|
HGPPS2
MCID: GZP006
MIFTS: 18
|
Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 2, with Impaired Intellectual Development (HGPPS2)
Categories:
Genetic diseases, Neuronal diseases
|
|
|
|
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
58
6
Characteristics:OMIM:58
Inheritance:
autosomal recessive
Miscellaneous:
onset of scoliosis in childhood three patients from 2 unrelated consanguineous families have been reported (last curated june 2017) Classifications: |
|
UniProtKB/Swiss-Prot
:
76
Gaze palsy, familial horizontal, with progressive scoliosis, 2: 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, is also known as gaze palsy, familial horizontal, with progressive scoliosis, 2. 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
Description from OMIM:
617542
|
|
|
Human phenotypes related to Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 2, with Impaired Intellectual Development:33
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:617542 |
|
|
MalaCards organs/tissues related to Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 2, with Impaired Intellectual Development:42
Brain,
Pons
|
Articles related to Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 2, with Impaired Intellectual Development:
|
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
|
ClinVar genetic disease variations for Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 2, with Impaired Intellectual Development:6
|
|
Search
GEO
for disease gene expression data for Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 2, with Impaired Intellectual Development.
|
|
|
|