Donohue syndrome

Preferred Label : Donohue syndrome;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : LEPRECHAUNISM;

Included titles and symbols : Insulin receptor, defect in;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the insulin receptor gene (INSR, 147670.0002);

Neoplasia : Juvenile ovarian granulosa cell tumor;

Laboratory abnormalities : Elevated plasma insulin; Absent anti-insulin receptor antibodies; Postprandial hyperglycemia; Fasting hypoglycemia;

Prefixed ID : #246200;

Détails

Origin ID

246200;

UMLS CUI

C0265344;

Automatic exact mappings (from CISMeF team)
- Donohue syndrome [MedDRA Preferred Term]
- Insulin receptor defect (disorder) [SNOMED CT concept]
- Leprechaunism [ICD-11 More detail]
- Leprechaunism [MedDRA LLT]
- insulin receptor, defect in [MeSH Supplementary Concept]
- insulin receptor, defect in [MeSH concept]
Currated CISMeF NLP mapping
- Donohue Syndrome [NCIt concept]
- Donohue syndrome [DO Concept]
- Leprechaunism [PASCAL descriptor]
- Leprechaunism [ORDO Disease]
- Leprechaunism syndrome (disorder) [SNOMED CT concept]
- donohue syndrome [Disease (Nov.)]
- donohue syndrome [MeSH Descriptor]
- donohue syndrome [MeSH concept]
- leprechaunism syndrome [SNOMED Notion]
DO Cross reference
- Donohue syndrome [DO Concept]
Genes related to phenotype
- Insulin receptor [OMIM gene]
HPO term(s)
- Abdominal distention [HPO term]
- Abnormality of the abdominal wall [HPO term]
- Acanthosis nigricans [HPO term]
- Adipose tissue loss [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cholestasis [HPO term]
- Clitoral hypertrophy [HPO term]
- Delayed skeletal maturation [HPO term]
- Elfin facies [HPO term]
- Fasting hypoglycemia [HPO term]
- Full lips [HPO term]
- Gingival overgrowth [HPO term]
- Hepatic fibrosis [HPO term]
- Hyperglycemia [HPO term]
- Hyperinsulinemia [HPO term]
- Hyperkeratosis [HPO term]
- Hypermelanotic macule [HPO term]
- Hypertrichosis [HPO term]
- Intrauterine growth retardation [HPO term]
- Large hands [HPO term]
- Long foot [HPO term]
- Long penis [HPO term]
- Low-set ears [HPO term]
- Macrotia [HPO term]
- Nail dysplasia [HPO term]
- Ovarian cyst [HPO term]
- Pancreatic islet-cell hyperplasia [HPO term]
- Postnatal growth retardation [HPO term]
- Postprandial hyperglycemia [HPO term]
- Precocious puberty [HPO term]
- Prenatal growth deficiency [HPO term]
- Prominent eyes [HPO term]
- Prominent nipples [HPO term]
- Proptosis [HPO term]
- Recurrent infections [HPO term]
- Severe failure to thrive [HPO term]
- Skeletal muscle atrophy [HPO term]
- Small face [HPO term]
- Thick lower lip vermilion [HPO term]
- Wide mouth [HPO term]
- patches [HPO term]
ORDO concept(s)
- Leprechaunism [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Donohue Syndrome [NCIt concept]
- Donohue syndrome [DO Concept]
- Donohue syndrome [MedDRA Preferred Term]
- Leprechaunism [ORDO Disease]
- Leprechaunism [PASCAL descriptor]
- Leprechaunism [MedDRA LLT]
- Leprechaunism syndrome (disorder) [SNOMED CT concept]
- donohue syndrome [MeSH Descriptor]
- donohue syndrome [MeSH concept]
- donohue syndrome [Disease (Nov.)]
- leprechaunism syndrome [SNOMED Notion]

Position du mot-clé dans l'(les) arborescence(s) :

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