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Cabezas syndrome
1 OMIM reference -
1 associated gene
23 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3
Kennedy disease
1 OMIM reference -
1 associated gene
12 signs/symptoms
Cabezas syndrome
Kennedy disease

CUL4B
(UniProt - OMIM)
 AR
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
CUL4B
(0.52)
AR


Citations in the biomedical literature:


Cabezas syndrome
CUL4B
Kennedy disease
AR



Cabezas syndrome
Kennedy disease

Synonym(s):
- X-linked intellectual deficit, Cabezas type
Synonym(s):
- Bulbospinal muscular atrophy
- SBMA
- Spinal and bulbar muscular atrophy
- Spinobulbar muscular atrophy
- X-linked bulbospinal amyotrophy
Classification (Orphanet):
- 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: childhood
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
COMMON
SIGNS 		- Abnormal gait
- Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia

Cabezas syndrome
Kennedy disease

Very frequent
- Inguinal / inguinoscrotal / crural hernia
- Intellectual deficit / mental / psychomotor retardation / learning disability

Frequent
- Blepharophimosis / short palpebral fissures
- Everted lower lip
- Generalized obesity
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Pes cavus
- Seizures / epilepsy / absences / spasms / status epilepticus
- Short foot / brachydactyly of toes
- Short stature / dwarfism / nanism
- Tremor
- Wasted (excluding lipodystrophy) / poorly muscled build / cachexy
- Wide space between 1st-2nd toes

Occasional
- Acanthosis nigricans
- Hyperextensible joints / articular hyperlaxity
- Hyperhidrosis / increased sweating
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Kyphosis
- Late puberty / hypogonadism / hypogenitalism
- Syndactyly of toes


Very frequent
- Areflexia / hyporeflexia
- Gynecomastia / breast / mammary gland enlargement / hyperplasia
- Hypotonia
- Impotence / painful erection / priapism / erection troubles
- Movement disorder
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- X-linked recessive inheritance

Occasional
- Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia
- Insulin-independent / type 2 diabetes