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 50 23 68 25 12
Mabry Syndrome 23 24 68
Hyperphosphatasia with Seizures and Neurologic Deficit 24
 
Hyperphosphatasia with Mental Retardation Syndrome 24
Hyperphosphatasia with Mental Retardation 66
Hpmrs1 68

Characteristics:

HPO:

62
hyperphosphatasia with mental retardation syndrome 1:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 239300
MedGen35 C1855923

Summaries for Hyperphosphatasia with Mental Retardation Syndrome 1

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OMIM:50 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, thin upper lip vermilion and posteriorly rotated ears. 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:24 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:68 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 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 malar flattening HP:0000272
27 mandibular prognathia HP:0000303
28 short philtrum HP:0000322
29 tapered finger HP:0001182
30 plagiocephaly HP:0001357
31 highly arched eyebrow HP:0002553
32 tented upper lip vermilion HP:0010804
33 intellectual disability, severe HP:0010864
34 midface retrusion HP:0011800

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 125 23 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:

34
Bone, Eye

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:

68
id Symbol AA change Variation ID SNP ID
1PIGVp.Gln256LysVAR_064190rs267606952
2PIGVp.Ala341GluVAR_064191rs139073416
3PIGVp.Ala341ValVAR_064192rs139073416
4PIGVp.His385ProVAR_064193rs267606951

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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet