ANTXR1 gene related symptoms and diseases
All the information presented here about the ANTXR1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ANTXR1 gene
Symptoms // Phenotype | % Cases |
---|---|
Hemangioma | Very Common - Between 80% and 100% cases |
Increased intracranial pressure | Uncommon - Between 30% and 50% cases |
Keratoconus | Uncommon - Between 30% and 50% cases |
Abnormality of the thorax | Uncommon - Between 30% and 50% cases |
Sparse eyebrow | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with ANTXR1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Hyperextensible skin
- Abnormality of pelvic girdle bone morphology
- Hypopigmented skin patches
- Intellectual disability
- Hypoplastic nipples
- Abnormality of the outer ear
- Abnormal palate morphology
- Atherosclerosis
And 64 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ANTXR1 gene
Here you will find a list of rare diseases related to the ANTXR1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
GAPO SYNDROME
Alternate names
GAPO SYNDROME Is also known as growth delay-alopecia-pseudoanodontia-optic atrophy syndrome, odontotrichomelic syndrome, growth retardation, alopecia, pseudoanodontia, and optic atrophy
Description
GAPO syndrome is a multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestations
Most common symptoms of GAPO SYNDROME
- Intellectual disability
- Short stature
- Hearing impairment
- Growth delay
- Hypertelorism
More info about GAPO SYNDROME
HEMANGIOMA, CAPILLARY INFANTILE
Alternate names
HEMANGIOMA, CAPILLARY INFANTILE Is also known as hci, hemangioma, hereditary capillary
Description
Capillary hemangiomas are benign, highly proliferative lesions involving aberrant localized growth of capillary endothelium. They are the most common tumor of infancy, occurring in up to 10% of all births (Mulliken and Young, 1988). Hemangiomas tend to appear shortly after birth and show rapid neonatal growth for up to 12 months characterized by endothelial hypercellularity and increased numbers of mast cells. This phase is followed by slow involution at a rate of about 10% per year and replacement by fibrofatty stroma. Hemangiomas are classified as distinct from vascular malformations (see, e.g., CMC1, {163000}; {108010}; and CCM, {116860}), in that the latter are present from birth, tend to grow with the individual, do not regress, and show normal rates of endothelial cell turnover (Spring and Bentz, 2005; Legiehn and Heran, 2006). Legiehn and Heran (2006) noted that the term 'hemangioma' in adults is considered inaccurate and should be discarded.Most hemangiomas occur sporadically, but some families with autosomal dominant inheritance have been reported (Walter et al., 1999).
Most common symptoms of HEMANGIOMA, CAPILLARY INFANTILE
- Neoplasm
- Hemangioma
- Capillary hemangioma
More info about HEMANGIOMA, CAPILLARY INFANTILE
Search interest in ANTXR1
Potential gene panels for ANTXR1 gene
Vascular Malformations NGS Multi-Gene Panel (21 Genes) Panel
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam Vascular Malformations NGS Multi-Gene Panel (21 Genes) that also includes the following genes: BMPR2 SOX18 TEK GLMN CAV1 KRIT1 ACVRL1 DOCK6 ANTXR1 CCM2
More info about this panelGAPO syndrome (sequence analysis of ANTXR1 gene) Panel
By CGC Genetics
This panel specifically test the ANTXR1 gene.
More info about this panelGAPO Syndrome via ANTXR1 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the ANTXR1 gene.
More info about this panelHemangioma capillary infantile Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the ANTXR1 gene.
More info about this panelHemangioma capillary infantile Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the ANTXR1 gene.
More info about this panelEctodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel Panel
By CeGaT GmbH Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel that also includes the following genes: BCS1L SNRPE SOX18 ST14 TRPS1 IFT122 WNT10A EDARADD SHOC2 LPAR6
More info about this panelANTXR1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ANTXR1 gene.
More info about this panelNeuro-Ophthalmology Panel Panel
By Blueprint Genetics Neuro-Ophthalmology Panel that also includes the following genes: SLC25A4 SOX2 SPG7 TWNK ACO2 TIMM8A TK2 WFS1 ROBO3 SALL4
More info about this panelGAPO SYNDROME Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the ANTXR1 gene.
More info about this panelCEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel that also includes the following genes: RNASEL RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2
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 NAA15 PRSS2 FANCL AMER1 NCF2 NDUFS1 ANGPTL3