Diabetes mellitus, ketosis-prone

General Information (adopted from Orphanet):

Synonyms, Signs: KPD
Number of Symptoms 6
OrphanetNr:
OMIM Id: 612227
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000831) Insulin-resistant diabetes mellitus 15509590 IBIS 22 / 7739
2
(HPO:0006279) Beta-cell dysfunction 15509590 IBIS 5 / 7739
3
(HPO:0001993) Ketoacidosis 15509590 IBIS 17 / 7739
4
(HPO:0000855) Insulin resistance 15509590 IBIS 32 / 7739
5
(HPO:0002960) Autoimmunity 78 / 7739
6
(OMIM) Autoimmunity to pancreatic beta cells (rare) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Maldonado et al. (2003) studied 103 patients with diabetic ketoacidosis (DKA), classifying them into 4 groups according to the presence or absence of autoimmune markers for type 1 diabetes (A+ or A-) and the presence or absence of ...
Molecular genetics OMIM Mauvais-Jarvis et al. (2004) screened 101 unrelated west African patients with KPD for mutations in the PAX4 gene and identified a variant (R133W; 167413.0002), specific to the population of west African ancestry, which predisposes to KPD under a ...
Population genetics OMIM Sobngwi et al. (2002) reviewed published reports of ketosis-prone atypical diabetes and estimated the prevalence of atypical diabetes to be 0.1 to 0.8% in Africa and 1.2 to 1.6% in the Caribbean. The authors suggested that the prevalence ...