| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 2 (39.0%) |
3095585 |
Maternal phenylketonuria. Koch R, Friedman EG, Wenz E, Jew K, Crowley C, Donnell G. J Inherit Metab Dis. 1986;9 Suppl 2:159-68. |
| Microcephaly | ||
| Adult Females Homo sapiens Phenylketonurias Pregnancy Pregnancy Complications | ||
| 2 (39.0%) |
1915502 |
Maternal phenylketonuria syndrome in cousins caused by mild, unrecognized phenylketonuria in their mothers homozygous for the phenylalanine hydroxylase Arg-261-Gln mutation. Superti-Furga A, Steinmann B, Duc G, Gitzelmann R. Eur J Pediatr. 1991;150(7):493-7. |
| Microcephaly | ||
| PAH | ||
| p|SUB|R|261|Q;RS#:5030849 rs5030849 | ||
| Adult Base Sequence Females Homo sapiens Homozygote Infant Infant, Newborn Male Microcephaly Molecular Sequence Data Mutation Phenylalanine Hydroxylase Phenylketonurias | ||
| 2 (39.0%) |
837853 |
[Children of mothers with phenylketonuria (author's transl)]. Hornchen H, Stuhlsatz HW, Plagemann L, Eberle P, Habedank M. Dtsch Med Wochenschr. 1977;102(9):308-12. |
| Microcephaly | ||
| Cerebral Palsy Child Epilepsy Females Homo sapiens Intellectual Disability Male Maternal-Fetal Exchange Microcephaly Phenylketonurias Pregnancy Pregnancy Complications | ||
| 24 (4.0%) |
24051226 |
Undiagnosed phenylketonuria in parents of phenylketonuric patients, is it worthwhile to be checked? Wiedemann A, Leheup B, Battaglia-Hsu SF, Jonveaux P, Jeannesson E, Feillet F. Mol Genet Metab. 2013;110 Suppl:S62-5. |
| Hyperphenylalaninemia | ||
| Females Genetic Counseling Health Knowledge, Attitudes, Practice Health Risk Assessment Homo sapiens Infant, Newborn Lithuania Male Mutation Mutation Rate Neonatal Screening Phenylalanine Hydroxylase Phenylketonuria, Maternal Phenylketonurias Pregnancy | ||
| 24 (4.0%) |
19322676 |
Maternal tetrahydrobiopterin deficiency: the course of two pregnancies and follow-up of two children in a mother with 6-pyruvoyl-tetrahydropterin synthase deficiency. Giewska M, Hnatyszyn G, Sagan L, Cyrylowski L, Zekanowski C, Modrzejewska M, Nestorowicz B, Kubalska J, Walczak M. J Inherit Metab Dis. 2009;32 Suppl 1:S83-9. |
| Diabetes mellitus | ||
| PTS | ||
| Biopterin Child Child, Preschool Delayed Diagnosis Females Homo sapiens Infant, Newborn Male Phenylketonurias Phosphorus-Oxygen Lyases Pregnancy Pregnancy Complications Pregnancy Outcome Young Adult | ||
| 24 (4.0%) |
18201217 |
Neuropathology of a 4-month-old infant born to a woman with phenylketonuria. Koch R, Verma S, Gilles FH. Dev Med Child Neurol. 2008;50(3):230-3. |
| Ventriculomegaly | ||
| Adult Biopsy Cerebrosides Fatal Outcome Females Homo sapiens Infant Magnetic Resonance Imaging Phenylketonuria, Maternal Pregnancy Prosencephalon Sulfoglycosphingolipids | ||
| 24 (4.0%) |
16338627 |
Tetrahydrobiopterin and maternal PKU. Koch R, Moseley K, Guttler F. Mol Genet Metab. 2005;86 Suppl 1:S139-41. |
| Nausea and vomiting | ||
| p|SUB|F|39|L p|SUB|R|408|W | ||
| Adult Amino Acid Metabolism, Inborn Errors Biopterin Combined Modality Therapy Diet, Protein-Restricted Females Homo sapiens Infant, Newborn Mutation Neonatal Screening Phenylalanine Hydroxylase Phenylketonuria, Maternal Phenylketonurias Pregnancy | ||
| 24 (4.0%) |
10224766 |
[Maternal PKU syndrome as an obstetric problem: literature review and own clinical experience]. Rogowiecka E, Sendecka E, Chazan B, Cabalska B, Bankowska E. Ginekol Pol. 1998;69(12):1007-15. |
| Cataract | ||
| Adult Females Homo sapiens Phenylketonuria, Maternal Pregnancy Pregnancy Complications Severity of Illness Index Syndrome | ||
| 24 (4.0%) |
10203668 |
Undiagnosed maternal phenylketonuria: the need for prenatal selective screening or case finding. Hanley WB, Platt LD, Bachman RP, Buist N, Geraghty MT, Isaacs J, O'Flynn ME, Rhead WJ, Seidlitz G, Tishler B. Am J Obstet Gynecol. 1999;180(4):986-94. |
| Hyperphenylalaninemia | ||
| Adult Females Fetal Diseases Homo sapiens Phenylketonuria, Maternal Pregnancy Pregnancy Outcome Retrospective Studies | ||
| 24 (4.0%) |
7333407 |
Maternal phenylketonuria: the outcome of pregnancy. Lorijn RH, Sengers RC, Trijbels JM. Eur J Obstet Gynecol Reprod Biol. 1981;12(5):281-5. |
| Amenorrhea | ||
| Females Homo sapiens Infant, Newborn Low Birth Weight Infant Microcephaly Phenylketonurias Pregnancy Pregnancy Complications |
Total: 32
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001627 | Abnormal heart morphology | Very frequent (99-80%) |
| HP:0000252 | Microcephaly | Frequent (79-30%) |
| HP:0001249 | Intellectual disability | Frequent (79-30%) |
| HP:0001263 | Global developmental delay | Frequent (79-30%) |
| HP:0001511 | Intrauterine growth retardation | Frequent (79-30%) |
| HP:0001680 | Coarctation of aorta | Frequent (79-30%) |
| HP:0001999 | Abnormal facial shape | Frequent (79-30%) |
| HP:0004383 | Hypoplastic left heart | Frequent (79-30%) |
| HP:0000218 | High palate | Occasional (29-5%) |
| HP:0000343 | Long philtrum | Occasional (29-5%) |
| HP:0000347 | Micrognathia | Occasional (29-5%) |
| HP:0000431 | Wide nasal bridge | Occasional (29-5%) |
| HP:0000463 | Anteverted nares | Occasional (29-5%) |
| HP:0000752 | Hyperactivity | Occasional (29-5%) |
| HP:0001250 | Seizures | Occasional (29-5%) |
| HP:0001629 | Ventricular septal defect | Occasional (29-5%) |
| HP:0001636 | Tetralogy of Fallot | Occasional (29-5%) |
| HP:0001719 | Double outlet right ventricle | Occasional (29-5%) |
| HP:0002079 | Hypoplasia of the corpus callosum | Occasional (29-5%) |
| HP:0000286 | Epicanthus | Very rare (4-1%) |
| HP:0000340 | Sloping forehead | Very rare (4-1%) |
| HP:0000486 | Strabismus | Very rare (4-1%) |
| HP:0000601 | Hypotelorism | Very rare (4-1%) |
| HP:0001156 | Brachydactyly | Very rare (4-1%) |
| HP:0001488 | Bilateral ptosis | Very rare (4-1%) |
| HP:0002032 | Esophageal atresia | Very rare (4-1%) |
| HP:0002836 | Bladder exstrophy | Very rare (4-1%) |
| HP:0004411 | Deviated nasal septum | Very rare (4-1%) |
| HP:0008589 | Hypoplastic helices | Very rare (4-1%) |
| HP:0009611 | Bifid distal phalanx of the thumb | Very rare (4-1%) |
| HP:0012210 | Abnormal renal morphology | Very rare (4-1%) |
| HP:0030084 | Clinodactyly | Very rare (4-1%) |
Total: 10
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000252 | Microcephaly | 10 |
| HP:0000756 | Agoraphobia | 1 |
| HP:0001249 | Intellectual disability | 1 |
| HP:0001250 | Seizures | 1 |
| HP:0001629 | Ventricular septal defect | 1 |
| HP:0002023 | Anal atresia | 1 |
| HP:0002079 | Hypoplasia of the corpus callosum | 1 |
| HP:0004923 | Hyperphenylalaninemia | 1 |
| HP:0025356 | Psychomotor retardation | 1 |
| HP:0100543 | Cognitive impairment | 1 |