HPMRS6
MCID: HYP697
MIFTS: 23

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 57 74 29 6
Hpmrs6 57 74
Glycosylphosphatidylinositol Biosynthesis Defect 12; Gpibd12 57
Hyperphosphatasia with Mental Retardation Syndrome, Type 6 40
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:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

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 short neck and clinodactyly

UniProtKB/Swiss-Prot : 74 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:

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

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

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

Articles related to Hyperphosphatasia with Mental Retardation Syndrome 6:

# Title Authors PMID Year
1
Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies. 8 71
26293662 2015

Variations for Hyperphosphatasia with Mental Retardation Syndrome 6

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

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

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

74
# Symbol AA change Variation ID SNP ID
1 PIGY p.Leu46Pro VAR_076351 rs869025322

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 PYURF PIGY
2 glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex GO:0000506 8.62 PYURF PIGY

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 PYURF PIGY

Sources for Hyperphosphatasia with Mental Retardation Syndrome 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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