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Mild hemophilia A
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Refsum disease
2 OMIM references -
2 associated genes
38 signs/symptoms
Mild hemophilia A
Refsum disease

F8
(UniProt - OMIM)
 PEX7
(UniProt - OMIM)
PHYH
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
F8
(0.89)
PHYH


Citations in the biomedical literature:


Mild hemophilia A
F8
Refsum disease
PEX7 PHYH



Mild hemophilia A
Refsum disease

Synonym(s):
- Mild factor VIII deficiency
Synonym(s):
- HMSN 4
- Hereditary motor and sensory neuropathy type 4
- Heredopathia atactica polyneuritiformis
- Phytanic acid oxidase deficiency
Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare skin disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: x-linked recessive
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
No OMIM references
No MeSH references
External references:
2 OMIM references -
1 MeSH reference: D012035
Refsum disease

Very frequent
- Anomalies of ear and hearing
- Anomalies of eyes and vision
- Anosmia / cacosmia / hypogeusia / hyposmia / olfactory bulb hypoplasia
- Ataxia / incoordination / trouble of the equilibrium
- Cardiomyopathy / hypertrophic / dilated
- Cataract / lens opacification
- Dry / squaly skin / exfoliation
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Foot anomalies
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Ichthyosis / ichthyosiform dermatitis
- Metabolic anomalies
- Peripheral neuropathy
- Pyramidal syndrome
- Retinitis pigmentosa / retinal pigmentary changes
- Retinopathy
- Sensorineural deafness / hearing loss
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia

Frequent
- Abnormal eye movements / oculomotor disorder
- Claw toes / retracted toes
- Epiphyseal anomaly
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Metacarpal anomalies / Archibald's sign
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Psychic / psychomotor regression / dementia / intellectual decline
- Ptosis
- Pupillary anomalies / mydriasis / myosis / tonic pupil
- Splenomegaly
- Storage liver disease

Occasional
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Autosomal recessive inheritance
- Cardiac conduction defect / sinoauricular / heart / auriculoventricular / branch block
- Nystagmus
- Pes cavus
- Renal failure
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Visual loss / blindness / amblyopia


Mild hemophilia A

(no data available)