PNPLA6 gene related symptoms and diseases

All the information presented here about the PNPLA6 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to PNPLA6 gene

Symptoms // Phenotype % Cases
Ataxia Very Common - Between 80% and 100% cases
Paraplegia Uncommon - Between 30% and 50% cases
Hypogonadotrophic hypogonadism Uncommon - Between 30% and 50% cases
Nystagmus Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with PNPLA6 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Spastic paraplegia
  • Hypogonadism
  • Distal amyotrophy
  • Gait ataxia
  • Cerebellar atrophy
  • Peripheral neuropathy
  • Cognitive impairment
  • Intellectual disability

And 110 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to PNPLA6 gene

Here you will find a list of rare diseases related to the PNPLA6. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


TRICHOMEGALY-RETINA PIGMENTARY DEGENERATION-DWARFISM SYNDROME

Alternate names

TRICHOMEGALY-RETINA PIGMENTARY DEGENERATION-DWARFISM SYNDROME Is also known as oliver-mcfarlane syndrome, long eyelashes-intellectual disability syndrome

Description

Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by hair abnormalities, severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability.


More info about TRICHOMEGALY-RETINA PIGMENTARY DEGENERATION-DWARFISM SYNDROME

SOURCES: ORPHANET

LAURENCE-MOON SYNDROME

Description

Laurence-Moon syndrome (LMS) is a very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy.

Most common symptoms of LAURENCE-MOON SYNDROME

  • Intellectual disability
  • Short stature
  • Ataxia
  • Nystagmus
  • Strabismus


More info about LAURENCE-MOON SYNDROME

SOURCES: ORPHANET

ATAXIA-HYPOGONADISM-CHOROIDAL DYSTROPHY SYNDROME

Alternate names

ATAXIA-HYPOGONADISM-CHOROIDAL DYSTROPHY SYNDROME Is also known as boucher-neuhÄuser syndrome

Description

Ataxia-hypogonadism-choroidal dystrophy syndrome is a very rare autosomal recessive, slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia (that generally manifests at adolescence or early adulthood), chorioretinal dystrophy, which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome (see this term).

Most common symptoms of ATAXIA-HYPOGONADISM-CHOROIDAL DYSTROPHY SYNDROME

  • Ataxia
  • Hypogonadotrophic hypogonadism
  • Chorioretinal dystrophy


More info about ATAXIA-HYPOGONADISM-CHOROIDAL DYSTROPHY SYNDROME

SOURCES: ORPHANET

CEREBELLAR ATAXIA-HYPOGONADISM SYNDROME

Alternate names

CEREBELLAR ATAXIA-HYPOGONADISM SYNDROME Is also known as luteinizing hormone-releasing hormone deficiency with ataxia, gordon-holmes syndrome

Description

Cerebellar ataxia-hypogonadism syndrome is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia-hypogonadism syndrome belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as ataxia-hypogonadism-choroidal dystrophy syndrome (see this term).

Most common symptoms of CEREBELLAR ATAXIA-HYPOGONADISM SYNDROME

  • Short stature
  • Ataxia
  • Nystagmus
  • Muscular hypotonia
  • Optic atrophy


More info about CEREBELLAR ATAXIA-HYPOGONADISM SYNDROME

SOURCES: ORPHANET

OLIVER-MCFARLANE SYNDROME; OMCS

Alternate names

OLIVER-MCFARLANE SYNDROME; OMCS Is also known as eyelashes, long, with mental retardation, trichomegaly with mental retardation, dwarfism, and pigmentary degeneration of retina

Description

Oliver-McFarlane syndrome is a rare congenital disorder characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies, including growth hormone (GH ), gonadotropins (see {118860}), and thyroid-stimulating hormone (TSH; see {118850}). Thyroid and GH abnormalities may be present at birth and, if untreated, result in intellectual impairment and profound short stature. Congenital hypogonadism occurs in half of patients, and nearly all have documented hypogonadotropic hypogonadism during puberty, with subsequent reproductive dysfunction. Chorioretinal atrophy is typically noted in the first 5 years of life. Half of reported cases have spinocerebellar involvement, including ataxia, spastic paraplegia, and peripheral neuropathy (summary by Hufnagel et al., 2015).Laurence-Moon syndrome (OMIM ) is an allelic disorder with overlapping features.

Most common symptoms of OLIVER-MCFARLANE SYNDROME; OMCS

  • Intellectual disability
  • Short stature
  • Ataxia
  • Growth delay
  • Nystagmus


More info about OLIVER-MCFARLANE SYNDROME; OMCS

SOURCES: OMIM

LAURENCE-MOON SYNDROME; LNMS

Description

Laurence-Moon syndrome has a clinical presentation similar to that of Oliver-McFarlane syndrome (OMIM ), including chorioretinopathy and pituitary dysfunction, but with childhood onset of ataxia, peripheral neuropathy, and spastic paraplegia and without trichomegaly. Historically, Laurence-Moon syndrome has been associated with Bardet-Biedl syndrome (see BBS, {209900}) (summary by Hufnagel et al., 2015).Oliver-McFarlane syndrome is an allelic disorder.

Most common symptoms of LAURENCE-MOON SYNDROME; LNMS

  • Intellectual disability
  • Short stature
  • Ataxia
  • Growth delay
  • Nystagmus


More info about LAURENCE-MOON SYNDROME; LNMS

SOURCES: OMIM

BOUCHER-NEUHAUSER SYNDROME; BNHS

Alternate names

BOUCHER-NEUHAUSER SYNDROME; BNHS Is also known as spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy

Description

Boucher-Neuhauser syndrome is an autosomal recessive disorder characterized classically by the triad of spinocerebellar ataxia, hypogonadotropic hypogonadism, and visual impairment due to chorioretinal dystrophy. The age at onset is variable, but most patients develop one or more symptoms in the first decade of life. Chorioretinal dystrophy may not always be present. BNHS is part of a spectrum of neurodegenerative diseases associated with mutations in the PNPLA6 gene that also includes spastic paraplegia-39 (SPG39 ) (summary by Synofzik et al., 2014).See also Gordon Holmes syndrome (GDHS ), caused by mutation in the RNF216 gene (OMIM ), which is also characterized by the combination of cerebellar ataxia and hypogonadotropic hypogonadism.

Most common symptoms of BOUCHER-NEUHAUSER SYNDROME; BNHS

  • Ataxia
  • Spasticity
  • Cognitive impairment
  • Visual impairment
  • Dysarthria


More info about BOUCHER-NEUHAUSER SYNDROME; BNHS

SOURCES: OMIM

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 39

Alternate names

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 39 Is also known as spastic paraplegia due to neuropathy target esterase mutation, spg39, nte-related motor neuron disorder, spastic paraplegia due to nte mutation, ntemnd

Description

This syndrome is characterised by progressive spastic paraplegia and distal muscle wasting.

Most common symptoms of AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 39

  • Ataxia
  • Spasticity
  • Cognitive impairment
  • Peripheral neuropathy
  • Hyperreflexia


More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 39

SOURCES: MESH ORPHANET OMIM


Potential gene panels for PNPLA6 gene

HSP, Comprehensive Evaluation Panel

United States.

By Athena Diagnostics Inc HSP, Comprehensive Evaluation that also includes the following genes: RTN2 SACS SPG11 ATL1 SPAST SPG7 BSCL2 PNPLA6 NIPA1 SPART

More info about this panel
United States.

HSP, Supplemental Sporadic Evaluation Panel

United States.

By Athena Diagnostics Inc HSP, Supplemental Sporadic Evaluation that also includes the following genes: RTN2 SACS SPG11 ATL1 BSCL2 PNPLA6 NIPA1 SPART SPG21 ZFYVE26

More info about this panel
United States.

HSP, Supplemental Recessive Evaluation Panel

United States.

By Athena Diagnostics Inc HSP, Supplemental Recessive Evaluation that also includes the following genes: SACS PNPLA6 SPART SPG21 FA2H AP5Z1 CYP7B1 ALS2 KIF1A

More info about this panel
United States.

HSP, Complete Recessive Evaluation Panel

United States.

By Athena Diagnostics Inc HSP, Complete Recessive Evaluation that also includes the following genes: SACS SPG11 SPG7 PNPLA6 SPART SPG21 ZFYVE26 FA2H AP5Z1 CYP7B1

More info about this panel
United States.

Hereditary Spastic Paraplegia Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Hereditary Spastic Paraplegia Panel that also includes the following genes: RTN2 SACS SLC16A2 SLC2A1 KDM5C SPG11 ATL1 SPAST SPG7 TFG

More info about this panel
United States.

Test for Spastic Paraplegia 39 Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht

This panel specifically test the PNPLA6 gene.

More info about this panel
Netherlands.

HSPAR panel Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht HSPAR panel that also includes the following genes: SACS SPG11 SPG7 CCT5 PNPLA6 GJC2 SPART SPG21 ZFYVE26 CYP7B1

More info about this panel
Netherlands.

Hereditary Spastic Paraplegia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Hereditary Spastic Paraplegia Exome Panel that also includes the following genes: RTN2 SACS SLC16A2 SLC2A1 KDM5C SPG11 ATL1 SPAST SPG7 VAMP1

More info about this panel
United States.

Ataxia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2

More info about this panel
United States.

Spastic paraplegia 39, AUTOSOMAL RECESSIVE Panel

Switzerland.

By Human Genetics University Hospital Bern

This panel specifically test the PNPLA6 gene.

More info about this panel
Switzerland.

PNPLA6. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the PNPLA6 gene.

More info about this panel
Spain.

Spastic Paraplegia 39 (sequence analysis of PNPLA6 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the PNPLA6 gene.

More info about this panel
Portugal.

Hereditary spastic paraplegia AR, X-linked (NGS panel for 33 genes) Panel

Portugal.

By CGC Genetics Hereditary spastic paraplegia AR, X-linked (NGS panel for 33 genes) that also includes the following genes: SPG11 SPG7 TFG ERLIN2 PNPLA6 GJC2 SPART GBA2 DDHD1 TECPR2

More info about this panel
Portugal.

Hereditary spastic paraplegia (NGS panel for 43 genes) Panel

Portugal.

By CGC Genetics Hereditary spastic paraplegia (NGS panel for 43 genes) that also includes the following genes: RTN2 SPG11 ATL1 SPAST SPG7 TFG ERLIN2 BSCL2 PNPLA6 NIPA1

More info about this panel
Portugal.

Boucher-Neuhauser syndrome (sequence analysis of PNPLA6 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the PNPLA6 gene.

More info about this panel
Portugal.

Boucher-Neuhauser syndrome (sequence analysis of PNPLA6 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the PNPLA6 gene.

More info about this panel
Portugal.

Complex Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Complex Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection that also includes the following genes: SACS SLC16A2 KDM5C SPG11 ATL1 SPAST SPG7 TFG UCHL1 USP8

More info about this panel
United States.

Hereditary Spastic Paraplegia Comprehensive Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hereditary Spastic Paraplegia Comprehensive Sequencing Panel with CNV Detection that also includes the following genes: RTN2 SACS SLC16A2 KDM5C SPG11 ATL1 SPAST SPG7 TFG UCHL1

More info about this panel
United States.

Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel
United States.

Neurogenetic Disorders - panels Panel

Germany.

By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2

More info about this panel
Germany.

SPG39 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the PNPLA6 gene.

More info about this panel
Germany.

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel
Germany.

Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel Panel

Germany.

By CeGaT GmbH Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel that also includes the following genes: RTN2 SACS AIMP1 SLC16A2 SLC1A4 SLC25A15 SOD1 SOX10 SPG11 ATL1

More info about this panel
Germany.

Ataxia and differential diagnoses Panel Panel

Germany.

By CeGaT GmbH Ataxia and differential diagnoses Panel that also includes the following genes: RPIA SACS ATXN1 ATXN10 ATXN2 ATXN7 SCN2A SLC17A5 SLC1A3 SLC6A1

More info about this panel
Germany.

Hereditary spastic paraplegia (HSP), autosomal recessive and X-linked Panel Panel

Germany.

By CeGaT GmbH Hereditary spastic paraplegia (HSP), autosomal recessive and X-linked Panel that also includes the following genes: SLC1A4 SPG11 SPG7 TFG ERLIN2 ABHD12 CCT5 PNPLA6 GJC2 REEP2

More info about this panel
Germany.

Hereditary Spastic Paraplegia Panel

Estonia.

By Asper Biogene Asper Biogene LLC Hereditary Spastic Paraplegia that also includes the following genes: RTN2 SLC16A2 SPG11 ATL1 SPAST SPG7 ERLIN2 BSCL2 PNPLA6 NIPA1

More info about this panel
Estonia.

Spinocerebellar Ataxia Panel

Estonia.

By Asper Biogene Asper Biogene LLC Spinocerebellar Ataxia that also includes the following genes: SACS SLC9A1 SLC9A6 SPTBN2 STUB1 TWNK ACO2 TTPA WFS1 WWOX

More info about this panel
Estonia.

Retinal Dystrophy Panel Panel

United States.

By Molecular Vision Laboratory Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel
United States.

MVL Vision Panel Panel

United States.

By Molecular Vision Laboratory MVL Vision Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel
United States.

Invitae Hereditary Spastic Paraplegia Autosomal Recessive Panel Panel

United States.

By Invitae Invitae Hereditary Spastic Paraplegia Autosomal Recessive Panel that also includes the following genes: SACS SPG11 SPG7 ERLIN2 PNPLA6 GJC2 SPART GBA2 DDHD1 TECPR2

More info about this panel
United States.

Invitae Hereditary Spastic Paraplegia Comprehensive Panel Panel

United States.

By Invitae Invitae Hereditary Spastic Paraplegia Comprehensive Panel that also includes the following genes: RTN2 SACS SLC16A2 KDM5C SPG11 ATL1 SPAST SPG7 VAMP1 ERLIN2

More info about this panel
United States.

SPASTIC PARAPLEGIA A.R Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases SPASTIC PARAPLEGIA A.R that also includes the following genes: SPG11 SPG7 ERLIN2 PNPLA6 GJC2 SPART SPG21 ZFYVE26 FA2H AP5Z1

More info about this panel
Spain.

Hereditary Neuropathies: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Neuropathies: Sequencing Panel that also includes the following genes: SACS SCN9A SLC12A6 SLC1A3 SPG11 ATL1 SPAST SPG7 SPTBN2 SPTLC1

More info about this panel
United States.

Hereditary Neuropathies: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Neuropathies: Deletion/Duplication Panel that also includes the following genes: SACS SCN9A SLC12A6 SLC1A3 SPG11 ATL1 SPAST SPG7 SPTBN2 SPTLC1

More info about this panel
United States.

PNPLA6 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the PNPLA6 gene.

More info about this panel
United States.

Retinal Dystrophy Panel Panel

Finland.

By Blueprint Genetics Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR RS1 CNNM4

More info about this panel
Finland.

Spastic Paraplegia Panel Panel

Finland.

By Blueprint Genetics Spastic Paraplegia Panel that also includes the following genes: SACS SLC16A2 SLC25A15 KDM5C BTD SPG11 ATL1 SPAST SPG7 SPR

More info about this panel
Finland.

Ataxia Panel Panel

Finland.

By Blueprint Genetics Ataxia Panel that also includes the following genes: SACS SLC1A3 SLC20A2 SLC2A1 SLC9A6 SPG7 SPTBN2 STUB1 TWNK ACO2

More info about this panel
Finland.

Ciliopathy Panel Panel

Finland.

By Blueprint Genetics Ciliopathy Panel that also includes the following genes: SDCCAG8 CEP41 CFAP410 USP9X ZIC3 ARL6 NEK8 IFT122 IFT81 TMEM237

More info about this panel
Finland.

Bardet-Biedl Syndrome Panel Panel

Finland.

By Blueprint Genetics Bardet-Biedl Syndrome Panel that also includes the following genes: SDCCAG8 ARL6 PNPLA6 TRIM32 BBS7 TTC8 BBS10 BBS12 C8orf37 WDPCP

More info about this panel
Finland.

Autosomal recessive spastic paraplegia type 39 Panel

Spain.

By Bioarray

This panel specifically test the PNPLA6 gene.

More info about this panel
Spain.

SPASTIC PARAPLEGIA, FAMILIAL (AUTOSOMAL RECESSIVE) Panel

Spain.

By Laboratorio de Genetica Clinica SL SPASTIC PARAPLEGIA, FAMILIAL (AUTOSOMAL RECESSIVE) that also includes the following genes: SPG11 SPG7 PNPLA6 SPART SPG21 ZFYVE26 AP5Z1 CYP7B1

More info about this panel
Spain.

SPASTIC PARAPLEGIA, FAMILIAL NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL SPASTIC PARAPLEGIA, FAMILIAL NGS PANEL that also includes the following genes: RTN2 SACS SLC16A2 SPG11 ATL1 SPAST SPG7 TFG TTR VCP

More info about this panel
Spain.

Familial Spastic Paraplegia Type 39 , Sequencing PNPLA6 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the PNPLA6 gene.

More info about this panel
Spain.

Autosomal Recessive Familial Spastic Paraplegia , Panel Massive Sequencing (NGS) 10 Genes Panel

Spain.

By Reference Laboratory Genetics Autosomal Recessive Familial Spastic Paraplegia , Panel Massive Sequencing (NGS) 10 Genes that also includes the following genes: SPG11 SPG7 PNPLA6 GJC2 SPART FA2H AP5Z1 CYP7B1 ALS2 KIF1A

More info about this panel
Spain.

Familial Spastic Paraplegia , Panel Massive Sequencing (NGS) 22 Genes Panel

Spain.

By Reference Laboratory Genetics Familial Spastic Paraplegia , Panel Massive Sequencing (NGS) 22 Genes that also includes the following genes: SPG11 ATL1 SPAST SPG7 BSCL2 PNPLA6 NIPA1 GJC2 SPART ZFYVE26

More info about this panel
Spain.

PNPLA6-Related Disorders: gene sequencing Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the PNPLA6 gene.

More info about this panel
Canada.

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