Diabetes mellitus, ketosis-prone

Preferred Label : Diabetes mellitus, ketosis-prone;

Symbol : KPD;

CISMeF acronym : KPD;

Type : Phenotype, molecular basis known;

Description : In addition to classic type 1 (see 222100) and type 2 (see 125853) diabetes mellitus, atypical presentations are seen, particularly in populations of African ancestry. Ketosis-prone diabetes, the most common atypical form, is characterized by an acute initial presentation with severe hyperglycemia and ketosis, as seen in classic type 1 diabetes, but after initiation of insulin therapy, prolonged remission is often possible with cessation of insulin therapy and maintenance of appropriate metabolic control. Metabolic studies show a markedly blunted insulin secretory response to glucose, partially reversible with the improvement of blood glucose control. Variable levels of insulin resistance are observed, especially in obese patients. Pancreatic beta-cell autoimmunity is a rare finding, and association with type 1 susceptibility HLA alleles is variable (Sobngwi et al., 2002).;

Inheritance : Autosomal recessive; Autosomal dominant (in 1 patient);

Molecular basis : Susceptibility conferred by mutation in the paired box gene 4 (PAX4, 167413.0022);

Prefixed ID : #612227;

Details

Origin ID

612227;

UMLS CUI

C3837958;

Automatic exact mappings (from CISMeF team)
- Juvenile diabetes [MedDRA LLT]
- Ketosis-prone diabetes mellitus [MedDRA Preferred Term]
- Ketosis-prone diabetes mellitus [MedDRA LLT]
- Ketosis-prone diabetes mellitus (disorder) [SNOMED CT concept]
- diabetes mellitus, type 1 [MeSH Descriptor]
- diabetes mellitus, type 1 [MeSH concept]
- diabetic ketoacidosis [DO Concept]
- insulin-dependent diabetes mellitus [Artificial nutrition thesaurus concept]
CISMeF manual mappings
- Diabetes Mellitus, Ketosis-Prone [MeSH concept]
DO Cross reference
- diabetic ketoacidosis [DO Concept]
False automatic mappings
- KPD Regimen [NCIt concept]
Genes related to phenotype
- Paired box gene 4 [OMIM gene]
HPO term(s)
- Autoimmunity [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Beta-cell dysfunction [HPO term]
- Diabetes mellitus [HPO term]
- Insulin resistance [HPO term]
- Ketoacidosis [HPO term]
- Multifactorial inheritance [HPO term]
See also inter- (CISMeF)
- diabetes type 1 [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Diabetes mellitus insulin-dependent [MedDRA LLT]
- Diabetes mellitus juvenile onset [MedDRA LLT]
- Diabetes mellitus type 1 [ORDO Disease]
- Diabetes mellitus type 1 [PASCAL descriptor]
- Diabetes mellitus type 1 (disorder) [SNOMED CT concept]
- IDDM [MedDRA LLT]
- Insulin dependent diabetes mellitus [LOINC component]
- Insulin dependent diabetic [MedDRA LLT]
- Insulin-dependent diabetes mellitus [ICD-10 category (who)]
- Insulin-dependent diabetes mellitus [MedDRA LLT]
- Juvenile diabetes [MedDRA LLT]
- Ketosis-prone diabetes mellitus [MedDRA LLT]
- Ketosis-prone diabetes mellitus [MedDRA Preferred Term]
- Ketosis-prone diabetes mellitus (disorder) [SNOMED CT concept]
- Rare diabetes mellitus type 1 [ORDO Disease]
- Type 1 Diabetes Mellitus [NCIt concept]
- Type 1 diabetes mellitus [MedDRA Preferred Term]
- Type 1 diabetes mellitus [ICD-10 category]
- Type I diabetes mellitus [MedDRA LLT]
- Type I diabetes mellitus [HPO term]
- diabetes insulin dependent [ICPC-2 Rubric]
- diabetes mellitus, type 1 [MeSH Descriptor]
- diabetes mellitus, type 1 [MeSH concept]
- diabetes type 1 [MedlinePlus Topic]
- diabetes type 1 [Disease (Nov.)]
- insulin dependent diabetes mellitus [SNOMED Notion]
- type 1 diabetes mellitus [DO Concept]
- type 1 diabetes mellitus prevention [Disease (Nov.)]

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