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Hypomyelination with atrophy of basal ganglia and cerebellum
1 OMIM reference -
1 associated gene
34 connected diseases
No signs/symptoms info
Disease Type of connection
Primary dystonia, DYT4 type
Common variable immunodeficiency
Hypohidrotic ectodermal dysplasia with immunodeficiency
Giant cell glioblastoma
Gliosarcoma
Young adult-onset Parkinsonism
46,XY complete gonadal dysgenesis
46,XY partial gonadal dysgenesis
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Autosomal dominant hypohidrotic ectodermal dysplasia
Herpetic encephalitis
Incontinentia pigmenti
Intermittent hydrarthrosis
TRAPS syndrome
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
Anaplastic ependymoma
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
CLN8 disease
Craniometaphyseal dysplasia
Dedifferentiated liposarcoma
Glycogen storage disease due to liver phosphorylase kinase deficiency
Hypoplastic left heart syndrome
Kostmann syndrome
Oculodentodigital dysplasia
Progressive epilepsy - intellectual deficit, Finnish type
Pseudohypoaldosteronism type 2E
Syndactyly type 3
Well-differentiated liposarcoma
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
Infantile Refsum disease
Neonatal adrenoleukodystrophy
Zellweger syndrome
Congenital atransferrinemia
Hereditary pheochromocytoma-paraganglioma
Synonym(s):
- H-ABC
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
TUBB4A P04350602662
No signs/symptoms info available.