Hypermanganesemia With Dystonia 2; Hmndyt2

Description

Hypermanganesemia with dystonia-2 is an autosomal recessive neurodegenerative disorder characterized predominantly by loss of motor milestones in the first years of life. Affected individuals then develop rapidly progressive abnormal movements, including dystonia, spasticity, bulbar dysfunction, and variable features of parkinsonism, causing loss of ambulation. Cognition may be impaired, but is better preserved than motor function. The disorder results from abnormal accumulation of manganese (Mn), which is toxic to neurons. Chelation therapy, if started early, may provide clinical benefit (summary by Tuschl et al., 2016).For a discussion of genetic heterogeneity of HMNDYT, see HMNDYT1 (OMIM ).

Genes related to Hypermanganesemia With Dystonia 2; Hmndyt2

SLC39A14

Clinical Features

Top most frequent phenotypes and symptoms related to Hypermanganesemia With Dystonia 2; Hmndyt2

Intellectual disability
Global developmental delay
Generalized hypotonia
Scoliosis
Cognitive impairment
Spasticity
Flexion contracture
Gait disturbance
Tremor
Cerebellar atrophy

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Incidence and onset information

— Not enough data available about incidence and published cases.

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Hypermanganesemia With Dystonia 2; Hmndyt2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Dystonia Exome Panel. By Genetic Services Laboratory University of Chicago in United States. AARS2, UQCRQ, ATP7B, AUH, BCS1L, PSEN1, GLB1, HPRT1, POLG, NDUFS4, AFG3L2, FOXRED1, NDUFAF2, PANK2, MECP2, NDUFA12, NDUFA9, TTC19, NDUFA10, SCP2 , (...) View the complete list with 150 more genes Panel GTR000553219 complete gene list AARS2, UQCRQ, ATP7B, AUH, BCS1L, PSEN1, GLB1, HPRT1, POLG, NDUFS4, AFG3L2, FOXRED1, NDUFAF2, PANK2, MECP2, NDUFA12, NDUFA9, TTC19, NDUFA10, SCP2, GAMT, SPR, STXBP1, SUCLA2, COQ8A, HTRA2, CTSD, GRN, PARK7, PINK1, SQSTM1, PDHA1, TIMM8A, MMADHC, HEXA, GM2A, SUOX, PTS, QDPR, NDUFA2, COX15, SURF1, NDUFS8, NDUFS7, NDUFS3, NDUFAF6, SDHAF1, NDUFS1, NDUFV1, NDUFS2, NDUFAF5, MCEE, MMAB, MMAA, MUT, DLAT, L2HGDH, CBS, GCDH, LRPPRC, CYP27A1, PRKN, APTX, TPP1, CLN3, PNKD, TACO1, SLC6A8, PDHX, SDHA, ARSA, ARX, FOXG1, NPC1, NPC2, PLP1, SLC2A1, ATM, CLN6, CLN8, PPT1, TH, MLC1, CLN5, PLA2G6, TOR1A, THAP1, GCH1, SGCE, BSCL2, FA2H, ALS2, ATP1A2, ATP1A3, SLC19A3, SYNJ1, TBC1D24, PRRT2, COL4A1, CTSF, DNAJC5, MFSD8, ATP13A2, GNAO1, WDR45, SCN8A, PNKP, SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, VPS13A, FUCA1, TAF1, SLC16A2, AARS, NKX2-1, TOR1AIP1, HACE1, IFIH1, C19orf12, TUBB4A, ADAR, FTL, CP, COASY, DCAF17, COX10, CSF1R, TPK1, SLC20A2, FBXO7, EARS2, DDC, SLC6A3, VPS35, XK, TPI1, PRKRA, DNAJC12, MICU1, HEPACAM, COX20, PDGFRB, PDGFB, SERAC1, CLPB, MDH2, KMT2B, MECR, TBCD, UBA5, VAC14, SLC39A14, DNAJC6, GNB1, HIVEP2, ANO3, XPR1, HPCA, KCTD17, LIPT1, ECHS1, BCAP31, GNAL, ADCY5, SLC30A10, ACY1, NUP62 Specificity 1 % Genes 100 %
Dystonia. By Asper Biogene Asper Biogene LLC in Estonia. ATP7B, PANK2, SPR, TIMM8A, GCDH, PRKN, PNKD, ARSA, SLC2A1, ATM, TH, PLA2G6, TOR1A, THAP1, GCH1, SGCE, COL6A3, ATP1A3, KCNMA1, PRRT2 , (...) View the complete list with 18 more genes Panel GTR000530097 complete gene list ATP7B, PANK2, SPR, TIMM8A, GCDH, PRKN, PNKD, ARSA, SLC2A1, ATM, TH, PLA2G6, TOR1A, THAP1, GCH1, SGCE, COL6A3, ATP1A3, KCNMA1, PRRT2, RELN, GNAO1, ACTB, TAF1, TUBB4A, DRD2, SLC6A3, PRKRA, SLC25A1, TBCE, SLC39A14, ANO3, HPCA, KCTD17, GNAL, ADCY5, SLC30A10, CACNA1B Specificity 3 % Genes 100 %
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing. By NBIA Testing Center Oregon Health & Science University in United States. TRIM32, PANK2, SCP2, SQSTM1, PLA2G6, KIF1A, FA2H, ATP13A2, WDR45, VPS13A, FUCA1, C19orf12, FTL, CP, COASY, DCAF17, KMT2B, MECR, SLC39A14 Specificity 6 % Genes 100 %
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing and Deletion/Duplication. By NBIA Testing Center Oregon Health & Science University in United States. TRIM32, PANK2, SCP2, SQSTM1, PLA2G6, KIF1A, FA2H, ATP13A2, WDR45, VPS13A, FUCA1, C19orf12, FTL, CP, COASY, DCAF17, KMT2B, MECR, SLC39A14 Specificity 6 % Genes 100 %
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Deletion/Duplication. By NBIA Testing Center Oregon Health & Science University in United States. TRIM32, PANK2, SQSTM1, PLA2G6, KIF1A, FA2H, ATP13A2, WDR45, VPS13A, FUCA1, C19orf12, FTL, CP, COASY, DCAF17, SLC39A14 Specificity 7 % Genes 100 %
SLC39A14. By Fulgent Genetics Fulgent Genetics in United States. SLC39A14 Specificity 100 % Genes 100 %
SLC39A14-Related Early-Onset Dystonia-Parkinsonism: gene sequencing. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. SLC39A14 Specificity 100 % Genes 100 %

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