PedAM
Pediatric Disease Annotations & Medicines
| rabson-mendenhall syndrome | ||||
| Disease ID | 933 |
|---|---|
| Disease | rabson-mendenhall syndrome |
| Definition | Rare autosomal recessive syndrome, characterized by a milder set of clinical features with prolonged survival, compared to Donohue syndrome. Mutations in the same INSULIN RECEPTOR, mostly in the non-binding domain, result in Rabson-Mendenhall syndrome (allelic heterogeneity). Clinical features include insulin-resistant DIABETES MELLITUS, often with ACANTHOSIS NIGRICANS; DIABETIC KETOACIDOSIS; HYPERTRICHOSIS; and dysmorphisms. |
| Synonym | mendenhall syndrome pineal hyperplasia and diabetes mellitus syndrome pineal hyperplasia and diabetes mellitus syndrome (disorder) pineal hyperplasia, insulin-resistant diabetes mellitus and somatic abnormalities pineal hyperplasia, insulin-resistant diabetes mellitus and somatic abnormalities (disorder) pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities rabson mendenhall syndrome syndrome, mendenhall syndrome, rabson-mendenhall |
| Orphanet | |
| OMIM | |
| UMLS | C0271695 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:2) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:1) INSR | 19p13.2 |
| Disease ID | 933 |
|---|---|
| Disease | rabson-mendenhall syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:42) HP:0002208 | Coarse hair HP:0000845 | Growth hormone excess HP:0000147 | Polycystic ovaries HP:0001953 | Diabetic ketosis HP:0004322 | Stature below 3rd percentile HP:0002230 | Generalized hirsutism HP:0000831 | Insulin-resistant diabetes mellitus HP:0011998 | Postprandial hyperglycemia HP:0003162 | Low blood sugar when fasting HP:0001263 | Developmental retardation HP:0000164 | Abnormality of the teeth HP:0009830 | Peripheral neuropathy HP:0000958 | Xerosis HP:0004322 | Short stature HP:0001156 | Brachydactyly syndrome HP:0007495 | Prematurely aged appearance HP:0000820 | Abnormality of the thyroid gland HP:0012542 | Onychauxis HP:0000819 | Diabetes mellitus HP:0008665 | Clitoromegaly HP:0006288 | Advanced eruption of teeth HP:0001805 | Thick nail HP:0001943 | Hypoglycemia HP:0000280 | Coarse facial features HP:0000842 | Elevated insulin level HP:0000093 | Proteinuria HP:0000956 | Acanthosis nigricans HP:0001072 | Thickened skin HP:0001518 | Small for gestational age HP:0000998 | Hypertrichosis HP:0000958 | Dry skin HP:0000040 | Long penis HP:0001511 | Intrauterine growth retardation HP:0000303 | Mandibular prognathia HP:0010935 | Abnormality of the upper urinary tract HP:0004298 | Abnormality of the abdominal wall HP:0000956 | Keratosis nigricans HP:0000303 | Increased size of lower jaw HP:0010458 | Female pseudohermaphroditism HP:0003074 | High blood glucose HP:0000218 | Increased palatal height HP:0000826 | Precocious puberty |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 933 |
|---|---|
| Disease | rabson-mendenhall syndrome |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
All Snps(Total Genotypes:4) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121913143 | NA | 3643 | INSR | umls:C0271695 | CLINVAR | NA | 0.364071628 | NA | INSR | 19 | 7267871 | G | T |
| rs121913144 | NA | 3643 | INSR | umls:C0271695 | CLINVAR | NA | 0.364071628 | NA | INSR | 19 | 7125462 | G | A |
| rs587776819 | NA | 3643 | INSR | umls:C0271695 | CLINVAR | NA | 0.364071628 | NA | INSR | 19 | 7172436 | T | C |
| rs587776820 | NA | 3643 | INSR | umls:C0271695 | CLINVAR | NA | 0.364071628 | NA | INSR | 19 | 7142871 | GGTGTCCT | - |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
Chemical(Total Drugs:0) | |
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| (Waiting for update.) | |
FDA approved drug and dosage information(Total Drugs:0) | |
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| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
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| (Waiting for update.) | |