Hyperphosphatasia with Mental Retardation Syndrome 3 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Hyperphosphatasia with Mental Retardation Syndrome 3

MalaCards integrated aliases for Hyperphosphatasia with Mental Retardation Syndrome 3:

Name: Hyperphosphatasia with Mental Retardation Syndrome 3 ⁵⁸ ⁷⁶ ³⁰ ¹³ ⁶

Glycosylphosphatidylinositol Biosynthesis Defect 8 ⁵⁸ ⁷⁶

Mental Retardation, Autosomal Recessive 17 ⁵⁸ ⁷⁴

Hpmrs3 ⁵⁸ ⁷⁶

Gpibd8 ⁵⁸ ⁷⁶

Mrt17 ⁵⁸ ⁷⁶

Mrt21 ⁵⁸ ⁷⁶

Hyperphosphatasia, with Mental Retardation Syndrome, Type 3 ) ⁴¹

Glycosylphosphatidylinositol Biosynthesis Defect 8; Gpibd8 ⁵⁸

Mental Retardation, Autosomal Recessive 17; Mrt17 ⁵⁸

Mental Retardation, Autosomal Recessive 21; Mrt21 ⁵⁸

Mental Retardation, Autosomal Recessive 21 ⁵⁸

Autosomal Recessive Mental Retardation 17 ⁷⁶

Autosomal Recessive Mental Retardation 21 ⁷⁶

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
most patients are severely affected

HPO:

³³

hyperphosphatasia with mental retardation syndrome 3:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Neuronal diseases Mental diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁸ 614207

MeSH ⁴⁵ D008607 D010760

MedGen ⁴³ C3280153

UMLS ⁷⁴ C3280153

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Summaries for Hyperphosphatasia with Mental Retardation Syndrome 3

OMIM : ⁵⁸ Hyperphosphatasia with mental retardation syndrome-3 is an autosomal recessive disorder usually characterized by severe mental retardation, hypotonia with very poor motor development, poor speech, and increased serum alkaline phosphatase (summary by Hansen et al., 2013). However, the severity of the disorder can also vary to include milder intellectual disability (Krawitz et al., 2013). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis. For a discussion of genetic heterogeneity of HPMRS, see HPMRS1 (239300). For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293). (614207)

MalaCards based summary : Hyperphosphatasia with Mental Retardation Syndrome 3, also known as glycosylphosphatidylinositol biosynthesis defect 8, is related to cone-rod dystrophy and hearing loss 2. An important gene associated with Hyperphosphatasia with Mental Retardation Syndrome 3 is PGAP2 (Post-GPI Attachment To Proteins 2). Related phenotypes are seizures and microcephaly

UniProtKB/Swiss-Prot : ⁷⁶ Hyperphosphatasia with mental retardation syndrome 3: An autosomal recessive disorder usually characterized by mental retardation, hypotonia with very poor motor development, poor speech, and increased serum alkaline phosphatase.

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Related Diseases for Hyperphosphatasia with Mental Retardation Syndrome 3

Diseases in the Hyperphosphatasia with Mental Retardation Syndrome 3 family:

Hyperphosphatasia with Mental Retardation Syndrome 1	Hyperphosphatasia with Mental Retardation Syndrome 2
Hyperphosphatasia with Mental Retardation Syndrome 4	Hyperphosphatasia with Mental Retardation Syndrome 6

Diseases related to Hyperphosphatasia with Mental Retardation Syndrome 3 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	cone-rod dystrophy and hearing loss 2	11.2

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Symptoms & Phenotypes for Hyperphosphatasia with Mental Retardation Syndrome 3

Human phenotypes related to Hyperphosphatasia with Mental Retardation Syndrome 3:

³³ (show all 15)

#	Description	HPO Frequency	HPO Source Accession
1	seizures ³³	occasional (7.5%)	HP:0001250
2	microcephaly ³³	occasional (7.5%)	HP:0000252
3	intellectual disability, mild ³³	occasional (7.5%)	HP:0001256
4	cerebral atrophy ³³	occasional (7.5%)	HP:0002059
5	global developmental delay ³³		HP:0001263
6	wide nasal bridge ³³		HP:0000431
7	short nose ³³		HP:0003196
8	intellectual disability, severe ³³		HP:0010864
9	cleft palate ³³		HP:0000175
10	absent speech ³³		HP:0001344
11	broad nasal tip ³³		HP:0000455
12	tented upper lip vermilion ³³		HP:0010804
13	generalized hypotonia ³³		HP:0001290
14	hyperphosphatemia ³³		HP:0002905
15	elevated alkaline phosphatase ³³		HP:0003155

Symptoms via clinical synopsis from OMIM:

⁵⁸

Head And Neck Ears:
hearing impairment

Head And Neck Mouth:
cleft palate
tented upper lip

Muscle Soft Tissue:
hypotonia

Head And Neck Head:
microcephaly (in some patients)

Head And Neck Nose:
short nose
broad nasal tip
broad nasal bridge

Laboratory Abnormalities:
hyperphosphatemia
increased serum alkaline phosphatase

Neurologic Central Nervous System:
hypotonia
mental retardation, severe
intellectual disability, mild (in some patients)
delayed psychomotor development
seizures (in some patients)
more

Clinical features from OMIM:

614207

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Drugs & Therapeutics for Hyperphosphatasia with Mental Retardation Syndrome 3

Search Clinical Trials , NIH Clinical Center for Hyperphosphatasia with Mental Retardation Syndrome 3

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Genetic Tests for Hyperphosphatasia with Mental Retardation Syndrome 3

Genetic tests related to Hyperphosphatasia with Mental Retardation Syndrome 3:

#	Genetic test	Affiliating Genes
1	Hyperphosphatasia with Mental Retardation Syndrome 3 ³⁰	PGAP2

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Anatomical Context for Hyperphosphatasia with Mental Retardation Syndrome 3

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Publications for Hyperphosphatasia with Mental Retardation Syndrome 3

Articles related to Hyperphosphatasia with Mental Retardation Syndrome 3:

#	Title	Authors	Year
1	PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome. ( 23561847 )	Krawitz PM...Horn D	2013
2	Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability. ( 23561846 )	Hansen L...Abou Jamra R	2013
3	Autozygosity mapping of a large consanguineous Pakistani family reveals a novel non-syndromic autosomal recessive mental retardation locus on 11p15-tel. ( 21643797 )	Rehman Su...Hansen L	2011
4	Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity. ( 21629298 )	Abou Jamra R...Reis A	2011

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Genes for Hyperphosphatasia with Mental Retardation Syndrome 3

Genes related to Hyperphosphatasia with Mental Retardation Syndrome 3 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	PGAP2	Post-GPI Attachment To Proteins 2	Protein Coding	1328.74	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ Genetic Tests ³⁰ GeneCards inferred via : Disorders Variants (show sections)	21629298 23561846 21643797 (more) 23561847

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Variations for Hyperphosphatasia with Mental Retardation Syndrome 3

UniProtKB/Swiss-Prot genetic disease variations for Hyperphosphatasia with Mental Retardation Syndrome 3:

⁷⁶

#	Symbol	AA change	Variation ID	SNP ID
1	PGAP2	p.Arg16Trp	VAR_069664	rs773359554
2	PGAP2	p.Tyr99Cys	VAR_069665	rs879255232
3	PGAP2	p.Leu127Ser	VAR_069666	rs879255233
4	PGAP2	p.Thr160Ile	VAR_069667	rs780188037
5	PGAP2	p.Arg177Pro	VAR_069668	rs774843232

ClinVar genetic disease variations for Hyperphosphatasia with Mental Retardation Syndrome 3:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	PGAP2	NM_001256240.1(PGAP2): c.296A> G (p.Tyr99Cys)	single nucleotide variant	Pathogenic	rs879255232	GRCh38	Chromosome 11, 3824013: 3824013
2	PGAP2	NM_001256240.1(PGAP2): c.296A> G (p.Tyr99Cys)	single nucleotide variant	Pathogenic	rs879255232	GRCh37	Chromosome 11, 3845243: 3845243
3	PGAP2	NM_001256240.1(PGAP2): c.530G> C (p.Arg177Pro)	single nucleotide variant	Pathogenic	rs774843232	GRCh38	Chromosome 11, 3825024: 3825024
4	PGAP2	NM_001256240.1(PGAP2): c.530G> C (p.Arg177Pro)	single nucleotide variant	Pathogenic	rs774843232	GRCh37	Chromosome 11, 3846254: 3846254
5	PGAP2	NM_001256240.1(PGAP2): c.380T> C (p.Leu127Ser)	single nucleotide variant	Pathogenic	rs879255233	GRCh38	Chromosome 11, 3824097: 3824097
6	PGAP2	NM_001256240.1(PGAP2): c.380T> C (p.Leu127Ser)	single nucleotide variant	Pathogenic	rs879255233	GRCh37	Chromosome 11, 3845327: 3845327
7	PGAP2	NM_001256240.1(PGAP2): c.46C> T (p.Arg16Trp)	single nucleotide variant	Pathogenic	rs773359554	GRCh38	Chromosome 11, 3811305: 3811305
8	PGAP2	NM_001256240.1(PGAP2): c.46C> T (p.Arg16Trp)	single nucleotide variant	Pathogenic	rs773359554	GRCh37	Chromosome 11, 3832535: 3832535
9	PGAP2	NM_001145438.2(PGAP2): c.479C> T (p.Thr160Ile)	single nucleotide variant	Pathogenic	rs587776970	GRCh37	Chromosome 11, 3845255: 3845255
10	PGAP2	NM_001145438.2(PGAP2): c.479C> T (p.Thr160Ile)	single nucleotide variant	Pathogenic	rs587776970	GRCh38	Chromosome 11, 3824025: 3824025

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Expression for Hyperphosphatasia with Mental Retardation Syndrome 3

Search GEO for disease gene expression data for Hyperphosphatasia with Mental Retardation Syndrome 3.

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Pathways for Hyperphosphatasia with Mental Retardation Syndrome 3

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GO Terms for Hyperphosphatasia with Mental Retardation Syndrome 3

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Hyperphosphatasia with Mental Retardation Syndrome 3 (HPMRS3)

Aliases & Classifications for Hyperphosphatasia with Mental Retardation Syndrome 3

MalaCards integrated aliases for Hyperphosphatasia with Mental Retardation Syndrome 3:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Hyperphosphatasia with Mental Retardation Syndrome 3

Related Diseases for Hyperphosphatasia with Mental Retardation Syndrome 3

Diseases in the Hyperphosphatasia with Mental Retardation Syndrome 3 family:

Diseases related to Hyperphosphatasia with Mental Retardation Syndrome 3 via text searches within MalaCards or GeneCards Suite gene sharing:

Symptoms & Phenotypes for Hyperphosphatasia with Mental Retardation Syndrome 3

Human phenotypes related to Hyperphosphatasia with Mental Retardation Syndrome 3:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Hyperphosphatasia with Mental Retardation Syndrome 3

Genetic Tests for Hyperphosphatasia with Mental Retardation Syndrome 3

Genetic tests related to Hyperphosphatasia with Mental Retardation Syndrome 3:

Anatomical Context for Hyperphosphatasia with Mental Retardation Syndrome 3

Publications for Hyperphosphatasia with Mental Retardation Syndrome 3

Articles related to Hyperphosphatasia with Mental Retardation Syndrome 3:

Genes for Hyperphosphatasia with Mental Retardation Syndrome 3

Genes related to Hyperphosphatasia with Mental Retardation Syndrome 3 (1 elite genes):

Variations for Hyperphosphatasia with Mental Retardation Syndrome 3

UniProtKB/Swiss-Prot genetic disease variations for Hyperphosphatasia with Mental Retardation Syndrome 3:

ClinVar genetic disease variations for Hyperphosphatasia with Mental Retardation Syndrome 3:

Expression for Hyperphosphatasia with Mental Retardation Syndrome 3

Pathways for Hyperphosphatasia with Mental Retardation Syndrome 3

GO Terms for Hyperphosphatasia with Mental Retardation Syndrome 3

Sources for Hyperphosphatasia with Mental Retardation Syndrome 3