DiseaseID 4320

黏脂贮积症

disease

Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency (see this term) characterized by infantile neuroaxonal dystrophy.

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Disease: 1Formula: 21Symptom: 12Target: 24Links: 57

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Record Fields

Scalar fields from the final disease record.

Disease Id: 4320
Core Entity Id: 60650
Source Entity Count: 1
Preferred Name: Mucolipidoses
Name Cn: 黏脂贮积症
Name Pinyin: Nian Zhi Zhu Ji Zheng
Name En: Mucolipidoses
Name Latin
Bilingual Status: complete
Disease Type: disease
Umls Disease Type: Disease or Syndrome
Disgenet Type: disease
Mesh Class: Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesNervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesNervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
Do Class: genetic disease; disease of metabolism
Hpo Class: Abnormality of metabolism/homeostasis; Abnormal cellular phenotypeAbnormality of metabolism/homeostasis; Abnormality of the genitourinary system
Mesh Class Name: Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
Hpo Class Name: Abnormality of metabolism/homeostasis; Abnormal cellular phenotypeAbnormality of metabolism/homeostasis; Abnormality of the genitourinary system
Do Class Name: disease of metabolism; genetic disease
Disease Definition: Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency (see this term) characterized by infantile neuroaxonal dystrophy.
Version: v1
Suppressed: No

Names

Preferred names, aliases, and source labels retained in the final schema.

Name

Mucolipidoses

Role

preferred

Name

Alpha-N-Acetylgalactosaminidase Deficiency Type 1

Role

preferred

Name

Alpha-N-Acetylgalactosaminidase Deficiency Type 3

Role

preferred

Name

Aspartylglucosamidase (Aga) Deficiency

Role

preferred

Name

Aspartylglucosaminuria

Role

preferred

Name

Fucosidosis

Role

preferred

Name

Galactosialidosis

Role

preferred

Name

Mucolipidosis Ii Alpha/Beta (Disorder)

Role

preferred

Name

Mucolipidosis Iii Alpha Beta, Atypical

Role

preferred

Name

Mucolipidosis Iii Alpha/Beta

Role

preferred

Name

Mucolipidosis Iii Gamma

Role

preferred

Name

Pseudo-Hurler Polydystrophy

Role

preferred

Name

Schindler Disease, Type I

Role

preferred

Name

Alpha-Mannosidosis

Role

preferred

Name

Beta-Mannosidosis

Role

preferred

Name

Fucosidase Deficiency Disease

Role

preferred

Name

Fucosidosis Type I

Role

preferred

Name

Fucosidosis Type II

Role

preferred

Name

Kanzaki Disease

Role

preferred

Name

Lipomucopolysaccharidosis

Role

preferred

Name

Mannosidase Deficiency Diseases

Role

preferred

Name

Mucolipidosis Ii Alpha/Beta

Role

preferred

Name

Mucolipidosis Type IV

Role

preferred

Name

Mucolipidosis Type Ii

Role

preferred

Name

Neuraminidase 1 Deficiency

Role

preferred

Name

Neuraminidase Deficiency

Role

preferred

Name

Schindler Disease, Type II

Role

preferred

Name

Schindler Disease, Type III

Role

preferred

Name

Sialidase Deficiency

Role

preferred

Name

Sialidosis Type 1

Role

preferred

Name

Sialidosis, Type 2

Role

preferred

Name

Type I Mucolipidosis

Role

preferred

Name

Type II Mucolipidosis

Role

preferred

Name

AGA DEFICIENCY

Role

alias

Name

AGU

Role

alias

Name

ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY, TYPE I

Role

alias

Name

ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY, TYPE III

Role

alias

Name

ASPARTYLGLUCOSAMINIDASE DEFICIENCY

Role

alias

Name

ASPARTYLGLYCOSAMINURIA

Role

alias

Name

Alpha-L-fucosidase Deficiency

Role

alias

Name

CATHEPSIN A DEFICIENCY

Role

alias

Name

Cherry Red Spot--Myoclonus Syndrome

Role

alias

Name

Deficiency of N-Acetylglucosamine-1-Phosphotransferase

Role

alias

Name

GLYCOASPARAGINASE

Role

alias

Name

GLYCOSYLASPARAGINASE DEFICIENCY

Role

alias

Name

GSL

Role

alias

Name

Glycoproteinosis

Role

alias

Name

Goldberg Syndrome

Role

alias

Name

High Urine Aspartylglucosamine Levels

Role

alias

Name

I-Cell Disease

Role

alias

Name

Inclusion-Cell Disease

Role

alias

Name

LYSOSOMAL PROTECTIVE PROTEIN DEFICIENCY

Role

alias

Name

ML III

Role

alias

Name

ML III ALPHA/BETA

Role

alias

Name

ML III GAMMA

Role

alias

Name

ML IIIA

Role

alias

Name

ML IIIC

Role

alias

Name

MUCOLIPIDOSIS III

Role

alias

Name

MUCOLIPIDOSIS III ALPHA/BETA, ATYPICAL

Role

alias

Name

MUCOLIPIDOSIS III, COMPLEMENTATION GROUP C

Role

alias

Name

MUCOLIPIDOSIS III, IRANIAN VARIANT FORM

Role

alias

Name

MUCOLIPIDOSIS III, VARIANT FORM

Role

alias

Name

MUCOLIPIDOSIS IIIA

Role

alias

Name

MUCOLIPIDOSIS IIIC

Role

alias

Name

Mannosidosis, Alpha B, Lysosomal

Role

alias

Name

Mannosidosis, Beta A, Lysosomal

Role

alias

Name

Mucolipidosis Ii Alpha Beta

Role

alias

Name

Mucolipidosis Iv

Role

alias

Name

NAGA DEFICIENCY, TYPE I

Role

alias

Name

NAGA DEFICIENCY, TYPE III

Role

alias

Name

NAGA Deficiency Type 1

Role

alias

Name

NAGA Deficiency Type 3

Role

alias

Name

NEURAMINIDASE/BETA-GALACTOSIDASE EXPRESSION

Role

alias

Name

NEUROAXONAL DYSTROPHY, SCHINDLER TYPE

Role

alias

Name

NGBE

Role

alias

Name

Neuraminidase Deficiency With Beta-Galactosidase Deficiency

Role

alias

Name

PPCA DEFICIENCY

Role

alias

Name

PROTECTIVE PROTEIN/CATHEPSIN A DEFICIENCY

Role

alias

Name

Schindler Disease Type 1

Role

alias

Name

Schindler Disease Type 3

Role

alias

Name

Sialidoses, Type 2

Role

alias

Name

Sialidosis, Type Ii

Role

alias

Cross References

Trusted external identifiers retained for this final record.

Hpo

HP:0003264HP:0012068

Herb

HBDIS001116HBDIS001509HBDIS001757HBDIS001853HBDIS001980HBDIS002502HBDIS005147HBDIS006216HBDIS006217HBDIS006218HBDIS006219HBDIS006220HBDIS006221HBDIS012820HBDIS015441HBDIS015447HBDIS015448HBDIS017078HBDIS019248HBDIS019249HBDIS020367HBDIS022802HBDIS025298HBDIS025991

Me Sh

D005645D008363D009081D044904D044905D054880

Omim

208400230000248500248510252500252600252605252650256540256550609241609242

Umls

C0016788C0020725C0023806C0033788C0268225C0268226C0268228C0268233C0342849C1836522C1836544C1836545C1850510C1854896C2673375C2673377C2931840C2931893C2931894C3888317C4282398

Icd10

E77.0E77.1

Med Dra

10068220

Sym Map

SMDE00882SMDE01310SMDE01313SMDE01839SMDE02183SMDE02249SMDE02711SMDE02941SMDE03073SMDE03820SMDE04077SMDE04209SMDE04842SMDE05041SMDE05098SMDE06072SMDE10469SMDE11126SMDE11127SMDE11416SMDE12510SMDE13136SMDE14063SMDE14064

Do Class

DOID:0014667DOID:630

Dis Ge Net

C0016788C0020725C0023806C0024748C0026697C0033788C0238286C0268221C0268222C0268225C0268226C0268228C0268233C1257960C1836522C1836544C1836545C1854896C2673375C2673377C2931840C3888317C4048196C4282398

Orphanet

11834935157679279792807928181293

Umls Sty

T047

Hpo Class

HP:0000119HP:0001939HP:0025354

Me Sh Class

C05C10C16C18

Etcm Disease

AspartylglucosaminuriaGalactosialidosisKanzaki DiseaseMucolipidosis Ii Alpha/betaMucolipidosis Iii Alpha/betaMucolipidosis Iii Gamma

Tcmbank Disease

1112511221186915872161771620017798217452190123269240722482625455258372623526299268452874230667320864325680746484168630

Itcmdb Generated

ITX-DISEASE-0EF94082D468ITX-DISEASE-2176D31160DEITX-DISEASE-40F846F27DD8ITX-DISEASE-47B14BFDAE19ITX-DISEASE-90739216431DITX-DISEASE-96F3612CE2CCITX-DISEASE-A42791D0F5FEITX-DISEASE-AC1D4F31E908ITX-DISEASE-AD748B6698C8ITX-DISEASE-B9C3FFDD6050ITX-DISEASE-FC9973838EFA

Attributes

Merged source attributes and domain-specific metadata.

Version

v1v1,v2v2

Suppress

Page Title

Disease Aspartylglucosaminuria Details pageDisease Galactosialidosis Details pageDisease Kanzaki Disease Details pageDisease Mucolipidosis Ii Alpha/beta Details pageDisease Mucolipidosis Iii Alpha/beta Details pageDisease Mucolipidosis Iii Gamma Details page

Do Class Name

disease of metabolism; genetic disease

Disease Type

diseasegroupphenotype

Hpo Class Name

Abnormality of metabolism/homeostasis; Abnormal cellular phenotypeAbnormality of metabolism/homeostasis; Abnormality of the genitourinary system

Link Disease Id

3913.0

Do Disease Class

genetic disease; disease of metabolism

Hpo Disease Class

Abnormality of metabolism/homeostasis; Abnormal cellular phenotypeAbnormality of metabolism/homeostasis; Abnormality of the genitourinary system

Umls Disease Type

Disease or Syndrome

Basic Information

Disease Name

Aspartylglucosaminuria

Global Category

Genetic diseases;Metabolic diseases;Rare diseases

Anatomical Category

Bone diseases;Neuronal diseases

Disease Name

Galactosialidosis

Global Category

Genetic diseases;Metabolic diseases;Rare diseases

Anatomical Category

Bone diseases;Eye diseases;Neuronal diseases

Disease Name

Kanzaki Disease

Global Category

Genetic diseases;Metabolic diseases;Rare diseases

Anatomical Category

Cardiovascular diseases;Eye diseases;Neuronal diseases

Disease Name

Mucolipidosis Ii Alpha/beta

Global Category

Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases

Anatomical Category

Blood diseases;Bone diseases;Eye diseases;Neuronal diseases;Skin diseases

Disease Name

Mucolipidosis Iii Alpha/beta

Global Category

Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases

Anatomical Category

Blood diseases;Bone diseases;Eye diseases;Neuronal diseases;Skin diseases

Disease Name

Mucolipidosis Iii Gamma

Global Category

Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases

Anatomical Category

Blood diseases;Bone diseases;Eye diseases;Neuronal diseases;Skin diseases

Disease Definition

Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency (see this term) characterized by infantile neuroaxonal dystrophy.Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 3 is a rare clinically heterogeneous type of NAGA deficiency (see this term) with developmental, neurologic and psychiatric manifestations presenAspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis).Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity.Fucosidosis is an extremely rare lysosomal storage disorder characterized by a highly variable phenotype with common manifestations including neurologic deterioration, coarse facial features, growth rGalactosialidosis is a lysosomal storage disease characterized by coarse facial features, macular ''cherry red spot'', and dysostosis multiplex. Clinical presentation can be heterogenous ranging from Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly.Mucolipidosis type IV (ML IV) is a lysosomal storage disease characterised clinically by psychomotor retardation and visual abnormalities including corneal clouding, retinal degeneration, or strabismuNCI2016_02D:An autosomal recessive inherited lysosomal storage disease characterized by excessive intracellular accumulation and urinary excretion of sialic acid associated with neuraminidase deficiency.NCI2016_02D:An inherited lysosomal storage disease characterized by the presence of dense intracytoplasmic inclusions in mesenchymal cells, especially fibroblasts. Signs and symptoms include developmental delay, psychomotor deterioration, and growth failure.|CSP2006:rapidly progressing disease of young children, characterized histologically by abnormal fibroblasts containing a large number of dark inclusions which fill the central part of the cytoplasm except for the juxtanuclear zone (I cells), and clinically by severe growth impairment, minimal hepatomegaly, extreme mental and motor retardation, and clear corneas; inherited as an autosomal recessive trait, it is caused by failure of lysosomal enzymes to be incorporated into lysosomes.Sialidosis type 1 (ST-1) is a very rare lysosomal storage disease, and is the normosomatic form of sialidosis (see this term), characterized by gait abnormalities, progressive visual loss, bilateral m

Me Sh Disease Class

Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesNervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesNervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases

Dis Ge Net Disease Type

diseasegroupphenotype

Disease Class Name Me Sh

Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases

Umls Semantic Type Name

Disease or Syndrome