RSPO2 gene related symptoms and diseases
All the information presented here about the RSPO2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to RSPO2 gene
Symptoms // Phenotype | % Cases |
---|---|
Micrognathia | Common - Between 50% and 80% cases |
Oral cleft | Common - Between 50% and 80% cases |
Tetraamelia | Common - Between 50% and 80% cases |
Septo-optic dysplasia | Uncommon - Between 30% and 50% cases |
Aplasia/Hypoplasia involving the nose | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with RSPO2 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Aplasia/Hypoplasia involving the pelvis
- Low-set ears
- Ventricular septal defect
- Cleft lip
- Pulmonary hypoplasia
- Microretrognathia
- Aplasia/Hypoplasia of the nipples
- Bilateral cleft lip
And 29 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to RSPO2 gene
Here you will find a list of rare diseases related to the RSPO2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
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
TETRAAMELIA SYNDROME 2; TETAMS2
Alternate names
TETRAAMELIA SYNDROME 2; TETAMS2 Is also known as tetraamelia syndrome 2 with pulmonary agenesis
Description
Tetraamelia syndrome-2 (TETAMS2) is characterized by rudimentary appendages or complete absence of the limbs, usually symmetric, as well as bilateral agenesis of the lungs. There are abnormalities of the pulmonary vasculature and dysmorphic features, including bilateral cleft lip/palate, ankyloglossia, mandibular hypoplasia, microretrognathia, and labioscrotal fold aplasia (Szenker-Ravi et al., 2018).For a discussion of genetic heterogeneity of TETAMS, see {273395}.
Most common symptoms of TETRAAMELIA SYNDROME 2; TETAMS2
- Micrognathia
- Low-set ears
- Ventricular septal defect
- Cleft lip
- Oral cleft
More info about TETRAAMELIA SYNDROME 2; TETAMS2
SOURCES: OMIM
HUMEROFEMORAL HYPOPLASIA WITH RADIOTIBIAL RAY DEFICIENCY; HHRRD
Alternate names
HUMEROFEMORAL HYPOPLASIA WITH RADIOTIBIAL RAY DEFICIENCY; HHRRD Is also known as hfhrtrd
Description
Humerofemoral hypoplasia with radiotibial ray deficiency is a severe dysostosis characterized by reduction of all 4 limbs as well as hypoplasia of the upper limb girdle and pelvis. Rudimentary finger- or toe-like appendages may be present (Szenker-Ravi et al., 2018).
Most common symptoms of HUMEROFEMORAL HYPOPLASIA WITH RADIOTIBIAL RAY DEFICIENCY; HHRRD
- Flexion contracture
- Talipes equinovarus
- Hernia
- Congenital diaphragmatic hernia
- Pterygium
More info about HUMEROFEMORAL HYPOPLASIA WITH RADIOTIBIAL RAY DEFICIENCY; HHRRD
SOURCES: OMIM
Search interest in RSPO2
Potential gene panels for RSPO2 gene
RSPO2 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the RSPO2 gene.
More info about this panelTempus xO assay Panel
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 panelPrimBio Colorectal Cancer Panel Panel
By PrimBio Research Institute PrimBio Research Institute PrimBio Colorectal Cancer Panel that also includes the following genes: BLM BMPR1A SCG5 BRAF BRCA1 STK11 BUB1B EPCAM TCF7L2 TGFBR2
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like KCNA5 DOP1A WIPF1 GHR HAAO GBA SLC1A1