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 51 24 69 26 12
Mabry Syndrome 24 25 69
Hyperphosphatasia with Seizures and Neurologic Deficit 25
Glycosylphosphatidylinositol Biosynthesis Defect 2 69
 
Hyperphosphatasia with Mental Retardation Syndrome 25
Hyperphosphatasia with Mental Retardation 67
Hpmrs1 69
Gpibd2 69

Characteristics:

HPO:

63
hyperphosphatasia with mental retardation syndrome 1:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 239300
MedGen36 C1855923

Summaries for Hyperphosphatasia with Mental Retardation Syndrome 1

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OMIM:51 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 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: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:69 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

Human phenotypes related to Hyperphosphatasia with Mental Retardation Syndrome 1:

 63 (show all 34)
id Description HPO Frequency HPO Source Accession
1 absent speech63 hallmark (90%) HP:0001344
2 thin upper lip vermilion63 common (75%) HP:0000219
3 posteriorly rotated ears63 common (75%) HP:0000358
4 upslanted palpebral fissure63 common (75%) HP:0000582
5 long palpebral fissure63 common (75%) HP:0000637
6 large eyes63 common (75%) HP:0001090
7 small nail63 common (75%) HP:0001792
8 intellectual disability63 7% HP:0001249
9 elevated alkaline phosphatase63 7% HP:0003155
10 short distal phalanx of finger63 7% HP:0009882
11 hypertelorism63 6% HP:0000316
12 wide nasal bridge63 6% HP:0000431
13 broad nasal tip63 6% HP:0000455
14 downturned corners of mouth63 6% HP:0002714
15 cleft palate63 rare (5%) HP:0000175
16 muscular hypotonia63 rare (5%) HP:0001252
17 short toe63 rare (5%) HP:0001831
18 seizures63 3% HP:0001250
19 sensorineural hearing impairment63 2% HP:0000407
20 delayed ossification of carpal bones63 2% HP:0001216
21 anteriorly placed anus63 2% HP:0001545
22 constipation63 2% HP:0002019
23 cleft upper lip63 very rare (1%) HP:0000204
24 hydrocephalus63 very rare (1%) HP:0000238
25 aganglionic megacolon63 very rare (1%) HP:0002251
26 malar flattening63 HP:0000272
27 mandibular prognathia63 HP:0000303
28 short philtrum63 HP:0000322
29 tapered finger63 HP:0001182
30 plagiocephaly63 HP:0001357
31 highly arched eyebrow63 HP:0002553
32 tented upper lip vermilion63 HP:0010804
33 intellectual disability, severe63 HP:0010864
34 midface retrusion63 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 126 24 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:

35
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:

69
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)SNVPathogenicrs139073416GRCh37Chr 1, 27121547: 27121547
2PIGVNM_017837.3(PIGV): c.1154A> C (p.His385Pro)SNVPathogenicrs267606951GRCh37Chr 1, 27121679: 27121679
3PIGVNM_017837.3(PIGV): c.766C> A (p.Gln256Lys)SNVPathogenicrs267606952GRCh37Chr 1, 27121291: 27121291
4PIGVNM_017837.3(PIGV): c.1022C> T (p.Ala341Val)SNVPathogenicrs139073416GRCh37Chr 1, 27121547: 27121547
5PIGVNM_017837.3(PIGV): c.494C> A (p.Ala165Glu)SNVPathogenicrs376328153GRCh37Chr 1, 27121019: 27121019
6PIGVNM_017837.3(PIGV): c.467G> A (p.Cys156Tyr)SNVPathogenicrs387907023GRCh37Chr 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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet