Cytoscape Web
Click node...


11 OMIM references -
12 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
26 signs/symptoms
MODY syndrome
Renal cysts and diabetes syndrome

ABCC8 HNF1B
BLK
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

Renal cysts and diabetes syndrome
HNF1B



MODY syndrome
Renal cysts and diabetes syndrome

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

Synonym(s):
- MODY5
- RCAD syndrome
- Renal cysts - maturity-onset diabetes of the young
- Renal dysfunction - early-onset diabetes

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

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

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

Renal cysts and diabetes syndrome

Very frequent
- Multicystic kidney / renal dysplasia
- Renal disease / nephropathy

Frequent
- Autosomal dominant inheritance
- Diabetes mellitus

Occasional
- Abnormal hepatic enzymes / transaminases
- Agenesis / hypoplasia / aplasia of kidneys
- Anomaly of pancreatic hormones
- Arthritis / synovitis / synovial proliferation
- Congenital absence / agenesis / aplasia / hypoplasia of the pancreas
- Ectopic / horseshoe / fused kidneys
- Gastric / pyloric stenosis
- Hearing loss / hypoacusia / deafness
- Hepatitis / icterus / cholestasis
- Hyperextensible joints / articular hyperlaxity
- Hyperuricemia
- Hypospadias / epispadias / bent penis
- Hypothyroidy
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Liver / hepatic steatosis
- Male internal genitalia anomaly / deferent ducts agenesis / ectopy / duplication
- Pancreatic failure / exocrine pancreas disease
- Pollakiuria / polyuria / dysuria / anuria / acute urine retention / oliguria
- Prognathism / prognathia
- Spermatocele / epididymal / funicular / spermatic / vaginal / albugineal cyst
- Thirst
- Uterine / uterus / Fallopian tubes anomalies


MODY syndrome

(no data available)