| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (31.0%) |
28663160 (5785646) |
A Mutation in INSR in a Child Presenting with Severe Acanthosis Nigricans. Tuhan H, Ceylaner S, Nalbantoglu O, Acar S, Abac A, Bober E, Demir K. J Clin Res Pediatr Endocrinol. 2017;9(4):371-374. |
| Insulin resistance Polydactyly | ||
| INS INSR | ||
| c|SUB|G|3529+5|A;RS#:764083259 | ||
| Acanthosis Nigricans CD Antigens Child, Preschool Donohue Syndrome Females Homo sapiens Insulin Receptor Missense Mutation Severity of Illness Index | ||
| 2 (26.3%) |
18717867 |
Rabson-Mendenhall syndrome. Parveen BA, Sindhuja R. Int J Dermatol. 2008;47(8):839-41. |
| Coarse facial features | ||
| Acanthosis Nigricans Child, Preschool Diabetes Mellitus Growth Disorders Health Risk Assessment Hirsutism Homo sapiens Immunohistochemistry Insulin Resistance Intellectual Disability Male Rare Diseases Syndrome | ||
| 2 (26.3%) |
18405695 |
Fibroepithelial papillomatosis ("skin tags") in Rabson-Mendenhall syndrome. Kirby EJ, Beals DA. J Pediatr Surg. 2008;43(4):e21-6. |
| Coarse facial features | ||
| INSR | ||
| Acanthosis Nigricans Child Facies Homo sapiens Male Nails, Malformed Papilloma Repeat Surgery Skin Neoplasms Syndrome | ||
| 2 (26.3%) |
15738613 |
Rabson-Mendenhall syndrome. Kumar S, Tullu MS, Muranjan MN, Kamat JR. Indian J Med Sci. 2005;59(2):70-3. |
| Coarse facial features | ||
| Acanthosis Nigricans Diabetes Mellitus Diabetic Ketoacidosis Failure to Thrive Females Growth Disorders Hirsutism Homo sapiens Infant Insulin Resistance Odontodysplasia Syndrome | ||
| 5 (17.5%) |
25027621 |
[Severe type A insulin resistance syndrome due to a mutation in the insulin receptor gene]. Ros P, Colino-Alcol E, Grasso V, Barbetti F, Argente J. An Pediatr (Barc). 2015;82(1):e30-4. |
| Hyperinsulinemia Lipodystrophy | ||
| INSR | ||
| Child Diabetes Mellitus Females Homo sapiens Insulin Insulin Receptor Insulin Resistance Mutation Phenotype Severity of Illness Index Syndrome | ||
| 5 (17.5%) |
15070911 |
Efficacy of recombinant methionyl human leptin therapy for the extreme insulin resistance of the Rabson-Mendenhall syndrome. Cochran E, Young JR, Sebring N, DePaoli A, Oral EA, Gorden P. J Clin Endocrinol Metab. 2004;89(4):1548-54. |
| Insulin resistance Lipodystrophy | ||
| INSR | ||
| Adolescent Development Blood Glucose Child Child Development Fasting Females Growth Homo sapiens Hypothalamo-Hypophyseal System Insulin Insulin Resistance Male Pilot Projects Syndrome | ||
| 5 (17.5%) |
8314008 |
Molecular scanning of the insulin receptor gene in syndromes of insulin resistance. Krook A, Kumar S, Laing I, Boulton AJ, Wass JA, O'Rahilly S. Diabetes. 1994;43(3):357-68. |
| Polycystic ovaries Lipoatrophy | ||
| INSR | ||
| p|SUB|P|1178|L p|SUB|R|1351|Q p|SUB|S|323|L p|SUB|V|985|M | ||
| Adult Base Sequence Child Child, Preschool DNA DNA, Single-Stranded Exons Females Genetic Polymorphism Homo sapiens Infant Infant, Newborn Insulin Receptor Insulin Resistance Male Molecular Sequence Data Mutation Nucleic Acid Conformation Syndrome | ||
| 8 (4.0%) |
29082893 (5985390) |
One Novel 2.43Kb Deletion and One Single Nucleotide Mutation of the INSR Gene in a Chinese Neonate with Rabson-Mendenhall Syndrome Chen X, Wang H, Wu B, Dong X, Liu B, Chen H, Lu Y, Zhou W, Yang L. J Clin Res Pediatr Endocrinol. 2018;10(2):183-187. |
| Hyperinsulinemia | ||
| c|SUB|C|3355|T p|SUB|R|1119|W | ||
| CD Antigens China Donohue Syndrome Homo sapiens Infant, Newborn Insulin Receptor Male Mutation | ||
| 8 (4.0%) |
27891155 (5114824) |
Rabson Mendenhall Syndrome caused by a novel missense mutation. Sinnarajah K, Dayasiri MB, Dissanayake ND, Kudagammana ST, Jayaweera AH. Int J Pediatr Endocrinol. 2016;2016:21. |
| Polyuria | ||
| INS INSR | ||
| 8 (4.0%) |
27326825 |
Identification of a Novel Homozygous INSR Variant in a Patient with Rabson-Mendenhall Syndrome from the United Arab Emirates. Bastaki F, Nair P, Mohamed M, Khadora MM, Saif F, Tawfiq N, Al-Ali MT, Hamzeh AR. Horm Res Paediatr. 2017;87(1):64-68. |
| Abnormal glucose homeostasis | ||
| INSR | ||
| c|SUB|C|421|T p|SUB|R|141|W | ||
| Adult Amino Acid Substitution CD Antigens Child, Preschool Donohue Syndrome Family Females Homo sapiens Homozygote Insulin Receptor Male Missense Mutation United Arab Emirates |
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 |