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HLD5
MCID: LKD009
MIFTS: 46
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Leukodystrophy, Hypomyelinating, 5 (HLD5)
Categories:
Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Leukodystrophy, Hypomyelinating, 5:
Characteristics:Orphanet epidemiological data:58
hypomyelination-congenital cataract syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; HPO:31
leukodystrophy, hypomyelinating, 5:
Inheritance autosomal recessive inheritance Onset and clinical course variable expressivity infantile onset GeneReviews:24
Penetrance Penetrance is complete.
Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Eye diseases
ICD10:
32
33
Orphanet: 58
Rare neurological diseases
Rare eye diseases External Ids:
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Genetics Home Reference :
25
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.
People with this condition usually have normal development throughout the first year of life. Development slows around the age of 1. Most affected children learn to walk between the ages of 1 and 2, although they usually need some type of support. Over time they experience muscle weakness and wasting (atrophy) in their legs, and many affected people eventually require wheelchair assistance. Weakness in the muscles of the trunk and a progressive abnormal curvature of the spine (scoliosis) further impair walking in some individuals. Most people with hypomyelination and congenital cataract have reduced sensation in their arms and legs (peripheral neuropathy). In addition, affected individuals typically have speech difficulties (dysarthria) and mild to moderate intellectual disability.
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 testes, and related phenotypes are global developmental delay and abnormal pyramidal sign 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. NIH Rare Diseases : 52 Hypomyelination and congenital cataract 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 . UniProtKB/Swiss-Prot : 73 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.
GeneReviews:
NBK2587
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Human phenotypes related to Leukodystrophy, Hypomyelinating, 5:58 31 (show all 24)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:610532UMLS symptoms related to Leukodystrophy, Hypomyelinating, 5:action tremor, abnormal pyramidal signs, cerebellar signs GenomeRNAi Phenotypes related to Leukodystrophy, Hypomyelinating, 5 according to GeneCards Suite gene sharing:26 (show all 13)
MGI Mouse Phenotypes related to Leukodystrophy, Hypomyelinating, 5:45
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MalaCards organs/tissues related to Leukodystrophy, Hypomyelinating, 5:40
Eye,
Brain,
Testes,
Cerebellum
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Articles related to Leukodystrophy, Hypomyelinating, 5:(show all 18)
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Genes related to Leukodystrophy, Hypomyelinating, 5 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Leukodystrophy, Hypomyelinating, 5:6 (show top 50) (show all 147)
UniProtKB/Swiss-Prot genetic disease variations for Leukodystrophy, Hypomyelinating, 5:73
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Cellular components related to Leukodystrophy, Hypomyelinating, 5 according to GeneCards Suite gene sharing:
Biological processes related to Leukodystrophy, Hypomyelinating, 5 according to GeneCards Suite gene sharing:
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