Leukodystrophy, hypomyelinating, 5

Preferred Label : Leukodystrophy, hypomyelinating, 5;

Symbol : HLD5;

CISMeF acronym : HLD5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hypomyelination and congenital cataract: hcc;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the family with sequence similarity 126 gene, member A gene (FAM126A, 610531.0001);

Prefixed ID : #610532;

Détails

Origin ID

610532;

UMLS CUI

C1864663;

Currated CISMeF NLP mapping
- Hypomyelination and congenital cataract (disorder) [SNOMED CT concept]
- Hypomyelination-congenital cataract syndrome [ORDO Disease]
- hypomyelinating leukodystrophy 5 [DO Concept]
- leukodystrophy, hypomyelinating, 5 [MeSH concept]
- leukodystrophy, hypomyelinating, 5 [MeSH Supplementary Concept]
DO Cross reference
- hypomyelinating leukodystrophy 5 [DO Concept]
Genes related to phenotype
- Hyccin, pi4ka lipid kinase complex, subunit 1 [OMIM gene]
HPO term(s)
- Abnormal cerebellum morphology [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Cerebral white matter atrophy [HPO term]
- Decreased motor nerve conduction velocity [HPO term]
- Developmental cataract [HPO term]
- Dysarthria [HPO term]
- Global developmental delay [HPO term]
- Hyperreflexia [HPO term]
- Inability to walk [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Intention tremor [HPO term]
- Leukodystrophy [HPO term]
- Loss of ability to walk [HPO term]
- Lower limb amyotrophy [HPO term]
- Lower limb muscle weakness [HPO term]
- Motor delay [HPO term]
- Onion bulb formation [HPO term]
- Polyneuropathy [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Truncal titubation [HPO term]
- Variable expressivity [HPO term]
- Weakness [HPO term]
ORDO concept(s)
- Hypomyelination-congenital cataract syndrome [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hypomyelination and congenital cataract (disorder) [SNOMED CT concept]
- Hypomyelination-congenital cataract syndrome [ORDO Disease]
- hypomyelinating leukodystrophy 5 [DO Concept]
- leukodystrophy, hypomyelinating, 5 [MeSH Supplementary Concept]
- leukodystrophy, hypomyelinating, 5 [MeSH concept]

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