CLN5 disease

General Information (adopted from Orphanet):

Synonyms, Signs: CEROID LIPOFUSCINOSIS, NEURONAL, 5, VARIABLE AGE AT ONSET NEURONAL CEROID LIPOFUSCINOSIS, LATE INFANTILE, FINNISH VARIANT, INCLUDED
CLN5
FINNISH vLINCL, INCLUDED
Number of Symptoms 23
OrphanetNr: 228360
OMIM Id: 256731
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: 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:0000546) Retinal degeneration 61 / 7739
3
 (HPO:0000639) Nystagmus rare [HPO:skoehler] 555 / 7739
4
 (HPO:0002075) Dysdiadochokinesis rare [HPO:skoehler] 40 / 7739
5
 (HPO:0001260) Dysarthria rare [HPO:skoehler] 329 / 7739
6
 (HPO:0001336) Myoclonus 115 / 7739
7
 (HPO:0001250) Seizures 1245 / 7739
8
 (HPO:0001311) Abnormal nervous system electrophysiology 4 / 7739
9
 (HPO:0002312) Clumsiness 28 / 7739
10
 (HPO:0001251) Ataxia 413 / 7739
11
 (HPO:0001310) Dysmetria rare [HPO:skoehler] 76 / 7739
12
 (HPO:0001249) Intellectual disability 1089 / 7739
13
 (HPO:0002333) Motor deterioration 7 / 7739
14
 (HPO:0002376) Developmental regression 74 / 7739
15
 (HPO:0003208) Fingerprint intracellular accumulation of autofluorescent lipopigment storage material 8 / 7739
16
 (HPO:0003205) Curvilinear intracellular accumulation of autofluorescent lipopigment storage material 10 / 7739
17
 (HPO:0003226) Rectilinear intracellular accumulation of autofluorescent lipopigment storage material 3 / 7739
18
 (OMIM) Characteristic findings on MRI 1 / 7739
19
 (OMIM) Autofluorescent lipopigment in neurons 11 / 7739
20
 (OMIM) Concentration difficulties 1 / 7739
21
 (HPO:0002074) Increased neuronal autofluorescent lipopigment 10 / 7739
22
 (HPO:0001272) Cerebellar atrophy rare [HPO:skoehler] 197 / 7739
23
 (HPO:0000007) Autosomal recessive inheritance 2538 / 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 CLN5 ...
Clinical Description OMIM Santavuori et al. (1982, 1991) delineated in Finland a variant late infantile neuronal ceroid lipofuscinosis. The disorder was identified in 18 families whose ancestors formed a single cluster on the west coast of Finland. The clinical features included ...
Molecular genetics OMIM In affected patients with CLN5, Savukoski et al. (1998) identified 3 different mutations in the CLN5 gene (608102.0001-608102.0003).

In 2 Colombian sibs with juvenile-onset CLN5, Pineda-Trujillo et al. (2005) identified a homozygous mutation in the CLN5 ...
Population genetics OMIM By haplotype analysis of Finnish patients with CLN5, Varilo et al. (1996) found that a single haplotype formed by flanking markers D13S160 and D13S162 was present in 81% of disease-bearing chromosomes. They detected allele 4 at the marker ...