NAA10 gene related symptoms and diseases

All the information presented here about the NAA10 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,NCBIGENE,HGNC, 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 NAA10 gene

Symptoms // Phenotype	% Cases
Intellectual disability	Very Common - Between 80% and 100% cases
Cryptorchidism	Very Common - Between 80% and 100% cases
Global developmental delay	Very Common - Between 80% and 100% cases
Autistic behavior	Very Common - Between 80% and 100% cases
Abnormality of the dentition	Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with NAA10 gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases
High palate
Low-set ears
High, narrow palate
Microcephaly
Growth delay
Scoliosis
Short stature
Generalized hypotonia

And 163 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to NAA10 gene

Here you will find a list of rare diseases related to the NAA10. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

OGDEN SYNDROME

Alternate names

OGDEN SYNDROME Is also known as n-terminal acetyltransferase deficiency, premature aging appearance-developmental delay-cardiac arrhythmia syndrome, natd

Description

Ogden syndrome is a rare, genetic progeroid syndrome characterized by a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrthymias and skeletal anomalies. Patients typically present with widely opened fontanels, mainly truncal hypotonia, a waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat.

Most common symptoms of OGDEN SYNDROME

Intellectual disability
Global developmental delay
Short stature
Generalized hypotonia
Microcephaly

More info about OGDEN SYNDROME

SOURCES: ORPHANET OMIM

MICROPHTHALMIA, LENZ TYPE

Alternate names

MICROPHTHALMIA, LENZ TYPE Is also known as lenz microphthalmia syndrome, lenz dysplasia, lenz microphthalmia, maa, formerly

Description

Lenz microphthalmia syndrome is a very rare X-linked inherited form of syndromic microphthalmia (see this term) characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly (see these terms)), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome (see these terms).

Most common symptoms of MICROPHTHALMIA, LENZ TYPE

Intellectual disability
Seizures
Global developmental delay
Short stature
Generalized hypotonia

More info about MICROPHTHALMIA, LENZ TYPE

SOURCES: ORPHANET OMIM MESH

Search interest in NAA10

Potential gene panels for NAA10 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

NAA10 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to NAA10 gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Rare diseases associated to NAA10 gene

OGDEN SYNDROME

Alternate names

Description

Most common symptoms of OGDEN SYNDROME

MICROPHTHALMIA, LENZ TYPE

Alternate names

Description

Most common symptoms of MICROPHTHALMIA, LENZ TYPE

Search interest in NAA10

Potential gene panels for NAA10 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

Microphthalmia (NGS panel for 26 genes) Panel

Microphthalmia, syndromic type 1 (deletion/duplication analysis of NAA10 gene) Panel

Microphthalmia, syndromic type 1 (sequence analysis of NAA10 gene) Panel

Microphthalmia, syndromic type 1 (sequence analysis of NAA10 gene) Panel

Microphthalmia, syndromic type 1 (deletion/duplication analysis of NAA10 gene) Panel

X-Linked Intellectual Disability Sequencing Panel with CNV Detection Panel

X-linked Lenz Microphthalmia Syndrome and Lethal Ogden Syndrome via NAA10 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

Ogden syndrome Panel

Microphthalmia, syndromic type 1 Panel

AllNeuro panel Panel

CentoICU platinum plus Panel

New Born testing (CentoICU) Panel

Microphthalmy Panel Panel

Eye diseases comprehensive panel Panel

Developmental Eye Disease panel Panel

qGenEx Craniofacial Anomalies Panel

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

XLID NGS Panel Panel

NAA10 Panel

X-chromosome High Resolution microarray analysis Panel

Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel Panel

ANOPHTHALMIA/ MICROPHTALMIA: NGS PANEL Panel

Lenz Microphthalmia Syndrome: gene sequencing panel Panel