Congenital neuronal ceroid lipofuscinosis

General Information (adopted from Orphanet):

Synonyms, Signs: CEROID LIPOFUSCINOSIS, NEURONAL, CATHEPSIN D-DEFICIENT
NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY NEURONAL CEROID LIPOFUSCINOSIS, CONGENITAL, INCLUDED
CLN10
Congenital NCL
Number of Symptoms 39
OrphanetNr: 168486
OMIM Id: 610127
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: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Neuronal ceroid lipofuscinosis
 -Rare eye disease
 -Rare genetic disease
 -Rare neurologic disease
Progressive myoclonic epilepsy
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
2
 (HPO:0000340) Sloping forehead 86 / 7739
3
 (HPO:0000431) Wide nasal bridge 290 / 7739
4
 (HPO:0005458) Premature closure of fontanelles 3 / 7739
5
 (HPO:0000510) Rod-cone dystrophy 266 / 7739
6
 (HPO:0000529) Progressive visual loss 54 / 7739
7
 (HPO:0000572) Visual loss 272 / 7739
8
 (HPO:0001105) Retinal atrophy 10 / 7739
9
 (HPO:0000369) Low-set ears 372 / 7739
10
 (HPO:0001257) Spasticity 251 / 7739
11
 (HPO:0002063) Rigidity 92 / 7739
12
 (HPO:0001251) Ataxia 413 / 7739
13
 (HPO:0002133) Status epilepticus 59 / 7739
14
 (HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
15
 (HPO:0010864) Intellectual disability, severe 120 / 7739
16
 (HPO:0006887) Intellectual disability, progressive 68 / 7739
17
 (HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
18
 (HPO:0002093) Respiratory insufficiency Very frequent [Orphanet] 410 / 7739
19
 (HPO:0002104) Apnea 106 / 7739
20
 (HPO:0002878) Respiratory failure 57 / 7739
21
 (OMIM) Autofluorescent lipopigment in neurons 11 / 7739
22
 (OMIM) MRI shows cerebellar atrophy 2 / 7739
23
 (OMIM) Granular osmiophilic cytoplasmic deposits in Schwann cells 2 / 7739
24
 (OMIM) Some patients may show normal early development 2 / 7739
25
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
26
 (HPO:0003577) Congenital onset 133 / 7739
27
 (OMIM) Overriding sutures 2 / 7739
28
 (HPO:0001522) Death in infancy Very frequent [Orphanet] 275 / 7739
29
 (HPO:0002059) Cerebral atrophy 171 / 7739
30
 (OMIM) Myelin-like lamellar structures in Schwann cells 2 / 7739
31
 (OMIM) White matter lacks axons and myelin 2 / 7739
32
 (OMIM) Loss of motor function 3 / 7739
33
 (OMIM) MRI shows cerebral atrophy 2 / 7739
34
 (HPO:0001272) Cerebellar atrophy 197 / 7739
35
 (HPO:0002529) Neuronal loss in central nervous system 37 / 7739
36
 (HPO:0002074) Increased neuronal autofluorescent lipopigment 10 / 7739
37
 (OMIM) Decrease or absence of cathepsin D (CTSD) protein immunostaining 2 / 7739
38
 (OMIM) Neuronal loss in the cerebrum and cerebellum 2 / 7739
39
 (OMIM) Glial activation 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM For a general phenotypic description and a discussion of genetic heterogeneity of neuronal ceroid lipofuscinosis (NCL; CLN), see CLN1 (256730).

Various forms of CLN are characterized by developmental regression, visual loss, and epilepsy in addition to ...
Genotype-Phenotype Correlations OMIM In a Pakistani infant with severe congenital NCL, Siintola et al. (2006) identified a homozygous null mutation in the CTSD gene (116840.0003). The extreme clinical phenotype, including postnatal apnea, seizures, and early death, were consistent with complete inactivation ...
Molecular genetics OMIM In a patient with cathepsin D deficiency manifesting as a CLN-like disorder, Steinfeld et al. (2006) identified compound heterozygosity for missense mutations in the CTSD gene. The maternal allele carried a phe229-to-ile substitution (F229I; 116840.0001), and the paternal ...