{"Name":"Hypomyelination and Congenital Cataract","DiseaseID__c":"GARD:0011980","id":11980,"encodedName":"hypomyelination-and-congenital-cataract","IsDeleted":false,"Disease_Name_Full__c":"Hypomyelination and Congenital Cataract","Xref_IDs__c":"702379005; C1864663; C567166; DOID:0060793; MEDGEN:501134; MONDO:0012514; NBK2587; OMIM:610532; ORPHA:85163","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":6,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":3,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0012514","Disease_Description__c":"A rare developmental defect during embryogenesis characterized by congenital or early onset cataracts (usually bilateral), developmental delay, progressive neurologic symptoms (including ataxia, spasticity and sometimes seizures) and mild-to-moderate cognitive impairment. Other major clinical features include truncal hypotonia, dysarthia, cerebellar signs (e.g: truncal titubation and intention tremor) and peripheral neuropathy (e.g: progressive weakness of the muscles in the lower limbs). Hypomyelination associated with periventricular white matter abnormalities is observed. Some patients may have mild lens opacity and cataracts could be absent.","GARD_Name__c":"Hypomyelination and Congenital Cataract","GARD_Synonym__c":"fam126a leukodystrophy; hcc - hypomyelination and congenital cataract; hld5; hypomyelinating leukodystrophy 5; hypomyelinating leukodystrophy type 5; hypomyelination-congenital cataract syndrome; leukodystrophy caused by mutation in fam126a; leukodystrophy, hypomyelinating, type 5","Curated_Disease_Description_Source__c":"GARD:0011980","Curated_Disease_Description__c":"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.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:85163","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012514","ORPHANET_ID__c":"ORPHA:85163","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de hipomielinización-catarata congénita","Spanish_Description_Source__c":"ORPHA:85163","Spanish_Description__c":"Es un defecto poco frecuente del desarrollo durante la embriogénesis caracterizado por cataratas congénitas o de aparición precoz (generalmente bilaterales), retraso del desarrollo, síntomas neurológicos progresivos (que incluyen ataxia, espasticidad y, en ocasiones, crisis epilépticas) y afectación cognitiva de leve a moderada. Otras características clínicas importantes incluyen hipotonía troncal, disartia, signos cerebelosos (como titubación troncal y temblor intencional) y neuropatía periférica (como debilidad progresiva de los músculos de las extremidades inferiores). También se observa hipomielinización asociada con anomalías de la sustancia blanca periventricular. Algunos pacientes pueden presentar leve opacidad del cristalino y podrían no padecer cataratas.","Spanish_Disease_Name__c":"síndrome de hipomielinización-catarata congénita","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:93890","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"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.","Curated_Disease_Description_Source__c":"GARD:0011980","GARD_Synonym__c":"fam126a leukodystrophy; hcc - hypomyelination and congenital cataract; hld5; hypomyelinating leukodystrophy 5; hypomyelinating leukodystrophy type 5; hypomyelination-congenital cataract syndrome; leukodystrophy caused by mutation in fam126a; leukodystrophy, hypomyelinating, type 5","Name":"Hypomyelination and Congenital Cataract","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Alex The Leukodystrophy Charity","Website__c":"https://www.alextlc.org"},{"Account_Name__c":"Hunter's Hope Foundation","Website__c":"https://www.huntershope.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Leukodystrophy","Tag_Category__c":"Account;Cause;Disease Category","category_description":"Leukodystrophies are a group of genetic neurological diseases that affect the white matter of the brain and spinal cord.","curated_tag_name":"Leukodystrophies"},{"Tag_Name__c":"Anterior segment of Eye","Tag_Category__c":"Specialist","curated_tag_name":"Front part of eye disease"},{"Tag_Name__c":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:85163"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:85163"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1864663"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK2587","Source__c":"Gene Review","Xref__c":"NBK2587"},{"URL__c":"https://www.omim.org/entry/610532","Source__c":"C1864663; MONDO:0012514; ORPHA:85163","Xref__c":"OMIM:610532"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1864663","Source__c":"C1864663","Xref__c":"C1864663"},{"URL__c":"https://www.orpha.net/en/disease/detail/85163","Source__c":"C1864663; MONDO:0012514; ORPHA:85163","Xref__c":"ORPHA:85163"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567166","Source__c":"MONDO:0012514","Xref__c":"C567166"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=702379005","Source__c":"C1864663; MONDO:0012514","Xref__c":"702379005"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060793","Source__c":"MONDO:0012514","Xref__c":"DOID:0060793"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=501134","Source__c":"C1864663","Xref__c":"MEDGEN:501134"},{"URL__c":"https://medlineplus.gov/genetics/condition/hypomyelination-and-congenital-cataract","Source__c":"GARD:0011980","Xref__c":"https://medlineplus.gov/genetics/condition/hypomyelination-and-congenital-cataract"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012514","Source__c":"GARD:0011980","Xref__c":"MONDO:0012514"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"HYCC1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/hycc1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:85163","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000519","HPO_Synonym__c":"Bilateral congenital cataracts; Cataract, congenital; Clouding of the lens of the eye at birth; Congenital cataract; Congenital cataracts; Congenital cataracts, bilateral","HPO_Name__c":"Developmental cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85163","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the white matter of the central nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006808","HPO_Synonym__c":"Hypomyelination of the brain","HPO_Name__c":"Cerebral hypomyelination","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85163","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001263","HPO_Synonym__c":"Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; GDD; Lack of psychomotor development; Motor and developmental delay; Motormental retardation; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development","HPO_Name__c":"Global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85163","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Moderate intellectual disability (ID) is defined as a type of ID characterized by moderately sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 35-49.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002342","HPO_Synonym__c":"Intellectual disability, moderate; IQ between 34 and 49; Mental retardation, moderate; Moderate mental deficiency; Moderate mental retardation","HPO_Name__c":"Moderate intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85163","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Functional neurological abnormalities related to dysfunction of the pyramidal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007256","HPO_Synonym__c":"Corticospinal signs; Pyramidal signs; Pyramidal tract signs","HPO_Name__c":"Abnormal pyramidal sign","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85163","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any structural abnormality of the cerebellum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001317","HPO_Synonym__c":"Abnormality of the cerebellum; Cerebellar abnormalities; Cerebellar abnormality; Cerebellar anomaly; Cerebellar signs","HPO_Name__c":"Abnormal cerebellum morphology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Leukodystrophy"],"Disease Category":["Genetics","Neurology","Leukodystrophy"],"Specialist":["Genetics","Neurology","Ophthalmology","Anterior segment of Eye","Neurodevelopmental disabilities","Pediatrics"],"Account":["Leukodystrophy"]},"synonyms":["fam126a leukodystrophy"," hcc - hypomyelination and congenital cataract"," hld5"," hypomyelinating leukodystrophy 5"," hypomyelinating leukodystrophy type 5"," hypomyelination-congenital cataract syndrome"," leukodystrophy caused by mutation in fam126a"," leukodystrophy, hypomyelinating, type 5"]}