| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (4.0%) |
28943513 (5985387) |
Neonatal Diabetes: Two Cases with Isolated Pancreas Agenesis due to Homozygous PTF1A Enhancer Mutations and One with Developmental Delay, Epilepsy, and Neonatal Diabetes Syndrome due to KCNJ11 Mutation Evliyaoglu O, Ercan O, Ataoglu E, Zubarioglu U, Ozcab B, Dagdeviren A, Erdogan H, De Franco E, Ellard S. J Clin Res Pediatr Endocrinol. 2018;10(2):168-174. |
| Small for gestational age | ||
| INS KCNJ11 PTF1A | ||
| c|SUB|G|497|A;RS#:80356618 g|SUB|A|23508363|G g|SUB|A|23508437|G p|SUB|C|166|Y;RS#:80356618 | ||
| Child, Preschool Diabetes Mellitus Epilepsy Females Homo sapiens Infant Male Pancreas Pancreatic Diseases Psychomotor Disorders | ||
| 1 (4.0%) |
28480665 (5426229) |
DEND Syndrome with Heterozygous KCNJ11 Mutation Successfully Treated with Sulfonylurea. Cho JH, Kang E, Lee BH, Kim GH, Choi JH, Yoo HW. J Korean Med Sci. 2017;32(6):1042-1045. |
| Seizure | ||
| c|SUB|G|602|A;RS#:80356624 p|SUB|R|201|H;RS#:80356624 rs80356624 | ||
| Base Sequence Brain DNA Diabetes Mellitus Epilepsy Heterozygote Homo sapiens Hypoglycemic Agents Infant Infant, Newborn Insulin Magnetic Resonance Imaging Male Psychometrics Psychomotor Disorders Sequence Analysis, DNA Single Nucleotide Polymorphism | ||
| 1 (4.0%) |
25678012 |
Successful transition to sulfonylurea in neonatal diabetes, developmental delay, and seizures (DEND syndrome) due to R50P KCNJ11 mutation. Pena-Almazan S. Diabetes Res Clin Pract. 2015;108(1):e18-20. |
| Seizure | ||
| KCNJ11 | ||
| p|SUB|R|50|P;RS#:80356611 | ||
| DNA DNA Mutational Analysis Developmental Disabilities Diabetes Mellitus Homo sapiens Infant, Newborn Male Mutation Seizures Sulfonylurea Compounds Syndrome | ||
| 1 (4.0%) |
20368737 |
Reevaluation of a case of type 1 diabetes mellitus diagnosed before 6 months of age. Jones AG, Hattersley AT. Nat Rev Endocrinol. 2010;6(6):347-51. |
| Diabetes mellitus | ||
| GLUL INS KCNJ11 | ||
| Administration, Oral Amino Acid Substitution Developmental Disabilities Diabetes Mellitus, Insulin-Dependent Dose-Response Relationship, Drug Epilepsy Females Homo sapiens Hypoglycemic Agents Infant Mutation Syndrome | ||
| 1 (4.0%) |
19686306 |
Medical and developmental impact of transition from subcutaneous insulin to oral glyburide in a 15-yr-old boy with neonatal diabetes mellitus and intermediate DEND syndrome: extending the age of KCNJ11 mutation testing in neonatal DM. Mohamadi A, Clark LM, Lipkin PH, Mahone EM, Wodka EL, Plotnick LP. Pediatr Diabetes. 2010;11(3):203-7. |
| Diabetes mellitus | ||
| KCNJ11 | ||
| p|SUB|V|59|M;RS#:80356616 | ||
| Administration, Oral Continuity of Patient Care Developmental Disabilities Diabetes Mellitus, Insulin-Dependent Epilepsy Homo sapiens Hypoglycemic Agents Infant, Newborn Insulin Male Subcutaneous Infusions Syndrome Withholding Treatment | ||
| 1 (4.0%) |
19169493 |
Glibenclamide unresponsiveness in a Brazilian child with permanent neonatal diabetes mellitus and DEND syndrome due to a C166Y mutation in KCNJ11 (Kir6.2) gene. Della Manna T, Battistim C, Radonsky V, Savoldelli RD, Damiani D, Kok F, Pearson ER, Ellard S, Hattersley AT, Reis AF. Arq Bras Endocrinol Metabol. 2008;52(8):1350-5. |
| Hypoglycemia | ||
| KCNJ11 | ||
| p|SUB|C|166|Y;RS#:80356618 | ||
| Brazil Child, Preschool Developmental Disabilities Diabetes Mellitus Epilepsy Females Homo sapiens Hypoglycemic Agents Mutation Syndrome | ||
| 1 (4.0%) |
17890419 |
Infantile spasms as an epileptic feature of DEND syndrome associated with an activating mutation in the potassium adenosine triphosphate (ATP) channel, Kir6.2. Bahi-Buisson N, Eisermann M, Nivot S, Bellanne-Chantelot C, Dulac O, Bach N, Plouin P, Chiron C, de Lonlay P. J Child Neurol. 2007;22(9):1147-50. |
| Diabetes mellitus | ||
| KCNJ11 | ||
| Anticonvulsants Aspiration Pneumonia Brain Chemistry Brain Diseases, Metabolic DNA Mutational Analysis Developmental Disabilities Diabetes Mellitus, Insulin-Dependent Electroencephalography Epilepsy Fatal Outcome Females Genetic Predisposition to Disease Homo sapiens Hypoglycemic Agents Infant Mutation Potassium Channel Blockers Steroids Sulfonylurea Compounds Syndrome West Syndrome |
Total: 19
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0003074 | Hyperglycemia | Obligate (100%) |
| HP:0040217 | Elevated hemoglobin A1c | Very frequent (99-80%) |
| HP:0001250 | Seizures | Frequent (79-30%) |
| HP:0001324 | Muscle weakness | Frequent (79-30%) |
| HP:0008936 | Muscular hypotonia of the trunk | Frequent (79-30%) |
| HP:0011342 | Mild global developmental delay | Frequent (79-30%) |
| HP:0000343 | Long philtrum | Occasional (29-5%) |
| HP:0000463 | Anteverted nares | Occasional (29-5%) |
| HP:0001488 | Bilateral ptosis | Occasional (29-5%) |
| HP:0001944 | Dehydration | Occasional (29-5%) |
| HP:0002013 | Vomiting | Occasional (29-5%) |
| HP:0002521 | Hypsarrhythmia | Occasional (29-5%) |
| HP:0002714 | Downturned corners of mouth | Occasional (29-5%) |
| HP:0003196 | Short nose | Occasional (29-5%) |
| HP:0005487 | Prominent metopic ridge | Occasional (29-5%) |
| HP:0009830 | Peripheral neuropathy | Occasional (29-5%) |
| HP:0009894 | Thickened ears | Occasional (29-5%) |
| HP:0040025 | Clinodactyly of the 4th finger | Occasional (29-5%) |
| HP:0030057 | Autoimmune antibody positivity | Excluded (0%) |
Total: 2
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000819 | Diabetes mellitus | 1 |
| HP:0001250 | Seizures | 1 |