MRT42
MCID: MNT210
MIFTS: 27

Mental Retardation, Autosomal Recessive 42 (MRT42)

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 42

MalaCards integrated aliases for Mental Retardation, Autosomal Recessive 42:

Name: Mental Retardation, Autosomal Recessive 42 57 72 29 6 70
Glycosylphosphatidylinositol Biosynthesis Defect 9 57 72
Gpibd9 57 72
Mrt42 57 72
Glycosylphosphatidylinositol Biosynthesis Defect 9; Gpibd9 57
Mental Retardation, Autosomal Recessive, Type 42 39
Autosomal Recessive Mental Retardation-42 36

Characteristics:

OMIM®:

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

Miscellaneous:
onset in early infancy
variable features


HPO:

31
mental retardation, autosomal recessive 42:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mental Retardation, Autosomal Recessive 42

OMIM® : 57 Autosomal recessive mental retardation-42 is a neurodevelopmental disorder characterized by severely delayed psychomotor development. Additional features are variable and include nonspecific dysmorphic facial features, hypotonia, structural brain abnormalities, and cortical visual impairment (summary by Bosch et al., 2015). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis. For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293). (615802) (Updated 05-Apr-2021)

MalaCards based summary : Mental Retardation, Autosomal Recessive 42, is also known as glycosylphosphatidylinositol biosynthesis defect 9. An important gene associated with Mental Retardation, Autosomal Recessive 42 is PGAP1 (Post-GPI Attachment To Proteins Inositol Deacylase 1), and among its related pathways/superpathways is Glycosylphosphatidylinositol (GPI)-anchor biosynthesis. Related phenotypes are spasticity and cerebellar hypoplasia

KEGG : 36 Autosomal recessive mental retardation-42 (MRT42) is a neurodevelopmental disorder. Clinic features are variable and include neonatal hypotonia, severe intellectual disability, and major and absence epilepsy. Homozygous mutation in PGAP1 has been identified.

UniProtKB/Swiss-Prot : 72 Mental retardation, autosomal recessive 42: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.

Related Diseases for Mental Retardation, Autosomal Recessive 42

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 42

Human phenotypes related to Mental Retardation, Autosomal Recessive 42:

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 spasticity 31 occasional (7.5%) HP:0001257
2 cerebellar hypoplasia 31 occasional (7.5%) HP:0001321
3 hypoplasia of the corpus callosum 31 occasional (7.5%) HP:0002079
4 cerebral visual impairment 31 occasional (7.5%) HP:0100704
5 delayed myelination 31 occasional (7.5%) HP:0012448
6 seizure 31 occasional (7.5%) HP:0001250
7 intellectual disability 31 HP:0001249
8 short neck 31 HP:0000470
9 global developmental delay 31 HP:0001263
10 macrotia 31 HP:0000400
11 abnormality of the dentition 31 HP:0000164
12 microcephaly 31 HP:0000252
13 neonatal hypotonia 31 HP:0001319
14 short stature 31 HP:0004322
15 abnormal electroretinogram 31 HP:0000512
16 absent speech 31 HP:0001344
17 wide mouth 31 HP:0000154
18 cerebral atrophy 31 HP:0002059
19 retinal dystrophy 31 HP:0000556

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Neck:
short neck

Growth Height:
short stature

Head And Neck Ears:
large ears

Neurologic Central Nervous System:
delayed psychomotor development
spasticity (in some patients)
cerebellar hypoplasia (in some patients)
cerebral atrophy (in some patients)
thin corpus callosum (in some patients)
more
Head And Neck Teeth:
abnormal teeth

Head And Neck Nose:
flattened nasal root

Muscle Soft Tissue:
neonatal hypotonia

Neurologic Behavioral Psychiatric Manifestations:
stereotypic movements

Head And Neck Mouth:
large mouth

Head And Neck Head:
small head

Head And Neck Eyes:
cortical visual impairment (in some patients)
retinal dystrophy (1 family)
abnormal electroretinogram (1 family)

Clinical features from OMIM®:

615802 (Updated 05-Apr-2021)

Drugs & Therapeutics for Mental Retardation, Autosomal Recessive 42

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Recessive 42

Genetic Tests for Mental Retardation, Autosomal Recessive 42

Genetic tests related to Mental Retardation, Autosomal Recessive 42:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Recessive 42 29 PGAP1

Anatomical Context for Mental Retardation, Autosomal Recessive 42

Publications for Mental Retardation, Autosomal Recessive 42

Articles related to Mental Retardation, Autosomal Recessive 42:

# Title Authors PMID Year
1
Cerebral visual impairment and intellectual disability caused by PGAP1 variants. 57
25804403 2015
2
Additional evidence that PGAP1 loss of function causes autosomal recessive global developmental delay and encephalopathy. 57
25823418 2015
3
Loss of function of PGAP1 as a cause of severe encephalopathy identified by Whole Exome Sequencing: Lessons of the bioinformatics pipeline. 57
26050939 2015
4
Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy. 57
24784135 2014
5
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. 57
24482476 2014
6
PGAP1 knock-out mice show otocephaly and male infertility. 6
17711852 2007

Variations for Mental Retardation, Autosomal Recessive 42

ClinVar genetic disease variations for Mental Retardation, Autosomal Recessive 42:

6 (show top 50) (show all 65)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PGAP1 NM_024989.4(PGAP1):c.1090-2A>G SNV Pathogenic 222981 rs869025581 GRCh37: 2:197755637-197755637
GRCh38: 2:196890913-196890913
2 PGAP1 NM_024989.4(PGAP1):c.1396C>T (p.Gln466Ter) SNV Pathogenic 222978 rs143038880 GRCh37: 2:197740500-197740500
GRCh38: 2:196875776-196875776
3 PGAP1 NM_024989.4(PGAP1):c.274_276del (p.Pro92del) Deletion Pathogenic 222979 rs869025579 GRCh37: 2:197784746-197784748
GRCh38: 2:196920022-196920024
4 PGAP1 NM_024989.4(PGAP1):c.921_925del (p.Lys308fs) Deletion Pathogenic 222980 rs869025580 GRCh37: 2:197761857-197761861
GRCh38: 2:196897133-196897137
5 PGAP1 NM_024989.4(PGAP1):c.1952+1G>T SNV Pathogenic 101081 rs587777202 GRCh37: 2:197712670-197712670
GRCh38: 2:196847946-196847946
6 PGAP1 NM_024989.4(PGAP1):c.927+1G>A SNV Pathogenic 436299 rs750079325 GRCh37: 2:197761854-197761854
GRCh38: 2:196897130-196897130
7 PGAP1 NM_024989.4(PGAP1):c.427C>T (p.Gln143Ter) SNV Pathogenic 474992 rs1410587479 GRCh37: 2:197781192-197781192
GRCh38: 2:196916468-196916468
8 PGAP1 NM_024989.4(PGAP1):c.1390_1393TACA[1] (p.Ile465fs) Microsatellite Pathogenic 474988 rs781325598 GRCh37: 2:197740499-197740502
GRCh38: 2:196875775-196875778
9 PGAP1 NM_024989.4(PGAP1):c.2357_2358insTA (p.Arg786fs) Insertion Pathogenic 503954 rs767774867 GRCh37: 2:197708779-197708780
GRCh38: 2:196844055-196844056
10 PGAP1 NM_024989.4(PGAP1):c.776T>G (p.Leu259Ter) SNV Pathogenic 915318 GRCh37: 2:197767340-197767340
GRCh38: 2:196902616-196902616
11 PGAP1 NM_024989.4(PGAP1):c.1501-2A>G SNV Pathogenic 983141 GRCh37: 2:197738305-197738305
GRCh38: 2:196873581-196873581
12 PGAP1 NM_024989.4(PGAP1):c.1572T>A (p.Tyr524Ter) SNV Pathogenic 222977 rs869025578 GRCh37: 2:197737731-197737731
GRCh38: 2:196873007-196873007
13 PGAP1 NM_024989.4(PGAP1):c.1663C>T (p.Gln555Ter) SNV Pathogenic 1032203 GRCh37: 2:197737230-197737230
GRCh38: 2:196872506-196872506
14 PGAP1 NM_024989.4(PGAP1):c.2042del (p.Leu681fs) Deletion Likely pathogenic 983046 GRCh37: 2:197711835-197711835
GRCh38: 2:196847111-196847111
15 PGAP1 NM_024989.4(PGAP1):c.1066A>T (p.Lys356Ter) SNV Likely pathogenic 801848 rs1576164991 GRCh37: 2:197757093-197757093
GRCh38: 2:196892369-196892369
16 PGAP1 NM_024989.4(PGAP1):c.2274C>G (p.Tyr758Ter) SNV Likely pathogenic 801847 rs1576086299 GRCh37: 2:197710618-197710618
GRCh38: 2:196845894-196845894
17 PGAP1 NM_024989.4(PGAP1):c.586_588CTT[1] (p.Leu197del) Microsatellite Likely pathogenic 132084 rs587777378 GRCh37: 2:197777664-197777666
GRCh38: 2:196912940-196912942
18 PGAP1 NM_024989.4(PGAP1):c.2204T>A (p.Leu735Ter) SNV Likely pathogenic 436298 rs1361547443 GRCh37: 2:197710688-197710688
GRCh38: 2:196845964-196845964
19 PGAP1 NM_024989.4(PGAP1):c.2338-2A>C SNV Likely pathogenic 571870 rs1559328283 GRCh37: 2:197708801-197708801
GRCh38: 2:196844077-196844077
20 PGAP1 NM_024989.4(PGAP1):c.2287G>A (p.Val763Ile) SNV Conflicting interpretations of pathogenicity 705025 rs143960563 GRCh37: 2:197709298-197709298
GRCh38: 2:196844574-196844574
21 PGAP1 NM_024989.4(PGAP1):c.1882A>G (p.Thr628Ala) SNV Uncertain significance 1028355 GRCh37: 2:197712741-197712741
GRCh38: 2:196848017-196848017
22 PGAP1 NM_024989.4(PGAP1):c.2128T>C (p.Ser710Pro) SNV Uncertain significance 1032204 GRCh37: 2:197711749-197711749
GRCh38: 2:196847025-196847025
23 PGAP1 NM_024989.4(PGAP1):c.153A>G (p.Ile51Met) SNV Uncertain significance 1038210 GRCh37: 2:197784869-197784869
GRCh38: 2:196920145-196920145
24 PGAP1 NM_024989.4(PGAP1):c.55T>C (p.Phe19Leu) SNV Uncertain significance 1040896 GRCh37: 2:197791286-197791286
GRCh38: 2:196926562-196926562
25 PGAP1 NM_024989.4(PGAP1):c.1069T>C (p.Trp357Arg) SNV Uncertain significance 689776 rs747024084 GRCh37: 2:197757090-197757090
GRCh38: 2:196892366-196892366
26 PGAP1 NM_024989.4(PGAP1):c.1089C>T (p.Asn363=) SNV Uncertain significance 834520 GRCh37: 2:197757070-197757070
GRCh38: 2:196892346-196892346
27 PGAP1 NM_024989.4(PGAP1):c.695A>G (p.His232Arg) SNV Uncertain significance 863003 GRCh37: 2:197767421-197767421
GRCh38: 2:196902697-196902697
28 PGAP1 NM_024989.4(PGAP1):c.2607_2610dup (p.Thr871fs) Duplication Uncertain significance 946366 GRCh37: 2:197707464-197707465
GRCh38: 2:196842740-196842741
29 PGAP1 NM_024989.4(PGAP1):c.1447G>A (p.Val483Met) SNV Uncertain significance 1001534 GRCh37: 2:197738462-197738462
GRCh38: 2:196873738-196873738
30 PGAP1 NM_024989.4(PGAP1):c.479G>A (p.Gly160Asp) SNV Uncertain significance 1008940 GRCh37: 2:197777776-197777776
GRCh38: 2:196913052-196913052
31 PGAP1 NM_024989.4(PGAP1):c.2642A>G (p.Lys881Arg) SNV Uncertain significance 1011201 GRCh37: 2:197706085-197706085
GRCh38: 2:196841361-196841361
32 PGAP1 NM_024989.4(PGAP1):c.1953G>A (p.Gly651=) SNV Uncertain significance 850128 GRCh37: 2:197711924-197711924
GRCh38: 2:196847200-196847200
33 PGAP1 NM_024989.4(PGAP1):c.34G>T (p.Ala12Ser) SNV Uncertain significance 948463 GRCh37: 2:197791307-197791307
GRCh38: 2:196926583-196926583
34 PGAP1 NM_024989.4(PGAP1):c.808-7_808-3del Microsatellite Uncertain significance 1018989 GRCh37: 2:197763096-197763100
GRCh38: 2:196898372-196898376
35 PGAP1 NM_024989.4(PGAP1):c.331A>G (p.Lys111Glu) SNV Uncertain significance 436297 rs142320636 GRCh37: 2:197781288-197781288
GRCh38: 2:196916564-196916564
36 PGAP1 NM_024989.4(PGAP1):c.2690T>C (p.Phe897Ser) SNV Uncertain significance 580913 rs1559326086 GRCh37: 2:197706037-197706037
GRCh38: 2:196841313-196841313
37 PGAP1 NM_024989.4(PGAP1):c.31C>G (p.Leu11Val) SNV Uncertain significance 581237 rs375123215 GRCh37: 2:197791310-197791310
GRCh38: 2:196926586-196926586
38 PGAP1 NM_024989.4(PGAP1):c.1274A>G (p.Tyr425Cys) SNV Uncertain significance 641567 rs1291611574 GRCh37: 2:197744876-197744876
GRCh38: 2:196880152-196880152
39 PGAP1 NM_024989.4(PGAP1):c.2375A>G (p.Asn792Ser) SNV Uncertain significance 645573 rs36086547 GRCh37: 2:197708762-197708762
GRCh38: 2:196844038-196844038
40 PGAP1 NM_024989.4(PGAP1):c.2276A>G (p.Tyr759Cys) SNV Uncertain significance 660021 rs776817075 GRCh37: 2:197710616-197710616
GRCh38: 2:196845892-196845892
41 PGAP1 NM_024989.4(PGAP1):c.911A>T (p.Asp304Val) SNV Uncertain significance 661100 rs1323722383 GRCh37: 2:197761871-197761871
GRCh38: 2:196897147-196897147
42 PGAP1 NM_024989.4(PGAP1):c.1558A>G (p.Ile520Val) SNV Uncertain significance 474990 rs201002323 GRCh37: 2:197737745-197737745
GRCh38: 2:196873021-196873021
43 PGAP1 NM_024989.4(PGAP1):c.2286+5G>A SNV Uncertain significance 489401 rs937847069 GRCh37: 2:197710601-197710601
GRCh38: 2:196845877-196845877
44 PGAP1 NM_024989.4(PGAP1):c.2643G>C (p.Lys881Asn) SNV Uncertain significance 541838 rs776985592 GRCh37: 2:197706084-197706084
GRCh38: 2:196841360-196841360
45 PGAP1 NM_024989.4(PGAP1):c.1475A>G (p.Asn492Ser) SNV Uncertain significance 541839 rs199809707 GRCh37: 2:197738434-197738434
GRCh38: 2:196873710-196873710
46 PGAP1 NM_024989.4(PGAP1):c.1721G>A (p.Arg574Gln) SNV Uncertain significance 541840 rs769577378 GRCh37: 2:197737172-197737172
GRCh38: 2:196872448-196872448
47 PGAP1 NM_024989.4(PGAP1):c.339G>C (p.Glu113Asp) SNV Uncertain significance 548539 rs1457240197 GRCh37: 2:197781280-197781280
GRCh38: 2:196916556-196916556
48 PGAP1 NM_024989.4(PGAP1):c.187G>A (p.Ala63Thr) SNV Likely benign 703900 rs201585822 GRCh37: 2:197784835-197784835
GRCh38: 2:196920111-196920111
49 PGAP1 NM_024989.4(PGAP1):c.927+4T>C SNV Likely benign 705297 rs201984003 GRCh37: 2:197761851-197761851
GRCh38: 2:196897127-196897127
50 PGAP1 NM_024989.4(PGAP1):c.650-6C>T SNV Likely benign 706294 rs371032957 GRCh37: 2:197767472-197767472
GRCh38: 2:196902748-196902748

Expression for Mental Retardation, Autosomal Recessive 42

Search GEO for disease gene expression data for Mental Retardation, Autosomal Recessive 42.

Pathways for Mental Retardation, Autosomal Recessive 42

Pathways related to Mental Retardation, Autosomal Recessive 42 according to KEGG:

36
# Name Kegg Source Accession
1 Glycosylphosphatidylinositol (GPI)-anchor biosynthesis hsa00563

GO Terms for Mental Retardation, Autosomal Recessive 42

Sources for Mental Retardation, Autosomal Recessive 42

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....