ECEL1 gene related symptoms and diseases
All the information presented here about the ECEL1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ECEL1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Short stature | Very Common - Between 80% and 100% cases |
| Submucous cleft hard palate | Very Common - Between 80% and 100% cases |
| Elbow flexion contracture | Very Common - Between 80% and 100% cases |
| Congenital hip dislocation | Very Common - Between 80% and 100% cases |
| Adducted thumb | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with ECEL1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Pterygium
- Congenital contracture
- Rocker bottom foot
- Decreased muscle mass
- Distal arthrogryposis
- Lumbar hyperlordosis
- Hypoplastic labia majora
- Furrowed tongue
And 26 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ECEL1 gene
Here you will find a list of rare diseases related to the ECEL1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
DISTAL ARTHROGRYPOSIS TYPE 5D
Alternate names
DISTAL ARTHROGRYPOSIS TYPE 5D Is also known as distal arthrogryposis type 5 without ophthalmoparesis, da5d, distal arthrogryposis type 5 without ophthalmoplegia
Description
Distal arthrogryposis type 5D is a rare subtype of distal arthrogryposis syndrome characterized by arthrogryposis multiplex congenita affecting the hands, feet, ankle, shoulders and/or neck, with camptodactyly of the fingers and limited knee and hip extension, associated with asymmetric ptosis and, less frequently, other ocular manifestations (e.g. ophthalmoplegia, strabismus). Affected individuals frequently have a bulbous nose, furrowed tongue, micro/retrognathia, a short neck, congenital hip dislocation, club feet, scoliosis and short stature.
Most common symptoms of DISTAL ARTHROGRYPOSIS TYPE 5D
- Short stature
- Scoliosis
- Micrognathia
- Cleft palate
- Ptosis
More info about DISTAL ARTHROGRYPOSIS TYPE 5D
Search interest in ECEL1
Potential gene panels for ECEL1 gene
Congenital Contractures Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Congenital Contractures Panel that also includes the following genes: SKI SLC18A3 TNNI2 TNNT3 TPM2 TPM3 UBA1 ZMPSTE24 ACTA1 ADGRG6
More info about this panel United States.
Distal Arthrogryposis Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Distal Arthrogryposis Deletion/Duplication Panel that also includes the following genes: TNNI2 TNNT3 TPM2 NALCN CHST14 PIEZO2 ECEL1 FBN2 MYBPC1 MYH3
More info about this panel United States.
Distal Arthrogryposis Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Distal Arthrogryposis Sequencing Panel that also includes the following genes: TNNI2 TNNT3 TPM2 NALCN CHST14 PIEZO2 ECEL1 FBN2 MYBPC1 MYH3
More info about this panel United States.
Distal arthrogryposis type 5D (sequence analysis of ECEL1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the ECEL1 gene.
More info about this panel Portugal.
Distal Arthrogryposis Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Distal Arthrogryposis Sequencing Panel with CNV Detection that also includes the following genes: TNNI2 TNNT3 TPM2 NALCN CHST14 PIEZO2 ECEL1 FBN2 MYBPC1 MYH3
More info about this panel United States.
Distal Arthrogryposis, Autosomal Recessive, Type 5D (DA5D) via ECEL1 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the ECEL1 gene.
More info about this panel United States.
Comprehensive Neuromuscular Sequencing Panel Panel
United States.
By PreventionGenetics PreventionGenetics Comprehensive Neuromuscular Sequencing Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCG SNAP25 SQSTM1 STIM1
More info about this panel United States.
Congenital Fibrosis of Extraocular Muscles (Ocular Motility Disorder) or Strabismus Syndromes Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Congenital Fibrosis of Extraocular Muscles (Ocular Motility Disorder) or Strabismus Syndromes Sequencing Panel with CNV Detection that also includes the following genes: ROBO3 SALL4 KIF21A CHN1 TUBB3 TUBB2B ECEL1 HOXA1 HOXB1 PHOX2A
More info about this panel United States.
Congenital contracture syndrome extended NGS panel Panel
United States.
By Connective Tissue Gene Tests Congenital contracture syndrome extended NGS panel that also includes the following genes: TNNI2 TNNT3 TPM2 VPS33B ZMPSTE24 ADGRG6 NEK9 LGI4 NALCN CHRNA1
More info about this panel United States.
Congenital contracture syndrome extended Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Congenital contracture syndrome extended Comprehensive panel that also includes the following genes: TNNI2 TNNT3 TPM2 VPS33B ZMPSTE24 ADGRG6 NEK9 LGI4 NALCN CHRNA1
More info about this panel United States.
Congenital contracture syndrome extended Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Congenital contracture syndrome extended Deletion / Duplication panel that also includes the following genes: TNNI2 TNNT3 TPM2 VPS33B ZMPSTE24 ADGRG6 NEK9 LGI4 NALCN CHRNA1
More info about this panel United States.
Distal arthrogryposes NGS panel Panel
United States.
By Connective Tissue Gene Tests Distal arthrogryposes NGS panel that also includes the following genes: TNNI2 TNNT3 TPM2 NALCN PIEZO2 ECEL1 FBN2 MYBPC1 MYH3 MYH8
More info about this panel United States.
Distal arthrogryposes Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Distal arthrogryposes Comprehensive panel that also includes the following genes: TNNI2 TNNT3 TPM2 NALCN PIEZO2 ECEL1 FBN2 MYBPC1 MYH3 MYH8
More info about this panel United States.
Distal arthrogryposes Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Distal arthrogryposes Deletion / Duplication panel that also includes the following genes: TNNI2 TNNT3 TPM2 NALCN PIEZO2 ECEL1 FBN2 MYBPC1 MYH3 MYH8
More info about this panel United States.
Arthrogryposis, distal, type 5D Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the ECEL1 gene.
More info about this panel Germany.
Congenital Myasthenic Syndromes and Arthrogryposis Panel Panel
Germany.
By CeGaT GmbH Congenital Myasthenic Syndromes and Arthrogryposis Panel that also includes the following genes: SCN4A SNAP25 SYT2 TNNI2 TNNT3 TPM2 ADGRG6 SYNE1 FKBP10 NALCN
More info about this panel Germany.
ECEL1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ECEL1 gene.
More info about this panel United States.
Arthrogryposes Panel Panel
Finland.
By Blueprint Genetics Arthrogryposes Panel that also includes the following genes: BIN1 SCO2 TGFB3 TK2 TNNI2 TNNT1 TNNT3 TPM2 TPM3 VPS33B
More info about this panel Finland.
ARTHROGRYPOSIS DISTAL, TYPE 5D Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the ECEL1 gene.
More info about this panel Spain.
ARTHROGRYPOSIS NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL ARTHROGRYPOSIS NGS PANEL that also includes the following genes: TNNI2 TNNT3 TPM2 UBA1 VPS33B SYNE1 FKBP10 NALCN VIPAS39 ZC4H2
More info about this panel Spain.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like HUWE1 ADA2 TBX15 ANLN NBAS TNNT3 PI4KA