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PTBHS
MCID: PRT101
MIFTS: 32
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Poretti-Boltshauser Syndrome (PTBHS)
Categories:
Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Poretti-Boltshauser Syndrome:
Characteristics:Orphanet epidemiological data:58
ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; HPO:31
poretti-boltshauser syndrome:
Inheritance autosomal recessive inheritance Onset and clinical course variable expressivity Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Neuronal diseases Eye diseases
ICD10:
33
Orphanet: 58
Rare neurological diseases
Rare eye diseases
Developmental anomalies during embryogenesis |
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OMIM® :
57
Poretti-Boltshauser syndrome is an autosomal recessive disorder characterized by cerebellar dysplasia, cerebellar vermis hypoplasia, cerebellar cysts in most patients, high myopia, variable retinal dystrophy, and eye movement abnormalities. Affected individuals have delayed motor development and often have speech delay. Cognitive function can range from normal to intellectually disabled (summary by Aldinger et al., 2014). (615960) (Updated 05-Mar-2021)
MalaCards based summary : Poretti-Boltshauser Syndrome, also known as ptbhs, is related to myopia and ocular motor apraxia. An important gene associated with Poretti-Boltshauser Syndrome is LAMA1 (Laminin Subunit Alpha 1). Affiliated tissues include eye and pons, and related phenotypes are ataxia and cognitive impairment KEGG : 36 Poretti-Boltshauser syndrome is an autosomal recessive disorder characterized by nonprogressive cerebellar ataxia, intellectual disability, and ocular apraxia with cerebellar cysts. It has been reported that mutations in LAMA1 cause this disease. UniProtKB/Swiss-Prot : 73 Poretti-Boltshauser syndrome: An autosomal recessive disorder characterized by cerebellar dysplasia, cerebellar vermis atrophy, cerebellar cysts in most patients, high myopia, variable retinal dystrophy, and eye movement abnormalities including strabismus, ocular apraxia, nystagmus. Affected individuals have ataxia, delayed motor development, language impairment, and intellectual disability with variable severity. |
Diseases related to Poretti-Boltshauser Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of the top 20 diseases related to Poretti-Boltshauser Syndrome:
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Human phenotypes related to Poretti-Boltshauser Syndrome:58 31 (show all 29)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:615960 (Updated 05-Mar-2021) |
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MalaCards organs/tissues related to Poretti-Boltshauser Syndrome:40
Eye,
Pons
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Articles related to Poretti-Boltshauser Syndrome:(show all 12)
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Genes related to Poretti-Boltshauser Syndrome (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Poretti-Boltshauser Syndrome:6 (show all 28)
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Search
GEO
for disease gene expression data for Poretti-Boltshauser Syndrome.
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