UBE3B gene related symptoms and diseases
All the information presented here about the UBE3B gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to UBE3B gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Preauricular skin tag | Very Common - Between 80% and 100% cases |
| Smooth philtrum | Very Common - Between 80% and 100% cases |
| Dry skin | Very Common - Between 80% and 100% cases |
| Long face | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with UBE3B gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Hirsutism
- Microcornea
- Abdominal distention
- Epidermal acanthosis
- Hypertrichosis
- Insulin resistance
- Narrow face
- Telecanthus
And 152 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to UBE3B gene
Here you will find a list of rare diseases related to the UBE3B. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
OCULOCEREBROFACIAL SYNDROME, KAUFMAN TYPE
Alternate names
OCULOCEREBROFACIAL SYNDROME, KAUFMAN TYPE Is also known as mendenhall syndrome, rabson-mendenhall syndrome
Description
Oculocerebrofacial syndrome, Kaufman type is characterized by psychomotor retardation, microcephaly, upslanting palpebral fissures, eye abnormalities (microcornea, strabismus, myopia, optic atrophy), high-arched palate, preauricular skin tags and micrognathia with respiratory distress. It has been described in about 10 cases. Other anomalies can be present: long thin hands and feet, ambiguous genitalia, hypertelorism, etc. An autosomal recessive mode of inheritance seems most likely.
Most common symptoms of OCULOCEREBROFACIAL SYNDROME, KAUFMAN TYPE
- Intellectual disability
- Global developmental delay
- Short stature
- Microcephaly
- Growth delay
More info about OCULOCEREBROFACIAL SYNDROME, KAUFMAN TYPE
KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS
Alternate names
KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS Is also known as blepharophimosis-ptosis-intellectual disability syndrome, bpids
Most common symptoms of KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
More info about KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS
SOURCES: OMIM
Search interest in UBE3B
Potential gene panels for UBE3B gene
Blepharophimosis-ptosis-intellectual disability syndrome (sequence analysis of UBE3B gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the UBE3B gene.
More info about this panel Portugal.
Mental retardation - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
More info about this panel Germany.
UBE3B Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the UBE3B gene.
More info about this panel United States.
Kaufman Oculocerebrofacial Syndrome , Sequencing UBE3B Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the UBE3B gene.
More info about this panel Spain.
Kaufman Oculocerebrofacial Syndrome: gene sequencing Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the UBE3B gene.
More info about this panel Canada.
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