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

SOURCES: OMIM ORPHANET

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


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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