MCID: HYP441
MIFTS: 26

Hyperphosphatasia with Mental Retardation Syndrome 1 malady

Categories: Genetic diseases (common), Neuronal diseases, Mental diseases

Aliases & Classifications for Hyperphosphatasia with Mental Retardation Syndrome 1

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Aliases & Descriptions for Hyperphosphatasia with Mental Retardation Syndrome 1:

Name: Hyperphosphatasia with Mental Retardation Syndrome 1 49 11 22 67 24
Mabry Syndrome 22 23 67
Hyperphosphatasia with Seizures and Neurologic Deficit 23
 
Hyperphosphatasia with Mental Retardation Syndrome 23
Hyperphosphatasia with Mental Retardation 65
Hpmrs1 67

Characteristics:

HPO:

61
hyperphosphatasia with mental retardation syndrome 1:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 239300
MedGen34 C1855923
UMLS65 C1855923

Summaries for Hyperphosphatasia with Mental Retardation Syndrome 1

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OMIM:49 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 and hyperphosphatasia with mental retardation syndrome 2, and has symptoms including absent speech, small nail and large eyes. An important gene associated with Hyperphosphatasia with Mental Retardation Syndrome 1 is PIGV (Phosphatidylinositol Glycan Anchor Biosynthesis Class V). Affiliated tissues include eye, bone and prostate.

Genetics Home Reference:23 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:67 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

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



Diseases related to hyperphosphatasia with mental retardation syndrome 1

Symptoms for Hyperphosphatasia with Mental Retardation Syndrome 1

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Symptoms by clinical synopsis from OMIM:

239300

Clinical features from OMIM:

239300

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

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

UMLS symptoms related to Hyperphosphatasia with Mental Retardation Syndrome 1:


seizures

Drugs & Therapeutics for Hyperphosphatasia with Mental Retardation Syndrome 1

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Interventional clinical trials:

Search ClinicalTrials, 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 122 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:

33
Eye, Bone, Prostate

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:

67
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:

5
id Gene Variation Type Significance SNP ID Assembly Location
1PIGVNM_017837.3(PIGV): c.1022C> A (p.Ala341Glu)single nucleotide variantPathogenicrs139073416GRCh37Chr 1, 27121547: 27121547
2PIGVNM_017837.3(PIGV): c.1154A> C (p.His385Pro)single nucleotide variantPathogenicrs267606951GRCh37Chr 1, 27121679: 27121679
3PIGVNM_017837.3(PIGV): c.766C> A (p.Gln256Lys)single nucleotide variantPathogenicrs267606952GRCh37Chr 1, 27121291: 27121291
4PIGVNM_017837.3(PIGV): c.1022C> T (p.Ala341Val)single nucleotide variantPathogenicrs139073416GRCh37Chr 1, 27121547: 27121547
5PIGVNM_017837.3(PIGV): c.494C> A (p.Ala165Glu)single nucleotide variantPathogenicrs376328153GRCh37Chr 1, 27121019: 27121019
6PIGVNM_017837.3(PIGV): c.467G> A (p.Cys156Tyr)single nucleotide variantPathogenicrs387907023GRCh37Chr 1, 27120992: 27120992

Expression for genes affiliated with Hyperphosphatasia with Mental Retardation Syndrome 1

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

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Sources for Hyperphosphatasia with Mental Retardation Syndrome 1

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet