Ceroid lipofuscinosis, neuronal, 9

Preferred Label : Ceroid lipofuscinosis, neuronal, 9;

Symbol : CLN9;

CISMeF acronym : CLN9;

Type : Phenotype or locus, molecular basis unknown;

Description : For a phenotypic description and a discussion of genetic heterogeneity of neuronal ceroid lipofuscinosis (CLN), see CLN1 (256730).;

Inheritance : Autosomal recessive;

Laboratory abnormalities : Fibroblasts are small and rounded with prominent nucleoli; Fibroblasts attach poorly; Fibroblasts show increased sensitivity to apoptosis; Fibroblasts demonstrate rapid growth with increased DNA synthesis; 'Curvilinear profiles' ultrastructurally in cells; 'Fingerprint profiles' ultrastructurally in cells; Fibroblasts have increased activity of serine palmitoyltransferase (SPT, 605712); Fibroblasts have decreased levels of ceramide, sphingomyelin, lactosylceramide, ceramide trihexoside, and globoside;

Prefixed ID : %609055;

Details

Origin ID

609055;

UMLS CUI

C1836841;

Currated CISMeF NLP mapping
- Ceroid lipofuscinosis, neuronal 9 [MeSH concept]
- ceroid lipofuscinosis, neuronal 9 [MeSH Supplementary Concept]
- neuronal ceroid lipofuscinosis 9 [DO Concept]
DO Cross reference
- neuronal ceroid lipofuscinosis 9 [DO Concept]
HPO term(s)
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebral atrophy [HPO term]
- Curvilinear intracellular accumulation of autofluorescent lipopigment storage material [HPO term]
- Death in childhood [HPO term]
- Decreased light- and dark-adapted electroretinogram amplitude [HPO term]
- Dysarthria [HPO term]
- Early death [HPO term]
- Fingerprint intracellular accumulation of autofluorescent lipopigment storage material [HPO term]
- Intellectual disability [HPO term]
- Loss of ambulation [HPO term]
- Mutism [HPO term]
- Optic atrophy [HPO term]
- Progressive visual loss [HPO term]
- Progressive visual loss (4 to 10 years) [HPO term]
- Psychomotor deterioration [HPO term]
- Rigidity [HPO term]
- Rod-cone dystrophy [HPO term]
- Scanning speech [HPO term]
- Seizure [HPO term]
- Vacuolated lymphocytes [HPO term]
ORDO concept(s)
- CLN9 disease [ORDO Disease]
- Juvenile neuronal ceroid lipofuscinosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- CLN9 disease [ORDO Disease]
- Ceroid lipofuscinosis, neuronal 9 [MeSH concept]
- ceroid lipofuscinosis, neuronal 9 [MeSH Supplementary Concept]
- neuronal ceroid lipofuscinosis 9 [DO Concept]

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