GDF3 gene related symptoms and diseases
All the information presented here about the GDF3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to GDF3 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Microphthalmia | Common - Between 50% and 80% cases |
| Coloboma | Common - Between 50% and 80% cases |
| Scoliosis | Uncommon - Between 30% and 50% cases |
| Iris coloboma | Uncommon - Between 30% and 50% cases |
| Decreased cervical spine mobility | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with GDF3 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Cervical C2/C3 vertebral fusion
- Short neck
- Low posterior hairline
- Anophthalmia
Rarely - Less than 30% cases
- Scleral staphyloma
- Hypermetropia
- Abnormal cranial nerve morphology
- Ectopic anus
And 55 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to GDF3 gene
Here you will find a list of rare diseases related to the GDF3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
MICROPHTHALMIA, ISOLATED 1; MCOP1
Alternate names
MICROPHTHALMIA, ISOLATED 1; MCOP1 Is also known as anophthalmia, clinical, isolated, microphthalmos, autosomal recessive, mcop
Description
Microphthalmia designates a heterogeneous group of ocular malformations with a more or less evident reduction in the size of the eyeball. Additional features include high hypermetropia and a short axial length. The size of the anterior chamber and the cornea may also be reduced, whereas the lens is normal or thicker than usual for age (summary by Fuchs et al., 2005).
Most common symptoms of MICROPHTHALMIA, ISOLATED 1; MCOP1
- Microphthalmia
- Glaucoma
- Coloboma
- Hypermetropia
- Anophthalmia
More info about MICROPHTHALMIA, ISOLATED 1; MCOP1
ISOLATED KLIPPEL-FEIL SYNDROME
Alternate names
ISOLATED KLIPPEL-FEIL SYNDROME Is also known as congenital cervical vertebral fusion, klippel-feil sequence, congenital fused cervical segments, klippel-feil malformation, cervical vertebral fusion, autosomal recessive, kfs, autosomal recessive
Description
Klippel-Feil Syndrome is characterised by improper segmentation of cervical segments resulting in congenitally fused cervical vertebrae.
Most common symptoms of ISOLATED KLIPPEL-FEIL SYNDROME
- Hearing impairment
- Scoliosis
- Hypertelorism
- Sensorineural hearing impairment
- Cleft palate
More info about ISOLATED KLIPPEL-FEIL SYNDROME
KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT; KFS3
Description
Klippel-Feil syndrome is a congenital anomaly characterized by a defect in the formation or segmentation of the cervical vertebrae, resulting in a fused appearance. The clinical triad consists of short neck, low posterior hairline, and limited neck movement, although less than 50% of patients demonstrate all 3 clinical features (Tracy et al., 2004).For a general description and a discussion of genetic heterogeneity of Klippel-Feil syndrome, see KFS1 (OMIM ).
Most common symptoms of KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT; KFS3
- Scoliosis
- Short neck
- Coloboma
- Iris coloboma
- Low posterior hairline
More info about KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT; KFS3
SOURCES: OMIM
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6
Most common symptoms of MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6
- Nystagmus
- Visual impairment
- Microphthalmia
- Coloboma
- Iris coloboma
More info about MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6
SOURCES: OMIM
COLOBOMATOUS MICROPHTHALMIA
Alternate names
COLOBOMATOUS MICROPHTHALMIA Is also known as mac, microphthalmia, colobomatous, isolated 1, microphthalmia-anophthalmia-coloboma syndrome, microphthalmia with colobomatous cyst
Description
Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma.
Most common symptoms of COLOBOMATOUS MICROPHTHALMIA
- Microphthalmia
- Coloboma
- Microcornea
- Anophthalmia
- Increased intraocular pressure
More info about COLOBOMATOUS MICROPHTHALMIA
MICROPHTHALMIA, ISOLATED 7; MCOP7
Most common symptoms of MICROPHTHALMIA, ISOLATED 7; MCOP7
- Microphthalmia
More info about MICROPHTHALMIA, ISOLATED 7; MCOP7
SOURCES: OMIM
Search interest in GDF3
Potential gene panels for GDF3 gene
Anophthalmia/microphthalmia Panel
Denmark.
By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet Anophthalmia/microphthalmia that also includes the following genes: BMP4 SIX6 SOX2 TFAP2A VAX1 ALX1 PORCN MFRP RAX VSX2
More info about this panel Denmark.
GDF3. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the GDF3 gene.
More info about this panel Spain.
Klippel-Feil syndrome type 3, AD (sequence analysis of GDF3 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the GDF3 gene.
More info about this panel Portugal.
Microphthalmia (NGS panel for 26 genes) Panel
Portugal.
By CGC Genetics Microphthalmia (NGS panel for 26 genes) that also includes the following genes: BMP4 SHH SIX6 SOX2 VAX1 MFRP RAX NAA10 VSX2 SMOC1
More info about this panel Portugal.
Klippel-Feil syndrome (NGS panel for 5 genes) Panel
Portugal.
By CGC Genetics Klippel-Feil syndrome (NGS panel for 5 genes) that also includes the following genes: MYO18B RIPPLY2 GDF3 GDF6 MEOX1
More info about this panel Portugal.
Klippel-Feil syndrome (NGS panel for 5 genes) Panel
Portugal.
By CGC Genetics Klippel-Feil syndrome (NGS panel for 5 genes) that also includes the following genes: MYO18B RIPPLY2 GDF3 GDF6 MEOX1
More info about this panel Portugal.
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel
United States.
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 panel United States.
Klippel-Feil syndrome Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Klippel-Feil syndrome Comprehensive panel that also includes the following genes: MYO18B RIPPLY2 GDF3 GDF6 MEOX1
More info about this panel United States.
Klippel-Feil syndrome NGS panel Panel
United States.
By Connective Tissue Gene Tests Klippel-Feil syndrome NGS panel that also includes the following genes: MYO18B RIPPLY2 GDF3 GDF6 MEOX1
More info about this panel United States.
Klippel-Feil syndrome Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Klippel-Feil syndrome Deletion / Duplication panel that also includes the following genes: MYO18B RIPPLY2 GDF3 GDF6 MEOX1
More info about this panel United States.
Eye Diseases - panels Panel
Germany.
By MGZ Medical Genetics Center Eye Diseases - panels that also includes the following genes: BFSP1 BFSP2 SALL2 BMP4 BMP7 SHH SIX3 SIX6 FOXL2 SOX2
More info about this panel Germany.
Microphthalmia-Anophthalmia-Coloboma Complex (MAC) Panel
Germany.
By MGZ Medical Genetics Center Microphthalmia-Anophthalmia-Coloboma Complex (MAC) that also includes the following genes: SALL2 BMP4 SHH SIX3 SIX6 FOXL2 SOX2 TFAP2A TGIF1 VAX1
More info about this panel Germany.
Klippel-Feil syndrome type 3, autosomal dominant Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the GDF3 gene.
More info about this panel Germany.
Microphthalmia, isolated type 7 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the GDF3 gene.
More info about this panel Germany.
Microphthalmia, isolated with coloboma type 6, digenic Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the GDF3 gene.
More info about this panel Germany.
Klippel-feil syndrome panel Panel
Germany.
By Centogene AG - the Rare Disease Company Klippel-feil syndrome panel that also includes the following genes: MYO18B GDF3 GDF6 MEOX1
More info about this panel Germany.
Microphthalmy Panel Panel
Germany.
By CeGaT GmbH Microphthalmy Panel that also includes the following genes: BMP4 SHH SIX6 SOX2 VAX1 MFRP RAX NAA10 VSX2 SMOC1
More info about this panel Germany.
Selected Genetic Syndromes with skeletal involvement Panel Panel
Germany.
By CeGaT GmbH Selected Genetic Syndromes with skeletal involvement Panel that also includes the following genes: SALL1 SF3B4 TBCE TBX15 TBX3 TBX5 NIN SALL4 PCNT ORC6
More info about this panel Germany.
Klippel-Feil Syndrome Panel
Poland.
By Laboratory of Human Genetics GENOMED Health Care Center Klippel-Feil Syndrome that also includes the following genes: GDF3 GDF6 MEOX1 PAX1
More info about this panel Poland.
Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis Panel
Estonia.
By Asper Biogene Asper Biogene LLC Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis that also includes the following genes: BMP4 SIX6 SOX2 VAX1 VSX1 MFRP RAX VSX2 B3GLCT SMOC1
More info about this panel Estonia.
Eye diseases comprehensive panel Panel
Estonia.
By Asper Biogene Asper Biogene LLC Eye diseases comprehensive panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panel Estonia.
Developmental Eye Disease panel Panel
United States.
By Molecular Vision Laboratory Developmental Eye Disease panel that also includes the following genes: BMP4 SHH SIX3 SIX6 SLC25A1 SNX3 SOX2 SOX3 ELP4 VAX1
More info about this panel United States.
qGenEx Craniofacial Anomalies Panel
Spain.
By Quantitative Genomic Medicine Laboratories, SL qGenEx Craniofacial Anomalies that also includes the following genes: RUNX2 SALL1 TSHZ1 BMP4 SEMA3E SF3B4 SH3BP2 SHH SIX1 SIX3
More info about this panel Spain.
Klippel-Feil syndrome type 3: GDF3 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the GDF3 gene.
More info about this panel Spain.
GDF3 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the GDF3 gene.
More info about this panel United States.
Isolated Klippel-Feil syndrome type 1 Panel
Spain.
By Bioarray
This panel specifically test the GDF3 gene.
More info about this panel Spain.
ANOPHTHALMIA/ MICROPHTALMIA: NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL ANOPHTHALMIA/ MICROPHTALMIA: NGS PANEL that also includes the following genes: SALL1 SALL2 BMP4 SHH SIX6 SOX2 PXDN MFRP RAX NAA10
More info about this panel Spain.
KLIPPEL-FEIL SYNDROME Panel
Spain.
By Laboratorio de Genetica Clinica SL KLIPPEL-FEIL SYNDROME that also includes the following genes: GDF3 GDF6 MEOX1 PAX1
More info about this panel Spain.
KLIPPEL-FEIL SYNDROME NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL KLIPPEL-FEIL SYNDROME NGS PANEL that also includes the following genes: MYO18B RIPPLY2 GDF3 GDF6 MEOX1 PAX1
More info about this panel Spain.
Klippel-Feil Syndrome Type 3 , Sequencing GDF3 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the GDF3 gene.
More info about this panel Spain.
Klippel-Feil Syndrome , Panel Massive Sequencing (NGS) GDF3, GDF6, MEOX1 Genes Panel
Spain.
By Reference Laboratory Genetics Klippel-Feil Syndrome , Panel Massive Sequencing (NGS) GDF3, GDF6, MEOX1 Genes that also includes the following genes: GDF3 GDF6 MEOX1
More info about this panel Spain.
Microphthalmia , Panel Massive Sequencing (NGS) 14 Genes Panel
Spain.
By Reference Laboratory Genetics Microphthalmia , Panel Massive Sequencing (NGS) 14 Genes that also includes the following genes: BMP4 SIX6 SOX2 VAX1 RAX VSX2 BCOR STRA6 GDF3 GDF6
More info about this panel Spain.
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