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PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
12 signs/symptoms
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
Kennedy disease

BTK AR
ELF4


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
BTK ELF4
Kennedy disease
AR



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

Synonym(s):
(no synonyms)

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

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

Epidemiological data:
Class of prevalence: -
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: x-linked recessive
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:
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)