ARL13B | 3.424 | DISEASES 801 | CALM1 | 1.222 | DISEASES 57545 | CC2D2A | 3.47 | DISEASES 80184 | CEP290 | 5.29 | DISEASES 54875 | CNTLN | 2.743 | DISEASES 23418 | CRB1 | 2.389 | DISEASES 9742 | IFT140 | 5.181 | DISEASES 3767 | KCNJ11 | 1.141 | DISEASES 54903 | MKS1 | 4.437 | DISEASES 27031 | NPHP3 | 3.211 | DISEASES 261734 | NPHP4 | 3.903 | DISEASES 8481 | OFD1 | 3.106 | DISEASES 6103 | RPGR | 3.828 | DISEASES 57096 | RPGRIP1 | 2.813 | DISEASES 23322 | RPGRIP1L | 2.811 | DISEASES 10806 | SDCCAG8 | 3.392 | DISEASES 51259 | TMEM216 | 4.779 | DISEASES 91147 | TMEM67 | 4.082 | DISEASES 57728 | WDR19 | 4.756 | DISEASES 63929 | XPNPEP3 | 4.33 | DISEASES |
| Locus | Symbol | Locus(Total Locus:10) |
| Disease ID | 924 |
|---|---|
| Disease | senior-loken syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:22) HP:0001263 | Global developmental delay HP:0003774 | End-stage renal failure HP:0000518 | Cataract HP:0004322 | Short stature HP:0000547 | Tapetoretinal degeneration HP:0001251 | Ataxia HP:0003774 | Stage 5 chronic kidney disease HP:0000822 | Hypertension HP:0012622 | Chronic kidney disease HP:0001903 | Anemia HP:0004348 | Abnormality of bone mineral density HP:0002612 | Congenital hepatic fibrosis HP:0000103 | Polyuria HP:0008209 | Premature ovarian failure HP:0000529 | Progressive visual loss HP:0007703 | Abnormality of retinal pigmentation HP:0001959 | Polydipsia HP:0000556 | Retinal dystrophy HP:0000505 | Visual impairment HP:0000090 | juvenile nephronophthisis HP:0000090 | Nephronophthisis HP:0010579 | Cone-shaped epiphysis |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:3) HP:0200055 | Small hand | 1 HP:0010049 | Metacarpal hypoplasia | 1 HP:0007875 | Congenital blindness | 1 |
| Disease ID | 924 |
|---|---|
| Disease | senior-loken syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C1963154 | renal failure |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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| (Waiting for update.) | |
All Snps(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:9) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000529 | Progressive visual loss | MP:0010749 | absent visual evoked potential | absence of a characteristic electroencephalographic pattern recorded from the occipital area generated in response to retinal stimulation such as flashing lights or inverting a contrasting image; absence may indicate blindness |
| HP:0012622 | Chronic kidney disease | MP:0011565 | kidney papillary hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, of the apex of the renal pyramid that normally projects into a calyx |
| HP:0000547 | Tapetoretinal degeneration | MP:0013600 | testis degeneration | a retrogressive impairment of function or destruction of either or both of the male reproductive glands |
| HP:0004348 | Abnormality of bone mineral density | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
| 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 |
| HP:0001263 | Global developmental delay | MP:0002084 | abnormal developmental patterning | abnormal systematic arrangement of the developing body along an axis |
| HP:0008209 | Premature ovarian failure | MP:0011125 | decreased primary ovarian follicle number | fewer than normal numbers of the ovarian follicle prior to the appearance of an antrum, normally marked by developmental changes in the primary oocyte and follicular cells so that the latter form one or more layers of cuboidal or columnar cells; the folli |
| HP:0007703 | Abnormality of retinal pigmentation | MP:0011665 | d-loop transposition of the great arteries | complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th |
| HP:0002612 | Congenital hepatic fibrosis | MP:0009501 | abnormal hepatic duct morphology | any structural anomaly of the two canals (left and right) that collect and drain bile from the left and right half of the liver from the biliary ductules and join external to the liver to form the common hepatic duct |
Mapped by homologous gene(Total Items:20) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001263 | Global developmental delay | 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:0012622 | Chronic kidney disease | 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:0000547 | Tapetoretinal degeneration | MP:0013600 | testis degeneration | a retrogressive impairment of function or destruction of either or both of the male reproductive glands |
| 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:0004348 | Abnormality of bone mineral density | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000518 | Cataract | 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:0000103 | Polyuria | MP:0013572 | abnormal parathyroid gland chief cell morphology | any structural anomaly of an epithelial cell that are collectively arranged in wide, irregular interconnecting columns in the parathyroid gland, that is responsible for the synthesis and secretion of parathyroid hormone (PTH) |
| HP:0001959 | Polydipsia | MP:0013572 | abnormal parathyroid gland chief cell morphology | any structural anomaly of an epithelial cell that are collectively arranged in wide, irregular interconnecting columns in the parathyroid gland, that is responsible for the synthesis and secretion of parathyroid hormone (PTH) |
| HP:0008209 | Premature ovarian failure | MP:0013659 | abnormal erythroid lineage cell morphology | any structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes |
| HP:0000556 | Retinal dystrophy | 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:0000529 | Progressive visual loss | 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:0000090 | Nephronophthisis | MP:0013349 | small Rathke's pouch | reduced size of the pouch of ectoderm which grows out from the upper surface of the embryonic stomodeum and gives rise to the anterior and intermediate lobes of the pituitary gland |
| HP:0010579 | Cone-shaped epiphysis | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0000505 | Visual impairment | 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:0002612 | Congenital hepatic fibrosis | MP:0013504 | increased embryonic tissue cell apoptosis | increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death |
| HP:0001251 | Ataxia | MP:0020301 | short tongue | decreased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor |
| HP:0007703 | Abnormality of retinal pigmentation | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0004322 | Short stature | 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:0000822 | Hypertension | 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:0001903 | Anemia | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| Disease ID | 924 |
|---|---|
| Disease | senior-loken syndrome |
| Case | (Waiting for update.) |