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HGPPS2
MCID: GZP006
MIFTS: 22
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Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 2, with Impaired Intellectual Development (HGPPS2)
Categories:
Genetic diseases, Neuronal diseases
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Aliases & Classifications for Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 2,...
MalaCards integrated aliases for Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 2, with Impaired Intellectual Development:
Name: Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 2, with Impaired Intellectual Development
56
Characteristics:OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
onset of scoliosis in childhood three patients from 2 unrelated consanguineous families have been reported (last curated june 2017) HPO:31
gaze palsy, familial horizontal, with progressive scoliosis 2, with impaired intellectual development:
Inheritance autosomal recessive inheritance Classifications: |
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UniProtKB/Swiss-Prot :
73
Gaze palsy, familial horizontal, with progressive scoliosis, 2, with impaired intellectual development: An autosomal recessive neurologic disorder characterized by global developmental delay, delayed walking, intellectual disability, horizontal gaze palsy, and childhood-onset progressive scoliosis.
MalaCards based summary : Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 2, with Impaired Intellectual Development, also known as gaze palsy, familial horizontal, with progressive scoliosis, 2, is related to mirror movements 1 and alacrima, achalasia, and mental retardation syndrome. An important gene associated with Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 2, with Impaired Intellectual Development is DCC (DCC Netrin 1 Receptor). Affiliated tissues include brain and pons, and related phenotypes are hyperreflexia and bimanual synkinesia |
Diseases related to Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 2, with Impaired Intellectual Development via text searches within MalaCards or GeneCards Suite gene sharing:
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Human phenotypes related to Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 2, with Impaired Intellectual Development:31 (show all 7)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:617542 |
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MalaCards organs/tissues related to Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 2, with Impaired Intellectual Development:40
Brain,
Pons
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Articles related to Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 2, with Impaired Intellectual Development:
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Genes related to Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 2, with Impaired Intellectual Development (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 2, with Impaired Intellectual Development:6
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Search
GEO
for disease gene expression data for Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 2, with Impaired Intellectual Development.
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