KEGG DISEASE: Inherited glycosylphosphatidylinositol deficiencies

DISEASE: Inherited glycosylphosphatidylinositol deficiencies

Entry

H01489                      Disease

Name

Inherited glycosylphosphatidylinositol deficiencies;
Glycosylphosphatidylinositol biosynthesis deficiency

Subgroup

Metachromatic leukodystrophy [DS:H01127]
Autosomal recessive mental retardation-42 [DS:H01485]
Multiple congenital anomalies-hypotonia-seizures syndrome [DS:H01486]
CHIME syndrome [DS:H01487]
Hyperphosphatasia with mental retardation syndrome [DS:H01488]

Description

Inherited glycosylphosphatidylinositol biosynthesis deficiency (GPIBD) is a group of glycosylation disorders, which result from mutation in genes involved in the biosynthesis of GPI anchors. Mutations in several genes have been identified, mostly related to autosomal recessive. Clinical phenotypes are variable, often include developmental delay, hyperphosphatasia, (neonatal) seizures, hypotonia, neurological symptoms, growth abnormalities, and congenital abnormalities.

Category

Inherited metabolic disorder

Brite

Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C54  Inborn errors of glycosylation or other specified protein modification
     H01489  Inherited glycosylphosphatidylinositol deficiencies
Pathway-based classification of diseases [BR:br08402]
Glycan/glycoprotein metabolism
  nt06018  GPI-anchor biosynthesis
   H01489  Inherited glycosylphosphatidylinositol deficiencies

Pathway

hsa00563

Glycosylphosphatidylinositol (GPI)-anchor biosynthesis

Network

nt06018 GPI-anchor biosynthesis

Gene

(GPIBD1) PIGM [HSA:93183] [KO:K05284]
(GPIBD2) PIGV [HSA:55650] [KO:K07542]
(GPIBD3) PIGN [HSA:23556] [KO:K05285]
(GPIBD4) PIGA [HSA:5277] [KO:K03857]
(GPIBD5) PIGL [HSA:9487] [KO:K03434]
(GPIBD6) PIGO [HSA:84720] [KO:K05288]
(GPIBD7) PIGT [HSA:51604] [KO:K05292]
(GPIBD8) PGAP2 [HSA:27315] [KO:K23552]
(GPIBD9) PGAP1 [HSA:80055] [KO:K05294]
(GPIBD10) PGAP3 [HSA:93210] [KO:K23553]
(GPIBD11) PIGW [HSA:284098] [KO:K05283]
(GPIBD12) PIGY [HSA:84992] [KO:K11001]
(GPIBD13) PIGG [HSA:54872] [KO:K05310]
(GPIBD14) PIGP [HSA:51227] [KO:K03861]
(GPIBD15) GPAA1 [HSA:8733] [KO:K05289]
(GPIBD16) PIGC [HSA:5279] [KO:K03859]
(GPIBD17) PIGH [HSA:5283] [KO:K03858]
(GPIBD18) PIGS [HSA:94005] [KO:K05291]
(GPIBD19) PIGQ [HSA:9091] [KO:K03860]
(GPIBD20) PIGB [HSA:9488] [KO:K05286]
(GPIBD21) PIGU [HSA:128869] [KO:K05293]
(GPIBD22) PIGK [HSA:10026] [KO:K05290]
(GPIBD25) C18orf32 [HSA:497661]

Other DBs

ICD-11:

5C54.Y

OMIM:

610293 239300 614080 300868 280000 614749 615398 614207 615802 615716 616025 616809 616917 617599 617810 617816 618010 618143 618548 618580 618590 618879 619985

Reference

PMID:26879448 (PIGN, PGAP2)

Authors

Jezela-Stanek A, Ciara E, Piekutowska-Abramczuk D, Trubicka J, Jurkiewicz E, Rokicki D, Mierzewska H, Spychalska J, Uhrynowska M, Szwarc-Bronikowska M, Buda P, Said AR, Jamroz E, Rydzanicz M, Ploski R, Krajewska-Walasek M, Pronicka E

Title

Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes.

Journal

Eur J Paediatr Neurol 20:462-73 (2016)
DOI:10.1016/j.ejpn.2016.01.007

Reference

PMID:24727937 (PIGA, PIGH, PIGC, PIGQ, PIGP, PIGY, PIGW, PIGL, PIGM, PIGV, PIGO, PIGT)

Authors

Kinoshita T

Title

Biosynthesis and deficiencies of glycosylphosphatidylinositol.

Journal

Proc Jpn Acad Ser B Phys Biol Sci 90:130-43 (2014)
DOI:10.2183/pjab.90.130

Reference

PMID:24784135 (PGAP1)

Authors

Murakami Y, Tawamie H, Maeda Y, Buttner C, Buchert R, Radwan F, Schaffer S, Sticht H, Aigner M, Reis A, Kinoshita T, Jamra RA

Title

Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy.

Journal

PLoS Genet 10:e1004320 (2014)
DOI:10.1371/journal.pgen.1004320

Reference

PMID:28334793 (PIGP)

Authors

Johnstone DL, Nguyen TT, Murakami Y, Kernohan KD, Tetreault M, Goldsmith C, Doja A, Wagner JD, Huang L, Hartley T, St-Denis A, le Deist F, Majewski J, Bulman DE, Kinoshita T, Dyment DA, Boycott KM, Campeau PM

Title

Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy.

Journal

Hum Mol Genet 26:1706-1715 (2017)
DOI:10.1093/hmg/ddx077

Reference

PMID:29100095 (GPAA1)

Authors

Nguyen TTM, Murakami Y, Sheridan E, Ehresmann S, Rousseau J, St-Denis A, Chai G, Ajeawung NF, Fairbrother L, Reimschisel T, Bateman A, Berry-Kravis E, Xia F, Tardif J, Parry DA, Logan CV, Diggle C, Bennett CP, Hattingh L, Rosenfeld JA, Perry MS, Parker MJ, Le Deist F, Zaki MS, Ignatius E, Isohanni P, Lonnqvist T, Carroll CJ, Johnson CA, Gleeson JG, Kinoshita T, Campeau PM

Title

Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia.

Journal

Am J Hum Genet 101:856-865 (2017)
DOI:10.1016/j.ajhg.2017.09.020

Reference

PMID:27694521 (PIGC)

Authors

Edvardson S, Murakami Y, Nguyen TT, Shahrour M, St-Denis A, Shaag A, Damseh N, Le Deist F, Bryceson Y, Abu-Libdeh B, Campeau PM, Kinoshita T, Elpeleg O

Title

Mutations in the phosphatidylinositol glycan C (PIGC) gene are associated with epilepsy and intellectual disability.

Journal

J Med Genet 54:196-201 (2017)
DOI:10.1136/jmedgenet-2016-104202

Reference

PMID:29573052 (PIGH)

Authors

Pagnamenta AT, Murakami Y, Anzilotti C, Titheradge H, Oates AJ, Morton J, Kinoshita T, Kini U, Taylor JC

Title

A homozygous variant disrupting the PIGH start-codon is associated with developmental delay, epilepsy, and microcephaly.

Journal

Hum Mutat 39:822-826 (2018)
DOI:10.1002/humu.23420

Reference

PMID:30269814 (PIGS)

Authors

Nguyen TTM, Murakami Y, Wigby KM, Baratang NV, Rousseau J, St-Denis A, Rosenfeld JA, Laniewski SC, Jones J, Iglesias AD, Jones MC, Masser-Frye D, Scheuerle AE, Perry DL, Taft RJ, Le Deist F, Thompson M, Kinoshita T, Campeau PM

Title

Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy.

Journal

Am J Hum Genet 103:602-611 (2018)
DOI:10.1016/j.ajhg.2018.08.014

Reference

PMID:31256876 (PIGB)

Authors

Murakami Y, Nguyen TTM, Baratang N, Raju PK, Knaus A, Ellard S, Jones G, Lace B, Rousseau J, Ajeawung NF, Kamei A, Minase G, Akasaka M, Araya N, Koshimizu E, van den Ende J, Erger F, Altmuller J, Krumina Z, Strautmanis J, Inashkina I, Stavusis J, El-Gharbawy A, Sebastian J, Puri RD, Kulshrestha S, Verma IC, Maier EM, Haack TB, Israni A, Baptista J, Gunning A, Rosenfeld JA, Liu P, Joosten M, Rocha ME, Hashem MO, Aldhalaan HM, Alkuraya FS, Miyatake S, Matsumoto N, Krawitz PM, Rossignol E, Kinoshita T, Campeau PM

Title

Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.

Journal

Am J Hum Genet 105:384-394 (2019)
DOI:10.1016/j.ajhg.2019.05.019

Reference

PMID:31353022 (PIGU)

Authors

Knaus A, Kortum F, Kleefstra T, Stray-Pedersen A, Dukic D, Murakami Y, Gerstner T, van Bokhoven H, Iqbal Z, Horn D, Kinoshita T, Hempel M, Krawitz PM

Title

Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies.

Journal

Am J Hum Genet 105:395-402 (2019)
DOI:10.1016/j.ajhg.2019.06.009

Reference

PMID:32220290 (PIGK)

Authors

Nguyen TTM, Murakami Y, Mobilio S, Niceta M, Zampino G, Philippe C, Moutton S, Zaki MS, James KN, Musaev D, Mu W, Baranano K, Nance JR, Rosenfeld JA, Braverman N, Ciolfi A, Millan F, Person RE, Bruel AL, Thauvin-Robinet C, Ververi A, DeVile C, Male A, Efthymiou S, Maroofian R, Houlden H, Maqbool S, Rahman F, Baratang NV, Rousseau J, St-Denis A, Elrick MJ, Anselm I, Rodan LH, Tartaglia M, Gleeson J, Kinoshita T, Campeau PM

Title

Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy.

Journal

Am J Hum Genet 106:484-495 (2020)
DOI:10.1016/j.ajhg.2020.03.001

Reference

PMID:35107634 (C18orf32)

Authors

Salian S, Guo XY, Murakami Y, Kinoshita T, Kaur P, Shukla A, Girisha KM, Fujita M, Campeau PM

Title

C18orf32 loss-of-function is associated with a neurodevelopmental disorder with hypotonia and contractures.

Journal

Hum Genet 141:1423-1429 (2022)
DOI:10.1007/s00439-022-02433-0

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