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1 associated gene
16 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
1 OMIM reference -
1 associated gene
12 signs/symptoms
X-linked intellectual deficit, Golabi-Ito-Hall type
Kennedy disease

PQBP1 AR


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PQBP1
(0.49)
AR



Citations in the biomedical literature:


X-linked intellectual deficit, Golabi-Ito-Hall type
PQBP1
Kennedy disease
AR



X-linked intellectual deficit, Golabi-Ito-Hall type
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 abdominal surgical disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare infertility
- Rare neurologic disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: normal
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:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
No MeSH references


COMMON
SIGNS
- X-linked recessive inheritance


X-linked intellectual deficit, Golabi-Ito-Hall type
Kennedy disease

Very frequent
- External ear anomalies
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Long face
- Microcephaly
- Narrow face
- Short stature / dwarfism / nanism
- Triangular face
- Upslanted palpebral fissures / mongoloid slanting palpebral fissures

Frequent
- Atrial septal defect / interauricular communication
- Brittle hair / distrix / trichorrhexis
- Epicanthic folds
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Hypertonia / spasticity / rigidity / stiffness

Occasional
- Seizures / epilepsy / absences / spasms / status epilepticus


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

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