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
Gaze Palsy, Familial Horizontal, with Progressive Scoliosis, 2 58 76
Hgpps2 58 76
Developmental Split-Brain Syndrome 58
Developmental Split Brain Syndrome 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:



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

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

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

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:

33
# Description HPO Frequency HPO Source Accession
1 hyperreflexia 33 very rare (1%) HP:0001347
2 bimanual synkinesia 33 very rare (1%) HP:0001335
3 agenesis of corpus callosum 33 HP:0001274
4 intellectual disability 33 HP:0001249
5 global developmental delay 33 HP:0001263

Symptoms via clinical synopsis from OMIM:

58
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,...

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:

42
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 Year
1
Biallelic mutations in human DCC cause developmental split-brain syndrome. ( 28250456 )
2017

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 Assembly Location
1 DCC DCC, 7,682-BP DEL deletion Pathogenic
2 DCC DCC, 7-BP DEL, NT788 deletion Pathogenic
3 DCC NM_005215.3(DCC): c.788_794delTTTCTGG (p.Val263Alafs) deletion Pathogenic rs1555682265 GRCh37 Chromosome 18, 50450167: 50450173
4 DCC NM_005215.3(DCC): c.788_794delTTTCTGG (p.Val263Alafs) deletion Pathogenic rs1555682265 GRCh38 Chromosome 18, 52923797: 52923803
5 DCC NC_000018.10: g.52340818_52348500del7683 deletion Pathogenic GRCh37 Chromosome 18, 49867184: 49874866
6 DCC NC_000018.10: g.52340818_52348500del7683 deletion Pathogenic GRCh38 Chromosome 18, 52340818: 52348500
7 DCC NM_005215.3(DCC): c.2071C> A (p.Gln691Lys) single nucleotide variant Uncertain significance rs1555652216 GRCh38 Chromosome 18, 53322064: 53322064
8 DCC NM_005215.3(DCC): c.2071C> A (p.Gln691Lys) single nucleotide variant Uncertain significance rs1555652216 GRCh37 Chromosome 18, 50848434: 50848434

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,...

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75 UMLS via Orphanet
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