Ceroid lipofuscinosis, neuronal, 10

Preferred Label : Ceroid lipofuscinosis, neuronal, 10;

Symbol : CLN10;

CISMeF acronym : CLN10;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ceroid lipofuscinosis, neuronal, cathepsin D-deficient; Neuronal ceroid lipofuscinosis due to cathepsin D deficiency;

Included titles and symbols : Neuronal ceroid lipofuscinosis, congenital;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the cathepsin D gene (CTSD, 116840.0001);

Laboratory abnormalities : Decrease or absence of cathepsin D (CTSD) protein immunostaining;

Prefixed ID : #610127;

Details

Origin ID

610127;

UMLS CUI

C1864669;

Automatic exact mappings (from CISMeF team)
- cathepsin D [HGNC gene]
- cathepsin D [ORDO Gene]
Currated CISMeF NLP mapping
- CLN10 disease [ORDO Disease]
- Congenital neuronal ceroid lipofuscinosis [ORDO Disease]
- Deficiency of cathepsin D (disorder) [SNOMED CT concept]
- Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D (disorder) [SNOMED CT concept]
- Neuronal ceroid lipofuscinosis type 10 [ICD-11 More detail]
- cathepsin D deficiency [Disease (Nov.)]
- ceroid lipofuscinosis, neuronal, 10 [MeSH concept]
- ceroid lipofuscinosis, neuronal, 10 [MeSH Supplementary Concept]
- neuronal ceroid lipofuscinosis 10 [DO Concept]
- neuronal ceroid lipofuscinosis, congenital [MeSH concept]
DO Cross reference
- neuronal ceroid lipofuscinosis 10 [DO Concept]
Genes related to phenotype
- Cathepsin D [OMIM gene]
HPO term(s)
- Apnea [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral atrophy [HPO term]
- Childhood onset [HPO term]
- Congenital onset [HPO term]
- Early death [HPO term]
- Granular osmiophilic deposits (GROD) in cells [HPO term]
- Increased neuronal autofluorescent lipopigment [HPO term]
- Intellectual disability, progressive [HPO term]
- Intellectual disability, severe [HPO term]
- Low-set ears [HPO term]
- Mental deterioration [HPO term]
- Microcephaly [HPO term]
- Myoclonic seizure [HPO term]
- Neonatal death [HPO term]
- Neuronal loss [HPO term]
- Neuronal loss in central nervous system [HPO term]
- Premature closure of fontanelles [HPO term]
- Respiratory failure [HPO term]
- Respiratory insufficiency [HPO term]
- Retinal atrophy [HPO term]
- Rigidity [HPO term]
- Rod-cone dystrophy [HPO term]
- Seizure [HPO term]
- Sensory axonal neuropathy [HPO term]
- Sloping forehead [HPO term]
- Spasticity [HPO term]
- Split hand [HPO term]
- Status epilepticus [HPO term]
- Visual loss [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Adult neuronal ceroid lipofuscinosis [ORDO Disease]
- CLN10 disease [ORDO Disease]
- Congenital neuronal ceroid lipofuscinosis [ORDO Disease]
- Juvenile neuronal ceroid lipofuscinosis [ORDO Disease]
- Late infantile neuronal ceroid lipofuscinosis [ORDO Disease]
See also inter- (CISMeF)
- Congenital neuronal ceroid lipofuscinosis [ICD-11 More detail]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- CLN10 disease [ORDO Disease]
- Congenital neuronal ceroid lipofuscinosis [ICD-11 More detail]
- Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D (disorder) [SNOMED CT concept]
- Neuronal ceroid lipofuscinosis type 10 [ICD-11 More detail]
- ceroid lipofuscinosis, neuronal, 10 [MeSH Supplementary Concept]
- ceroid lipofuscinosis, neuronal, 10 [MeSH concept]
- neuronal ceroid lipofuscinosis 10 [DO Concept]

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