Histidinemia

Description

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

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.


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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
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
Specificity
1 %
Genes
100 %

We have -4 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like USHER SYNDROME, TYPE IIA; USH2A POROKERATOSIS 2, PALMAR, PLANTAR, AND DISSEMINATED TYPE; POROK2

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