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.
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).
Most common symptoms of CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 1; CAKUT1
- Hearing impairment
- Hypertension
- Renal insufficiency
- Hydronephrosis
- Stage 5 chronic kidney disease
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
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, UNILATERALSOURCES: ORPHANET
Search interest in DSTYK
Potential gene panels for DSTYK gene
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel with CNV Detection Panel
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 panelComplex Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection Panel
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 panelHereditary Spastic Paraplegia Comprehensive Sequencing Panel with CNV Detection Panel
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 panelCongenital Anomalies of Kidney and Urinary Tract (CAKUT) via DSTYK Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the DSTYK gene.
More info about this panelHereditary kidney disorders - different panels Panel
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 panelNephrology Endocrinology and Electrolytes - panels Panel
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 panelRenal Dysplasia, Renal Agenesia, CAKUT Panel Panel
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 panelDSTYK Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the DSTYK gene.
More info about this panelKidneySeq - 264 Genes Panel
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 panelRenal Malformation Panel Panel
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 panelCONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT (CAKUT) NGS PANEL Panel
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
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