MCID: HYP442
MIFTS: 21

Hyperphosphatasia with Mental Retardation Syndrome 2

Categories: Genetic diseases, Mental diseases, Neuronal 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 53 71 28 13 69
Glycosylphosphatidylinositol Biosynthesis Defect 6 53 71
Hpmrs2 53 71
Gpibd6 53 71
Glycosylphosphatidylinositol Biosynthesis Defect 6; Gpibd6 53

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
three patients (2 sisters and 1 unrelated female) have been reported (last curated july 2012)


HPO:

31
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 : 53 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, and has symptoms including seizures, hypertelorism and intellectual disability. An important gene associated with Hyperphosphatasia with Mental Retardation Syndrome 2 is PIGO (Phosphatidylinositol Glycan Anchor Biosynthesis Class O).

UniProtKB/Swiss-Prot : 71 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:

53
Head And Neck Eyes:
hypertelorism
long palpebral fissures

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

Skeletal Hands:
brachytelephalangy

Laboratory Abnormalities:
increased serum alkaline phosphatase
hyperphosphatasia

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

Cardiovascular Heart:
atrial septal defect (1 patient)

Genitourinary Bladder:
vesicoureteral reflux (1 patient)

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

Abdomen Gastroin testinal:
anal atresia
anal stenosis

Skeletal Feet:
brachytelephalangy
broad halluces

Growth Other:
poor growth

Head And Neck Mouth:
tented mouth

Head And Neck Head:
microcephaly (1 patient)

Skin Nails Hair Nails:
hypoplastic or absent nails


Clinical features from OMIM:

614749

Human phenotypes related to Hyperphosphatasia with Mental Retardation Syndrome 2:

31 (show all 21)
# Description HPO Frequency HPO Source Accession
1 seizures 31 occasional (7.5%) HP:0001250
2 hypertelorism 31 HP:0000316
3 intellectual disability 31 HP:0001249
4 wide nasal bridge 31 HP:0000431
5 delayed speech and language development 31 HP:0000750
6 short nose 31 HP:0003196
7 microcephaly 31 occasional (7.5%) HP:0000252
8 growth delay 31 HP:0001510
9 atrial septal defect 31 occasional (7.5%) HP:0001631
10 ventriculomegaly 31 occasional (7.5%) HP:0002119
11 anal atresia 31 HP:0002023
12 broad nasal tip 31 HP:0000455
13 vesicoureteral reflux 31 occasional (7.5%) HP:0000076
14 long palpebral fissure 31 HP:0000637
15 anterior plagiocephaly 31 occasional (7.5%) HP:0011326
16 tented upper lip vermilion 31 HP:0010804
17 anal stenosis 31 HP:0002025
18 generalized hypotonia 31 HP:0001290
19 elevated alkaline phosphatase 31 HP:0003155
20 broad hallux 31 HP:0010055
21 shortening of all distal phalanges of the fingers 31 HP:0006118

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 28 PIGO

Anatomical Context for Hyperphosphatasia with Mental Retardation Syndrome 2

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:

71
# 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
# 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.2361dupC duplication Pathogenic/Likely pathogenic rs770591449 GRCh37 Chromosome 9, 35091523: 35091523
3 PIGO NM_032634.3(PIGO): c.3069+5G> A single nucleotide variant Pathogenic rs368953604 GRCh37 Chromosome 9, 35090058: 35090058
4 PIGO NM_032634.3(PIGO): c.1810dupC (p.Arg604Profs) duplication Pathogenic rs774508288 GRCh37 Chromosome 9, 35092074: 35092074

Expression for Hyperphosphatasia with Mental Retardation Syndrome 2

Search GEO for disease gene expression data for Hyperphosphatasia with Mental Retardation Syndrome 2.

Pathways for Hyperphosphatasia with Mental Retardation Syndrome 2

GO Terms for Hyperphosphatasia with Mental Retardation Syndrome 2

Sources for Hyperphosphatasia with Mental Retardation Syndrome 2

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58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
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70 UMLS via Orphanet
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