RIPK4 gene related symptoms and diseases
All the information presented here about the RIPK4 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to RIPK4 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Hypoplastic toenails | Very Common - Between 80% and 100% cases |
| Aplasia cutis congenita | Very Common - Between 80% and 100% cases |
| Facial cleft | Very Common - Between 80% and 100% cases |
| Multiple cafe-au-lait spots | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with RIPK4 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Absent thumb
- Truncal obesity
- Aplasia/Hypoplasia of the eyebrow
- Anonychia
- Mask-like facies
- Median cleft lip
- Bilateral cryptorchidism
- Absent eyebrow
And 72 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to RIPK4 gene
Here you will find a list of rare diseases related to the RIPK4. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
BARTSOCAS-PAPAS SYNDROME
Alternate names
BARTSOCAS-PAPAS SYNDROME Is also known as pterygium, popliteal, lethal type, autosomal recessive popliteal pterygium syndrome, bps, lethal popliteal pterygium syndrome, multiple pterygium syndrome, aslan type, bartsocas-papas syndrome
Description
Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome (see this term) characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported.
Most common symptoms of BARTSOCAS-PAPAS SYNDROME
- Intellectual disability
- Short stature
- Microcephaly
- Growth delay
- Hypertelorism
More info about BARTSOCAS-PAPAS SYNDROME
Search interest in RIPK4
Potential gene panels for RIPK4 gene
Congenital Contractures Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Congenital Contractures Panel that also includes the following genes: SKI SLC18A3 TNNI2 TNNT3 TPM2 TPM3 UBA1 ZMPSTE24 ACTA1 ADGRG6
More info about this panel United States.
Abnormal/Ambiguous Genitalia Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Abnormal/Ambiguous Genitalia Sequencing Panel that also includes the following genes: ROR2 SALL1 BMP4 SEMA3A SOX9 SRD5A2 SRY STAR TBX15 CEP41
More info about this panel United States.
RIPK4. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the RIPK4 gene.
More info about this panel Spain.
Bartsocas-Papas syndrome (sequence analysis of RIPK4 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the RIPK4 gene.
More info about this panel Portugal.
Popliteal Pterygium Syndrome 2, Lethal Type via RIPK4 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the RIPK4 gene.
More info about this panel United States.
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection Panel
United States.
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 United States.
Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection Panel
United States.
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 United States.
Ambiguous Genitalia Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Ambiguous Genitalia Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP4 SEMA3A SOS1 SOX10 SOX2 SOX3 SOX9 SRD5A2
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.
Popliteal pterygium syndrome Deletion / Duplication test Panel
United States.
By Connective Tissue Gene Tests Popliteal pterygium syndrome Deletion / Duplication test that also includes the following genes: RIPK4 IRF6
More info about this panel United States.
Popliteal pterygium syndrome NGS test Panel
United States.
By Connective Tissue Gene Tests Popliteal pterygium syndrome NGS test that also includes the following genes: RIPK4 IRF6
More info about this panel United States.
Popliteal pterygium syndrome Deletion / Duplication test Panel
United States.
By Connective Tissue Gene Tests Popliteal pterygium syndrome Deletion / Duplication test that also includes the following genes: RIPK4 IRF6
More info about this panel United States.
Popliteal pterygium syndrome, lethal type Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the RIPK4 gene.
More info about this panel Germany.
qGenEx Sex development disorders Panel
Spain.
By Quantitative Genomic Medicine Laboratories, SL qGenEx Sex development disorders that also includes the following genes: ROR2 SOX3 SOX9 SRD5A2 SRY STAR CEP41 TSPYL1 WNT4 WT1
More info about this panel Spain.
Bartsocas-Papas, Syndrome: RIPK4 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the RIPK4 gene.
More info about this panel Spain.
RIPK4 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the RIPK4 gene.
More info about this panel United States.
Arthrogryposes Panel Panel
Finland.
By Blueprint Genetics Arthrogryposes Panel that also includes the following genes: BIN1 SCO2 TGFB3 TK2 TNNI2 TNNT1 TNNT3 TPM2 TPM3 VPS33B
More info about this panel Finland.
Bartsocas-Papas syndrome Panel
Spain.
By Bioarray
This panel specifically test the RIPK4 gene.
More info about this panel Spain.
BARTSOCAS-PAPAS SYNDROME Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the RIPK4 gene.
More info about this panel Spain.
Bartsocas-Papas Syndrome, Sequencing RIPK4 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the RIPK4 gene.
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.
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