Maturity-onset diabetes of the young, type 10

General Information (adopted from Orphanet):

Synonyms, Signs: MODY10
Number of Symptoms 3
OrphanetNr:
OMIM Id: 613370
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
23869298 [IBIS]
Age of onset: Adolescent
Adult
23869298 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: MODY syndrome
 -Rare endocrine disease
 -Rare genetic disease

Comment:

Caused by heterozygous mutation in the INS gene (OMIM).

Symptom Information: Sort by abundance 

1
(HPO:0005978) Type II diabetes mellitus Very frequent [IBIS] 18162506; 23869298 IBIS 68 / 7739
2
(HPO:0004904) Maturity-onset diabetes of the young Very frequent [IBIS] 23878349; 18162506; 18192540; 23869298 IBIS 17 / 7739
3
(HPO:0001518) Small for gestational age 18162506 IBIS 107 / 7739

Associated genes:

INS;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Edghill et al. (2008) described a family with MODY who carried a heterozygous mutation in the INS gene. The proband, her mother, and her maternal grandmother were diagnosed with diabetes at 15, 15, and 65 years of age, ...
Molecular genetics OMIM Edghill et al. (2008) screened the INS gene in 296 probands with maturity-onset diabetes of the young (MODY) and identified heterozygosity for a missense mutation in the INS gene (R6C; 176730.0014) in 1 proband that was not found ...