CAV1 gene related symptoms and diseases
All the information presented here about the CAV1 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.
Top 5 symptoms and clinical features associated to CAV1 gene
Symptoms // Phenotype | % Cases |
---|---|
Pulmonary arterial hypertension | Uncommon - Between 30% and 50% cases |
Lipodystrophy | Uncommon - Between 30% and 50% cases |
Insulin resistance | Uncommon - Between 30% and 50% cases |
Hypertriglyceridemia | Uncommon - Between 30% and 50% cases |
Dyspnea | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with CAV1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Pancreatitis
- Acanthosis nigricans
- Nausea and vomiting
- Renal insufficiency
- Dysphagia
Rarely - Less than 30% cases
- Diabetes mellitus
- Cataract
- Hirsutism
And 172 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to CAV1 gene
Here you will find a list of rare diseases related to the CAV1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
STEVENS-JOHNSON SYNDROME
Alternate names
STEVENS-JOHNSON SYNDROME Is also known as dermatostomatitis, stevens johnson type
Description
Stevens-Johnson syndrome is a limited form of toxic epidermal necrolysis (see this term) characterized by destruction and detachment of the skin epithelium and mucous membranes involving less than 10% of the body surface area.
Most common symptoms of STEVENS-JOHNSON SYNDROME
- Anemia
- Visual impairment
- Fever
- Fatigue
- Dysphagia
More info about STEVENS-JOHNSON SYNDROME
LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 3; CGL3
Alternate names
LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 3; CGL3 Is also known as berardinelli-seip congenital lipodystrophy, type 3, bscl3, lipodystrophy, berardinelli-seip congenital, type 3
Description
Congenital generalized lipodystrophy, also known as Berardinelli-Seip syndrome, is an autosomal recessive disorder characterized by marked paucity of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis, and early onset of diabetes (Garg, 2004).For a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 (OMIM ).See also partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome (LCCNS ), which is associated with heterozygous mutation in the CAV1 gene.
Most common symptoms of LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 3; CGL3
- Short stature
- Cataract
- Diabetes mellitus
- Hepatosplenomegaly
- Congenital cataract
More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 3; CGL3
LIMITED CUTANEOUS SYSTEMIC SCLEROSIS
Alternate names
LIMITED CUTANEOUS SYSTEMIC SCLEROSIS Is also known as limited cutaneous systemic scleroderma
Description
Limited cutaneous systemic sclerosis (lcSSc) is a subtype of systemic sclerosis (SSc; see this term) characterized by the association of Raynaud's phenomenon with skin fibrosis limited to the hands, face, feet and forearms.
Most common symptoms of LIMITED CUTANEOUS SYSTEMIC SCLEROSIS
- Dysphagia
- Gastroesophageal reflux
- Autoimmunity
- Nausea and vomiting
- Abnormality of skin pigmentation
More info about LIMITED CUTANEOUS SYSTEMIC SCLEROSIS
SOURCES: ORPHANET
DIFFUSE CUTANEOUS SYSTEMIC SCLEROSIS
Alternate names
DIFFUSE CUTANEOUS SYSTEMIC SCLEROSIS Is also known as progressive cutaneous systemic scleroderma, diffuse cutaneous systemic scleroderma, progressive cutaneous systemic sclerosis
Description
Diffuse cutaneous systemic sclerosis (dcSSc) is a subtype of Systemic Sclerosis (SSc; see this term) characterized by truncal and acral skin fibrosis with an early and significant incidence of diffuse involvement (interstitial lung disease, oliguric renal failure, diffuse gastrointestinal disease, and myocardial involvement).
Most common symptoms of DIFFUSE CUTANEOUS SYSTEMIC SCLEROSIS
- Muscle weakness
- Pain
- Flexion contracture
- Hypertension
- Dysphagia
More info about DIFFUSE CUTANEOUS SYSTEMIC SCLEROSIS
SOURCES: ORPHANET
BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY
Alternate names
BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY Is also known as lipoatrophic diabetes, generalized congenital lipodystrophy, gcl, brunzell syndrome, bscl, beradinelli-seip syndrome
Description
Berardinelli-Seip congenital lipodystrophy (BSCL) is characterized by the association of lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. BSCL belongs to the group of extreme insulin resistance syndromes, which also includes leprechaunism, Rabson-Mendenhall syndrome, acquired generalized lipodystrophy, and types A and B insulin resistance (see these terms).
Most common symptoms of BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY
- Intellectual disability
- Global developmental delay
- Short stature
- Scoliosis
- Growth delay
More info about BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY
SOURCES: ORPHANET
PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME; LCCNS
Alternate names
PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME; LCCNS Is also known as lipodystrophy, partial, with congenital cataracts and neurodegeneration
Most common symptoms of PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME; LCCNS
- Ataxia
- Nystagmus
- Micrognathia
- Cataract
- Babinski sign
More info about PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME; LCCNS
SOURCES: OMIM
PULMONARY HYPERTENSION, PRIMARY, 3; PPH3
Most common symptoms of PULMONARY HYPERTENSION, PRIMARY, 3; PPH3
- Hypertension
- Dyspnea
- Pulmonary arterial hypertension
- Elevated pulmonary artery pressure
- Increased pulmonary vascular resistance
More info about PULMONARY HYPERTENSION, PRIMARY, 3; PPH3
SOURCES: OMIM
HERITABLE PULMONARY ARTERIAL HYPERTENSION
Alternate names
HERITABLE PULMONARY ARTERIAL HYPERTENSION Is also known as hpah, hereditary pulmonary arterial hypertension, familial pulmonary arterial hypertension, fpah
Description
Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH, see this term), occurring due to mutations in PAH predisposing genes or in a familial context. HPAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. HPAH is progressive and potentially fatal.
More info about HERITABLE PULMONARY ARTERIAL HYPERTENSION
SOURCES: ORPHANET
Search interest in CAV1
Potential gene panels for CAV1 gene
Comprehensive Pulmonary Panel Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Comprehensive Pulmonary Panel that also includes the following genes: RPGR SCNN1A SCNN1B SCNN1G BMPR1B BMPR2 SFTPA1 SFTPA2 SFTPB SFTPC
More info about this panelArterial Hypertension Panel Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Arterial Hypertension Panel that also includes the following genes: BMPR1B BMPR2 CAV1 ACVRL1 ABCA3 ENG GDF2 KCNA5 KCNK3 SMAD4
More info about this panelPulmonary Arterial Hypertension Panel Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Pulmonary Arterial Hypertension Panel that also includes the following genes: BMPR2 CAV1 ACVRL1 ABCA3 ENG GDF2 KCNA5 KCNK3 SMAD4 SMAD9
More info about this panelPartial Lipodystrophy Deletion/Duplication Panel Panel
By Genetic Services Laboratory University of Chicago Partial Lipodystrophy Deletion/Duplication Panel that also includes the following genes: ZMPSTE24 CAV1 TBC1D4 CIDEC ADRA2A AKT2 LIPE LMNA LMNB2 PIK3R1
More info about this panelCongenital Generalized Lipodystrophy Deletion/Duplication Panel Panel
By Genetic Services Laboratory University of Chicago Congenital Generalized Lipodystrophy Deletion/Duplication Panel that also includes the following genes: CAV1 BSCL2 AGPAT2 FBN1 KCNJ6 CAVIN1
More info about this panelComprehensive Lipodystrophy Deletion/Duplication Panel Panel
By Genetic Services Laboratory University of Chicago Comprehensive Lipodystrophy Deletion/Duplication Panel that also includes the following genes: ZMPSTE24 CAV1 BSCL2 TBC1D4 CIDEC ADRA2A AGPAT2 FBN1 AKT2 KCNJ6
More info about this panelComprehensive Lipodystrophy Panel Panel
By Genetic Services Laboratory University of Chicago Comprehensive Lipodystrophy Panel that also includes the following genes: ZMPSTE24 CAV1 BSCL2 TBC1D4 CIDEC ADRA2A AGPAT2 FBN1 AKT2 KCNJ6
More info about this panelCongenital Generalized Lipodystrophy Panel Panel
By Genetic Services Laboratory University of Chicago Congenital Generalized Lipodystrophy Panel that also includes the following genes: CAV1 BSCL2 AGPAT2 FBN1 KCNJ6 CAVIN1
More info about this panelPartial Lipodystrophy Panel Panel
By Genetic Services Laboratory University of Chicago Partial Lipodystrophy Panel that also includes the following genes: ZMPSTE24 CAV1 TBC1D4 CIDEC ADRA2A AKT2 LIPE LMNA LMNB2 PIK3R1
More info about this panelAtaxia Exome Panel Panel
By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2
More info about this panelPulmonary Arterial Hypertension (PAH) Panel, Sequencing and Deletion/Duplication Panel
By ARUP Laboratories, Molecular Genetics and Genomics Pulmonary Arterial Hypertension (PAH) Panel, Sequencing and Deletion/Duplication that also includes the following genes: BMPR2 CAV1 ACVRL1 ENG KCNK3
More info about this panelVascular Malformations Panel, Sequencing and Deletion/Duplication Panel
By ARUP Laboratories, Molecular Genetics and Genomics Vascular Malformations Panel, Sequencing and Deletion/Duplication that also includes the following genes: BMPR2 TEK GLMN CAV1 KRIT1 ACVRL1 CCM2 ENG GDF2 KCNK3
More info about this panelVascular Malformations NGS Multi-Gene Panel (21 Genes) Panel
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 panelPulmonary Hypertension Seq + Del/Dup Panel Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Pulmonary Hypertension Seq + Del/Dup Panel that also includes the following genes: BMPR1B BMPR2 CAV1 ACVRL1 EIF2AK4 ENG FOXF1 GDF2 KCNA5 KCNK3
More info about this panelPulmonary Hypertension Seq Analysis Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Pulmonary Hypertension Seq Analysis that also includes the following genes: BMPR1B BMPR2 CAV1 ACVRL1 EIF2AK4 ENG FOXF1 GDF2 KCNA5 KCNK3
More info about this panelPulmonary Hypertension Del/Dup Panel Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Pulmonary Hypertension Del/Dup Panel that also includes the following genes: BMPR1B BMPR2 CAV1 ACVRL1 EIF2AK4 ENG FOXF1 GDF2 KCNA5 KCNK3
More info about this panelComprehensive Pulmonary-Vascular Seq Analysis Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Comprehensive Pulmonary-Vascular Seq Analysis that also includes the following genes: RPGR BMPR1B BMPR2 SFTPB SLC7A7 SPAG1 TERC TERT NKX2-1 RSPH1
More info about this panelComprehensive Pulmonary-Vascular Del/Dup Panel Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Comprehensive Pulmonary-Vascular Del/Dup Panel that also includes the following genes: RPGR BMPR1B BMPR2 SFTPB SLC7A7 SPAG1 TERC TERT NKX2-1 RSPH1
More info about this panelComprehensive Pulmonary-Vascular Seq + Del/Dup Panel Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Comprehensive Pulmonary-Vascular Seq + Del/Dup Panel that also includes the following genes: RPGR BMPR1B BMPR2 SFTPB SLC7A7 SPAG1 TERC TERT NKX2-1 RSPH1
More info about this panelLipodystrophies (NGS panel for 17 genes) Panel
By CGC Genetics Lipodystrophies (NGS panel for 17 genes) that also includes the following genes: ZMPSTE24 CAV1 BSCL2 TBC1D4 CIDEC AGPAT2 FBN1 AKT2 LIPE LMNA
More info about this panelProgeroid syndromes (NGS panel for 12 genes) Panel
By CGC Genetics Progeroid syndromes (NGS panel for 12 genes) that also includes the following genes: BLM WRN ZMPSTE24 CAV1 BANF1 SPRTN ERCC6 ERCC8 FBN1 KCNJ6
More info about this panelLipodystrophies and progeroid syndromes (NGS panel for 25 genes) Panel
By CGC Genetics Lipodystrophies and progeroid syndromes (NGS panel for 25 genes) that also includes the following genes: BLM WRN ZMPSTE24 CAV1 BSCL2 BANF1 TBC1D4 CIDEC SPRTN AGPAT2
More info about this panelProgeroid syndromes (NGS panel for 12 genes) Panel
By CGC Genetics Progeroid syndromes (NGS panel for 12 genes) that also includes the following genes: BLM WRN ZMPSTE24 CAV1 BANF1 SPRTN ERCC6 ERCC8 FBN1 KCNJ6
More info about this panelLipodystrophies (NGS panel for 17 genes) Panel
By CGC Genetics Lipodystrophies (NGS panel for 17 genes) that also includes the following genes: ZMPSTE24 CAV1 BSCL2 TBC1D4 CIDEC AGPAT2 FBN1 AKT2 LIPE LMNA
More info about this panelLipodystrophies and progeroid syndromes (NGS panel for 25 genes) Panel
By CGC Genetics Lipodystrophies and progeroid syndromes (NGS panel for 25 genes) that also includes the following genes: BLM WRN ZMPSTE24 CAV1 BSCL2 BANF1 TBC1D4 CIDEC SPRTN AGPAT2
More info about this panelCAV1-related pulmonary arterial hypertension (PAH) test Panel
By John Welsh Cardiovascular Diagnostic Laboratory Baylor College of Medicine
This panel specifically test the CAV1 gene.
More info about this panelCongenital generalised lipodystrophy type 3 Panel
By Exeter Molecular Genetics Laboratory
This panel specifically test the CAV1 gene.
More info about this panelLipodystrophy and Heritable Pulmonary Arterial Hypertension via CAV1 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the CAV1 gene.
More info about this panelCongenital Generalized Lipodystrophy (CGL) Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Congenital Generalized Lipodystrophy (CGL) Sequencing Panel with CNV Detection that also includes the following genes: CAV1 BSCL2 AGPAT2 CAVIN1
More info about this panelPulmonary hypertension NGS panel Panel
By Connective Tissue Gene Tests Pulmonary hypertension NGS panel that also includes the following genes: BMPR1B BMPR2 CAV1 ACVRL1 EIF2AK4 ENG FOXF1 KCNK3 SMAD9
More info about this panelVascular malformations Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Vascular malformations Deletion / Duplication panel that also includes the following genes: BMPR2 TEK GLMN CAV1 KRIT1 ELMO2 ACVRL1 EIF2AK4 CCM2 ENG
More info about this panelPulmonary hypertension Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Pulmonary hypertension Deletion / Duplication panel that also includes the following genes: BMPR1B BMPR2 CAV1 ACVRL1 EIF2AK4 ENG FOXF1 KCNK3 SMAD9
More info about this panelPulmonary hypertension Comprehensive panel Panel
By Connective Tissue Gene Tests Pulmonary hypertension Comprehensive panel that also includes the following genes: BMPR1B BMPR2 CAV1 ACVRL1 EIF2AK4 ENG FOXF1 KCNK3 SMAD9
More info about this panelVascular malformations NGS panel Panel
By Connective Tissue Gene Tests Vascular malformations NGS panel that also includes the following genes: BMPR2 TEK GLMN CAV1 KRIT1 ELMO2 ACVRL1 EIF2AK4 CCM2 ENG
More info about this panelVascular malformations Comprehensive panel Panel
By Connective Tissue Gene Tests Vascular malformations Comprehensive panel that also includes the following genes: BMPR2 TEK GLMN CAV1 KRIT1 ELMO2 ACVRL1 EIF2AK4 CCM2 ENG
More info about this panelPulmonary diseases - panels Panel
By MGZ Medical Genetics Center Pulmonary diseases - panels that also includes the following genes: BMPR1B BMPR2 TBX4 CAV1 CAV3 NME8 ACVRL1 SARS2 CCNO DNAI2
More info about this panelVascular and connective tissue diseases - panels Panel
By MGZ Medical Genetics Center Vascular and connective tissue diseases - panels that also includes the following genes: AIMP1 BMPR1B BMPR2 SKI TGFB2 TGFB3 TGFBR1 TGFBR2 TNXB TREX1
More info about this panelPulmonary Arterial Hypertension Panel
By Asper Biogene Asper Biogene LLC Pulmonary Arterial Hypertension that also includes the following genes: BMPR1B BMPR2 CAV1 ACVRL1 ENG KCNK3 SMAD9
More info about this panelInherited Cardiovascular Diseases and Sudden Death Panel Panel
By Health in Code Inherited Cardiovascular Diseases and Sudden Death Panel that also includes the following genes: MRPL3 RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A BMPR1B BMPR2 SGCA
More info about this panelPulmonary Hypertension Panel Panel
By Health in Code Pulmonary Hypertension Panel that also includes the following genes: BMPR1B BMPR2 CAV1 ACVRL1 ENG GDF2 KCNA5 KCNK3 SMAD1 SMAD4
More info about this panelMixed hyperlipidemias Panel
By Health in Code Mixed hyperlipidemias that also includes the following genes: ZMPSTE24 CAV1 BSCL2 INSIG2 CIDEC AGPAT2 AKT2 INSR LEP LMNA
More info about this panelCardiovascular Diseases_General Panel Panel
By Health in Code Cardiovascular Diseases_General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR1 RYR2 SAR1B BLK SCN10A SCN1B SCN2B
More info about this panelDyslipidemias / Early atherosclerosis Panel
By Health in Code Dyslipidemias / Early atherosclerosis that also includes the following genes: RYR1 SAR1B BLK SLCO1B1 SLC22A8 SLC2A2 HNF1A HNF1B KLF11 WFS1
More info about this panelPulmonary hypertension Panel Panel
By Health in Code Pulmonary hypertension Panel that also includes the following genes: BMPR1B BMPR2 CAV1 TOPBP1 ACVRL1 EIF2AK4 ENG FOXF1 GDF2 KCNA5
More info about this panelInvitae Pulmonary Arterial Hypertension Panel Panel
By Invitae Invitae Pulmonary Arterial Hypertension Panel that also includes the following genes: BMPR2 CAV1 ACVRL1 ENG
More info about this panelHeritable pulmonary arterial hypertension Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Heritable pulmonary arterial hypertension that also includes the following genes: BMPR1B BMPR2 CAV1 ACVRL1 KCNK3 SMAD9
More info about this panelPulmonary Arterial Hypertension: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pulmonary Arterial Hypertension: Sequencing Panel that also includes the following genes: BMPR2 CAV1 ACVRL1 ENG GDF2 SMAD4 SMAD9 RASA1
More info about this panelComprehensive Cardiovascular: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Comprehensive Cardiovascular: Sequencing Panel that also includes the following genes: RIT1 RYR2 SCN1B SCN4B SCN5A BMPR2 SGCD SKI SLC22A5 BRAF
More info about this panelComprehensive Cardiovascular: Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Comprehensive Cardiovascular: Deletion/Duplication Panel that also includes the following genes: RIT1 RYR2 SCN1B SCN4B SCN5A BMPR2 SGCD SKI BRAF SNTA1
More info about this panelLipodystrophy NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Lipodystrophy NGS Panel that also includes the following genes: ZMPSTE24 CAV1 BSCL2 TBC1D4 CIDEC AGPAT2 AKT2 LMNA PPARG CAVIN1
More info about this panelRett-Angelman Syndrome NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Rett-Angelman Syndrome NGS Panel that also includes the following genes: SLC2A1 SLC9A6 CDKL5 TCF4 UBE3A CNTNAP2 PCDH19 ZEB2 CAV1 ARX
More info about this panelPulmonary Hypertension NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Pulmonary Hypertension NGS Panel that also includes the following genes: BMPR2 CAV1 ACVRL1 ENG SMAD9
More info about this panelCAV1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CAV1 gene.
More info about this panelHereditary hemorrhagic telangiectasia (HHT) Panel
By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center Hereditary hemorrhagic telangiectasia (HHT) that also includes the following genes: BMPR2 CAV1 KRIT1 ACVRL1 CCM2 ENG GDF2 SMAD4 RASA1
More info about this panelPulmonary Artery Hypertension (PAH) Panel Panel
By Blueprint Genetics Pulmonary Artery Hypertension (PAH) Panel that also includes the following genes: BMPR2 TBX4 CAV1 NFU1 ACVRL1 EIF2AK4 ENG FOXF1 KCNA5 KCNK3
More info about this panelComprehensive Metabolism Panel Panel
By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3
More info about this panelCongenital and Familial Lipodystrophy Panel Panel
By Blueprint Genetics Congenital and Familial Lipodystrophy Panel that also includes the following genes: ZMPSTE24 CAV1 BSCL2 TBC1D4 AGPAT2 AKT2 LIPE LMNA PLIN1 PPARG
More info about this panelLIPODYSTROPHY, FAMILIAL PARTIAL AND CONGENITAL NGS PANEL Panel
By Laboratorio de Genetica Clinica SL LIPODYSTROPHY, FAMILIAL PARTIAL AND CONGENITAL NGS PANEL that also includes the following genes: ZMPSTE24 CAV1 BSCL2 TBC1D4 MLIP CIDEC AGPAT2 FOS AKT2 LIPE
More info about this panelPULMONARY HYPERTENSION, NGS PANEL Panel
By Laboratorio de Genetica Clinica SL PULMONARY HYPERTENSION, NGS PANEL that also includes the following genes: BMPR1B BMPR2 TBX4 CAV1 ACVRL1 EIF2AK4 ENG FOXF1 GDF2 KCNA5
More info about this panelHeritable Pulmonary Arterial Hypertension Type 3, Sequencing CAV1 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the CAV1 gene.
More info about this panelHeritable Pulmonary Arterial Hypertension, Panel Massive Sequencing (NGS) 5 Genes Panel
By Reference Laboratory Genetics Heritable Pulmonary Arterial Hypertension, Panel Massive Sequencing (NGS) 5 Genes that also includes the following genes: BMPR2 CAV1 ACVRL1 ENG SMAD9
More info about this panelLipodystrophy Related Disorders , Panel Massive Sequencing (NGS) 10 Genes Panel
By Reference Laboratory Genetics Lipodystrophy Related Disorders , Panel Massive Sequencing (NGS) 10 Genes that also includes the following genes: ZMPSTE24 CAV1 BSCL2 CIDEC AGPAT2 LMNA LMNB2 PLIN1 PPARG CAVIN1
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SLC12A2 PLCZ1 MTHFS DISC2 ALB ALG2 SCARB1