Cytoscape Web
Click node...

Hoyeraal-Hreidarsson syndrome
1 OMIM reference -
4 associated genes
28 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4
Fabry disease
1 OMIM reference -
1 associated gene
66 signs/symptoms
Hoyeraal-Hreidarsson syndrome
Fabry disease

DKC1
(UniProt - OMIM)
 GLA
(UniProt - OMIM)
RTEL1
(UniProt - OMIM)
TERT
(UniProt - OMIM)
TINF2
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
TERT
(0.63)
GLA


Citations in the biomedical literature:


Hoyeraal-Hreidarsson syndrome
DKC1 RTEL1 TERT TINF2
Fabry disease
GLA



Hoyeraal-Hreidarsson syndrome
Fabry disease

Synonym(s):
- Progressive pancytopenia - immunodeficiency - cerebellar hypoplasia
Synonym(s):
- Alpha-galactosidase A deficiency
- Anderson-Fabry disease
- Angiokeratoma corporis diffusum
- Diffuse angiokeratoma
- FD
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare hematologic disease
- Rare immune disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare cardiac disease
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare renal disease
- Rare skin disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
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: 1-5 / 10 000
Average age onset: childhood
Average age of death: adult
Type of inheritance: x-linked recessive
External references:
1 OMIM reference -
1 MeSH reference: C536068
External references:
1 OMIM reference -
1 MeSH reference: D000795
COMMON
SIGNS 		- Anaemia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Short stature / dwarfism / nanism
- X-linked recessive inheritance

Hoyeraal-Hreidarsson syndrome
Fabry disease

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
- Intrauterine growth retardation
- Microcephaly
- Purpura / petichiae
- Thrombocytopenia / thrombopenia

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
- Acute abdominal pain / colic
- Arthritis / synovitis / synovial proliferation
- Articular / joint pain / arthralgia
- Asthenia / fatigue / weakness
- Conjunctival telangiectasia
- Corneal clouding / opacity / vascularisation
- Corneal dystrophy
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Follicular / erythematous / edematous papules / milium
- Hearing loss / hypoacusia / deafness
- Heart / cardiac failure
- Hematuria / microhematuria
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance
- Malabsorption / chronic diarrhea / steatorrhea
- Myalgia / muscular pain
- Nephrotic syndrome
- Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness
- Renal failure
- Subcutaneous nodules / lipomas / tumefaction / swelling
- Telangiectasiae of mucosae
- Telangiectasiae of the skin
- Transient cerebral ischemia / stroke
- Vascular anomalies of skin / mucosae

Frequent
- Anorexia
- Aortic valve atresia / stenosis / narrowing / supra-aortic / supra-valvular stenosis
- Cardiac conduction defect / sinoauricular / heart / auriculoventricular / branch block
- Cataract / lens opacification
- Coarse face
- Emphysema
- Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia
- Late puberty / hypogonadism / hypogenitalism
- Lipidosis / sulfatidosis
- Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly
- Nausea / vomiting / regurgitation / merycism / hyperemesis
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Proteinuria
- Psychic / behavioural troubles
- Renal disease / nephropathy
- Renal tubular defect / tubulopathy
- Thick lips

Occasional
- Angor pectoris / myocardial infarction
- Cardiac rhythm disorder / arrhythmia
- Cardiomyopathy / hypertrophic / dilated
- Chronic arterial hypertension
- Chronic obstructive pulmonary disease / COPD / obstructive respiratory syndrome
- Diabetes insipidus
- Dizziness
- Endocardium anomalies / fibroelastosis / endocarditis
- Femur anomaly / absence / agenesis / hypoplasia / bifurcation
- Fever / chilling
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Hyperesthesia / allodynia / hyperalgia
- Lymphedema
- Myocardium anomalies / myocarditis
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Psychic / psychomotor regression / dementia / intellectual decline
- Renal glomerular defect / glomerulopathy
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Seizures / epilepsy / absences / spasms / status epilepticus
- Sensorineural deafness / hearing loss