HPMRS6
MCID: HYP697
MIFTS: 26

Hyperphosphatasia with Mental Retardation Syndrome 6 (HPMRS6)

Categories: Genetic diseases, Mental diseases, Neuronal 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 58 76 30 6
Hpmrs6 58 76
Hyperphosphatasia with Mental Retardation Syndrome, Type 6 ) 41
Glycosylphosphatidylinositol Biosynthesis Defect 12; Gpibd12 58
Glycosylphosphatidylinositol Biosynthesis Defect 12 58
Gpibd12 58

Characteristics:

OMIM:

58
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:

33
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 : 58 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 short neck and clinodactyly

UniProtKB/Swiss-Prot : 76 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

Human phenotypes related to Hyperphosphatasia with Mental Retardation Syndrome 6:

33 (show all 46)
# Description HPO Frequency HPO Source Accession
1 short neck 33 HP:0000470
2 clinodactyly 33 HP:0030084
3 high palate 33 HP:0000218
4 osteopenia 33 HP:0000938
5 seizures 33 HP:0001250
6 developmental regression 33 HP:0002376
7 inguinal hernia 33 HP:0000023
8 global developmental delay 33 HP:0001263
9 hip dysplasia 33 HP:0001385
10 depressed nasal bridge 33 HP:0005280
11 delayed speech and language development 33 HP:0000750
12 microcephaly 33 HP:0000252
13 anteverted nares 33 HP:0000463
14 flexion contracture 33 HP:0001371
15 vomiting 33 HP:0002013
16 abdominal pain 33 HP:0002027
17 feeding difficulties 33 HP:0011968
18 strabismus 33 HP:0000486
19 growth delay 33 HP:0001510
20 elbow flexion contracture 33 HP:0002987
21 wide mouth 33 HP:0000154
22 deeply set eye 33 HP:0000490
23 aggressive behavior 33 HP:0000718
24 polyhydramnios 33 HP:0001561
25 bulbous nose 33 HP:0000414
26 long palpebral fissure 33 HP:0000637
27 thickened helices 33 HP:0000391
28 hip contracture 33 HP:0003273
29 large earlobe 33 HP:0009748
30 hyperactivity 33 HP:0000752
31 knee flexion contracture 33 HP:0006380
32 2-3 toe syndactyly 33 HP:0004691
33 prominent nasal tip 33 HP:0005274
34 elevated alkaline phosphatase 33 HP:0003155
35 muscular hypotonia of the trunk 33 HP:0008936
36 limb undergrowth 33 HP:0009826
37 cerebral visual impairment 33 HP:0100704
38 narrow forehead 33 HP:0000341
39 short attention span 33 HP:0000736
40 eeg with multifocal slow activity 33 HP:0010844
41 elevated serum creatine kinase 33 HP:0003236
42 dilatation 33 HP:0002617
43 shortening of all distal phalanges of the fingers 33 HP:0006118
44 abnormal renal collecting system morphology 33 HP:0004742
45 developmental cataract 33 HP:0000519
46 echogenic fetal bowel 33 HP:0010943

Symptoms via clinical synopsis from OMIM:

58
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

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 30 PIGY

Anatomical Context for Hyperphosphatasia with Mental Retardation Syndrome 6

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

42
Eye

Publications for Hyperphosphatasia with Mental Retardation Syndrome 6

Articles related to Hyperphosphatasia with Mental Retardation Syndrome 6:

# Title Authors Year
1
Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies. ( 26293662 )
2015

Variations for Hyperphosphatasia with Mental Retardation Syndrome 6

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

76
# 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 EFO
18 ExPASy
20 FMA
29 GO
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63 PubMed
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70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
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74 UMLS
75 UMLS via Orphanet
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