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  3. TGFBR3

TGFBR3 gene related symptoms and diseases

All the information presented here about the TGFBR3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to TGFBR3 gene

Symptoms // Phenotype % Cases
Seizures Very Common - Between 80% and 100% cases
Subarachnoid hemorrhage Very Common - Between 80% and 100% cases
Cerebral berry aneurysm Very Common - Between 80% and 100% cases
Encephalomalacia Very Common - Between 80% and 100% cases
Abnormality of brainstem morphology Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with TGFBR3 gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Oculomotor nerve palsy
  • Aortic dissection
  • Transient ischemic attack
  • Dilatation of the cerebral artery
  • Aortic root aneurysm
  • Hypertension
  • Visual field defect
  • Intracranial hemorrhage

And 7 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to TGFBR3 gene

Here you will find a list of rare diseases related to the TGFBR3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


FAMILIAL CEREBRAL SACCULAR ANEURYSM

Alternate names

FAMILIAL CEREBRAL SACCULAR ANEURYSM Is also known as aneurysmal subarachnoid hemorrhage, familial, familial intracranial saccular aneurysm, familial berry aneurysm

Description

Rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension, and excessive alcohol intake are associated with subarachnoid hemorrhage (summary by Krischek and Inoue, 2006). Genetic Heterogeneity of Intracranial Berry AneurysmIntracranial berry aneurysm-1 (ANIB1) has been mapped to chromosome 7q11.2.Other mapped loci for intracranial berry aneurysm include ANIB2 (OMIM ) on chromosome 19q13, ANIB3 (OMIM ) on 1p36.13-p34.3, ANIB4 (OMIM ) on 5p15.2-14.3, ANIB5 (OMIM ) on Xp22, ANIB6 (OMIM ) on 9p21, ANIB7 (OMIM ) on 11q24-q25, ANIB8 (OMIM ) on 14q23, ANIB9 (OMIM ) on 2q, ANIB10 (OMIM ) on 8q, and ANIB11 (OMIM ) on 8p22.

Most common symptoms of FAMILIAL CEREBRAL SACCULAR ANEURYSM

  • Seizures
  • Hypertension
  • Dilatation
  • Abnormality of the kidney
  • Coarctation of aorta


More info about FAMILIAL CEREBRAL SACCULAR ANEURYSM

SOURCES: MESH ORPHANET OMIM


Potential gene panels for TGFBR3 gene

Connective Tissue Disorders 22-gene panel Panel

United States.

By Center for Human Genetics, Inc Connective Tissue Disorders 22-gene panel that also includes the following genes: TGFB2 TGFBR1 TGFBR2 TGFBR3 ACTA2 NTM COL11A1 COL11A2 COL1A2 COL3A1

More info about this panel
United States.

TGFBR1, TGFBR2, FBN1, ACTA2, FBN2, ELN, TGFBR3. NextGeneDx.Complete sequencing by NGS Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica TGFBR1, TGFBR2, FBN1, ACTA2, FBN2, ELN, TGFBR3. NextGeneDx.Complete sequencing by NGS that also includes the following genes: TGFBR1 TGFBR2 TGFBR3 ACTA2 ELN FBN1 FBN2

More info about this panel
Spain.

AORTOPATHIES, FAMILIAL Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases AORTOPATHIES, FAMILIAL that also includes the following genes: TGFBR1 TGFBR2 TGFBR3 ACTA2 ADAMTSL4 FBN1 FBN2 SMAD3 MYLK

More info about this panel
Spain.

TGFBR3 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the TGFBR3 gene.

More info about this panel
United States.

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