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.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

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.

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

Search interest in CUL7

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

CUL7 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to CUL7 gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Rare diseases associated to CUL7 gene

3M SYNDROME

Alternate names

Description

Most common symptoms of 3M SYNDROME

DWARFISM WITH TALL VERTEBRAE

Most common symptoms of DWARFISM WITH TALL VERTEBRAE

Search interest in CUL7

Potential gene panels for CUL7 gene

Hypospadias Sequencing Panel Panel

Comprehensive Primordial Dwarfism Panel Panel

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

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

Hypospadias Sequencing Panel with CNV Detection Panel

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

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

Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel

Three M syndrome NGS panel Panel

Three M syndrome Deletion / Duplication panel Panel

Three M syndrome Comprehensive panel Panel

Mental Retardation and Dysmorphology - panels Panel

Syndromal Diseases - panels Panel

3M SYNDROME Panel

Three M syndrome type 1 Panel

Micro syndrome panel Panel

Selected Genetic Syndromes with skeletal involvement Panel Panel

3M syndrome: CUL7 gene sequence analysis Panel

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

Disproportionate Short Stature: Sequencing Panel Panel

Skeletal Dysplasia: Sequencing Panel Panel

Disproportionate Short Stature: Deletion/Duplication Panel Panel

Skeletal Dysplasias NGS panel Panel

CUL7 Panel

Comprehensive Short Stature Syndrome Panel Panel

3-M Syndrome / Primordial Dwarfism Panel Panel

Skeletal Dysplasias Core Panel Panel

Comprehensive Skeletal Dysplasias and Disorders Panel Panel

Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel

3-M SYNDROME Panel

3M Syndrome , Sequencing CUL7 Gene Panel

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

3-M Syndrome: gene sequencing panel Panel