eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| hawkinsinuria | ||||
| Disease ID | 877 |
|---|---|
| Disease | hawkinsinuria |
| Definition | Hawkinsinuria, also called 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency, is an autosomal dominant metabolic disorder affecting the metabolism of tyrosine.[1] Normally, the breakdown of the amino acid tyrosine involves the conversion of 4-hydroxyphenylpyruvate to homogentisate by 4-Hydroxyphenylpyruvate dioxygenase. Complete deficiency of this enzyme would lead to tyrosinemia III. In rare cases, however, the enzyme is still able to produce the reactive intermediate 1,2-epoxyphenyl acetic acid, but is unable to convert this intermediate to homogentisate. The intermediate then spontaneously reacts with glutathione to form 2-L-cystein-S-yl-1,4-dihydroxy-cyclohex-5-en-1-yl acetic acid (hawkinsin). - Wikipedia Reference: https://en.wikipedia.org/wiki/hawkinsinuria |
| Synonym | 4-alpha-hydroxyphenylpyruvate hydroxylase deficiency hawkinsinuria (disorder) |
| Orphanet | |
| OMIM | |
| UMLS | C2931042 |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:1) HPD | 12q24.31 |
| Disease ID | 877 |
|---|---|
| Disease | hawkinsinuria |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:11) HP:0003161 | 4-Hydroxyphenylpyruvic aciduria HP:0001942 | Metabolic acidosis HP:0002213 | Fine hair HP:0001508 | Weight faltering HP:0008070 | Sparse hair HP:0001508 | Failure to thrive HP:0001252 | Muscular hypotonia HP:0010917 | Abnormality of tyrosine metabolism HP:0003231 | Increased tyrosine in blood HP:0003607 | 4-Hydroxyphenylacetic aciduria HP:0000821 | Hypothyroidism |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 877 |
|---|---|
| Disease | hawkinsinuria |
| Manually Symptom | (Waiting for update.) |
| 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) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:2) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs1154510 | NA | 3242 | HPD | umls:C2931042 | CLINVAR | NA | 0.360542884 | NA | HPD;LOC105370035 | 12 | 121857429 | T | C |
| rs1154510 | 11073718 | 3242 | HPD | umls:C2931042 | BeFree | A heterozygous missense mutation predicting an Ala to Thr change at codon 33 (A33T) was found in the same HPD gene in the two patients with hawkinsinuria. | 0.360542884 | 2000 | HPD;LOC105370035 | 12 | 121857429 | T | C |
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:0001942 | Metabolic acidosis | MP:0012551 | metabolic acidosis | decreased pH and bicarbonate concentration in tissues and/or body fluids caused when the body produces too much acid or when the kidneys are not removing enough acid from the body, as in diarrhea or in kidney disease |
| HP:0008070 | Sparse hair | MP:0010202 | focal dorsal hair loss | focal hair loss on the dorsal area of a rodent resulting in dorsal skin visible in a patch where hair loss occurs |
| HP:0002213 | Fine hair | MP:0010685 | abnormal hair follicle inner root sheath morphology | any structural anomaly of the multilayered tube composed of terminally differentiated hair follicle keratinocytes that is surrounded by the outer root sheath; the layers of the inner root sheath include the companion layer, Henle's layer, Huxley's layer a |
| 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:0001508 | Failure to thrive | MP:0013294 | prenatal lethality prior to heart atrial septation | death prior to the completion of heart atrial septation (Mus: E14.5-15.5) |
Mapped by homologous gene(Total Items:9) | ||||
|---|---|---|---|---|
| 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:0003161 | 4-Hydroxyphenylpyruvic aciduria | MP:0013724 | decreased circulating tyrosine level | the amount of the amino acid histidine in the blood is less than expected |
| HP:0003231 | Hypertyrosinemia | MP:0013724 | decreased circulating tyrosine level | the amount of the amino acid histidine in the blood is less than expected |
| HP:0001508 | Failure to thrive | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0008070 | Sparse hair | MP:0014179 | abnormal blood-retinal barrier function | anomaly in the function of the part of the blood-ocular barrier that consists of cells that are joined tightly together to prevent certain substances from entering the tissue of the retina; the BRB consists of non-fenestrated capillaries of the retinal ci |
| HP:0001942 | Metabolic acidosis | MP:0014206 | decreased intestinal epithelial sodium ion transmembrane transport | |
| HP:0000821 | Hypothyroidism | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0002213 | Fine hair | MP:0013897 | decreased eyelid cilium number | reduction in the number of the hairs that grow at the edge of the upper or lower eyelid |
| HP:0003607 | 4-Hydroxyphenylacetic aciduria | MP:0013724 | decreased circulating tyrosine level | the amount of the amino acid histidine in the blood is less than expected |
| Disease ID | 877 |
|---|---|
| Disease | hawkinsinuria |
| Case | (Waiting for update.) |