DSTYK gene related symptoms and diseases

All the information presented here about the DSTYK 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 DSTYK gene

Symptoms // Phenotype % Cases
Hearing impairment Uncommon - Between 30% and 50% cases
Abnormality of the genitourinary system Uncommon - Between 30% and 50% cases
Lower limb muscle weakness Uncommon - Between 30% and 50% cases
Hypopigmentation of the skin Uncommon - Between 30% and 50% cases
Sepsis Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with DSTYK gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Nevus
  • Sensory impairment
  • Waddling gait
  • Febrile seizures
  • Spastic gait
  • Cafe-au-lait spot
  • Narrow face
  • Horseshoe kidney

And 50 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to DSTYK gene

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


CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 1; CAKUT1


Alternate names

CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 1; CAKUT1 Is also known as renal hypodysplasia, nonsyndromic, 1, rhdns1

Description

Congenital anomalies of the kidney and urinary tract (CAKUT) comprise a broad spectrum of renal and urinary tract malformations. CAKUT structural anomalies range from complete renal agenesis (the most severe), to renal hypodysplasia, multicystic kidney dysplasia, duplex renal collecting system, ureteropelvic junction obstruction (UPJO), megaureter, posterior urethral valves (PUV), and vesicoureteral reflux (VUR). Renal abnormalities are observed in close relatives of up to 10% of CAKUT patients, although these are frequently asymptomatic. The phenotype often does not follow classic mendelian inheritance: family members with the same genetic defect may have variable phenotypes, ranging from severe renal insufficiency to asymptomatic anomalies. CAKUT occurs in about 1 in 500 live births, but are severe enough to cause neonatal death in about 1 in 2,000 births. In addition, CAKUT can occur in syndromic disorders in association with other congenital anomalies, such as papillorenal syndrome (OMIM ) (summary by Renkema et al., 2011). Genetic Heterogeneity of Congenital Anomalies of Kidney and Urinary TractAlso see CAKUT2 (OMIM ), caused by mutation in the TBX18 gene (OMIM ) on chromosome 6q14.

Most common symptoms of CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 1; CAKUT1

  • Hearing impairment
  • Hypertension
  • Renal insufficiency
  • Hydronephrosis
  • Stage 5 chronic kidney disease


More info about CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 1; CAKUT1

SOURCES: OMIM MESH

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 23


Alternate names

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 23 Is also known as spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome, lison syndrome, spg23, spastic paraparesis, vitiligo, premature graying, characteristic facies, spastic paraplegia with pigmentary abnormalities

Description

Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with ''sharp'' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32.

Most common symptoms of AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 23

  • Seizures
  • Short stature
  • Microcephaly
  • Ataxia
  • Micrognathia


More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 23

SOURCES: ORPHANET OMIM MESH

RENAL AGENESIS, UNILATERAL


Description

Unilateral renal agenesis (URA) is a form of renal agenesis (see this term) characterized by the complete absence of development of one kidney accompanied by an absent ureter.


More info about RENAL AGENESIS, UNILATERAL

SOURCES: ORPHANET


Potential gene panels for DSTYK gene

Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel with CNV Detection that also includes the following genes: ROBO2 SALL1 BMP4 BMP7 SIX1 SIX2 SIX5 SOX11 TBX18 HNF1B

More info about this panel

Complex Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Complex Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection that also includes the following genes: SACS SLC16A2 KDM5C SPG11 ATL1 SPAST SPG7 TFG UCHL1 USP8

More info about this panel

Hereditary Spastic Paraplegia Comprehensive Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hereditary Spastic Paraplegia Comprehensive Sequencing Panel with CNV Detection that also includes the following genes: RTN2 SACS SLC16A2 KDM5C SPG11 ATL1 SPAST SPG7 TFG UCHL1

More info about this panel

Congenital Anomalies of Kidney and Urinary Tract (CAKUT) via DSTYK Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the DSTYK gene.

More info about this panel

Hereditary kidney disorders - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8

More info about this panel

Nephrology Endocrinology and Electrolytes - panels Panel

Germany.

By MGZ Medical Genetics Center Nephrology Endocrinology and Electrolytes - panels that also includes the following genes: ROBO2 SALL1 BLK BMP4 BMP7 SIX1 SIX2 SIX5 SLC12A1 SLC12A3

More info about this panel

Renal Dysplasia, Renal Agenesia, CAKUT Panel Panel

Germany.

By CeGaT GmbH Renal Dysplasia, Renal Agenesia, CAKUT Panel that also includes the following genes: ROBO2 SDCCAG8 BMP4 SIX1 SIX5 SPRY1 TBX18 HNF1B TFAP2A UPK3A

More info about this panel

DSTYK Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the DSTYK gene.

More info about this panel

KidneySeq - 264 Genes Panel

United States.

By Iowa Institute of Human Genetics University of Iowa KidneySeq - 264 Genes that also includes the following genes: ROBO2 CNNM2 SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 BMP4 SEMA3E

More info about this panel

Renal Malformation Panel Panel

Finland.

By Blueprint Genetics Renal Malformation Panel that also includes the following genes: ROBO2 SALL1 BMP4 SIX1 SIX5 HNF1B WT1 ACTG2 FREM1 FREM2

More info about this panel

CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT (CAKUT) NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT (CAKUT) NGS PANEL that also includes the following genes: ROBO2 SALL1 BMP4 BMP7 SIX1 SIX2 SIX5 HNF1B UMOD UPK3A

More info about this panel


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