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Osteoporosis - pseudoglioma
1 OMIM reference -
1 associated gene
21 signs/symptoms
PROTEIN INTERACTIONS: 1
Heritable pulmonary arterial hypertension
7 associated genes
No signs/symptoms info
Osteoporosis - pseudoglioma
Heritable pulmonary arterial hypertension

LRP5
(UniProt - OMIM)
 ACVRL1
(UniProt - OMIM)
BMPR2
(UniProt - OMIM)
CAV1
(UniProt - OMIM)
CBLN2
(UniProt - OMIM)
KCNK3
(UniProt - OMIM)
SMAD9
(UniProt - OMIM)
TBX4
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
LRP5
(0.63)
SMAD9


Citations in the biomedical literature:


Osteoporosis - pseudoglioma
LRP5
Heritable pulmonary arterial hypertension
ACVRL1 BMPR2 CAV1 CBLN2 KCNK3 SMAD9
TBX4



Osteoporosis - pseudoglioma
Heritable pulmonary arterial hypertension

Synonym(s):
- OPPG
- Ocular form of osteogenesis imperfecta
Synonym(s):
- FPAH
- Familial pulmonary arterial hypertension
- Hereditary pulmonary arterial hypertension
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare respiratory disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the circulatory system -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: any age
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: C536063
External references:
No OMIM references
No MeSH references
Osteoporosis - pseudoglioma

Very frequent
- Abnormal vertebral size / shape
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Autosomal recessive inheritance
- Bowed diaphysis / diaphyses / long bones
- Cataract / lens opacification
- Delayed bone age
- Hyperextensible joints / articular hyperlaxity
- Hypotonia
- Mutiple fractures / bone fragility
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Visual loss / blindness / amblyopia

Frequent
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Pupillary anomalies / mydriasis / myosis / tonic pupil
- Short stature / dwarfism / nanism

Occasional
- Depressed nasal bridge
- Generalized obesity
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Kyphosis
- Low hair line (back)
- Micrognathia / retrognathia / micrognathism / retrognathism
- Optic nerve anomaly / optic atrophy / anomaly of the papilla


Heritable pulmonary arterial hypertension

(no data available)