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11 OMIM references -
12 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 2
1 OMIM reference -
1 associated gene
12 signs/symptoms
MODY syndrome
Kennedy disease

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


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
BLK
HNF4A
(0.72)
(0.55)
AR
AR



Citations in the biomedical literature:


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

Kennedy disease
AR



MODY syndrome
Kennedy disease

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

Synonym(s):
- Bulbospinal muscular atrophy
- SBMA
- Spinal and bulbar muscular atrophy
- Spinobulbar muscular atrophy
- X-linked bulbospinal amyotrophy

Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare infertility
- Rare neurologic disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: adulthood
Average age of death: normal
Type of inheritance: x-linked recessive

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

Kennedy disease

Very frequent
- Abnormal gait
- Areflexia / hyporeflexia
- Gynecomastia / breast / mammary gland enlargement / hyperplasia
- Hypotonia
- Impotence / painful erection / priapism / erection troubles
- Movement disorder
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- X-linked recessive inheritance

Occasional
- Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia
- Insulin-independent / type 2 diabetes
- Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia


MODY syndrome

(no data available)