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Heritable pulmonary arterial hypertension
7 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
X-linked Charcot-Marie-Tooth disease type 1
1 OMIM reference -
1 associated gene
21 signs/symptoms
Heritable pulmonary arterial hypertension
X-linked Charcot-Marie-Tooth disease type 1

ACVRL1
(UniProt - OMIM)
 GJB1
(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
(0.72)
GJB1


Citations in the biomedical literature:


Heritable pulmonary arterial hypertension
ACVRL1 BMPR2 CAV1 CBLN2 KCNK3 SMAD9
TBX4
X-linked Charcot-Marie-Tooth disease type 1
GJB1



Heritable pulmonary arterial hypertension
X-linked Charcot-Marie-Tooth disease type 1

Synonym(s):
- FPAH
- Familial pulmonary arterial hypertension
- Hereditary pulmonary arterial hypertension
Synonym(s):
- CMT1X
- CMTX1
Classification (Orphanet):
- Rare genetic disease
- Rare respiratory disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
- Rare otorhinolaryngologic disease
Classification (ICD10):
- Diseases of the circulatory system -
Classification (ICD10):
- Diseases of the nervous system -
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: -
Average age onset: childhood
Average age of death: -
Type of inheritance: x-linked dominant
External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C535919
X-linked Charcot-Marie-Tooth disease type 1

Very frequent
- Areflexia / hyporeflexia
- Flat palm
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Muscle weakness / flaccidity
- Nerve conduction abnormality
- Peripheral neuropathy
- Pes cavus
- Sensitive trouble / deficit
- X-linked dominant inheritance

Frequent
- Insensitivity to pain
- Motor deficit / trouble

Occasional
- Abnormal gait
- Ataxia / incoordination / trouble of the equilibrium
- Elocution disorders / dysarthria / dysphonia
- Hearing loss / hypoacusia / deafness
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Kyphosis
- Scoliosis
- Somnolence / hypersomnia / parasomnia
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Tremor


Heritable pulmonary arterial hypertension

(no data available)