| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (21.2%) |
1448273 |
[Biochemical, clinical and genetic analysis of various aminoacidopathies (non-ketotic hyperglycemia, maple syrup urine disease, histidinemia, tyrosinemia)]. Laszlo A, Nagy I, Szucs L, Havass Z, Sztriha L, Svekus A, Veres E. Orv Hetil. 1992;133(48):3075-80. |
| Rickets | ||
| Amino Acid Metabolism, Inborn Errors Females Homo sapiens Hyperglycemia Infant Infant, Newborn Male Maple Syrup Urine Disease | ||
| 2 (4.0%) |
25003378 |
Acquired hypothyroidism due to iodine deficiency in an American child. Brooks MJ, Post EM. J Pediatr Endocrinol Metab. 2014;27(11-12):1233-5. |
| Hypothyroidism | ||
| Adult Child Dietary Supplements Females Homo sapiens Hypothyroidism Male | ||
| 2 (4.0%) |
14739680 |
Glycine N -methyltransferase deficiency: a new patient with a novel mutation. Augoustides-Savvopoulou P, Luka Z, Karyda S, Stabler SP, Allen RH, Patsiaoura K, Wagner C, Mudd SH. J Inherit Metab Dis. 2003;26(8):745-59. |
| Hepatitis | ||
| CBS GNMT MAT1A | ||
| p|SUB|N|140|S;RS#:864321678 rs864321678 | ||
| Child, Preschool Homo sapiens Male Methyltransferase Mutation | ||
| 2 (4.0%) |
7486720 |
[Alternaria tenuissima plurifocal cutaneous infection]. Castanet J, Lacour JP, Toussaint-Gary M, Perrin C, Rodot S, Ortonne JP. Ann Dermatol Venereol. 1995;122(3):115-8. |
| Retroperitoneal fibrosis | ||
| Dermatomycoses Homo sapiens Immunocompromised Host Male | ||
| 2 (4.0%) |
6823923 |
Histidinemia. A case with resolution of myoclonic seizures after treatment with a low-histidine diet. Dyme IZ, Horwitz SJ, Bacchus B, Kerr DS. Am J Dis Child. 1983;137(3):256-8. |
| Seizure | ||
| Amino Acid Metabolism, Inborn Errors Homo sapiens Infant Intellectual Disability Language Development Disorders Male Myoclonus | ||
| 2 (4.0%) |
6796774 |
Renal Histidinuria. Kamoun PP, Parvy P, Cathelineau L, Meyer B. J Inherit Metab Dis. 1981;4(4):217-9. |
| Seizure | ||
| Amino Acid Metabolism, Inborn Errors Amino Acids Child, Preschool Homo sapiens Kidney Male | ||
| 2 (4.0%) |
6790399 |
[Clinical studies of histidinemia (author's transl)]. Anakura M. Hokkaido Igaku Zasshi. 1981;56(1):1-15. |
| Anemia | ||
| HAL | ||
| Amino Acid Metabolism, Inborn Errors Amino Acids Bacillus subtilis Biological Assay Child, Preschool Homo sapiens Inborn Errors of Metabolism Infant Infant, Newborn Male | ||
| 2 (4.0%) |
2605319 |
Metabolic correlates of learning disability. Nyhan WL, Wulfeck BB, Tallal P, Marsden DL. Birth Defects Orig Artic Ser. 1989;25(6):153-69. |
| Short attention span | ||
| Child Child, Preschool Females Homo sapiens Inborn Errors of Metabolism Language Development Disorders Language Tests Learning Disabilities Male Maple Syrup Urine Disease Methylmalonic Acid Neuropsychological Tests Psychomotor Performance | ||
| 2 (4.0%) |
2542543 |
Acquired protein C deficiency in a patient with primary antiphospholipid syndrome. Relationship to reactivity of anticardiolipin antibody with thrombomodulin. Ruiz-Arguelles GJ, Ruiz-Arguelles A, Deleze M, Alarcon-Segovia D. J Rheumatol. 1989;16(3):381-3. |
| Hypertension | ||
| THBD | ||
| Autoantibodies Cardiolipins Enzyme-Linked Immunosorbent Assay Homo sapiens Male Protein C Deficiency Receptors, Cell Surface Syndrome Thrombin Receptor Thrombophlebitis | ||
| 2 (4.0%) |
2469414 |
Joubert's syndrome associated with congenital ocular fibrosis and histidinemia. Appleton RE, Chitayat D, Jan JE, Kennedy R, Hall JG. Arch Neurol. 1989;46(5):579-82. |
| Ptosis | ||
| Ataxia Cerebellum Developmental Disabilities Females Fibrosis Homo sapiens Infant Myopathy Psychomotor Performance Respiration Disorders Syndrome X-Ray Computed Tomography |
Total: 7
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0002927 | Histidinuria | Obligate (100%) |
| HP:0010906 | Hyperhistidinemia | Obligate (100%) |
| HP:0000708 | Behavioral abnormality | Very rare (4-1%) |
| HP:0000752 | Hyperactivity | Very rare (4-1%) |
| HP:0001328 | Specific learning disability | Very rare (4-1%) |
| HP:0002167 | Neurological speech impairment | Very rare (4-1%) |
| HP:0011343 | Moderate global developmental delay | Very rare (4-1%) |
Total: 3
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001250 | Seizures | 2 |
| HP:0002912 | Methylmalonic acidemia | 1 |
| HP:0003074 | Hyperglycemia | 1 |