Leukodystrophy, Hypomyelinating, 5 (HLD5)

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Disease Ontology 12 DOID:0060793 OMIM 58 610532 MeSH 45 D020279 ICD10 34 G37.8 ICD10 via Orphanet 35 G37.8

UMLS via Orphanet 75 C1864663 Orphanet 60 ORPHA85163 MedGen 43 C1864663 C2674508 SNOMED-CT via HPO 70 111266001 128613002 14648003 192781003 224958001 228156007 246545002 246586009 247578003 249945007 258211005 302226006 30721006 313307000 366575004 42345000 42658009 609587005 61152003 64217002 79410001 8011004 84757009 86854008 91138005 91175000 more UMLS 74 C1864663

NIH Rare Diseases : ⁵⁴ Hypomyelination and congenitalcataract is a very rare disease characterized by cloudy coverings of the eye that are present at birth (congenital cataracts) and neurologic impairment that becomes apparent after the first year of life. The neurologic impairment is progressive and presents as ataxia and spasticity. Affected individuals may lose the ability to walk. Signs and symptoms may vary but can include loss of sensation in the hands and feet (peripheral neuropathy), curvature of the spine (scoliosis), difficulty speaking (dysarthria), seizures, and moderate intellectual disability. Hypomyelination and congenital cataract is caused by a change (mutation ) in the FAM126A gene and is inherited in an autosomal recessive manner. Diagnosis of hypomyelination and congenital cataract is based on clinical findings of muscle weakness and cataracts, and a brain MRI that indicates a loss of the myelin surrounding the neurons. The diagnosis can be confirmed by genetic testing of the FAM126A gene. Treatment is focused on relieving symptoms of the condition and may include physical therapy, special education, and medication to treat seizures.

MalaCards based summary : Leukodystrophy, Hypomyelinating, 5, also known as hypomyelination and congenital cataract, is related to leukodystrophy and hepatocellular carcinoma, and has symptoms including action tremor, abnormal pyramidal signs and cerebellar signs. An important gene associated with Leukodystrophy, Hypomyelinating, 5 is FAM126A (Family With Sequence Similarity 126 Member A). Affiliated tissues include eye, brain and liver, and related phenotypes are abnormal pyramidal sign and global developmental delay

Disease Ontology : ¹² A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency that has material basis in homozygous mutation in the FAM126A gene on chromosome 7p15.

Genetics Home Reference : ²⁶ Hypomyelination and congenital cataract is an inherited condition that affects the nervous system and the eyes. This disease is one of a group of genetic disorders called leukoencephalopathies. Leukoencephalopathies involve abnormalities of the brain's white matter. White matter consists of nerve fibers covered by a fatty substance called myelin. Myelin insulates nerve fibers and promotes the rapid transmission of nerve impulses. Hypomyelination and congenital cataract is caused by a reduced ability to form myelin (hypomyelination). Additionally, people with this disorder are typically born with a clouding of the lens (cataract) in both eyes.

UniProtKB/Swiss-Prot : ⁷⁶ Leukodystrophy, hypomyelinating, 5: A hypomyelinating leukodystrophy associated with congenital cataract. It is clinically characterized by congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency. Affected individuals experience progressive pyramidal and cerebellar dysfunction, muscle weakness and wasting prevailingly in the lower limbs. Mental deficiency ranges from mild to moderate. HLD5 shows clinical variability, but features of hypomyelination combined with increased periventricular white matter water content are consistently observed.

Description from OMIM: 610532

GeneReviews: NBK2587

Clinical features from OMIM:

610532

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