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11 OMIM references -
12 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
2 associated genes
21 signs/symptoms
MODY syndrome
17q12 microdeletion syndrome

ABCC8 HNF1B
BLK LHX1
CEL
GCK
HNF1A
HNF4A
INS
KCNJ11
KLF11
NEUROD1
PAX4
PDX1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
HNF1A
(0.75)
HNF1B



Citations in the biomedical literature:


MODY syndrome
ABCC8 BLK CEL GCK HNF1A HNF4A
INS KCNJ11 KLF11 NEUROD1 PAX4 PDX1

17q12 microdeletion syndrome
HNF1B LHX1



MODY syndrome
17q12 microdeletion syndrome

Synonym(s):
- Maturity-onset diabetes of the young

Synonym(s):
- Del(17)(q12)
- Monosomy 17q12

Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)

External references:
11 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references

17q12 microdeletion syndrome

Very frequent
- Insterstitial / subtelomeric microdeletion / deletion
- Multicystic kidney / renal dysplasia

Frequent
- Diabetes mellitus
- Short stature / dwarfism / nanism

Occasional
- Abnormal hepatic enzymes / transaminases
- Agenesis / hypoplasia / aplasia of kidneys
- Autism / autistic disoders
- Congenital absence / agenesis / aplasia / hypoplasia of the pancreas
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hearing loss / hypoacusia / deafness
- Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Large fontanelle / delayed fontanelle closure
- Oligoamnios
- Renal failure
- Seizures / epilepsy / absences / spasms / status epilepticus
- Shawl scrotum
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Ureterocele / cystic dilation / dilatation of the ureter / ureterovasical stenosis


MODY syndrome

(no data available)