ATP7A gene related symptoms and diseases

All the information presented here about the ATP7A 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 ATP7A gene

Symptoms // Phenotype	% Cases
Intellectual disability	Common - Between 50% and 80% cases
Chronic diarrhea	Common - Between 50% and 80% cases
Inguinal hernia	Common - Between 50% and 80% cases
Osteoporosis	Common - Between 50% and 80% cases
Umbilical hernia	Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with ATP7A gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases
Jaundice
Joint laxity
Narrow chest
Joint hyperflexibility
Abnormality of the face
Wormian bones
Hernia
Cutis laxa

And 197 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to ATP7A gene

Here you will find a list of rare diseases related to the ATP7A. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

MENKES DISEASE

Alternate names

MENKES DISEASE Is also known as steely hair syndrome, md, trichopoliodystrophy, mnk, menkes syndrome, steely hair disease, copper transport disease, mk, kinky hair syndrome, x-linked copper deficiency, kinky hair disease

Description

Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair.

Most common symptoms of MENKES DISEASE

Intellectual disability
Seizures
Global developmental delay
Short stature
Generalized hypotonia

More info about MENKES DISEASE

SOURCES: OMIM ORPHANET MESH

OCCIPITAL HORN SYNDROME

Alternate names

OCCIPITAL HORN SYNDROME Is also known as eds ix, formerly, eds ix, ehlers-danlos syndrome type ix, ehlers-danlos syndrome type 9, x-linked cutis laxa, ehlers-danlos syndrome, occipital horn type, formerly, eds9, formerly, cutis laxa, x-linked, formerly

Description

Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD, see this term), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect.

Most common symptoms of OCCIPITAL HORN SYNDROME

Intellectual disability
Seizures
Global developmental delay
Generalized hypotonia
Scoliosis

More info about OCCIPITAL HORN SYNDROME

SOURCES: MESH OMIM ORPHANET

X-LINKED DISTAL SPINAL MUSCULAR ATROPHY TYPE 3

Alternate names

X-LINKED DISTAL SPINAL MUSCULAR ATROPHY TYPE 3 Is also known as x-linked dhmn3, atp7a-related distal motor neuropathy, dsmax, x-linked distal hereditary motor neuropathy type 3, smax3, spinal muscular atrophy, distal, x-linked recessive, x-linked dsma3

Description

X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males.

Most common symptoms of X-LINKED DISTAL SPINAL MUSCULAR ATROPHY TYPE 3

Peripheral neuropathy
Skeletal muscle atrophy
Gait disturbance
Hyporeflexia
Pes cavus

More info about X-LINKED DISTAL SPINAL MUSCULAR ATROPHY TYPE 3

SOURCES: ORPHANET MESH OMIM

Search interest in ATP7A

Potential gene panels for ATP7A gene

ATP7A Comprehensive - Sequence & Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the ATP7A gene.

ATP7A gene related symptoms and diseases

Top 5 symptoms and clinical features associated to ATP7A gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Rare diseases associated to ATP7A gene

MENKES DISEASE

Alternate names

Description

Most common symptoms of MENKES DISEASE

OCCIPITAL HORN SYNDROME

Alternate names

Description

Most common symptoms of OCCIPITAL HORN SYNDROME

X-LINKED DISTAL SPINAL MUSCULAR ATROPHY TYPE 3

Alternate names

Description

Most common symptoms of X-LINKED DISTAL SPINAL MUSCULAR ATROPHY TYPE 3

Search interest in ATP7A

Potential gene panels for ATP7A gene

ATP7A Comprehensive - Sequence & Deletion/Duplication Analysis Panel

ATP7A Deletion/Duplication Analysis Panel

ATP7A Sequence Analysis Panel

ATP7A Sequence Analysis (Prenatal Diagnosis) Panel

MitoMet®Plus aCGH Analysis Panel

NGS XLID Panel Panel

NGS Connective Tissue Disorders Panel Panel

Copper Transport Disorders Panel

Neuromuscular Disorders Panel Panel

Comprehensive Ehlers-Danlos Syndrome Panel Panel

X-Linked Intellectual Disabilities Deletion/Duplication Panel

X-linked Intellectual Disabilities Sequencing Panel

X-Linked Intellectual Disabilities Sequencing and Deletion/Duplication Panel

ATP7A-Related Copper Transport Disorders Panel

ATP7A sequencing Panel

ATP7A deletion/duplication analysis Panel

ATP7A-Related Copper Transport Disorders (ATP7A), Sequencing Panel

ATP7A-Related Copper Transporter Disorders (ATP7A) Deletion/Duplication Panel

ATP7A-Related Copper Transport Disorders (ATP7A) Sequencing and Deletion/Duplication Panel

Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel Panel

Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel, Sequencing Panel

Connective Tissue Disorders Panel Panel

Ehlers-Danlos Syndrome Panel Panel

CustomNext: Neuro Panel

Neurodevelopment-Expanded Panel

IDNext Panel

Menkes disease Panel

ATP7A. Complete sequencing Panel

ATP7A. MLPA testing Panel

Menkes Disease (sequence analysis of ATP7A gene) Panel

Menkes disease (deletion/duplication analysis on ATP7A gene) Panel

Spinal muscular atrophy, X-linked (SMAX3, sequence analysis of ATP7A gene) Panel

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

Spinal muscular atrophy (NGS panel for 21 genes) Panel

Ehlers-Danlos Syndromes Sequencing Panel with CNV Detection Panel

Distal Hereditary Motor Neuropathy Sequencing Panel with CNV Detection Panel

Menkes Disease and Hereditary Motor Neuropathy via ATP7A Gene Sequencing with CNV Detection Panel

Comprehensive Neuropathy Sequencing Panel with CNV Detection Panel

Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection Panel

Distal hereditary motor neuropathy and related disorders Deletion / Duplication panel Panel

Ehlers-Danlos syndrome Deletion / Duplication panel - Recessive Panel

Ehlers-Danlos syndrome NGS panel - Dominant & Recessive Panel

Ehlers-Danlos syndrome Comprehensive panel - Recessive Panel

Distal hereditary motor neuropathy and related disorders NGS panel Panel

Ehlers-Danlos syndrome NGS panel - Recessive Panel

Distal hereditary motor neuropathy and related disorders Comprehensive panel Panel

Ehlers-Danlos syndrome Deletion / Duplication panel - Dominant & Recessive Panel

Ehlers-Danlos syndrome Comprehensive panel - Dominant & Recessive Panel

Menkes disease Deletion / Duplication Test Panel

Menkes disease Comprehensive Test Panel

Menkes disease NGS Test Panel

Connective tissue disorder Deletion / Duplication panel Panel

Connective tissue disorder Comprehensive panel Panel

Connective tissue disorder NGS panel Panel

Mental retardation - different panels Panel

Neuropathy Panel

ATP7A-Related Copper Transport Disorders Panel

Mental Retardation and Dysmorphology - panels Panel

Syndromal Diseases - panels Panel

X-Linked Mental Retardation Panel

Menkes disease Panel