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 ⁷² ²⁹ ¹³ ⁶

Glycosylphosphatidylinositol Biosynthesis Defect 8 ⁵⁷ ⁷²

Mental Retardation, Autosomal Recessive 17 ⁵⁷ ⁷⁰

Hpmrs3 ⁵⁷ ⁷²

Gpibd8 ⁵⁷ ⁷²

Mrt17 ⁵⁷ ⁷²

Mrt21 ⁵⁷ ⁷²

Hyperphosphatasia, with Mental Retardation Syndrome, Type 3 ³⁹

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 ⁷²

Autosomal Recessive Mental Retardation 21 ⁷²

Characteristics:

OMIM®:

⁵⁷ (Updated 20-May-2021)

Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
most patients are severely affected

HPO:

³¹

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

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 614207

OMIM Phenotypic Series ⁵⁷ PS239300

MeSH ⁴⁴ D008607 D010760

MedGen ⁴¹ C3280153

UMLS ⁷⁰ 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) (Updated 20-May-2021)

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 intellectual disability, mild

UniProtKB/Swiss-Prot : ⁷² 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 1 family:

Hyperphosphatasia with Mental Retardation Syndrome 3	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

Human phenotypes related to Hyperphosphatasia with Mental Retardation Syndrome 3:

³¹ (show all 16)

#	Description	HPO Frequency	HPO Source Accession
1	microcephaly ³¹	occasional (7.5%)	HP:0000252
2	intellectual disability, mild ³¹	occasional (7.5%)	HP:0001256
3	cerebral atrophy ³¹	occasional (7.5%)	HP:0002059
4	seizure ³¹	occasional (7.5%)	HP:0001250
5	hearing impairment ³¹		HP:0000365
6	global developmental delay ³¹		HP:0001263
7	wide nasal bridge ³¹		HP:0000431
8	short nose ³¹		HP:0003196
9	intellectual disability, severe ³¹		HP:0010864
10	absent speech ³¹		HP:0001344
11	cleft palate ³¹		HP:0000175
12	tented upper lip vermilion ³¹		HP:0010804
13	broad nasal tip ³¹		HP:0000455
14	generalized hypotonia ³¹		HP:0001290
15	hyperphosphatemia ³¹		HP:0002905
16	elevated alkaline phosphatase ³¹		HP:0003155

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 20-May-2021)

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)
seizures (in some patients)
delayed psychomotor development
more

Clinical features from OMIM®:

614207 (Updated 20-May-2021)

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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

Articles related to Hyperphosphatasia with Mental Retardation Syndrome 3:

#	Title	Authors	PMID	Year
1	Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability. ⁶ ⁵⁷	Hansen L...Abou Jamra R	23561846	2013
2	PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome. ⁶ ⁵⁷	Krawitz PM...Horn D	23561847	2013
3	Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity. ⁵⁷ ⁶	Abou Jamra R...Reis A	21629298	2011
4	Autozygosity mapping of a large consanguineous Pakistani family reveals a novel non-syndromic autosomal recessive mental retardation locus on 11p15-tel. ⁵⁷ ⁶	Rehman Su...Hansen L	21643797	2011
5	A post glycosylphosphatidylinositol (GPI) attachment to proteins, type 2 (PGAP2) variant identified in Mabry syndrome index cases: Molecular genetics of the prototypical inherited GPI disorder. ⁶¹	Thompson MD...Mabry CC	31805394	2020
6	A novel mutation in PGAP2 gene causes developmental delay, intellectual disability, epilepsy and microcephaly in consanguineous Saudi family. ⁶¹	Naseer MI...Al-Qahtani MH	27871432	2016

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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	PubMed IDs
1	PGAP2	Post-GPI Attachment To Proteins 2	Protein Coding	1343.65	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷² Genetic Tests ²⁹ Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	21643797 23561846

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Variations for Hyperphosphatasia with Mental Retardation Syndrome 3

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

⁶ (show all 14)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	PGAP2	NM_014489.4(PGAP2):c.713G>C (p.Arg238Pro)	SNV	Pathogenic	50503	rs774843232	GRCh37: 11:3846254-3846254 GRCh38: 11:3825024-3825024
2	PGAP2	NM_014489.4(PGAP2):c.563T>C (p.Leu188Ser)	SNV	Pathogenic	50504	rs879255233	GRCh37: 11:3845327-3845327 GRCh38: 11:3824097-3824097
3	PGAP2	NM_014489.4(PGAP2):c.46C>T (p.Arg16Trp)	SNV	Pathogenic	50505	rs773359554	GRCh37: 11:3832535-3832535 GRCh38: 11:3811305-3811305
4	PGAP2	NM_014489.4(PGAP2):c.491C>T (p.Thr164Ile)	SNV	Pathogenic	50506	rs587776970	GRCh37: 11:3845255-3845255 GRCh38: 11:3824025-3824025
5	PGAP2	NM_014489.4(PGAP2):c.2T>G (p.Met1Arg)	SNV	Pathogenic	694699	rs1590215915	GRCh37: 11:3832491-3832491 GRCh38: 11:3811261-3811261
6	PGAP2	NM_014489.4(PGAP2):c.391G>T (p.Glu131Ter)	SNV	Pathogenic	827783	rs1590414630	GRCh37: 11:3845155-3845155 GRCh38: 11:3823925-3823925
7	PGAP2	NM_014489.4(PGAP2):c.479A>G (p.Tyr160Cys)	SNV	Pathogenic	50502	rs879255232	GRCh37: 11:3845243-3845243 GRCh38: 11:3824013-3824013
8	PGAP2	NM_014489.4(PGAP2):c.881C>T (p.Thr294Met)	SNV	Likely pathogenic	827784	rs747658866	GRCh37: 11:3846621-3846621 GRCh38: 11:3825391-3825391
9	PGAP2	NM_014489.4(PGAP2):c.449T>C (p.Phe150Ser)	SNV	Likely pathogenic	802653	rs1590416370	GRCh37: 11:3845213-3845213 GRCh38: 11:3823983-3823983
10	PGAP2	NM_014489.4(PGAP2):c.391dup (p.Glu131fs)	Duplication	Uncertain significance	802650	rs1590414565	GRCh37: 11:3845151-3845152 GRCh38: 11:3823921-3823922
11	PGAP2	NM_014489.4(PGAP2):c.349-910C>A	SNV	Uncertain significance	931683		GRCh37: 11:3844203-3844203 GRCh38: 11:3822973-3822973
12	PGAP2	NM_001256235.1(PGAP2):c.-64+246A>G	SNV	Uncertain significance	1030428		GRCh37: 11:3819219-3819219 GRCh38: 11:3797989-3797989
13	PGAP2	NM_014489.4(PGAP2):c.392A>G (p.Glu131Gly)	SNV	Uncertain significance	802651	rs533117826	GRCh37: 11:3845156-3845156 GRCh38: 11:3823926-3823926
14	PGAP2	NM_014489.4(PGAP2):c.395T>G (p.Val132Gly)	SNV	Uncertain significance	802652	rs551147697	GRCh37: 11:3845159-3845159 GRCh38: 11:3823929-3823929

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

⁷²

#	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

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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 1 family:

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

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

UniProtKB/Swiss-Prot 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