COL5A1 gene related symptoms and diseases

All the information presented here about the COL5A1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

Top 5 symptoms and clinical features associated to COL5A1 gene

Symptoms // Phenotype	% Cases
Varicose veins	Very Common - Between 80% and 100% cases
Bruising susceptibility	Very Common - Between 80% and 100% cases
Aortic dissection	Very Common - Between 80% and 100% cases
Aortic aneurysm	Very Common - Between 80% and 100% cases
Hypertension	Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with COL5A1 gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases
Bladder diverticulum
Umbilical hernia
Inguinal hernia
Cigarette-paper scars
Joint dislocation
Hernia
Soft skin
Atrophic scars

And 167 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to COL5A1 gene

Here you will find a list of rare diseases related to the COL5A1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

EHLERS-DANLOS SYNDROME TYPE 1

Alternate names

EHLERS-DANLOS SYNDROME TYPE 1 Is also known as eds i

Description

Ehlers-Danlos syndrome, type I belongs to the classical type Ehlers-Danlos syndrome. It results most often from mutations in either the COL5A1 gene or the COL5A2 gene.

Most common symptoms of EHLERS-DANLOS SYNDROME TYPE 1

Scoliosis
Hypertension
Hernia
Pectus excavatum
Inguinal hernia

More info about EHLERS-DANLOS SYNDROME TYPE 1

SOURCES: MESH ORPHANET

EHLERS-DANLOS SYNDROME, VASCULAR TYPE

Alternate names

EHLERS-DANLOS SYNDROME, VASCULAR TYPE Is also known as ehlers-danlos syndrome, type iv, autosomal dominant, eds type 4, ehlers-danlos syndrome type 4, ehlers-danlos syndrome type iv, ehlers-danlos syndrome, ecchymotic type, ehlers-danlos syndrome, arterial type, eds4, sack-barabas syndrome, eds iv, ehlers-danlos syndr

Description

Ehlers-Danlos syndrome type IV, also known as the vascular type of Ehlers-Danlos syndrome (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS.

Most common symptoms of EHLERS-DANLOS SYNDROME, VASCULAR TYPE

Global developmental delay
Short stature
Hypertelorism
Pain
Cryptorchidism

More info about EHLERS-DANLOS SYNDROME, VASCULAR TYPE

SOURCES: ORPHANET OMIM

EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1; EDSCL1

Alternate names

EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1; EDSCL1 Is also known as ehlers-danlos syndrome, gravis type, formerly, eds i, formerly, eds1, formerly, ehlers-danlos syndrome, type i, formerly, ehlers-danlos syndrome, severe classic type, formerly

Description

The Ehlers-Danlos syndromes (EDS) are a group of heritable connective tissue disorders that share the common features of skin hyperextensibility, articular hypermobility, and tissue fragility. The main features of classic Ehlers-Danlos syndrome are loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars (Beighton, 1993). Genetic Heterogeneity of Classic Ehlers-Danlos SyndromeSee EDSCL2 (OMIM ), caused by mutation in the COL5A2 gene (OMIM ) on chromosome 2q32. Classification of Ehlers-Danlos SyndromeThe current OMIM classification of Ehlers-Danlos syndromes is based on a 2017 international classification described by Malfait et al. (2017), which recognizes 13 EDS subtypes: classic, classic-like ({606408}, {618000}), cardiac-valvular (OMIM ), vascular (OMIM ), hypermobile (OMIM ), arthrochalasia ({130060}, {617821}), dermatosparaxis (OMIM ), kyphoscoliotic ({225400}, {614557}), spondylodysplastic ({130070}, {615349}), musculocontractural ({601776}, {615539}), myopathic (OMIM ), periodontal ({130080}, {617174}), and brittle cornea syndrome ({229200}, {614170}). This classification is a revision of the 'Villefranche classification' reported by Beighton et al. (1998), which was widely used in the literature and in OMIM. For a description of the Villefranche classification, see HISTORY.In an early classification of EDS, the designations EDS I and EDS II were used for severe and mild forms of classic EDS, respectively. EDS I was characterized by marked skin involvement and generalized, gross joint laxity, with musculoskeletal deformity and diverse orthopedic complications. Prematurity occurred in approximately 50% of cases. Internal complications such as aortic and bowel rupture were occasionally present. EDS II had all the stigmata of EDS I, but to a minor degree (summary by Steinmann et al., 2002). Both were considered to be forms of classic EDS.

Most common symptoms of EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1; EDSCL1

Short stature
Generalized hypotonia
Motor delay
Hypertension
Epicanthus

More info about EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1; EDSCL1

SOURCES: OMIM MESH

EHLERS-DANLOS SYNDROME TYPE 2

Alternate names

EHLERS-DANLOS SYNDROME TYPE 2 Is also known as eds ii, eds2, formerly, eds ii, formerly, ehlers danlos syndrome, mitis type, formerly, ehlers danlos syndrome, mild classic type, formerly, ehlers-danlos syndrome, type ii, formerly

Description

Most common symptoms of EHLERS-DANLOS SYNDROME TYPE 2

Hypertension
Hernia
Pectus excavatum
Inguinal hernia
Gastroesophageal reflux

More info about EHLERS-DANLOS SYNDROME TYPE 2

SOURCES: ORPHANET MESH OMIM

Search interest in COL5A1

Potential gene panels for COL5A1 gene

MitoMet®Plus aCGH Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65

COL5A1 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to COL5A1 gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Rare diseases associated to COL5A1 gene

EHLERS-DANLOS SYNDROME TYPE 1

Alternate names

Description

Most common symptoms of EHLERS-DANLOS SYNDROME TYPE 1

EHLERS-DANLOS SYNDROME, VASCULAR TYPE

Alternate names

Description

Most common symptoms of EHLERS-DANLOS SYNDROME, VASCULAR TYPE

EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1; EDSCL1

Alternate names

Description

Most common symptoms of EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1; EDSCL1

EHLERS-DANLOS SYNDROME TYPE 2

Alternate names

Description

Most common symptoms of EHLERS-DANLOS SYNDROME TYPE 2

Search interest in COL5A1

Potential gene panels for COL5A1 gene

MitoMet®Plus aCGH Analysis Panel

Low Bone Mass Panel (MitomeNGS) Panel

COL5A1 Sequence Analysis (Prenatal Diagnosis) Panel

COL5A1 Sequence Analysis Panel

COL5A1 Sequence Analysis (Familial Mutation/Variant Analysis) Panel

COL5A2 Sequence Analysis Panel

COL5A2 Sequence Analysis (Prenatal Diagnosis) Panel

COL5A2 Sequence Analysis (Familial Mutation/Variant Analysis) Panel

NGS Aortic Dysfunction or Dilation and Related Disorders Panel Panel

NGS Connective Tissue Disorders Panel Panel

Ehlers-Danlos Type I/II (COL5A1/COL5A2) Panel

Connective Tissue Disorders 22-gene panel Panel

Ehlers-Danlos syndrome, types I & II genomic sequencing and deleltion/duplication analysis Panel

X-linked Alport syndrome genomic sequencing and deletion/duplication analysis Panel

Comprehensive Ehlers-Danlos Syndrome Panel Panel

Cardiomyopathy Panel Panel

Connective Tissue Disorders Panel Panel

Familial Aneurysm and Aortopathy Panel

COL5A1 Sequencing Panel

COL5A1 Deletion/duplication analysis Panel

COL5A1 Panel

Aortopathy Panel, Sequencing and Deletion/Duplication Panel

Marfan/TAAD Sequencing Panel Panel

Marfan Syndrome/TAAD Del/Dup Panel Panel

Marfan/TAAD Sequencing & Del/Dup Panel Panel

Connective Tissue Disorders Panel Panel

Ehlers-Danlos Syndrome Panel Panel

Ehlers-Danlos Syndrome, Classical Type Panel

COL3A1 gene sequence and deletion/duplication reflex TAADNext Panel

CustomNext: Cardio Panel

TAADNext Panel

FBN1 gene sequence and deletion/duplication reflex TAADNext Panel

COL3A1, COL5A1, COL5A2. NextGeneDx.Complete sequencing by NGS Panel

COL5A1. Complete sequencing Panel

COL5A1, COL5A2. NextGeneDx.Complete sequencing by NGS Panel

Connective Tissue Seq Analysis Panel

Connective Tissue Seq + Del/Dup Panel Panel

Connective Tissue Del/Dup Panel Panel

Ehlers-Danlos Syndrome type I (deletion/duplication analysis of COL5A1 gene) Panel

Ehlers-Danlos Syndrome type I (sequence analysis of COL5A1 gene) Panel

Ehlers-Danlos syndrome (NGS panel for 12 genes) Panel

Marfan Syndrome and Related Aortopathies Sequencing Panel with CNV Detection Panel

Ehlers-Danlos Syndromes Sequencing Panel with CNV Detection Panel

Ehlers-Danlos Syndrome, Classic Type via COL5A1 Gene Sequencing with CNV Detection Panel

Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel

Ehlers-Danlos syndrome core NGS panel Panel

Ehlers-Danlos syndrome NGS panel - Dominant & Recessive Panel

Ehlers-Danlos syndrome core Deletion / Duplication panel Panel

Ehlers-Danlos syndrome Comprehensive panel - Dominant Panel

Ehlers-Danlos syndrome NGS panel - Dominant Panel

Ehlers-Danlos syndrome core Comprehensive panel Panel

Ehlers-Danlos syndrome Deletion / Duplication panel - Dominant Panel

Ehlers-Danlos syndrome Deletion / Duplication panel - Dominant & Recessive Panel

Ehlers-Danlos syndrome Comprehensive panel - Dominant & Recessive Panel

Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders Comprehensive panel Panel

Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders Deletion / Duplication panel Panel

Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel Panel