RNU4ATAC gene related symptoms and diseases

All the information presented here about the RNU4ATAC gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to RNU4ATAC gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Microcephaly Very Common - Between 80% and 100% cases
Brachydactyly Very Common - Between 80% and 100% cases
Hip dislocation Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with RNU4ATAC gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Intellectual disability, mild
  • Elbow dislocation
  • Postnatal growth retardation
  • Agenesis of corpus callosum
  • Single transverse palmar crease
  • Anteverted nares
  • Ventricular septal defect
  • Downslanted palpebral fissures

And 225 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to RNU4ATAC gene

Here you will find a list of rare diseases related to the RNU4ATAC. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPES I AND III


Alternate names

MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPES I AND III Is also known as microcephalic osteodysplastic primordial dwarfism, taybi-linder type, low-birth-weight dwarfism with skeletal dysplasia, mopd i, mopd types i and iii, osteodysplastic primordial dwarfism, type i, primordial microcephalic dwarfism, crachami type, mopd, cephaloske

Description

Microcephalic osteodysplastic primordial dwarfism (MOPD) types 1 and 3 are characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. Although MOPD types 1 and 3 were originally described as two separate entities on the basis of radiological criteria (notably small differences in pelvic and long bone structure), later reports confirmed that the two forms represent different modes of expression of the same syndrome.

Most common symptoms of MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPES I AND III

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


More info about MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPES I AND III

SOURCES: OMIM ORPHANET

LOWRY-WOOD SYNDROME


Alternate names

LOWRY-WOOD SYNDROME Is also known as lowry-wood syndrome, lws, epiphyseal dysplasia-microcephaly-nystagmus syndrome

Description

Lowry-Wood syndrome is characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa (see this term) and coxa vara. Transmission appears to be autosomal recessive.

Most common symptoms of LOWRY-WOOD SYNDROME

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Nystagmus
  • Visual impairment


More info about LOWRY-WOOD SYNDROME

SOURCES: OMIM MESH ORPHANET

ROIFMAN SYNDROME


Alternate names

ROIFMAN SYNDROME Is also known as spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome, spondyloepiphyseal dysplasia, retinal dystrophy, and antibody deficiency

Description

Roifman syndrome is a rare, genetic immuno-osseous dysplasia disorder characterized by pre- and post-natal growth retardation, hypotonia, borderline to moderate intellectual disability, retinal dystrophy, spondyloepiphyseal dysplasia (epiphyseal dysplasia, epiphyses ossification delay, vertebral changes) and skeletal anomalies (brachydactyly, fifth finger clinodactyly), as well as humeral immunodeficiency characterized by inability to generate specific antibodies and low circulating B-cells. Craniofacial dysmorphism, that typically inlcudes microcephaly, hypertelorism, long palpebral fissures, prominent eyelashes, a narrow, tubular, upturned nose with hypoplastic alae nasi, long philtrum and thin upper lip, are also associated.

Most common symptoms of ROIFMAN SYNDROME

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


More info about ROIFMAN SYNDROME

SOURCES: ORPHANET OMIM


Potential gene panels for RNU4ATAC gene

Comprehensive Primordial Dwarfism Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Comprehensive Primordial Dwarfism Panel that also includes the following genes: PLK4 XRCC4 CRIPT PCNT ORC6 CENPJ CDC6 GMNN RTTN CDK5RAP2

More info about this panel

Microcephalic Osteodysplastic Primordial Dwarfism, Type I Panel

United States.

By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children

This panel specifically test the RNU4ATAC gene.

More info about this panel

RNU4ATAC. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the RNU4ATAC gene.

More info about this panel

Microcephalic osteodysplastic primordial dwarfism type I (sequence analysis of RNU4ATAC gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the RNU4ATAC gene.

More info about this panel

Microcephalic primordial dwarfism Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Microcephalic primordial dwarfism Comprehensive panel that also includes the following genes: XRCC4 NIN PCNT ORC6 CENPJ CDC45 CDC6 GMNN CDT1 CEP63

More info about this panel

Microcephalic primordial dwarfism Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Microcephalic primordial dwarfism Deletion / Duplication panel that also includes the following genes: XRCC4 NIN PCNT ORC6 CENPJ CDC45 CDC6 GMNN CDT1 CEP63

More info about this panel

Microcephalic primordial dwarfism NGS panel Panel

United States.

By Connective Tissue Gene Tests Microcephalic primordial dwarfism NGS panel that also includes the following genes: XRCC4 NIN PCNT ORC6 CENPJ CDC45 CDC6 GMNN CDT1 CEP63

More info about this panel

Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel that also includes the following genes: RMRP BGN RUNX2 SLC26A2 SMARCAL1 ACP5 CFAP410 CCN6 XYLT1 RAB33B

More info about this panel

Spondylo-Epi-Metaphyseal dysplasias Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Spondylo-Epi-Metaphyseal dysplasias Comprehensive panel that also includes the following genes: RMRP BGN RUNX2 SLC26A2 SMARCAL1 ACP5 CFAP410 CCN6 XYLT1 RAB33B

More info about this panel

Spondylo-Epi-Metaphyseal dysplasias NGS panel Panel

United States.

By Connective Tissue Gene Tests Spondylo-Epi-Metaphyseal dysplasias NGS panel that also includes the following genes: RMRP BGN RUNX2 SLC26A2 SMARCAL1 ACP5 CFAP410 CCN6 XYLT1 RAB33B

More info about this panel

Microcephalic osteodysplastic primordial dwarfism Type 1 Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen

This panel specifically test the RNU4ATAC gene.

More info about this panel

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel

Microcephalic osteodysplastic primordial dwarfism type 1 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the RNU4ATAC gene.

More info about this panel

Potentially lethal skeletal disorders Panel Panel

Germany.

By CeGaT GmbH Potentially lethal skeletal disorders Panel that also includes the following genes: SLC26A2 SOX9 TRIP11 WNT7A NSDHL TRPV4 P3H1 CANT1 SLC35D1 COL11A1

More info about this panel

Microcephalic Osteodysplastic Primordial Dwarfism Type 1 Panel

Netherlands.

By Clinical Genomics Maastricht University Medical Centre

This panel specifically test the RNU4ATAC gene.

More info about this panel

Primordial Dwarfism NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Primordial Dwarfism NGS Panel that also includes the following genes: PCNT ORC6 CENPJ CDC6 CDT1 CEP63 CEP152 RNU4ATAC ORC1 ORC4

More info about this panel

RNU4ATAC Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the RNU4ATAC gene.

More info about this panel

Comprehensive Short Stature Syndrome Panel Panel

Finland.

By Blueprint Genetics Comprehensive Short Stature Syndrome Panel that also includes the following genes: RIT1 BCS1L RRAS SHOX BRAF SMC1A SOS1 SOX2 SOX3 STAT5B

More info about this panel

Primary Immunodeficiency Panel Panel

Finland.

By Blueprint Genetics Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC CFB BLM SH2D1A SLC7A7 SMARCAL1 SMARCD2 SRP72 BTK

More info about this panel

3-M Syndrome / Primordial Dwarfism Panel Panel

Finland.

By Blueprint Genetics 3-M Syndrome / Primordial Dwarfism Panel that also includes the following genes: BCS1L XRCC4 PCNT SRCAP ORC6 CENPJ CDC45 CDC6 RTTN CUL7

More info about this panel

Skeletal Dysplasias Core Panel Panel

Finland.

By Blueprint Genetics Skeletal Dysplasias Core Panel that also includes the following genes: RMRP ROR2 RUNX2 BMP1 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TCIRG1

More info about this panel

Comprehensive Skeletal Dysplasias and Disorders Panel Panel

Finland.

By Blueprint Genetics Comprehensive Skeletal Dysplasias and Disorders Panel that also includes the following genes: RMRP ROR2 BGN RUNX2 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 SHOX

More info about this panel

Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel

Finland.

By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D

More info about this panel

Microcephalic osteodysplastic primordial dwarfism type 1 Panel

Spain.

By Bioarray

This panel specifically test the RNU4ATAC gene.

More info about this panel

RNU4ATAC Gene Sequencing and Deletion/Duplication Analysis Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children

This panel specifically test the RNU4ATAC gene.

More info about this panel

Microcephalic Osteodysplastic Primordial Dwarfism NGS and Deletion/Duplication Panel Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Microcephalic Osteodysplastic Primordial Dwarfism NGS and Deletion/Duplication Panel that also includes the following genes: PCNT RNU4ATAC

More info about this panel

Microcephalic Osteodysplastic Primordial Dwarfism (RNU4ATAC) Targeted Testing Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children

This panel specifically test the RNU4ATAC gene.

More info about this panel

MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPES I AND III Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the RNU4ATAC gene.

More info about this panel

Microcephalic Osteodysplastic Primordial Dwarfism Type 1, Sequencing RNU4ATAC Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the RNU4ATAC gene.

More info about this panel

Primordial Dwarfism and Related Disorders , Panel Massive Sequencing (NGS) 12 Genes Panel

Spain.

By Reference Laboratory Genetics Primordial Dwarfism and Related Disorders , Panel Massive Sequencing (NGS) 12 Genes that also includes the following genes: PCNT ORC6 CENPJ CDC6 CDT1 CEP63 CEP152 RNU4ATAC ORC1 ORC4

More info about this panel


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