HSD17B4 gene related symptoms and diseases

All the information presented here about the HSD17B4 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.

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 HSD17B4 gene

Symptoms // Phenotype	% Cases
High palate	Common - Between 50% and 80% cases
Hearing impairment	Common - Between 50% and 80% cases
Cerebellar atrophy	Common - Between 50% and 80% cases
Nystagmus	Common - Between 50% and 80% cases
Hammertoe	Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with HSD17B4 gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases
Abnormal facial shape
Talipes equinovarus
Not very common - Between 30% and 50% cases
Seizures
Ataxia
Sensorineural hearing impairment
Spasticity
Ptosis
Peripheral neuropathy

And 116 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to HSD17B4 gene

Here you will find a list of rare diseases related to the HSD17B4. 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

PERRAULT SYNDROME

Alternate names

PERRAULT SYNDROME Is also known as ovarian dysgenesis with sensorineural deafness, gonadal dysgenesis, xx type, with deafness, xx gonodal dysgenesis-deafness syndrome

Description

Perrault syndrome (PS) is characterized by the association of ovarian dysgenesis in females with sensorineural hearing impairment. In more recent PS reports, some authors have described neurologic abnormalities, notably progressive cerebellar ataxia and intellectual deficit.

Most common symptoms of PERRAULT SYNDROME

Intellectual disability
Short stature
Hearing impairment
Scoliosis
Ataxia

More info about PERRAULT SYNDROME

SOURCES: ORPHANET OMIM

Search interest in HSD17B4

Potential gene panels for HSD17B4 gene

MitoMet®Plus aCGH Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65

HSD17B4 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to HSD17B4 gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Not very common - Between 30% and 50% cases

Rare diseases associated to HSD17B4 gene

BIFUNCTIONAL ENZYME DEFICIENCY

D-BIFUNCTIONAL PROTEIN DEFICIENCY

Alternate names

Description

Most common symptoms of D-BIFUNCTIONAL PROTEIN DEFICIENCY

PERRAULT SYNDROME

Alternate names

Description

Most common symptoms of PERRAULT SYNDROME

Search interest in HSD17B4

Potential gene panels for HSD17B4 gene

MitoMet®Plus aCGH Analysis Panel

GeneAware Complete Panel Version 2 (Female) Panel

GeneAware Complete Panel Version 2 (Male) Panel

Hearing Loss Advanced Sequencing and CNV Evaluation Panel

NGS Hearing Loss Panel Panel

Peroxisomal Beta-Oxidation Defects NGS Panel Panel

Zelweger Spectrum Disorder and Beta-Oxidation Defect NGS Panel Panel

Peroxisomal Disorders Comprehensive NGS Panel Panel

OtoSCOPE Panel

Hearing Loss Panel Panel

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

Ataxia Exome Panel Panel

OtoGenome Test for Hearing Loss (110 Genes) Panel

Expanded Hearing Loss Panel, Sequencing and Deletion/Duplication Panel

Peroxisomal Disorders Sequencing Panel Panel

Peroxisomal disorders Panel

HSD17B4. Complete sequencing Panel

Audiome (hearing loss panel) Panel

Perrault syndrome 1 (PRLTS1, sequence analysis of HSD17B4 gene) Panel

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

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

Peroxisomal Bifunctional Enzyme Deficiency Panel

Peroxisomal Disorders Sequencing Panel with CNV Detection Panel

Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection Panel

Perrault Syndrome Type 1 via HSD17B4 Gene Sequencing with CNV Detection Panel

Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection Panel

Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection Panel

Ambiguous Genitalia Sequencing Panel with CNV Detection Panel

Neurogenetic Disorders - panels Panel

AllNeuro panel Panel

CentoICU platinum plus Panel

New Born testing (CentoICU) Panel

Perrault syndrome Panel

Leukodystrophy / Leukencephalopathy and differential diagnoses Panel Panel

Single gene testing HSD17B4 Panel

Leukodystrophy / Leukoencephalopathy Panel Panel

Family Prep Screen Panel

Invitae Zellweger Spectrum Disorder Panel Panel

Leukodistrophy Panel

Peroxisomal disorders Panel

Perrault syndrome Panel

Hearing Loss: Sequencing Panel Panel

Pan-Ethnic Carrier Screen: Gene Sequencing Panel Panel

Hearing Loss: Deletion/Duplication Panel Panel

D-Bifunctional Protein Deficiency (HSD17B4) Panel

Inheritest NGS, Comprehensive Panel

Peroxisomal NGS Panel Panel

Nuclear-Mito NGS Panel Panel

HSD17B4 Panel

Comprehensive Hearing Loss and Deafness Panel Panel

Comprehensive Metabolism Panel Panel

Peroxisomal Disorders Panel Panel

D-bifunctional protein deficiency Panel

PERRAULT SYNDROME Panel

Bifunctional Enzyme Deficiency, Sequencing HSD17B4 Gene Panel

Perrault Syndrome Type 1 , Sequencing HSD17B4 Gene Panel

Leukodystrophies , Panel Massive Sequencing (NGS) 57 genes Panel

Peroxisomal and Lysosomal Diseases , Panel Massive Sequencing (NGS) 78 Genes Panel

Perrault Syndrome , Panel Massive Sequencing (NGS) 5 Genes Panel

Storage and Energetic Metabolism Diseases , Panel Massive Sequencing (NGS) 82 genes Panel

Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis Panel

Perrault Syndrome: gene sequencing panel Panel