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1 OMIM reference -
4 associated genes
28 signs/symptoms
PROTEIN INTERACTIONS: 1
3 associated genes
4 signs/symptoms
Hoyeraal-Hreidarsson syndrome
Well-differentiated liposarcoma

DKC1 CDK4
RTEL1 HMGA2
TERT MDM2
TINF2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TERT
(0.7)
MDM2



Citations in the biomedical literature:


Hoyeraal-Hreidarsson syndrome
DKC1 RTEL1 TERT TINF2
Well-differentiated liposarcoma
CDK4 HMGA2 MDM2



Hoyeraal-Hreidarsson syndrome
Well-differentiated liposarcoma

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

Synonym(s):
- ALT
- Atypical lipoma
- Atypical lipomatous tumor
- WDLS

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare hematologic disease
- Rare immune disease
- Rare neurologic disease
Classification (Orphanet):
- Rare oncologic disease

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Neoplasms -

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: adulthood
Average age of death: adult
Type of inheritance: sporadic

External references:
1 OMIM reference -
1 MeSH reference: C536068
External references:
No OMIM references
No MeSH references

Hoyeraal-Hreidarsson syndrome
Well-differentiated liposarcoma

Very frequent
- Autosomal recessive inheritance
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intrauterine growth retardation
- Microcephaly
- Purpura / petichiae
- Short stature / dwarfism / nanism
- 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
- Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma
- Subcutaneous nodules / lipomas / tumefaction / swelling

Occasional
- Functional anomalies of the kidney and the urinary tract
- Intestinal transit disorder