ODCs

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Intellectual deficit - sparse hair - brachydactyly

1 OMIM reference -
2 associated genes
37 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Kennedy disease

1 OMIM reference -
1 associated gene
12 signs/symptoms

Intellectual deficit - sparse hair - brachydactyly

Kennedy disease

ARID1B	(UniProt - OMIM)		AR	(UniProt - OMIM)
SMARCA2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SMARCA2	(0.82)	AR

Citations in the biomedical literature:

Intellectual deficit - sparse hair - brachydactyly		Kennedy disease
	Synonym(s): - Nicolaides-Baraitser syndrome		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: neonatal/infancy 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: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia

Intellectual deficit - sparse hair - brachydactyly		Kennedy disease
	Very frequent - Anteverted nares / nostrils - Everted lower lip - Flared / thick ala nasi - High vaulted / narrow palate - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Intellectual deficit / mental / psychomotor retardation / learning disability - Joint / articular deformation - Long philtrum - Macrostomia / big mouth - Microcephaly - Philtrum flat / large / featureless / absent cupidon bows - Short hand / brachydactyly - Thin / retracted lips - Triangular face Frequent - Abnormal implantation of hair - Abnormally placed nipples - Blepharophimosis / short palpebral fissures - Eczema - High arched eyebrows - Long / thick / curved lashes / trichomegaly / polytrichia - Metacarpal anomalies / Archibald's sign - Narrow nasal bridge - Rippled skin - Scoliosis - Seizures / epilepsy / absences / spasms / status epilepticus - Short stature / dwarfism / nanism - Terminal broadening / clubbing of toes - Terminal / third phalangeal bone of fingers broadened / deviated - Undescended / ectopic testes / cryptorchidia / unfixed testes - Wide space between 1st-2nd toes Occasional - Advanced bone age - Congenital cardiac anomaly / malformation / cardiopathy - Delayed bone age - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Epiphyseal anomaly - Herniae		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 - X-linked recessive inheritance Occasional - Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia - Insulin-independent / type 2 diabetes - Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia