FLT4 gene related symptoms and diseases

All the information presented here about the FLT4 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,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 FLT4 gene

Symptoms // Phenotype	% Cases
Neoplasm	Uncommon - Between 30% and 50% cases
Tetralogy of Fallot	Uncommon - Between 30% and 50% cases
Ventricular septal defect	Uncommon - Between 30% and 50% cases
Hemangioma	Uncommon - Between 30% and 50% cases
Arrhythmia	Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with FLT4 gene alterations may also develop some of the following symptoms and phenotypes:

Not very common - Between 30% and 50% cases
Pulmonic stenosis
Rarely - Less than 30% cases
Increased body weight
Right ventricular hypertrophy
Pulmonary valve atresia
Overriding aorta
Endocarditis
Abnormal nasal morphology
Right ventricular failure

And 100 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to FLT4 gene

Here you will find a list of rare diseases related to the FLT4. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

POLYCYSTIC OVARY SYNDROME 1; PCOS1

Alternate names

POLYCYSTIC OVARY SYNDROME 1; PCOS1 Is also known as pco, pco1, hyperandrogenemia, stein-leventhal syndrome, pcos

Description

a health problem that can affect a woman's menstrual cycle, fertility, hormones, insulin production, heart, blood vessels, and appearance

Most common symptoms of POLYCYSTIC OVARY SYNDROME 1; PCOS1

Neoplasm
Abnormality of metabolism/homeostasis
Obesity
Diabetes mellitus
Apnea

More info about POLYCYSTIC OVARY SYNDROME 1; PCOS1

SOURCES: OMIM MESH

TETRALOGY OF FALLOT

Description

Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy.

Most common symptoms of TETRALOGY OF FALLOT

Growth delay
Muscle weakness
Cryptorchidism
Anemia
Brachydactyly

More info about TETRALOGY OF FALLOT

SOURCES: OMIM MESH ORPHANET

MILROY DISEASE

Alternate names

MILROY DISEASE Is also known as hereditary lymphedema type i, nonne-milroy lymphedema, congenital primary lymphedema

Description

Milroy disease is a frequent form of primary lymphedema (see this term) characterized generally by painless, chronic lower-limb lymphedema found at birth or developing in the early neonatal period.

More info about MILROY DISEASE

SOURCES: ORPHANET

LYMPHEDEMA, HEREDITARY, IA; LMPH1A

Alternate names

LYMPHEDEMA, HEREDITARY, IA; LMPH1A Is also known as primary congenital lymphedema, pcl, nonne-milroy lymphedema, lymphedema, early-onset, milroy disease

Description

Hereditary primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts. There may be accompanying nail and skin changes, such as nail dysplasia or papillomatosis. Onset is usually at birth or in early childhood but can occur later, and the severity is variable (summary by Gordon et al., 2013 and Balboa-Beltran et al., 2014). Genetic Heterogeneity of Hereditary Primary LymphedemaPrimary lymphedema is genetically heterogeneous: see also LMPH1B (OMIM ), which maps to chromosome 6q16.2-q22.1; LMPH1C (OMIM ), caused by mutation in the GJC2 gene (OMIM ) on chromosome 1q42; and LMPH1D (OMIM ), caused by mutation in the VEGFC gene (OMIM ) on chromosome 4q34. Hereditary lymphedema III (LMPH3 ) is caused by mutaiton in the PIEZO1 gene (OMIM ) on chromosome 16q24.Also see hereditary lymphedema type II (OMIM ), also known as Meige lymphedema.Lymphedema can also be a feature of syndromic disorders such as lymphedema-distichiasis syndrome (OMIM ), which is caused by mutation in the FOXC2 gene (OMIM ).

Most common symptoms of LYMPHEDEMA, HEREDITARY, IA; LMPH1A

Scoliosis
Strabismus
Cleft palate
Ptosis
Ventricular septal defect

More info about LYMPHEDEMA, HEREDITARY, IA; LMPH1A

SOURCES: OMIM

HEMANGIOMA, CAPILLARY INFANTILE

Alternate names

HEMANGIOMA, CAPILLARY INFANTILE Is also known as hci, hemangioma, hereditary capillary

Description

Capillary hemangiomas are benign, highly proliferative lesions involving aberrant localized growth of capillary endothelium. They are the most common tumor of infancy, occurring in up to 10% of all births (Mulliken and Young, 1988). Hemangiomas tend to appear shortly after birth and show rapid neonatal growth for up to 12 months characterized by endothelial hypercellularity and increased numbers of mast cells. This phase is followed by slow involution at a rate of about 10% per year and replacement by fibrofatty stroma. Hemangiomas are classified as distinct from vascular malformations (see, e.g., CMC1, {163000}; {108010}; and CCM, {116860}), in that the latter are present from birth, tend to grow with the individual, do not regress, and show normal rates of endothelial cell turnover (Spring and Bentz, 2005; Legiehn and Heran, 2006). Legiehn and Heran (2006) noted that the term 'hemangioma' in adults is considered inaccurate and should be discarded.Most hemangiomas occur sporadically, but some families with autosomal dominant inheritance have been reported (Walter et al., 1999).

Most common symptoms of HEMANGIOMA, CAPILLARY INFANTILE

Neoplasm
Hemangioma
Capillary hemangioma

More info about HEMANGIOMA, CAPILLARY INFANTILE

SOURCES: ORPHANET MESH OMIM

Search interest in FLT4

Potential gene panels for FLT4 gene

NGS Vascular Disorders Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Vascular Disorders Panel that also includes the following genes: SOX18 TEK VEGFC GLMN KRIT1 STAMBP GJC2 ACVRL1 CCM2 CCBE1

FLT4 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to FLT4 gene

Other less frequent symptoms and clinical features

Not very common - Between 30% and 50% cases

Rarely - Less than 30% cases

Rare diseases associated to FLT4 gene

POLYCYSTIC OVARY SYNDROME 1; PCOS1

Alternate names

Description

Most common symptoms of POLYCYSTIC OVARY SYNDROME 1; PCOS1

TETRALOGY OF FALLOT

Description

Most common symptoms of TETRALOGY OF FALLOT

MILROY DISEASE

Alternate names

Description

LYMPHEDEMA, HEREDITARY, IA; LMPH1A

Alternate names

Description

Most common symptoms of LYMPHEDEMA, HEREDITARY, IA; LMPH1A

HEMANGIOMA, CAPILLARY INFANTILE

Alternate names

Description

Most common symptoms of HEMANGIOMA, CAPILLARY INFANTILE

Search interest in FLT4

Potential gene panels for FLT4 gene

NGS Vascular Disorders Panel Panel

FLT4 Panel

Lymphedema NGS Multi-Gene Panel (36 Genes) Panel

FLT4. Complete sequencing Panel

Milroy disease (sequence analysis of 17 to 26 exon of FLT4 gene) Panel

Milroy disease (sequence analysis of FLT4 gene) Panel

Lymphedema Sequencing Panel with CNV Detection Panel

Milroy Disease (Lymphedema Type I) via FLT4 Gene Sequencing with CNV Detection Panel

Lymphedema, hereditary, type 1A Panel

Single gene testing FLT4 Panel

Vascular and lymphatic disorders Panel Panel

Primary lymphedema and Hydrops fetalis Panel

Milroy disease: FLT4 (VEGFR3) gene sequence analysis (exons 17-26) Panel

LYMPHEDEMA Panel

FLT4 Panel

Lymphatic Malformations and Related Disorders Panel Panel

Hereditary lymphedema type I Panel

Solid Tumor Gene Set Panel

Thoracic Tumors Gene Set Panel

FoundationOne® Heme Panel

NeoTYPE® Discovery Profile for Solid Tumors Panel

Caris MI TumorSeek 592-Gene NGS Panel Panel

MILROY SYNDROME Panel

MILROY SYNDROME SANGER PANEL Panel

Providence Personalized Medicine Panel - Solid Tumor Panel

Milroy Disease , Sequencing FLT4 (VEGFR3) Gene Panel

Milroy Disease, Sequencing Exons (17-28) FLT4 Gene Panel

Lymphedema-Lethal Restrictive Dermopathy , Panel Massive Sequencing (NGS) 7 Genes Panel

152 Integrated Advantage NGS Solid Tumor Panel Panel

Tempus xT assay Panel

Tempus xO assay Panel

Milroy Disease: gene sequencing Panel