CLN8 disease

General Information (adopted from Orphanet):

Synonyms, Signs: CLN8
Number of Symptoms 14
OrphanetNr: 228354
OMIM Id: 600143
ICD-10: E75.4
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Juvenile neuronal ceroid lipofuscinosis
 -Rare eye disease
 -Rare genetic disease
 -Rare neurologic disease
Late infantile neuronal ceroid lipofuscinosis
 -Rare eye disease
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000529) Progressive visual loss 54 / 7739
2
 (HPO:0002353) EEG abnormality 188 / 7739
3
 (HPO:0000750) Delayed speech and language development 197 / 7739
4
 (HPO:0001336) Myoclonus 115 / 7739
5
 (HPO:0001250) Seizures 1245 / 7739
6
 (HPO:0002376) Developmental regression 74 / 7739
7
 (HPO:0001251) Ataxia 413 / 7739
8
 (HPO:0003205) Curvilinear intracellular accumulation of autofluorescent lipopigment storage material 10 / 7739
9
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
10
 (HPO:0002074) Increased neuronal autofluorescent lipopigment 10 / 7739
11
 (OMIM) Autofluorescent lipopigment in neurons 11 / 7739
12
 (OMIM) Intracellular fingerprint profiles on ultrastructural analysis 1 / 7739
13
 (HPO:0001272) Cerebellar atrophy 197 / 7739
14
 (HPO:0002059) Cerebral atrophy 171 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The lipopigment patterns observed most often in CLN8 ...
Clinical Description OMIM Wheeler et al. (1999) reported 6 Turkish families with a phenotype similar to that of other forms of late-onset infantile CLN (see, e.g., CLN2, 204500; CLN5, 256731; CLN6, 601780), but who did not map to any known CLN ...
Molecular genetics OMIM Ranta et al. (2004) identified 4 homozygous mutations in the CLN8 gene (see, e.g., 607837.0002-607837.0004) in affected members of 9 families with the so-called Turkish variant of late-infantile CLN, 4 of whom were reported by Wheeler et al. ...