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1 OMIM reference -
4 associated genes
28 signs/symptoms
PROTEIN INTERACTIONS: 3
COMMON SIGNS: 3
1 OMIM reference -
9 associated genes
28 signs/symptoms
Hoyeraal-Hreidarsson syndrome
Omenn syndrome

DKC1 ADA
RTEL1 CHD7
TERT DCLRE1C
TINF2 IL2RG
IL7R
LIG4
RAG1
RAG2
RMRP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
DKC1
TERT
TINF2
(0.73)
(0.63)
(0.63)
RMRP
RMRP
ADA



Citations in the biomedical literature:


Hoyeraal-Hreidarsson syndrome
DKC1 RTEL1 TERT TINF2
Omenn syndrome
ADA CHD7 DCLRE1C IL2RG IL7R LIG4
RAG1 RAG2 RMRP



Hoyeraal-Hreidarsson syndrome
Omenn syndrome

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

Synonym(s):
- Combined immunodeficiency with hypereosinophilia

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

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

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: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal recessive

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


COMMON
SIGNS
- Anaemia
- Autosomal recessive inheritance
- Failure to thrive / difficulties for feeding in infancy / growth delay


Hoyeraal-Hreidarsson syndrome
Omenn syndrome

Very frequent
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- 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
- 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
- Alopecia
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Hepatomegaly / liver enlargement (excluding storage disease)
- Lymphadenopathy / polyadenopathies
- Lymphocytes anomalies
- Malabsorption / chronic diarrhea / steatorrhea
- Severe combined immune deficiency syndrome / SCID

Frequent
- Absent / decreased / thin eyebrows
- Cutaneous edema
- Dry / squaly skin / exfoliation
- Eosinophils anomalies / hypereosinophilia
- Fever / chilling
- Ground-glass / reticular / alveolar / interstitial lung / pulmonary opacity
- Hyperleukocytosis / leukocytosis
- Pruritus / itching
- Splenomegaly
- Thick skin / pachydermia / orange skin

Occasional
- Autoimmunity / autoimmune reaction / autoantibodies
- Dysplastic / thick / grooved fingernails
- Hypothyroidy
- Lymphoma
- Metaphyseal anomaly
- Nephrotic syndrome
- Sepsis severe / septicemia
- Thyroiditis