HPMR
MCID: HYP441
MIFTS: 43

Hyperphosphatasia with Mental Retardation Syndrome 1 (HPMR) malady

Genetic diseases, Neuronal diseases, Bone diseases, Metabolic diseases, Fetal diseases, Rare diseases, Mental diseases categories
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Summaries for Hyperphosphatasia with Mental Retardation Syndrome 1

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MalaCards based summary: Hyperphosphatasia with Mental Retardation Syndrome 1, also known as mabry syndrome, is related to mabry syndrome and hyperphosphatasia with mental retardation syndrome, and has symptoms including An important gene associated with Hyperphosphatasia with Mental Retardation Syndrome 1 is PIGV (phosphatidylinositol glycan anchor biosynthesis, class V), and among its related pathways are Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein and Post-translational modification- synthesis of GPI-anchored proteins. The compounds Ganglioside GQ1c (d18:0/14:0) and Ganglioside GT1b (d18:0/18:0) have been mentioned in the context of this disorder. Affiliated tissues include bone.

Descriptions from OMIM:46 239300,614207,614749,615716,616025

Aliases & Classifications for Hyperphosphatasia with Mental Retardation Syndrome 1

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Hyperphosphatasia with Mental Retardation Syndrome 1, Aliases & Descriptions:

Name: Hyperphosphatasia with Mental Retardation Syndrome 1 20 22 46 62
Mabry Syndrome 48 62
 
Hyperphosphatasia-Intellectual Disability Syndrome 48
Hpmr 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
mabry syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


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Related Diseases for Hyperphosphatasia with Mental Retardation Syndrome 1

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Symptoms for Hyperphosphatasia with Mental Retardation Syndrome 1

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Symptoms by clinical synopsis from OMIM:

239300

Clinical features from OMIM:

239300,614207,614749,615716,616025

HPO human phenotypes related to Hyperphosphatasia with Mental Retardation Syndrome 1:

(show all 35)
id Description Frequency HPO Source Accession
1 absent speech hallmark (90%) HP:0001344
2 thin upper lip vermilion common (75%) HP:0000219
3 posteriorly rotated ears common (75%) HP:0000358
4 upslanted palpebral fissure common (75%) HP:0000582
5 long palpebral fissure common (75%) HP:0000637
6 large eyes common (75%) HP:0001090
7 small nail common (75%) HP:0001792
8 intellectual disability 7% HP:0001249
9 elevated alkaline phosphatase 7% HP:0003155
10 short distal phalanx of finger 7% HP:0009882
11 hypertelorism 6% HP:0000316
12 wide nasal bridge 6% HP:0000431
13 broad nasal tip 6% HP:0000455
14 downturned corners of mouth 6% HP:0002714
15 cleft palate rare (5%) HP:0000175
16 muscular hypotonia rare (5%) HP:0001252
17 short toe rare (5%) HP:0001831
18 seizures 3% HP:0001250
19 sensorineural hearing impairment 2% HP:0000407
20 delayed ossification of carpal bones 2% HP:0001216
21 anteriorly placed anus 2% HP:0001545
22 constipation 2% HP:0002019
23 cleft upper lip very rare (1%) HP:0000204
24 hydrocephalus very rare (1%) HP:0000238
25 aganglionic megacolon very rare (1%) HP:0002251
26 autosomal recessive inheritance HP:0000007
27 malar flattening HP:0000272
28 mandibular prognathia HP:0000303
29 short philtrum HP:0000322
30 tapered finger HP:0001182
31 plagiocephaly HP:0001357
32 highly arched eyebrow HP:0002553
33 tented upper lip vermilion HP:0010804
34 intellectual disability, severe HP:0010864
35 midface retrusion HP:0011800

Drugs & Therapeutics for Hyperphosphatasia with Mental Retardation Syndrome 1

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Drug clinical trials:

Search ClinicalTrials for Hyperphosphatasia with Mental Retardation Syndrome 1

Search NIH Clinical Center for Hyperphosphatasia with Mental Retardation Syndrome 1

Genetic Tests for Hyperphosphatasia with Mental Retardation Syndrome 1

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Genetic tests related to Hyperphosphatasia with Mental Retardation Syndrome 1:

id Genetic test Affiliating Genes
1 Hyperphosphatasia with Mental Retardation Syndrome 120 22 PIGV

Anatomical Context for Hyperphosphatasia with Mental Retardation Syndrome 1

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MalaCards organs/tissues related to Hyperphosphatasia with Mental Retardation Syndrome 1:

32
Bone

Animal Models for Hyperphosphatasia with Mental Retardation Syndrome 1 or affiliated genes

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Publications for Hyperphosphatasia with Mental Retardation Syndrome 1

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Variations for Hyperphosphatasia with Mental Retardation Syndrome 1

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UniProtKB/Swiss-Prot genetic disease variations for Hyperphosphatasia with Mental Retardation Syndrome 1:

64
id Symbol AA change Variation ID SNP ID
1PIGVp.Gln256LysVAR_064190
2PIGVp.Ala341GluVAR_064191
3PIGVp.Ala341ValVAR_064192
4PIGVp.His385ProVAR_064193

Clinvar genetic disease variations for Hyperphosphatasia with Mental Retardation Syndrome 1:

6 (show all 18)
id Gene Name Type Significance SNP ID Assembly Location
1PGAP3NM_033419.4(PGAP3): c.275G> A (p.Gly92Asp)single nucleotide variantPathogenicGRCh37Chr 17, 37842179: 37842179
2PGAP3PGAP3, 1-BP DUP, 439CduplicationPathogenic
3PGAP3NM_033419.4(PGAP3): c.914A> G (p.Asp305Gly)single nucleotide variantPathogenicGRCh37Chr 17, 37829105: 37829105
4PGAP3NM_033419.4(PGAP3): c.314C> G (p.Pro105Arg)single nucleotide variantPathogenicGRCh37Chr 17, 37840968: 37840968
5PIGVNM_017837.3(PIGV): c.1022C> A (p.Ala341Glu)single nucleotide variantPathogenicrs139073416GRCh37Chr 1, 27121547: 27121547
6PIGVNM_017837.3(PIGV): c.1154A> C (p.His385Pro)single nucleotide variantPathogenicrs267606951GRCh37Chr 1, 27121679: 27121679
7PIGVNM_017837.3(PIGV): c.766C> A (p.Gln256Lys)single nucleotide variantPathogenicrs267606952GRCh37Chr 1, 27121291: 27121291
8PIGVNM_017837.3(PIGV): c.1022C> T (p.Ala341Val)single nucleotide variantPathogenicrs139073416GRCh37Chr 1, 27121547: 27121547
9PIGVNM_017837.3(PIGV): c.494C> A (p.Ala165Glu)single nucleotide variantPathogenicGRCh37Chr 1, 27121019: 27121019
10PIGVNM_017837.3(PIGV): c.467G> A (p.Cys156Tyr)single nucleotide variantPathogenicrs387907023GRCh37Chr 1, 27120992: 27120992
11PIGONM_032634.3(PIGO): c.2869C> T (p.Leu957Phe)single nucleotide variantPathogenicrs142164373GRCh37Chr 9, 35090263: 35090263
12PIGOPIGO, 1-BP DUP, 2361CduplicationPathogenic
13PIGOPIGO, IVS8DS, G-A, +5single nucleotide variantPathogenic
14PGAP2PGAP2, TYR99CYSsingle nucleotide variantPathogenic
15PGAP2PGAP2, ARG177PROsingle nucleotide variantPathogenic
16PGAP2PGAP2, LEU127SERsingle nucleotide variantPathogenic
17PGAP2PGAP2, ARG16TRPundetermined variantPathogenic
18PGAP2NM_001145438.2(PGAP2): c.479C> T (p.Thr160Ile)single nucleotide variantPathogenicGRCh37Chr 11, 3845255: 3845255

Expression for genes affiliated with Hyperphosphatasia with Mental Retardation Syndrome 1

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Expression patterns in normal tissues for genes affiliated with Hyperphosphatasia with Mental Retardation Syndrome 1

Search GEO for disease gene expression data for Hyperphosphatasia with Mental Retardation Syndrome 1.

Pathways for genes affiliated with Hyperphosphatasia with Mental Retardation Syndrome 1

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Pathways related to Hyperphosphatasia with Mental Retardation Syndrome 1 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
8.7PIGV, PIGO, PIGW
2
Show member pathways
8.7PIGV, PIGO, PIGW

Compounds for genes affiliated with Hyperphosphatasia with Mental Retardation Syndrome 1

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Compounds related to Hyperphosphatasia with Mental Retardation Syndrome 1 according to GeneCards/GeneDecks:

(show top 50)    (show all 898)
idCompoundScoreTop Affiliating Genes
1Ganglioside GQ1c (d18:0/14:0)249.1PIGV, PIGO, PIGW
2Ganglioside GT1b (d18:0/18:0)249.1PIGW, PIGO, PIGV
3Ganglioside GT1b (d18:0/18:1(11Z))249.1PIGV, PIGO, PIGW
4Ganglioside GT1b (d18:1/18:0)249.1PIGV, PIGO, PIGW
5Ganglioside GT1b (d18:1/18:1(11Z))249.1PIGV, PIGO, PIGW
6Ganglioside GT1b (d18:1/18:1(9Z))249.1PIGV, PIGO, PIGW
7Ganglioside GT1c (d18:0/18:1(11Z))249.1PIGV, PIGO, PIGW
8Ganglioside GT1b (d18:0/16:0)249.1PIGW, PIGV, PIGO
9Ganglioside GQ1c (d18:0/16:0)249.1PIGV, PIGO, PIGW
10Ganglioside GQ1c (d18:1/14:0)249.1PIGV, PIGO, PIGW
11Ganglioside GQ1c (d18:1/16:0)249.1PIGV, PIGO, PIGW
12Ganglioside GQ1c (d18:1/18:0)249.1PIGV, PIGO, PIGW
13Ganglioside GT1c (d18:0/18:1(9Z))249.1PIGV, PIGO, PIGW
14Ganglioside GT2 (d18:1/22:0)249.1PIGO, PIGW, PIGV
15Ganglioside GT2 (d18:1/22:1(13Z))249.1PIGV, PIGO, PIGW
16Ganglioside GT3 (d18:0/22:1(13Z))249.1PIGV, PIGO, PIGW
17Ganglioside GT3 (d18:0/23:0)249.1PIGV, PIGO, PIGW
18Ganglioside GT3 (d18:1/23:0)249.1PIGV, PIGO, PIGW
19Ganglioside GT3 (d18:1/24:0)249.1PIGV, PIGO, PIGW
20Ganglioside GT2 (d18:0/22:0)249.1PIGW, PIGO, PIGV
21Ganglioside GT1c (d18:0/20:0)249.1PIGV, PIGO, PIGW
22Ganglioside GT1c (d18:1/18:1(9Z))249.1PIGV, PIGO, PIGW
23Ganglioside GT1c (d18:1/20:0)249.1PIGV, PIGO, PIGW
24Ganglioside GT1c (d18:1/22:0)249.1PIGV, PIGO, PIGW
25Ganglioside GT2 (d18:0/20:0)249.0PIGV, PIGO, PIGW
26Ganglioside GD1a (d18:0/16:0)249.0PIGV, PIGO, PIGW
27Ganglioside GD1b (d18:0/18:1(11Z))249.0PIGW, PIGO, PIGV
28Ganglioside GD1b (d18:0/18:1(9Z))249.0PIGV, PIGO, PIGW
29Ganglioside GD1b (d18:0/20:0)249.0PIGV, PIGO, PIGW
30Ganglioside GD1b (d18:1/18:1(9Z))249.0PIGV, PIGO, PIGW
31Ganglioside GD1b (d18:1/20:0)249.0PIGV, PIGO, PIGW
32Ganglioside GD1b (d18:1/22:0)249.0PIGV, PIGO, PIGW
33Ganglioside GD1a (d18:1/18:1(9Z))249.0PIGW, PIGV, PIGO
34Ganglioside GD1a (d18:0/18:0)249.0PIGV, PIGO, PIGW
35Ganglioside GD1a (d18:0/18:1(11Z))249.0PIGV, PIGO, PIGW
36Ganglioside GD1a (d18:1/18:0)249.0PIGV, PIGO, PIGW
37Ganglioside GD1a (d18:1/18:1(11Z))249.0PIGV, PIGO, PIGW
38Ganglioside GD2 (d18:0/20:0)248.9PIGV, PIGO, PIGW
39Ganglioside GD3 (d18:0/23:0)248.9PIGO, PIGW, PIGV
40Ganglioside GD3 (d18:0/24:0)248.9PIGV, PIGO, PIGW
41Ganglioside GM3 (d18:0/12:0)248.9PIGV, PIGO, PIGW
42Ganglioside GM3 (d18:0/26:1(17Z))248.9PIGV, PIGO, PIGW
43Ganglioside GM3 (d18:1/14:0)248.9PIGV, PIGO, PIGW
44Ganglioside GQ1c (d18:0/12:0)248.8PIGV, PIGO, PIGW
45Ganglioside GD3 (d18:0/22:1(13Z))248.8PIGW, PIGO, PIGV
46Ganglioside GD2 (d18:0/22:0)248.7PIGV, PIGO, PIGW
47Ganglioside GD2 (d18:0/22:1(13Z))248.7PIGV, PIGO, PIGW
48Ganglioside GD2 (d18:1/24:0)248.7PIGV, PIGO, PIGW
49Ganglioside GD2 (d18:1/22:1(13Z))248.6PIGV, PIGO, PIGW
50Ganglioside GD2 (d18:1/23:0)248.4PIGV, PIGO, PIGW

GO Terms for genes affiliated with Hyperphosphatasia with Mental Retardation Syndrome 1

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Cellular components related to Hyperphosphatasia with Mental Retardation Syndrome 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum membraneGO:0057897.8PGAP2, PIGV, PIGO, PIGW
2integral component of membraneGO:0160217.5PGAP3, PGAP2, PIGV, PIGO, PIGW

Biological processes related to Hyperphosphatasia with Mental Retardation Syndrome 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1preassembly of GPI anchor in ER membraneGO:0162548.7PIGO, PIGW, PIGV
2cellular protein metabolic processGO:0442678.7PIGV, PIGO, PIGW
3C-terminal protein lipidationGO:0065018.6PIGV, PIGW, PIGO
4post-translational protein modificationGO:0436878.4PIGV, PIGO, PIGW
5GPI anchor biosynthetic processGO:0065068.1PGAP3, PGAP2, PIGV, PIGO

Products for genes affiliated with Hyperphosphatasia with Mental Retardation Syndrome 1

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  • Antibodies
  • Proteins
  • Lysates

Sources for Hyperphosphatasia with Mental Retardation Syndrome 1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet