Maturity-onset diabetes of the young, type 14

General Information (adopted from Orphanet):

Synonyms, Signs: MODY14
Number of Symptoms 2
OrphanetNr:
OMIM Id: 616511
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 families - PMID: 26073777 [IBIS]
Inheritance: Autosomal dominant
Monogenic
- PMID: 26073777 [IBIS]
Age of onset: Adult
- PMID: 26073777 [IBIS]

Disease classification (adopted from Orphanet):

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

Comment:

The study reports two loss-of-function mutations (c.1655T>A [p.Leu552*] and c.280G>A [p.Asp94Asn]) in the gene for the Adaptor Protein, Phosphotyrosine Interaction, PH domain, and leucine zipper containing 1 (APPL1) that were identified by means of whole-exome sequencing in two large families with a high prevalence of diabetes not due to mutations in known genes involved in maturity onset diabetes of the young (MODY). APPL1 binds to AKT2, a key molecule in the insulin signaling pathway, thereby enhancing insulin-induced AKT2 activation and downstream signaling leading to insulin action and secretion. Both mutations cause APPL1 loss of function (PMID:26073777).

Symptom Information: Sort by abundance 

1
(HPO:0004904) Maturity-onset diabetes of the young 26073777 IBIS 17 / 7739
2
(HPO:0005978) Type II diabetes mellitus 26073777 IBIS 68 / 7739

Associated genes:

APPL1;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: