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  3. DNAAF4-CCPG1

DNAAF4-CCPG1 gene related symptoms and diseases

All the information presented here about the DNAAF4-CCPG1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to DNAAF4-CCPG1 gene

Symptoms // Phenotype % Cases
Dyslexia Very Common - Between 80% and 100% cases
Microcephaly Uncommon - Between 30% and 50% cases
Recurrent sinusitis Uncommon - Between 30% and 50% cases
Hypertension Uncommon - Between 30% and 50% cases
Left atrial isomerism Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with DNAAF4-CCPG1 gene alterations may also develop some of the following symptoms and phenotypes:

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

  • Immotile cilia
  • Chronic obstructive pulmonary disease
  • Polysplenia
  • Decreased fertility
  • Respiratory distress
  • Ciliary dyskinesia
  • Dextrocardia
  • Neonatal respiratory distress

And 5 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to DNAAF4-CCPG1 gene

Here you will find a list of rare diseases related to the DNAAF4-CCPG1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


CILIARY DYSKINESIA, PRIMARY, 25; CILD25

Alternate names

CILIARY DYSKINESIA, PRIMARY, 25; CILD25 Is also known as ciliary dyskinesia, primary, 25, with or without situs inversus

Description

Primary ciliary dyskinesia-25 is an autosomal recessive disorder caused by defective ciliary movement. Affected individuals have recurrent upper and lower airway disease, bronchiectasis, and decreased fertility. About half of patients show laterality defects, including situs inversus totalis. Respiratory cilia from patients show defects in the inner and outer dynein arms (summary by Tarkar et al., 2013).For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see {244400}.

Most common symptoms of CILIARY DYSKINESIA, PRIMARY, 25; CILD25

  • Microcephaly
  • Respiratory distress
  • Infertility
  • Dyskinesia
  • Bronchiectasis


More info about CILIARY DYSKINESIA, PRIMARY, 25; CILD25

SOURCES: OMIM

DYSLEXIA, SUSCEPTIBILITY TO, 1; DYX1

Alternate names

DYSLEXIA, SUSCEPTIBILITY TO, 1; DYX1 Is also known as word-blindness, congenital, reading disability, specific, 1

Description

Dyslexia is a disorder manifested by difficulty learning to read despite conventional instruction, adequate intelligence, and sociocultural opportunity. It is among the most common neurodevelopmental disorders, with a prevalence of 5 to 12%. Although there is evidence for familial clustering and heritability, the disorder is considered a complex multifactorial trait (Schumacher et al., 2007). Genetic Heterogeneity of Susceptibility to DyslexiaAdditional dyslexia susceptibility loci include DYX2 (OMIM ) on chromosome 6p22, DYX3 (OMIM ) on chromosome 2p16-p15, DYX5 (OMIM ) on chromosome 3p12-q13, DYX6 (OMIM ) on chromosome 18p11.2, DYX8 (OMIM ) on chromosome 1p36-p34, and DYX9 (OMIM ) on chromosome Xq27.3.See MAPPING for other possible dyslexia susceptibility loci, including DYX4 and DYX7.

Most common symptoms of DYSLEXIA, SUSCEPTIBILITY TO, 1; DYX1

  • Hypertension
  • Neurological speech impairment
  • Dyslexia


More info about DYSLEXIA, SUSCEPTIBILITY TO, 1; DYX1

SOURCES: OMIM



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