Hereditary Neuropathy - complex
Gene: HADHAEnsemblGeneIds (GRCh38): ENSG00000084754
EnsemblGeneIds (GRCh37): ENSG00000084754
OMIM: 600890, Gene2Phenotype
HADHA is in 17 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Patients with LCHAD are characterised with a MTP deficiency and present with variable phenotypes. LCHAD and MTP deficiency is associated with myopathy, recurrent rhabdomyolysis and axonal neuropathy. Typically these patients survive into adolescent and adulthood.
PMID: 8871579, 23868323, 33744096, 12838198, 36063482
Reported in LCHAD individuals with neuropathy however no genomic confirmation.
PMID: 36063482
Neuropathy is typically a long term complication in surviving individuals of LCHAD. And typically resembles axonal CMT.
Loss of function is the mechanism of disease - P.Glu510Gln - most common homozygous variant. Founder variant in the Kashubian ancestry.
Neuropathy phenotype can be explained by the functional and physical interaction of tri functional protein with the respiratory chain.Created: 13 Jul 2023, 5:56 a.m. | Last Modified: 13 Jul 2023, 5:56 a.m.
Panel Version: 0.169
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
LCHAD deficiency MIM#609016; Mitochondrial trifunctional protein deficiency MIM#609015
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- LCHAD deficiency MIM#609016
- Mitochondrial trifunctional protein deficiency MIM#609015
- Tags
- OMIM
- 600890
- Clinvar variants
- Variants in HADHA
- Penetrance
- None
- Publications
- Panels with this gene
-
- Rhabdomyolysis and Metabolic Myopathy
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- Cholestasis
- Cardiomyopathy_Paediatric
- Liver Failure_Paediatric
- Hereditary Neuropathy - complex
- BabyScreen+ newborn screening
- Mitochondrial disease
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Fatty Acid Oxidation Defects
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Hyperammonaemia
- Prepair 500+
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: hadha has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: HADHA were changed from Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency to LCHAD deficiency MIM#609016; Mitochondrial trifunctional protein deficiency MIM#609015
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: HADHA were set to
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag treatable tag was added to gene: HADHA.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: HADHA was added gene: HADHA was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HADHA were set to Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency