Cytoscape Web
Click node...


1 OMIM reference -
4 associated genes
28 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3
10 OMIM references -
13 associated genes
30 signs/symptoms
Hoyeraal-Hreidarsson syndrome
Neonatal adrenoleukodystrophy

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



Hoyeraal-Hreidarsson syndrome
Neonatal adrenoleukodystrophy

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

Synonym(s):
- NALD

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 endocrine disease
- 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):
- Endocrine, nutritional and metabolic diseases -

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: child / adolescent
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
1 MeSH reference: C536068
External references:
10 OMIM references -
1 MeSH reference: D018901


COMMON
SIGNS
- Autosomal recessive inheritance
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Short stature / dwarfism / nanism


Hoyeraal-Hreidarsson syndrome
Neonatal adrenoleukodystrophy

Very frequent
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Failure to thrive / difficulties for feeding in infancy / growth delay
- 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
- Hypertonia / spasticity / rigidity / stiffness
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Nails anomalies
- Rippled skin

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


Very frequent
- Anteverted nares / nostrils
- Broad nose / nasal bridge
- Cortico-adrenal hypoplasia / insufficiency
- Dolichocephaly / scaphocephaly
- EEG anomalies
- High forehead
- High vaulted / narrow palate
- Hypereflexia
- Hypotonia
- Low set ears / posteriorly rotated ears
- Metabolic anomalies
- Movement disorder
- Nystagmus
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Psychic / psychomotor regression / dementia / intellectual decline
- Seizures / epilepsy / absences / spasms / status epilepticus
- Sensorineural deafness / hearing loss
- Strabismus / squint
- Structural anomalies of the liver and the biliary tract

Frequent
- Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect
- Cataract / lens opacification
- Large fontanelle / delayed fontanelle closure
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Ptosis
- Retinitis pigmentosa / retinal pigmentary changes
- Simian crease / transverse / unique palmar crease
- Visual loss / blindness / amblyopia