UBE2A gene related symptoms and diseases

All the information presented here about the UBE2A gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET, 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 UBE2A gene

Symptoms // Phenotype	% Cases
Intellectual disability	Very Common - Between 80% and 100% cases
Broad hallux	Very Common - Between 80% and 100% cases
Hypopigmentation of the skin	Very Common - Between 80% and 100% cases
Nail dysplasia	Very Common - Between 80% and 100% cases
Wide intermamillary distance	Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with UBE2A gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases
Low posterior hairline
Increased body weight
Generalized hirsutism
Prominent supraorbital ridges
Myeloid leukemia
Downturned corners of mouth
Acute myeloid leukemia
Broad neck

And 29 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to UBE2A gene

Here you will find a list of rare diseases related to the UBE2A. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

X-LINKED INTELLECTUAL DISABILITY, NASCIMENTO TYPE

Alternate names

X-LINKED INTELLECTUAL DISABILITY, NASCIMENTO TYPE Is also known as mrxs30, mental retardation, x-linked, syndromic 30, x-linked intellectual disability-nail dystrophy-seizures syndrome

Description

X-linked intellectual disability, Nascimento type is a rare X-linked intellectual disability syndrome characterized by intellectual disability (with severe speech impairment), a myxedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures.

Most common symptoms of X-LINKED INTELLECTUAL DISABILITY, NASCIMENTO TYPE

Intellectual disability
Seizures
Depressed nasal bridge
Macrocephaly
Short neck

More info about X-LINKED INTELLECTUAL DISABILITY, NASCIMENTO TYPE

SOURCES: ORPHANET OMIM

Search interest in UBE2A

Potential gene panels for UBE2A gene

NGS XLID Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS XLID Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1

UBE2A gene related symptoms and diseases

Top 5 symptoms and clinical features associated to UBE2A gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Rare diseases associated to UBE2A gene

X-LINKED INTELLECTUAL DISABILITY, NASCIMENTO TYPE

Alternate names

Description

Most common symptoms of X-LINKED INTELLECTUAL DISABILITY, NASCIMENTO TYPE

Search interest in UBE2A

Potential gene panels for UBE2A gene

NGS XLID Panel Panel

X-Linked Intellectual Disabilities Deletion/Duplication Panel

X-linked Intellectual Disabilities Sequencing Panel

X-Linked Intellectual Disabilities Sequencing and Deletion/Duplication Panel

Non-Specific Intellectual Disability Panel Panel

X-linked Non-Specific Intellectual Disability Panel Panel

CustomNext: Neuro Panel

Neurodevelopment-Expanded Panel

UBE2A gene sequence and deletion/duplication Panel

IDNext Panel

Mental retardation, X-linked syndromic, Nascimento-type (sequence analysis of UBE2A gene) Panel

Mental retardation, X-linked (NGS panel for 89 genes) Panel

X-Linked Intellectual Disability Sequencing Panel with CNV Detection Panel

X-linked Intellectual Disability via UBE2A Gene Sequencing with CNV Detection Panel

Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection Panel

Mental retardation - different panels Panel

Mental Retardation and Dysmorphology - panels Panel

Syndromal Diseases - panels Panel

X-Linked Mental Retardation Panel

Brain Malformations / Neuronal Migration Disorders Panel

AllNeuro panel Panel

Mental retardation, X-linked syndromic, Nascimento-type Panel

Epilepsy and X-linked Mental Retardation with Seizures Panel Panel

Mental retardation, X-linked syndromic, Nascimento type Panel

Mental retardation, X-linked syndromic, Nascimento type Panel

UBE2A-Related Syndromic XLMR: UBE2A Full Gene Sequencing Panel

UBE2A-Related Syndromic XLMR: UBE2A Gene Deletion/Duplication Panel

X-linked Intellectual Disability: Gene Sequencing and Deletion/Duplication Panel Panel

Autism Spectrum Disorders: Tier 2 Panel Panel

Autism Spectrum Disorders: Tier 2 Deletion/Duplication Panel Panel

Intellectual Disability NGS Panel Panel

XLID NGS Panel Panel

UBE2A Panel

Comprehensive Epilepsy NGS Panel Panel

X-chromosome High Resolution microarray analysis Panel

X-linked Intellectual Disability Panel Panel

Facial Dysostosis and Related Disorders Panel Panel

Comprehensive Epilepsy Panel Panel