| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 8 (4.0%) |
27112737 |
Treatment of Diabetic Ketoacidosis With Intravenous U-500 Insulin in a Patient With Rabson-Mendenhall Syndrome: A Case Report. Moore MM, Bailey AM, Flannery AH, Baum RA. J Pharm Pract. 2017;30(4):468-475. |
| Insulin resistance | ||
| INSR SCARNA14 | ||
| Diabetic Ketoacidosis Donohue Syndrome Homo sapiens Hypoglycemic Agents Insulin Male Young Adult | ||
| 8 (4.0%) |
26438710 |
Case Report: When an Induced Illness Looks Like a Rare Disease. Rabbone I, Galderisi A, Tinti D, Ignaccolo MG, Barbetti F, Cerutti F. Pediatrics. 2015;136(5):e1361-5. |
| Nephrocalcinosis | ||
| INS INSR | ||
| Child, Preschool Differential Diagnosis Donohue Syndrome Homo sapiens Male Munchausen Syndrome by Proxy | ||
| 8 (4.0%) |
24468607 |
Identification of a novel insulin receptor gene heterozygous mutation in a patient with type A insulin resistance syndrome. Dominguez-Garcia A, Martinez R, Urrutia I, Garin I, Castano L. J Pediatr Endocrinol Metab. 2014;27(5-6):561-4. |
| Diabetes mellitus | ||
| INSR | ||
| p|SUB|N|1164|T | ||
| Diabetes Mellitus, Insulin-Dependent Donohue Syndrome Females Heterozygote Homo sapiens Hormones Insulin Receptor Insulin Resistance Missense Mutation | ||
| 8 (4.0%) |
23824322 |
Six cases with severe insulin resistance (SIR) associated with mutations of insulin receptor: Is a Bartter-like syndrome a feature of congenital SIR? Grasso V, Colombo C, Favalli V, Galderisi A, Rabbone I, Gombos S, Bonora E, Massa O, Meschi F, Cerutti F, Iafusco D, Bonfanti R, Monciotti C, Barbetti F. Acta Diabetol. 2013;50(6):951-7. |
| Nephrocalcinosis | ||
| INS INSR | ||
| Acanthosis Nigricans Bartter Disease Child, Preschool Donohue Syndrome Females Homo sapiens Infant Infant, Newborn Insulin Receptor Insulin Resistance Male Mutation Nephrocalcinosis Severity of Illness Index | ||
| 8 (4.0%) |
23497647 (3598197) |
Renal manifestations of severe Rabson-Mendenhall syndrome: a case report. Chong YH, Taylor BJ, Wheeler BJ. J Diabetes Metab Disord. 2013;12(1):7. |
| Hydronephrosis | ||
| INS INSR | ||
| 8 (4.0%) |
23347304 |
Rabson-Mendenhall syndrome with recurrent cerebral infarcts caused by a novel INSR mutation. Mohanan S, Chandrashekar L, Semple RK, Thappa DM, Parameswaran N, Negi VS, Ramassamy S. Int J Dermatol. 2013;52(2):182-5. |
| Insulin resistance | ||
| INSR | ||
| Acanthosis Nigricans Cerebral Infarction Child Clitoris Dentofacial Deformities Donohue Syndrome Females Genes, Recessive Homo sapiens Insulin Receptor Phenotype | ||
| 8 (4.0%) |
23263437 |
Rabson-Mendenhall syndrome. Gupta J, Daniel JM, Vasudevan V. J Indian Soc Pedod Prev Dent. 2012;30(3):279-82. |
| Insulin-resistant diabetes mellitus | ||
| INS INSR | ||
| Child Donohue Syndrome Females Homo sapiens Macroglossia Maxilla Open Bite | ||
| 8 (4.0%) |
22876563 |
A case of Rabson-Mendenhall syndrome with a novel mutation in the tyrosine kinase domain of the insulin receptor gene complicated by medullary sponge kidney. Abe Y, Sato T, Takagi M, Watanabe T, Nagayama Y, Hasegawa T, Abe T. J Pediatr Endocrinol Metab. 2012;25(5-6):587-90. |
| Nephrocalcinosis | ||
| IGF1 INSR | ||
| Donohue Syndrome Homo sapiens Infant, Newborn Insulin Receptor Male Protein Tyrosine Kinase Tertiary Protein Structure | ||
| 8 (4.0%) |
22563226 (3342552) |
Two novel insulin receptor gene mutations in a patient with Rabson-Mendenhall syndrome: the first Korean case confirmed by biochemical, and molecular evidence. Kim D, Cho SY, Yeau SH, Park SW, Sohn YB, Kwon MJ, Kim JY, Ki CS, Jin DK. J Korean Med Sci. 2012;27(5):565-8. |
| Hyperinsulinemia | ||
| INS INSR | ||
| c|SUB|C|90|A c|SUB|G|712|A;RS#:761203947 | ||
| Asians Base Sequence Blood Glucose C-Peptide Codon, Nonsense Donohue Syndrome Heterozygote Homo sapiens Hypoglycemic Agents Infant Insulin Insulin Receptor Male Missense Mutation Sequence Analysis, DNA South Korea | ||
| 8 (4.0%) |
21869538 |
Functional characterization of insulin receptor gene mutations contributing to Rabson-Mendenhall syndrome - phenotypic heterogeneity of insulin receptor gene mutations. Jiang S, Fang Q, Zhang F, Wan H, Zhang R, Wang C, Bao Y, Zhang L, Ma X, Lu J, Gao F, Xiang K, Jia W. Endocr J. 2011;58(11):931-40. |
| Hyperinsulinemia | ||
| AKT1 INSR IRS1 MAPK1 MAPK3 | ||
| p|SUB|A|1028|V p|SUB|R|83|Q | ||
| Amino Acid Sequence Animals Asians Base Sequence Child Donohue Syndrome Females Hamsters Homo sapiens Insulin Insulin Receptor Insulin Resistance Male Molecular Sequence Data RNA Reverse Transcriptase Polymerase Chain Reaction Signal Transduction Single Nucleotide Polymorphism Transfection |
Total: 25
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000040 | Long penis | Very frequent (99-80%) |
| HP:0000164 | Abnormality of the dentition | Very frequent (99-80%) |
| HP:0000280 | Coarse facial features | Very frequent (99-80%) |
| HP:0000303 | Mandibular prognathia | Very frequent (99-80%) |
| HP:0000819 | Diabetes mellitus | Very frequent (99-80%) |
| HP:0000845 | Growth hormone excess | Very frequent (99-80%) |
| HP:0000956 | Acanthosis nigricans | Very frequent (99-80%) |
| HP:0001511 | Intrauterine growth retardation | Very frequent (99-80%) |
| HP:0001805 | Onychogryposis | Very frequent (99-80%) |
| HP:0002230 | Generalized hirsutism | Very frequent (99-80%) |
| HP:0004298 | Abnormality of the abdominal wall | Very frequent (99-80%) |
| HP:0006288 | Advanced eruption of teeth | Very frequent (99-80%) |
| HP:0010458 | Female pseudohermaphroditism | Very frequent (99-80%) |
| HP:0000093 | Proteinuria | Frequent (79-30%) |
| HP:0000820 | Abnormality of the thyroid gland | Frequent (79-30%) |
| HP:0000826 | Precocious puberty | Frequent (79-30%) |
| HP:0000958 | Dry skin | Frequent (79-30%) |
| HP:0001072 | Thickened skin | Frequent (79-30%) |
| HP:0001156 | Brachydactyly | Frequent (79-30%) |
| HP:0002208 | Coarse hair | Frequent (79-30%) |
| HP:0004322 | Short stature | Frequent (79-30%) |
| HP:0007495 | Prematurely aged appearance | Frequent (79-30%) |
| HP:0009830 | Peripheral neuropathy | Frequent (79-30%) |
| HP:0000147 | Polycystic ovaries | Occasional (29-5%) |
| HP:0010935 | Abnormality of the upper urinary tract | Occasional (29-5%) |
Total: 11
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000855 | Insulin resistance | 16 |
| HP:0000842 | Hyperinsulinemia | 5 |
| HP:0001007 | Hirsutism | 2 |
| HP:0000121 | Nephrocalcinosis | 1 |
| HP:0000819 | Diabetes mellitus | 1 |
| HP:0000956 | Acanthosis nigricans | 1 |
| HP:0001943 | Hypoglycemia | 1 |
| HP:0002150 | Hypercalciuria | 1 |
| HP:0003074 | Hyperglycemia | 1 |
| HP:0010609 | Skin tags | 1 |
| HP:0011998 | Postprandial hyperglycemia | 1 |