MCID: GZP004
MIFTS: 13

Gaze Palsy, Familial Horizontal, with Progressive Scoliosis, 2

Categories: Genetic diseases

Aliases & Classifications for Gaze Palsy, Familial Horizontal, with Progressive Scoliosis, 2

MalaCards integrated aliases for Gaze Palsy, Familial Horizontal, with Progressive Scoliosis, 2:

Name: Gaze Palsy, Familial Horizontal, with Progressive Scoliosis, 2 57 75 6
Hgpps2 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset of scoliosis in childhood
three patients from 2 unrelated consanguineous families have been reported (last curated june 2017)


Classifications:



External Ids:

OMIM 57 617542

Summaries for Gaze Palsy, Familial Horizontal, with Progressive Scoliosis, 2

UniProtKB/Swiss-Prot : 75 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, is also known as hgpps2. An important gene associated with Gaze Palsy, Familial Horizontal, with Progressive Scoliosis, 2 is DCC (DCC Netrin 1 Receptor). Affiliated tissues include pons.

Description from OMIM: 617542

Related Diseases for Gaze Palsy, Familial Horizontal, with Progressive Scoliosis, 2

Symptoms & Phenotypes for Gaze Palsy, Familial Horizontal, with Progressive Scoliosis, 2

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
horizontal gaze palsy

Muscle Soft Tissue:
hypotonia

Skeletal Spine:
scoliosis, progressive

Neurologic Central Nervous System:
delayed psychomotor development
intellectual disability
mirror movements (in some patients)
hyperreflexia (in some patients)
agenesis of the corpus callosum
more

Clinical features from OMIM:

617542

Drugs & Therapeutics for Gaze Palsy, Familial Horizontal, with Progressive Scoliosis, 2

Search Clinical Trials , NIH Clinical Center for Gaze Palsy, Familial Horizontal, with Progressive Scoliosis, 2

Genetic Tests for Gaze Palsy, Familial Horizontal, with Progressive Scoliosis, 2

Anatomical Context for Gaze Palsy, Familial Horizontal, with Progressive Scoliosis, 2

MalaCards organs/tissues related to Gaze Palsy, Familial Horizontal, with Progressive Scoliosis, 2:

41
Pons

Publications for Gaze Palsy, Familial Horizontal, with Progressive Scoliosis, 2

Variations for Gaze Palsy, Familial Horizontal, with Progressive Scoliosis, 2

ClinVar genetic disease variations for Gaze Palsy, Familial Horizontal, with Progressive Scoliosis, 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DCC DCC, 7,682-BP DEL deletion Pathogenic
2 DCC DCC, 7-BP DEL, NT788 deletion Pathogenic

Expression for Gaze Palsy, Familial Horizontal, with Progressive Scoliosis, 2

Search GEO for disease gene expression data for Gaze Palsy, Familial Horizontal, with Progressive Scoliosis, 2.

Pathways for Gaze Palsy, Familial Horizontal, with Progressive Scoliosis, 2

GO Terms for Gaze Palsy, Familial Horizontal, with Progressive Scoliosis, 2

Sources for Gaze Palsy, Familial Horizontal, with Progressive Scoliosis, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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