Disease #01155 (NBIA5 (neurodegeneration, with brain iron accululation, type 5 (NBIA5)), OMIM:300894)

Official abbreviation	NBIA5
Name	neurodegeneration, with brain iron accululation, type 5 (NBIA5)
OMIM ID	300894
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	X-linked dominant
Individuals reported having this disease	4
Phenotype entries for this disease	1
Associated with 1 gene	WDR45
Associated tissues	-
Disease features	global developmental delay in early childhood, slow motor and cognitive gains until adolescence or early adulthood, when dystonia, parkinsonism, and dementia manifests; MRI brain pattern characteristic of high iron: markedly hypointense signal on T2-weighted sequences substantia nigra and globus pallidus, cerebral atrophy, T1 hyperintensity surrounding central linear region of signal hypointensity within substantia nigra and cerebral peduncles
Remarks	possibly male lethal, somatic mosaicism in males, skewed X-inactivation in females
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2020-05-30 16:30:37 +02:00 (CEST)

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ID_report: ID of the individual that can be publically shared, e.g. as listed in a publication

Reference: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"

Remarks: remarks about the individual

Gender: gender individual
All options:

? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male

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likely = consanguinity likely
? = unknown
- = not applicable

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Population: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.

Age at death: age at which the individual deceased (when applicable):

35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

VIP: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.

Data_av: are additional data available upon request: e.g. pedigree (yes/no/?)

Treatment: treatment of patient

Variants in genes: The individual has variants for this gene.

Panel size: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.

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4 entries on 1 page. Showing entries 1 - 4.

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How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00152028	-	-	-	-	-	-	-	-	-	-	-	NBIA5	-	WDR45	WDR45	1	1	Gemeinschaftspraxis für Humangenetik Dresden
00376971	-	-	-	-	-	-	-	-	-	-	-	NBIA5	-	WDR45	WDR45	1	1	Gemeinschaftspraxis für Humangenetik Dresden
00377154	182657	-	-	F	-	Germany	-	-	-	-	-	NBIA5	Focal epilepsy, generalized developmental delay, blood-liquor-glucose ratio 0, 46	WDR45	WDR45	1	1	Andreas Laner
00391878	138P	-	-	F	no	-	-	-	-	-	-	ID, NBIA5	-	-	WDR45	1	1	Alejandro Brea-Fernández

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Global Variome shared LOVD

CHEK2 (checkpoint kinase 2)