Details of Disease

General Information of Disease (ID: DISEL5G3)

Disease Name Neuronal ceroid lipofuscinosis 11
Synonyms
CLN11 disease; ceroid lipofuscinosis, neuronal, 11; GRN neuronal ceroid lipofuscinosis; neuronal ceroid lipofuscinosis caused by mutation in Grn; Grn neuronal ceroid lipofuscinosis; ceroid lipofuscinosis, neuronal, type 11; neuronal ceroid lipofuscinosis caused by mutation in GRN; CLN11; neuronal ceroid lipofuscinosis type 11
Definition Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the GRN gene.
Disease Hierarchy
DIS5UHAA: Adult neuronal ceroid lipofuscinosis
DIS9A4K4: Neuronal ceroid lipofuscinosis
DISEL5G3: Neuronal ceroid lipofuscinosis 11
Disease Identifiers
MONDO ID
MONDO_0013866
UMLS CUI
C3539123
OMIM ID
614706
MedGen ID
761331
Orphanet ID
314629

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
GRN TT0LWE3 moderate CausalMutation [1]
GRN TT4LM0E Strong Autosomal recessive [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GRN OTXXSJ53 Strong Autosomal recessive [2]
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References

1 Clinical and genetic analyses of familial and sporadic frontotemporal dementia patients in Southern Italy.Alzheimers Dement. 2017 Aug;13(8):858-869. doi: 10.1016/j.jalz.2017.01.011. Epub 2017 Mar 3.
2 Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.