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20p12.3 microdeletion syndrome
1 associated gene
24 signs/symptoms
PROTEIN INTERACTIONS: 1
Heritable pulmonary arterial hypertension
7 associated genes
No signs/symptoms info
20p12.3 microdeletion syndrome
Heritable pulmonary arterial hypertension

BMP2
(UniProt - OMIM)
 ACVRL1
(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)
BMP2
(0.9)
BMPR2


Citations in the biomedical literature:


20p12.3 microdeletion syndrome
BMP2
Heritable pulmonary arterial hypertension
ACVRL1 BMPR2 CAV1 CBLN2 KCNK3 SMAD9
TBX4



20p12.3 microdeletion syndrome
Heritable pulmonary arterial hypertension

Synonym(s):
- Del(20)(p12.3)
- Monosomy 20p12.3
Synonym(s):
- FPAH
- Familial pulmonary arterial hypertension
- Hereditary pulmonary arterial hypertension
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare respiratory disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the circulatory system -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: sporadic
Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: any age
Type of inheritance: autosomal dominant
External references:
No OMIM references
No MeSH references
External references:
No OMIM references
No MeSH references
20p12.3 microdeletion syndrome

Very frequent
- Hypertelorism
- Insterstitial / subtelomeric microdeletion / deletion
- Intellectual deficit / mental / psychomotor retardation / learning disability

Frequent
- Cardiac conduction defect / sinoauricular / heart / auriculoventricular / branch block
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Epicanthic folds
- Flat cheek bones / malar hypoplasia
- Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Microstomia / little mouth
- Short stature / dwarfism / nanism

Occasional
- Atrial septal defect / interauricular communication
- Broad cheeks / cherub-like / cherubin face
- Broad nasal root
- Broad nose / nasal bridge
- Broad / bifid big toe
- Broad / bifid thumb
- Dilated cerebral ventricles without hydrocephaly
- Helix thickened / sculpted
- Hypotonia
- Long philtrum
- Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia
- Pectus carinatum
- Seizures / epilepsy / absences / spasms / status epilepticus


Heritable pulmonary arterial hypertension

(no data available)