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Heritable pulmonary arterial hypertension
7 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
17q11.2 microduplication syndrome
1 OMIM reference -
1 associated gene
17 signs/symptoms
Heritable pulmonary arterial hypertension
17q11.2 microduplication syndrome

ACVRL1
(UniProt - OMIM)
 NF1
(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)
CAV1
(0.63)
NF1


Citations in the biomedical literature:


Heritable pulmonary arterial hypertension
ACVRL1 BMPR2 CAV1 CBLN2 KCNK3 SMAD9
TBX4
17q11.2 microduplication syndrome
NF1



Heritable pulmonary arterial hypertension
17q11.2 microduplication syndrome

Synonym(s):
- FPAH
- Familial pulmonary arterial hypertension
- Hereditary pulmonary arterial hypertension
Synonym(s):
- Dup(17)(q11.2)
- Grisart-Destrée syndrome
- Trisomy 17q11.2
Classification (Orphanet):
- Rare genetic disease
- Rare respiratory disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic 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: -
Type of inheritance: autosomal dominant
External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
No MeSH references
17q11.2 microduplication syndrome

Very frequent
- Total / partial trisomy / duplication

Frequent
- Alopecia
- Enamel anomaly
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Microcephaly
- Short stature / dwarfism / nanism

Occasional
- Absent / decreased lashes
- Absent / decreased / thin eyebrows
- Bifid tip / cleft nose / supernumerary nose
- Flared / thick ala nasi
- Flat cheek bones / malar hypoplasia
- Long midface
- Macroorchidism / macrotestes
- Nasal septum deviation
- Seizures / epilepsy / absences / spasms / status epilepticus
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Thin / retracted lips


Heritable pulmonary arterial hypertension

(no data available)