PTDSS1 gene related symptoms and diseases
All the information presented here about the PTDSS1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to PTDSS1 gene
Symptoms // Phenotype | % Cases |
---|---|
Intellectual disability | Very Common - Between 80% and 100% cases |
Reduced subcutaneous adipose tissue | Very Common - Between 80% and 100% cases |
Hypoplastic fingernail | Very Common - Between 80% and 100% cases |
Premature skin wrinkling | Very Common - Between 80% and 100% cases |
Progeroid facial appearance | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with PTDSS1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Choanal stenosis
- Abnormality of finger
- Osteopetrosis
- Microglossia
- Submucous cleft hard palate
- Anteriorly placed anus
- Prematurely aged appearance
- Thickened calvaria
And 116 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to PTDSS1 gene
Here you will find a list of rare diseases related to the PTDSS1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM
Alternate names
LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM Is also known as lenz-majewski syndrome
Description
Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis.
Most common symptoms of LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM
- Intellectual disability
- Global developmental delay
- Short stature
- Generalized hypotonia
- Microcephaly
More info about LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM
Search interest in PTDSS1
Potential gene panels for PTDSS1 gene
Hypospadias Sequencing Panel Panel
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By Genetic Services Laboratory University of Chicago Hypospadias Sequencing Panel that also includes the following genes: SALL1 BMP4 SOX2 SRD5A2 HNF1B MED12 WNT7A WT1 FBXL4 ZEB2
More info about this panel![](/img/flags/United-states.png)
Connective Tissue Disorders Panel Panel
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By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Connective Tissue Disorders Panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 TNXB C1R C1S
More info about this panel![](/img/flags/United-states.png)
Cutis Laxa Panel Panel
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By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Cutis Laxa Panel that also includes the following genes: ATP6V0A2 RIN2 GORAB EFEMP2 ELN FBLN5 LTBP4 PTDSS1 PYCR1 ALDH18A1
More info about this panel![](/img/flags/United-states.png)
Hypospadias Sequencing Panel with CNV Detection Panel
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By PreventionGenetics PreventionGenetics Hypospadias Sequencing Panel with CNV Detection that also includes the following genes: SALL1 BMP4 BMP7 SOX2 SRD5A2 HNF1B MED12 WNT7A WT1 FBXL4
More info about this panel![](/img/flags/United-states.png)
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection Panel
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By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A SEMA3E BMP7 FOXL2 BRDT SOS1
More info about this panel![](/img/flags/United-states.png)
Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection Panel
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By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A BMP7 FOXL2 SOS1 SOX10 SOX2
More info about this panel![](/img/flags/United-states.png)
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel
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By PreventionGenetics PreventionGenetics Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection that also includes the following genes: RMRP ROR2 RUNX2 SALL1 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 FBXW4
More info about this panel![](/img/flags/United-states.png)
Dense bone dysplasia NGS panel Panel
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By Connective Tissue Gene Tests Dense bone dysplasia NGS panel that also includes the following genes: SLCO2A1 TBXAS1 TGFB1 TNFRSF11B TYROBP SOST ANKH DLX3 GJA1 HPGD
More info about this panel![](/img/flags/United-states.png)
Dense bone dysplasia Comprehensive panel Panel
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By Connective Tissue Gene Tests Dense bone dysplasia Comprehensive panel that also includes the following genes: SLCO2A1 TBXAS1 TGFB1 TNFRSF11B TYROBP SOST ANKH DLX3 GJA1 HPGD
More info about this panel![](/img/flags/United-states.png)
Dense bone dysplasia Deletion / Duplication panel Panel
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By Connective Tissue Gene Tests Dense bone dysplasia Deletion / Duplication panel that also includes the following genes: SLCO2A1 TBXAS1 TGFB1 TNFRSF11B TYROBP SOST ANKH DLX3 GJA1 HPGD
More info about this panel![](/img/flags/United-states.png)
Osteopetrosis and Dense bone dysplasia Deletion / Duplication panel Panel
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By Connective Tissue Gene Tests Osteopetrosis and Dense bone dysplasia Deletion / Duplication panel that also includes the following genes: SLCO2A1 TBXAS1 TCIRG1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 TYROBP CA2 SOST
More info about this panel![](/img/flags/United-states.png)
Osteopetrosis and Dense bone dysplasia NGS panel Panel
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By Connective Tissue Gene Tests Osteopetrosis and Dense bone dysplasia NGS panel that also includes the following genes: SLCO2A1 TBXAS1 TCIRG1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 TYROBP CA2 SOST
More info about this panel![](/img/flags/United-states.png)
Osteopetrosis and Dense bone dysplasia Comprehensive panel Panel
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By Connective Tissue Gene Tests Osteopetrosis and Dense bone dysplasia Comprehensive panel that also includes the following genes: SLCO2A1 TBXAS1 TCIRG1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 TYROBP CA2 SOST
More info about this panel![](/img/flags/United-states.png)
Mental retardation - different panels Panel
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By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Progeria syndromes Panel Panel
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By CeGaT GmbH Progeria syndromes Panel that also includes the following genes: BLM WRN ZMPSTE24 BANF1 GTF2H5 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Skeletal dysplasia with increased bone density Panel Panel
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By CeGaT GmbH Skeletal dysplasia with increased bone density Panel that also includes the following genes: SLCO2A1 TBXAS1 TCIRG1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 CA2 SOST SNX10
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Single gene testing PTDSS1 Panel
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By CeGaT GmbH
This panel specifically test the PTDSS1 gene.
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Brachydactyly / Syndactyly Panel Panel
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By Blueprint Genetics Brachydactyly / Syndactyly Panel that also includes the following genes: ROR2 BMP2 BMPR1B SOX9 TP63 CHSY1 ESCO2 CCNQ DHCR7 GDF5
More info about this panel![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Osteopetrosis and Dense Bone Dysplasia Panel Panel
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By Blueprint Genetics Osteopetrosis and Dense Bone Dysplasia Panel that also includes the following genes: SLCO2A1 TCIRG1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 TYROBP CA2 SOST SNX10
More info about this panel![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Comprehensive Skeletal Dysplasias and Disorders Panel Panel
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By Blueprint Genetics Comprehensive Skeletal Dysplasias and Disorders Panel that also includes the following genes: RMRP ROR2 BGN RUNX2 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 SHOX
More info about this panel![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Skeletal Dysplasia with Abnormal Mineralization Panel Panel
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By Blueprint Genetics Skeletal Dysplasia with Abnormal Mineralization Panel that also includes the following genes: SOX9 TNFRSF11A TNFRSF11B VDR SNX10 CASR ANKH FKBP10 P3H1 CLCN5
More info about this panel![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel
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By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D
More info about this panel![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
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