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Osteosclerosis - developmental delay - craniosynostosis
1 associated gene
17 signs/symptoms
PROTEIN INTERACTIONS: 1
Heritable pulmonary arterial hypertension
7 associated genes
No signs/symptoms info
Osteosclerosis - developmental delay - craniosynostosis
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:


Osteosclerosis - developmental delay - craniosynostosis
LRP5
Heritable pulmonary arterial hypertension
ACVRL1 BMPR2 CAV1 CBLN2 KCNK3 SMAD9
TBX4



Osteosclerosis - developmental delay - craniosynostosis
Heritable pulmonary arterial hypertension

Synonym(s):
(no synonyms)

Synonym(s):
- FPAH
- Familial pulmonary arterial hypertension
- Hereditary pulmonary arterial hypertension
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic 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: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: any age
Type of inheritance: autosomal dominant
External references:
No OMIM references
No MeSH references
External references:
No OMIM references
No MeSH references
Osteosclerosis - developmental delay - craniosynostosis

Very frequent
- Autosomal dominant inheritance
- Brachycephaly / flat occiput
- Broad forehead
- Dense / thickened skull / calvarium / cranial / facial hyperostosis
- Enlargment of jaw / large jaw
- High forehead
- Hypertelorism
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Osteosclerosis / osteopetrosis / bone condensation

Frequent
- Craniostenosis / craniosynostosis / sutural synostosis

Occasional
- Cranial hypertension
- Facial pain / cephalalgia / migraine
- Facial palsy
- Hearing loss / hypoacusia / deafness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Visual loss / blindness / amblyopia


Heritable pulmonary arterial hypertension

(no data available)