MCID: HYP441
MIFTS: 27

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 2 and hyperphosphatasia with mental retardation syndrome 3, 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 and bone.

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

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

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