ODCs

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Perry syndrome

1 OMIM reference -
1 associated gene
52 connected diseases
14 signs/symptoms

Disease	Type of connection
Amyotrophic lateral sclerosis
Distal hereditary motor neuropathy type 7
Bardet-Biedl syndrome
Retinitis pigmentosa
17p13.3 microduplication syndrome
Lissencephaly due to LIS1 mutation
Miller-Dieker syndrome
Subcortical band heterotopia
Autosomal dominant Charcot-Marie-Tooth disease type 2O
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Autosomal dominant nonsyndromic intellectual deficit
Pulverulent cataract
Microcephaly - lymphedema - chorioretinopathy
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
Immunodeficiency by defective expression of HLA class 2
Behavioral variant of frontotemporal dementia
Classical progressive supranuclear palsy
Progressive non-fluent aphasia
Progressive supranuclear palsy - corticobasal syndrome
Progressive supranuclear palsy - parkinsonism
Progressive supranuclear palsy - progressive non fluent aphasia
Progressive supranuclear palsy - pure akinesia with gait freezing
Semantic dementia
Craniolenticulosutural dysplasia
Burkitt lymphoma
Chronic mucocutaneous candidiasis
Chuvash erythrocytosis
Cowden syndrome
Glycogen storage disease due to muscle beta-enolase deficiency
Hermansky-Pudlak syndrome type 7
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Precursor T-cell acute lymphoblastic leukemia
Proteus syndrome
Pseudohypoaldosteronism type 2E
Split hand-split foot malformation
Susceptibility to viral and mycobacterial infections
Von Hippel-Lindau disease
Infantile Refsum disease
Neonatal adrenoleukodystrophy
Zellweger syndrome
Familial isolated dilated cardiomyopathy
Muscular dystrophy, Selcen type
Achromatopsia
Cone rod dystrophy
Primary ciliary dyskinesia
Primary ciliary dyskinesia - retinitis pigmentosa
Spectrin-associated autosomal recessive cerebellar ataxia
Spinocerebellar ataxia type 5
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
Distal myopathy with posterior leg and anterior hand involvement
Isolated 3-methylcrotonyl-CoA carboxylase deficiency
Muscle filaminopathy

Synonym(s): - Parkinsonism with alveolar hypoventilation and mental depression

Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (ICD10): (no data available)

Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: adulthood Average age of death: - Type of inheritance: autosomal dominant		External references: 1 OMIM reference - No MeSH references

Gene symbol	UniProt reference	OMIM reference
DCTN1	Q14203	601143

Very frequent

- Autosomal dominant inheritance
- Execution movement disorder / dysmetria / bradykinesia / akinesia / apraxia
- Extrapyramidal syndrome
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Sleep and vigilance disorders
- Tremor
- Weight loss / loss of appetite / break in weight curve / general health alteration

Occasional

- Delirium / hallucination
- Early death / lethality
- Hypotension
- Psychic / behavioural troubles
- Psychic / psychomotor regression / dementia / intellectual decline
- Psychosis / schizophrenia / maniac disorder