Leukodystrophy, Hypomyelinating, 11 (HLD11)

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OMIM®: ⁵⁷ Hypomyelinating leukodystrophy-11 (HLD11) is an autosomal recessive neurologic disorder characterized by delayed psychomotor development and other neurologic features associated with hypomyelination on brain imaging. Some patients may have additional nonneurologic features, particularly dental abnormalities and possibly hypogonadotropic hypogonadism (summary by Thiffault et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see 312080. (616494) (Updated 08-Dec-2022)

MalaCards based summary: Leukodystrophy, Hypomyelinating, 11, also known as hypomyelinating leukodystrophy 11, is related to cerebrooculofacioskeletal syndrome 2 and cerebellofaciodental syndrome. An important gene associated with Leukodystrophy, Hypomyelinating, 11 is POLR1C (RNA Polymerase I And III Subunit C), and among its related pathways/superpathways are RNA Polymerase III Transcription Initiation and Cytosolic sensors of pathogen-associated DNA. Affiliated tissues include brain and peripheral nerve, and related phenotypes are intellectual disability and spasticity

UniProtKB/Swiss-Prot: ⁷³ An autosomal recessive neurologic disorder characterized by brain hypomyelination, delayed psychomotor development, intellectual disability, tremor and other neurologic symptoms. Some patients may additionally manifest non-neurologic features, particularly dental abnormalities and hypogonadotropic hypogonadism.

Disease Ontology: ¹¹ A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of delayed psychomotor development and other neurologic features associated with hypomyelination that has material basis in homozygous or compound heterozygous mutation in the POLR1C gene on chromosome 6p21.

Clinical features from OMIM®:

Search Clinical Trials, NIH Clinical Center for Leukodystrophy, Hypomyelinating, 11