Bachmann-Bupp syndrome; Neurodevelopmental disorder with alopecia and brain abnormalities
Description
Bachmann-Bupp syndrome (BABS), also known as neurodevelopmental disorder with alopecia and brain abnormalities (NEDABA) is a neurometabolic disorder associated with global developmental delay, ectodermal abnormalities including alopecia, macrocephaly, dysmorphic features, and characteristic neuroimaging findings. It has been reported that gain-of-function mutations in ODC1 gene cause this syndrome. ODC1 encodes ornithine decarboxylase 1, the rate-limiting enzyme in endogenous polyamine synthesis.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C50 Inborn errors of amino acid or other organic acid metabolism
H02919 Bachmann-Bupp syndrome
Pathway-based classification of diseases [BR:br08402]
Amino acid metabolism
nt06033 Glycine, serine and arginine metabolism
H02919 Bachmann-Bupp syndrome
Rodan LH, Anyane-Yeboa K, Chong K, Klein Wassink-Ruiter JS, Wilson A, Smith L, Kothare SV, Rajabi F, Blaser S, Ni M, DeBerardinis RJ, Poduri A, Berry GT
Title
Gain-of-function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities.
