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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
12 OMIM references -
13 associated genes
55 signs/symptoms
Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
Zellweger syndrome

IDH1 PEX1
PEX10
PEX11B
PEX12
PEX13
PEX14
PEX16
PEX19
PEX2
PEX26
PEX3
PEX5
PEX6


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
IDH1
(0.49)
PEX5



Citations in the biomedical literature:


Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
IDH1
Zellweger syndrome
PEX1 PEX10 PEX11B PEX12 PEX13 PEX14
PEX16 PEX19 PEX2 PEX26 PEX3 PEX5
PEX6



Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
Zellweger syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- Cerebrohepatorenal syndrome
- ZS

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare hepatic disease
- Rare neurologic disease
- Rare renal disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
No MeSH references
External references:
12 OMIM references -
1 MeSH reference: D015211

Zellweger syndrome

Very frequent
- Areflexia / hyporeflexia
- Autosomal recessive inheritance
- Broad nose / nasal bridge
- Corneal clouding / opacity / vascularisation
- Death in infancy
- Depressed nasal bridge
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- EEG anomalies
- Epicanthic folds
- External ear anomalies
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Flat face
- Hepatitis / icterus / cholestasis
- Hepatocellular liver disease / hepatic failure
- Hepatomegaly / liver enlargement (excluding storage disease)
- High forehead
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Large fontanelle / delayed fontanelle closure
- Organic acid metabolism anomalies
- Punctate epiphyses / epiphysis
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Short stature / dwarfism / nanism
- Upslanted palpebral fissures / mongoloid slanting palpebral fissures

Frequent
- Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect
- Brachycephaly / flat occiput
- Cataract / lens opacification
- Embryotoxon
- Female pseudohermaphrodism / virilisation / clitoridomegaly
- Flat supraorbital ridge
- Gastric / pyloric stenosis
- High vaulted / narrow palate
- Hypospadias / epispadias / bent penis
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Malabsorption / chronic diarrhea / steatorrhea
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Microcephaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Multicystic kidney / renal dysplasia
- Nystagmus
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Prematurity
- Retinal / chorioretinal dysplasia / dystrophy
- Seizures / epilepsy / absences / spasms / status epilepticus
- Sensorineural deafness / hearing loss
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Visual loss / blindness / amblyopia

Occasional
- Brushfield spots
- Clotting / hemostasis disorders
- Cortico-adrenal hypoplasia / insufficiency
- Excess nuchal skin without pterygium colli
- Glaucoma
- Macroglossia / tongue protrusion / proeminent / hypertrophic
- Ventricular septal defect / interventricular communication


Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria

(no data available)