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  1. Mendelian
  2. Rare Disease Genes
  3. AMMECR1

AMMECR1 gene related symptoms and diseases

All the information presented here about the AMMECR1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to AMMECR1 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Malar flattening Very Common - Between 80% and 100% cases
Hearing impairment Very Common - Between 80% and 100% cases
Strabismus Very Common - Between 80% and 100% cases
Sensorineural hearing impairment Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with AMMECR1 gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Abnormal facial shape
  • Elliptocytosis
  • Patent ductus arteriosus
  • Thin vermilion border
  • Midface retrusion
  • Downslanted palpebral fissures

  • Not very common - Between 30% and 50% cases

  • Macrocephaly
  • Myopia

And 55 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to AMMECR1 gene

Here you will find a list of rare diseases related to the AMMECR1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS; MFHIEN

Description

Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis is an X-linked recessive disorder with onset of features in early childhood. Anemia is sometimes present. Some patients may show mild early motor or speech delay, but cognition is normal (summary by Andreoletti et al., 2017).

Most common symptoms of MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS; MFHIEN

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia
More info about MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS; MFHIEN

SOURCES: OMIM

ALPORT SYNDROME-INTELLECTUAL DISABILITY-MIDFACE HYPOPLASIA-ELLIPTOCYTOSIS SYNDROME

Alternate names

ALPORT SYNDROME-INTELLECTUAL DISABILITY-MIDFACE HYPOPLASIA-ELLIPTOCYTOSIS SYNDROME Is also known as ats-mr, chromosome xq22.3 telomeric deletion syndrome, amme syndrome, alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis, amme complex

Description

Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome is characterised by the association of Alport syndrome, midface hypoplasia, intellectual deficit and elliptocytosis. It has been described in two families. The syndrome is transmitted as an X-linked trait is caused by a contiguous gene deletion in Xq22.3 involving several genes including COL4A5, FACL4 and AMMECR1.

Most common symptoms of ALPORT SYNDROME-INTELLECTUAL DISABILITY-MIDFACE HYPOPLASIA-ELLIPTOCYTOSIS SYNDROME

  • Intellectual disability
  • Hearing impairment
  • Strabismus
  • Sensorineural hearing impairment
  • Abnormal facial shape
More info about ALPORT SYNDROME-INTELLECTUAL DISABILITY-MIDFACE HYPOPLASIA-ELLIPTOCYTOSIS SYNDROME

SOURCES: ORPHANET OMIM

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