Disease #00144 (BPAN (Beta-propeller Protein-associated Neurodegeneration), OMIM:300894)

Official abbreviation BPAN
Name Beta-propeller Protein-associated Neurodegeneration
OMIM ID 300894
Human Phenotype Ontology Project (HPO) HPO
Inheritance X-linked dominant
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene WDR45
Associated tissues brain
Disease features -
Remarks -


Individuals

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00000760 Shen-Yang Lim et al.(2018) F Malaysia Indian - - - BPAN Brain MRI scans shows bilateral T2 hypointensity in the substantia nigra, mild thinning of the posterior corpus callosum, cerebral peduncle and globus pallidus has developed bilaterally. There is a “slit” of T1 hypointensity in the nigra with a faint rim of hyperintensity, the so-called “halo” sign, as well as global cerebral atrophy and cerebellar atrophy. WDR45 WDR45 1 1 Nur Aisyah Athirah
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