MCID: HYP697
MIFTS: 25

Hyperphosphatasia with Mental Retardation Syndrome 6

Categories: Genetic diseases, Neuronal diseases, Mental diseases

Aliases & Classifications for Hyperphosphatasia with Mental Retardation Syndrome 6

MalaCards integrated aliases for Hyperphosphatasia with Mental Retardation Syndrome 6:

Name: Hyperphosphatasia with Mental Retardation Syndrome 6 57 75 29 6
Hpmrs6 57 75
Hyperphosphatasia with Mental Retardation Syndrome, Type 6 ) 40
Glycosylphosphatidylinositol Biosynthesis Defect 12; Gpibd12 57
Glycosylphosphatidylinositol Biosynthesis Defect 12 57
Gpibd12 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
two unrelated families have been reported (last curated february 2016)
family a had a severe multisystem disorder resulting in death before age 2 years
family b had a milder phenotype


HPO:

32
hyperphosphatasia with mental retardation syndrome 6:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hyperphosphatasia with Mental Retardation Syndrome 6

OMIM : 57 Hyperphosphatasia with mental retardation syndrome-6 (HPMRS6) is an autosomal recessive multisystem disorder characterized by global developmental delay, dysmorphic features, seizures, and congenital cataracts. Severity is variable, and the disorder may show a range of phenotypic and biochemical abnormalities, including increased serum alkaline phosphatase levels (summary by Ilkovski et al., 2015). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis. For a discussion of genetic heterogeneity of HPMRS, see HPMRS1 (239300). For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293). (616809)

MalaCards based summary : Hyperphosphatasia with Mental Retardation Syndrome 6, is also known as hpmrs6. An important gene associated with Hyperphosphatasia with Mental Retardation Syndrome 6 is PIGY (Phosphatidylinositol Glycan Anchor Biosynthesis Class Y). Affiliated tissues include eye, and related phenotypes are inguinal hernia and wide mouth

UniProtKB/Swiss-Prot : 75 Hyperphosphatasia with mental retardation syndrome 6: An autosomal recessive, multisystem disorder characterized by severe developmental delay, dysmorphism, seizures, cataracts, and early death in some patients.

Related Diseases for Hyperphosphatasia with Mental Retardation Syndrome 6

Symptoms & Phenotypes for Hyperphosphatasia with Mental Retardation Syndrome 6

Symptoms via clinical synopsis from OMIM:

57
Skeletal Pelvis:
hip dysplasia

Head And Neck Eyes:
deep-set eyes (family a)
congenital cataracts (family a)
cerebral visual impairment (family a)
long palpebral fissures (family b)
strabismus (family b)

Head And Neck Head:
microcephaly (-3 to -5 sd) (family b)

Head And Neck Nose:
depressed nasal bridge (family a)
upturned nares (family a)
bulbous nasal tip (family b)

Head And Neck Neck:
short neck (family a)

Genitourinary Kidneys:
renal dilatation (1 patient in family a)
increased echogenicity of the renal parenchyma (1 patient in family a)

Skeletal Limbs:
proximal limb shortening (family a)

Muscle Soft Tissue:
truncal hypotonia (family a)
muscle biopsy shows variation in fiber size (family a)
rounded, atrophic fibers (family a)
increased fibrosis (family a)

Neurologic Behavioral Psychiatric Manifestations:
poor attention (family b)
hyperactivity (family b)
aggressive outbursts (family b)

Laboratory Abnormalities:
increased serum creatine kinase (family a)
increased alkaline phosphatase (family a)
decreased expression of gpi-anchored proteins on fibroblasts (family a)

Head And Neck Face:
bitemporal narrowing (family a)

Growth Other:
poor growth (family a)

Head And Neck Ears:
thickened helices (family a)
fleshy earlobes (family a)

Head And Neck Mouth:
high-arched palate (family a)
wide mouth (family b)

Abdomen Gastrointestinal:
poor feeding (family a)
abdominal distress (family a)

Skeletal:
joint contractures (family a)
osteopenia (family a)

Skeletal Hands:
brachyphalangy (family a)
clinodactyly (family a)

Neurologic Central Nervous System:
truncal hypotonia (family a)
delayed psychomotor development (family b)
delayed speech (family b)
developmental regression (family a)
seizures, intractable (family a)

Prenatal Manifestations Amniotic Fluid:
polyhydramnios (1 patient in family a)


Clinical features from OMIM:

616809

Human phenotypes related to Hyperphosphatasia with Mental Retardation Syndrome 6:

32 (show all 39)
# Description HPO Frequency HPO Source Accession
1 inguinal hernia 32 HP:0000023
2 wide mouth 32 HP:0000154
3 high palate 32 HP:0000218
4 microcephaly 32 HP:0000252
5 narrow forehead 32 HP:0000341
6 thickened helices 32 HP:0000391
7 bulbous nose 32 HP:0000414
8 anteverted nares 32 HP:0000463
9 short neck 32 HP:0000470
10 strabismus 32 HP:0000486
11 deeply set eye 32 HP:0000490
12 congenital cataract 32 HP:0000519
13 long palpebral fissure 32 HP:0000637
14 delayed speech and language development 32 HP:0000750
15 hyperactivity 32 HP:0000752
16 osteopenia 32 HP:0000938
17 seizures 32 HP:0001250
18 global developmental delay 32 HP:0001263
19 hip dysplasia 32 HP:0001385
20 growth delay 32 HP:0001510
21 polyhydramnios 32 HP:0001561
22 vomiting 32 HP:0002013
23 developmental regression 32 HP:0002376
24 elbow flexion contracture 32 HP:0002987
25 elevated alkaline phosphatase 32 HP:0003155
26 elevated serum creatine phosphokinase 32 HP:0003236
27 hip contracture 32 HP:0003273
28 2-3 toe syndactyly 32 HP:0004691
29 prominent nasal tip 32 HP:0005274
30 depressed nasal bridge 32 HP:0005280
31 shortening of all distal phalanges of the fingers 32 HP:0006118
32 knee flexion contracture 32 HP:0006380
33 muscular hypotonia of the trunk 32 HP:0008936
34 large earlobe 32 HP:0009748
35 limb undergrowth 32 HP:0009826
36 eeg with multifocal slow activity 32 HP:0010844
37 echogenic fetal bowel 32 HP:0010943
38 feeding difficulties 32 HP:0011968
39 clinodactyly 32 HP:0030084

Drugs & Therapeutics for Hyperphosphatasia with Mental Retardation Syndrome 6

Search Clinical Trials , NIH Clinical Center for Hyperphosphatasia with Mental Retardation Syndrome 6

Genetic Tests for Hyperphosphatasia with Mental Retardation Syndrome 6

Genetic tests related to Hyperphosphatasia with Mental Retardation Syndrome 6:

# Genetic test Affiliating Genes
1 Hyperphosphatasia with Mental Retardation Syndrome 6 29 PIGY

Anatomical Context for Hyperphosphatasia with Mental Retardation Syndrome 6

MalaCards organs/tissues related to Hyperphosphatasia with Mental Retardation Syndrome 6:

41
Eye

Publications for Hyperphosphatasia with Mental Retardation Syndrome 6

Variations for Hyperphosphatasia with Mental Retardation Syndrome 6

UniProtKB/Swiss-Prot genetic disease variations for Hyperphosphatasia with Mental Retardation Syndrome 6:

75
# Symbol AA change Variation ID SNP ID
1 PIGY p.Leu46Pro VAR_076351 rs869025322

ClinVar genetic disease variations for Hyperphosphatasia with Mental Retardation Syndrome 6:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PIGY NM_001042616.2(PIGY): c.137T> C (p.Leu46Pro) single nucleotide variant Pathogenic rs869025322 GRCh37 Chromosome 4, 89442804: 89442804
2 PIGY NM_001042616.2(PIGY): c.137T> C (p.Leu46Pro) single nucleotide variant Pathogenic rs869025322 GRCh38 Chromosome 4, 88521653: 88521653
3 PIGY NM_001042616.2(PIGY): c.-540G> A single nucleotide variant Pathogenic rs869025323 GRCh37 Chromosome 4, 89444948: 89444948
4 PIGY NM_001042616.2(PIGY): c.-540G> A single nucleotide variant Pathogenic rs869025323 GRCh38 Chromosome 4, 88523797: 88523797

Expression for Hyperphosphatasia with Mental Retardation Syndrome 6

Search GEO for disease gene expression data for Hyperphosphatasia with Mental Retardation Syndrome 6.

Pathways for Hyperphosphatasia with Mental Retardation Syndrome 6

GO Terms for Hyperphosphatasia with Mental Retardation Syndrome 6

Cellular components related to Hyperphosphatasia with Mental Retardation Syndrome 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 8.96 PIGY PYURF
2 glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex GO:0000506 8.62 PIGY PYURF

Biological processes related to Hyperphosphatasia with Mental Retardation Syndrome 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 GPI anchor biosynthetic process GO:0006506 8.62 PIGY PYURF

Sources for Hyperphosphatasia with Mental Retardation Syndrome 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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