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Aceruloplasminemia
1 OMIM reference -
1 associated gene
20 signs/symptoms
PROTEIN INTERACTIONS: 1
Occipital horn syndrome
1 OMIM reference -
1 associated gene
49 signs/symptoms
Aceruloplasminemia
Occipital horn syndrome

CP
(UniProt - OMIM)
 ATP7A
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
CP
(0.52)
ATP7A


Citations in the biomedical literature:


Aceruloplasminemia
CP
Occipital horn syndrome
ATP7A



Aceruloplasminemia
Occipital horn syndrome

Synonym(s):
- Hereditary ceruloplasmin deficiency
Synonym(s):
- EDS IX
- Ehlers-Danlos syndrome type IX
- Ehlers-Danlos syndrome, type 9
- X-linked cutis laxa
Classification (Orphanet):
- Inborn errors of metabolism
- Rare eye disease
- Rare genetic disease
- Rare hematologic disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare abdominal surgical disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare skin disease
- Rare surgical thoracic disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: adulthood
Average age of death: elderly
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: variable
Average age of death: any age
Type of inheritance: x-linked recessive
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C537860
Aceruloplasminemia
Occipital horn syndrome

Very frequent
- Anaemia
- Autosomal recessive inheritance
- Chorea / athetosis / choreoathetosis / choreic syndrome
- Diabetes mellitus
- Hyperferritinemia / iron overload
- Pollakiuria / polyuria / dysuria / anuria / acute urine retention / oliguria
- Retinopathy
- Tremor

Frequent
- Ataxia / incoordination / trouble of the equilibrium
- Dystonia / torticollis / writer's cramp / blepharospasms
- Execution movement disorder / dysmetria / bradykinesia / akinesia / apraxia
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Hypertonia / spasticity / rigidity / stiffness
- Psychic / behavioural troubles
- Psychic / psychomotor regression / dementia / intellectual decline
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia

Occasional
- Elocution disorders / dysarthria / dysphonia
- Heart / cardiac failure
- Hypothyroidy
- Troubles of memory / amnesia / hypermnesia


Very frequent
- Exostoses
- Face / facial anomalies
- Hyperelastic skin / cutaneous hyperlaxity
- Hyperextensible joints / articular hyperlaxity
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intracranial / cerebral calcifications
- Large fontanelle / delayed fontanelle closure
- Skull / cranial anomalies
- X-linked recessive inheritance

Frequent
- Abnormal scarring / cheloids / hypertrophic scars
- Anomalies of nose and olfaction
- Arterial aneurism (excluding aorta)
- Bruisability
- Elbow dislocation
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Hepatitis / icterus / cholestasis
- High vaulted / narrow palate
- Hypothermia
- Hypotonia
- Long philtrum
- Narrow rib cage / thorax
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Pectus carinatum
- Pectus excavatum
- Platyspondyly
- Short hand / brachydactyly
- Synostosis
- Varices / varicous veins / venous insufficiency
- Wrist / carpal anomalies

Occasional
- Bladder / vesical diverticulum
- Clavicle absent / abnormal
- Coarse / thick hair
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Fibula anomaly (excluding short) / absence / agenesis / hypoplasia / fibular ray anomaly
- Flat foot
- Genu valgum
- High forehead
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Humerus anomaly / absence / agenesis / hypoplasia / congenital humerus varus
- Inguinal / inguinoscrotal / crural hernia
- Kyphosis
- Narrow / sloping shoulders
- Osteolysis / osteoclasia / bone destruction / erosions
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Prominent / bat ears
- Recurrent urinary infections
- Scoliosis
- Tibia anomaly (excluding short) / absence / agenesis / hypoplasia / tibial ray anomaly