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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
14 associated genes
118 signs/symptoms
Atelosteogenesis type I
MELAS syndrome

FLNB MT-CO1
MT-CO2
MT-CO3
MT-ND1
MT-ND4
MT-ND5
MT-ND6
MT-TF
MT-TH
MT-TL1
MT-TQ
MT-TS1
MT-TS2
MT-TW


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FLNB
(0.63)
MT-CO2



Citations in the biomedical literature:


Atelosteogenesis type I
FLNB
MELAS syndrome
MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5
MT-ND6 MT-TF MT-TH MT-TL1 MT-TQ MT-TS1
MT-TS2 MT-TW



Atelosteogenesis type I
MELAS syndrome

Synonym(s):
- AO1
- AOI
- Giant cell chondrodysplasia
- Spondylo-humero-femoral dysplasia

Synonym(s):
- Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
- Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare otorhinolaryngologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare cardiac disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare otorhinolaryngologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: mitochondrial inheritance

External references:
1 OMIM reference -
1 MeSH reference: C535396
External references:
1 OMIM reference -
1 MeSH reference: D017241

MELAS syndrome

Very frequent
- Abnormal EMG / electromyogram / electropmyography
- Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase
- Asthenia / fatigue / weakness
- Central neuropathy
- Early death in adulthood
- Facial pain / cephalalgia / migraine
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Muscle weakness / flaccidity
- Myopathy
- Organic acid metabolism anomalies
- Psychic / psychomotor regression / dementia / intellectual decline
- Respiratory chain / mitochondrial anomalies
- Seizures / epilepsy / absences / spasms / status epilepticus
- Transient cerebral ischemia / stroke

Frequent
- Abnormal visual field / hemianopsia / hemianopia / scotoma / visual peripheral rim
- Acute abdominal pain / colic
- Anorexia
- Ataxia / incoordination / trouble of the equilibrium
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Delirium / hallucination
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Hyperactivity / attention deficit
- Insulin-independent / type 2 diabetes
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intracranial / cerebral calcifications
- Myoclonus / fasciculations
- Nausea / vomiting / regurgitation / merycism / hyperemesis
- Nerve conduction abnormality
- Obnubilation / coma / lethargia / desorientation
- Pancreatitis
- Pollakiuria / polyuria / dysuria / anuria / acute urine retention / oliguria
- Ptosis
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Sensorineural deafness / hearing loss
- Short stature / dwarfism / nanism
- Structural anomalies of inner ear / cochlea / vestible / semicircular canals
- Transient amaurosis / acute visual trouble
- Troubles of memory / amnesia / hypermnesia
- Wasted (excluding lipodystrophy) / poorly muscled build / cachexy

Occasional
- Abnormal erosion / resorption of teeth / odontolysis
- Abnormal VEP / Visual evoked potential
- Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect
- Aortic dilatation / dilation
- Aortic dissection
- Apnea / sleep apnea
- Areflexia / hyporeflexia
- Arthrogryposis
- Autism / autistic disoders
- Cardiac conduction defect / sinoauricular / heart / auriculoventricular / branch block
- Cardiac rhythm disorder / arrhythmia
- Cardiomyopathy / hypertrophic / dilated
- Cataract / lens opacification
- Chronic arterial hypertension
- Collapse / sudden death / cardiac arrest / cardiorespiratory arrest
- Constipation
- Contractures / cramps / trismus / tetania / claudication / opisthotonos
- Cortico-adrenal hypoplasia / insufficiency
- Delayed bone age
- Dilated cerebral ventricles without hydrocephaly
- Dystonia / torticollis / writer's cramp / blepharospasms
- EEG anomalies
- Elocution disorders / dysarthria / dysphonia
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Expressionless face / amimia
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Fever / chilling
- Functional anomalies of the liver and the biliary tract
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Goiter
- Heart / cardiac failure
- Hematomas
- Hirsutism / hypertrichosis / Increased body hair
- Hypercalciuria
- Hypertelorism
- Hyperthyroidy
- Hypoparathyroidy
- Hypothalamic-hypophyseal axis functional anomalies / hypopituitarism
- Hypothyroidy
- Hypotonia
- Ichthyosis / ichthyosiform dermatitis
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Insulin-dependent / type 1 diabetes
- Interstitial nephropathy
- Intestinal obstruction / ileus
- Intestinal transit disorder
- Irregular / patchy skin hypopigmentation
- Late puberty / hypogonadism / hypogenitalism
- Macular dystrophy / absence / hypoplasia of the macula
- Malabsorption / chronic diarrhea / steatorrhea
- Metabolic decompensation
- Microcephaly
- Mild visual loss / impaired visual acuity
- Multiple caries
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Myalgia / muscular pain
- Nephrotic syndrome
- Night blindness / hemeralopia
- Ophthalmoplegia / ophthalmoparesis / oculomotor palsy
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness
- Peripheral neuropathy
- Prominent / bat ears
- Proteinuria
- Psychosis / schizophrenia / maniac disorder
- Pulmonary hypertension
- Pulmonary thromboembolism
- Purpura / petichiae
- Renal failure
- Renal glomerular defect / glomerulopathy
- Renal tubular defect / tubulopathy
- Retinitis pigmentosa / retinal pigmentary changes
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Thickened / hypertrophic / fibromatous gingivae
- Thyroiditis
- Tremor
- Xanthomas / lipomas


Atelosteogenesis type I

(no data available)