KEGG DISEASE: Faundes-Banka syndrome

KEGG

DISEASE: Faundes-Banka syndrome

Entry

H02653                      Disease

Name

Faundes-Banka syndrome

Description

Faundes-Banka syndrome (FABAS) is rare neurodevelopmental disorder characterized by variable combinations of developmental delay, microcephaly, micrognathia and dysmorphism. Mutations in EIF5A cause this disease. EIF5A encodes the eukaryotic translation factor 5A (eIF5A) that plays a pivotal role during translation. It is the only cellular protein known to undergo hypusination that is essential to resolve ribosomal stalling during the translation of proline-rich polypeptides.

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
    H02653  Faundes-Banka syndrome

Gene

EIF5A [HSA:1984] [KO:K03263]

Other DBs

ICD-11:

OMIM:

Reference

Authors

Faundes V, Jennings MD, Crilly S, Legraie S, Withers SE, Cuvertino S, Davies SJ, Douglas AGL, Fry AE, Harrison V, Amiel J, Lehalle D, Newman WG, Newkirk P, Ranells J, Splitt M, Cross LA, Saunders CJ, Sullivan BR, Granadillo JL, Gordon CT, Kasher PR, Pavitt GD, Banka S

Title

Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine.

Journal

Nat Commun 12:833 (2021)
DOI:10.1038/s41467-021-21053-2

Reference

Authors

Wator E, Wilk P, Biela A, Rawski M, Zak KM, Steinchen W, Bange G, Glatt S, Grudnik P

Title

Cryo-EM structure of human eIF5A-DHS complex reveals the molecular basis of hypusination-associated neurodegenerative disorders.

Journal

Nat Commun 14:1698 (2023)
DOI:10.1038/s41467-023-37305-2

LinkDB

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