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Heritable pulmonary arterial hypertension
7 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Keratoderma hereditarium mutilans
1 OMIM reference -
1 associated gene
17 signs/symptoms
Heritable pulmonary arterial hypertension
Keratoderma hereditarium mutilans

ACVRL1
(UniProt - OMIM)
 GJB2
(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
(0.84)
GJB2


Citations in the biomedical literature:


Heritable pulmonary arterial hypertension
ACVRL1 BMPR2 CAV1 CBLN2 KCNK3 SMAD9
TBX4
Keratoderma hereditarium mutilans
GJB2



Heritable pulmonary arterial hypertension
Keratoderma hereditarium mutilans

Synonym(s):
- FPAH
- Familial pulmonary arterial hypertension
- Hereditary pulmonary arterial hypertension
Synonym(s):
- Mutilating keratoderma of Vohwinkel
- Mutilating keratoderma plus deafness
- PPK mutilans and deafness
- Vohwinkel syndrome
Classification (Orphanet):
- Rare genetic disease
- Rare respiratory disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare otorhinolaryngologic disease
- Rare skin 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: -
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
Keratoderma hereditarium mutilans

Very frequent
- Anomalies of cartilages, joints and periarticular tissue
- Autosomal dominant inheritance
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Palmoplantar hyperkeratosis / keratoderma
- Sensorineural deafness / hearing loss

Frequent
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Late puberty / hypogonadism / hypogenitalism

Occasional
- Alopecia
- Anomalies of spine, vertebrae and pelvis
- Auto-aggressivity / auto-mutilation
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Dysplastic / thick / grooved toenails
- Follicular / erythematous / edematous papules / milium
- Hearing loss / hypoacusia / deafness
- Ichthyosis / ichthyosiform dermatitis
- Nails anomalies
- Osteolysis / osteoclasia / bone destruction / erosions


Heritable pulmonary arterial hypertension

(no data available)