ORPHA:530303

Progressive dementia with neuroserpin inclusion bodies

Synonyms: Late-onset familial encephalopathy with neuroserpin inclusion bodies

Type: Clinical subtype
Group: Subtype of disorder
Inheritance: Autosomal dominant
Age of onset: Adult, Elderly
Status: active

Orphadata ships no English definition for this code.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Progressive dementia with neuroserpin inclusion bodies	Late-onset familial encephalopathy with neuroserpin inclusion bodies
fr	Démence progressive à corps d'inclusion de neuroserpine	Encéphalopathie familiale à corps d'inclusion de neuroserpine à debut tardif
de	Progressive Demenz mit Neuroserpin-Einschlusskörperchen	Spät beginnende familiäre Enzephalopathie mit Neuroserpin-Einschlusskörperchen
es	Demencia progresiva con cuerpos de inclusión de neuroserpina	Encefalopatía familiar con cuerpos de inclusión de neuroserpina de inicio tardío
it	Demenza progressiva con corpi inclusi di neuroserpina
nl	Progressieve dementie met neuroserpine-inclusielichamen	Laat aanvangende familiale encefalopathie met neuroserpine-inclusielichamen
pt	Demência progressiva com neuroserpina nos corpos de inclusão
pl	Postępująca demencja z ciałkami inkluzyjnymi neuroserpiny	= en
cs	Progresivní demence s neuroserpinovými inkluzivními tělísky	Familiární encefalopatie s pozdním nástupem s neuroserpinovými inkluzními tělísky
uk	Прогресуюча деменція з включеннями тілець нейросерпіну	Пізня сімейна енцефалопатія з нейросерпіновими тілами включення
zh	进行性痴呆伴神经源性丝氨酸蛋白酶抑制剂包涵体	晚发性家族性脑病伴有神经源性丝氨酸蛋白酶抑制剂包涵体
tr	Neuroserpin inklüzyon cisimcikleri ile seyreden ilerleyici demans	Nöroserpin inklüzyon organları ile seyreden geç başlangıçlı ailesel ensefalopati

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	604218	NTBT		validated
ICD-10	G31.8	NTBT	attributed	validated
MONDO	0035161	E		validated
UMLS	C5680143	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:98006Rare neurologic disease

Parents in the classifications (1):

ORPHA:85110Familial encephalopathy with neuroserpin inclusion bodies
rare genetic diseases; rare neurological diseases

No children.

Genes

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
SERPINI1	Disease-causing germline mutation(s) in	Assessed	HGNC:8943	ENSG00000163536	602445	3q26.1	serpin family I member 1	12103288[PMID]

Prevalence and incidence

0 records

No prevalence record in this release.

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

Sources for this card

Orphanet page: orpha.net/en/disease/detail/530303
This record as JSON: /data/d/530303.json