CLN7 disease

General Information (adopted from Orphanet):

Synonyms, Signs: CLN7
Number of Symptoms 24
OrphanetNr: 228366
OMIM Id: 610951
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:0000648) Optic atrophy 238 / 7739
2
 (HPO:0000529) Progressive visual loss 54 / 7739
3
 (HPO:0000580) Pigmentary retinopathy 49 / 7739
4
 (HPO:0000488) Retinopathy 75 / 7739
5
 (HPO:0000618) Blindness 124 / 7739
6
 (HPO:0000572) Visual loss 272 / 7739
7
 (HPO:0001263) Global developmental delay 853 / 7739
8
 (HPO:0001268) Mental deterioration 88 / 7739
9
 (HPO:0002360) Sleep disturbance 113 / 7739
10
 (HPO:0002123) Generalized myoclonic seizures 62 / 7739
11
 (HPO:0002353) EEG abnormality 188 / 7739
12
 (HPO:0001251) Ataxia 413 / 7739
13
 (HPO:0000750) Delayed speech and language development 197 / 7739
14
 (OMIM) Refractory seizures 15 / 7739
15
 (HPO:0003621) Juvenile onset 105 / 7739
16
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
17
 (HPO:0003678) Rapidly progressive 33 / 7739
18
 (HPO:0002059) Cerebral atrophy 171 / 7739
19
 (OMIM) Intracellular accumulation of material resulting in rectilinear profiles on ultrastructural analysis 1 / 7739
20
 (OMIM) Intracellular accumulation of material resulting in curvilinear profiles on ultrastructural analysis 1 / 7739
21
 (OMIM) Cognitive decline, rapid 1 / 7739
22
 (OMIM) Intracellular accumulation of material resulting in fingerprint profiles on ultrastructural analysis 1 / 7739
23
 (HPO:0001272) Cerebellar atrophy 197 / 7739
24
 (HPO:0002180) Neurodegeneration 31 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The neuronal ceroid lipofuscinoses (NCL, or 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 (Mole et al., 2005).

For ...
Clinical Description OMIM Topcu et al. (2004) reported the so-called Turkish variant of late-infantile CLN in 17 of 28 Turkish patients. Most of the families were consanguineous. The mean age at disease onset was 5.1 years (range, 2 to 7 years), ...
Molecular genetics OMIM In 6 families with vLINCL, 5 of them Turkish families reported by Topcu et al. (2004), Siintola et al. (2007) identified 6 different mutations in the MFSD8 gene (611124), which belongs to the major facilitator superfamily of transporter ...
Population genetics OMIM Kousi et al. (2009) identified a homozygous mutation in the MFSD8 gene (T294K; 611124.0006) in 14 Roma patients from 12 families with CLN7 from the former Czechoslovakia. The phenotype was characterized by late-infantile onset, developmental regression, seizures, visual ...