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  3. UFM1

UFM1 gene related symptoms and diseases

All the information presented here about the UFM1 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.

Table of contents:

Top 5 symptoms and clinical features associated to UFM1 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Spasticity Very Common - Between 80% and 100% cases
CNS hypomyelination Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Leukodystrophy Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with UFM1 gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Dystonia
  • Cerebellar atrophy
  • Optic atrophy
  • Absent speech
  • Microcephaly
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment

And 61 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to UFM1 gene

Here you will find a list of rare diseases related to the UFM1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


HYPOMYELINATION WITH ATROPHY OF BASAL GANGLIA AND CEREBELLUM

Alternate names

HYPOMYELINATION WITH ATROPHY OF BASAL GANGLIA AND CEREBELLUM Is also known as leukodystrophy, hypomyelinating, with atrophy of the basal ganglia and cerebellum, habc, h-abc

Description

Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria.

Most common symptoms of HYPOMYELINATION WITH ATROPHY OF BASAL GANGLIA AND CEREBELLUM

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


More info about HYPOMYELINATION WITH ATROPHY OF BASAL GANGLIA AND CEREBELLUM

SOURCES: MESH ORPHANET OMIM

LEUKODYSTROPHY, HYPOMYELINATING, 14; HLD14

Description

Hypomyelinating leukodystrophy-14 is an autosomal recessive neurodevelopmental disorder characterized by hypotonia, almost complete lack of motor or cognitive skills, and absent language development. Additional features include spasticity and intractable seizures; many patients also have perceptive hearing loss and/or blindness. Most patients require tube feeding or ventilatory support, and most die in the first years of life. Brain imaging shows hypomyelination, small caudate and putamen, and cerebral and cerebellar atrophy (summary by Hamilton et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of hypomyelinating leukodystrophy, see {312080}.

Most common symptoms of LEUKODYSTROPHY, HYPOMYELINATING, 14; HLD14

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


More info about LEUKODYSTROPHY, HYPOMYELINATING, 14; HLD14

SOURCES: OMIM


Potential gene panels for UFM1 gene

UFM1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the UFM1 gene.

More info about this panel
United States.

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