MCID: MNT270
MIFTS: 25

Mental Retardation, Autosomal Recessive 53

Categories: Genetic diseases, Neuronal diseases, Metabolic diseases, Rare diseases, Mental diseases, Fetal diseases, Eye diseases, Cardiovascular diseases, Bone diseases, Skin diseases, Gastrointestinal 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 75 29 6
Glycosylphosphatidylinositol Biosynthesis Defect 13 57 75
Gpibd13 57 75
Mrt53 57 75
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome 59
Glycosylphosphatidylinositol Biosynthesis Defect 13; Gpibd13 57
Congenital Disorder of Glycosylation Due to Pigg Deficiency 59
Mental Retardation, Autosomal Recessive, Type 53 ) 40
Pigg-Cdg 59

Characteristics:

OMIM:

57
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:

32
mental retardation, autosomal recessive 53:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



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)

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 delayed speech and language development and seizures

UniProtKB/Swiss-Prot : 75 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 20 family:

Mental Retardation, Autosomal Recessive 2 Mental Retardation, Autosomal Recessive 5
Mental Retardation, Autosomal Dominant 22 Mental Retardation, Autosomal Recessive 14
Mental Retardation, Autosomal Dominant 7 Mental Retardation, Autosomal Recessive 15
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 Dominant 18
Mental Retardation, Autosomal Dominant 19 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 24 Mental Retardation, Autosomal Dominant 26
Mental Retardation, Autosomal Dominant 27 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 Dominant 32 Mental Retardation, Autosomal Recessive 48
Mental Retardation, Autosomal Recessive 49 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 55 Mental Retardation, Autosomal Dominant 44
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 Dominant 49
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 Autosomal Dominant Mental Retardation 55
Autosomal Dominant Mental Retardation 61

Symptoms & Phenotypes for Mental Retardation, Autosomal Recessive 53

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Mental Retardation, Autosomal Recessive 53:

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 delayed speech and language development 32 HP:0000750
2 seizures 32 HP:0001250
3 ataxia 32 HP:0001251
4 global developmental delay 32 HP:0001263
5 hyporeflexia 32 HP:0001265
6 generalized hypotonia 32 HP:0001290
7 cerebellar hypoplasia 32 HP:0001321
8 intrauterine growth retardation 32 HP:0001511
9 cerebral atrophy 32 HP:0002059
10 hypoplasia of the corpus callosum 32 HP:0002079
11 intellectual disability, profound 32 HP:0002187
12 severe muscular hypotonia 32 HP:0006829
13 eeg with focal spikes 32 HP:0011193

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:

41
Brain

Publications for Mental Retardation, Autosomal Recessive 53

Variations for Mental Retardation, Autosomal Recessive 53

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

75
# Symbol AA change Variation ID SNP ID
1 PIGG p.Arg669Cys VAR_076775 rs372392424

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

6
(show top 50) (show all 176)
# Gene Variation Type Significance SNP ID Assembly Location
1 PIGG NM_001127178.2(PIGG): c.928C> T (p.Gln310Ter) single nucleotide variant Pathogenic rs869320772 GRCh37 Chromosome 4, 509788: 509788
2 PIGG NM_001127178.2(PIGG): c.928C> T (p.Gln310Ter) single nucleotide variant Pathogenic rs869320772 GRCh38 Chromosome 4, 515999: 515999
3 PIGG NM_001127178.2(PIGG): c.2005C> T (p.Arg669Cys) single nucleotide variant Pathogenic rs372392424 GRCh37 Chromosome 4, 517638: 517638
4 PIGG NM_001127178.2(PIGG): c.2005C> T (p.Arg669Cys) single nucleotide variant Pathogenic rs372392424 GRCh38 Chromosome 4, 523849: 523849
5 PIGG NM_001127178.2(PIGG): c.2261+1G> C single nucleotide variant Pathogenic rs869320773 GRCh38 Chromosome 4, 527231: 527231
6 PIGG NM_001127178.2(PIGG): c.2261+1G> C single nucleotide variant Pathogenic rs869320773 GRCh37 Chromosome 4, 521020: 521020
7 PIGG NM_001127178.2(PIGG): c.158C> A (p.Ala53Asp) single nucleotide variant Benign/Likely benign rs28454778 GRCh37 Chromosome 4, 494188: 494188
8 PIGG NM_001127178.2(PIGG): c.158C> A (p.Ala53Asp) single nucleotide variant Benign/Likely benign rs28454778 GRCh38 Chromosome 4, 500399: 500399
9 PIGG NM_001127178.2(PIGG): c.1967C> T (p.Ala656Val) single nucleotide variant Benign rs61749092 GRCh37 Chromosome 4, 517600: 517600
10 PIGG NM_001127178.2(PIGG): c.1967C> T (p.Ala656Val) single nucleotide variant Benign rs61749092 GRCh38 Chromosome 4, 523811: 523811
11 PIGG NM_001127178.2(PIGG): c.164C> A (p.Ser55Tyr) single nucleotide variant Benign/Likely benign rs34120878 GRCh37 Chromosome 4, 494194: 494194
12 PIGG NM_001127178.2(PIGG): c.164C> A (p.Ser55Tyr) single nucleotide variant Benign/Likely benign rs34120878 GRCh38 Chromosome 4, 500405: 500405
13 PIGG NM_001127178.2(PIGG): c.1114+9A> G single nucleotide variant Benign rs150974506 GRCh37 Chromosome 4, 509983: 509983
14 PIGG NM_001127178.2(PIGG): c.1114+9A> G single nucleotide variant Benign rs150974506 GRCh38 Chromosome 4, 516194: 516194
15 PIGG NM_001127178.2(PIGG): c.2069+9G> T single nucleotide variant Benign rs149305291 GRCh37 Chromosome 4, 517711: 517711
16 PIGG NM_001127178.2(PIGG): c.2069+9G> T single nucleotide variant Benign rs149305291 GRCh38 Chromosome 4, 523922: 523922
17 PIGG NM_001127178.2(PIGG): c.2670G> A (p.Gly890=) single nucleotide variant Likely benign GRCh37 Chromosome 4, 527705: 527705
18 PIGG NM_001127178.2(PIGG): c.244T> C (p.Phe82Leu) single nucleotide variant Uncertain significance rs551114887 GRCh37 Chromosome 4, 494274: 494274
19 PIGG NM_001127178.2(PIGG): c.244T> C (p.Phe82Leu) single nucleotide variant Uncertain significance rs551114887 GRCh38 Chromosome 4, 500485: 500485
20 PIGG NM_001127178.2(PIGG): c.371C> A (p.Thr124Lys) single nucleotide variant Uncertain significance rs370385328 GRCh37 Chromosome 4, 499517: 499517
21 PIGG NM_001127178.2(PIGG): c.371C> A (p.Thr124Lys) single nucleotide variant Uncertain significance rs370385328 GRCh38 Chromosome 4, 505728: 505728
22 PIGG NM_001127178.2(PIGG): c.826A> G (p.Ser276Gly) single nucleotide variant Uncertain significance rs373951989 GRCh37 Chromosome 4, 502684: 502684
23 PIGG NM_001127178.2(PIGG): c.826A> G (p.Ser276Gly) single nucleotide variant Uncertain significance rs373951989 GRCh38 Chromosome 4, 508895: 508895
24 PIGG NM_001127178.2(PIGG): c.885G> A (p.Ala295=) single nucleotide variant Likely benign rs189449890 GRCh38 Chromosome 4, 508954: 508954
25 PIGG NM_001127178.2(PIGG): c.885G> A (p.Ala295=) single nucleotide variant Likely benign rs189449890 GRCh37 Chromosome 4, 502743: 502743
26 PIGG NM_001127178.2(PIGG): c.901+10T> G single nucleotide variant Likely benign rs782012518 GRCh38 Chromosome 4, 508980: 508980
27 PIGG NM_001127178.2(PIGG): c.901+10T> G single nucleotide variant Likely benign rs782012518 GRCh37 Chromosome 4, 502769: 502769
28 PIGG NM_001127178.2(PIGG): c.1045A> G (p.Arg349Gly) single nucleotide variant Uncertain significance rs746477290 GRCh38 Chromosome 4, 516116: 516116
29 PIGG NM_001127178.2(PIGG): c.1045A> G (p.Arg349Gly) single nucleotide variant Uncertain significance rs746477290 GRCh37 Chromosome 4, 509905: 509905
30 PIGG NM_001127178.2(PIGG): c.1387C> G (p.Leu463Val) single nucleotide variant Likely benign rs115766555 GRCh38 Chromosome 4, 521714: 521714
31 PIGG NM_001127178.2(PIGG): c.1387C> G (p.Leu463Val) single nucleotide variant Likely benign rs115766555 GRCh37 Chromosome 4, 515503: 515503
32 PIGG NM_001127178.2(PIGG): c.1451C> T (p.Ser484Leu) single nucleotide variant Likely benign rs140156216 GRCh37 Chromosome 4, 515567: 515567
33 PIGG NM_001127178.2(PIGG): c.1451C> T (p.Ser484Leu) single nucleotide variant Likely benign rs140156216 GRCh38 Chromosome 4, 521778: 521778
34 PIGG NM_001127178.2(PIGG): c.2150C> A (p.Ser717Tyr) single nucleotide variant Benign rs117059276 GRCh38 Chromosome 4, 527119: 527119
35 PIGG NM_001127178.2(PIGG): c.2150C> A (p.Ser717Tyr) single nucleotide variant Benign rs117059276 GRCh37 Chromosome 4, 520908: 520908
36 PIGG NM_001127178.2(PIGG): c.2207C> T (p.Ala736Val) single nucleotide variant Uncertain significance rs745563663 GRCh37 Chromosome 4, 520965: 520965
37 PIGG NM_001127178.2(PIGG): c.2207C> T (p.Ala736Val) single nucleotide variant Uncertain significance rs745563663 GRCh38 Chromosome 4, 527176: 527176
38 PIGG NM_001127178.2(PIGG): c.2670G> A (p.Gly890=) single nucleotide variant Likely benign GRCh38 Chromosome 4, 533916: 533916
39 PIGG NM_001127178.2(PIGG): c.2769C> T (p.Tyr923=) single nucleotide variant Benign rs148579497 GRCh38 Chromosome 4, 539186: 539186
40 PIGG NM_001127178.2(PIGG): c.2769C> T (p.Tyr923=) single nucleotide variant Benign rs148579497 GRCh37 Chromosome 4, 532975: 532975
41 PIGG NM_001127178.2(PIGG): c.2798C> T (p.Thr933Met) single nucleotide variant Uncertain significance rs372561507 GRCh38 Chromosome 4, 539215: 539215
42 PIGG NM_001127178.2(PIGG): c.2798C> T (p.Thr933Met) single nucleotide variant Uncertain significance rs372561507 GRCh37 Chromosome 4, 533004: 533004
43 PIGG NM_001127178.2(PIGG): c.2799G> A (p.Thr933=) single nucleotide variant Likely benign rs564939051 GRCh38 Chromosome 4, 539216: 539216
44 PIGG NM_001127178.2(PIGG): c.2799G> A (p.Thr933=) single nucleotide variant Likely benign rs564939051 GRCh37 Chromosome 4, 533005: 533005
45 PIGG NM_001127178.2(PIGG): c.2824C> T (p.Arg942Cys) single nucleotide variant Uncertain significance rs532389677 GRCh38 Chromosome 4, 539241: 539241
46 PIGG NM_001127178.2(PIGG): c.2824C> T (p.Arg942Cys) single nucleotide variant Uncertain significance rs532389677 GRCh37 Chromosome 4, 533030: 533030
47 PIGG NM_001127178.2(PIGG): c.371C> T (p.Thr124Met) single nucleotide variant Uncertain significance rs370385328 GRCh38 Chromosome 4, 505728: 505728
48 PIGG NM_001127178.2(PIGG): c.371C> T (p.Thr124Met) single nucleotide variant Uncertain significance rs370385328 GRCh37 Chromosome 4, 499517: 499517
49 PIGG NM_001127178.2(PIGG): c.372G> A (p.Thr124=) single nucleotide variant Uncertain significance rs559827237 GRCh38 Chromosome 4, 505729: 505729
50 PIGG NM_001127178.2(PIGG): c.372G> A (p.Thr124=) single nucleotide variant Uncertain significance rs559827237 GRCh37 Chromosome 4, 499518: 499518

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

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