CLN4B disease

General Information (adopted from Orphanet):

Synonyms, Signs: CEROID LIPOFUSCINOSIS, NEURONAL, PARRY TYPE
KUFS DISEASE, AUTOSOMAL DOMINANT
CLN4B
Number of Symptoms 23
OrphanetNr: 228343
OMIM Id: 162350
ICD-10: E75.4
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[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:0008765) Auditory hallucinations 8 / 7739
2
 (HPO:0002071) Abnormality of extrapyramidal motor function 76 / 7739
3
 (HPO:0001300) Parkinsonism 75 / 7739
4
 (HPO:0000726) Dementia 131 / 7739
5
 (HPO:0000716) Depression 99 / 7739
6
 (HPO:0001250) Seizures 1245 / 7739
7
 (HPO:0000708) Behavioral abnormality 212 / 7739
8
 (HPO:0001336) Myoclonus 115 / 7739
9
 (HPO:0002367) Visual hallucinations 8 / 7739
10
 (HPO:0001251) Ataxia 413 / 7739
11
 (HPO:0003657) Granular osmiophilic deposits (GROD) in cells 3 / 7739
12
 (HPO:0003226) Rectilinear intracellular accumulation of autofluorescent lipopigment storage material 3 / 7739
13
 (HPO:0003208) Fingerprint intracellular accumulation of autofluorescent lipopigment storage material 8 / 7739
14
 (HPO:0003205) Curvilinear intracellular accumulation of autofluorescent lipopigment storage material 10 / 7739
15
 (OMIM) Parkinsonism may occur 1 / 7739
16
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
17
 (HPO:0003581) Adult onset 117 / 7739
18
 (HPO:0002074) Increased neuronal autofluorescent lipopigment 10 / 7739
19
 (OMIM) Auditory and visual hallucinations 2 / 7739
20
 (HPO:0003678) Rapidly progressive 33 / 7739
21
 (OMIM) Speech deterioration 1 / 7739
22
 (HPO:0001317) Abnormality of the cerebellum 36 / 7739
23
 (OMIM) Autofluorescent lipopigment in neurons 11 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The neuronal ceroid lipofuscinoses are a group of progressive neurodegenerative diseases characterized by accumulation of intracellular autofluorescent lipopigment storage material in the brain and other tissues. Several different forms have been described according to age of onset (see, ...
Clinical Description OMIM Boehme et al. (1971) reported a family (named Parry) in which 11 individuals over 4 generations were affected with adult-onset neuronal ceroid lipofuscinosis (NCL) in an autosomal dominant pattern of inheritance. The strikingly consistent clinical picture was onset ...
Molecular genetics OMIM In a Czech family with autosomal dominant adult-onset ceroid neuronal lipofuscinosis-4B, Noskova et al. (2011) identified a heterozygous mutation in the DNAJC5 gene (leu116del; 611203.0001). The mutation was found by using a combination of linkage analysis, copy-number analysis, ...