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Autosomal dominant secondary polycythemia
2 OMIM references -
2 associated genes
86 connected diseases
No signs/symptoms info
Disease Type of connection
Multiple paragangliomas associated with polycythemia
Sporadic pheochromocytoma
Sporadic secreting paraganglioma
Bardet-Biedl syndrome
Coffin-Siris syndrome
Chuvash erythrocytosis
Von Hippel-Lindau disease
Desmoid tumor
Familial rhabdoid tumor
Intellectual deficit - sparse hair - brachydactyly
Papillary or follicular thyroid carcinoma
Waardenburg syndrome type 2
Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Aneurysm - osteoarthritis syndrome
Familial thoracic aortic aneurysm and aortic dissection
Hereditary pheochromocytoma-paraganglioma
Congenital factor XII deficiency
Hereditary angioedema type 3
Prader-Willi syndrome due to imprinting mutation
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
Myxoid / round cell liposarcoma
5q14.3 microdeletion syndrome
6q25 microdeletion syndrome
APC-related attenuated familial adenomatous polyposis
Acute myeloblastic leukemia with maturation
Acute myeloblastic leukemia without maturation
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Acute myelomonocytic leukemia
Acute promyelocytic leukemia
Amyotrophic lateral sclerosis
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Atelosteogenesis type I
Atelosteogenesis type III
Atypical teratoid tumor
Autosomal dominant Larsen syndrome
Autosomal dominant nonsyndromic intellectual deficit
Autosomal recessive nonsyndromic intellectual deficit
Blepharophimosis-intellectual deficit syndrome, MKB type
Boomerang dysplasia
Branchio-oculo-facial syndrome
Cardiofaciocutaneous syndrome
Cerebellar ataxia - hypogonadism
Charcot-Marie-Tooth disease type 2B2
Clear cell renal carcinoma
Costello syndrome
Desmoplastic small round cell tumor
Ewing sarcoma
Extraskeletal Ewing sarcoma
Extraskeletal myxoid chondrosarcoma
FG syndrome type 1
Familial adenomatous polyposis due to 5q22.2 microdeletion
Familial dysautonomia
Familial multiple meningioma
Familial pancreatic carcinoma
Gardner syndrome
Hepatocellular carcinoma, childhood-onset
Hereditary nonpolyposis colon cancer
Hypohidrotic ectodermal dysplasia with immunodeficiency
Incontinentia pigmenti
Juvenile myelomonocytic leukemia
Kallmann syndrome
Linear nevus sebaceus syndrome
MITF-related melanoma and renal cell carcinoma predisposition syndrome
Melanoma of soft part
Neurofibromatosis type 3
Neurologic Waardenburg-Shah syndrome
Noonan syndrome
Ocular albinism with congenital sensorineural deafness
Papillary renal cell carcinoma
Pediatric systemic lupus erythematosus
Pilocytic astrocytoma
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Spondylocarpotarsal synostosis
Tietz syndrome
Turcot syndrome with polyposis
Waardenburg-Shah syndrome
X-linked Emery-Dreifuss muscular dystrophy
X-linked intellectual deficit with marfanoid habitus
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
X-linked non-syndromic intellectual deficit
- Autosomal dominant secondary erythrocytosis

Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease

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

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
2 OMIM references -
No MeSH references

Gene symbol UniProt reference OMIM reference
EGLN1 Q9GZT9606425
EPAS1 Q99814603349
No signs/symptoms info available.