EHHADH gene related symptoms and diseases

All the information presented here about the EHHADH gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to EHHADH gene

Symptoms // Phenotype % Cases
Rickets Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Renal insufficiency Uncommon - Between 30% and 50% cases
Diabetes mellitus Uncommon - Between 30% and 50% cases
Acidosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with EHHADH gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Proteinuria
  • Hyperphosphaturia
  • Aminoaciduria
  • Glycosuria
  • Rarely - Less than 30% cases

  • Seizures
  • Cerebral hypoplasia
  • Cerebral dysmyelination
  • Enterocolitis

And 99 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to EHHADH gene

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


BIFUNCTIONAL ENZYME DEFICIENCY



More info about BIFUNCTIONAL ENZYME DEFICIENCY

SOURCES: ORPHANET

D-BIFUNCTIONAL PROTEIN DEFICIENCY


Alternate names

D-BIFUNCTIONAL PROTEIN DEFICIENCY Is also known as peroxisomal bifunctional enzyme deficiency, dbp deficiency, 17-beta-hydroxysteroid dehydrogenase iv deficiency, pbfe deficiency

Description

D-bifunctional protein deficiency is a disorder of peroxisomal fatty acid beta-oxidation. See also peroxisomal acyl-CoA oxidase deficiency (OMIM ), caused by mutation in the ACOX1 gene (OMIM ) on chromosome 17q25. The clinical manifestations of these 2 deficiencies are similar to those of disorders of peroxisomal assembly, including X-linked adrenoleukodystrophy (ALD ), Zellweger cerebrohepatorenal syndrome (see {214100}) and neonatal adrenoleukodystrophy (NALD; see {601539}) (Watkins et al., 1995).DBP deficiency has been classified into 3 subtypes depending upon the deficient enzyme activity. Type I is a deficiency of both 2-enoyl-CoA hydratase and 3-hydroxyacyl-CoA dehydrogenase; type II is a deficiency of hydratase activity alone; and type III is a deficiency of dehydrogenase activity alone. Virtually all patients with types I, II, and III have a severe phenotype characterized by infantile-onset of hypotonia, seizures, and abnormal facial features, and most die before age 2 years. McMillan et al. (2012) proposed a type IV deficiency on the basis of less severe features; these patients have a phenotype reminiscent of Perrault syndrome (PRLTS1 ). Pierce et al. (2010) noted that Perrault syndrome and DBP deficiency overlap clinically and suggested that DBP deficiency may be underdiagnosed.

Most common symptoms of D-BIFUNCTIONAL PROTEIN DEFICIENCY

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


More info about D-BIFUNCTIONAL PROTEIN DEFICIENCY

SOURCES: ORPHANET OMIM

PRIMARY FANCONI SYNDROME


Alternate names

PRIMARY FANCONI SYNDROME Is also known as fanconi syndrome without cystinosis, primary fanconi renotubular syndrome, renal fanconi syndrome, frts, luder-sheldon syndrome, fanconi renotubular syndrome, rfs, adult fanconi syndrome

Description

Fanconi renotubular syndrome is a consequence of decreased solute and water reabsorption in the proximal tubule of the kidney. Patients have polydipsia and polyuria with phosphaturia, glycosuria, and aminoaciduria. They may develop hypophosphatemic rickets or osteomalacia, acidosis, and a tendency toward dehydration. Some will eventually develop renal insufficiency. Common laboratory abnormalities include glucosuria with a normal serum glucose, hyperaminoaciduria, hypophosphatemia, progressive renal insufficiency, renal sodium and potassium wasting, acidosis, uricosuria, and low-molecular-weight proteinuria (summary by Lichter-Konecki et al., 2001). Genetic Heterogeneity of Fanconi Renotubular SyndromeFanconi renotubular syndrome-1 has been mapped to chromosome 15q15.3. See also FRTS2 (OMIM ), caused by mutation in the SLC34A1 gene (OMIM ) on chromosome 5q35; FRTS3 (OMIM ), caused by mutation in the EHHADH gene (OMIM ) on chromosome 3q27; and FRTS4 (OMIM ), which is associated with maturity-onset diabetes of the young (MODY), caused by mutation in the HNF4A gene (OMIM ) on chromosome 20q13.

Most common symptoms of PRIMARY FANCONI SYNDROME

  • Short stature
  • Growth delay
  • Muscle weakness
  • Renal insufficiency
  • Diabetes mellitus


More info about PRIMARY FANCONI SYNDROME

SOURCES: ORPHANET OMIM

FANCONI RENOTUBULAR SYNDROME 3; FRTS3


Most common symptoms of FANCONI RENOTUBULAR SYNDROME 3; FRTS3

  • Short stature
  • Renal insufficiency
  • Diabetes mellitus
  • Acidosis
  • Proteinuria


More info about FANCONI RENOTUBULAR SYNDROME 3; FRTS3

SOURCES: OMIM


Potential gene panels for EHHADH gene

Liver Diseases Panel by next-generation sequencing (NGS) Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Liver Diseases Panel by next-generation sequencing (NGS) that also includes the following genes: SCP2 SLC10A1 SLC10A2 SLC25A13 SLC27A5 SMPD1 HNF1A HNF1B TJP2 UGT1A1

More info about this panel

Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel

Portugal.

By CGC Genetics Lysosomal and peroxisomal diseases (NGS panel of 109 genes) that also includes the following genes: SC5D SCP2 SGSH SHOX SLC17A5 SMPD1 TCIRG1 ACOX1 ACP2 MCOLN1

More info about this panel

Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel

Portugal.

By CGC Genetics Lysosomal and peroxisomal diseases (NGS panel of 109 genes) that also includes the following genes: SC5D SCP2 SGSH SHOX SLC17A5 SMPD1 TCIRG1 ACOX1 ACP2 MCOLN1

More info about this panel

Hereditary kidney disorders - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8

More info about this panel

EHHADH Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the EHHADH gene.

More info about this panel

KidneySeq - 264 Genes Panel

United States.

By Iowa Institute of Human Genetics University of Iowa KidneySeq - 264 Genes that also includes the following genes: ROBO2 CNNM2 SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 BMP4 SEMA3E

More info about this panel


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