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.

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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

SOURCES: OMIM ORPHANET

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

SOURCES: ORPHANET MESH OMIM


Potential gene panels for ANTXR1 gene

Vascular Malformations NGS Multi-Gene Panel (21 Genes) Panel

Netherlands.

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 panel

GAPO syndrome (sequence analysis of ANTXR1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ANTXR1 gene.

More info about this panel

GAPO Syndrome via ANTXR1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the ANTXR1 gene.

More info about this panel

Hemangioma capillary infantile Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ANTXR1 gene.

More info about this panel

Hemangioma capillary infantile Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ANTXR1 gene.

More info about this panel

Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel Panel

Germany.

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 panel

ANTXR1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ANTXR1 gene.

More info about this panel

Neuro-Ophthalmology Panel Panel

Finland.

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 panel

GAPO SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the ANTXR1 gene.

More info about this panel

CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel Panel

Canada.

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 panel


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