HIST1H1E gene related symptoms and diseases

All the information presented here about the HIST1H1E gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to HIST1H1E gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Camptodactyly Very Common - Between 80% and 100% cases
Accelerated skeletal maturation Very Common - Between 80% and 100% cases
Amblyopia Very Common - Between 80% and 100% cases
Overgrowth Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with HIST1H1E gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Nevus
  • Full cheeks
  • Astigmatism
  • Talipes
  • Telecanthus
  • Global developmental delay
  • Neonatal hypotonia
  • Kyphoscoliosis

And 7 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to HIST1H1E gene

Here you will find a list of rare diseases related to the HIST1H1E. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


RAHMAN SYNDROME; RMNS


Description

Rahman syndrome is characterized by mild to severe intellectual disability associated with variable somatic overgrowth manifest as increased birth length, height, weight, and/or head circumference. The overgrowth is apparent in infancy and may lessen with time or persist. The phenotype is highly variable; some individuals may have other minor anomalies, including dysmorphic facial features, strabismus, or camptodactyly. The disorder is thought to result from a defect in epigenetic regulation (summary by Tatton-Brown et al., 2017).

Most common symptoms of RAHMAN SYNDROME; RMNS

  • Intellectual disability
  • Global developmental delay
  • Strabismus
  • Abnormal facial shape
  • Macrocephaly


More info about RAHMAN SYNDROME; RMNS

SOURCES: OMIM


Potential gene panels for HIST1H1E gene

HIST1H1E Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the HIST1H1E gene.

More info about this panel

Focus::CLL™ NGS Panel Panel

United States.

By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::CLL™ NGS Panel that also includes the following genes: SF3B1 BRAF BTK MED12 TP53 TRAF2 XPO1 ZMYM3 IKZF3 CARD11

More info about this panel

FoundationOne® Heme Panel

United States.

By Foundation Medicine, Inc. FoundationOne® Heme that also includes the following genes: BCL6 BCL7A ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1

More info about this panel

Tempus xT assay Panel

United States.

By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA

More info about this panel

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel


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