CUL7 gene related symptoms and diseases

All the information presented here about the CUL7 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CUL7 gene

Symptoms // Phenotype % Cases
Pointed chin Very Common - Between 80% and 100% cases
Small for gestational age Very Common - Between 80% and 100% cases
Short ribs Very Common - Between 80% and 100% cases
Clinodactyly of the 5th finger Very Common - Between 80% and 100% cases
Severe short stature Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with CUL7 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Mandibular prognathia
  • Short thorax
  • Pes planus
  • Hyperlordosis
  • Hip dislocation
  • Hypospadias
  • Dolichocephaly
  • Short stature

And 67 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to CUL7 gene

Here you will find a list of rare diseases related to the CUL7. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


3M SYNDROME


Alternate names

3M SYNDROME Is also known as le merrer syndrome, 3-m syndrome, 3m syndrome, gloomy face syndrome, yakut short stature syndrome, dolichospondylic dysplasia

Description

3M syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence.

Most common symptoms of 3M SYNDROME

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


More info about 3M SYNDROME

SOURCES: ORPHANET OMIM

DWARFISM WITH TALL VERTEBRAE


Most common symptoms of DWARFISM WITH TALL VERTEBRAE

  • Short stature
  • Depressed nasal bridge
  • Intrauterine growth retardation
  • Frontal bossing
  • Abnormality of the skeletal system


More info about DWARFISM WITH TALL VERTEBRAE

SOURCES: OMIM


Potential gene panels for CUL7 gene

Hypospadias Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Hypospadias Sequencing Panel that also includes the following genes: SALL1 BMP4 SOX2 SRD5A2 HNF1B MED12 WNT7A WT1 FBXL4 ZEB2

More info about this panel

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

3-M syndrome 1 (sequence analysis of CUL7 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the CUL7 gene.

More info about this panel

3-M Syndrome via CUL7 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the CUL7 gene.

More info about this panel

Hypospadias Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hypospadias Sequencing Panel with CNV Detection that also includes the following genes: SALL1 BMP4 BMP7 SOX2 SRD5A2 HNF1B MED12 WNT7A WT1 FBXL4

More info about this panel

Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A SEMA3E BMP7 FOXL2 BRDT SOS1

More info about this panel

Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A BMP7 FOXL2 SOS1 SOX10 SOX2

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

Three M syndrome NGS panel Panel

United States.

By Connective Tissue Gene Tests Three M syndrome NGS panel that also includes the following genes: CUL7 CCDC8 OBSL1

More info about this panel

Three M syndrome Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Three M syndrome Deletion / Duplication panel that also includes the following genes: CUL7 CCDC8 OBSL1

More info about this panel

Three M syndrome Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Three M syndrome Comprehensive panel that also includes the following genes: CUL7 CCDC8 OBSL1

More info about this panel

Mental Retardation and Dysmorphology - panels Panel

Germany.

By MGZ Medical Genetics Center Mental Retardation and Dysmorphology - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2

More info about this panel

Syndromal Diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Syndromal Diseases - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2

More info about this panel

3M SYNDROME Panel

Germany.

By Bioscientia GmbH Center for Human Genetics

This panel specifically test the CUL7 gene.

More info about this panel

Three M syndrome type 1 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the CUL7 gene.

More info about this panel

Micro syndrome panel Panel

Germany.

By Centogene AG - the Rare Disease Company Micro syndrome panel that also includes the following genes: RAB18 TBC1D20 RAB3GAP1 RAB3GAP2 CUL7 CREBBP ALDH18A1

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

3M syndrome: CUL7 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the CUL7 gene.

More info about this panel

Proportionate Short Stature/Small for Gestational Age: Sequencing and Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Proportionate Short Stature/Small for Gestational Age: Sequencing and Deletion/Duplication Panel that also includes the following genes: ROR2 RPS6KA3 BLM SHOX SHOX2 SMARCAL1 SMC1A SOS1 SOX2 SOX3

More info about this panel

Disproportionate Short Stature: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Disproportionate Short Stature: Sequencing Panel that also includes the following genes: ROR2 RUNX2 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TBCE TBX6 TRIP11

More info about this panel

Skeletal Dysplasia: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Skeletal Dysplasia: Sequencing Panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SHOX SLC25A12 SLC26A2

More info about this panel

Disproportionate Short Stature: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Disproportionate Short Stature: Deletion/Duplication Panel that also includes the following genes: ROR2 RUNX2 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TBCE TRIP11 TRPS1

More info about this panel

Skeletal Dysplasias NGS panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Skeletal Dysplasias NGS panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SLC25A12 SLC26A2 SMARCAL1

More info about this panel

CUL7 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CUL7 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

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

3-M SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL 3-M SYNDROME that also includes the following genes: CUL7 OBSL1

More info about this panel

3M Syndrome , Sequencing CUL7 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the CUL7 gene.

More info about this panel

3M Syndrome , Panel Massive Sequencing (NGS) CUL7, OBSL1, CCDC8 Genes Panel

Spain.

By Reference Laboratory Genetics 3M Syndrome , Panel Massive Sequencing (NGS) CUL7, OBSL1, CCDC8 Genes that also includes the following genes: CUL7 CCDC8 OBSL1

More info about this panel

3-M Syndrome: gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics 3-M Syndrome: gene sequencing panel that also includes the following genes: CUL7 CCDC8 OBSL1

More info about this panel


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