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.

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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). Genetic Heterogeneity of Isolated MicrophthalmiaMCOP1 has been mapped to chromosome 14q32. MCOP2 (OMIM ) is caused by mutation in the CHX10 gene (OMIM ) on chromosome 14q24. MCOP3 (OMIM ) is caused by mutation in the RAX gene (OMIM ) on chromosome 18q21.3. MCOP4 (OMIM ) is caused by mutation in the GDF6 gene (OMIM ) on chromosome 8q22.1. MCOP5 (OMIM ) is caused by mutation in the MFRP gene (OMIM ) on chromosome 11q23. MCOP6 (OMIM ) is caused by mutation in the PRSS56 gene (OMIM ) on chromosome 2q37.1. MCOP7 (OMIM ) is caused by mutation in the GDF3 gene (OMIM ) on chromosome 12p13.1. MCOP8 (OMIM ) is caused by mutation in the ALDH1A3 gene (OMIM ) on chromosome 15q26.

Most common symptoms of MICROPHTHALMIA, ISOLATED 1; MCOP1

  • Microphthalmia
  • Glaucoma
  • Coloboma
  • Hypermetropia
  • Anophthalmia


More info about MICROPHTHALMIA, ISOLATED 1; MCOP1

SOURCES: MESH OMIM ORPHANET

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

SOURCES: OMIM ORPHANET

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

SOURCES: ORPHANET OMIM

MICROPHTHALMIA, ISOLATED 7; MCOP7


Most common symptoms of MICROPHTHALMIA, ISOLATED 7; MCOP7

  • Microphthalmia


More info about MICROPHTHALMIA, ISOLATED 7; MCOP7

SOURCES: OMIM


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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

GDF3 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the GDF3 gene.

More info about this panel

Isolated Klippel-Feil syndrome type 1 Panel

Spain.

By Bioarray

This panel specifically test the GDF3 gene.

More info about this panel

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

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

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

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

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

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


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