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1 OMIM reference -
4 associated genes
28 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 6
10 OMIM references -
13 associated genes
26 signs/symptoms
Hoyeraal-Hreidarsson syndrome
Infantile Refsum disease

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
Infantile Refsum disease
PEX1 PEX10 PEX11B PEX12 PEX13 PEX14
PEX16 PEX19 PEX2 PEX26 PEX3 PEX5
PEX6



Hoyeraal-Hreidarsson syndrome
Infantile Refsum disease

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

Synonym(s):
- IRD

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

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
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: child / adolescent
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: any age
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
1 MeSH reference: C536068
External references:
10 OMIM references -
1 MeSH reference: D052919


COMMON
SIGNS
- Ataxia / incoordination / trouble of the equilibrium
- Autosomal recessive inheritance
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hypertonia / spasticity / rigidity / stiffness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Short stature / dwarfism / nanism


Hoyeraal-Hreidarsson syndrome
Infantile Refsum disease

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

Frequent
- Anaemia
- Clotting / hemostasis disorders
- 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
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Nails anomalies
- Rippled skin

Occasional
- Areflexia / hyporeflexia
- Bone marrow failure / pancytopenia
- Intracranial / cerebral calcifications
- Neoplasms / tumors
- White cell disorders


Very frequent
- Hepatomegaly / liver enlargement (excluding storage disease)
- Metabolic anomalies
- Mild visual loss / impaired visual acuity
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Night blindness / hemeralopia
- Retinitis pigmentosa / retinal pigmentary changes

Frequent
- Hearing loss / hypoacusia / deafness
- Hypotonia
- Nystagmus
- Psychic / behavioural troubles
- Sensorineural deafness / hearing loss

Occasional
- Cardiac rhythm disorder / arrhythmia
- Cardiomyopathy / hypertrophic / dilated
- Cataract / lens opacification
- Epiphyseal anomaly
- Face / facial anomalies
- Facial palsy
- Ichthyosis / ichthyosiform dermatitis
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Seizures / epilepsy / absences / spasms / status epilepticus