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Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
1 OMIM reference -
1 associated gene
33 connected diseases
No signs/symptoms info
Disease Type of connection
Mitochondrial trifunctional protein deficiency
Acute fatty liver of pregnancy
46,XY partial gonadal dysgenesis
Autosomal dominant hypohidrotic ectodermal dysplasia
46,XY complete gonadal dysgenesis
Amyotrophic lateral sclerosis
Autosomal recessive spastic paraplegia type 20
Common variable immunodeficiency
Fibronectin glomerulopathy
Intermittent hydrarthrosis
Leber congenital amaurosis
Senior-Loken syndrome
TRAPS syndrome
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
X-linked agammaglobulinemia
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Craniometaphyseal dysplasia
Dedifferentiated liposarcoma
Estrogen resistance syndrome
Huntington disease
Hypoplastic left heart syndrome
Juvenile Huntington disease
Oculodentodigital dysplasia
Syndactyly type 3
Well-differentiated liposarcoma
Wolf-Hirschhorn syndrome
X-linked Emery-Dreifuss muscular dystrophy
Connective tissue disorder due to lysyl hydroxylase-3 deficiency
Multiple acyl-CoA dehydrogenation deficiency, mild type
Multiple acyl-CoA dehydrogenation deficiency, severe neonatal type
Precursor T-cell acute lymphoblastic leukemia
STT3B-CDG
Synonym(s):
- LCHAD deficiency
- LCHADD
Classification (Orphanet):
- Inborn errors of metabolism
- Rare cardiac disease
- Rare endocrine disease
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
HADHA P40939600890
No signs/symptoms info available.