Amish, Mennonite, and Hutterite
Genetic Disorder Database

Trichohepatoneurodevelopmental syndrome

Disorder
OMIM #: #618268  (Click to access OMIM database)
Disorder: Trichohepatoneurodevelopmental syndrome 
Also known as: THNS
CCDC47 deficiency 
Clinical
Phenotype: woolly hair, liver dysfunction, pruritus, dysmorphic features, hypotonia, global developmental delay 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish  
Gene: CCDC47
Base Change: c.1145delT
Amino Acid Change: p.Leu382Argfs*2
Last updated: 2019-01-22 

References
Morimoto M, Waller-Evans H, Ammous Z, Song X, Strauss KA, Pehlivan D, Gonzaga-Jauregui C, Puffenberger EG, Holst CR, Karaca E, Brigatti KW, Maguire E, Coban-Akdemir ZH, Amagata A, Lau CC, Chepa-Lotrea X, Macnamara E, Tos T, Isikay S, Nehrebecky M, Overton JD, Klein M, Markello TC, et al. (2018) Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay. Am J Hum Genet 2018 Nov 1;103(5):794-807.
PubMed ID: 30401460 

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