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 ⁵⁷ ⁷⁵ ²⁹ ¹³ ⁶

Glycosylphosphatidylinositol Biosynthesis Defect 8 ⁵⁷ ⁷⁵

Mental Retardation, Autosomal Recessive 17 ⁵⁷ ⁷³

Hpmrs3 ⁵⁷ ⁷⁵

Gpibd8 ⁵⁷ ⁷⁵

Mrt17 ⁵⁷ ⁷⁵

Mrt21 ⁵⁷ ⁷⁵

Hyperphosphatasia, with Mental Retardation Syndrome, Type 3 ) ⁴⁰

Glycosylphosphatidylinositol Biosynthesis Defect 8; Gpibd8 ⁵⁷

Mental Retardation, Autosomal Recessive 17; Mrt17 ⁵⁷

Mental Retardation, Autosomal Recessive 21; Mrt21 ⁵⁷

Mental Retardation, Autosomal Recessive 21 ⁵⁷

Autosomal Recessive Mental Retardation 17 ⁷⁵

Autosomal Recessive Mental Retardation 21 ⁷⁵

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
most patients are severely affected

HPO:

³²

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 ⁵⁷ 614207

MedGen ⁴² C3280153

MeSH ⁴⁴ D008607 D010760

SNOMED-CT via HPO ⁶⁹ 258211005 271611007 128613002 more

UMLS ⁷³ C3280153

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Summaries for Hyperphosphatasia with Mental Retardation Syndrome 3

OMIM : ⁵⁷ 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, is also known as glycosylphosphatidylinositol biosynthesis defect 8. An important gene associated with Hyperphosphatasia with Mental Retardation Syndrome 3 is PGAP2 (Post-GPI Attachment To Proteins 2). Related phenotypes are microcephaly and seizures

UniProtKB/Swiss-Prot : ⁷⁵ 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

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Symptoms & Phenotypes for Hyperphosphatasia with Mental Retardation Syndrome 3

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

Human phenotypes related to Hyperphosphatasia with Mental Retardation Syndrome 3:

³² (show all 9)

#	Description	HPO Frequency	HPO Source Accession
1	microcephaly ³²	occasional (7.5%)	HP:0000252
2	seizures ³²	occasional (7.5%)	HP:0001250
3	intellectual disability, mild ³²	occasional (7.5%)	HP:0001256
4	global developmental delay ³²		HP:0001263
5	generalized hypotonia ³²		HP:0001290
6	cerebral atrophy ³²	occasional (7.5%)	HP:0002059
7	hyperphosphatemia ³²		HP:0002905
8	elevated alkaline phosphatase ³²		HP:0003155
9	intellectual disability, severe ³²		HP:0010864

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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 ²⁹	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

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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	1328.9	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	23561847 21629298 23561846 (more) 21643797

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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:

⁷⁵

#	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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