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Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria
1 OMIM reference -
1 associated gene
8 connected diseases
26 signs/symptoms
Disease Type of connection
Autosomal dominant spastic paraplegia type 13
Choroideremia
Pelizaeus-Merzbacher-like due to HSPD1 mutation
Adult-onset proximal spinal muscular atrophy, autosomal dominant
Amyotrophic lateral sclerosis
Isolated NADH-CoQ reductase deficiency
Leigh syndrome with leukodystrophy
Triose phosphate-isomerase deficiency
Synonym(s):
- Ampola syndrome
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
MPST P25325602496
Very frequent
- Autosomal dominant inheritance
- High forehead
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Seizures / epilepsy / absences / spasms / status epilepticus
- Short stature / dwarfism / nanism

Frequent
- Anteverted nares / nostrils
- Beaked nose
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Dry / squaly skin / exfoliation
- Ear cartilage deficiency
- EEG anomalies
- Frontal bossing / prominent forehead
- Genu valgum
- High vaulted / narrow palate
- Hyperextensible joints / articular hyperlaxity
- Hypotonia
- Long hand / arachnodactyly
- Low set ears / posteriorly rotated ears
- Short limbs / micromelia / brachymelia
- Spindle shaped fingers
- Strabismus / squint
- Wide space between 1st-2nd toes

Occasional
- Atrial septal defect / interauricular communication
- Generalized obesity
- Umbilical hernia
- Ureter / calyx / pelvis duplication / bifid / retrocava / retroiliac ureter