MCID: HYP580
MIFTS: 20

Hyperphosphatasia with Mental Retardation Syndrome 4

Categories: Genetic diseases, Neuronal diseases, Mental diseases

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:



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.

Related Diseases for Hyperphosphatasia with Mental Retardation Syndrome 4

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

Drugs & Therapeutics for Hyperphosphatasia with Mental Retardation Syndrome 4

Search Clinical Trials , NIH Clinical Center 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:

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

Anatomical Context for Hyperphosphatasia with Mental Retardation Syndrome 4

Publications for Hyperphosphatasia with Mental Retardation Syndrome 4

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

Expression for Hyperphosphatasia with Mental Retardation Syndrome 4

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

Pathways for Hyperphosphatasia with Mental Retardation Syndrome 4

GO Terms for Hyperphosphatasia with Mental Retardation Syndrome 4

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