MCID: MNT210
MIFTS: 25

Mental Retardation, Autosomal Recessive 42

Categories: Genetic diseases, Neuronal diseases, Mental diseases, Fetal diseases, Rare diseases, Eye diseases, Cardiovascular diseases, Bone diseases, Metabolic diseases, Skin diseases, Gastrointestinal 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 75 29 6 73
Glycosylphosphatidylinositol Biosynthesis Defect 9 57 75
Gpibd9 57 75
Mrt42 57 75
Glycosylphosphatidylinositol Biosynthesis Defect 9; Gpibd9 57
Mental Retardation, Autosomal Recessive, Type 42 ) 40
Autosomal Recessive Mental Retardation-42 37

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in early infancy
variable features


HPO:

32
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)

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 1), and among its related pathways/superpathways is Glycosylphosphatidylinositol (GPI)-anchor biosynthesis. Affiliated tissues include brain, and related phenotypes are short neck and intellectual disability

UniProtKB/Swiss-Prot : 75 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 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 42

Symptoms via clinical synopsis from OMIM:

57
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)
thin corpus callosum (in some patients)
seizures (1 patient)
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:
retinal dystrophy (1 family)
cortical visual impairment (in some patients)
abnormal electroretinogram (1 family)


Clinical features from OMIM:

615802

Human phenotypes related to Mental Retardation, Autosomal Recessive 42:

32 (show all 18)
# Description HPO Frequency HPO Source Accession
1 short neck 32 HP:0000470
2 intellectual disability 32 HP:0001249
3 seizures 32 occasional (7.5%) HP:0001250
4 spasticity 32 occasional (7.5%) HP:0001257
5 macrotia 32 HP:0000400
6 global developmental delay 32 HP:0001263
7 abnormality of the dentition 32 HP:0000164
8 microcephaly 32 HP:0000252
9 neonatal hypotonia 32 HP:0001319
10 short stature 32 HP:0004322
11 abnormal electroretinogram 32 HP:0000512
12 cerebellar hypoplasia 32 occasional (7.5%) HP:0001321
13 wide mouth 32 HP:0000154
14 hypoplasia of the corpus callosum 32 occasional (7.5%) HP:0002079
15 cerebral atrophy 32 HP:0002059
16 retinal dystrophy 32 HP:0000556
17 cortical visual impairment 32 occasional (7.5%) HP:0100704
18 delayed myelination 32 occasional (7.5%) HP:0012448

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

MalaCards organs/tissues related to Mental Retardation, Autosomal Recessive 42:

41
Brain

Publications for Mental Retardation, Autosomal Recessive 42

Variations for Mental Retardation, Autosomal Recessive 42

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

6
(show all 42)
# Gene Variation Type Significance SNP ID Assembly Location
1 PGAP1 NM_024989.3(PGAP1): c.1952+1G> T single nucleotide variant Pathogenic rs587777202 GRCh37 Chromosome 2, 197712670: 197712670
2 PGAP1 NM_024989.3(PGAP1): c.1952+1G> T single nucleotide variant Pathogenic rs587777202 GRCh38 Chromosome 2, 196847946: 196847946
3 PGAP1 NM_024989.3(PGAP1): c.589_591delCTT (p.Leu197del) deletion Pathogenic rs587777378 GRCh37 Chromosome 2, 197777664: 197777666
4 PGAP1 NM_024989.3(PGAP1): c.589_591delCTT (p.Leu197del) deletion Pathogenic rs587777378 GRCh38 Chromosome 2, 196912940: 196912942
5 PGAP1 NM_024989.3(PGAP1): c.1572T> A (p.Tyr524Ter) single nucleotide variant Pathogenic rs869025578 GRCh37 Chromosome 2, 197737731: 197737731
6 PGAP1 NM_024989.3(PGAP1): c.1572T> A (p.Tyr524Ter) single nucleotide variant Pathogenic rs869025578 GRCh38 Chromosome 2, 196873007: 196873007
7 PGAP1 NM_024989.3(PGAP1): c.1396C> T (p.Gln466Ter) single nucleotide variant Pathogenic rs143038880 GRCh38 Chromosome 2, 196875776: 196875776
8 PGAP1 NM_024989.3(PGAP1): c.1396C> T (p.Gln466Ter) single nucleotide variant Pathogenic rs143038880 GRCh37 Chromosome 2, 197740500: 197740500
9 PGAP1 NM_024989.3(PGAP1): c.274_276delCCT (p.Pro92del) deletion Pathogenic rs869025579 GRCh37 Chromosome 2, 197784746: 197784748
10 PGAP1 NM_024989.3(PGAP1): c.274_276delCCT (p.Pro92del) deletion Pathogenic rs869025579 GRCh38 Chromosome 2, 196920022: 196920024
11 PGAP1 NM_024989.3(PGAP1): c.921_925delTAAAC (p.Lys308Asnfs) deletion Pathogenic rs869025580 GRCh37 Chromosome 2, 197761857: 197761861
12 PGAP1 NM_024989.3(PGAP1): c.921_925delTAAAC (p.Lys308Asnfs) deletion Pathogenic rs869025580 GRCh38 Chromosome 2, 196897133: 196897137
13 PGAP1 NM_024989.3(PGAP1): c.1090-2A> G single nucleotide variant Pathogenic rs869025581 GRCh37 Chromosome 2, 197755637: 197755637
14 PGAP1 NM_024989.3(PGAP1): c.1090-2A> G single nucleotide variant Pathogenic rs869025581 GRCh38 Chromosome 2, 196890913: 196890913
15 PGAP1 NM_024989.3(PGAP1): c.427C> T (p.Gln143Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 2, 196916468: 196916468
16 PGAP1 NM_024989.3(PGAP1): c.2204T> A (p.Leu735Ter) single nucleotide variant Likely pathogenic GRCh38 Chromosome 2, 196845964: 196845964
17 PGAP1 NM_024989.3(PGAP1): c.2204T> A (p.Leu735Ter) single nucleotide variant Likely pathogenic GRCh37 Chromosome 2, 197710688: 197710688
18 PGAP1 NM_024989.3(PGAP1): c.1753C> G (p.Gln585Glu) single nucleotide variant Benign/Likely benign rs62185645 GRCh38 Chromosome 2, 196870955: 196870955
19 PGAP1 NM_024989.3(PGAP1): c.1753C> G (p.Gln585Glu) single nucleotide variant Benign/Likely benign rs62185645 GRCh37 Chromosome 2, 197735679: 197735679
20 PGAP1 NM_024989.3(PGAP1): c.927+1G> A single nucleotide variant Pathogenic rs750079325 GRCh38 Chromosome 2, 196897130: 196897130
21 PGAP1 NM_024989.3(PGAP1): c.927+1G> A single nucleotide variant Pathogenic rs750079325 GRCh37 Chromosome 2, 197761854: 197761854
22 PGAP1 NM_024989.3(PGAP1): c.906T> C (p.Leu302=) single nucleotide variant Benign/Likely benign rs138525017 GRCh38 Chromosome 2, 196897152: 196897152
23 PGAP1 NM_024989.3(PGAP1): c.906T> C (p.Leu302=) single nucleotide variant Benign/Likely benign rs138525017 GRCh37 Chromosome 2, 197761876: 197761876
24 PGAP1 NM_024989.3(PGAP1): c.534T> G (p.Leu178=) single nucleotide variant Benign rs35444896 GRCh38 Chromosome 2, 196912997: 196912997
25 PGAP1 NM_024989.3(PGAP1): c.427C> T (p.Gln143Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 2, 197781192: 197781192
26 PGAP1 NM_024989.3(PGAP1): c.534T> G (p.Leu178=) single nucleotide variant Benign rs35444896 GRCh37 Chromosome 2, 197777721: 197777721
27 PGAP1 NM_024989.3(PGAP1): c.2007C> T (p.Ala669=) single nucleotide variant Benign rs149815494 GRCh38 Chromosome 2, 196847146: 196847146
28 PGAP1 NM_024989.3(PGAP1): c.2007C> T (p.Ala669=) single nucleotide variant Benign rs149815494 GRCh37 Chromosome 2, 197711870: 197711870
29 PGAP1 NM_024989.3(PGAP1): c.1394_1397delTACA (p.Ile465Serfs) deletion Pathogenic rs781325598 GRCh38 Chromosome 2, 196875775: 196875778
30 PGAP1 NM_024989.3(PGAP1): c.1394_1397delTACA (p.Ile465Serfs) deletion Pathogenic rs781325598 GRCh37 Chromosome 2, 197740499: 197740502
31 PGAP1 NM_024989.3(PGAP1): c.1876T> C (p.Tyr626His) single nucleotide variant Likely benign rs150893861 GRCh37 Chromosome 2, 197712747: 197712747
32 PGAP1 NM_024989.3(PGAP1): c.1876T> C (p.Tyr626His) single nucleotide variant Likely benign rs150893861 GRCh38 Chromosome 2, 196848023: 196848023
33 PGAP1 NM_024989.3(PGAP1): c.1558A> G (p.Ile520Val) single nucleotide variant Uncertain significance rs201002323 GRCh37 Chromosome 2, 197737745: 197737745
34 PGAP1 NM_024989.3(PGAP1): c.1558A> G (p.Ile520Val) single nucleotide variant Uncertain significance rs201002323 GRCh38 Chromosome 2, 196873021: 196873021
35 PGAP1 NM_024989.3(PGAP1): c.2286+5G> A single nucleotide variant Uncertain significance rs937847069 GRCh38 Chromosome 2, 196845877: 196845877
36 PGAP1 NM_024989.3(PGAP1): c.2286+5G> A single nucleotide variant Uncertain significance rs937847069 GRCh37 Chromosome 2, 197710601: 197710601
37 PGAP1 NM_024989.3(PGAP1): c.2643G> C (p.Lys881Asn) single nucleotide variant Uncertain significance rs776985592 GRCh38 Chromosome 2, 196841360: 196841360
38 PGAP1 NM_024989.3(PGAP1): c.2643G> C (p.Lys881Asn) single nucleotide variant Uncertain significance rs776985592 GRCh37 Chromosome 2, 197706084: 197706084
39 PGAP1 NM_024989.3(PGAP1): c.1721G> A (p.Arg574Gln) single nucleotide variant Uncertain significance rs769577378 GRCh38 Chromosome 2, 196872448: 196872448
40 PGAP1 NM_024989.3(PGAP1): c.1721G> A (p.Arg574Gln) single nucleotide variant Uncertain significance rs769577378 GRCh37 Chromosome 2, 197737172: 197737172
41 PGAP1 NM_024989.3(PGAP1): c.1475A> G (p.Asn492Ser) single nucleotide variant Uncertain significance rs199809707 GRCh38 Chromosome 2, 196873710: 196873710
42 PGAP1 NM_024989.3(PGAP1): c.1475A> G (p.Asn492Ser) single nucleotide variant Uncertain significance rs199809707 GRCh37 Chromosome 2, 197738434: 197738434

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:

37
# 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

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