FBLN1 gene related symptoms and diseases
All the information presented here about the FBLN1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to FBLN1 gene
Symptoms // Phenotype | % Cases |
---|---|
Syndactyly | Uncommon - Between 30% and 50% cases |
Polydactyly | Uncommon - Between 30% and 50% cases |
Toe syndactyly | Uncommon - Between 30% and 50% cases |
Tarsal synostosis | Uncommon - Between 30% and 50% cases |
Carpal synostosis | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with FBLN1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Metacarpal synostosis
- Metatarsal synostosis
Rare diseases associated to FBLN1 gene
Here you will find a list of rare diseases related to the FBLN1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
SYNPOLYDACTYLY TYPE 2
Alternate names
SYNPOLYDACTYLY TYPE 2 Is also known as spd2, spd, debeer type, sd2, debeer type, synpolydactyly, 3/3-prime/4, associated with metacarpal and metatarsal synostoses, sd2b, synpolydactyly, debeer type
Most common symptoms of SYNPOLYDACTYLY TYPE 2
- Syndactyly
- Polydactyly
- Toe syndactyly
- Tarsal synostosis
- Carpal synostosis
More info about SYNPOLYDACTYLY TYPE 2
FBLN1-RELATED DEVELOPMENTAL DELAY-CENTRAL NERVOUS SYSTEM ANOMALY-SYNDACTYLY SYNDROME
Description
FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by delayed motor development, intellectual disability, dysarthria, pseudobulbar signs, cryptorchidism, and syndactyly associated with a FLBN1 gene point mutation. Macular degeneration and signs of brain atrophy and spinal cord compression have also been reported.
More info about FBLN1-RELATED DEVELOPMENTAL DELAY-CENTRAL NERVOUS SYSTEM ANOMALY-SYNDACTYLY SYNDROME
SOURCES: ORPHANET
Search interest in FBLN1
Potential gene panels for FBLN1 gene
Congenital Limb Malformation Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Congenital Limb Malformation Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP2 BMPR1B SF3B4 FBXW4 SHH BRCA2 SOX9 TBX15
More info about this panelSkeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection that also includes the following genes: RMRP ROR2 RUNX2 SALL1 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 FBXW4
More info about this panelIsolated limb hypoplasia and limb reduction defects: Split-hand/foot; Synostosis; isolated Brachydactyly; Polydactyly; Syndactyly Panel Panel
By CeGaT GmbH Isolated limb hypoplasia and limb reduction defects: Split-hand/foot; Synostosis; isolated Brachydactyly; Polydactyly; Syndactyly Panel that also includes the following genes: ROR2 BMP2 BMPR1B WNT10B WNT7A LMBR1 TP63 TRPV4 BHLHA9 FBLN1
More info about this panelLimb Malformation: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Limb Malformation: Sequencing Panel that also includes the following genes: ROR2 SALL1 BMP2 BMPR1B FBXW4 SHH SOX9 TBX15 TBX3 TBX5
More info about this panelSkeletal Dysplasia: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Skeletal Dysplasia: Sequencing Panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SHOX SLC25A12 SLC26A2
More info about this panelSkeletal Dysplasias NGS panel Panel
By Fulgent Genetics Fulgent Genetics Skeletal Dysplasias NGS panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SLC25A12 SLC26A2 SMARCAL1
More info about this panelFBLN1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the FBLN1 gene.
More info about this panelSYNDACTYLY TYPE 2 (SINPOLYDACTYLY) Panel
By Laboratorio de Genetica Clinica SL SYNDACTYLY TYPE 2 (SINPOLYDACTYLY) that also includes the following genes: FBLN1 HOXD13
More info about this panelSynpolydactyly , Panel Massive Sequencing (NGS) FBLN1, HOXD13 Genes Panel
By Reference Laboratory Genetics Synpolydactyly , Panel Massive Sequencing (NGS) FBLN1, HOXD13 Genes that also includes the following genes: FBLN1 HOXD13
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