Neuronal ceroid lipofuscinosis 1
- Synonyms
- Adult CLN (type of CLN1); CEROID LIPOFUSCINOSIS, NEURONAL, 1, VARIABLE AGE AT ONSET; CLN1 Disease; CLN1 variable age at onset; Classic late infantile CLN (type of CLN1); Infantile CLN (type of CLN1); Juvenile CLN (type of CLN1); PPT1-Related Neuronal Ceroid-Lipofuscinosis
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (99 available)
Biochemical Genetics Tests
Genes See tests for all associated and related genes
Also known as: CLN1, INCL, PPT, PPT1
Summary: palmitoyl-protein thioesterase 1
Clinical features
Help- Abnormality of metabolism/homeostasis
- Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis
- MedGen UID: 867398
- Concept ID: C4021768
- Finding: Finding
Abnormality of metabolism/homeostasis
- Reduced tissue palmitoyl-protein thioesterase activity
Reduced tissue palmitoyl-protein thioesterase activity
- MedGen UID: 1053544
- Concept ID: CN377932
- Finding: Finding
Abnormality of metabolism/homeostasis
- Abnormality of metabolism/homeostasis
- Abnormality of the cardiovascular system
- Vascular granular osmiophilic material deposition
Vascular granular osmiophilic material deposition
- MedGen UID: 348472
- Concept ID: C1859833
- Finding: Finding
Abnormality of the cardiovascular system
- Vascular granular osmiophilic material deposition
- Abnormality of the eye
- Blindness
Blindness
- MedGen UID: 99138
- Concept ID: C0456909
- Finding: Disease or Syndrome
Abnormality of the eye
- Decreased light- and dark-adapted electroretinogram amplitude
Decreased light- and dark-adapted electroretinogram amplitude
- MedGen UID: 326793
- Concept ID: C1839025
- Finding: Finding
Abnormality of the eye
- Macular degeneration
Macular degeneration
- MedGen UID: 7434
- Concept ID: C0024437
- Finding: Disease or Syndrome
Abnormality of the eye
- Optic atrophy
Optic atrophy
- MedGen UID: 18180
- Concept ID: C0029124
- Finding: Disease or Syndrome
Abnormality of the eye
- Progressive visual loss
Progressive visual loss
- MedGen UID: 326867
- Concept ID: C1839364
- Finding: Finding
Abnormality of the eye
- Retinal degeneration
Retinal degeneration
- MedGen UID: 48432
- Concept ID: C0035304
- Finding: Finding
Abnormality of the eye
- Undetectable electroretinogram
Undetectable electroretinogram
- MedGen UID: 383742
- Concept ID: C1855685
- Finding: Finding
Abnormality of the eye
- Blindness
- Abnormality of the immune system
- Vacuolated lymphocytes
Vacuolated lymphocytes
- MedGen UID: 332307
- Concept ID: C1836855
- Finding: Finding
Abnormality of the immune system
- Vacuolated lymphocytes
- Abnormality of the musculoskeletal system
- Flexion contracture
Flexion contracture
- MedGen UID: 83069
- Concept ID: C0333068
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Generalized hypotonia
Generalized hypotonia
- MedGen UID: 346841
- Concept ID: C1858120
- Finding: Finding
Abnormality of the musculoskeletal system
- Hypotonia
Hypotonia
- MedGen UID: 10133
- Concept ID: C0026827
- Finding: Finding
Abnormality of the musculoskeletal system
- Progressive microcephaly
Progressive microcephaly
- MedGen UID: 340542
- Concept ID: C1850456
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Secondary microcephaly
Secondary microcephaly
- MedGen UID: 608952
- Concept ID: C0431352
- Finding: Finding
Abnormality of the musculoskeletal system
- Flexion contracture
- Abnormality of the nervous system
- Cerebellar ataxia
Cerebellar ataxia
- MedGen UID: 849
- Concept ID: C0007758
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Cerebral atrophy
Cerebral atrophy
- MedGen UID: 116012
- Concept ID: C0235946
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Depression
Depression
- MedGen UID: 4229
- Concept ID: C0011581
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- EEG abnormality
EEG abnormality
- MedGen UID: 56235
- Concept ID: C0151611
- Finding: Finding
Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
Abnormality of the nervous system
- Hallucinations
Hallucinations
- MedGen UID: 6709
- Concept ID: C0018524
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Increased neuronal autofluorescent lipopigment
Increased neuronal autofluorescent lipopigment
- MedGen UID: 892355
- Concept ID: C4025728
- Finding: Finding
Abnormality of the nervous system
- Intellectual disability
Intellectual disability
- MedGen UID: 811461
- Concept ID: C3714756
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Irritability
Irritability
- MedGen UID: 397841
- Concept ID: C2700617
- Finding: Mental Process
Abnormality of the nervous system
- Loss of speech
Loss of speech
- MedGen UID: 107445
- Concept ID: C0542223
- Finding: Finding
Abnormality of the nervous system
- Myoclonus
Myoclonus
- MedGen UID: 10234
- Concept ID: C0027066
- Finding: Finding
Abnormality of the nervous system
- Psychomotor deterioration
Psychomotor deterioration
- MedGen UID: 373191
- Concept ID: C1836842
- Finding: Finding
Abnormality of the nervous system
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Sleep abnormality
Sleep abnormality
- MedGen UID: 52372
- Concept ID: C0037317
- Finding: Finding
Abnormality of the nervous system
- Spasticity
Spasticity
- MedGen UID: 7753
- Concept ID: C0026838
- Finding: Sign or Symptom
Abnormality of the nervous system
- Cerebellar ataxia
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.