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.
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
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).
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
Search interest in HAAO
Potential gene panels for HAAO gene
HAAO Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the HAAO gene.
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PRKRA ITK PGR ADNP CYP3A5 SNORD118