Niemann-Pick disease type C
General Information (adopted from Orphanet):
| Synonyms, Signs: |
|
| Number of Symptoms | 50 |
| OrphanetNr: | 646 |
| OMIM Id: |
257220
607625 |
| ICD-10: |
E75.2 |
| UMLs: |
C0220756 |
| MeSH: |
D052556 |
| MedDRA: |
|
| Snomed: |
66751000 |
Prevalence, inheritance and age of onset:
| Prevalence: | 1 of 100 000 [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
All ages [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Cerebral lipidosis with dementia
-Rare genetic disease -Rare neurologic disease Genetic neurodegenerative disease -Rare genetic disease Lipid storage disease -Rare genetic disease Neurometabolic disease -Rare genetic disease -Rare neurologic disease Rare neurodegenerative disease -Rare neurologic disease Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease -Rare respiratory disease Sphingolipidosis with epilepsy -Rare neurologic disease Supranuclear oculomotor palsy -Rare eye disease -Rare genetic disease Unclassified primitive or secondary maculopathy -Rare eye disease -Rare genetic disease |
Symptom Information:
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(HPO:0000643) | Blepharospasm | Very frequent [Orphanet] | 20 / 7739 | |||
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(HPO:0000473) | Torticollis | Very frequent [Orphanet] | 42 / 7739 | |||
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(HPO:0002321) | Vertigo | Very frequent [Orphanet] | 58 / 7739 | |||
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(HPO:0007256) | Abnormal pyramidal signs | Occasional [Orphanet] | 116 / 7739 | |||
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(HPO:0001337) | Tremor | Occasional [Orphanet] | 200 / 7739 | |||
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(HPO:0002072) | Chorea | Occasional [Orphanet] | 53 / 7739 | |||
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(HPO:0000726) | Dementia | Very frequent [Orphanet] | 131 / 7739 | |||
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(HPO:0001270) | Motor delay | Very frequent [Orphanet] | 322 / 7739 | |||
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(HPO:0001251) | Ataxia | Very frequent [Orphanet] hallmark [HPO] | 413 / 7739 | |||
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(HPO:0001249) | Intellectual disability | Very frequent [Orphanet] | 1089 / 7739 | |||
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(HPO:0001328) | Specific learning disability | Very frequent [Orphanet] | 114 / 7739 | |||
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(HPO:0002311) | Incoordination | Very frequent [Orphanet] | 84 / 7739 | |||
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(HPO:0001332) | Dystonia | Very frequent [Orphanet] | 197 / 7739 | |||
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(HPO:0001266) | Choreoathetosis | Occasional [Orphanet] | 57 / 7739 | |||
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(HPO:0010529) | Echolalia | Frequent [Orphanet] | 20 / 7739 | |||
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(HPO:0002356) | Writer's cramp | Very frequent [Orphanet] | 16 / 7739 | |||
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(HPO:0002133) | Status epilepticus | Occasional [Orphanet] | 59 / 7739 | |||
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(HPO:0002305) | Athetosis | Occasional [Orphanet] | 31 / 7739 | |||
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(HPO:0002167) | Neurological speech impairment | Frequent [Orphanet] | 308 / 7739 | |||
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(HPO:0002357) | Dysphasia | Frequent [Orphanet] | 33 / 7739 | |||
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(HPO:0001263) | Global developmental delay | Very frequent [Orphanet] | 853 / 7739 | |||
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(HPO:0002376) | Developmental regression | Very frequent [Orphanet] | 74 / 7739 | |||
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(HPO:0001250) | Seizures | Occasional [Orphanet] | 1245 / 7739 | |||
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(HPO:0011097) | Epileptic spasms | Occasional [Orphanet] | 45 / 7739 | |||
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(HPO:0002360) | Sleep disturbance | Frequent [Orphanet] | 113 / 7739 | |||
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(HPO:0002066) | Gait ataxia | Very frequent [Orphanet] hallmark [HPO] | 327 / 7739 | |||
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(HPO:0001288) | Gait disturbance | Very frequent [Orphanet] | 318 / 7739 | |||
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(HPO:0002015) | Dysphagia | Frequent [Orphanet] | 301 / 7739 | |||
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(HPO:0011147) | Typical absence seizures | Occasional [Orphanet] | 33 / 7739 | |||
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(HPO:0000708) | Behavioral abnormality | Frequent [Orphanet] | 212 / 7739 | |||
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(HPO:0002121) | Absence seizures | Occasional [Orphanet] | 62 / 7739 | |||
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(HPO:0001268) | Mental deterioration | Very frequent [Orphanet] hallmark [HPO] | 88 / 7739 | |||
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(HPO:0002381) | Aphasia | Frequent [Orphanet] | 27 / 7739 | |||
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(HPO:0002300) | Mutism | Frequent [Orphanet] | 28 / 7739 | |||
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(HPO:0002361) | Psychomotor deterioration | Very frequent [Orphanet] hallmark [HPO] | 26 / 7739 | |||
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(HPO:0002141) | Gait imbalance | Very frequent [Orphanet] | 55 / 7739 | |||
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(HPO:0001396) | Cholestasis | Very frequent [Orphanet] | 136 / 7739 | |||
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(HPO:0002240) | Hepatomegaly | Very frequent [Orphanet] | 467 / 7739 | |||
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(HPO:0002611) | Cholestatic liver disease | Very frequent [Orphanet] | 19 / 7739 | |||
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(HPO:0002033) | Poor suck | Frequent [Orphanet] | 37 / 7739 | |||
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(HPO:0012115) | Hepatitis | Very frequent [Orphanet] | 24 / 7739 | |||
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(HPO:0009023) | Abdominal wall muscle weakness | Frequent [Orphanet] | 12 / 7739 | |||
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(HPO:0001541) | Ascites | Occasional [Orphanet] | 94 / 7739 | |||
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(HPO:0005247) | Hypoplasia of the abdominal wall musculature | Frequent [Orphanet] typical [HPO] | 4 / 7739 | |||
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(HPO:0005199) | Aplasia of the abdominal wall musculature | Frequent [Orphanet] typical [HPO] | 5 / 7739 | |||
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(HPO:0000952) | Jaundice | Very frequent [Orphanet] | 105 / 7739 | |||
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(HPO:0010318) | Aplasia/Hypoplasia of the abdominal wall musculature | Frequent [Orphanet] | 55 / 7739 | |||
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(HPO:0001744) | Splenomegaly | Frequent [Orphanet] | 337 / 7739 | |||
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(HPO:0008872) | Feeding difficulties in infancy | Frequent [Orphanet] | 153 / 7739 | |||
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(Orphanet:43190) | [DEL]Motor deficit/trouble | Frequent [Orphanet] | 6 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|