eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| hyperphenylalaninemia | ||||
| Disease ID | 1314 |
|---|---|
| Disease | hyperphenylalaninemia |
| Definition | any of several autosomal recessive defects in the hydroxylation of phenylalanine resulting in accumulation and excretion of dietary phenylalanine; most commonly the defect is in the enzyme phenylalanine 4-monooxygenase; the most severe manifestation of this is classic PHENYLKETONURIA, but two benign forms also occur; rarely the defect is one of tetrahydrobiopterin metabolism. |
| Synonym | hyperphenylalaninaemia hyperphenylalaninaemias hyperphenylalaninemia (disorder) hyperphenylalaninemia, nos |
| Orphanet | |
| UMLS | C0751435 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:3) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1314 |
|---|---|
| Disease | hyperphenylalaninemia |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:3) |
| Disease ID | 1314 |
|---|---|
| Disease | hyperphenylalaninemia |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:5) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:18) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs118203925 | NA | 5053 | PAH | umls:C0751435 | CLINVAR | NA | 0.152421135 | NA | PAH | 12 | 102912819 | G | T,A |
| rs199475663 | 18937047 | 5053 | PAH | umls:C0751435 | BeFree | The p.R155H mutant displayed low PAH activity and decreased apparent affinity for L-Phe yet was observed in mild hyperphenylalaninaemia. | 0.152421135 | 2009 | PAH | 12 | 102866641 | C | T,G |
| rs386626624 | 11914042 | 5053 | PAH | umls:C0751435 | BeFree | A 25-year-old woman with mild hyperphenylalaninemia due to a PAH mutation of IVS12nt1g-->a/E390G has been treated for 1 year with BH4 therapy. | 0.152421135 | 2002 | NA | NA | NA | NA | NA |
| rs5030841 | 10720436 | 5053 | PAH | umls:C0751435 | BeFree | The F39L, L48S, and I65T PAH mutations were selected because each is associated with a spectrum of in vivo HPA among patients. | 0.152421135 | 2000 | PAH | 12 | 102912816 | A | G |
| rs5030856 | NA | 5053 | PAH | umls:C0751435 | CLINVAR | NA | 0.152421135 | NA | PAH | 12 | 102843676 | T | C |
| rs5030860 | NA | 5053 | PAH | umls:C0751435 | CLINVAR | NA | 0.152421135 | NA | PAH | 12 | 102840474 | T | C |
| rs62507347 | NA | 5053 | PAH | umls:C0751435 | CLINVAR | NA | 0.152421135 | NA | PAH | 12 | 102894860 | T | G,C |
| rs62508689 | NA | 5053 | PAH | umls:C0751435 | CLINVAR | NA | 0.152421135 | NA | PAH | 12 | 102844333 | T | G,C |
| rs62514891 | NA | 5053 | PAH | umls:C0751435 | CLINVAR | NA | 0.152421135 | NA | PAH | 12 | 102917130 | T | C,A |
| rs62516060 | NA | 5053 | PAH | umls:C0751435 | CLINVAR | NA | 0.152421135 | NA | PAH | 12 | 102844404 | G | A |
| rs62516151 | NA | 5053 | PAH | umls:C0751435 | CLINVAR | NA | 0.152421135 | NA | PAH | 12 | 102894826 | G | T |
| rs62642926 | 10720436 | 5053 | PAH | umls:C0751435 | BeFree | The F39L, L48S, and I65T PAH mutations were selected because each is associated with a spectrum of in vivo HPA among patients. | 0.152421135 | 2000 | PAH | 12 | 102912842 | G | C |
| rs62642934 | NA | 5053 | PAH | umls:C0751435 | CLINVAR | NA | 0.152421135 | NA | PAH | 12 | 102846948 | T | C |
| rs62642937 | NA | 5053 | PAH | umls:C0751435 | CLINVAR | NA | 0.152421135 | NA | PAH | 12 | 102843706 | G | A |
| rs62644499 | NA | 5053 | PAH | umls:C0751435 | CLINVAR | NA | 0.152421135 | NA | PAH | 12 | 102840472 | C | T |
| rs74486803 | NA | 5053 | PAH | umls:C0751435 | CLINVAR | NA | 0.152421135 | NA | PAH | 12 | 102855315 | C | A,G,T |
| rs75193786 | 10720436 | 5053 | PAH | umls:C0751435 | BeFree | The F39L, L48S, and I65T PAH mutations were selected because each is associated with a spectrum of in vivo HPA among patients. | 0.152421135 | 2000 | PAH | 12 | 102894893 | A | T,G,C |
| rs76212747 | NA | 5053 | PAH | umls:C0751435 | CLINVAR | NA | 0.152421135 | NA | PAH | 12 | 102852923 | A | T,G |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
| Disease ID | 1314 |
|---|---|
| Disease | hyperphenylalaninemia |
| Case | (Waiting for update.) |