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Glycosylphosphatidylinositol biosynthesis defect 16(MRT62; GPIBD16)

MedGen UID:
1628197
Concept ID:
C4540521
Disease or Syndrome
Synonym: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 62
 
Gene (location): PIGC (1q24.3)
 
Monarch Initiative: MONDO:0040500
OMIM®: 617816

Clinical features

From HPO
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Delayed ability to walk
MedGen UID:
66034
Concept ID:
C0241726
Finding
A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Poor speech
MedGen UID:
341172
Concept ID:
C1848207
Finding
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Elevated circulating alkaline phosphatase concentration
MedGen UID:
727252
Concept ID:
C1314665
Finding
Abnormally increased serum levels of alkaline phosphatase activity.

Recent clinical studies

Etiology

Kang M, Wu M, Crane JL
Bone 2023 Jul;172:116778. Epub 2023 Apr 21 doi: 10.1016/j.bone.2023.116778. PMID: 37088336Free PMC Article
Knaus A, Pantel JT, Pendziwiat M, Hajjir N, Zhao M, Hsieh TC, Schubach M, Gurovich Y, Fleischer N, Jäger M, Köhler S, Muhle H, Korff C, Møller RS, Bayat A, Calvas P, Chassaing N, Warren H, Skinner S, Louie R, Evers C, Bohn M, Christen HJ, van den Born M, Obersztyn E, Charzewska A, Endziniene M, Kortüm F, Brown N, Robinson PN, Schelhaas HJ, Weber Y, Helbig I, Mundlos S, Horn D, Krawitz PM
Genome Med 2018 Jan 9;10(1):3. doi: 10.1186/s13073-017-0510-5. PMID: 29310717Free PMC Article
Horn D, Wieczorek D, Metcalfe K, Barić I, Paležac L, Cuk M, Petković Ramadža D, Krüger U, Demuth S, Heinritz W, Linden T, Koenig J, Robinson PN, Krawitz P
Eur J Hum Genet 2014 Jun;22(6):762-7. Epub 2013 Oct 16 doi: 10.1038/ejhg.2013.241. PMID: 24129430Free PMC Article
Ohashi M, Eagle RA, Trowsdale J
J Biol Chem 2010 May 28;285(22):16408-15. Epub 2010 Mar 19 doi: 10.1074/jbc.M109.077636. PMID: 20304922Free PMC Article
Bacigalupo A, Bruno B, Saracco P, Di Bona E, Locasciulli A, Locatelli F, Gabbas A, Dufour C, Arcese W, Testi G, Broccia G, Carotenuto M, Coser P, Barbui T, Leoni P, Ferster A
Blood 2000 Mar 15;95(6):1931-4. PMID: 10706857

Diagnosis

Horn D, Wieczorek D, Metcalfe K, Barić I, Paležac L, Cuk M, Petković Ramadža D, Krüger U, Demuth S, Heinritz W, Linden T, Koenig J, Robinson PN, Krawitz P
Eur J Hum Genet 2014 Jun;22(6):762-7. Epub 2013 Oct 16 doi: 10.1038/ejhg.2013.241. PMID: 24129430Free PMC Article
Hillmen P, Bessler M, Mason PJ, Watkins WM, Luzzatto L
Proc Natl Acad Sci U S A 1993 Jun 1;90(11):5272-6. doi: 10.1073/pnas.90.11.5272. PMID: 8389477Free PMC Article
van der Schoot CE, Huizinga TW, van 't Veer-Korthof ET, Wijmans R, Pinkster J, von dem Borne AE
Blood 1990 Nov 1;76(9):1853-9. PMID: 2145990

Therapy

Kang M, Wu M, Crane JL
Bone 2023 Jul;172:116778. Epub 2023 Apr 21 doi: 10.1016/j.bone.2023.116778. PMID: 37088336Free PMC Article
Bacigalupo A, Bruno B, Saracco P, Di Bona E, Locasciulli A, Locatelli F, Gabbas A, Dufour C, Arcese W, Testi G, Broccia G, Carotenuto M, Coser P, Barbui T, Leoni P, Ferster A
Blood 2000 Mar 15;95(6):1931-4. PMID: 10706857

Prognosis

Knaus A, Pantel JT, Pendziwiat M, Hajjir N, Zhao M, Hsieh TC, Schubach M, Gurovich Y, Fleischer N, Jäger M, Köhler S, Muhle H, Korff C, Møller RS, Bayat A, Calvas P, Chassaing N, Warren H, Skinner S, Louie R, Evers C, Bohn M, Christen HJ, van den Born M, Obersztyn E, Charzewska A, Endziniene M, Kortüm F, Brown N, Robinson PN, Schelhaas HJ, Weber Y, Helbig I, Mundlos S, Horn D, Krawitz PM
Genome Med 2018 Jan 9;10(1):3. doi: 10.1186/s13073-017-0510-5. PMID: 29310717Free PMC Article
Ohashi M, Eagle RA, Trowsdale J
J Biol Chem 2010 May 28;285(22):16408-15. Epub 2010 Mar 19 doi: 10.1074/jbc.M109.077636. PMID: 20304922Free PMC Article
Bacigalupo A, Bruno B, Saracco P, Di Bona E, Locasciulli A, Locatelli F, Gabbas A, Dufour C, Arcese W, Testi G, Broccia G, Carotenuto M, Coser P, Barbui T, Leoni P, Ferster A
Blood 2000 Mar 15;95(6):1931-4. PMID: 10706857
Schrezenmeier H, Hildebrand A, Rojewski M, Häcker H, Heimpel H, Raghavachar A
Acta Haematol 2000;103(1):41-8. doi: 10.1159/000041003. PMID: 10705158

Clinical prediction guides

Knaus A, Pantel JT, Pendziwiat M, Hajjir N, Zhao M, Hsieh TC, Schubach M, Gurovich Y, Fleischer N, Jäger M, Köhler S, Muhle H, Korff C, Møller RS, Bayat A, Calvas P, Chassaing N, Warren H, Skinner S, Louie R, Evers C, Bohn M, Christen HJ, van den Born M, Obersztyn E, Charzewska A, Endziniene M, Kortüm F, Brown N, Robinson PN, Schelhaas HJ, Weber Y, Helbig I, Mundlos S, Horn D, Krawitz PM
Genome Med 2018 Jan 9;10(1):3. doi: 10.1186/s13073-017-0510-5. PMID: 29310717Free PMC Article
Ohashi M, Eagle RA, Trowsdale J
J Biol Chem 2010 May 28;285(22):16408-15. Epub 2010 Mar 19 doi: 10.1074/jbc.M109.077636. PMID: 20304922Free PMC Article
Schrezenmeier H, Hildebrand A, Rojewski M, Häcker H, Heimpel H, Raghavachar A
Acta Haematol 2000;103(1):41-8. doi: 10.1159/000041003. PMID: 10705158
Hillmen P, Bessler M, Mason PJ, Watkins WM, Luzzatto L
Proc Natl Acad Sci U S A 1993 Jun 1;90(11):5272-6. doi: 10.1073/pnas.90.11.5272. PMID: 8389477Free PMC Article

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