ORPHA:552

MODY

Synonyms: Maturity-onset diabetes of the young

Type: Disease
Group: Disorder
Inheritance: Autosomal dominant, Not applicable
Age of onset: Adolescent, Adult, Childhood
Status: active

MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	MODY	Maturity-onset diabetes of the young
fr	MODY	Diabète juvénile
de	MODY
es	MODY	Diabetes de la edad madura que se presenta en el joven · Diabetes del adulto de inicio juvenil · Diabetes del adulto joven
it	MODY	Diabete giovanile a esordio nella maturità
nl	MODY	Ouderdomsdiabetes op jonge leeftijd
pt	Síndrome MODY	Diabetes juvenil com início tardio
pl	MODY	Cukrzyca typu MODY
cs	MODY	Diabetes dospělého typu objevující se u mladých lidí
uk	МОDY	Цукровий діабет у молодих людей, що починається в зрілому віці
zh	青少年成人起病型糖尿病	年轻的成年发病型糖尿病
tr	MODY	Gençlerin erişkin-başlangıçlı diyabeti

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	125850	BTNT		validated
OMIM	125851	BTNT		validated
OMIM	600496	BTNT		validated
OMIM	606392	BTNT		validated
OMIM	606394	BTNT		validated
OMIM	609812	BTNT		validated
OMIM	610508	BTNT		validated
OMIM	612225	BTNT		validated
OMIM	613370	BTNT		validated
OMIM	613375	BTNT		validated
OMIM	616329	BTNT		validated
OMIM	616511	BTNT		validated
ICD-10	E13.9	NTBT	attributed	validated
ICD-11	5A13.6	NTBT	index	validated
MONDO	0018911	E		validated
MeSH	C562772	E		validated
UMLS	C0342276	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:97978Rare endocrine disease

Parents in the classifications (2):

ORPHA:181376Rare diabetes mellitus type 2
rare endocrine diseases
ORPHA:183625Rare genetic diabetes mellitus
rare genetic diseases

No children.

Genes

13 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
APPL1	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:24035	ENSG00000157500	604299	3p14.3	adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1	26073777[PMID]
ABCC8	Disease-causing germline mutation(s) in	Assessed	HGNC:59	ENSG00000006071	600509	11p15.1	ATP binding cassette subfamily C member 8	21989597[PMID]
BLK	Disease-causing germline mutation(s) in	Assessed	HGNC:1057	ENSG00000136573	191305	8p23.1	BLK proto-oncogene, Src family tyrosine kinase	19667185[PMID]
CEL	Disease-causing germline mutation(s) in	Assessed	HGNC:1848	ENSG00000170835	114840	9q34.13	carboxyl ester lipase	21844708[PMID]
GCK	Disease-causing germline mutation(s) in	Assessed	HGNC:4195	ENSG00000106633	138079	7p13	glucokinase	21844708[PMID]_22498247[PMID]
HNF1A	Disease-causing germline mutation(s) in	Assessed	HGNC:11621	ENSG00000135100	142410	12q24.31	HNF1 homeobox A	21844708[PMID]_22498247[PMID]
HNF4A	Disease-causing germline mutation(s) in	Assessed	HGNC:5024	ENSG00000101076	600281	20q13.12	hepatocyte nuclear factor 4 alpha	21844708[PMID]_22498247[PMID]
INS	Disease-causing germline mutation(s) in	Assessed	HGNC:6081	ENSG00000254647	176730	11p15.5	insulin	22498247[PMID]
KCNJ11	Disease-causing germline mutation(s) in	Assessed	HGNC:6257	ENSG00000187486	600937	11p15.1	potassium inwardly rectifying channel subfamily J member 11	22701567[PMID]
KLF11	Disease-causing germline mutation(s) in	Assessed	HGNC:11811	ENSG00000172059	603301	2p25.1	KLF transcription factor 11	21844708[PMID]
NEUROD1	Disease-causing germline mutation(s) in	Assessed	HGNC:7762	ENSG00000162992	601724	2q31.3	neuronal differentiation 1	21844708[PMID]_22498247[PMID]
PAX4	Disease-causing germline mutation(s) in	Assessed	HGNC:8618	ENSG00000106331	167413	7q32.1	paired box 4	17426099[PMID]_21263211[PMID]_22521316[PMID]_25041077[PMID]
PDX1	Disease-causing germline mutation(s) in	Assessed	HGNC:6107	ENSG00000139515	600733	13q12.2	pancreatic and duodenal homeobox 1	21844708[PMID]_22498247[PMID]

Prevalence and incidence

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	1-5 / 10 000	—	Europe	Class only	Validated	ORPHANET
Point prevalence	1-5 / 10 000	10 / 100 000	United Kingdom	Value and class	Validated	20499044[PMID]

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

HPO phenotypes

27 annotations · validated 2019-05-02

HPO	Term (as annotated by Orphanet)	Diagnostic
Frequent (79-30%)
HP:0030794	Abnormal C-peptide level
HP:0040214	Abnormal circulating insulin concentration
HP:0004924	Abnormal oral glucose tolerance
HP:0040217	Elevated hemoglobin A1c
HP:0001952	Glucose intolerance
HP:0003076	Glycosuria
HP:0003074	Hyperglycemia
HP:0040216	Hypoinsulinemia
Occasional (29-5%)
HP:0000825	Hyperinsulinemic hypoglycemia
HP:0000831	Insulin-resistant diabetes mellitus
HP:0001511	Intrauterine growth retardation
HP:0001520	Large for gestational age
HP:0001998	Neonatal hypoglycemia
HP:0000112	Nephropathy
HP:0025502	Overweight
HP:0000488	Retinopathy
HP:0008255	Transient neonatal diabetes mellitus
Very rare (<4-1%)
HP:0000119	Abnormality of the genitourinary system
HP:0000077	Abnormality of the kidney
HP:0001738	Exocrine pancreatic insufficiency
HP:0012028	Hepatocellular adenoma
HP:0001513	Obesity
HP:0002594	Pancreatic hypoplasia
HP:0000107	Renal cyst
Excluded (0%)
HP:0000956	Acanthosis nigricans
HP:0030057	Autoimmune antibody positivity
HP:0001953	Diabetic ketoacidosis

Annotation source: 15784703[PMID]_22701567[PMID]_16369531[PMID]_4212169[PMID]_11575290[PMID]_29792621[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/552
This record as JSON: /data/d/552.json