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Heritable pulmonary arterial hypertension

7 associated genes
No signs/symptoms info

COMMON GENES: 1

Coxo-podo-patellar syndrome

1 OMIM reference -
1 associated gene
6 signs/symptoms

Heritable pulmonary arterial hypertension

Coxo-podo-patellar syndrome

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


COMMON GENES	TBX4

Citations in the biomedical literature:

Heritable pulmonary arterial hypertension		Coxo-podo-patellar syndrome
	Synonym(s): - FPAH - Familial pulmonary arterial hypertension - Hereditary pulmonary arterial hypertension		Synonym(s): - Ischiopatellar dysplasia - SPS - Scott-Taor syndrome - Small patella syndrome

	Classification (Orphanet): - Rare genetic disease - Rare respiratory disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease

	Classification (ICD10): - Diseases of the circulatory system -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: unknown Average age onset: variable Average age of death: any age Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

	External references: No OMIM references No MeSH references		External references: 1 OMIM reference - No MeSH references

Coxo-podo-patellar syndrome
	Very frequent - Autosomal dominant inheritance - Epiphyseal anomaly - Knee anomalies (excluding patella) - Patella absent / abnormal (excluding luxation) Frequent - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
Heritable pulmonary arterial hypertension
(no data available)