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

SIL1
(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)
SIL1
(0.73)
SMAD9


Citations in the biomedical literature:


Marinesco-Sjögren syndrome
SIL1
Heritable pulmonary arterial hypertension
ACVRL1 BMPR2 CAV1 CBLN2 KCNK3 SMAD9
TBX4



Marinesco-Sjögren syndrome
Heritable pulmonary arterial hypertension

Synonym(s):
(no synonyms)

Synonym(s):
- FPAH
- Familial pulmonary arterial hypertension
- Hereditary pulmonary arterial hypertension
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare respiratory disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the circulatory system -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: any age
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
External references:
No OMIM references
No MeSH references
Marinesco-Sjögren syndrome

Very frequent
- Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase
- Ataxia / incoordination / trouble of the equilibrium
- Autosomal recessive inheritance
- Cataract / lens opacification
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Elocution disorders / dysarthria / dysphonia
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Late puberty / hypogonadism / hypogenitalism
- Myopathy
- Short stature / dwarfism / nanism
- Strabismus / squint

Frequent
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Hyperkinesia / dyskinesia
- Hypertonia / spasticity / rigidity / stiffness
- Metacarpal anomalies / Archibald's sign
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Muscle weakness / flaccidity
- Nystagmus
- Pectus carinatum
- Scoliosis
- Short hand / brachydactyly
- Talipes-valgus

Occasional
- Areflexia / hyporeflexia
- Microcephaly
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Peripheral neuropathy


Heritable pulmonary arterial hypertension

(no data available)