HAAO gene related symptoms and diseases

All the information presented here about the HAAO 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.

Top 5 symptoms and clinical features associated to HAAO gene

Symptoms // Phenotype % Cases
Microcephaly Very Common - Between 80% and 100% cases
Talipes Very Common - Between 80% and 100% cases
Hypoplastic left heart Very Common - Between 80% and 100% cases
Renal hypoplasia Very Common - Between 80% and 100% cases
Absence of the sacrum Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with HAAO gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Spinal dysraphism
  • Butterfly vertebrae
  • Laryngotracheomalacia
  • Cleft palate
  • Tethered cord
  • Mitral stenosis
  • Lipoma
  • Hypoplastic sacrum

And 20 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to HAAO gene

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


CONGENITAL VERTEBRAL-CARDIAC-RENAL ANOMALIES SYNDROME


Alternate names

CONGENITAL VERTEBRAL-CARDIAC-RENAL ANOMALIES SYNDROME Is also known as congenital nad deficiency disorder, congenital nad deficiency disorder 2, kynureninase deficiency, complete

Description

VCRL2 is an autosomal recessive congenital malformation syndrome characterized by vertebral segmentation abnormalities, congenital cardiac defects, renal, and distal mild limb defects. Additional features are variable (summary by Shi et al., 2017).For a discussion of genetic heterogeneity of VCRL, see VCRL1 (OMIM ).

Most common symptoms of CONGENITAL VERTEBRAL-CARDIAC-RENAL ANOMALIES SYNDROME

  • Microcephaly
  • Low-set ears
  • Delayed speech and language development
  • Frontal bossing
  • Syndactyly


More info about CONGENITAL VERTEBRAL-CARDIAC-RENAL ANOMALIES SYNDROME

SOURCES: ORPHANET OMIM

VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1; VCRL1


Alternate names

VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1; VCRL1 Is also known as 3-hydroxyanthranilic acidemia, congenital nad deficiency disorder 1

Description

VCRL1 is an autosomal recessive congenital malformation syndrome characterized by vertebral segmentation abnormalities, congenital cardiac defects, renal defects, and distal mild limb defects. Additional features are variable (summary by Shi et al., 2017). Genetic Heterogeneity of vertebral, cardiac, renal, and limb defects syndromeSee also VCRL2 (OMIM ), caused by mutation in the KYNU gene (OMIM ) on chromosome 2q22.

Most common symptoms of VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1; VCRL1

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


More info about VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1; VCRL1

SOURCES: OMIM


Potential gene panels for HAAO gene

HAAO Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the HAAO gene.

More info about this panel


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