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Huppke-Brendel syndrome

Synonyms
ACETYL-CoA TRANSPORTER DEFICIENCY; Congenital cataract-hearing loss-severe developmental delay syndrome; Congenital cataracts, hearing loss, and neurodegeneration
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Huppke-Brendel Syndrome
Huppke-Brendel syndrome (HBS) is characterized by bilateral congenital cataracts, sensorineural hearing loss, and severe developmental delay. To date, six individuals with HBS have been reported in the literature. All presented in infancy with axial hypotonia; motor delay was apparent in the first few months of life with lack of head control and paucity of limb movement. Seizures have been reported infrequently. In all individuals described to date serum copper and ceruloplasmin levels were very low or undetectable. Brain MRI examination showed hypomyelination, cerebellar hypoplasia mainly affecting the vermis, and wide subarachnoid spaces. None of the individuals reported to date were able to sit or walk independently. All affected individuals died between age ten months and six years.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Parayil Sankaran Bindu
Shwetha Chiplunkar
VP Vandana
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Available tests

36 tests are in the database for this condition.

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Clinical tests (36 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ACATN, AT-1, AT1, CCHLND, HPBDS, SPG42, SLC33A1
    Summary: solute carrier family 33 member 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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