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 ⁷⁵ ²⁹ ⁶ ⁷³

Hpmrs4 ⁵⁷ ⁷⁵

Hyperphosphatasia, with Mental Retardation Syndrome, Type 4 ) ⁴⁰

Glycosylphosphatidylinositol Biosynthesis Defect 10; Gpibd10 ⁵⁷

Glycosylphosphatidylinositol Biosynthesis Defect 10 ⁵⁷

Gpibd10 ⁵⁷

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy

HPO:

³²

hyperphosphatasia with mental retardation syndrome 4:
Onset and clinical course infantile 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 615716

MedGen ⁴² C3810354 CN185452

MeSH ⁴⁴ D008607 D010760

UMLS ⁷³ 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)

MalaCards based summary : Hyperphosphatasia with Mental Retardation Syndrome 4, is also known as hpmrs4, 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 3). Related phenotypes are cleft palate and thin upper lip vermilion

UniProtKB/Swiss-Prot : ⁷⁵ 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 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 4

Symptoms via clinical synopsis from OMIM:

⁵⁷

Head And Neck Eyes:
hypertelorism
upslanting palpebral fissures

Head And Neck Nose:
broad nasal tip
broad nasal bridge

Muscle Soft Tissue:
hypotonia

Growth Other:
poor growth (1 patient)

Head And Neck Ears:
large fleshy earlobes

Neurologic Central Nervous System:
inability to walk
involuntary movements
lack of speech development
delayed psychomotor development, severe
seizures, generalized
more

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

Laboratory Abnormalities:
increased serum alkaline phosphatase

Head And Neck Head:
microcephaly (-2 to -3 sd) (in some patients)

Clinical features from OMIM:

615716

Human phenotypes related to Hyperphosphatasia with Mental Retardation Syndrome 4:

³² (show all 17)

#	Description	HPO Frequency	HPO Source Accession
1	cleft palate ³²	occasional (7.5%)	HP:0000175
2	thin upper lip vermilion ³²		HP:0000219
3	microcephaly ³²	occasional (7.5%)	HP:0000252
4	hypertelorism ³²		HP:0000316
5	wide nasal bridge ³²		HP:0000431
6	broad nasal tip ³²		HP:0000455
7	upslanted palpebral fissure ³²		HP:0000582
8	intellectual disability ³²		HP:0001249
9	seizures ³²		HP:0001250
10	global developmental delay ³²		HP:0001263
11	generalized hypotonia ³²		HP:0001290
12	growth delay ³²	occasional (7.5%)	HP:0001510
13	inability to walk ³²		HP:0002540
14	elevated alkaline phosphatase ³²		HP:0003155
15	bruxism ³²		HP:0003763
16	involuntary movements ³²		HP:0004305
17	tented upper lip vermilion ³²		HP:0010804

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

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Publications for Hyperphosphatasia with Mental Retardation Syndrome 4

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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	PubmedIds
1	PGAP3	Post-GPI Attachment To Proteins 3	Protein Coding	1329.22	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	24439110 22315194

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Variations for Hyperphosphatasia with Mental Retardation Syndrome 4

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

⁷⁵

#	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

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

⁶

(show all 28)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	PGAP3	NM_033419.4(PGAP3): c.275G> A (p.Gly92Asp)	single nucleotide variant	Pathogenic	rs587777251	GRCh37	Chromosome 17, 37842179: 37842179
2	PGAP3	NM_033419.4(PGAP3): c.275G> A (p.Gly92Asp)	single nucleotide variant	Pathogenic	rs587777251	GRCh38	Chromosome 17, 39685926: 39685926
3	PGAP3	NM_033419.4(PGAP3): c.914A> G (p.Asp305Gly)	single nucleotide variant	Likely pathogenic	rs587777252	GRCh37	Chromosome 17, 37829105: 37829105
4	PGAP3	NM_033419.4(PGAP3): c.914A> G (p.Asp305Gly)	single nucleotide variant	Likely pathogenic	rs587777252	GRCh38	Chromosome 17, 39672852: 39672852
5	PGAP3	NM_033419.4(PGAP3): c.314C> G (p.Pro105Arg)	single nucleotide variant	Pathogenic	rs371549948	GRCh37	Chromosome 17, 37840968: 37840968
6	PGAP3	NM_033419.4(PGAP3): c.314C> G (p.Pro105Arg)	single nucleotide variant	Pathogenic	rs371549948	GRCh38	Chromosome 17, 39684715: 39684715
7	PGAP3	NM_033419.4(PGAP3): c.*559C> T	single nucleotide variant	Pathogenic	rs183208638	GRCh37	Chromosome 17, 37828497: 37828497
8	PGAP3	NM_033419.4(PGAP3): c.*559C> T	single nucleotide variant	Pathogenic	rs183208638	GRCh38	Chromosome 17, 39672244: 39672244
9	PGAP3	NM_033419.4(PGAP3): c.861G> T (p.Trp287Cys)	single nucleotide variant	Pathogenic	rs869312813	GRCh37	Chromosome 17, 37829342: 37829342
10	PGAP3	NM_033419.4(PGAP3): c.861G> T (p.Trp287Cys)	single nucleotide variant	Pathogenic	rs869312813	GRCh38	Chromosome 17, 39673089: 39673089
11	PGAP3	NM_033419.4(PGAP3): c.845A> G (p.Asp282Gly)	single nucleotide variant	Pathogenic	rs869312814	GRCh37	Chromosome 17, 37829358: 37829358
12	PGAP3	NM_033419.4(PGAP3): c.845A> G (p.Asp282Gly)	single nucleotide variant	Pathogenic	rs869312814	GRCh38	Chromosome 17, 39673105: 39673105
13	PGAP3	NM_033419.4(PGAP3): c.842T> C (p.Leu281Pro)	single nucleotide variant	Pathogenic	rs869312817	GRCh37	Chromosome 17, 37829361: 37829361
14	PGAP3	NM_033419.4(PGAP3): c.842T> C (p.Leu281Pro)	single nucleotide variant	Pathogenic	rs869312817	GRCh38	Chromosome 17, 39673108: 39673108
15	PGAP3	NM_033419.4(PGAP3): c.558-10G> A	single nucleotide variant	Likely pathogenic	rs200598755	GRCh37	Chromosome 17, 37829913: 37829913
16	PGAP3	NM_033419.4(PGAP3): c.558-10G> A	single nucleotide variant	Likely pathogenic	rs200598755	GRCh38	Chromosome 17, 39673660: 39673660
17	PGAP3	NM_033419.4(PGAP3): c.511T> C (p.Cys171Arg)	single nucleotide variant	Pathogenic	rs869312816	GRCh37	Chromosome 17, 37830292: 37830292
18	PGAP3	NM_033419.4(PGAP3): c.511T> C (p.Cys171Arg)	single nucleotide variant	Pathogenic	rs869312816	GRCh38	Chromosome 17, 39674039: 39674039
19	PGAP3	NM_033419.4(PGAP3): c.439dupC (p.Leu147Profs)	duplication	Pathogenic	rs869312815	GRCh37	Chromosome 17, 37830926: 37830926
20	PGAP3	NM_033419.4(PGAP3): c.439dupC (p.Leu147Profs)	duplication	Pathogenic	rs869312815	GRCh38	Chromosome 17, 39674673: 39674673
21	PGAP3	NM_033419.4(PGAP3): c.402dupC (p.Met135Hisfs)	duplication	Pathogenic	rs869312812	GRCh38	Chromosome 17, 39684627: 39684627
22	PGAP3	NM_033419.4(PGAP3): c.402dupC (p.Met135Hisfs)	duplication	Pathogenic	rs869312812	GRCh37	Chromosome 17, 37840880: 37840880
23	PGAP3	NM_033419.4(PGAP3): c.320C> T (p.Ser107Leu)	single nucleotide variant	Uncertain significance	rs202146344	GRCh37	Chromosome 17, 37840962: 37840962
24	PGAP3	NM_033419.4(PGAP3): c.320C> T (p.Ser107Leu)	single nucleotide variant	Uncertain significance	rs202146344	GRCh38	Chromosome 17, 39684709: 39684709
25	PGAP3	NM_033419.4(PGAP3): c.280delT (p.Trp94Glyfs)	deletion	Pathogenic		GRCh37	Chromosome 17, 37841002: 37841002
26	PGAP3	NM_033419.4(PGAP3): c.280delT (p.Trp94Glyfs)	deletion	Pathogenic		GRCh38	Chromosome 17, 39684749: 39684749
27	PGAP3	NM_033419.4(PGAP3): c.432+1G> A	single nucleotide variant	Pathogenic		GRCh37	Chromosome 17, 37840849: 37840849
28	PGAP3	NM_033419.4(PGAP3): c.432+1G> A	single nucleotide variant	Pathogenic		GRCh38	Chromosome 17, 39684596: 39684596

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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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