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1 OMIM reference -
4 associated genes
28 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 7
12 OMIM references -
13 associated genes
55 signs/symptoms
Hoyeraal-Hreidarsson syndrome
Zellweger syndrome

DKC1 PEX1
RTEL1 PEX10
TERT PEX11B
TINF2 PEX12
PEX13
PEX14
PEX16
PEX19
PEX2
PEX26
PEX3
PEX5
PEX6


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TINF2
(0.63)
PEX5



Citations in the biomedical literature:


Hoyeraal-Hreidarsson syndrome
DKC1 RTEL1 TERT TINF2
Zellweger syndrome
PEX1 PEX10 PEX11B PEX12 PEX13 PEX14
PEX16 PEX19 PEX2 PEX26 PEX3 PEX5
PEX6



Hoyeraal-Hreidarsson syndrome
Zellweger syndrome

Synonym(s):
- Progressive pancytopenia - immunodeficiency - cerebellar hypoplasia

Synonym(s):
- Cerebrohepatorenal syndrome
- ZS

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare hematologic disease
- Rare immune disease
- Rare neurologic 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):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: child / adolescent
Type of inheritance: autosomal dominant
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 -
1 MeSH reference: C536068
External references:
12 OMIM references -
1 MeSH reference: D015211


COMMON
SIGNS
- Areflexia / hyporeflexia
- Autosomal recessive inheritance
- Clotting / hemostasis disorders
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Microcephaly
- Short stature / dwarfism / nanism


Hoyeraal-Hreidarsson syndrome
Zellweger syndrome

Very frequent
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Intrauterine growth retardation
- Purpura / petichiae
- Thrombocytopenia / thrombopenia
- X-linked recessive inheritance

Frequent
- Anaemia
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Decreased hair pigmentation / hypopigmentation of hair
- Diffuse / generalised skin hyperpigmentation / melanoderma
- Dilated cerebral ventricles without hydrocephaly
- Enanthema / aphtosa / aphta / leukoplakia
- Hypertonia / spasticity / rigidity / stiffness
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Nails anomalies
- Rippled skin

Occasional
- Ataxia / incoordination / trouble of the equilibrium
- Bone marrow failure / pancytopenia
- Intracranial / cerebral calcifications
- Neoplasms / tumors
- White cell disorders


Very frequent
- 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
- 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
- Large fontanelle / delayed fontanelle closure
- Organic acid metabolism anomalies
- Punctate epiphyses / epiphysis
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- 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
- 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
- Cortico-adrenal hypoplasia / insufficiency
- Excess nuchal skin without pterygium colli
- Glaucoma
- Macroglossia / tongue protrusion / proeminent / hypertrophic
- Ventricular septal defect / interventricular communication