ZIC1 gene related symptoms and diseases
All the information presented here about the ZIC1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ZIC1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Uncommon - Between 30% and 50% cases |
| Hypertelorism | Uncommon - Between 30% and 50% cases |
| Hearing impairment | Uncommon - Between 30% and 50% cases |
| Strabismus | Uncommon - Between 30% and 50% cases |
| Global developmental delay | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with ZIC1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Midface retrusion
- Brachycephaly
- Plagiocephaly
- Increased intracranial pressure
Rarely - Less than 30% cases
- Turricephaly
- Anterior plagiocephaly
- Brachydactyly
- Proptosis
And 32 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ZIC1 gene
Here you will find a list of rare diseases related to the ZIC1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ISOLATED PLAGIOCEPHALY
Alternate names
ISOLATED PLAGIOCEPHALY Is also known as non-syndromic unicoronal synostosis, synostotic plagiocephaly
Description
Isolated synostotic plagiocephaly (SP) is a form of nonsyndromic craniosynostosis characterized by premature fusion of one coronal suture leading to skull deformity and facial asymmetry.
Most common symptoms of ISOLATED PLAGIOCEPHALY
- Intellectual disability
- Global developmental delay
- Hearing impairment
- Strabismus
- Macrocephaly
More info about ISOLATED PLAGIOCEPHALY
SOURCES: ORPHANET
CRANIOSYNOSTOSIS 6; CRS6
Description
Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by Fitzpatrick, 2013). Craniosynostosis-6 is a bicoronal form associated with bony defects in the sagittal, metopic, or lambdoid sutures (Twigg et al., 2015).For a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (OMIM ).
Most common symptoms of CRANIOSYNOSTOSIS 6; CRS6
- Intellectual disability
- Global developmental delay
- Generalized hypotonia
- Microcephaly
- Scoliosis
More info about CRANIOSYNOSTOSIS 6; CRS6
SOURCES: OMIM
ISOLATED DANDY-WALKER MALFORMATION WITH HYDROCEPHALUS
ISOLATED DANDY-WALKER MALFORMATION WITHOUT HYDROCEPHALUS
ISOLATED BRACHYCEPHALY
Alternate names
ISOLATED BRACHYCEPHALY Is also known as non-syndromic bicoronal synostosis
Description
Isolated brachycephaly is a relatively frequent nonsyndromic craniosynostosis consisting of premature fusion of both coronal sutures leading to skull deformity with a broad flat forehead and palpable coronal ridges.
Most common symptoms of ISOLATED BRACHYCEPHALY
- Intellectual disability
- Hearing impairment
- Hypertelorism
- Brachydactyly
- Midface retrusion
More info about ISOLATED BRACHYCEPHALY
SOURCES: ORPHANET
ISOLATED OXYCEPHALY
Alternate names
ISOLATED OXYCEPHALY Is also known as acrocephaly, pyrgocephaly, hypsocephaly, turricephaly, hypsicephaly
Description
Isolated oxycephaly is a late-appearing form of nonsyndromic craniosynostosis characterized by premature fusion of both the coronal and sagittal sutures, and, in some cases, of the lambdoid sutures. Compensatory growth in the region of the anterior fontanel results in a pointed or cone-shaped skull.
Most common symptoms of ISOLATED OXYCEPHALY
- Intellectual disability, severe
- Intellectual disability, moderate
- Arnold-Chiari malformation
- Increased intracranial pressure
- Papilledema
More info about ISOLATED OXYCEPHALY
SOURCES: ORPHANET
Search interest in ZIC1
Potential gene panels for ZIC1 gene
Craniofacial Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Craniofacial Sequencing Panel that also includes the following genes: RUNX2 SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 ALX1
More info about this panel United States.
Craniofacial Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Craniofacial Deletion/Duplication Panel that also includes the following genes: RUNX2 SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 ALX1
More info about this panel United States.
Ataxia Exome Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2
More info about this panel United States.
Craniosynostosis Panel
United States.
By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Craniosynostosis that also includes the following genes: RUNX2 SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 CDC45
More info about this panel United States.
Craniosynostosis Sequence Analysis Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniosynostosis Sequence Analysis that also includes the following genes: RUNX2 SKI TCF12 TWIST1 ZIC1 IFT122 RAB23 CD96 SPECC1L WDR35
More info about this panel United States.
Craniofacial Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniofacial Del/Dup Panel that also includes the following genes: RUNX2 SALL1 SF3B4 SIX1 SIX5 SKI SNRPB TCF12 TCOF1 TWIST1
More info about this panel United States.
Craniosynostosis Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniosynostosis Del/Dup Panel that also includes the following genes: RUNX2 SKI TCF12 TWIST1 ZIC1 IFT122 RAB23 CD96 SPECC1L WDR35
More info about this panel United States.
Craniosynostosis Seq + Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniosynostosis Seq + Del/Dup Panel that also includes the following genes: RUNX2 SKI TCF12 TWIST1 ZIC1 IFT122 RAB23 CD96 SPECC1L WDR35
More info about this panel United States.
Craniofacial Seq + Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniofacial Seq + Del/Dup Panel that also includes the following genes: RUNX2 SALL1 SF3B4 SIX1 SIX5 SKI SNRPB TCF12 TCOF1 TWIST1
More info about this panel United States.
Craniofacial Seq Analysis Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniofacial Seq Analysis that also includes the following genes: RUNX2 SALL1 SF3B4 SIX1 SIX5 SKI SNRPB TCF12 TCOF1 TWIST1
More info about this panel United States.
Craniosynostosis Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Craniosynostosis Deletion / Duplication panel that also includes the following genes: SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 CDC45 WDR19
More info about this panel United States.
Craniosynostosis Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Craniosynostosis Comprehensive panel that also includes the following genes: SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 CDC45 WDR19
More info about this panel United States.
Craniosynostosis NGS panel Panel
United States.
By Connective Tissue Gene Tests Craniosynostosis NGS panel that also includes the following genes: SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 CDC45 WDR19
More info about this panel United States.
Single gene testing ZIC1 Panel
Germany.
By CeGaT GmbH
This panel specifically test the ZIC1 gene.
More info about this panel Germany.
ZIC1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ZIC1 gene.
More info about this panel United States.
Craniosynostosis Panel Panel
Finland.
By Blueprint Genetics Craniosynostosis Panel that also includes the following genes: BMP4 SKI SOX10 TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23
More info about this panel Finland.
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