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1 OMIM reference -
4 associated genes
28 signs/symptoms
PROTEIN INTERACTIONS: 7
20 associated genes
No signs/symptoms info
Hoyeraal-Hreidarsson syndrome
Precursor T-cell acute lymphoblastic leukemia

DKC1 ABL1
RTEL1 BCR
TERT CDKN2A
TINF2 CNOT3
DDX3X
FLT3
HNRNPH1
MLLT10
MYB
MYC
PICALM
STIL
TAL1
TCL1A
TLX1
TLX3
TRA
()
TRB
TRD
TRG
()


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
DKC1
DKC1
DKC1
TERT
TERT
TERT
TERT
(0.73)
(0.73)
(0.73)
(0.63)
(0.63)
(0.63)
(0.55)
TRA
TRD
TRG
TRA
TRD
TRG
ABL1



Citations in the biomedical literature:


Hoyeraal-Hreidarsson syndrome
DKC1 RTEL1 TERT TINF2
Precursor T-cell acute lymphoblastic leukemia
ABL1 BCR CDKN2A CNOT3 DDX3X FLT3
HNRNPH1 MLLT10 MYB MYC PICALM STIL
TAL1 TCL1A TLX1 TLX3 TRA TRB
TRD TRG



Hoyeraal-Hreidarsson syndrome
Precursor T-cell acute lymphoblastic leukemia

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

Synonym(s):
- Precursor T-cell acute lymphoblastic leukemia/lymphoma
- Precursor T-cell acute lymphocytic leukemia
- Precursor T-cell acute lymphocytic leukemia/lymphoma
- T-ALL

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare hematologic disease
- Rare immune disease
- Rare neurologic disease
Classification (Orphanet):
- Rare hematologic disease
- 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:
(no data available)

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

Hoyeraal-Hreidarsson syndrome

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


Precursor T-cell acute lymphoblastic leukemia

(no data available)