WNT3 gene related symptoms and diseases
All the information presented here about the WNT3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to WNT3 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Anal atresia | Very Common - Between 80% and 100% cases |
| Cryptorchidism | Common - Between 50% and 80% cases |
| Single umbilical artery | Common - Between 50% and 80% cases |
| Tetraamelia | Common - Between 50% and 80% cases |
| Oral cleft | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with WNT3 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Agenesis of corpus callosum
- Microphthalmia
- Hydrocephalus
- Cataract
- Micrognathia
- Vaginal atresia
Not very common - Between 30% and 50% cases
- Gastroschisis
- Amelia
And 67 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to WNT3 gene
Here you will find a list of rare diseases related to the WNT3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
EXSTROPHY OF BLADDER
Description
Bladder exstrophy and epispadias complex (BEEC) is an anterior midline defect with variable expression involving the infraumbilical abdominal wall including the pelvis, urinary tract, and external genitalia (Gearhart and Jeffs, 1998). BEEC is one of the most severe urologic birth defects because of its profound impact on continence, sexual function, and morbidity due to the effect of chronic and recurrent infections on renal function. The term 'exstrophy,' derived from the Greek work ekstriphein, which literally means 'turn inside out,' was first used by Chaussier in 1780.Martinez-Frias et al. (2001) emphasized that exstrophy of the cloaca and exstrophy of the bladder are 2 different expressions of a primary developmental field defect. Cloacal exstrophy is a feature of the OEIS (omphalocele-exstrophy-imperforate anus-spinal defects) complex (OMIM ). Exstrophy of the cloaca includes the persistence and exstrophy of a common cloaca that receives ureters, ileum, and a rudimentary hindgut and is associated with failure of fusion of the genital tubercles and pubic rami, incomplete development of the lumbosacral vertebrae with spinal dysraphism, imperforate anus, cryptorchidism and epispadias in males and anomalies of the mullerian duct derivatives in females, and a wide range of urinary tract anomalies. Omphalocele is common, and most patients have a single umbilical artery.
Most common symptoms of EXSTROPHY OF BLADDER
- Cryptorchidism
- Recurrent infections
- Inguinal hernia
- Umbilical hernia
- Anal atresia
More info about EXSTROPHY OF BLADDER
TETRAAMELIA-MULTIPLE MALFORMATIONS SYNDROME
Alternate names
TETRAAMELIA-MULTIPLE MALFORMATIONS SYNDROME Is also known as zimmer phocomelia
Description
Tetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
Most common symptoms of TETRAAMELIA-MULTIPLE MALFORMATIONS SYNDROME
- Micrognathia
- Cataract
- Cryptorchidism
- Optic atrophy
- Hydrocephalus
More info about TETRAAMELIA-MULTIPLE MALFORMATIONS SYNDROME
SOURCES: ORPHANET
TETRA-AMELIA
Alternate names
TETRA-AMELIA Is also known as total amelia, tetraamelia syndrome, autosomal recessive
Description
Tetraamelia syndrome-1 is characterized by complete limb agenesis without defects of scapulae or clavicles. Other features include bilateral cleft lip/palate, diaphragmatic defect with bilobar right lung, renal and adrenal agenesis, pelvic hypoplasia, and urogenital defects (Niemann et al., 2004).
Most common symptoms of TETRA-AMELIA
- Micrognathia
- Cleft palate
- Cataract
- Low-set ears
- Hydrocephalus
More info about TETRA-AMELIA
Search interest in WNT3
Potential gene panels for WNT3 gene
Tetra-amelia AR (sequence analysis of WNT3 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the WNT3 gene.
More info about this panel Portugal.
Congenital Limb Malformation Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Congenital Limb Malformation Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP2 BMPR1B SF3B4 FBXW4 SHH BRCA2 SOX9 TBX15
More info about this panel United States.
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel
United States.
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 United States.
Tetraamelia, autosomal recessive Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the WNT3 gene.
More info about this panel Germany.
AllNeuro panel Panel
Germany.
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panel Germany.
Limb Malformation: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Limb Malformation: Sequencing Panel that also includes the following genes: ROR2 SALL1 BMP2 BMPR1B FBXW4 SHH SOX9 TBX15 TBX3 TBX5
More info about this panel United States.
Skeletal Dysplasia: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Skeletal Dysplasia: Sequencing Panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SHOX SLC25A12 SLC26A2
More info about this panel United States.
Skeletal Dysplasias NGS panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Skeletal Dysplasias NGS panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SLC25A12 SLC26A2 SMARCAL1
More info about this panel United States.
WNT3 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the WNT3 gene.
More info about this panel United States.
Ectrodactyly and Related Disorders , Panel Massive Sequencing (NGS) 4 Genes Panel
Spain.
By Reference Laboratory Genetics Ectrodactyly and Related Disorders , Panel Massive Sequencing (NGS) 4 Genes that also includes the following genes: WNT10B WNT3 LMBR1 TP63
More info about this panel Spain.
Tempus xO assay Panel
United States.
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panel United States.
Tetra-Amelia Syndrome: gene sequencing Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the WNT3 gene.
More info about this panel Canada.
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