U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

CALFAN syndrome

MedGen UID:
1684796
•Concept ID:
C5204605
•
Disease or Syndrome
Synonyms: CALFAN Syndrome; Cholestasis, Acute Liver Failure, and Neurodegeneration

Definition

A condition caused by biallelic mutation(s) in the SCYL1 gene, encoding N-terminal kinase-like protein. It is characterized by peripheral neuropathy, cerebellar atrophy, ataxia, and recurrent episodes of liver failure. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CALFAN syndrome

Recent clinical studies

Etiology

SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN).
Lenz D, McClean P, Kansu A, Bonnen PE, Ranucci G, Thiel C, Straub BK, Harting I, Alhaddad B, Dimitrov B, Kotzaeridou U, Wenning D, Iorio R, Himes RW, Kuloğlu Z, Blakely EL, Taylor RW, Meitinger T, Kölker S, Prokisch H, Hoffmann GF, Haack TB, Staufner C
Genet Med 2018 Oct;20(10):1255-1265. Epub 2018 Feb 8 doi: 10.1038/gim.2017.260. PMID: 29419818Free PMC Article

Diagnosis

SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN).
Lenz D, McClean P, Kansu A, Bonnen PE, Ranucci G, Thiel C, Straub BK, Harting I, Alhaddad B, Dimitrov B, Kotzaeridou U, Wenning D, Iorio R, Himes RW, Kuloğlu Z, Blakely EL, Taylor RW, Meitinger T, Kölker S, Prokisch H, Hoffmann GF, Haack TB, Staufner C
Genet Med 2018 Oct;20(10):1255-1265. Epub 2018 Feb 8 doi: 10.1038/gim.2017.260. PMID: 29419818Free PMC Article

Clinical prediction guides

The Outcomes of an Individualized Physical Therapy Program in CALFAN Syndrome: A Case Report.
Yigit S, Albayrak HM, Perk Yücel P, Usgu S, Yakut Y
Pediatr Phys Ther 2022 Jul 1;34(3):432-437. Epub 2022 May 25 doi: 10.1097/PEP.0000000000000903. PMID: 35616485

Supplemental Content

Table of contents

    Clinical resources

    Consumer resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...