CLN4A disease

General Information (adopted from Orphanet):

Synonyms, Signs: CLN4A
Number of Symptoms 24
OrphanetNr: 228340
OMIM Id: 204300
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:0000716) Depression 99 / 7739
2
(HPO:0001251) Ataxia 413 / 7739
3
(HPO:0002071) Abnormality of extrapyramidal motor function 76 / 7739
4
(HPO:0002367) Visual hallucinations 8 / 7739
5
(HPO:0000726) Dementia 131 / 7739
6
(HPO:0008765) Auditory hallucinations 8 / 7739
7
(HPO:0001336) Myoclonus 115 / 7739
8
(HPO:0001250) Seizures 1245 / 7739
9
(HPO:0000708) Behavioral abnormality 212 / 7739
10
(HPO:0003208) Fingerprint intracellular accumulation of autofluorescent lipopigment storage material 8 / 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:0003205) Curvilinear intracellular accumulation of autofluorescent lipopigment storage material 10 / 7739
14
(OMIM) Granular osmiophilic deposits (GROD) in cells resulting in 'Rectilinear' profiles ultrastructurally 1 / 7739
15
(HPO:0002074) Increased neuronal autofluorescent lipopigment 10 / 7739
16
(OMIM) Granular osmiophilic deposits (GROD) in cells resulting in 'fingerprint' profiles ultrastructurally 1 / 7739
17
(OMIM) Leukoencephalopathy on CT and MRI 1 / 7739
18
(HPO:0003581) Adult onset 117 / 7739
19
(HPO:0002352) Leukoencephalopathy 32 / 7739
20
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
21
(OMIM) Autofluorescent lipopigment in neurons 11 / 7739
22
(HPO:0002059) Cerebral atrophy 171 / 7739
23
(OMIM) Granular osmiophilic deposits (GROD) in cells resulting in 'curvilinear' profiles ultrastructurally 1 / 7739
24
(OMIM) Auditory and visual hallucinations 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Adult-onset neuronal ceroid lipofuscinosis, also known as Kufs disease, is a neurodegenerative disorder without retinal involvement. There are 2 overlapping phenotypes: type A, characterized by progressive myoclonic epilepsy, and type B, characterized by dementia and a variety of ...
Clinical Description OMIM Kufs (1925) reported a case of adult-onset neuronal ceroid lipofuscinosis with onset at age 26 and death at age 38. Fine et al. (1960) found reports of 18 complete histologic descriptions. Chou and Thompson (1970) reported the morphologic ...
Molecular genetics OMIM By genomewide mapping followed by candidate gene sequencing in 3 families with autosomal recessive Kufs disease, Arsov et al. (2011) identified homozygous or compound heterozygous mutations in the CLN6 gene (see, e.g., 606725.0011-606725.0014). Mutations were also found in ...