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1 OMIM reference -
4 associated genes
28 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
22 OMIM references -
22 associated genes
7 signs/symptoms
Hoyeraal-Hreidarsson syndrome
Cone rod dystrophy

DKC1 ABCA4
RTEL1 ADAM9
TERT AIPL1
TINF2 C8ORF37
CACNA1F
CACNA2D4
CDHR1
CRX
GUCA1A
GUCY2D
OPN1LW
OPN1MW
PITPNM3
PROM1
PRPH2
RAB28
RAX2
RIMS1
RPGR
RPGRIP1
SEMA4A
UNC119


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TINF2
(0.63)
AIPL1



Citations in the biomedical literature:


Hoyeraal-Hreidarsson syndrome
DKC1 RTEL1 TERT TINF2
Cone rod dystrophy
ABCA4 ADAM9 AIPL1 C8ORF37 CACNA1F CACNA2D4
CDHR1 CRX GUCA1A GUCY2D OPN1LW OPN1MW
PITPNM3 PROM1 PRPH2 RAB28 RAX2 RIMS1
RPGR RPGRIP1 SEMA4A UNC119



Hoyeraal-Hreidarsson syndrome
Cone rod dystrophy

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

Synonym(s):
(no synonyms)

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

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

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: 1-9 / 100 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal dominant

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


COMMON
SIGNS
- Autosomal recessive inheritance


Hoyeraal-Hreidarsson syndrome
Cone rod dystrophy

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
- 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
- Night blindness / hemeralopia
- Photophobia
- Retinitis pigmentosa / retinal pigmentary changes

Frequent
- Achromatopsia / dyschromatopsia / daltonism / impaired colour vision
- Autosomal dominant inheritance

Occasional
- Mild visual loss / impaired visual acuity