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 52 24 70 27 12
Mabry Syndrome 24 25 70
Hyperphosphatasia with Seizures and Neurologic Deficit 25
Glycosylphosphatidylinositol Biosynthesis Defect 2 70
 
Hyperphosphatasia with Mental Retardation Syndrome 25
Hyperphosphatasia with Mental Retardation 68
Hpmrs1 70
Gpibd2 70

Characteristics:

HPO:

64
hyperphosphatasia with mental retardation syndrome 1:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 239300
MedGen37 C1855923

Summaries for Hyperphosphatasia with Mental Retardation Syndrome 1

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OMIM:52 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.

UniProtKB/Swiss-Prot:70 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.

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.

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 & Phenotypes 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:

 64 (show all 34)
id Description HPO Frequency HPO Source Accession
1 absent speech64 hallmark (90%) HP:0001344
2 thin upper lip vermilion64 common (75%) HP:0000219
3 posteriorly rotated ears64 common (75%) HP:0000358
4 upslanted palpebral fissure64 common (75%) HP:0000582
5 long palpebral fissure64 common (75%) HP:0000637
6 large eyes64 common (75%) HP:0001090
7 small nail64 common (75%) HP:0001792
8 intellectual disability64 7% HP:0001249
9 elevated alkaline phosphatase64 7% HP:0003155
10 short distal phalanx of finger64 7% HP:0009882
11 hypertelorism64 6% HP:0000316
12 wide nasal bridge64 6% HP:0000431
13 broad nasal tip64 6% HP:0000455
14 downturned corners of mouth64 6% HP:0002714
15 cleft palate64 rare (5%) HP:0000175
16 muscular hypotonia64 rare (5%) HP:0001252
17 short toe64 rare (5%) HP:0001831
18 seizures64 3% HP:0001250
19 sensorineural hearing impairment64 2% HP:0000407
20 delayed ossification of carpal bones64 2% HP:0001216
21 anteriorly placed anus64 2% HP:0001545
22 constipation64 2% HP:0002019
23 cleft upper lip64 very rare (1%) HP:0000204
24 hydrocephalus64 very rare (1%) HP:0000238
25 aganglionic megacolon64 very rare (1%) HP:0002251
26 malar flattening64 HP:0000272
27 mandibular prognathia64 HP:0000303
28 short philtrum64 HP:0000322
29 tapered finger64 HP:0001182
30 plagiocephaly64 HP:0001357
31 highly arched eyebrow64 HP:0002553
32 tented upper lip vermilion64 HP:0010804
33 intellectual disability, severe64 HP:0010864
34 midface retrusion64 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 127 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:

36
Bone, Eye

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:

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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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet