Geleophysic Dysplasia 1; Gphysd1

Description

Geleophysic dysplasia-1 is an autosomal recessive disorder characterized by severe short stature, short hands and feet, joint limitations, and skin thickening. Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies. Affected individuals have characteristic facial features including a 'happy' face with full cheeks, shortened nose, hypertelorism, long and flat philtrum, and thin upper lip. Other distinctive features include progressive cardiac valvular thickening often leading to an early death, toe walking, tracheal stenosis, respiratory insufficiency, and lysosomal-like storage vacuoles in various tissues (summary by Le Goff et al., 2011). Genetic Heterogeneity of Geleophysic DysplasiaGeleophysic dysplasia-2 (GPHYSD2 ) is an autosomal dominant form of the disorder caused by heterozygous mutation in the FBN1 gene (OMIM ) on chromosome 15q21.1. Acromicric dysplasia (OMIM ) and the autosomal dominant form of Weill-Marchesani syndrome (OMIM ) are allelic to geleophysic dysplasia-2 and share overlapping skeletal and joint features.Geleophysic dysplasia-3 (GPHYSD3 ) is caused by heterozygous mutation in the LTBP3 gene (OMIM ) on chromosome 11q13.

Clinical Features

Top most frequent phenotypes and symptoms related to Geleophysic Dysplasia 1; Gphysd1

  • Seizures
  • Global developmental delay
  • Short stature
  • Pica
  • Growth delay
  • Flexion contracture
  • Hepatomegaly
  • Anteverted nares
  • Splenomegaly
  • Talipes equinovarus
And another 43 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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Geleophysic Dysplasia 1; Gphysd1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Lysosomal Storage Disease Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

GAA, COL2A1, PSAP, GNPTAB, GLB1, GNE, SMPD1, CTSD, HEXA, GM2A, HEXB, PHYH, CTSK, CTSA, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH , (...)

View the complete list with 55 more genes
Specificity
2 %
Genes
100 %
Connective Tissue Disorders Panel.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States.

ATP7A, FBLN5, COL2A1, COL1A1, COL1A2, COL3A1, ELN, PYCR1, ATP6V0A2, FBN1, ALDH18A1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, SMAD4, ADAMTS2, PKD2, FLNA , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
100 %
ADAMTSL2. Complete sequencing.

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

ADAMTSL2
Specificity
100 %
Genes
100 %
Geleophysic Dysplasia 1 (sequence analysis of ADAMTSL2 gene).

By CGC Genetics in Portugal.

ADAMTSL2
Specificity
100 %
Genes
100 %
Lysosomal and peroxisomal diseases (NGS panel of 109 genes).

By CGC Genetics in Portugal.

GAA, PPARG, AMACR, HSD17B4, CLCN7, PSAP, GNPTAB, GLB1, ATP6V0A2, SMPD1, HPS1, DNM1L, BLOC1S3, HPS6, SCP2, CTSD, AP3B1, GRN, AGPS, LMBRD1 , (...)

View the complete list with 88 more genes
Specificity
1 %
Genes
100 %
Lysosomal and peroxisomal diseases (NGS panel of 109 genes).

By CGC Genetics in Portugal.

GAA, PPARG, AMACR, HSD17B4, CLCN7, PSAP, GNPTAB, GLB1, ATP6V0A2, SMPD1, HPS1, DNM1L, BLOC1S3, HPS6, SCP2, CTSD, AP3B1, GRN, AGPS, LMBRD1 , (...)

View the complete list with 88 more genes
Specificity
1 %
Genes
100 %
Ehlers-Danlos Syndromes Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ATP7A, B4GALT7, FBLN5, COL1A1, COL1A2, COL3A1, ELN, PYCR1, ATP6V0A2, ALDH18A1, SLC39A13, COL5A1, COL5A2, PLOD1, PLP1, ADAMTS2, FLNA, ADAMTSL2, SMAD3, TGFBR1 , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
100 %
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, SHH, FBN1, DHODH , (...)

View the complete list with 238 more genes
Specificity
1 %
Genes
100 %
Geleophysic dysplasia.

By Centogene AG - the Rare Disease Company in Germany.

ADAMTSL2
Specificity
100 %
Genes
100 %
Micromelic dysplasia: acromelic, acromesomelic, mesomelic and rhizo-mesomelic dysplasia Panel.

By CeGaT GmbH in Germany.

FBN1, FGFR3, PRKAR1A, WDR35, ADAMTSL2, IFT140, IFT43, IFT122, WNT5A, ROR2, PDE4D, ZSWIM6, GPC6, TRPS1, GDF5, DDR2, NPR2, IHH, GSC
Specificity
6 %
Genes
100 %
NGS panel - Ectopia lentis and/or Weill-Marchesani syndrome.

By Genome Diagnostics VU University Medical Center in Netherlands.

FBN1, CBS, ADAMTSL2, LTBP2, ADAMTSL4, ADAMTS10, ADAMTS17
Specificity
15 %
Genes
100 %
Lysosomal Disorders NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

ARG1, BTD, GAA, ADSL, COL2A1, PSAP, GNPTAB, GLB1, PRODH, GNE, FH, SMPD1, GAMT, CTSD, GCSH, GLDC, AMT, LMBRD1, HEXA, GM2A , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
100 %
ADAMTSL2.

By Fulgent Genetics Fulgent Genetics in United States.

ADAMTSL2
Specificity
100 %
Genes
100 %
Lysosomal Disorders and Mucopolysaccharidosis Panel.

By Blueprint Genetics in Finland.

ARG1, BTD, GAA, ADSL, COL2A1, PSAP, GNPTAB, GLB1, PRODH, GNE, FH, SMPD1, GAMT, CTSD, GLDC, AMT, HEXA, GM2A, SUOX, ALDH5A1 , (...)

View the complete list with 82 more genes
Specificity
1 %
Genes
100 %
Comprehensive Metabolism Panel.

By Blueprint Genetics in Finland.

HFE, MTHFR, MCCC1, MCCC2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ARG1, HLCS, BTD, ATP7B , (...)

View the complete list with 414 more genes
Specificity
1 %
Genes
100 %
Skeletal Dysplasias Core Panel.

By Blueprint Genetics in Finland.

ALPL, ANKH, FKBP10, LRP5, COL2A1, COL1A1, COL1A2, TGFB1, TNFRSF11A, CLCN7, SERPINF1, SLC39A13, P3H1, CRTAP, PLOD2, AGPS, CTSK, CYP27B1, FAM20C, CA2 , (...)

View the complete list with 91 more genes
Specificity
1 %
Genes
100 %
Comprehensive Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2, FBN1, SERPINF1, SP7 , (...)

View the complete list with 226 more genes
Specificity
1 %
Genes
100 %
Micromelic Dysplasia Panel.

By Blueprint Genetics in Finland.

FBN1, FGFR3, SMAD4, PRKAR1A, SHOX, WDR35, SOX9, ADAMTSL2, IFT140, LTBP2, BMPR1B, WDR19, GNAS, IFT122, EXT1, WNT5A, ROR2, LIFR, SLC35D1, TRIP11 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, BCS1L, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2 , (...)

View the complete list with 288 more genes
Specificity
1 %
Genes
100 %
Geleophysic dysplasia 1.

By Bioarray in Spain.

ADAMTSL2
Specificity
100 %
Genes
100 %
Geleophysic Dysplasia , Sequencing ADAMTSL2 Gene.

By Reference Laboratory Genetics in Spain.

ADAMTSL2
Specificity
100 %
Genes
100 %


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