MCID: HYP442
MIFTS: 22

Hyperphosphatasia with Mental Retardation Syndrome 2

Categories: Genetic diseases, Neuronal diseases, Mental diseases

Aliases & Classifications for Hyperphosphatasia with Mental Retardation Syndrome 2

MalaCards integrated aliases for Hyperphosphatasia with Mental Retardation Syndrome 2:

Name: Hyperphosphatasia with Mental Retardation Syndrome 2 57 75 29 13 6 73
Glycosylphosphatidylinositol Biosynthesis Defect 6 57 75
Hpmrs2 57 75
Gpibd6 57 75
Hyperphosphatasia, with Mental Retardation Syndrome, Type 2 ) 40
Glycosylphosphatidylinositol Biosynthesis Defect 6; Gpibd6 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth


HPO:

32
hyperphosphatasia with mental retardation syndrome 2:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hyperphosphatasia with Mental Retardation Syndrome 2

OMIM : 57 Hyperphosphatasia with mental retardation syndrome-2 is an autosomal recessive disorder characterized by moderately to severely delayed psychomotor development, facial dysmorphism, brachytelephalangy, and increased serum alkaline phosphatase (hyperphosphatasia). Some patients may have additional features, such as cardiac septal defects or seizures (summary by Krawitz et al., 2012). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis. For a discussion of genetic heterogeneity of hyperphosphatasia with mental retardation syndrome, see HPMRS1 (239300). For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293). (614749)

MalaCards based summary : Hyperphosphatasia with Mental Retardation Syndrome 2, is also known as glycosylphosphatidylinositol biosynthesis defect 6. An important gene associated with Hyperphosphatasia with Mental Retardation Syndrome 2 is PIGO (Phosphatidylinositol Glycan Anchor Biosynthesis Class O). Affiliated tissues include heart, and related phenotypes are vesicoureteral reflux and microcephaly

UniProtKB/Swiss-Prot : 75 Hyperphosphatasia with mental retardation syndrome 2: An autosomal recessive form of intellectual disability characterized by facial dysmorphism, brachytelephalangy, and persistent elevated serum alkaline phosphatase (hyperphosphatasia). Some patients may have additional features, such as cardiac septal defects or seizures.

Related Diseases for Hyperphosphatasia with Mental Retardation Syndrome 2

Symptoms & Phenotypes for Hyperphosphatasia with Mental Retardation Syndrome 2

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
upslanting palpebral fissures
long palpebral fissures

Head And Neck Ears:
hearing impairment

Head And Neck Mouth:
cleft palate
tented mouth

Abdomen Gastrointestinal:
anal atresia
anal stenosis
megacolon

Skeletal Feet:
brachytelephalangy
broad halluces

Head And Neck Head:
microcephaly (in some patients)

Skeletal Skull:
plagiocephaly (1 patient)
coronal synostosis (1 patient)

Skin Nails Hair Nails:
hypoplastic or absent nails

Neurologic Central Nervous System:
seizures
delayed speech and language development
hypotonia
delayed psychomotor development, moderate to severe
enlarged ventricles (1 patient)

Head And Neck Nose:
short nose
broad nasal tip
broad nasal bridge

Cardiovascular Heart:
atrial septal defect
heart defects

Skeletal Hands:
brachytelephalangy

Laboratory Abnormalities:
increased serum alkaline phosphatase
hyperphosphatasia

Growth Other:
poor growth

Genitourinary Bladder:
vesicoureteral reflux (1 patient)


Clinical features from OMIM:

614749

Human phenotypes related to Hyperphosphatasia with Mental Retardation Syndrome 2:

32 (show all 21)
# Description HPO Frequency HPO Source Accession
1 vesicoureteral reflux 32 occasional (7.5%) HP:0000076
2 microcephaly 32 occasional (7.5%) HP:0000252
3 hypertelorism 32 HP:0000316
4 wide nasal bridge 32 HP:0000431
5 broad nasal tip 32 HP:0000455
6 long palpebral fissure 32 HP:0000637
7 delayed speech and language development 32 HP:0000750
8 intellectual disability 32 HP:0001249
9 seizures 32 occasional (7.5%) HP:0001250
10 generalized hypotonia 32 HP:0001290
11 growth delay 32 HP:0001510
12 atrial septal defect 32 occasional (7.5%) HP:0001631
13 anal atresia 32 HP:0002023
14 anal stenosis 32 HP:0002025
15 ventriculomegaly 32 occasional (7.5%) HP:0002119
16 elevated alkaline phosphatase 32 HP:0003155
17 short nose 32 HP:0003196
18 shortening of all distal phalanges of the fingers 32 HP:0006118
19 broad hallux 32 HP:0010055
20 tented upper lip vermilion 32 HP:0010804
21 anterior plagiocephaly 32 occasional (7.5%) HP:0011326

Drugs & Therapeutics for Hyperphosphatasia with Mental Retardation Syndrome 2

Search Clinical Trials , NIH Clinical Center for Hyperphosphatasia with Mental Retardation Syndrome 2

Genetic Tests for Hyperphosphatasia with Mental Retardation Syndrome 2

Genetic tests related to Hyperphosphatasia with Mental Retardation Syndrome 2:

# Genetic test Affiliating Genes
1 Hyperphosphatasia with Mental Retardation Syndrome 2 29 PIGO

Anatomical Context for Hyperphosphatasia with Mental Retardation Syndrome 2

MalaCards organs/tissues related to Hyperphosphatasia with Mental Retardation Syndrome 2:

41
Heart

Publications for Hyperphosphatasia with Mental Retardation Syndrome 2

Variations for Hyperphosphatasia with Mental Retardation Syndrome 2

UniProtKB/Swiss-Prot genetic disease variations for Hyperphosphatasia with Mental Retardation Syndrome 2:

75
# Symbol AA change Variation ID SNP ID
1 PIGO p.Leu957Phe VAR_068809 rs142164373
2 PIGO p.Arg119Trp VAR_079410 rs757441073
3 PIGO p.Asn370Ser VAR_079413
4 PIGO p.Lys1047Glu VAR_079416

ClinVar genetic disease variations for Hyperphosphatasia with Mental Retardation Syndrome 2:

6
(show top 50) (show all 139)
# Gene Variation Type Significance SNP ID Assembly Location
1 PIGO NM_032634.3(PIGO): c.2869C> T (p.Leu957Phe) single nucleotide variant Pathogenic rs142164373 GRCh37 Chromosome 9, 35090263: 35090263
2 PIGO NM_032634.3(PIGO): c.2869C> T (p.Leu957Phe) single nucleotide variant Pathogenic rs142164373 GRCh38 Chromosome 9, 35090266: 35090266
3 PIGO NM_032634.3(PIGO): c.2361dupC duplication Likely pathogenic rs770591449 GRCh37 Chromosome 9, 35091523: 35091523
4 PIGO NM_032634.3(PIGO): c.2361dupC duplication Likely pathogenic rs770591449 GRCh38 Chromosome 9, 35091526: 35091526
5 PIGO NM_032634.3(PIGO): c.3069+5G> A single nucleotide variant Pathogenic rs368953604 GRCh37 Chromosome 9, 35090058: 35090058
6 PIGO NM_032634.3(PIGO): c.3069+5G> A single nucleotide variant Pathogenic rs368953604 GRCh38 Chromosome 9, 35090061: 35090061
7 PIGO NM_032634.3(PIGO): c.2268G> A (p.Ala756=) single nucleotide variant Conflicting interpretations of pathogenicity rs149171782 GRCh37 Chromosome 9, 35091616: 35091616
8 PIGO NM_032634.3(PIGO): c.2268G> A (p.Ala756=) single nucleotide variant Conflicting interpretations of pathogenicity rs149171782 GRCh38 Chromosome 9, 35091619: 35091619
9 PIGO NM_032634.3(PIGO): c.2198G> A (p.Arg733Gln) single nucleotide variant Benign rs373305585 GRCh37 Chromosome 9, 35091686: 35091686
10 PIGO NM_032634.3(PIGO): c.2198G> A (p.Arg733Gln) single nucleotide variant Benign rs373305585 GRCh38 Chromosome 9, 35091689: 35091689
11 PIGO NM_032634.3(PIGO): c.3114C> T (p.Leu1038=) single nucleotide variant Benign rs2298314 GRCh37 Chromosome 9, 35089403: 35089403
12 PIGO NM_032634.3(PIGO): c.3114C> T (p.Leu1038=) single nucleotide variant Benign rs2298314 GRCh38 Chromosome 9, 35089406: 35089406
13 PIGO NM_032634.3(PIGO): c.2040G> C (p.Leu680=) single nucleotide variant Conflicting interpretations of pathogenicity rs41274877 GRCh37 Chromosome 9, 35091844: 35091844
14 PIGO NM_032634.3(PIGO): c.2040G> C (p.Leu680=) single nucleotide variant Conflicting interpretations of pathogenicity rs41274877 GRCh38 Chromosome 9, 35091847: 35091847
15 PIGO NM_032634.3(PIGO): c.1404A> C (p.Ala468=) single nucleotide variant Benign rs35287398 GRCh37 Chromosome 9, 35092480: 35092480
16 PIGO NM_032634.3(PIGO): c.1404A> C (p.Ala468=) single nucleotide variant Benign rs35287398 GRCh38 Chromosome 9, 35092483: 35092483
17 PIGO NM_032634.3(PIGO): c.461C> A (p.Ala154Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs142562923 GRCh37 Chromosome 9, 35095102: 35095102
18 PIGO NM_032634.3(PIGO): c.461C> A (p.Ala154Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs142562923 GRCh38 Chromosome 9, 35095105: 35095105
19 PIGO NM_032634.3(PIGO): c.423C> T (p.Gly141=) single nucleotide variant Benign/Likely benign rs116248521 GRCh37 Chromosome 9, 35095140: 35095140
20 PIGO NM_032634.3(PIGO): c.423C> T (p.Gly141=) single nucleotide variant Benign/Likely benign rs116248521 GRCh38 Chromosome 9, 35095143: 35095143
21 PIGO NM_032634.3(PIGO): c.1810dupC (p.Arg604Profs) duplication Pathogenic/Likely pathogenic rs774508288 GRCh37 Chromosome 9, 35092074: 35092074
22 PIGO NM_032634.3(PIGO): c.1810dupC (p.Arg604Profs) duplication Pathogenic/Likely pathogenic rs774508288 GRCh38 Chromosome 9, 35092077: 35092077
23 PIGO NM_032634.3(PIGO): c.3118G> A (p.Val1040Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs149439295 GRCh37 Chromosome 9, 35089399: 35089399
24 PIGO NM_032634.3(PIGO): c.3118G> A (p.Val1040Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs149439295 GRCh38 Chromosome 9, 35089402: 35089402
25 PIGO NM_032634.3(PIGO): c.714C> T (p.Gly238=) single nucleotide variant Conflicting interpretations of pathogenicity rs148186264 GRCh37 Chromosome 9, 35093963: 35093963
26 PIGO NM_032634.3(PIGO): c.714C> T (p.Gly238=) single nucleotide variant Conflicting interpretations of pathogenicity rs148186264 GRCh38 Chromosome 9, 35093966: 35093966
27 PIGO NM_032634.3(PIGO): c.626A> G (p.Asn209Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs138028827 GRCh37 Chromosome 9, 35094242: 35094242
28 PIGO NM_032634.3(PIGO): c.626A> G (p.Asn209Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs138028827 GRCh38 Chromosome 9, 35094245: 35094245
29 PIGO NM_032634.3(PIGO): c.3163T> C (p.Phe1055Leu) single nucleotide variant Uncertain significance rs147316771 GRCh37 Chromosome 9, 35089196: 35089196
30 PIGO NM_032634.3(PIGO): c.3163T> C (p.Phe1055Leu) single nucleotide variant Uncertain significance rs147316771 GRCh38 Chromosome 9, 35089199: 35089199
31 PIGO NM_032634.3(PIGO): c.469G> A (p.Ala157Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs542399310 GRCh37 Chromosome 9, 35095094: 35095094
32 PIGO NM_032634.3(PIGO): c.469G> A (p.Ala157Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs542399310 GRCh38 Chromosome 9, 35095097: 35095097
33 PIGO NM_032634.3(PIGO): c.2627G> A (p.Gly876Glu) single nucleotide variant Uncertain significance rs1057524330 GRCh37 Chromosome 9, 35091257: 35091257
34 PIGO NM_032634.3(PIGO): c.2627G> A (p.Gly876Glu) single nucleotide variant Uncertain significance rs1057524330 GRCh38 Chromosome 9, 35091260: 35091260
35 PIGO NM_032634.3(PIGO): c.969T> G (p.Leu323=) single nucleotide variant Likely benign rs142658052 GRCh37 Chromosome 9, 35093177: 35093177
36 PIGO NM_032634.3(PIGO): c.969T> G (p.Leu323=) single nucleotide variant Likely benign rs142658052 GRCh38 Chromosome 9, 35093180: 35093180
37 PIGO NM_032634.3(PIGO): c.2432G> A (p.Arg811Gln) single nucleotide variant Benign rs75579358 GRCh37 Chromosome 9, 35091452: 35091452
38 PIGO NM_032634.3(PIGO): c.2432G> A (p.Arg811Gln) single nucleotide variant Benign rs75579358 GRCh38 Chromosome 9, 35091455: 35091455
39 PIGO NM_032634.3(PIGO): c.1473G> C (p.Leu491=) single nucleotide variant Benign rs76932500 GRCh37 Chromosome 9, 35092411: 35092411
40 PIGO NM_032634.3(PIGO): c.1473G> C (p.Leu491=) single nucleotide variant Benign rs76932500 GRCh38 Chromosome 9, 35092414: 35092414
41 PIGO NM_032634.3(PIGO): c.2908C> T (p.Arg970Trp) single nucleotide variant Uncertain significance rs748546962 GRCh37 Chromosome 9, 35090224: 35090224
42 PIGO NM_032634.3(PIGO): c.2908C> T (p.Arg970Trp) single nucleotide variant Uncertain significance rs748546962 GRCh38 Chromosome 9, 35090227: 35090227
43 PIGO NM_032634.3(PIGO): c.1013G> A (p.Gly338Glu) single nucleotide variant Uncertain significance rs749274989 GRCh37 Chromosome 9, 35093133: 35093133
44 PIGO NM_032634.3(PIGO): c.1013G> A (p.Gly338Glu) single nucleotide variant Uncertain significance rs749274989 GRCh38 Chromosome 9, 35093136: 35093136
45 PIGO NM_032634.3(PIGO): c.3103C> T (p.Arg1035Cys) single nucleotide variant Uncertain significance rs376829041 GRCh37 Chromosome 9, 35089414: 35089414
46 PIGO NM_032634.3(PIGO): c.3103C> T (p.Arg1035Cys) single nucleotide variant Uncertain significance rs376829041 GRCh38 Chromosome 9, 35089417: 35089417
47 PIGO NM_032634.3(PIGO): c.2648-1G> A single nucleotide variant Likely pathogenic rs755750516 GRCh38 Chromosome 9, 35090673: 35090673
48 PIGO NM_032634.3(PIGO): c.2648-1G> A single nucleotide variant Likely pathogenic rs755750516 GRCh37 Chromosome 9, 35090670: 35090670
49 covers 39 genes, none of which curated to show dosage sensitivity NC_000009.11: g.(?_34458984)_(35809462_?)dup duplication Uncertain significance GRCh37 Chromosome 9, 34458984: 35809462
50 PIGO NM_032634.3(PIGO): c.1758C> T (p.Val586=) single nucleotide variant Likely benign rs144103228 GRCh38 Chromosome 9, 35092129: 35092129

Expression for Hyperphosphatasia with Mental Retardation Syndrome 2

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