Juvenile parkinsonism with intellectual deficit due to DNAJC6 deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: PARK19
Number of Symptoms 16
OrphanetNr: 352497
OMIM Id: 615528
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: autosomal recessive
Autosomal recessive inheritance
[Omim]
Age of onset: Childhood
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000571) Hypometric saccades rare [HPO:skoehler] 10 / 7739
2
(HPO:0001250) Seizures rare [HPO:skoehler] 1245 / 7739
3
(HPO:0002362) Shuffling gait 13 / 7739
4
(HPO:0001332) Dystonia rare [HPO:skoehler] 197 / 7739
5
(HPO:0002172) Postural instability 22 / 7739
6
(HPO:0002067) Bradykinesia 62 / 7739
7
(HPO:0001300) Parkinsonism 75 / 7739
8
(HPO:0001260) Dysarthria 329 / 7739
9
(HPO:0001337) Tremor 200 / 7739
10
(HPO:0007256) Abnormal pyramidal signs rare [HPO:skoehler] 116 / 7739
11
(HPO:0001249) Intellectual disability rare [HPO:skoehler] 1089 / 7739
12
(HPO:0002063) Rigidity 92 / 7739
13
(HPO:0001327) Photomyoclonic seizures 125 / 7739
14
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
15
(MedDRA:10026863) Masked facies 8 / 7739
16
(HPO:0003678) Rapidly progressive 33 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Parkinson disease-19 is an autosomal recessive neurodegenerative disorder characterized by onset of parkinsonism in the first or second decade. Some patients may have additional neurologic features, including mental retardation and seizures (summary by Edvardson et al., 2012 and ...
Clinical Description OMIM Edvardson et al. (2012) reported 2 brothers, born of Arab-Muslim parents of Palestinian origin, with juvenile-onset Parkinson disease. Both had normal early psychomotor development, but showed motor symptoms consistent with Parkinson disease at ages 11 and 7, respectively. ...
Molecular genetics OMIM In 2 brothers, born of consanguineous Palestinian parents, with juvenile-onset Parkinson disease, Edvardson et al. (2012) identified a homozygous loss-of-function mutation in the DNAJC6 gene (608375.0001). The mutation was found by homozygosity mapping combined with whole-exome sequencing. Because ...