CLN9 disease

General Information (adopted from Orphanet):

Synonyms, Signs: CLN9
Number of Symptoms 29
OrphanetNr: 228357
OMIM Id: 609055
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: Juvenile neuronal ceroid lipofuscinosis
 -Rare eye disease
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0000654) Decreased light- and dark-adapted electroretinogram amplitude 17 / 7739
2
(HPO:0000648) Optic atrophy 238 / 7739
3
(HPO:0000510) Rod-cone dystrophy 266 / 7739
4
(HPO:0000529) Progressive visual loss 54 / 7739
5
(HPO:0002505) Progressive inability to walk 2 / 7739
6
(HPO:0001251) Ataxia 413 / 7739
7
(HPO:0001249) Intellectual disability 1089 / 7739
8
(HPO:0001260) Dysarthria 329 / 7739
9
(HPO:0002300) Mutism 28 / 7739
10
(HPO:0002361) Psychomotor deterioration 26 / 7739
11
(HPO:0001250) Seizures 1245 / 7739
12
(HPO:0002168) Scanning speech 10 / 7739
13
(HPO:0002063) Rigidity 92 / 7739
14
(HPO:0001922) Vacuolated lymphocytes 13 / 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:0002059) Cerebral atrophy 171 / 7739
18
(OMIM) Fibroblasts demonstrate rapid growth with increased DNA synthesis 1 / 7739
19
(OMIM) Early death 13 / 7739
20
(OMIM) EEG is slowed with polyspike wave discharges 1 / 7739
21
(OMIM) Fibroblasts attach poorly 1 / 7739
22
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
23
(OMIM) Fibroblasts have increased activity of serine palmitoyltransferase (SPT, 605712) 1 / 7739
24
(OMIM) Apoptotic neurons 1 / 7739
25
(OMIM) Fibroblasts are small and rounded with prominent nucleoli 1 / 7739
26
(HPO:0003819) Death in childhood 42 / 7739
27
(OMIM) 'Ballooned' neurons with autofluorescent fine granular material 1 / 7739
28
(OMIM) Fibroblasts have decreased levels of ceramide, sphingomyelin, lactosylceramide, ceramide trihexoside, and globoside 1 / 7739
29
(OMIM) Fibroblasts show increased sensitivity to apoptosis 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Schulz et al. (2004) described a ninth variant of juvenile-onset neuronal ceroid lipofuscinosis in 2 Serbian sisters and 2 German brothers. The sisters, whose great-grandmothers came from adjacent villages, developed declining vision, progressive ataxia, and seizures by age ...