ODCs

Click node...

1 OMIM reference -
1 associated gene
12 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
2 associated genes
No signs/symptoms info

Kennedy disease

Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia

AR	(UniProt - OMIM)		BTK	(UniProt - OMIM)
			ELF4	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	AR	(0.72)	BTK

Citations in the biomedical literature:

Kennedy disease		Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
	Synonym(s): - Bulbospinal muscular atrophy - SBMA - Spinal and bulbar muscular atrophy - Spinobulbar muscular atrophy - X-linked bulbospinal amyotrophy		Synonym(s): (no synonyms)

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

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

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

	External references: 1 OMIM reference - 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
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
(no data available)