FBLN5 gene related symptoms and diseases

All the information presented here about the FBLN5 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,NCBIGENE,OMIM, 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 FBLN5 gene

Symptoms // Phenotype	% Cases
Redundant skin	Common - Between 50% and 80% cases
Premature skin wrinkling	Common - Between 50% and 80% cases
Cutis laxa	Common - Between 50% and 80% cases
Joint hyperflexibility	Uncommon - Between 30% and 50% cases
Bowel diverticulosis	Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with FBLN5 gene alterations may also develop some of the following symptoms and phenotypes:

Not very common - Between 30% and 50% cases
Pulmonary artery stenosis
Emphysema
Aortic aneurysm
Abnormality of the face
Mitral regurgitation
Hyperextensible skin
Full cheeks
Prematurely aged appearance

And 104 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to FBLN5 gene

Here you will find a list of rare diseases related to the FBLN5. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

AUTOSOMAL DOMINANT CUTIS LAXA

Alternate names

AUTOSOMAL DOMINANT CUTIS LAXA Is also known as adcl

Description

Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement.

Most common symptoms of AUTOSOMAL DOMINANT CUTIS LAXA

Generalized hypotonia
Hypertelorism
Feeding difficulties
Fatigue
Respiratory distress

More info about AUTOSOMAL DOMINANT CUTIS LAXA

SOURCES: OMIM ORPHANET

AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1

Alternate names

AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1 Is also known as arcl1, autosomal recessive cutis laxa with severe systemic involvement, cutis laxa, autosomal recessive, autosomal recessive cutis laxa, pulmonary emphysema type

Description

Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli).

Most common symptoms of AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1

Intellectual disability
Global developmental delay
Hearing impairment
Microcephaly
Sensorineural hearing impairment

More info about AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1

SOURCES: ORPHANET MESH OMIM

HEREDITARY SENSORIMOTOR NEUROPATHY WITH HYPERELASTIC SKIN

Description

Hereditary sensorimotor neuropathy with hyperelastic skin is a rare, genetic, demyelinating hereditary motor and sensory neuropathy disorder characterized by slowly progressive, mild to moderate, distal muscle weakness and atrophy of the upper and lower limbs and variable distal sensory impairment, associated with variable hyperextensible skin and age-related macular degeneration. Hypermobility of distal joints, high palate, and minor skeletal abnormalities (e.g. pectus excavatus, dolichocephaly) may also be associated.

More info about HEREDITARY SENSORIMOTOR NEUROPATHY WITH HYPERELASTIC SKIN

SOURCES: ORPHANET

NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION; HNARMD

Description

Hereditary neuropathy with or without age-related macular degeneration is a complex autosomal dominant syndrome characterized by a variable peripheral neuropathy resembling demyelinating Charcot-Marie-Tooth disease (see, e.g., CMT1A, {118220}) and/or axonal CMT (see, e.g., CMT2A1, {118210}) with sensorimotor impairment mainly of the distal lower extremities, or spinal CMT, also known as distal hereditary motor neuropathy (see, e.g., HMN1; {182960}) with intact sensation. Age-related macular degeneration, if present, shows very late onset in the seventies or eighties. In addition, some patients may show hyperelasticity of the skin or joints. The age at onset of neuropathy and severity of the disorder is highly variable, even within families (summary by Auer-Grumbach et al., 2011).For a phenotypic description and a discussion of genetic heterogeneity of age-related macular degeneration, see {603075}.

Most common symptoms of NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION; HNARMD

Muscle weakness
High palate
Peripheral neuropathy
Skeletal muscle atrophy
Abnormality of the skeletal system

More info about NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION; HNARMD

SOURCES: OMIM MESH

CUTIS LAXA, AUTOSOMAL DOMINANT 2; ADCL2

Description

Cutis laxa is a connective tissue disorder characterized by loose skin and variable internal organ involvement resulting from a paucity of elastic fibers (summary by Markova et al., 2003).For a complete phenotypic description and a discussion of genetic heterogeneity of autosomal dominant cutis laxa, see ADCL1 (OMIM ).

Most common symptoms of CUTIS LAXA, AUTOSOMAL DOMINANT 2; ADCL2

Scoliosis
Mitral regurgitation
Cutis laxa
Hyperextensible skin
Redundant skin

More info about CUTIS LAXA, AUTOSOMAL DOMINANT 2; ADCL2

SOURCES: OMIM

Search interest in FBLN5

Potential gene panels for FBLN5 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

FBLN5 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to FBLN5 gene

Other less frequent symptoms and clinical features

Not very common - Between 30% and 50% cases

Rare diseases associated to FBLN5 gene

AUTOSOMAL DOMINANT CUTIS LAXA

Alternate names

Description

Most common symptoms of AUTOSOMAL DOMINANT CUTIS LAXA

AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1

Alternate names

Description

Most common symptoms of AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1

HEREDITARY SENSORIMOTOR NEUROPATHY WITH HYPERELASTIC SKIN

Description

NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION; HNARMD

Description

Most common symptoms of NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION; HNARMD

CUTIS LAXA, AUTOSOMAL DOMINANT 2; ADCL2

Description

Most common symptoms of CUTIS LAXA, AUTOSOMAL DOMINANT 2; ADCL2

Search interest in FBLN5

Potential gene panels for FBLN5 gene

MitoMet®Plus aCGH Analysis Panel

NGS Aortic Dysfunction or Dilation and Related Disorders Panel Panel

NGS Connective Tissue Disorders Panel Panel

Macular Degeneration Panel Panel

Comprehensive Pulmonary Panel Panel

FBLN5 Panel

Cystic Lung Disease Panel (8 Genes) Panel

PulmoGene Panel (64 Genes) Panel

Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel Panel

Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel, Sequencing Panel

Connective Tissue Disorders Panel Panel

Cutis Laxa Panel Panel

FBLN5. Complete sequencing Panel

Cutis laxa, autosomal recessive, type IA (sequence analysis of FBLN5 gene) Panel

Cutis laxa, autosomal recessive, type IA (sequence analysis of FBLN5 gene) Panel

Marfan Syndrome and Related Aortopathies Sequencing Panel with CNV Detection Panel

Ehlers-Danlos Syndromes Sequencing Panel with CNV Detection Panel

Charcot Marie Tooth - Demyelinating Neuropathy Sequencing Panel with CNV Detection Panel

Charcot Marie Tooth - Comprehensive Sequencing Panel with CNV Detection Panel

Cutis Laxa via FBLN5 Gene Sequencing with CNV Detection Panel

Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel

Comprehensive Neuropathy Sequencing Panel with CNV Detection Panel

Cutis laxa Deletion / Duplication panel Panel

Cutis laxa NGS panel Panel

Cutis laxa Comprehensive panel Panel

Neuropathy Panel

FBLN5 Panel

Cutis laxa panel Panel

Macular degeneration, age-related type 3 Panel

Cutis laxa type 2, autosomal dominant Panel

AllNeuro panel Panel

Cutis laxa type 1A, autosomal recessive Panel

Comprehensive pulmonary disease panel Panel

Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm Panel

Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm Panel

Charcot-Marie-Tooth and Sensory Neuropathies Panel Panel

Ehlers-Danlos Syndrome Panel

FBNL5 mutational analysis Panel

Cutis laxa gene panel Panel

NGS panel - Cutis laxa Panel

Connective Tissue Disorders: Sequencing Panel Panel

Pulmonary Disease: Comprehensive Sequencing Panel Panel

Cystic Lung Disease: Sequencing Panel Panel

Connective Tissue Disorders: Deletion/Duplication Panel Panel

Cystic Lung Disease: Deletion/Duplication Panel Panel

Connective Tissue NGS Panel Panel

Cystic Lung Disease NGS Panel Panel

Lung Disorders NGS Panel Panel

Macular Degeneration NGS Panel Panel

Intellectual Disability NGS Panel Panel

FBLN5 Panel

Cutis Laxa Panel Panel

Cystic Lung Disease Panel Panel

Charcot-Marie-Tooth Neuropathy Panel Panel

Aorta Panel Panel

Ehlers-Danlos Syndrome Panel Panel

Comprehensive Pulmonology Panel Panel