HPMRS6
MCID: HYP697
MIFTS: 25

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 56 73 29 6
Hpmrs6 56 73
Glycosylphosphatidylinositol Biosynthesis Defect 12; Gpibd12 56
Hyperphosphatasia with Mental Retardation Syndrome, Type 6 39
Glycosylphosphatidylinositol Biosynthesis Defect 12 56
Gpibd12 56

Characteristics:

OMIM:

56
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:

31
hyperphosphatasia with mental retardation syndrome 6:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



Summaries for Hyperphosphatasia with Mental Retardation Syndrome 6

OMIM : 56 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 : 73 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:

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

Symptoms via clinical synopsis from OMIM:

56
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:

40
Eye

Publications for Hyperphosphatasia with Mental Retardation Syndrome 6

Articles related to Hyperphosphatasia with Mental Retardation Syndrome 6:

(showing 1, show less)
# Title Authors PMID Year
1
Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies. 56 6
26293662 2015

Variations for Hyperphosphatasia with Mental Retardation Syndrome 6

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

6 (showing 2, show less) ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PIGY NM_032906.5(PYURF):c.*235T>CSNV Pathogenic 222024 rs869025322 4:89442804-89442804 4:88521653-88521653
2 PIGY NM_001042616.2(PIGY):c.-540G>ASNV Pathogenic 222025 rs869025323 4:89444948-89444948 4:88523797-88523797

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

73 (showing 1, show less)
# 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:

(showing 2, show less)
# 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:

(showing 1, show less)
# 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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