Hyperphosphatasia with Mental Retardation Syndrome 4 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Hyperphosphatasia with Mental Retardation Syndrome 4

MalaCards integrated aliases for Hyperphosphatasia with Mental Retardation Syndrome 4:

Name: Hyperphosphatasia with Mental Retardation Syndrome 4 ⁵⁷ ⁷² ²⁹ ⁶ ⁷⁰

Hpmrs4 ⁵⁷ ⁷²

Glycosylphosphatidylinositol Biosynthesis Defect 10; Gpibd10 ⁵⁷

Hyperphosphatasia, with Mental Retardation Syndrome, Type 4 ³⁹

Glycosylphosphatidylinositol Biosynthesis Defect 10 ⁵⁷

Gpibd10 ⁵⁷

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy

HPO:

³¹

hyperphosphatasia with mental retardation syndrome 4:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 615716

OMIM Phenotypic Series ⁵⁷ PS239300

MeSH ⁴⁴ D008607 D010760

MedGen ⁴¹ C3810354 CN185452

UMLS ⁷⁰ C3810354

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Summaries for Hyperphosphatasia with Mental Retardation Syndrome 4

OMIM® : ⁵⁷ Hyperphosphatasia with mental retardation syndrome-4 is an autosomal recessive neurologic disorder characterized by severely delayed psychomotor development, mental retardation, lack of speech acquisition, seizures, and dysmorphic facial features. Laboratory studies show increased serum alkaline phosphatase (summary by Howard et al., 2014). 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). (615716) (Updated 05-Apr-2021)

MalaCards based summary : Hyperphosphatasia with Mental Retardation Syndrome 4, also known as hpmrs4, is related to autosomal recessive disease and hypotonia, and has symptoms including involuntary movements and myoclonic seizures. An important gene associated with Hyperphosphatasia with Mental Retardation Syndrome 4 is PGAP3 (Post-GPI Attachment To Proteins Phospholipase 3). Affiliated tissues include cerebellum, heart and brain, and related phenotypes are microcephaly and cleft palate

UniProtKB/Swiss-Prot : ⁷² Hyperphosphatasia with mental retardation syndrome 4: An autosomal recessive neurologic disorder characterized by profound developmental delay, severe mental retardation, no speech, psychomotor delay, postnatal microcephaly, and elevated serum alkaline phosphatase.

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Related Diseases for Hyperphosphatasia with Mental Retardation Syndrome 4

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

Diseases related to Hyperphosphatasia with Mental Retardation Syndrome 4 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score
1	autosomal recessive disease	10.4
2	hypotonia	10.4
3	cleft palate, isolated	10.3
4	dysphagia	10.3
5	megalocornea	10.2
6	alacrima, achalasia, and mental retardation syndrome	10.2
7	hyperphosphatasia-intellectual disability syndrome	10.2

Graphical network of the top 20 diseases related to Hyperphosphatasia with Mental Retardation Syndrome 4:

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Symptoms & Phenotypes for Hyperphosphatasia with Mental Retardation Syndrome 4

Human phenotypes related to Hyperphosphatasia with Mental Retardation Syndrome 4:

³¹ (show all 17)

#	Description	HPO Frequency	HPO Source Accession
1	microcephaly ³¹	occasional (7.5%)	HP:0000252
2	cleft palate ³¹	occasional (7.5%)	HP:0000175
3	growth delay ³¹	occasional (7.5%)	HP:0001510
4	intellectual disability ³¹		HP:0001249
5	global developmental delay ³¹		HP:0001263
6	hypertelorism ³¹		HP:0000316
7	wide nasal bridge ³¹		HP:0000431
8	upslanted palpebral fissure ³¹		HP:0000582
9	thin upper lip vermilion ³¹		HP:0000219
10	involuntary movements ³¹		HP:0004305
11	tented upper lip vermilion ³¹		HP:0010804
12	broad nasal tip ³¹		HP:0000455
13	generalized hypotonia ³¹		HP:0001290
14	inability to walk ³¹		HP:0002540
15	bruxism ³¹		HP:0003763
16	elevated alkaline phosphatase ³¹		HP:0003155
17	seizure ³¹		HP:0001250

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Head And Neck Eyes:
hypertelorism
epicanthal folds
upslanting palpebral fissures

Head And Neck Nose:
broad nasal tip
broad nasal bridge

Muscle Soft Tissue:
hypotonia

Head And Neck Teeth:
abnormal dentition

Growth Other:
poor growth (1 patient)

Cardiovascular Heart:
congenital heart defects (in 1 family)

Skin Nails Hair Hair:
thin, sparse hair (in 1 family)

Neurologic Central Nervous System:
involuntary movements
inability to walk
hypoplastic corpus callosum (in some patients)
lack of speech development
delayed psychomotor development, severe
more

Head And Neck Mouth:
bruxism
thin upper lip
cleft palate (in some patients)
tented upper lip
gum hypertrophy (in 1 patient)

Laboratory Abnormalities:
increased serum alkaline phosphatase

Head And Neck Ears:
hearing loss (in some patients)
large fleshy earlobes
ear pit

Head And Neck Head:
microcephaly (-2 to -3 sd) (in some patients)
large anterior fontanel (in 1 family)

Skeletal Feet:
pes equinovarus (in 1 patient)

Clinical features from OMIM®:

615716 (Updated 05-Apr-2021)

UMLS symptoms related to Hyperphosphatasia with Mental Retardation Syndrome 4:

involuntary movements; myoclonic seizures

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Drugs & Therapeutics for Hyperphosphatasia with Mental Retardation Syndrome 4

Search Clinical Trials , NIH Clinical Center for Hyperphosphatasia with Mental Retardation Syndrome 4

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Genetic Tests for Hyperphosphatasia with Mental Retardation Syndrome 4

Genetic tests related to Hyperphosphatasia with Mental Retardation Syndrome 4:

#	Genetic test	Affiliating Genes
1	Hyperphosphatasia with Mental Retardation Syndrome 4 ²⁹	PGAP3

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Anatomical Context for Hyperphosphatasia with Mental Retardation Syndrome 4

MalaCards organs/tissues related to Hyperphosphatasia with Mental Retardation Syndrome 4:

⁴⁰

Cerebellum, Heart, Brain

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Publications for Hyperphosphatasia with Mental Retardation Syndrome 4

Articles related to Hyperphosphatasia with Mental Retardation Syndrome 4:

#	Title	Authors	PMID	Year
1	Delineating the phenotypic spectrum of hyperphosphatasia with mental retardation syndrome 4 in 14 patients of Middle-Eastern origin. ⁶¹ ⁵⁷ ⁶	Balobaid A...Al-Sayed M	30345601	2018
2	Hyperphosphatasia with mental retardation syndrome type 4 In two siblings-expanding the phenotypic and mutational spectrum. ⁶ ⁵⁷	Akgun Dogan O...Boduroglu K	30217754	2019
3	Expanding the phenome and variome of skeletal dysplasia. ⁵⁷ ⁶	Maddirevula S...Alkuraya FS	29620724	2018
4	Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation. ⁶ ⁵⁷	Howard MF...Krawitz PM	24439110	2014
5	Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome). ⁵⁷ ⁶	Thompson MD...Cole DE	22315194	2012
6	PGAP3-related hyperphosphatasia with mental retardation syndrome: Report of 10 new patients and a homozygous founder mutation. ⁶	Abdel-Hamid MS...Zaki MS	28390064	2018
7	Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome. ⁶	Knaus A...Krawitz PM	27120253	2016
8	PGAP3 Associated with Hyperphosphatasia with Mental Retardation Plays a Novel Role in Brain Morphogenesis and Neuronal Wiring at Early Development. ⁶¹	Da'as SI...Fakhro KA	32726939	2020
9	A novel PGAP3 mutation in a Croatian boy with brachytelephalangy and a thin corpus callosum. ⁶¹	Sakaguchi T...Baric I	29531774	2018

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Genes for Hyperphosphatasia with Mental Retardation Syndrome 4

Genes related to Hyperphosphatasia with Mental Retardation Syndrome 4 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	PGAP3	Post-GPI Attachment To Proteins Phospholipase 3	Protein Coding	1353.81	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷² Genetic Tests ²⁹ Likely pathogenic ⁶ GeneCards inferred via : Disorders Publications Variants (show sections)	24439110

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Variations for Hyperphosphatasia with Mental Retardation Syndrome 4

ClinVar genetic disease variations for Hyperphosphatasia with Mental Retardation Syndrome 4:

⁶ (show all 21)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	PGAP3	NM_033419.5(PGAP3):c.275G>A (p.Gly92Asp)	SNV	Pathogenic	125437	rs587777251	GRCh37: 17:37842179-37842179 GRCh38: 17:39685926-39685926
2	PGAP3	NM_033419.5(PGAP3):c.914A>G (p.Asp305Gly)	SNV	Pathogenic	125439	rs587777252	GRCh37: 17:37829105-37829105 GRCh38: 17:39672852-39672852
3	PGAP3	NM_033419.5(PGAP3):c.314C>G (p.Pro105Arg)	SNV	Pathogenic	125440	rs371549948	GRCh37: 17:37840968-37840968 GRCh38: 17:39684715-39684715
4	PGAP3	NM_033419.5(PGAP3):c.439dup (p.Leu147fs)	Duplication	Pathogenic	224646	rs869312815	GRCh37: 17:37830925-37830926 GRCh38: 17:39674672-39674673
5	PGAP3	NM_033419.5(PGAP3):c.320C>T (p.Ser107Leu)	SNV	Pathogenic	224643	rs202146344	GRCh37: 17:37840962-37840962 GRCh38: 17:39684709-39684709
6	PGAP3	NM_033419.5(PGAP3):c.861G>T (p.Trp287Cys)	SNV	Pathogenic	224641	rs869312813	GRCh37: 17:37829342-37829342 GRCh38: 17:39673089-39673089
7	PGAP3	NM_033419.5(PGAP3):c.845A>G (p.Asp282Gly)	SNV	Pathogenic	224644	rs869312814	GRCh37: 17:37829358-37829358 GRCh38: 17:39673105-39673105
8	PGAP3	NM_033419.5(PGAP3):c.511T>C (p.Cys171Arg)	SNV	Pathogenic	224647	rs869312816	GRCh37: 17:37830292-37830292 GRCh38: 17:39674039-39674039
9	PGAP3	NM_033419.5(PGAP3):c.842T>C (p.Leu281Pro)	SNV	Pathogenic	224648	rs869312817	GRCh37: 17:37829361-37829361 GRCh38: 17:39673108-39673108
10	PGAP3	NM_033419.5(PGAP3):c.280del (p.Trp94fs)	Deletion	Pathogenic	496676	rs1555610292	GRCh37: 17:37841002-37841002 GRCh38: 17:39684749-39684749
11	PGAP3	NM_033419.5(PGAP3):c.432+1G>A	SNV	Pathogenic	522978	rs1555610241	GRCh37: 17:37840849-37840849 GRCh38: 17:39684596-39684596
12	PGAP3	NM_033419.5(PGAP3):c.851A>G (p.His284Arg)	SNV	Pathogenic	599004	rs776720232	GRCh37: 17:37829352-37829352 GRCh38: 17:39673099-39673099
13	PGAP3	NM_033419.5(PGAP3):c.75_81dup (p.Val28Ter)	Duplication	Pathogenic	982399		GRCh37: 17:37844186-37844187 GRCh38: 17:39687933-39687934
14	PGAP3	NM_033419.5(PGAP3):c.402dup (p.Met135fs)	Duplication	Pathogenic	224640	rs869312812	GRCh37: 17:37840879-37840880 GRCh38: 17:39684626-39684627
15	PGAP3	NM_033419.5(PGAP3):c.850C>T (p.His284Tyr)	SNV	Pathogenic/Likely pathogenic	800935	rs759541820	GRCh37: 17:37829353-37829353 GRCh38: 17:39673100-39673100
16	PGAP3	NM_033419.5(PGAP3):c.507C>A (p.Tyr169Ter)	SNV	Pathogenic/Likely pathogenic	522596	rs1567871748	GRCh37: 17:37830296-37830296 GRCh38: 17:39674043-39674043
17	PGAP3	NM_033419.5(PGAP3):c.558-10G>A	SNV	Likely pathogenic	224645	rs200598755	GRCh37: 17:37829913-37829913 GRCh38: 17:39673660-39673660
18	PGAP3	NM_033419.5(PGAP3):c.*559C>T	SNV	Conflicting interpretations of pathogenicity	224642	rs183208638	GRCh37: 17:37828497-37828497 GRCh38: 17:39672244-39672244
19	PGAP3	NM_033419.5(PGAP3):c.209A>T (p.Tyr70Phe)	SNV	Uncertain significance	547988	rs146132289	GRCh37: 17:37842245-37842245 GRCh38: 17:39685992-39685992
20	PGAP3	NM_033419.5(PGAP3):c.307C>G (p.Gln103Glu)	SNV	Uncertain significance	1028519		GRCh37: 17:37840975-37840975 GRCh38: 17:39684722-39684722
21	PGAP3	NM_033419.5(PGAP3):c.754C>T (p.His252Tyr)	SNV	Uncertain significance	1031560		GRCh37: 17:37829449-37829449 GRCh38: 17:39673196-39673196

UniProtKB/Swiss-Prot genetic disease variations for Hyperphosphatasia with Mental Retardation Syndrome 4:

⁷²

#	Symbol	AA change	Variation ID	SNP ID
1	PGAP3	p.Gly92Asp	VAR_071155	rs587777251
2	PGAP3	p.Pro105Arg	VAR_071156	rs371549948
3	PGAP3	p.Asp305Gly	VAR_071157	rs587777252

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Expression for Hyperphosphatasia with Mental Retardation Syndrome 4

Search GEO for disease gene expression data for Hyperphosphatasia with Mental Retardation Syndrome 4.

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Pathways for Hyperphosphatasia with Mental Retardation Syndrome 4

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GO Terms for Hyperphosphatasia with Mental Retardation Syndrome 4

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Hyperphosphatasia with Mental Retardation Syndrome 4 (HPMRS4)

Aliases & Classifications for Hyperphosphatasia with Mental Retardation Syndrome 4

MalaCards integrated aliases for Hyperphosphatasia with Mental Retardation Syndrome 4:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Hyperphosphatasia with Mental Retardation Syndrome 4

Related Diseases for Hyperphosphatasia with Mental Retardation Syndrome 4

Diseases in the Hyperphosphatasia with Mental Retardation Syndrome 1 family:

Diseases related to Hyperphosphatasia with Mental Retardation Syndrome 4 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Hyperphosphatasia with Mental Retardation Syndrome 4:

Symptoms & Phenotypes for Hyperphosphatasia with Mental Retardation Syndrome 4

Human phenotypes related to Hyperphosphatasia with Mental Retardation Syndrome 4:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

UMLS symptoms related to Hyperphosphatasia with Mental Retardation Syndrome 4:

Drugs & Therapeutics for Hyperphosphatasia with Mental Retardation Syndrome 4

Genetic Tests for Hyperphosphatasia with Mental Retardation Syndrome 4

Genetic tests related to Hyperphosphatasia with Mental Retardation Syndrome 4:

Anatomical Context for Hyperphosphatasia with Mental Retardation Syndrome 4

MalaCards organs/tissues related to Hyperphosphatasia with Mental Retardation Syndrome 4:

Publications for Hyperphosphatasia with Mental Retardation Syndrome 4

Articles related to Hyperphosphatasia with Mental Retardation Syndrome 4:

Genes for Hyperphosphatasia with Mental Retardation Syndrome 4

Genes related to Hyperphosphatasia with Mental Retardation Syndrome 4 (1 elite genes):

Variations for Hyperphosphatasia with Mental Retardation Syndrome 4

ClinVar genetic disease variations for Hyperphosphatasia with Mental Retardation Syndrome 4:

UniProtKB/Swiss-Prot genetic disease variations for Hyperphosphatasia with Mental Retardation Syndrome 4:

Expression for Hyperphosphatasia with Mental Retardation Syndrome 4

Pathways for Hyperphosphatasia with Mental Retardation Syndrome 4

GO Terms for Hyperphosphatasia with Mental Retardation Syndrome 4

Sources for Hyperphosphatasia with Mental Retardation Syndrome 4