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Aceruloplasminemia
1 OMIM reference -
1 associated gene
20 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4
Menkes disease
1 OMIM reference -
1 associated gene
57 signs/symptoms
Aceruloplasminemia
Menkes disease

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
Menkes disease
ATP7A



Aceruloplasminemia
Menkes disease

Synonym(s):
- Hereditary ceruloplasmin deficiency
Synonym(s):
- Kinky hair disease
- Kinky hair syndrome
- MD
- MK
- MNK
- Menkes syndrome
- Steely hair disease
- Steely hair syndrome
- Trichopoliodystrophy
- X-linked copper deficiency
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 eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare skin 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: unknown
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: x-linked recessive
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
COMMON
SIGNS 		- Chorea / athetosis / choreoathetosis / choreic syndrome
- Hypertonia / spasticity / rigidity / stiffness
- Psychic / behavioural troubles
- Psychic / psychomotor regression / dementia / intellectual decline

Aceruloplasminemia
Menkes disease

Very frequent
- Anaemia
- Autosomal recessive inheritance
- 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
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia

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


Very frequent
- Absent / hypotonic / flaccid abdominal wall muscles
- Arterial aneurism (excluding aorta)
- Asthenia / fatigue / weakness
- Broad cheeks / cherub-like / cherubin face
- Decreased hair pigmentation / hypopigmentation of hair
- Dry / squaly skin / exfoliation
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Herniae
- High vaulted / narrow palate
- Hyperelastic skin / cutaneous hyperlaxity
- Hyperextensible joints / articular hyperlaxity
- Hypotonia
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Inguinal / inguinoscrotal / crural hernia
- Intracranial / cerebral / meningeal hemorrhage
- Microcephaly
- Motor deficit / trouble
- Pectus excavatum
- Seizures / epilepsy / absences / spasms / status epilepticus
- Umbilical hernia
- Woolly / frizzy hair
- X-linked recessive inheritance

Frequent
- Abnormal scarring / cheloids / hypertrophic scars
- Arterial stenosis / occlusion
- Carotid artery anomalies
- Enlargment of jaw / large jaw
- Exostoses
- Expressionless face / amimia
- Hepatitis / icterus / cholestasis
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Malabsorption / chronic diarrhea / steatorrhea
- Metaphyseal anomaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Muscle weakness / flaccidity
- Narrow rib cage / thorax
- Nausea / vomiting / regurgitation / merycism / hyperemesis
- Prominent occiput / occipital bossing
- Thick skin / pachydermia / orange skin
- Varices / varicous veins / venous insufficiency
- Wormian bones

Occasional
- Bladder / vesical diverticulum
- Bowed diaphysis / diaphyses / long bones
- Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia
- Hematomas
- Hypoglycemia
- Hypothermia
- Intrauterine growth retardation
- Mutiple fractures / bone fragility
- Osteomyelitis / osteitis / periostitis / spondylodisciitis
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Periarticular tissue anomaly / extraarticular calcifications
- Sepsis severe / septicemia
- Tarsal anomaly / fusion / synostosis