MCID: HYP442
MIFTS: 21

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 54 24 71 29 13 69
Hpmrs2 24 71
Glycosylphosphatidylinositol Biosynthesis Defect 6 71
Gpibd6 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive

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


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 : 54
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 hpmrs2, and has symptoms including ventriculomegaly, seizures and microcephaly. 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:

54

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

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

Skeletal- Feet:
broad halluces
brachytelephalangy

Genitourinary- Bladder:
vesicoureteral reflux (1 patient)

Head And Neck- Head:
microcephaly (1 patient)

Cardiovascular- Heart:
atrial septal defect (1 patient)

Skeletal- Hands:
brachytelephalangy

Head And Neck- Eyes:
hypertelorism
long palpebral fissures

Growth- Other:
poor growth

Laboratory- Abnormalities:
increased serum alkaline phosphatase
hyperphosphatasia

Abdomen- Gastroin testinal:
anal stenosis
anal atresia

Head And Neck- Mouth:
tented mouth

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

32 (show all 21)
id Description HPO Frequency HPO Source Accession
1 ventriculomegaly 32 occasional (7.5%) HP:0002119
2 seizures 32 occasional (7.5%) HP:0001250
3 microcephaly 32 occasional (7.5%) HP:0000252
4 hypertelorism 32 HP:0000316
5 atrial septal defect 32 occasional (7.5%) HP:0001631
6 short nose 32 HP:0003196
7 broad nasal tip 32 HP:0000455
8 intellectual disability 32 HP:0001249
9 wide nasal bridge 32 HP:0000431
10 vesicoureteral reflux 32 occasional (7.5%) HP:0000076
11 broad hallux 32 HP:0010055
12 plagiocephaly 32 occasional (7.5%) HP:0001357
13 muscular hypotonia 32 HP:0001252
14 anal stenosis 32 HP:0002025
15 anal atresia 32 HP:0002023
16 elevated alkaline phosphatase 32 HP:0003155
17 delayed speech and language development 32 HP:0000750
18 growth delay 32 HP:0001510
19 long palpebral fissure 32 HP:0000637
20 tented upper lip vermilion 32 HP:0010804
21 shortening of all distal phalanges of the fingers 32 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:

id Genetic test Affiliating Genes
1 Hyperphosphatasia with Mental Retardation Syndrome 2 29 24 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
id Symbol AA change Variation ID SNP ID
1 PIGO p.Leu957Phe VAR_068809 rs142164373

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

6
id 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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10 dbSNP
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59 PubMed
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65 SNOMED-CT via HPO
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70 UMLS via Orphanet
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