II. Pathophysiology
- Lysosomal Storage Diseases lack enzymes that interfere with lysosomal Phagocytosis of large cellular molecules
III. Types: Mucopolysaccharidosis
- Hurler's Syndrome
- Scheie's Syndrome
- Hunter's Syndrome
- Sanfilippo's Syndrome (Types A-D)
- Morquio A-B
- Maroteaux-Lamy Syndrome
- Beta-glucuronidase deficiency
IV. Types: Mucolipidosis
- Type 2: CNS, Bone and connective tissue involvement
- Type 3: Joint and connective tissue involvement
V. Types: Glycoprotein disorders
- Fucosidosis
- Mannosidosis
- Sialidosis
- Glycogen Storage Disease
- Aspartylglycosaminuria
VI. Types: Gangliosidosis (Sphingolipidosis)
- Gaucher's Disease
- Niemann-Pick Disease
- Krabbe's Disease (Globoid leukodystrophy)
- Metachromatic leukodystrophy
- Ceramide lactoside lipidosis
- Fabry's Disease
- Tay-Sachs Disease
- Sandhoff's Disease
- Landing's Disease
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Related Studies
| Definition (MSHCZE) | Vrozené onemocnění s porušeným metabolismem lipidů (lipidóza), které se hromadí v různých orgánech (zejm. v nervovém systému) a způsobují jejich závažné poškození. Narušen je metabolismus gangliosidů. Např. Tayova-Sachsova nemoc, (viz GM2-gangliosidóza). (cit. Velký lékařský slovník online, 2013 http://lekarske.slovniky.cz/ ) |
| Definition (CSP) | group of often fatal inherited diseases marked by the accumulation of gangliosides in lysosomes secondary to enzymatic deficiency states; gangliosidoses include Tay-Sachs disease, gangliosidosis GM1, gangliosidoses GM2, and Sandhoff disease; which share the infantile or childhood onset of central nervous system deterioration. |
| Definition (MSH) | A group of autosomal recessive lysosomal storage disorders marked by the accumulation of GANGLIOSIDES. They are caused by impaired enzymes or defective cofactors required for normal ganglioside degradation in the LYSOSOMES. Gangliosidoses are classified by the specific ganglioside accumulated in the defective degradation pathway. |
| Concepts | Disease or Syndrome (T047) |
| MSH | D005733 |
| ICD10 | E75.10 |
| SnomedCT | 50967008 |
| English | Gangliosidoses, Gangliosidosis, GANGLIOSIDE STORAGE DIS, Ganglioside Storage Disease, Ganglioside Storage Diseases, Storage Disease, Ganglioside, Storage Diseases, Ganglioside, Ganglioside Storage Disorder, Ganglioside Storage Disorders, Storage Disorder, Ganglioside, Storage Disorders, Ganglioside, Gangliosidosis NOS, Unspecified gangliosidosis, Gangliosidoses [Disease/Finding], ganglioside storage diseases, gangliosidosis, ganglioside storage disease, gangliosidoses, gangliosidosis (diagnosis), Ganglioside accumulation in nervous tissue lysosomes, Ganglioside storage disease, Gangliosidosis (disorder), Ganglioside storage disease, NOS, Gangliosidosis, NOS, Disease, Gangliosidosis |
| Swedish | Gangliosidoser |
| Czech | gangliosidóza |
| Finnish | Gangliosidoosit |
| Russian | GANGLIOZIDOZY, ГАНГЛИОЗИДОЗЫ |
| Japanese | ガングリオシドーシス, ガングリオシド蓄積症 |
| Italian | Disordini da accumulo di gangliosidi, Malattie da accumulo di gangliosidi, Gangliosidosi |
| Polish | Gangliozydozy |
| Norwegian | Gangliosidavleiringssykdom, Gangliosidoser |
| Spanish | acumulación de gangliósidos en lisosomas del tejido nervioso, enfermedad por almacenamiento de gangliósidos, gangliosidosis (trastorno), gangliosidosis, Gangliosidosis |
| French | Gangliosidoses |
| German | Gangliosidosen |
| Dutch | Ganglioside |
| Portuguese | Gangliosidoses |
Ontology: Mucolipidoses (C0026697)
| Definition (MSH) | A group of inherited metabolic diseases characterized by the accumulation of excessive amounts of acid mucopolysaccharides, sphingolipids, and/or glycolipids in visceral and mesenchymal cells. Abnormal amounts of sphingolipids or glycolipids are present in neural tissue. INTELLECTUAL DISABILITY and skeletal changes, most notably dysostosis multiplex, occur frequently. (From Joynt, Clinical Neurology, 1992, Ch56, pp36-7) |
| Definition (NCI) | A group of inherited lysosomal storage diseases characterized by accumulation of lipids and carbohydrates in the tissues, resulting in mental disabilities and skeletal malformations. |
| Concepts | Disease or Syndrome (T047) |
| MSH | D009081 |
| SnomedCT | 70528007 |
| English | Mucolipidoses, Mucolipidosis, mucolipidosis (diagnosis), mucolipidosis, Mucolipidoses [Disease/Finding], mucolipidoses, Mucolipidosis (disorder), Mucolipidosis, NOS |
| Swedish | Mukolipidoser |
| Czech | mukolipidózy, Mukolipidóza |
| Finnish | Mukolipidoosit |
| Russian | I-KLETOK BOLEZN', MUKOLIPIDOZ, MUKOLIPIDOZY, I-КЛЕТОК БОЛЕЗНЬ, МУКОЛИПИДОЗ, МУКОЛИПИДОЗЫ |
| Japanese | シアリドーシス, I細胞病, Iセル病, ガングリオシドシアリダーゼ欠損症, I-Cell病, サクランボ赤色斑ミオクローヌス症候群, ノイラミニダーゼ欠損症, ムコ脂質症, リポムコ多糖代謝異常症, ムコリピド症, リポムコ多糖沈着症, リポムコ多糖症, 偽ハーラー多発性ジストロフィ, ノイラミニダーゼ欠損病, Hurler病様ポリジストロフィー, ムコリピドーシス, ﾑｺﾘﾋﾟﾄﾞｰｼｽ |
| Polish | Choroba pseudo-Hurlera, Mukolipidozy |
| Norwegian | Mukolipidoser |
| Dutch | mucolipidose, Lipidose, muco-, Mucolipidose, Mucolipidosis |
| French | Mucolipidose, Mucolipidoses |
| Hungarian | Mucolipidosis |
| Spanish | mucolipidosis (trastorno), mucolipidosis, Mucolipidosis |
| German | Mukolipidose, Mukolipidosen |
| Italian | Mucolipidosi |
| Portuguese | Mucolipidose, Mucolipidoses |
Ontology: Mucopolysaccharidoses (C0026703)
| Definition (NCI) | A group of autosomal recessive or X-linked inherited lysosomal storage disorders affecting the metabolism of mucopolysaccharides, resulting in the accumulation of mucopolysaccharides in the body. Signs and symptoms include organomegaly, mental retardation, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies. |
| Definition (MSH) | Group of lysosomal storage diseases each caused by an inherited deficiency of an enzyme involved in the degradation of glycosaminoglycans (mucopolysaccharides). The diseases are progressive and often display a wide spectrum of clinical severity within one enzyme deficiency. |
| Definition (CSP) | any of a group of lysosomal storage diseases resulting from defects in degradation of glycosaminoglycans, which are excreted in urine and accumulate in tissue. |
| Concepts | Disease or Syndrome (T047) |
| MSH | D009083 |
| ICD9 | 277.5 |
| ICD10 | E76.3 |
| SnomedCT | 190942001, 267452003, 190936000, 11380006 |
| English | Mucopolysaccharidoses, Mucopolysaccharidosis, Mucopolysaccharidosis NOS, Mucopolysaccharidosis, unspecified, mucopolysaccharidosis, mucopolysaccharidosis (diagnosis), Mucopolysaccharidoses [Disease/Finding], mucopolysaccharidoses, Mucopolysaccharidosis NOS (disorder), MPS - Mucopolysaccharidosis, Mucopolysaccharidosis (disorder), Mucopolysaccharidosis, NOS, Mucopolysaccharidosis [Ambiguous] |
| Dutch | mucopolysacharidose NAO, Mucopolysaccharidose, niet gespecificeerd, mucopolysacharidose, Mucopolysaccharidose, Stapelingsziekte |
| French | Mucopolysaccharidose SAI, Mucopolysaccharidose, Mucopolysaccharidoses |
| German | Mukopolysaccharidose NNB, Mukopolysaccharidose, nicht naeher bezeichnet, Mukopolysaccharidose, Mukopolysaccharidosen |
| Italian | Mucopolisaccaridosi NAS, Mucopolisaccaridosi |
| Portuguese | Mucopolissacaridose NE, Mucopolisacaridose, Mucopolissacaridoses |
| Spanish | Mucopolisacaridosis NEOM, mucopolisacaridosis, SAI, mucopolisacaridosis, SAI (trastorno), mucopolisacaridosis (trastorno), mucopolisacaridosis, Mucopolisacaridosis |
| Japanese | ムコ多糖症ＮＯＳ, ﾑｺﾀﾄｳｼｮｳNOS, ﾑｺﾀﾄｳｼｮｳ, グリコサミノグリカン蓄積症, ムコ多糖症, ムコポリサッカリドーシス, ムコ多糖体沈着, ムコ多糖体沈着症, ムコ多糖体症, ムコ多糖沈着, ムコ多糖沈着症, 酸性ムコ多糖体症 |
| Swedish | Mukopolysackaridoser |
| Czech | mukopolysacharidózy, Mukopolysacharidóza NOS, Mukopolysacharidóza |
| Finnish | Mukopolysakkaridoosit |
| Russian | MUKOPOLISAKHARIDOZY, МУКОПОЛИСАХАРИДОЗЫ |
| Korean | 상세불명의 점액다당질증 |
| Polish | Mukopolisacharydozy |
| Hungarian | Mucopolysaccharidosis k.m.n., Mucopolysaccharidosis |
| Croatian | MUKOPOLISAHARIDOZA |
| Norwegian | Mukopolysakkaridoser, Glykosaminoglykanlagringssykdommer |
Ontology: Sphingolipidoses (C0037899)
| Definition (CSP) | lysosomal storage diseases characterized by abnormal storage of spingolipids. |
| Definition (MSH) | A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign. |
| Concepts | Disease or Syndrome (T047) |
| MSH | D013106 |
| ICD10 | E75.3 |
| SnomedCT | 238028008, 58459009 |
| English | Sphingolipidosis, Sphingolipidosis, unspecified, SPHINGOLIPID STORAGE DIS, sphingolipidosis (diagnosis), sphingolipidosis, Sphingolipid Storage Disease, Sphingolipid Storage Diseases, Storage Disease, Sphingolipid, Storage Diseases, Sphingolipid, Sphingolipidoses [Disease/Finding], sphingolipidoses, Sphingolipidoses, Sphingolipidosis (disorder), Sphingolipidosis, NOS |
| German | Sphingolipidspeicherkrankheiten, Sphingolipid-Speicherkrankheiten, Sphingolipidose, Sphingolipidose, nicht naeher bezeichnet, Sphingolipidosen |
| Swedish | Sfingolipidoser |
| Czech | sfingolipidózy |
| Finnish | Sfingolipidoosit |
| Italian | Malattie da accumulo di sfingolipidi, Sfingolipidosi |
| Russian | SFINGOLIPIDOZY, СФИНГОЛИПИДОЗЫ |
| Japanese | スフィンゴリピド症, スフィンゴ脂質症, スフィンゴリピドーシス |
| Korean | 상세불명의 스핑고지질증 |
| Polish | Sfingolipidozy |
| Norwegian | Sfingolipidavleiringssykdommer, Sfingolipidose, Sfingolipidoser |
| Dutch | Sfingolipidose, niet gespecificeerd, Lipidose, sfingo-, Sfingolipidose, Sfingolipidosen |
| Spanish | esfingolipidosis, esfingolipoidosis (trastorno), esfingolipoidosis, Esfingolipidosis |
| French | Sphingolipidoses, Maladies de surcharge en sphingolipides |
| Portuguese | Esfingolipidoses |
Ontology: Lysosomal Storage Diseases (C0085078)
| Definition (NCI) | A group of autosomal recessive or X-linked inherited metabolic disorders caused by defects in the function of the lysosomes. Signs and symptoms include hepatomegaly, splenomegaly, nervous system manifestations, skeletal abnormalities, and mental deterioration. Representative examples include Gaucher disease, Niemann-Pick disease, Wolman disease, and Fabry disease. |
| Definition (MSH) | Inborn errors of metabolism characterized by defects in specific lysosomal hydrolases and resulting in intracellular accumulation of unmetabolized substrates. |
| Definition (CSP) | inborn errors of metabolism characterized by defects in specific lysosomal hydrolases and resulting in intracellular accumulation of unmetabolized substrates. |
| Concepts | Disease or Syndrome (T047) |
| MSH | D016464 |
| SnomedCT | 280081000009104, 23585005 |
| LNC | LP111174-1, MTHU036683 |
| English | Disease, Lysosomal Storage, Diseases, Lysosomal Storage, Disorder, Lysosomal Enzyme, Disorders, Lysosomal Enzyme, Enzyme Disorder, Lysosomal, Enzyme Disorders, Lysosomal, Lysosomal Enzyme Disorder, Lysosomal Enzyme Disorders, Lysosomal Storage Diseases, inborn lysosomal enzyme disorder, LYSOSOMAL STORAGE DIS, LYSOSOMAL ENZYME DIS, Lysosomal Storage Disease, Lysosomal Storage Diseases [Disease/Finding], lysosomal storage disorders, lysosomal storage diseases, lysosomal storage disease, lysosomal storage disorder, Lysosomal storage disorders, Lysosomal storage disease (disorder), Lysosomal storage disease, Lysosomal storage diseases, Disorder of Lysosomal Enzymes, Lysosomal Storage Disorder, Disorder of lysosomal enzyme (disorder), Disorder of lysosomal enzyme, defect; lysosomal enzyme, lysosomal enzyme; defect, Disorder of lysosomal enzyme, NOS |
| Italian | Patologie da accumulo lisosomiale, Difetti dell'enzima lisosomiale, Malattie da accumulo lisosomiale |
| Swedish | Lysosomala upplagringssjukdomar |
| Japanese | ﾘｿｿｰﾑﾁｸｾｷｼｮｳ, リソソーム蓄積症, 先天性リソソーム病, ハリソン病, ライソゾーム性蓄積症, リソソーム性蓄積症, リソソーム病, リソソーム酵素障害, 網内系脂肪蓄積症, ライソソーム病, ライソソーム蓄積病, ライソソーム酵素障害, ライソゾーム病, ライソゾーム蓄積病, ライソゾーム酵素障害, リソソーム蓄積病 |
| Czech | lyzozomální nemoci z ukládání, Poruchy střádání v lysozomech |
| Finnish | Lysosomaaliset kertymäsairaudet |
| Russian | LIZOSOMAL'NYKH ENZIMOV OBMENA NARUSHENIIA, LIZOSOMAL'NOGO NAKOPLENIIA BOLEZNI, ЛИЗОСОМАЛЬНОГО НАКОПЛЕНИЯ БОЛЕЗНИ, ЛИЗОСОМАЛЬНЫХ ЭНЗИМОВ ОБМЕНА НАРУШЕНИЯ |
| Spanish | trastorno de enzimas lisosomales, trastorno de enzimas lisosómicas, trastorno de enzimas lisosómicas (trastorno), trastorno de enzimas lisosomales (trastorno), Alteraciones lisosómicas de almacenamiento, Enfermedades por Almacenamiento Lisosomal, Trastornos de la Enzima Lisosomal |
| Polish | Choroby spichrzeniowe lizosomalne, Zaburzenia enzymów lizosomalnych |
| Hungarian | Lysosomalis tárolási betegségek |
| Croatian | Not Translated[Lysosomal Storage Diseases] |
| Norwegian | Lysosomlagringssykdommer, Lysosomale avleiringssykdommer |
| French | Troubles lysosomiques, Maladies lysosomiales, Maladies lysosomales |
| Dutch | defect; lysosomaal enzym, lysosomaal enzym; defect, lysosomale stapelingsstoornissen, Lysosomale enzymafwijkingen, Lysosomale stapelingsziekte, Lysosomale stapelingsziekten, Lysosomale ziekte, Stapelingsziekte, lysosomale, Ziekte, lysosomale stapelings- |
| Portuguese | Alterações do armazenamento lisossómico, Doenças por Armazenamento dos Lisossomos, Transtornos da Enzima Lisossômica |
| German | Stoerungen der Lysosomenspeicherung, Lysosomale Speicherkrankheiten, Lysosomale Enzymstörungen |
Ontology: Glycoprotein storage disorder (C0268220)
| Concepts | Disease or Syndrome (T047) |
| SnomedCT | 7810004 |
| English | Glycoprotein storage disorder (disorder), Glycoprotein storage disorder, Glycoprotein storage disorder, NOS |
| Spanish | trastorno por almacenamiento de glicoproteínas, trastorno por almacenamiento de glucoproteínas (trastorno), trastorno por almacenamiento de glucoproteínas |
