Warning: The NCBI web site requires JavaScript to function. more...

Full Report

Format

Full Report
Summary (Text)
Summary (XML)

Send to:

Choose Destination

File
Clipboard
Collections

Intracellular accumulation of autofluorescent lipopigment storage material

MedGen UID:: 871168
•Concept ID:: C4025642
•: Finding

HPO:	HP:0003204

Definition

The intracellular accumulation of autofluorescent storage material. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVIntracellular accumulation of autofluorescent lipopigment storage material

Phenotypic abnormality
- Abnormal cellular phenotype
  - Abnormal cellular physiology
    - Intracellular accumulation of autofluorescent lipopigment storage material

Recent clinical studies

Etiology

Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3, and CLN5.

Mole SE, Mitchison HM, Munroe PB
Hum Mutat 1999;14(3):199-215. doi: 10.1002/(SICI)1098-1004(1999)14:3<199::AID-HUMU3>3.0.CO;2-A. PMID: 10477428

Follow-up study of subunit c of mitochondrial ATP synthase (SCMAS) in Batten disease and in unrelated lysosomal disorders.

Elleder M, Sokolová J, Hrebícek M
Acta Neuropathol 1997 Apr;93(4):379-90. doi: 10.1007/s004010050629. PMID: 9113203

Prognosis

Follow-up study of subunit c of mitochondrial ATP synthase (SCMAS) in Batten disease and in unrelated lysosomal disorders.

Elleder M, Sokolová J, Hrebícek M
Acta Neuropathol 1997 Apr;93(4):379-90. doi: 10.1007/s004010050629. PMID: 9113203

Supplemental Content

Table of contents

Clinical resources

ClinicalTrials.gov

Consumer resources

MedlinePlus

Reviews

Related information

PubMed
Related literature resources in PubMed

Recent activity

Clear Turn Off Turn On

Intracellular accumulation of autofluorescent lipopigment storage material
Intracellular accumulation of autofluorescent lipopigment storage material

MedGen

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...