Histidinemia

Table of contents:

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

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 Histidinemia

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Histidinemia

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

— 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

Histidinemia Is also known as his deficiency, histidinuria, histidase deficiency, hyperhistidinemia, hal deficiency, histidine ammonia-lyase deficiency.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Histidinemia Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Histidinemia (sequence analysis of HAL gene). By CGC Genetics (Portugal). HAL Specificity 100 % Genes 100 %
qCarrier Plus. By Quantitative Genomic Medicine Laboratories, SL (Spain). RMRP, RP2, RPE65, RPGR, RPS6KA3, RS1, SACS, SGCA, SGCB, SGSH, SLC16A2, SLC22A5, SLC25A13, SLC26A2, SLC3A1, SLC5A5, SLC6A8, KDM5C, SMN1, BTD , (...) View the complete list with 278 more genes Panel complete gene list RMRP, RP2, RPE65, RPGR, RPS6KA3, RS1, SACS, SGCA, SGCB, SGSH, SLC16A2, SLC22A5, SLC25A13, SLC26A2, SLC3A1, SLC5A5, SLC6A8, KDM5C, SMN1, BTD, SPG11, SPG7, SUCLA2, SUCLG1, SURF1, SYN1, TAT, TFR2, TH, THRB, TMPRSS3, ACOX1, CD40LG, TNNT1, TPO, TRDN, TSFM, TTPA, TUFM, TULP1, TYR, TYRP1, UGT1A1, USH1C, USH2A, CLRN1, USP9X, FTSJ1, DUOX2, MCOLN1, CDH23, WNT10A, SLC25A20, NLGN4X, NPC2, PCDH15, CAPN3, CASK, CASQ2, LRPPRC, PANK2, GDAP1, STRC, USH1G, WHRN, SLC4A11, SLC45A2, BSND, TMC1, MCEE, HAX1, TRIOBP, SLC39A4, BRWD3, FKRP, ARX, SPART, ADA, LDLRAP1, RAX, CFTR, THOC2, P3H1, MMAB, POMT2, EVC2, RDH12, GPR143, CLCN1, POLR1C, UPF3B, DHDDS, PHF8, TPP1, CLN3, CLN5, ZFYVE26, CLN6, CLN8, CNGA1, CNGB1, CNGB3, EYS, AHI1, CERKL, COL4A4, COL7A1, LMBRD1, CPT1A, ETHE1, CPT2, CRB1, CTH, TMEM216, HOGA1, CTNS, MMADHC, CTSD, ARL13B, CUL4B, ADK, CYP17A1, CYP21A2, CYP27A1, BBS10, HGSNAT, TPRN, DBT, DCX, ACSF3, SLC6A19, TMEM67, MFSD8, DHCR7, DLD, CEP290, IQSEC2, DMD, SH3TC2, DNAH5, GNPTAB, SLC46A1, TMIE, HUWE1, DYSF, AGA, AGL, DUOXA2, AGPS, ABCA4, AGXT, AHCY, ETFA, ETFB, ETFDH, F11, F2, F5, F8, F9, ACSL4, FAH, FANCA, FANCC, AIPL1, AIRE, FKTN, FGD1, FH, FMR1, AFF2, FXN, FTCD, G6PC, G6PD, ALDH4A1, GAA, GALC, GALE, GALK1, GALNS, GALT, ALDOB, GBA, GBE1, GCDH, ABCB11, GDI1, GJB2, GLA, GLB1, GLDC, GNMT, GNRHR, GNS, GRHPR, GRIA3, GUCY2D, AMT, HADHA, HAL, HBA1, HBB, HEXA, HEXB, HJV, HGD, HLCS, HMGCL, IDH3B, IDS, IDUA, AP1S2, IL1RAPL1, IL2RG, ABCD1, IVD, JAK3, KCNJ11, AR, L1CAM, LAMB3, LAMC2, LDLR, LIPA, ARG1, ABCD4, MAN2B1, MCCC1, MCCC2, CHST6, MECP2, MKS1, ARSA, ARSB, MLYCD, MPL, MPP3, MTHFR, MTMR2, ASL, MTRR, MMUT, MVK, ASPA, ASS1, MYO7A, NAGLU, NBN, NDP, NDRG1, NEB, NPC1, NPHP1, NPHS1, ATM, NR2E3, OCRL, OPHN1, OTC, OTOF, PAH, PAK3, PAX8, PC, PCBD1, PCCB, ATP7B, PDE6A, PDHB, SLC26A4, PEX1, PEX10, PEX6, ATRX, PEX7, PGK1, ACADM, SERPINA1, ACADS, PKHD1, PLOD1, PLP1, ACADSB, PMM2, ACADVL, POMT1, POU3F4, ACAT1, PPT1, PQBP1, PROP1, PRPS1, BBS1, BBS2, PTS, BCKDHA, BCKDHB Specificity 1 % Genes 100 %
HAL. By Fulgent Genetics Fulgent Genetics (United States). HAL Specificity 100 % Genes 100 %
Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel. By Otogenetics (United States). BCS1L, SIX1, SIX5, SNAI2, SMPX, SOX2, TBL1X, TCF21, TECTA, TFCP2, TIMM8A, TJP2, TMPRSS3, FAS, USH1C, USH2A, CLRN1, WFS1, ACTB, ESPN , (...) View the complete list with 108 more genes Panel complete gene list BCS1L, SIX1, SIX5, SNAI2, SMPX, SOX2, TBL1X, TCF21, TECTA, TFCP2, TIMM8A, TJP2, TMPRSS3, FAS, USH1C, USH2A, CLRN1, WFS1, ACTB, ESPN, CDH23, ACTG1, PCDH15, TMPRSS5, P2RX2, SPINK5, STRC, USH1G, WHRN, OTOA, SLC4A11, BSND, TMC1, TRIOBP, ADGRV1, CCDC50, GIPC3, CATSPER2, SLC17A8, CLDN14, LHFPL5, COCH, COL11A2, COL9A2, COL9A3, MYH14, CRYM, LRTOMT, PDZD7, MARVELD2, LOXHD1, TPRN, MSRB3, GRHL2, GSDME, ILDR1, DIAPH1, CEMIP, GPSM2, PJVK, DSPP, TMIE, ECE1, MIR182, MIR183, GRXCR1, EDNRA, EDNRB, CEACAM16, ERCC2, ERCC3, ESRRB, EYA4, FGF3, FGFR3, FOXI1, GATA3, GJA1, GJB1, GJB2, GJB4, GJB6, GSTP1, HAL, HGF, JAG1, KCNE1, KCNJ10, KCNQ1, KCNQ4, LHX3, MITF, MTAP, MT-RNR1, MT-TD, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TQ, MT-TS1, MT-TS2, MYH9, MYO15A, MYO1A, MYO1C, MYO1F, MYO3A, MYO6, MYO7A, NDP, NR2F1, OTOF, OTOR, ATP6V1B1, ATP6V1B2, PAX3, SLC26A4, SERPINB6, PMP22, POU3F4, POU4F3, SLC26A5, PRPS1, PTPRQ, RDX Specificity 1 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Search Engine

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