ANGPTL6 gene related symptoms and diseases

All the information presented here about the ANGPTL6 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ANGPTL6 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 ANGPTL6 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.

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Rare diseases associated to ANGPTL6 gene

Here you will find a list of rare diseases related to the ANGPTL6. 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




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