DISEASE: Fibrosis, neurodegeneration, and cerebral angiomatosis
Entry
H02695 Disease
Name
Fibrosis, neurodegeneration, and cerebral angiomatosis
Description
Fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA) is a novel autosomal recessive disease characterized by early-onset cerebropulmonary symptoms, malabsorption, growth failure, recurrent infections, hemolytic anemia, liver dysfunction, and lung fibrosis that leads to respiratory failure and death. It has been reported that mutations in NHLRC2 cause FINCA.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD20 Syndromes with central nervous system anomalies as a major feature
H02695 Fibrosis, neurodegeneration, and cerebral angiomatosis
Uusimaa J, Kaarteenaho R, Paakkola T, Tuominen H, Karjalainen MK, Nadaf J, Varilo T, Uusi-Makela M, Suo-Palosaari M, Pietila I, Hiltunen AE, Ruddock L, Alanen H, Biterova E, Miinalainen I, Salminen A, Soininen R, Manninen A, Sormunen R, Kaakinen M, Vuolteenaho R, Herva R, Vieira P, Dunder T, Kokkonen H, Moilanen JS, Rantala H, Nogee LM, Majewski J, Ramet M, Hallman M, Hinttala R
Title
NHLRC2 variants identified in patients with fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA): characterisation of a novel cerebropulmonary disease.
