HGPPS2
MCID: GZP006
MIFTS: 22

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 57 6
Gaze Palsy, Familial Horizontal, with Progressive Scoliosis, 2 57 29
Hgpps2 57 74
Gaze Palsy, Familial Horizontal, with Progressive Scoliosis, 2, with Impaired Intellectual Development 74
Developmental Split-Brain Syndrome 57
Developmental Split Brain Syndrome 6

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)


HPO:

32
gaze palsy, familial horizontal, with progressive scoliosis 2, with impaired intellectual development:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

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

UniProtKB/Swiss-Prot : 74 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

More information from OMIM: 617542 PS607313

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

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:

# Related Disease Score Top Affiliating Genes
1 mirror movements 1 10.1
2 alacrima, achalasia, and mental retardation syndrome 10.0
3 scoliosis 10.0
4 supranuclear ocular palsy 10.0

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

Human phenotypes related to Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 2, with Impaired Intellectual Development:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 hyperreflexia 32 very rare (1%) HP:0001347
2 bimanual synkinesia 32 very rare (1%) HP:0001335
3 agenesis of corpus callosum 32 HP:0001274
4 intellectual disability 32 HP:0001249
5 scoliosis 32 HP:0002650
6 global developmental delay 32 HP:0001263
7 generalized hypotonia 32 HP:0001290

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
intellectual disability
agenesis of the corpus callosum
delayed psychomotor development
hyperreflexia (in some patients)
hypoplastic pons
more
Skeletal Spine:
scoliosis, progressive

Muscle Soft Tissue:
hypotonia

Head And Neck Eyes:
horizontal gaze palsy

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, with Impaired Intellectual Development

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

Genetic tests related to Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 2, with Impaired Intellectual Development:

# Genetic test Affiliating Genes
1 Gaze Palsy, Familial Horizontal, with Progressive Scoliosis, 2 29

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

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

41
Brain, Pons

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

Articles related to Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 2, with Impaired Intellectual Development:

# Title Authors PMID Year
1
Biallelic mutations in human DCC cause developmental split-brain syndrome. 38 8 71
28250456 2017
2
DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome. 38
29068161 2018

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

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 DCC DCC, 7,682-BP DEL deletion Pathogenic
2 DCC DCC, 7-BP DEL, NT788 deletion Pathogenic
3 DCC NM_005215.4(DCC): c.788_794del (p.Val263fs) deletion Pathogenic rs1555682265 18:50450167-50450173 18:52923797-52923803
4 DCC deletion Pathogenic 18:49867184-49874866 18:52340818-52348500
5 DCC NM_005215.4(DCC): c.2071C> A (p.Gln691Lys) single nucleotide variant Uncertain significance rs1555652216 18:50848434-50848434 18:53322064-53322064

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, with Impaired Intellectual Development.

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 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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