| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 8 (4.0%) |
20155514 |
Rabson-Mendenhall syndrome: two case reports and a brief review of the literature. Bathi RJ, Parveen S, Mutalik S, Rao R. Odontology. 2010;98(1):89-96. |
| Insulin resistance | ||
| INS INSR | ||
| Child, Preschool Donohue Syndrome Females Homo sapiens Malocclusion Sibling Tooth Diseases | ||
| 8 (4.0%) |
18411068 |
Two novel mutations in the insulin binding subunit of the insulin receptor gene without insulin binding impairment in a patient with Rabson-Mendenhall syndrome. Thiel CT, Knebel B, Knerr I, Sticht H, Muller-Wieland D, Zenker M, Reis A, Dorr HG, Rauch A. Mol Genet Metab. 2008;94(3):356-62. |
| Hyperglycemia | ||
| INS INSR | ||
| Amino Acid Sequence Base Sequence CD Antigens Cell Nucleus Craniofacial Abnormalities DNA Mutational Analysis Females Growth Disorders Homo sapiens Insulin Insulin Receptor Missense Mutation Models, Molecular Molecular Sequence Data Protein Binding Protein Subunits Sequence Homology, Nucleic Acid Syndrome | ||
| 8 (4.0%) |
17849153 |
Rabson-Mendenhall syndrome: medullary sponge kidney, a new component. Harris AM, Hall B, Kriss VM, Fowlkes JL, Kiessling SG. Pediatr Nephrol. 2007;22(12):2141-4. |
| Nephrocalcinosis | ||
| Child Hematuria Homo sapiens Hypercalciuria Insulin Resistance Kidney Male Nephrocalcinosis Syndrome Urography | ||
| 8 (4.0%) |
17560154 |
Severe deficiencies of IGF-I, IGF-II, IGFBP-3, ALS and paradoxically high-normal bone mass in a child with insulin-resistance syndrome (Rabson-Mendenhall type). Fowlkes JL, Bunn RC, Coleman HN, Hall B, Reid MC, Thrailkill KM. Growth Horm IGF Res. 2007;17(5):399-407. |
| Hyperinsulinemia | ||
| INSR | ||
| Body Height Body Size Body Weight Bone Density Child Child, Preschool DNA Females Homo sapiens Hyperinsulinism Infant Insulin Resistance Insulin-Like Growth Factor Binding Protein 3 Insulin-Like Growth Factor I Male Protein Subunits Syndrome | ||
| 8 (4.0%) |
16127220 |
A nonsense mutation in the Arg345 of the insulin receptor gene in a Japanese type A insulin-resistant patient. Hashiramoto M, Osawa H, Ando M, Murakami A, Nishimiya T, Nakano M, Nishida W, Onuma H, Makino H. Endocr J. 2005;52(4):499-504. |
| Diabetes mellitus | ||
| INSR | ||
| Child Codon, Nonsense Females Hirsutism Homo sapiens Hyperinsulinism Insulin Receptor Insulin Resistance Japan | ||
| 8 (4.0%) |
15232309 |
Clinical course of genetic diseases of the insulin receptor (type A and Rabson-Mendenhall syndromes): a 30-year prospective. Musso C, Cochran E, Moran SA, Skarulis MC, Oral EA, Taylor S, Gorden P. Medicine (Baltimore). 2004;83(4):209-22. |
| Hyperinsulinemia | ||
| INS INSR | ||
| Acanthosis Nigricans Adult Child Females Follow-Up Studies Hirsutism Homo sapiens Hyperandrogenism Insulin Receptor Insulin Resistance Male Mutation Polycystic Ovary Syndrome Syndrome Time Factors | ||
| 8 (4.0%) |
12970295 |
Identification and functional assessment of novel and known insulin receptor mutations in five patients with syndromes of severe insulin resistance. Maassen JA, Tobias ES, Kayserilli H, Tukel T, Yuksel-Apak M, D'Haens E, Kleijer WJ, Fery F, van der Zon GC. J Clin Endocrinol Metab. 2003;88(9):4251-7. |
| Insulin resistance | ||
| INSR | ||
| p|SUB|L|93|Q p|SUB|N|431|D p|SUB|R|1092|W p|SUB|R|252|H p|SUB|S|323|L rs121913160 | ||
| Animals Codon, Nonsense Cultured Cells DNA Females Fibroblasts Hamsters Homo sapiens Hypoglycemic Agents Infant Insulin Insulin Receptor Insulin Resistance Missense Mutation Mutation Phenotype Phosphotyrosine Signal Transduction Western Blotting | ||
| 8 (4.0%) |
9496190 |
Early onset of diabetic nephropathy. Francis J, Rose SJ, Raafat F, Milford DV. Arch Dis Child. 1997;77(6):524-5. |
| Nephropathy | ||
| Albuminuria Child Diabetes Mellitus, Insulin-Dependent Diabetic Nephropathy Females Homo sapiens Kidney | ||
| 8 (4.0%) |
9299395 |
Four mutant alleles of the insulin receptor gene associated with genetic syndromes of extreme insulin resistance. Kadowaki H, Takahashi Y, Ando A, Momomura K, Kaburagi Y, Quin JD, MacCuish AC, Koda N, Fukushima Y, Taylor SI, Akanuma Y, Yazaki Y, Kadowaki T. Biochem Biophys Res Commun. 1997;237(3):516-20. |
| Insulin resistance | ||
| c|SUB|AG||GG p|SUB|T|910|M | ||
| Alternative Splicing Base Sequence Females Growth Disorders Heterozygote Homo sapiens Insulin Receptor Insulin Resistance Introns Lymphocyte Male Mutagenesis, Site-Directed Mutation Point Mutation Recombinant Proteins Sequence Deletion Syndrome Transfection | ||
| 8 (4.0%) |
9212040 |
Major circadian variations of glucose homeostasis in a patient with Rabson-Mendenhall syndrome and primary insulin resistance due to a mutation (Cys284-->Tyr) in the insulin receptor alpha-subunit. Desbois-Mouthon C, Magre J, Duprey J, Caron M, Blivet-Van Eggelpoel MJ, Daubas C, Gourmelen M, Chevallier B, Rizkalla S, Robert JJ, Capeau J. Pediatr Res. 1997;42(1):72-7. |
| Insulin resistance | ||
| IGF1 | ||
| p|SUB|C|284|Y | ||
| Amino Acid Sequence Base Sequence Blood Glucose Child Circadian Rhythms DNA Mutational Analysis Developmental Disabilities Homeostasis Homo sapiens Human Growth Hormone In Vitro Techniques Insulin Insulin Receptor Insulin Resistance Insulin-Like Growth Factor I Male Point Mutation Syndrome |
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 |