Cytoscape Web
Click node...


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

DKC1 ABL1
RTEL1 AFF1
TERT AUTS2
TINF2 BCR
CDKN2A
ETV6
FLT3
FOXP1
GATA3
HLF
IGH
IKZF1
KMT2A
PAX5
PBX1
PDGFRA
PIP4K2A
RUNX1
TCF3
TP53


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TERT
(0.55)
ABL1



Citations in the biomedical literature:


Hoyeraal-Hreidarsson syndrome
DKC1 RTEL1 TERT TINF2
Precursor B-cell acute lymphoblastic leukemia
ABL1 AFF1 AUTS2 BCR CDKN2A ETV6
FLT3 FOXP1 GATA3 HLF IGH IKZF1
KMT2A PAX5 PBX1 PDGFRA PIP4K2A RUNX1
TCF3 TP53



Hoyeraal-Hreidarsson syndrome
Precursor B-cell acute lymphoblastic leukemia

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

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

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:
1 OMIM reference -
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 B-cell acute lymphoblastic leukemia

(no data available)