Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities

Preferred Label : Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Rabson-mendenhall syndrome; Mendenhall syndrome;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the insulin receptor gene (INSR, 147670.0012);

Laboratory abnormalities : Postprandial hyperglycemia (early in disease course); Fasting hypoglycemia (early in disease course); Hyperinsulinemia;

Prefixed ID : #262190;

Details

Origin ID

262190;

UMLS CUI

C0271695;

Automatic exact mappings (from CISMeF team)
- donohue syndrome [MeSH Descriptor]
Currated CISMeF NLP mapping
- Pineal hyperplasia AND diabetes mellitus syndrome (disorder) [SNOMED CT concept]
- Rabson-Mendenhall Syndrome [NCIt concept]
- Rabson-Mendenhall syndrome [Disease (Nov.)]
- Rabson-Mendenhall syndrome [ORDO Disease]
- Rabson-Mendenhall syndrome [MeSH concept]
- Rabson-Mendenhall syndrome [ICD-11 More detail]
- pineal hyperplasia and diabetes mellitus syndrome [SNOMED Notion]
Genes related to phenotype
- Insulin receptor [OMIM gene]
HPO term(s)
- Acanthosis nigricans [HPO term]
- Advanced eruption of teeth [HPO term]
- Autosomal recessive inheritance [HPO term]
- Clitoral hypertrophy [HPO term]
- Coarse facial features [HPO term]
- Diabetic ketoacidosis [HPO term]
- Diabetic ketoacidosis [HPO term]
- Dry skin [HPO term]
- Fasting hypoglycemia [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hyperglycemia [HPO term]
- Hyperinsulinemia [HPO term]
- Hypertrichosis [HPO term]
- Hypoglycemia [HPO term]
- Insulin-resistant diabetes mellitus [HPO term]
- Long penis [HPO term]
- Mandibular prognathia [HPO term]
- Onychauxis [HPO term]
- Postprandial hyperglycemia [HPO term]
- Precocious puberty [HPO term]
- Short stature [HPO term]
- Small for gestational age [HPO term]
ORDO concept(s)
- Rabson-Mendenhall syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pineal hyperplasia AND diabetes mellitus syndrome (disorder) [SNOMED CT concept]
- Rabson-Mendenhall Syndrome [NCIt concept]
- Rabson-Mendenhall syndrome [ORDO Disease]
- Rabson-Mendenhall syndrome [MeSH concept]
- Rabson-Mendenhall syndrome [Disease (Nov.)]
- Rabson-Mendenhall syndrome [MedDRA Preferred Term]
- pineal hyperplasia and diabetes mellitus syndrome [SNOMED Notion]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients