PIBF1 gene related symptoms and diseases
All the information presented here about the PIBF1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to PIBF1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Global developmental delay | Very Common - Between 80% and 100% cases |
| Ataxia | Very Common - Between 80% and 100% cases |
| Apnea | Very Common - Between 80% and 100% cases |
| Intellectual disability | Uncommon - Between 30% and 50% cases |
| Foot polydactyly | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with PIBF1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Aganglionic megacolon
- Situs inversus totalis
- Oculomotor apraxia
- Aplasia/Hypoplasia of the corpus callosum
- Hand polydactyly
- Abnormality of neuronal migration
- Biparietal narrowing
- Abnormal pattern of respiration
And 31 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to PIBF1 gene
Here you will find a list of rare diseases related to the PIBF1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
JOUBERT SYNDROME
Alternate names
JOUBERT SYNDROME Is also known as cerebelloparenchymal disorder iv, joubert syndrome type a, classic joubert syndrome, pure joubert syndrome, cpd iv, joubert-boltshauser syndrome
Description
Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.
Most common symptoms of JOUBERT SYNDROME
- Intellectual disability
- Seizures
- Global developmental delay
- Scoliosis
- Ataxia
More info about JOUBERT SYNDROME
SOURCES: ORPHANET
JOUBERT SYNDROME 33; JBTS33
Description
Joubert syndrome represents a classic ciliopathy characterized by hypotonia, ataxia, cognitive impairment, and a distinctive brain malformation, the 'molar tooth sign.' In addition, retinal dystrophy, cystic kidney disease, liver fibrosis, and polydactyly occur in a subset of patients (summary by Wheway et al., 2015).For a discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (OMIM ).
Most common symptoms of JOUBERT SYNDROME 33; JBTS33
- Global developmental delay
- Generalized hypotonia
- Ataxia
- Cognitive impairment
- Polydactyly
More info about JOUBERT SYNDROME 33; JBTS33
SOURCES: OMIM
Search interest in PIBF1
Potential gene panels for PIBF1 gene
Joubert and Meckel-Gruber Syndromes Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Joubert and Meckel-Gruber Syndromes Sequencing Panel with CNV Detection that also includes the following genes: CEP41 TMEM237 SUFU ZNF423 KIF14 KIAA0586 ARMC9 INPP5E AHI1 PIBF1
More info about this panel United States.
Joubert syndrome and related disorders NGS panel Panel
United States.
By Connective Tissue Gene Tests Joubert syndrome and related disorders NGS panel that also includes the following genes: CEP41 TMEM237 SUFU ZNF423 KIF14 KIAA0586 ARMC9 INPP5E AHI1 PIBF1
More info about this panel United States.
Joubert syndrome and related disorders Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Joubert syndrome and related disorders Deletion / Duplication panel that also includes the following genes: CEP41 TMEM237 SUFU ZNF423 KIF14 KIAA0586 ARMC9 INPP5E AHI1 PIBF1
More info about this panel United States.
Joubert syndrome and related disorders Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Joubert syndrome and related disorders Comprehensive panel that also includes the following genes: CEP41 TMEM237 SUFU ZNF423 KIF14 KIAA0586 ARMC9 INPP5E AHI1 PIBF1
More info about this panel United States.
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