MCID: PNP004
MIFTS: 14

Pnpla6-Related Disorders

Aliases & Classifications for Pnpla6-Related Disorders

MalaCards integrated aliases for Pnpla6-Related Disorders:

Name: Pnpla6-Related Disorders 24 37 6

Characteristics:

GeneReviews:

24
Penetrance Penetrance appears to be complete in individuals with biallelic pnpla6 pathogenic variants.

External Ids:

KEGG 37 H01898

Summaries for Pnpla6-Related Disorders

KEGG : 37
PNPLA6-related disorders have been implicated in a broad spectrum of neurodegenerative disorders. The phenotypic spectrum includes at least four clinical key features: ataxia, motor neuron disease (upper motor neuron disease with or without additional lower motor neuropathy), hypogonadism, and chorioretinal dystrophy. Although these clinical features appear to be frequent in PNPLA6 disease none of them is an obligate feature of the disease. The majority of the PNPLA6 mutations affect a phospholipid esterase domain in neuropathy target esterase (NTE), which has been shown to de-esterify phosphatidylcholine, a major component of biological membranes, into its constituent fatty acids and glycerophosphocholine. Other phenotypes caused by NTE dysfunction due to PNPLA6 mutations include anterior hypopituitarism, trichomegaly, alopecia, and facial dysmorphisms.

MalaCards based summary : Pnpla6-Related Disorders is related to gordon holmes syndrome and boucher-neuhauser syndrome. An important gene associated with Pnpla6-Related Disorders is PNPLA6 (Patatin Like Phospholipase Domain Containing 6), and among its related pathways/superpathways is Glycerophospholipid metabolism.

GeneReviews: NBK247161

Related Diseases for Pnpla6-Related Disorders

Graphical network of the top 20 diseases related to Pnpla6-Related Disorders:



Diseases related to Pnpla6-Related Disorders

Symptoms & Phenotypes for Pnpla6-Related Disorders

Drugs & Therapeutics for Pnpla6-Related Disorders

Search Clinical Trials , NIH Clinical Center for Pnpla6-Related Disorders

Genetic Tests for Pnpla6-Related Disorders

Anatomical Context for Pnpla6-Related Disorders

Publications for Pnpla6-Related Disorders

Articles related to Pnpla6-Related Disorders:

(show all 31)
# Title Authors PMID Year
1
Ataxia meets chorioretinal dystrophy and hypogonadism: Boucher-Neuhäuser syndrome due to PNPLA6 mutations. 4
24790214 2015
2
Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes. 4
25480986 2015
3
Boucher-Neuhäuser syndrome: cerebellar degeneration, chorioretinal dystrophy and hypogonadotropic hypogonadism: two novel cases and a review of 40 cases from the literature. 4
25359264 2015
4
Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness. 4
25574898 2015
5
Compound heterozygous PNPLA6 mutations cause Boucher-Neuhäuser syndrome with late-onset ataxia. 4
25267340 2014
6
Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohorts. 4
24742043 2014
7
Consensus paper: management of degenerative cerebellar disorders. 4
24222635 2014
8
Ataxia and hypogonadism caused by the loss of ubiquitin ligase activity of the U box protein CHIP. 4
24113144 2014
9
The effectiveness of allied health care in patients with ataxia: a systematic review. 4
23589192 2014
10
PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum. 4
24355708 2014
11
Motor training in degenerative spinocerebellar disease: ataxia-specific improvements by intensive physiotherapy and exergames. 4
24877117 2014
12
SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome. 4
24176978 2013
13
Teaching neuroimages: hypomyelinating leukodystrophy with hypodontia due to POLR3B: look into a leukodystrophy's mouth. 4
24190003 2013
14
Autosomal recessive hereditary spastic paraplegia-clinical and genetic characteristics of a well-defined cohort. 4
23733235 2013
15
Videogame-based coordinative training can improve advanced, multisystemic early-onset ataxia. 4
23989345 2013
16
Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination. 4
23656588 2013
17
Neuropathy target esterase (NTE): overview and future. 4
23220002 2013
18
Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism. 4
23355746 2013
19
Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia. 4
23176821 2012
20
Video game-based coordinative training improves ataxia in children with degenerative ataxia. 4
23115212 2012
21
Motor neuron disease due to neuropathy target esterase gene mutation: clinical features of the index families. 4
21171093 2011
22
Long-term effects of coordinative training in degenerative cerebellar disease. 4
20737551 2010
23
Intensive coordinative training improves motor performance in degenerative cerebellar disease. 4
19864636 2009
24
Neuropathy target esterase gene mutations cause motor neuron disease. 4
18313024 2008
25
Neuropathy target esterase and its yeast homologue degrade phosphatidylcholine to glycerophosphocholine in living cells. 4
15044461 2004
26
Effects of intensive voice treatment (the Lee Silverman Voice Treatment [LSVT]) on ataxic dysarthria: a case study. 4
14658991 2003
27
Human neuropathy target esterase catalyzes hydrolysis of membrane lipids. 4
11927584 2002
28
Monomers of the catalytic domain of human neuropathy target esterase are active in the presence of phospholipid. 4
11742536 2002
29
Inhibition of Diabrotica Larval Growth by Patatin, the Lipid Acyl Hydrolase from Potato Tubers. 4
12228621 1995
30
Familial ataxia, hypogonadism and retinal degeneration. 4
5806782 1969
31
PNPLA6-Related Disorders 38
25299038 2014

Variations for Pnpla6-Related Disorders

ClinVar genetic disease variations for Pnpla6-Related Disorders:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PNPLA6 NM_006702.5(PNPLA6): c.2944_2947dup (p.Arg983fs) duplication Pathogenic rs606231167 19:7620614-7620617 19:7555728-7555731

Expression for Pnpla6-Related Disorders

Search GEO for disease gene expression data for Pnpla6-Related Disorders.

Pathways for Pnpla6-Related Disorders

Pathways related to Pnpla6-Related Disorders according to KEGG:

37
# Name Kegg Source Accession
1 Glycerophospholipid metabolism hsa00564

GO Terms for Pnpla6-Related Disorders

Sources for Pnpla6-Related Disorders

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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