CLN11 disease

General Information (adopted from Orphanet):

Synonyms, Signs: CLN11
Number of Symptoms 13
OrphanetNr: 314629
OMIM Id: 614706
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: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Adult 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:0000556) Retinal dystrophy 65 / 7739
3
 (HPO:0000505) Visual impairment 297 / 7739
4
 (HPO:0000529) Progressive visual loss 54 / 7739
5
 (HPO:0001268) Mental deterioration rare [HPO:skoehler] 88 / 7739
6
 (HPO:0002353) EEG abnormality 188 / 7739
7
 (HPO:0001251) Ataxia 413 / 7739
8
 (HPO:0001250) Seizures 1245 / 7739
9
 (HPO:0002123) Generalized myoclonic seizures 62 / 7739
10
 (HPO:0003208) Fingerprint intracellular accumulation of autofluorescent lipopigment storage material 8 / 7739
11
 (HPO:0001272) Cerebellar atrophy 197 / 7739
12
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
13
 (HPO:0003678) Rapidly progressive 33 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Neuronal ceroid lipofuscinosis-11 is an autosomal recessive neurologic disorder characterized by rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy. Cognitive decline may also occur (summary by Smith et al., 2012).

...
Clinical Description OMIM Smith et al. (2012) reported 2 Italian sibs with young-adult onset of neuronal ceroid lipofuscinosis. Their healthy parents, who were in their fifties, came from nearby villages in Lombardy, Italy, and were demonstrated to be distantly related. The ...
Molecular genetics OMIM By exome sequencing of 2 Italian sibs with young-adult onset of CLN, Smith et al. (2012) identified a homozygous 4-bp deletion in the GRN gene (138945.0015). Heterozygosity for this mutation had previously been identified in patients with late-onset ...