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Opsismodysplasia
1 OMIM reference -
1 associated gene
27 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
Kennedy disease
1 OMIM reference -
1 associated gene
12 signs/symptoms
Opsismodysplasia
Kennedy disease

INPPL1
(UniProt - OMIM)
 AR
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
INPPL1
(0.72)
AR


Citations in the biomedical literature:


Opsismodysplasia
INPPL1
Kennedy disease
AR



Opsismodysplasia
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 bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare infertility
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
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 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 -
1 MeSH reference: C537122
External references:
1 OMIM reference -
No MeSH references
COMMON
SIGNS 		- Hypotonia

Opsismodysplasia
Kennedy disease

Very frequent
- Abnormal vertebral size / shape
- Autosomal recessive inheritance
- Delayed bone age
- Depressed nasal bridge
- Epiphyseal anomaly
- Frontal bossing / prominent forehead
- Lack / delayed ossification of spine / vertebrae
- Large fontanelle / delayed fontanelle closure
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Metaphyseal anomaly
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Rhizomelic micromelia
- Short hand / brachydactyly
- Short stature / dwarfism / nanism
- Short / small nose
- Tapered fingers

Frequent
- Brachycephaly / flat occiput
- Repeat respiratory infections

Occasional
- Blue sclerae
- Broad / bifid thumb
- Hepatomegaly / liver enlargement (excluding storage disease)
- Narrow rib cage / thorax
- Pectus excavatum
- Restricted joint mobility / joint stiffness / ankylosis
- Splenomegaly


Very frequent
- Abnormal gait
- Areflexia / hyporeflexia
- Gynecomastia / breast / mammary gland enlargement / hyperplasia
- 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