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 56 6
Gaze Palsy, Familial Horizontal, with Progressive Scoliosis, 2 56 29
Hgpps2 56 73
Gaze Palsy, Familial Horizontal, with Progressive Scoliosis, 2, with Impaired Intellectual Development 73
Developmental Split-Brain Syndrome 56
Developmental Split Brain Syndrome 6

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:



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

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

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

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:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 hyperreflexia 31 very rare (1%) HP:0001347
2 bimanual synkinesia 31 very rare (1%) HP:0001335
3 agenesis of corpus callosum 31 HP:0001274
4 intellectual disability 31 HP:0001249
5 scoliosis 31 HP:0002650
6 global developmental delay 31 HP:0001263
7 generalized hypotonia 31 HP:0001290

Symptoms via clinical synopsis from OMIM:

56
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:

40
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. 61 56 6
28250456 2017
2
DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome. 61
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 Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DCC DCC, 7,682-BP DELdeletion Pathogenic 430580
2 DCC DCC, 7-BP DEL, NT788deletion Pathogenic 430581
3 DCC NM_005215.4(DCC):c.788_794del (p.Val263fs)deletion Pathogenic 446724 rs1555682265 18:50450166-50450172 18:52923796-52923802
4 DCC deletion Pathogenic 446759 18:49867184-49874866 18:52340818-52348500
5 DCC NM_005215.4(DCC):c.2071C>A (p.Gln691Lys)SNV Uncertain significance 446760 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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