Details of Disease | DrugMAP

General Information of Disease (ID: DISKGVR0)

Disease Name	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
Synonyms	PTBHS; PORETTI-Boltshauser syndrome; Poretti-Boltshauser syndrome; ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
Definition	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome is a rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development, and intellectual disability in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy, and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease.
Disease Hierarchy	DISD715V: Hereditary neurological disease DISOV08L: Central nervous system malformation DISKGVR0: Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
Disease Identifiers	MONDO ID MONDO_0014419 UMLS CUI C4014821 OMIM ID 615960 MedGen ID 863258 Orphanet ID 370022 SNOMED CT ID 763344007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
LAMA1	OTQZMP86	Definitive	Autosomal recessive	[1]
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References

1	Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature. 2011 Sep 21;478(7367):57-63. doi: 10.1038/nature10423.