KEGG DISEASE: Neurodevelopmental disorder with variable familial hypercholanemia

KEGG

DISEASE: Neurodevelopmental disorder with variable familial hypercholanemia

Entry

H02838                      Disease

Name

Neurodevelopmental disorder with variable familial hypercholanemia

Description

Neurodevelopmental disorder with variable familial hypercholanemia (NEDFHCA) is a novel syndrome caused by mutations in WDR83OS. Clinical features include neurodevelopmental disorder, facial dysmorphism, intractable itching, and elevated bile acids. WDR83OS encodes the protein Asterix, which heterodimerizes with CCDC47 to form the PAT (protein associated with ER translocon) complex.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
LD90 Conditions with disorders of intellectual development as a relevant clinical feature
H02838 Neurodevelopmental disorder with variable familial hypercholanemia

Gene

WDR83OS [HSA:51398] [KO:K24963]

Other DBs

ICD-11:

OMIM:

Reference

Authors

Barish S, Lin SJ, Maroofian R, Gezdirici A, Alhebby H, Trimouille A, Biderman Waberski M, Mitani T, Huber I, Tveten K, Holla OL, Busk OL, Houlden H, Ghayoor Karimiani E, Beiraghi Toosi M, Shervin Badv R, Najarzadeh Torbati P, Eghbal F, Akhondian J, Al Safar A, Alswaid A, Zifarelli G, Bauer P, Marafi D, Fatih JM, Huang K, Petree C, Calame DG, von der Lippe C, Alkuraya FS, Wali S, Lupski JR, Varshney GK, Posey JE, Pehlivan D

Title

Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia.

Journal

Am J Hum Genet 111:2566-2581 (2024)
DOI:10.1016/j.ajhg.2024.10.002

LinkDB

» Japanese version

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