ADAMTSL2 gene related symptoms and diseases

All the information presented here about the ADAMTSL2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC,ORPHANET.

Top 5 symptoms associated to ADAMTSL2 gene



Symptoms // Phenotype % Cases
Autosomal recessive inheritance Very Common - Between 80% and 100% cases
Bilateral talipes equinovarus Very Common - Between 80% and 100% cases
Limb undergrowth Very Common - Between 80% and 100% cases
Small nail Very Common - Between 80% and 100% cases
Joint contracture of the hand Very Common - Between 80% and 100% cases

Other less frequent symptoms

Patients with ADAMTSL2 gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases

Aortic valve stenosis

Not very common - Between 30% and 50% cases

Cardiomegaly

Commonly - More than 50% cases

Thickened skin

Not very common - Between 30% and 50% cases

Coxa valga

Commonly - More than 50% cases

Short long bone

Not very common - Between 30% and 50% cases

Bicuspid aortic valve

Commonly - More than 50% cases

Aortic regurgitation

Not very common - Between 30% and 50% cases

High pitched voice

And 41 more phenotypes.

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Rare diseases associated to ADAMTSL2 gene

Here you will find a list of rare diseases related to the ADAMTSL2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


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.

Most common symptoms of GELEOPHYSIC DYSPLASIA 1; GPHYSD1

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Short stature
  • Pica


More info about GELEOPHYSIC DYSPLASIA 1; GPHYSD1

SOURCES: UMLS MONDO OMIM

Potential gene panels for ADAMTSL2 gene

Lysosomal Storage Disease Panel Panel

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. Lysosomal Storage Disease Panel that also includes the following genes: GAA COL2A1 PSAP GNPTAB GLB1 GNE SMPD1 CTSD HEXA GM2A

More info about this panel

Connective Tissue Disorders Panel Panel

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States. Connective Tissue Disorders Panel that also includes the following genes: ATP7A FBLN5 COL2A1 COL1A1 COL1A2 COL3A1 ELN PYCR1 ATP6V0A2 FBN1

More info about this panel

ADAMTSL2. Complete sequencing Panel

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

This panel specifically test the ADAMTSL2 gene.

More info about this panel

Geleophysic Dysplasia 1 (sequence analysis of ADAMTSL2 gene) Panel

By CGC Genetics in Portugal.

This panel specifically test the ADAMTSL2 gene.

More info about this panel

Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel

By CGC Genetics in Portugal. Lysosomal and peroxisomal diseases (NGS panel of 109 genes) that also includes the following genes: GAA PPARG AMACR HSD17B4 CLCN7 PSAP GNPTAB GLB1 ATP6V0A2 SMPD1

More info about this panel

Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel

By CGC Genetics in Portugal. Lysosomal and peroxisomal diseases (NGS panel of 109 genes) that also includes the following genes: GAA PPARG AMACR HSD17B4 CLCN7 PSAP GNPTAB GLB1 ATP6V0A2 SMPD1

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Ehlers-Danlos Syndromes Sequencing Panel with CNV Detection Panel

By PreventionGenetics PreventionGenetics in United States. Ehlers-Danlos Syndromes Sequencing Panel with CNV Detection that also includes the following genes: ATP7A B4GALT7 FBLN5 COL1A1 COL1A2 COL3A1 ELN PYCR1 ATP6V0A2 ALDH18A1

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Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel

By PreventionGenetics PreventionGenetics in United States. Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection that also includes the following genes: RECQL4 ALPL ANKH TYROBP FKBP10 B4GALT7 IFITM5 LRP5 COL2A1 COL1A1

More info about this panel

Geleophysic dysplasia Panel

By Centogene AG - the Rare Disease Company in Germany.

This panel specifically test the ADAMTSL2 gene.

More info about this panel

Micromelic dysplasia: acromelic, acromesomelic, mesomelic and rhizo-mesomelic dysplasia Panel Panel

By CeGaT GmbH in Germany. Micromelic dysplasia: acromelic, acromesomelic, mesomelic and rhizo-mesomelic dysplasia Panel that also includes the following genes: FBN1 FGFR3 PRKAR1A WDR35 ADAMTSL2 IFT140 IFT43 IFT122 WNT5A ROR2

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NGS panel - Ectopia lentis and/or Weill-Marchesani syndrome Panel

By Genome Diagnostics VU University Medical Center in Netherlands. NGS panel - Ectopia lentis and/or Weill-Marchesani syndrome that also includes the following genes: FBN1 CBS ADAMTSL2 LTBP2 ADAMTSL4 ADAMTS10 ADAMTS17

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Lysosomal Disorders NGS Panel Panel

By Fulgent Genetics Fulgent Genetics in United States. Lysosomal Disorders NGS Panel that also includes the following genes: ARG1 BTD GAA ADSL COL2A1 PSAP GNPTAB GLB1 PRODH GNE

More info about this panel

ADAMTSL2 Panel

By Fulgent Genetics Fulgent Genetics in United States.

This panel specifically test the ADAMTSL2 gene.

More info about this panel

Lysosomal Disorders and Mucopolysaccharidosis Panel Panel

By Blueprint Genetics in Finland. Lysosomal Disorders and Mucopolysaccharidosis Panel that also includes the following genes: ARG1 BTD GAA ADSL COL2A1 PSAP GNPTAB GLB1 PRODH GNE

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Comprehensive Metabolism Panel Panel

By Blueprint Genetics in Finland. Comprehensive Metabolism Panel that also includes the following genes: HFE MTHFR MCCC1 MCCC2 ACAD9 ACADL ACADM ACADS AGL ACADVL

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Skeletal Dysplasias Core Panel Panel

By Blueprint Genetics in Finland. Skeletal Dysplasias Core Panel that also includes the following genes: ALPL ANKH FKBP10 LRP5 COL2A1 COL1A1 COL1A2 TGFB1 TNFRSF11A CLCN7

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Comprehensive Skeletal Dysplasias and Disorders Panel Panel

By Blueprint Genetics in Finland. Comprehensive Skeletal Dysplasias and Disorders Panel that also includes the following genes: RECQL4 ALPL ANKH TYROBP FKBP10 B4GALT7 LRP5 COL2A1 COL1A1 COL1A2

More info about this panel

Micromelic Dysplasia Panel Panel

By Blueprint Genetics in Finland. Micromelic Dysplasia Panel that also includes the following genes: FBN1 FGFR3 SMAD4 PRKAR1A SHOX WDR35 SOX9 ADAMTSL2 IFT140 LTBP2

More info about this panel

Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel

By Blueprint Genetics in Finland. Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RECQL4 ALPL ANKH TYROBP FKBP10 B4GALT7 BCS1L IFITM5 LRP5 COL2A1

More info about this panel

Geleophysic dysplasia 1 Panel

By Bioarray in Spain.

This panel specifically test the ADAMTSL2 gene.

More info about this panel

Geleophysic Dysplasia , Sequencing ADAMTSL2 Gene Panel

By Reference Laboratory Genetics in Spain.

This panel specifically test the ADAMTSL2 gene.

More info about this panel


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