KEGG DISEASE: Craniofaciocardiohepatic syndrome

KEGG

DISEASE: Craniofaciocardiohepatic syndrome

Entry

H03021                      Disease

Name

Craniofaciocardiohepatic syndrome

Description

Craniofaciocardiohepatic syndrome (CFCHS) is a novel syndrome characterized by craniofacial anomalies, congenital heart defects, and chronic liver dysfunction. It has been reported that mutations in AMOTL1 cause this syndrome. AMOTL1 is involved in critical cellular pathways that regulate cell polarity, adhesion, and signaling.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2F  Syndromes with multiple structural anomalies, without predominant body system involvement
    H03021  Craniofaciocardiohepatic syndrome

Gene

AMOTL1 [HSA:154810] [KO:K06104]

Other DBs

ICD-11:

OMIM:

Reference

Authors

Gallego-Zazo N, Tenorio-Castano J, Parra A, Nevado J, Cazalla M, Lucas-Castro E, Heath KE, Palomares M, Soengas E, Lledin MD, Larrea E, Olveira A, Morte B, Carracedo A, Lapunzina P

Title

AMOTL1 -Associated Multiple Congenital Anomalies (Craniofaciocardiohepatic Syndrome, CFCHS): A Novel Clinical Spectrum Including Craniofacial, Heart and Liver Abnormalities.

Journal

Clin Genet 107:234-236 (2025)
DOI:10.1111/cge.14644

Reference

Authors

Strong A, Rao S, von Hardenberg S, Li D, Cox LL, Lee PC, Zhang LQ, Awotoye W, Diamond T, Gold J, Gooch C, Gowans LJJ, Hakonarson H, Hing A, Loomes K, Martin N, Marazita ML, Mononen T, Piccoli D, Pfundt R, Raskin S, Scherer SW, Sobriera N, Vaccaro C, Wang X, Watson D, Weksberg R, Bhoj E, Murray JC, Lidral AC, Butali A, Buckley MF, Roscioli T, Koolen DA, Seaver LH, Prows CA, Stottmann RW, Cox TC

Title

A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature.

Journal

Am J Med Genet A 191:1227-1239 (2023)
DOI:10.1002/ajmg.a.63130

LinkDB

» Japanese version

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