MRT53
MCID: MNT270
MIFTS: 29

Mental Retardation, Autosomal Recessive 53 (MRT53)

Categories: Ear diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Mental Retardation, Autosomal Recessive 53

MalaCards integrated aliases for Mental Retardation, Autosomal Recessive 53:

Name: Mental Retardation, Autosomal Recessive 53 57 72 29 6
Glycosylphosphatidylinositol Biosynthesis Defect 13 57 72
Gpibd13 57 72
Mrt53 57 72
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome 58
Glycosylphosphatidylinositol Biosynthesis Defect 13; Gpibd13 57
Congenital Disorder of Glycosylation Due to Pigg Deficiency 58
Mental Retardation, Autosomal Recessive, Type 53 39
Pigg-Cdg 58

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
onset of seizures in first year of life
five patients from 3 unrelated families have been reported (last curated april 2016)


HPO:

31
mental retardation, autosomal recessive 53:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


Summaries for Mental Retardation, Autosomal Recessive 53

OMIM® : 57 Autosomal recessive mental retardation-53 is a neurodevelopmental disorder characterized by severely delayed psychomotor development, hypotonia apparent since infancy, and early-onset seizures in most patients. Some patients may have additional features, such as cerebellar hypoplasia and ataxia. MRT53 is one of a group of similar neurologic disorders resulting from biochemical defects in the glycosylphosphatidylinositol (GPI) biosynthetic pathway (summary by Makrythanasis et al., 2016). For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293). (616917) (Updated 05-Apr-2021)

MalaCards based summary : Mental Retardation, Autosomal Recessive 53, is also known as glycosylphosphatidylinositol biosynthesis defect 13. An important gene associated with Mental Retardation, Autosomal Recessive 53 is PIGG (Phosphatidylinositol Glycan Anchor Biosynthesis Class G). Affiliated tissues include brain, and related phenotypes are severe global developmental delay and hypotonia

UniProtKB/Swiss-Prot : 72 Mental retardation, autosomal recessive 53: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Most MRT53 patients manifest severely delayed psychomotor development, hypotonia, and early-onset seizures. Additional features, such as cerebellar hypoplasia and ataxia have been observed in some patients.

Related Diseases for Mental Retardation, Autosomal Recessive 53

Diseases in the Mental Retardation, Autosomal Dominant 7 family:

Mental Retardation, Autosomal Recessive 2 Mental Retardation, Autosomal Recessive 5
Mental Retardation, Autosomal Dominant 22 Mental Retardation, Autosomal Dominant 20
Mental Retardation, Autosomal Recessive 14 Mental Retardation, Autosomal Recessive 16
Mental Retardation, Autosomal Recessive 18 Mental Retardation, Autosomal Dominant 10
Mental Retardation, Autosomal Dominant 11 Mental Retardation, Autosomal Recessive 31
Mental Retardation, Autosomal Recessive 29 Mental Retardation, Autosomal Recessive 27
Mental Retardation, Autosomal Recessive 33 Mental Retardation, Autosomal Recessive 30
Mental Retardation, Autosomal Recessive 19 Mental Retardation, Autosomal Recessive 23
Mental Retardation, Autosomal Recessive 24 Mental Retardation, Autosomal Recessive 25
Mental Retardation, Autosomal Recessive 28 Mental Retardation, Autosomal Dominant 13
Mental Retardation, Autosomal Recessive 35 Mental Retardation, Autosomal Recessive 36
Mental Retardation, Autosomal Recessive 37 Mental Retardation, Autosomal Dominant 21
Mental Retardation, Autosomal Recessive 38 Mental Retardation, Autosomal Recessive 39
Mental Retardation, Autosomal Recessive 40 Mental Retardation, Autosomal Recessive 41
Mental Retardation, Autosomal Dominant 23 Mental Retardation, Autosomal Recessive 42
Mental Retardation, Autosomal Recessive 43 Mental Retardation, Autosomal Dominant 26
Mental Retardation, Autosomal Recessive 44 Mental Retardation, Autosomal Recessive 45
Mental Retardation, Autosomal Dominant 29 Mental Retardation, Autosomal Dominant 30
Mental Retardation, Autosomal Recessive 46 Mental Retardation, Autosomal Dominant 31
Mental Retardation, Autosomal Recessive 47 Mental Retardation, Autosomal Recessive 48
Mental Retardation, Autosomal Dominant 33 Mental Retardation, Autosomal Dominant 34
Mental Retardation, Autosomal Dominant 35 Mental Retardation, Autosomal Dominant 36
Mental Retardation, Autosomal Dominant 38 Mental Retardation, Autosomal Recessive 50
Mental Retardation, Autosomal Dominant 39 Mental Retardation, Autosomal Dominant 40
Mental Retardation, Autosomal Recessive 51 Mental Retardation, Autosomal Recessive 52
Mental Retardation, Autosomal Recessive 53 Mental Retardation, Autosomal Dominant 41
Mental Retardation, Autosomal Dominant 42 Mental Retardation, Autosomal Dominant 43
Mental Retardation, Autosomal Recessive 54 Mental Retardation, Autosomal Recessive 56
Mental Retardation, Autosomal Recessive 57 Mental Retardation, Autosomal Recessive 58
Mental Retardation, Autosomal Recessive 59 Mental Retardation, Autosomal Recessive 60
Mental Retardation, Autosomal Dominant 45 Mental Retardation, Autosomal Dominant 46
Mental Retardation, Autosomal Dominant 47 Mental Retardation, Autosomal Dominant 48
Mental Retardation, Autosomal Recessive 61 Mental Retardation, Autosomal Dominant 50
Mental Retardation, Autosomal Dominant 51 Mental Retardation, Autosomal Dominant 52
Mental Retardation, Autosomal Dominant 53 Mental Retardation, Autosomal Dominant 54
Mental Retardation, Autosomal Dominant 56 Mental Retardation, Autosomal Dominant 57
Mental Retardation, Autosomal Recessive 63 Mental Retardation, Autosomal Recessive 64
Mental Retardation, Autosomal Dominant 58 Mental Retardation, Autosomal Recessive 65
Mental Retardation, Autosomal Recessive 66 Autosomal Dominant Mental Retardation 55

Symptoms & Phenotypes for Mental Retardation, Autosomal Recessive 53

Human phenotypes related to Mental Retardation, Autosomal Recessive 53:

58 31 (show all 42)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 severe global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0011344
2 hypotonia 31 hallmark (90%) HP:0001252
3 abnormal facial shape 58 31 frequent (33%) Frequent (79-30%) HP:0001999
4 joint laxity 58 31 frequent (33%) Frequent (79-30%) HP:0001388
5 gait imbalance 58 31 frequent (33%) Frequent (79-30%) HP:0002141
6 hyporeflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001265
7 cerebellar hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0001321
8 gait ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002066
9 hypoplasia of the corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0002079
10 abnormality of lateral ventricle 58 31 frequent (33%) Frequent (79-30%) HP:0030047
11 delayed ability to walk 58 31 frequent (33%) Frequent (79-30%) HP:0031936
12 depressed nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0005280
13 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
14 pes planus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001763
15 absent speech 58 31 occasional (7.5%) Occasional (29-5%) HP:0001344
16 intrauterine growth retardation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001511
17 hypermobility of toe joints 58 31 occasional (7.5%) Occasional (29-5%) HP:0010510
18 thin upper lip vermilion 58 31 occasional (7.5%) Occasional (29-5%) HP:0000219
19 wide nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0000445
20 feeding difficulties 58 31 occasional (7.5%) Occasional (29-5%) HP:0011968
21 cerebellar atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001272
22 autistic behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0000729
23 hypermetropia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000540
24 drowsiness 58 31 occasional (7.5%) Occasional (29-5%) HP:0002329
25 muscle spasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0003394
26 pes valgus 58 31 occasional (7.5%) Occasional (29-5%) HP:0008081
27 hyperextensibility of the finger joints 58 31 occasional (7.5%) Occasional (29-5%) HP:0001187
28 eeg with focal spikes 58 31 occasional (7.5%) Occasional (29-5%) HP:0011193
29 severe demyelination of the white matter 58 31 occasional (7.5%) Occasional (29-5%) HP:0007258
30 bilateral tonic-clonic seizure 31 occasional (7.5%) HP:0002069
31 delayed speech and language development 58 31 Frequent (79-30%) HP:0000750
32 seizures 58 Very frequent (99-80%)
33 ataxia 31 HP:0001251
34 muscular hypotonia 58 Very frequent (99-80%)
35 global developmental delay 31 HP:0001263
36 growth delay 58 Frequent (79-30%)
37 severe muscular hypotonia 31 HP:0006829
38 generalized tonic-clonic seizures 58 Occasional (29-5%)
39 intellectual disability, profound 31 HP:0002187
40 cerebral atrophy 31 HP:0002059
41 generalized hypotonia 31 HP:0001290
42 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
delayed psychomotor development
poor or absent speech
ataxia (in 1 family)
thin corpus callosum (in family c)
more
Muscle Soft Tissue:
hypotonia, severe

Neurologic Peripheral Nervous System:
hyporeflexia

Growth Other:
poor growth (in some patients)
intrauterine growth retardation (in some patients)

Clinical features from OMIM®:

616917 (Updated 05-Apr-2021)

Drugs & Therapeutics for Mental Retardation, Autosomal Recessive 53

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Recessive 53

Genetic Tests for Mental Retardation, Autosomal Recessive 53

Genetic tests related to Mental Retardation, Autosomal Recessive 53:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Recessive 53 29 PIGG

Anatomical Context for Mental Retardation, Autosomal Recessive 53

MalaCards organs/tissues related to Mental Retardation, Autosomal Recessive 53:

40
Brain

Publications for Mental Retardation, Autosomal Recessive 53

Articles related to Mental Retardation, Autosomal Recessive 53:

# Title Authors PMID Year
1
Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia. 6 57
26996948 2016
2
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test. 6
28771251 2018
3
Reduced cell surface levels of GPI-linked markers in a new case with PIGG loss of function. 6
28581210 2017

Variations for Mental Retardation, Autosomal Recessive 53

ClinVar genetic disease variations for Mental Retardation, Autosomal Recessive 53:

6 (show top 50) (show all 270)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PIGG NM_001127178.3(PIGG):c.2261+1G>C SNV Pathogenic 225639 rs869320773 GRCh37: 4:521020-521020
GRCh38: 4:527231-527231
2 PIGG NM_001127178.3(PIGG):c.928C>T (p.Gln310Ter) SNV Pathogenic 225637 rs869320772 GRCh37: 4:509788-509788
GRCh38: 4:515999-515999
3 PIGG NM_001127178.3(PIGG):c.2569C>T (p.Gln857Ter) SNV Pathogenic 654965 rs1294683568 GRCh37: 4:524532-524532
GRCh38: 4:530743-530743
4 PIGG NM_001127178.3(PIGG):c.1489dup (p.Ser497fs) Duplication Pathogenic 661596 rs1577094794 GRCh37: 4:515603-515604
GRCh38: 4:521814-521815
5 PIGG NM_001127178.3(PIGG):c.1740_1743del (p.Phe580fs) Deletion Pathogenic 837041 GRCh37: 4:517370-517373
GRCh38: 4:523581-523584
6 PIGG NM_001127178.3(PIGG):c.366_381del (p.Leu122fs) Deletion Pathogenic 946332 GRCh37: 4:499510-499525
GRCh38: 4:505721-505736
7 PIGG NM_001127178.3(PIGG):c.910C>T (p.Arg304Ter) SNV Pathogenic 807654 rs752545577 GRCh37: 4:509770-509770
GRCh38: 4:515981-515981
8 PIGG NM_001127178.3(PIGG):c.498G>A (p.Trp166Ter) SNV Pathogenic 967701 GRCh37: 4:499644-499644
GRCh38: 4:505855-505855
9 PIGG NM_001127178.3(PIGG):c.1515G>A (p.Trp505Ter) SNV Pathogenic 476318 rs150259543 GRCh37: 4:515631-515631
GRCh38: 4:521842-521842
10 PIGG NM_001127178.3(PIGG):c.2872G>T (p.Glu958Ter) SNV Pathogenic 1033708 GRCh37: 4:533078-533078
GRCh38: 4:539289-539289
11 PIGG NM_001127178.3(PIGG):c.2624_2625del (p.Gly874_Leu875insTer) Deletion Pathogenic 646604 rs771819481 GRCh37: 4:527659-527660
GRCh38: 4:533870-533871
12 PIGG NM_001127178.3(PIGG):c.1106_1107del (p.Ser368_Tyr369insTer) Microsatellite Pathogenic 1033296 GRCh37: 4:509964-509965
GRCh38: 4:516175-516176
13 PIGG NM_001127178.3(PIGG):c.759+2T>C SNV Likely pathogenic 946419 GRCh37: 4:501384-501384
GRCh38: 4:507595-507595
14 PIGG NM_001127178.3(PIGG):c.1030A>C (p.Met344Leu) SNV Likely pathogenic 807655 rs757141700 GRCh37: 4:509890-509890
GRCh38: 4:516101-516101
15 PIGG NM_001127178.3(PIGG):c.724G>A (p.Val242Met) SNV Conflicting interpretations of pathogenicity 476351 rs144411585 GRCh37: 4:501347-501347
GRCh38: 4:507558-507558
16 PIGG NM_001127178.3(PIGG):c.422C>T (p.Ala141Val) SNV Conflicting interpretations of pathogenicity 476349 rs116772777 GRCh37: 4:499568-499568
GRCh38: 4:505779-505779
17 PIGG NM_001127178.3(PIGG):c.998G>A (p.Ser333Asn) SNV Conflicting interpretations of pathogenicity 542899 rs185712951 GRCh37: 4:509858-509858
GRCh38: 4:516069-516069
18 PIGG NM_001127178.3(PIGG):c.2053G>A (p.Gly685Ser) SNV Conflicting interpretations of pathogenicity 542901 rs200770933 GRCh37: 4:517686-517686
GRCh38: 4:523897-523897
19 PIGG NM_001127178.3(PIGG):c.2576A>G (p.Asn859Ser) SNV Uncertain significance 570517 rs745840866 GRCh37: 4:527611-527611
GRCh38: 4:533822-533822
20 PIGG NM_001127178.3(PIGG):c.712G>A (p.Glu238Lys) SNV Uncertain significance 575404 rs781997463 GRCh37: 4:501335-501335
GRCh38: 4:507546-507546
21 PIGG NM_001127178.3(PIGG):c.2131C>G (p.Leu711Val) SNV Uncertain significance 970213 GRCh37: 4:520889-520889
GRCh38: 4:527100-527100
22 PIGG NM_001127178.3(PIGG):c.416C>T (p.Ser139Phe) SNV Uncertain significance 940333 GRCh37: 4:499562-499562
GRCh38: 4:505773-505773
23 PIGG NM_001127178.3(PIGG):c.305C>A (p.Ser102Tyr) SNV Uncertain significance 1033709 GRCh37: 4:494335-494335
GRCh38: 4:500546-500546
24 PIGG NM_001127178.3(PIGG):c.908T>C (p.Ile303Thr) SNV Uncertain significance 1033710 GRCh37: 4:509768-509768
GRCh38: 4:515979-515979
25 PIGG NM_001127178.3(PIGG):c.1585G>A (p.Val529Met) SNV Uncertain significance 1035232 GRCh37: 4:515701-515701
GRCh38: 4:521912-521912
26 PIGG NM_001127178.3(PIGG):c.337A>G (p.Thr113Ala) SNV Uncertain significance 1035933 GRCh37: 4:494367-494367
GRCh38: 4:500578-500578
27 PIGG NM_001127178.3(PIGG):c.1040A>T (p.Gln347Leu) SNV Uncertain significance 1036163 GRCh37: 4:509900-509900
GRCh38: 4:516111-516111
28 PIGG NM_001127178.3(PIGG):c.486A>T (p.Gly162=) SNV Uncertain significance 1038825 GRCh37: 4:499632-499632
GRCh38: 4:505843-505843
29 PIGG and overlap with 1 gene(s) NC_000004.11:g.(?_493125)_(499726_?)dup Duplication Uncertain significance 1040012 GRCh37: 4:493125-499726
GRCh38:
30 PIGG NM_001127178.3(PIGG):c.763A>G (p.Arg255Gly) SNV Uncertain significance 1040932 GRCh37: 4:502621-502621
GRCh38: 4:508832-508832
31 PIGG NM_001127178.3(PIGG):c.2236C>G (p.Arg746Gly) SNV Uncertain significance 1042766 GRCh37: 4:520994-520994
GRCh38: 4:527205-527205
32 PIGG NM_001127178.3(PIGG):c.149C>T (p.Ser50Leu) SNV Uncertain significance 1044736 GRCh37: 4:493273-493273
GRCh38: 4:499484-499484
33 PIGG NM_001127178.3(PIGG):c.1049T>C (p.Phe350Ser) SNV Uncertain significance 1046739 GRCh37: 4:509909-509909
GRCh38: 4:516120-516120
34 PIGG NM_001127178.3(PIGG):c.2088G>C (p.Glu696Asp) SNV Uncertain significance 1047173 GRCh37: 4:520846-520846
GRCh38: 4:527057-527057
35 PIGG NM_001127178.3(PIGG):c.2240C>T (p.Pro747Leu) SNV Uncertain significance 1033297 GRCh37: 4:520998-520998
GRCh38: 4:527209-527209
36 PIGG NM_001127178.3(PIGG):c.23T>C (p.Phe8Ser) SNV Uncertain significance 1033298 GRCh37: 4:493147-493147
GRCh38: 4:499358-499358
37 PIGG NM_001127178.3(PIGG):c.589A>G (p.Arg197Gly) SNV Uncertain significance 1027681 GRCh37: 4:501212-501212
GRCh38: 4:507423-507423
38 PIGG NM_001127178.3(PIGG):c.1428T>C (p.Phe476=) SNV Uncertain significance 759571 rs766083746 GRCh37: 4:515544-515544
GRCh38: 4:521755-521755
39 PIGG NM_001127178.3(PIGG):c.2540A>G (p.Tyr847Cys) SNV Uncertain significance 947983 GRCh37: 4:524503-524503
GRCh38: 4:530714-530714
40 PIGG NM_001127178.3(PIGG):c.1455C>A (p.Ala485=) SNV Uncertain significance 949411 GRCh37: 4:515571-515571
GRCh38: 4:521782-521782
41 PIGG NM_001127178.3(PIGG):c.2621G>T (p.Gly874Val) SNV Uncertain significance 949920 GRCh37: 4:527656-527656
GRCh38: 4:533867-533867
42 PIGG NM_001127178.3(PIGG):c.1221G>T (p.Lys407Asn) SNV Uncertain significance 956023 GRCh37: 4:514951-514951
GRCh38: 4:521162-521162
43 PIGG NM_001127178.3(PIGG):c.1573G>C (p.Val525Leu) SNV Uncertain significance 956484 GRCh37: 4:515689-515689
GRCh38: 4:521900-521900
44 PIGG NM_001127178.3(PIGG):c.565A>C (p.Thr189Pro) SNV Uncertain significance 837042 GRCh37: 4:499711-499711
GRCh38: 4:505922-505922
45 PIGG NM_001127178.3(PIGG):c.2344G>A (p.Val782Ile) SNV Uncertain significance 838389 GRCh37: 4:524307-524307
GRCh38: 4:530518-530518
46 PIGG NM_001127178.3(PIGG):c.2041C>T (p.Arg681Trp) SNV Uncertain significance 840107 GRCh37: 4:517674-517674
GRCh38: 4:523885-523885
47 PIGG NM_001127178.3(PIGG):c.2571+5G>A SNV Uncertain significance 845405 GRCh37: 4:524539-524539
GRCh38: 4:530750-530750
48 PIGG NM_001127178.3(PIGG):c.1614+6T>G SNV Uncertain significance 846047 GRCh37: 4:515736-515736
GRCh38: 4:521947-521947
49 PIGG NM_001127178.3(PIGG):c.1622T>C (p.Met541Thr) SNV Uncertain significance 862221 GRCh37: 4:517255-517255
GRCh38: 4:523466-523466
50 PIGG NM_001127178.3(PIGG):c.679C>G (p.Pro227Ala) SNV Uncertain significance 864075 GRCh37: 4:501302-501302
GRCh38: 4:507513-507513

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, Autosomal Recessive 53:

72
# Symbol AA change Variation ID SNP ID
1 PIGG p.Arg669Cys VAR_076775 rs372392424

Expression for Mental Retardation, Autosomal Recessive 53

Search GEO for disease gene expression data for Mental Retardation, Autosomal Recessive 53.

Pathways for Mental Retardation, Autosomal Recessive 53

GO Terms for Mental Retardation, Autosomal Recessive 53

Sources for Mental Retardation, Autosomal Recessive 53

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
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