Gaze Palsy, Familial Horizontal, With Progressive Scoliosis, 1; Hgpps1

Description

HGPPS is an autosomal recessive neurologic disorder characterized by eye movement abnormalities apparent from birth and childhood-onset progressive scoliosis. These features are associated with a developmental malformation of the brainstem including hypoplasia of the pons and cerebellar peduncles and defective decussation of certain neuronal systems. Cognitive function is normal (summary by Bosley et al., 2005). Genetic Heterogeneity of Familial Horizontal Gaze Palsy With Progressive ScoliosisSee also HGPPS2 (OMIM ), caused by mutation in the DCC gene (OMIM ) on chromosome 18q21.

Clinical Features

Top most frequent phenotypes and symptoms related to Gaze Palsy, Familial Horizontal, With Progressive Scoliosis, 1; Hgpps1

  • Seizures
  • Scoliosis
  • Nystagmus
  • Sensorineural hearing impairment
  • Cognitive impairment
  • Flexion contracture
  • Short neck
  • Kyphosis
  • Abnormality of movement
  • Ophthalmoplegia
And another 13 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Gaze Palsy, Familial Horizontal, With Progressive Scoliosis, 1; Hgpps1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Congenital mirror movements type 1 (deletion/duplication analysis of DCC gene).

By CGC Genetics in Portugal.

DCC
Specificity
100 %
Genes
50 %
Congenital mirror movements type 1 (sequence analysis of DCC gene).

By CGC Genetics in Portugal.

DCC
Specificity
100 %
Genes
50 %
Congenital mirror movements type 1 (deletion/duplication analysis of DCC gene).

By CGC Genetics in Portugal.

DCC
Specificity
100 %
Genes
50 %
Congenital mirror movements type 1 (sequence analysis of DCC gene).

By CGC Genetics in Portugal.

DCC
Specificity
100 %
Genes
50 %
Mirror movements type 1.

By Centogene AG - the Rare Disease Company in Germany.

DCC
Specificity
100 %
Genes
50 %
Esophageal carcinoma, somatic.

By Centogene AG - the Rare Disease Company in Germany.

DCC
Specificity
100 %
Genes
50 %
Colorectal cancer, somatic.

By Centogene AG - the Rare Disease Company in Germany.

DCC
Specificity
100 %
Genes
50 %
Single gene testing DCC.

By CeGaT GmbH in Germany.

DCC
Specificity
100 %
Genes
50 %
DCC.

By Fulgent Genetics Fulgent Genetics in United States.

DCC
Specificity
100 %
Genes
50 %
Familial Congenital Mirror Movements, Massive Sequencing (NGS) DCC, RAD51 Genes.

By Reference Laboratory Genetics in Spain.

RAD51, DCC
Specificity
50 %
Genes
50 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
50 %
CEN4GEN Colorectal cancer: Extended Sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

APC, MSH2, MSH6, MLH1, TP53, CASP8, BRAF, DMD, KRAS, NRAS, ATM, SMAD4, CTNNB1, TGFBR2, SLC9A9, EP300, SMAD2, PIK3CA, FBXW7, AKT1 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
50 %
CEN4GEN Gastric cancer: Extended gene sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

BRCA2, APC, TP53, RET, FGFR2, CDH1, STK11, MET, LRRK2, S1PR2, CTNNB1, NOTCH1, SPEG, PIK3CA, FBXW7, PRKDC, ERBB2, MYC, DCC, TRIO , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
50 %
ROBO3. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

ROBO3
Specificity
100 %
Genes
50 %
Progressive external ophthalmoplegia - scoliosis (sequence analysis of ROBO3 gene).

By CGC Genetics in Portugal.

ROBO3
Specificity
100 %
Genes
50 %
Familial Horizontal Gaze Palsy with Progressive Scoliosis.

By Exeter Molecular Genetics Laboratory in United Kingdom.

ROBO3
Specificity
100 %
Genes
50 %
Congenital Fibrosis of Extraocular Muscles (Ocular Motility Disorder) or Strabismus Syndromes Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TUBB3, PHOX2A, KIF21A, TUBB2B, HOXB1, HOXA1, ECEL1, SALL4, ROBO3, CHN1
Specificity
10 %
Genes
50 %
Gaze palsy, horizontal, with progressive scoliosis.

By Centogene AG - the Rare Disease Company in Germany.

ROBO3
Specificity
100 %
Genes
50 %
Single gene testing ROBO3.

By CeGaT GmbH in Germany.

ROBO3
Specificity
100 %
Genes
50 %
ROBO3.

By Fulgent Genetics Fulgent Genetics in United States.

ROBO3
Specificity
100 %
Genes
50 %
Neuro-Ophthalmology Panel.

By Blueprint Genetics in Finland.

TWNK, C12orf65, PAX6, TUBB3, GPR143, OPA1, WFS1, OTX2, POLG, SLC25A4, RRM2B, MFN2, OPA3, ACO2, TMEM126A, TK2, SPG7, CISD2, TYMP, PHOX2A , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
50 %
Gaze palsy, horizontal, with progressive scoliosis.

By Bioarray in Spain.

ROBO3
Specificity
100 %
Genes
50 %
Familial Horizontal Gaze Palsy with Progressive Scoliosis , Sequencing ROBO3 Gene.

By Reference Laboratory Genetics in Spain.

ROBO3
Specificity
100 %
Genes
50 %
Progressive External Ophthalmoplegia , Panel Massive Sequencing (NGS) 7 Genes.

By Reference Laboratory Genetics in Spain.

TWNK, OPA1, POLG, SLC25A4, RRM2B, POLG2, ROBO3
Specificity
15 %
Genes
50 %

Alternate names

Gaze Palsy, Familial Horizontal, With Progressive Scoliosis, 1; Hgpps1 Is also known as hgpps;hgpps; progressive external ophthalmoplegia and scoliosis.



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