ORPHA:228349

CLN2 disease

Synonyms: NCL2 · Neuronal ceroid lipofuscinosis type 2

Type: Disease
Group: Disorder
Inheritance: Autosomal recessive
Age of onset: Infancy
Status: active

A rare neuronal ceroid lipofuscinosis characterized by neurodevelopmental delay, impaired motor and language skills, progressive dementia, visual deterioration, extrapyramidal signs, progressive gait dysfunction, seizures and brain atrophy. It may present rarely with infantile (2-18 months), classically late infantile (2-4 years) and juvenile-onset (6-10 years). Infantile-onset and late infantile-onset patients are reported to have rapid disease progression leading to complete loss of motor function within 6 years and may be fatal, whereas juvenile onset patients were reported to have milder clinical features including mild learning disability, behavior abnormalities associated with dementia and progressive cognitive function regression. Extrapyramidal, cerebellar signs, retinal degeneration and vision loss may be observed later in the adulthood. This form is most frequently observed in Southern Europe.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	CLN2 disease	NCL2 · Neuronal ceroid lipofuscinosis type 2
fr	Maladie CLN2	Céroïde lipofuscinose neuronale de type 2 · NCL2
de	CLN2-Krankheit	Ceroid-Lipofuszinose, neuronale, Typ 2 · NCL2
es	Enfermedad CLN2	Lipofuscinosis ceroidea neuronal tipo 2 · NCL2
it	Malattia CLN2	Ceroidolipofuscinosi neuronale tipo 2
nl	CLN2-ziekte	NCL2 · Neuronale ceroïdlipofuscinose type 2
pt	Doença CLN2	Lipofuscinose ceróide neuronal tipo 2 · NCL2
pl	Choroba CLN2	= en
cs	Neuronální ceroidlipofuscinosa, typ 2	Onemocnění CLN2
uk	Хвороба CLN2	Нейрональний цероїдний ліпофусциноз типу 2
zh	神经元蜡样脂褐质沉积症2型	典型婴儿晚期神经元蜡样脂褐质沉积症
tr	CLN2 hastalığı	Klasik geç infantil NCL · Klasik geç infantil nöronal seroid lipofuksinoz

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	204500	E		validated
ICD-10	E75.4	NTBT	attributed	validated
ICD-11	5C56.1	NTBT	attributed	validated
MONDO	8769	E		validated
UMLS	C5679830	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:98006Rare neurologic disease

Parents in the classifications (2):

ORPHA:216Neuronal ceroid lipofuscinosis
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases; rare ophthalmic disorders
ORPHA:98261Progressive myoclonic epilepsy
rare genetic diseases; rare neurological diseases

Children (3):

Genes

0 direct · 3 via subtypes

Orphanet records no gene directly on this code.

Recorded by Orphanet on subtypes of this disorder:

Gene	Subtype	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
TPP1	ORPHA:699751Infantile CLN2 disease	Disease-causing germline mutation(s) in	Assessed	HGNC:2073	ENSG00000166340	607998	11p15.4	tripeptidyl peptidase 1	32412666[PMID]_34733232[PMID]
TPP1	ORPHA:699761Late infantile CLN2 disease	Disease-causing germline mutation(s) in	Assessed	HGNC:2073	ENSG00000166340	607998	11p15.4	tripeptidyl peptidase 1	32412666[PMID]_34733232[PMID]
TPP1	ORPHA:699769Juvenile CLN2 disease	Disease-causing germline mutation(s) in	Assessed	HGNC:2073	ENSG00000166340	607998	11p15.4	tripeptidyl peptidase 1	32412666[PMID]_34733232[PMID]

Prevalence and incidence

1 record

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	<1 / 1 000 000	0.07 / 100 000	Worldwide	Value and class	Validated	37059438[PMID]_ORPHANET

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

Sources for this card

Orphanet page: orpha.net/en/disease/detail/228349
This record as JSON: /data/d/228349.json