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Hoyeraal-Hreidarsson syndrome

1 OMIM reference -
4 associated genes
61 connected diseases
28 signs/symptoms

Disease	Type of connection
Dyskeratosis congenita
Familial melanoma
Idiopathic aplastic anemia
Idiopathic pulmonary fibrosis
Retinopathy - anemia- central nervous system anomalies
B-cell chronic lymphocytic leukemia
Cerebellar ataxia - hypogonadism
Familial isolated congenital asplenia
Cowden syndrome
Proteus syndrome
Acute promyelocytic leukemia
Anaplastic ependymoma
Dedifferentiated liposarcoma
Well-differentiated liposarcoma
Ewing sarcoma
Extraskeletal Ewing sarcoma
Peripheral primitive neuroectodermal tumor
Estrogen resistance syndrome
17q11 microdeletion syndrome
46,XY partial gonadal dysgenesis
Autosomal dominant childhood-onset cortical cataract
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit
Baraitser-Winter syndrome
Cone rod dystrophy
Developmental malformations - deafness - dystonia
Early-onset progressive neurodegeneration - blindness - ataxia - spasticity
Fabry disease
Familial cortical myoclonus
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Familial isolated dilated cardiomyopathy
Familial thoracic aortic aneurysm and aortic dissection
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
Glycogen storage disease due to phosphoglucomutase deficiency
Hemolytic anemia due to adenylate kinase deficiency
Hereditary nonpolyposis colon cancer
Hereditary sensory and autonomic neuropathy with spastic paraplegia
Hypermethioninemia due to glycine N-methyltransferase deficiency
Infantile Refsum disease
Leber congenital amaurosis
Leukocyte adhesion deficiency type III
Lissencephaly type 1 due to doublecortin gene mutation
Loeys-Dietz syndrome type 1
Marfan syndrome type 2
Muscular dystrophy, Selcen type
Neonatal adrenoleukodystrophy
Omenn syndrome
PGM-CDG
Pseudohypoaldosteronism type 2E
Retinitis pigmentosa
Severe combined immunodeficiency due to adenosine deaminase deficiency
Subcortical band heterotopia
Williams syndrome
Young adult-onset Parkinsonism
Zellweger syndrome
Chronic myeloid leukemia
Precursor B-cell acute lymphoblastic leukemia
Precursor T-cell acute lymphoblastic leukemia
CLN2 disease
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
ANE syndrome
Treacher-Collins syndrome

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

Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare hematologic disease - Rare immune disease - Rare neurologic disease		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		External references: 1 OMIM reference - 1 MeSH reference: C536068

Gene symbol	UniProt reference	OMIM reference
DKC1	O60832	300126
RTEL1	Q9NZ71	608833
TERT	O14746	187270
TINF2	Q9BSI4	604319

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