HPMRS1
MCID: HYP441
MIFTS: 26

Hyperphosphatasia with Mental Retardation Syndrome 1 (HPMRS1) malady

Categories: Genetic diseases, Neuronal diseases, Mental diseases

Aliases & Classifications for Hyperphosphatasia with Mental Retardation Syndrome 1

Aliases & Descriptions for Hyperphosphatasia with Mental Retardation Syndrome 1:

Name: Hyperphosphatasia with Mental Retardation Syndrome 1 54 24 66 29 13
Mabry Syndrome 24 25 66
Hyperphosphatasia with Seizures and Neurologic Deficit 25
Hyperphosphatasia with Mental Retardation Syndrome 25
Glycosylphosphatidylinositol Biosynthesis Defect 2 66
Hyperphosphatasia with Mental Retardation 69
Gpibd2 66
Hpmrs1 66

Characteristics:

HPO:

32
hyperphosphatasia with mental retardation syndrome 1:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 239300
MedGen 40 C1855923

Summaries for Hyperphosphatasia with Mental Retardation Syndrome 1

OMIM : 54 Hyperphosphatasia with mental retardation syndrome-1 is an autosomal recessive disorder characterized by mental... (239300) more...

MalaCards based summary : Hyperphosphatasia with Mental Retardation Syndrome 1, also known as mabry syndrome, is related to hyperphosphatasia with mental retardation syndrome 2 and hyperphosphatasia with mental retardation syndrome, and has symptoms including constipation, seizures and malar flattening. An important gene associated with Hyperphosphatasia with Mental Retardation Syndrome 1 is PIGV (Phosphatidylinositol Glycan Anchor Biosynthesis Class V). Affiliated tissues include bone and eye.

Genetics Home Reference : 25 Mabry syndrome is a condition characterized by intellectual disability, distinctive facial features, increased levels of an enzyme called alkaline phosphatase in the blood (hyperphosphatasia), and other signs and symptoms.

UniProtKB/Swiss-Prot : 66 Hyperphosphatasia with mental retardation syndrome 1: A severe syndrome characterized by elevated serum alkaline phosphatase, severe mental retardation, seizures, hypotonia, facial dysmorphism, and hypoplastic terminal phalanges.

Related Diseases for Hyperphosphatasia with Mental Retardation Syndrome 1

Graphical network of the top 20 diseases related to Hyperphosphatasia with Mental Retardation Syndrome 1:



Diseases related to Hyperphosphatasia with Mental Retardation Syndrome 1

Symptoms & Phenotypes for Hyperphosphatasia with Mental Retardation Syndrome 1

Symptoms by clinical synopsis from OMIM:

239300

Clinical features from OMIM:

239300

Human phenotypes related to Hyperphosphatasia with Mental Retardation Syndrome 1:

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

UMLS symptoms related to Hyperphosphatasia with Mental Retardation Syndrome 1:


seizures

Drugs & Therapeutics for Hyperphosphatasia with Mental Retardation Syndrome 1

Search Clinical Trials , NIH Clinical Center for Hyperphosphatasia with Mental Retardation Syndrome 1

Genetic Tests for Hyperphosphatasia with Mental Retardation Syndrome 1

Genetic tests related to Hyperphosphatasia with Mental Retardation Syndrome 1:

id Genetic test Affiliating Genes
1 Hyperphosphatasia with Mental Retardation Syndrome 1 29 24 PIGV

Anatomical Context for Hyperphosphatasia with Mental Retardation Syndrome 1

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

39
Bone, Eye

Publications for Hyperphosphatasia with Mental Retardation Syndrome 1

Variations for Hyperphosphatasia with Mental Retardation Syndrome 1

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

66
id Symbol AA change Variation ID SNP ID
1 PIGV p.Gln256Lys VAR_064190 rs267606952
2 PIGV p.Ala341Glu VAR_064191 rs139073416
3 PIGV p.Ala341Val VAR_064192 rs139073416
4 PIGV p.His385Pro VAR_064193 rs267606951

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 PIGV NM_017837.3(PIGV): c.1022C> A (p.Ala341Glu) single nucleotide variant Pathogenic rs139073416 GRCh37 Chromosome 1, 27121547: 27121547
2 PIGV NM_017837.3(PIGV): c.1154A> C (p.His385Pro) single nucleotide variant Pathogenic rs267606951 GRCh37 Chromosome 1, 27121679: 27121679
3 PIGV NM_017837.3(PIGV): c.766C> A (p.Gln256Lys) single nucleotide variant Pathogenic rs267606952 GRCh37 Chromosome 1, 27121291: 27121291
4 PIGV NM_017837.3(PIGV): c.1022C> T (p.Ala341Val) single nucleotide variant Pathogenic rs139073416 GRCh37 Chromosome 1, 27121547: 27121547
5 PIGV NM_017837.3(PIGV): c.467G> A (p.Cys156Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs387907023 GRCh37 Chromosome 1, 27120992: 27120992
6 PIGV NM_017837.3(PIGV): c.494C> A (p.Ala165Glu) single nucleotide variant Pathogenic rs376328153 GRCh37 Chromosome 1, 27121019: 27121019

Expression for Hyperphosphatasia with Mental Retardation Syndrome 1

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

Pathways for Hyperphosphatasia with Mental Retardation Syndrome 1

GO Terms for Hyperphosphatasia with Mental Retardation Syndrome 1

Sources for Hyperphosphatasia with Mental Retardation Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....