Histidinuria Due To A Renal Tubular Defect

Description

Histidinemia is a rare metabolic disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions.

Genes related to Histidinuria Due To A Renal Tubular Defect

Clinical Features

Top most frequent phenotypes and symptoms related to Histidinuria Due To A Renal Tubular Defect

Intellectual disability
Sensorineural hearing impairment
Wide nasal bridge
Long philtrum
Macrotia
Thin upper lip vermilion
Smooth philtrum
Generalized myoclonic seizures
Hypoplastic toenails
Short middle phalanx of finger

And another 3 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Not enough data available about incidence and published cases.

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Histidinuria Due To A Renal Tubular Defect Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Histidinemia (sequence analysis of HAL gene). By CGC Genetics in Portugal. HAL Specificity 100 % Genes 100 %
qCarrier Plus. By Quantitative Genomic Medicine Laboratories, SL in Spain. F2, F5, FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, AIPL1, ALDOB, USH1G, PC, USH1C, ARG1, HLCS, BTD , (...) View the complete list with 280 more genes Panel GTR000552567 complete gene list F2, F5, FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, AIPL1, ALDOB, USH1G, PC, USH1C, ARG1, HLCS, BTD, ATP7B, BCKDHA, BCKDHB, GAA, HBB, RAX, TYRP1, SLC45A2, TYR, GPR143, MTRR, CPS1, CPT2, GNPTAB, GLB1, OCRL, ABCA4, NDP, CNGB3, TMEM67, NPHP1, CEP290, CLRN1, USH2A, PCDH15, DLD, SLC25A13, PANK2, HADHA, FH, TULP1, RPGR, RPE65, GUCY2D, CRB1, MECP2, SLC26A4, WHRN, CDH23, IDH3B, ACSF3, PDHB, DHDDS, PDE6A, CNGB1, RS1, FAH, HMGCL, TAT, G6PC, CNGA1, RDH12, SUCLA2, P3H1, HAX1, TUFM, TSFM, CTSD, ACADSB, CERKL, SPG7, PCCB, GLDC, AMT, EYS, ETHE1, MYO7A, AGPS, RP2, OTC, ACSL4, ABCD1, MMADHC, LMBRD1, HEXA, HEXB, ACOX1, PTS, PAH, AGXT, SURF1, CPT1A, GALNS, GNS, HGSNAT, NAGLU, SGSH, MCEE, MMAB, MUT, DBT, MAN2B1, MLYCD, SUCLG1, GALC, IVD, ALDH4A1, GBE1, ETFB, ETFA, ETFDH, GCDH, GALT, GALE, GALK1, FXN, LRPPRC, SLC3A1, ASS1, CYP27A1, SLC22A5, SLC25A20, PMM2, MKS1, BBS10, BBS1, BBS2, ASL, TPP1, CLN3, CYP17A1, SLC6A8, NR2E3, ABCD4, ADA, AGA, AHCY, ARSB, GNMT, IL2RG, AIRE, AR, ARSA, ASPA, ARX, CFTR, FANCC, GBA, DHCR7, DMD, GJB2, GLA, IDS, IDUA, LDLR, LIPA, NPC1, NPC2, PLOD1, PLP1, POU3F4, RMRP, SMN1, ATM, NBN, CLN6, CLN8, HBA1, LAMB3, FKTN, G6PD, NEB, CTNS, PROP1, NPHS1, PPT1, PEX7, SGCA, SGCB, SERPINA1, SACS, SLC26A2, UGT1A1, TH, GRHPR, MCOLN1, MPL, PEX1, TTPA, CAPN3, CLN5, LAMC2, PKHD1, TMEM216, NDRG1, SH3TC2, MTMR2, GDAP1, ZFYVE26, SPG11, AHI1, CLCN1, FKRP, DYSF, KCNJ11, GNRHR, CYP21A2, COL4A4, BSND, L1CAM, SPART, TNNT1, POMT2, POMT1, DCX, PQBP1, MFSD8, ATRX, IQSEC2, FGD1, GRIA3, PAK3, KDM5C, SYN1, OPHN1, CASK, CUL4B, OTOF, POLR1C, STRC, SLC4A11, TMPRSS3, PRPS1, TMC1, GJB3, PEX6, TMIE, TRIOBP, TPRN, AP1S2, NLGN4X, PEX10, MVK, PHF8, HUWE1, AFF2, UPF3B, USP9X, GDI1, FTSJ1, RPS6KA3, BRWD3, SLC16A2, IL1RAPL1, THOC2, TRDN, CASQ2, CHST6, DNAH5, PGK1, F11, THRB, JAK3, F9, F8, FANCA, ARL13B, EVC2, SLC46A1, PCBD1, LDLRAP1, CD40LG, SLC39A4, COL7A1, TFR2, HOGA1, HJV, PAX8, DUOXA2, DUOX2, SLC5A5, TPO, SLC6A19, WNT10A, HGD, HAL, CTH, ADK, FTCD, MPP3 Specificity 1 % Genes 100 %
HAL. By Fulgent Genetics Fulgent Genetics in United States. HAL Specificity 100 % Genes 100 %
Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel. By Otogenetics in United States. USH1G, USH1C, BCS1L, PDZD7, EYA4, WFS1, JAG1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MSRB3, MYO7A, TIMM8A, SOX2, FGFR3 , (...) View the complete list with 109 more genes Panel GTR000552366 complete gene list USH1G, USH1C, BCS1L, PDZD7, EYA4, WFS1, JAG1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MSRB3, MYO7A, TIMM8A, SOX2, FGFR3, GJB2, GJB6, POU3F4, PMP22, GJB1, MT-TL1, MT-TK, BSND, NR2F1, KCNJ10, ACTB, ACTG1, ATP6V1B2, ATP6V1B1, COCH, CLDN14, CCDC50, COL9A3, GIPC3, HGF, ERCC2, ERCC3, MYO3A, MYO6, MYO15A, GRHL2, COL9A2, COL11A2, CRYM, ILDR1, OTOF, DSPP, PJVK, MARVELD2, DIAPH1, PAX3, EDNRA, EDNRB, KCNQ4, ESPN, P2RX2, SIX5, SNAI2, SLC17A8, SERPINB6, STRC, SLC4A11, MT-TS1, MT-TS2, TECTA, TMPRSS3, CEMIP, PRPS1, KCNE1, KCNQ1, PTPRQ, RDX, SIX1, SMPX, TMC1, GSDME, ESRRB, FGF3, FOXI1, GJB3, GATA3, LRTOMT, LHFPL5, MYH14, MYH9, OTOA, POU4F3, SLC26A5, TJP2, TMIE, TRIOBP, LOXHD1, GRXCR1, TPRN, CEACAM16, MT-RNR1, GPSM2, CATSPER2, MITF, LHX3, GJA1, MYO1A, MT-TI, MT-TH, MT-TQ, MT-TD, MT-TM, MT-TL2, FAS, SPINK5, GJB4, MTAP, ECE1, HAL, TCF21, GSTP1, TBL1X, TMPRSS5, MYO1C, MYO1F, OTOR, MIR182, TFCP2, MIR183 Specificity 1 % Genes 100 %

Alternate names

Histidinuria Due To A Renal Tubular Defect Is also known as ;hal deficiency; his deficiency; histidase deficiency; histidine ammonia-lyase deficiency; histidinuria; hyperhistidinemia.

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