MCID: HYP441
MIFTS: 26

Hyperphosphatasia with Mental Retardation Syndrome 1 malady

Genetic diseases (common), Neuronal diseases, Mental diseases categories

Summaries for Hyperphosphatasia with Mental Retardation Syndrome 1

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OMIM:45 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 hyperphosphatasia with seizures and neurologic deficit, 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 eye and bone.

Genetics Home Reference:21 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.

Aliases & Classifications for Hyperphosphatasia with Mental Retardation Syndrome 1

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Hyperphosphatasia with Mental Retardation Syndrome 1, Aliases & Descriptions:

Name: Hyperphosphatasia with Mental Retardation Syndrome 1 45 10 20 22
Hyperphosphatasia with Seizures and Neurologic Deficit 21
Hyperphosphatasia with Mental Retardation Syndrome 21
 
Hyperphosphatasia with Mental Retardation 60
Mabry Syndrome 21


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)
Anatomical: Neuronal diseases, Mental diseases


External Ids:

OMIM45 239300

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 35)
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 autosomal recessive inheritance HP:0000007
27 malar flattening HP:0000272
28 mandibular prognathia HP:0000303
29 short philtrum HP:0000322
30 tapered finger HP:0001182
31 plagiocephaly HP:0001357
32 highly arched eyebrow HP:0002553
33 tented upper lip vermilion HP:0010804
34 intellectual disability, severe HP:0010864
35 midface retrusion HP:0011800

Drugs & Therapeutics for Hyperphosphatasia with Mental Retardation Syndrome 1

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Drug clinical trials:

Search ClinicalTrials for Hyperphosphatasia with Mental Retardation Syndrome 1

Search 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 120 22 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:

31
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:

62
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:

6
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 variantPathogenicGRCh37Chr 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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Compounds 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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Products for genes affiliated with Hyperphosphatasia with Mental Retardation Syndrome 1

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Hyperphosphatasia with Mental Retardation Syndrome 1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet