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Heritable pulmonary arterial hypertension
7 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Gorlin syndrome
1 OMIM reference -
1 associated gene
28 signs/symptoms
Heritable pulmonary arterial hypertension
Gorlin syndrome

ACVRL1
(UniProt - OMIM)
 PTCH1
(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)
PTCH1


Citations in the biomedical literature:


Heritable pulmonary arterial hypertension
ACVRL1 BMPR2 CAV1 CBLN2 KCNK3 SMAD9
TBX4
Gorlin syndrome
PTCH1



Heritable pulmonary arterial hypertension
Gorlin syndrome

Synonym(s):
- FPAH
- Familial pulmonary arterial hypertension
- Hereditary pulmonary arterial hypertension
Synonym(s):
- Basal cell nevus syndrome
- NBCCS
- Nevoid basal cell carcinoma syndrome
Classification (Orphanet):
- Rare genetic disease
- Rare respiratory disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic 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: 1-9 / 100 000
Average age onset: adolescence / young
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
Gorlin syndrome

Very frequent
- Autosomal dominant inheritance
- Dermoid sinus / dimple / pit (excluding sacral)
- Intracranial / cerebral calcifications
- Neoplasms / tumors
- Pigmented naevi / naevus pigmentosus / lentigo

Frequent
- Abnormal vertebral size / shape
- Anomalies of the neck
- Broad nasal root
- Scoliosis
- Short hand / brachydactyly

Occasional
- Anosmia / cacosmia / hypogeusia / hyposmia / olfactory bulb hypoplasia
- Brachycephaly / flat occiput
- Cataract / lens opacification
- Coloboma of iris
- Epicanthic folds
- Frontal bossing / prominent forehead
- Glaucoma
- Hydrocephaly
- Hypertelorism
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Late puberty / hypogonadism / hypogenitalism
- Long hand / arachnodactyly
- Multiple caries
- Prognathism / prognathia
- Strabismus / squint
- Telecanthus / canthal dystopy
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Vertebral segmentation anomaly / hemivertebrae


Heritable pulmonary arterial hypertension

(no data available)