Hyperphosphatasia With Mental Retardation Syndrome 3; Hpmrs3

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

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 (OMIM ).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

Genes related to Hyperphosphatasia With Mental Retardation Syndrome 3; Hpmrs3

PGAP2

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Clinical Features

Top most frequent phenotypes and symptoms related to Hyperphosphatasia With Mental Retardation Syndrome 3; Hpmrs3

Intellectual disability
Seizures
Global developmental delay
Generalized hypotonia
Hearing impairment
Microcephaly
Sensorineural hearing impairment
Cleft palate
Motor delay
Wide nasal bridge

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Hyperphosphatasia With Mental Retardation Syndrome 3; Hpmrs3 Is also known as mental retardation, autosomal recessive 17, mrt21, glycosylphosphatidylinositol biosynthesis defect 8, gpibd8, mrt17, mental retardation, autosomal recessive 21.

Researches and researchers

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Hyperphosphatasia With Mental Retardation Syndrome 3; Hpmrs3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Mental retardation - different panels. By Institute of Human Genetics Uniklinik RWTH Aachen (Germany). RGS7, RIT1, RMRP, BCS1L, RPL10, RPS6KA3, RRAS, SALL1, SC5D, ATXN10, BLM, SCN1A, SCN2A, SCN8A, SCO2, AIMP1, SDCCAG8, SDHA, SDHB, SGSH , (...) View the complete list with 845 more genes Panel complete gene list RGS7, RIT1, RMRP, BCS1L, RPL10, RPS6KA3, RRAS, SALL1, SC5D, ATXN10, BLM, SCN1A, SCN2A, SCN8A, SCO2, AIMP1, SDCCAG8, SDHA, SDHB, SGSH, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SKI, SLC12A6, SLC16A2, SLC17A5, SLC1A4, BRAF, SLC25A1, SLC25A15, SLC25A16, SLC2A1, SLC31A1, SLC35A1, SLC35A2, SLC35A3, SLC4A4, SLC6A1, SLC6A3, SLC6A8, SLC9A6, SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A, KDM5C, SMPD1, SMS, SNAP29, SIK1, SOS1, SOS2, SOX10, SOX2, SOX3, SOX5, SPG11, SPTAN1, SSR4, STIM1, PLK4, CDKL5, STXBP1, SUOX, SURF1, BUB1B, SYN1, SYNGAP1, SYP, TAF1, TAF2, TAT, TBCE, TBR1, TCF12, TCF20, TCF4, TGFBR1, TGFBR2, TGIF1, TH, THRB, ACO2, TIMM8A, NKX2-1, TSPAN7, ACOX1, MED12, TPI1, TREX1, TRIO, TRIP12, TSC1, TSC2, CEP41, TUBA8, TUBB2A, TUBG1, UBE2A, UBE3A, USP9X, KDM6A, VLDLR, VRK1, WNT1, WWOX, XPA, ZIC2, RNF113A, KAT6A, SCAPER, ZNF711, ZNF81, ACTB, ARL6, FTSJ1, HDAC8, KIF4A, MCOLN1, NSDHL, RLIM, UBE3B, USP27X, ZBTB20, ERLIN2, FBXL4, CTCF, 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PRKRA, PRODH, PRPS1, PRSS12, SLC33A1, PTCH1, PTDSS1, PTEN, PTPN11, BBS1, BBS2, BBS4, BBS5, PURA, NECTIN1, PEX5, PYCR1, ALDH18A1, QARS, RAB27A, RAD21, RAF1, RAI1, RALGDS, BCKDHA, RARB, BCKDHB, RASA2, KDM5A, RBBP8, RELN Specificity 1 % Genes 100 %
Hyperphosphatasia with mental retardation syndrome type 3. By Centogene AG - the Rare Disease Company (Germany). PGAP2 Specificity 100 % Genes 100 %
PGAP2. By Fulgent Genetics Fulgent Genetics (United States). PGAP2 Specificity 100 % Genes 100 %

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Sources and references

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