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	aspartylglucosaminuria

Disease ID	488
Disease	aspartylglucosaminuria
Definition	A rare autosomal recessive lysosomal disorder characterized by deficiency of N-aspartyl-beta-glucosaminidase. It is characterized by developmental delays during childhood.
Synonym	aga deficiencies aga deficiency agu aspartylglucosamidase deficiencies aspartylglucosamidase deficiency aspartylglucosaminidase deficiency aspartylglucosaminuria (disorder) aspartylglucosaminuria [disease/finding] aspartylglucosaminurias aspartylglycosaminuria aspartylglycosaminurias aspartylglycosylaminase deficiency deficiencies, aga deficiencies, aspartylglucosamidase deficiency, aga deficiency, aspartylglucosamidase glycoasparaginases high urine aspartylglucosamine levels
Orphanet	ORPHANET:93
OMIM	OMIM:208400
DOID	DOID:0050461
UMLS	C0268225
MeSH	D054880
SNOMED-CT	SNOMEDCT_US_2016_09_01:54954004
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 175 \| AGA \| CLINVAR;CTD_human;GHR;ORPHANET;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:14) 617 \| BCS1L \| 1.593 \| DISEASES 633 \| BGN \| 1.507 \| DISEASES 682 \| BSG \| 1.017 \| DISEASES 1201 \| CLN3 \| 1.188 \| DISEASES 1203 \| CLN5 \| 2.042 \| DISEASES 5476 \| CTSA \| 4.39 \| DISEASES 3052 \| HCCS \| 1.248 \| DISEASES 3916 \| LAMP1 \| 1.265 \| DISEASES 3963 \| LGALS7 \| 1.603 \| DISEASES 3996 \| LLGL1 \| 1.997 \| DISEASES 4668 \| NAGA \| 3.45 \| DISEASES 5493 \| PPL \| 1.836 \| DISEASES 5538 \| PPT1 \| 1.799 \| DISEASES 10500 \| SEMA6C \| 2.039 \| DISEASES
Locus	Symbol \| Locus(Total Locus:1) AGA \| 4q34.3

Disease ID	488
Disease	aspartylglucosaminuria
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:43) HP:0008430 \| Anterior beaking of lumbar vertebrae HP:0000670 \| Carious teeth HP:0004337 \| Abnormality of amino acid metabolism HP:0003196 \| Short nose HP:0011276 \| Vascular skin abnormality HP:0003103 \| Abnormal cortical bone morphology HP:0100660 \| Dyskinesia HP:0012068 \| Aspartylglucosaminuria HP:0100729 \| Large face HP:0000750 \| Delayed speech and language development HP:0002205 \| Recurrent respiratory infections HP:0000303 \| Mandibular prognathia HP:0001537 \| Umbilical hernia HP:0002167 \| Neurological speech impairment HP:0000316 \| Hypertelorism HP:0000158 \| Macroglossia HP:0000164 \| Abnormality of the teeth HP:0012471 \| Thick vermilion border HP:0002024 \| Malabsorption HP:0000708 \| Behavioral abnormality HP:0001250 \| Seizures HP:0002650 \| Scoliosis HP:0000389 \| Chronic otitis media HP:0003468 \| Abnormality of the vertebrae HP:0001999 \| Abnormal facial shape HP:0002240 \| Hepatomegaly HP:0000431 \| Wide nasal bridge HP:0000023 \| Inguinal hernia HP:0002360 \| Sleep disturbance HP:0001249 \| Intellectual disability HP:0000053 \| Macroorchidism HP:0001744 \| Splenomegaly HP:0001369 \| Arthritis HP:0001387 \| Joint stiffness HP:0002750 \| Delayed skeletal maturation HP:0001763 \| Pes planus HP:0000280 \| Coarse facial features HP:0004568 \| Beaking of vertebral bodies HP:0000212 \| Gingival overgrowth HP:0008551 \| Microtia HP:0002997 \| Abnormality of the ulna HP:0000768 \| Pectus carinatum HP:0002684 \| Thickened calvaria
Text Mined Phenotype	(Waiting for update.)

Disease ID	488
Disease	aspartylglucosaminuria
Manually Symptom	UMLS \| Name(Total Manually Symptoms:3) C0751494 \| motor seizures C0263680 \| chronic arthritis C0014544 \| epileptic seizures
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:29)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121964904	2011603	175	AGA	umls:C0268225	UNIPROT	Aspartylglycosaminuria in the Finnish population: identification of two point mutations in the heavy chain of glycoasparaginase.	0.570314791	1991	AGA	4	177438764	C	G
rs121964905	NA	175	AGA	umls:C0268225	CLINVAR	NA	0.570314791	NA	AGA	4	177433250	C	T
rs121964906	NA	175	AGA	umls:C0268225	CLINVAR	NA	0.570314791	NA	AGA	4	177433238	A	G
rs121964907	NA	175	AGA	umls:C0268225	CLINVAR	NA	0.570314791	NA	AGA	4	177440375	C	T
rs121964908	NA	175	AGA	umls:C0268225	CLINVAR	NA	0.570314791	NA	AGA	4	177439668	G	A
rs121964909	NA	175	AGA	umls:C0268225	CLINVAR	NA	0.570314791	NA	AGA	4	177440340	A	G
rs192195150	2011603	175	AGA	umls:C0268225	UNIPROT	Aspartylglycosaminuria in the Finnish population: identification of two point mutations in the heavy chain of glycoasparaginase.	0.570314791	1991	AGA	4	177438770	C	T
rs386833417	NA	175	AGA	umls:C0268225	CLINVAR	NA	0.570314791	NA	AGA	4	177442268	AAAGGGC	-
rs386833418	NA	175	AGA	umls:C0268225	CLINVAR	NA	0.570314791	NA	AGA	4	177442248	-	CCGCAT
rs386833419	NA	175	AGA	umls:C0268225	CLINVAR	NA	0.570314791	NA	AGA	4	177440362	A	T
rs386833420	NA	175	AGA	umls:C0268225	CLINVAR	NA	0.570314791	NA	AGA	4	177440353	CT	-
rs386833421	NA	175	AGA	umls:C0268225	CLINVAR	NA	0.570314791	NA	AGA	4	177439671	C	T
rs386833422	NA	175	AGA	umls:C0268225	CLINVAR	NA	0.570314791	NA	AGA	4	177439634	A	-
rs386833423	NA	175	AGA	umls:C0268225	CLINVAR	NA	0.570314791	NA	AGA	4	177439624	G	A
rs386833424	NA	175	AGA	umls:C0268225	CLINVAR	NA	0.570314791	NA	AGA	4	177439597	TGTGT	-
rs386833425	NA	175	AGA	umls:C0268225	CLINVAR	NA	0.570314791	NA	AGA	4	177439594	GTGT	-
rs386833426	NA	175	AGA	umls:C0268225	CLINVAR	NA	0.570314791	NA	AGA	4	177438865	T	C
rs386833427	NA	175	AGA	umls:C0268225	CLINVAR	NA	0.570314791	NA	AGA	4	177438848	A	G
rs386833428	NA	175	AGA	umls:C0268225	CLINVAR	NA	0.570314791	NA	AGA	4	177438813	A	G
rs386833429	NA	175	AGA	umls:C0268225	CLINVAR	NA	0.570314791	NA	AGA	4	177442332	A	C
rs386833430	NA	175	AGA	umls:C0268225	CLINVAR	NA	0.570314791	NA	AGA	4	177438749	C	T
rs386833431	NA	175	AGA	umls:C0268225	CLINVAR	NA	0.570314791	NA	AGA	4	177436297	C	T
rs386833432	NA	175	AGA	umls:C0268225	CLINVAR	NA	0.570314791	NA	AGA	4	177434434	C	G
rs386833433	NA	175	AGA	umls:C0268225	CLINVAR	NA	0.570314791	NA	AGA	4	177434433	C	T
rs386833434	NA	175	AGA	umls:C0268225	CLINVAR	NA	0.570314791	NA	AGA	4	177434418	G	A
rs386833435	NA	175	AGA	umls:C0268225	CLINVAR	NA	0.570314791	NA	AGA	4	177434400	A	-
rs386833436	NA	175	AGA	umls:C0268225	CLINVAR	NA	0.570314791	NA	AGA	4	177434387	-	A
rs386833437	NA	175	AGA	umls:C0268225	CLINVAR	NA	0.570314791	NA	AGA	4	177433213	C	A
rs794728009	NA	175	AGA	umls:C0268225	CLINVAR	NA	0.570314791	NA	AGA	4	177434388	A	-

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:18)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000670	Carious teeth	MP:0004033	supernumerary teeth	occurrence of more than the usual number of teeth
HP:0000431	Wide nasal bridge	MP:0006292	abnormal nasal placode morphology	any structural anomaly in the paired ectodermal placodes that come to lie in the bottom of the olfactory pits as the pits are deepened by the growth of the surrounding medial and lateral nasal processes; the nasal placode gives rise to the olfactory epith
HP:0004568	Beaking of vertebral bodies	MP:0013620	increased internal diameter of femur	increased cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur
HP:0001999	Abnormal facial shape	MP:0008018	increased facial tumor incidence	greater than the expected number of neoplasms on the face, usually in the form of a distinct mass, in a specific population in a given time period
HP:0001387	Joint stiffness	MP:0003098	decreased tendon stiffness	reduced ability of tendon to maintain tensile strength and load
HP:0003103	Abnormal cortical bone morphology	MP:0013640	increased bone stiffness	increase in material stiffness (N/mm) during elastic deformation
HP:0000389	Chronic otitis media	MP:0001850	increased susceptibility to otitis media	greater likelihood of middle ear inflammation, with an accumulation of a thick, mucous-like fluid; usually associated with a viral or bacterial respiratory infection
HP:0002997	Abnormality of the ulna	MP:0011205	excessive folding of visceral yolk sac	the appearance of wrinkles or folds on the surface of the visceral yolk sac
HP:0003468	Abnormality of the vertebrae	MP:0009657	failure of chorioallantoic fusion	failure to initiate and/or complete the formation of a highly vascularized extra-embryonic fetal membrane by fusion of the chorion and allantois
HP:0003196	Short nose	MP:0002233	abnormal nose morphology	any structural anomaly of the organ that is specialized for smell and is part of the respiratory system
HP:0000023	Inguinal hernia	MP:0010146	umbilical hernia	an outward bulging (protrusion) of the abdominal lining or part of the abdominal organ(s) through the area around the umbilicus; occurs when the muscle through which blood vessels pass to feed the developing fetus fails to completely close
HP:0000164	Abnormality of the teeth	MP:0010382	abnormal dosage compensation, by inactivation of X chromosome	anomaly in the process of compensating for the two-fold variation in X-chromosome:autosome ratios between sexes by a global inactivation of all, or most of, the genes on one of the X-chromosomes in the XX sex
HP:0000280	Coarse facial features	MP:0008018	increased facial tumor incidence	greater than the expected number of neoplasms on the face, usually in the form of a distinct mass, in a specific population in a given time period
HP:0001537	Umbilical hernia	MP:0010146	umbilical hernia	an outward bulging (protrusion) of the abdominal lining or part of the abdominal organ(s) through the area around the umbilicus; occurs when the muscle through which blood vessels pass to feed the developing fetus fails to completely close
HP:0008430	Anterior beaking of lumbar vertebrae	MP:0008151	increased diameter of long bones	increased width of the cross-sectional distance that extends from one lateral edge of a long bone, through its center and to the opposite lateral edge
HP:0000750	Delayed speech and language development	MP:0012251	abnormal diaphragm development	malformation or incomplete differentiation of the thin musculomembranous barrier separating the abdominal and thoracic cavities and functioning in respiration
HP:0002205	Recurrent respiratory infections	MP:0014182	decreased respiratory epithelial sodium ion transmembrane transport	decrease in the directed movement of sodium ions from one side of the respiratory epithelial cell membrane to the other
HP:0002750	Delayed skeletal maturation	MP:0003379	absent sexual maturation	failure to initiate pubertal changes that result in achievement of full sexual capacity

Mapped by homologous gene(Total Items:41)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0002650	Scoliosis	MP:0020309	increased creatine kinase activity	increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0000164	Abnormality of the teeth	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0001250	Seizures	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0000303	Mandibular prognathia	MP:0020309	increased creatine kinase activity	increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0001369	Arthritis	MP:0020316	decreased vascular endothelial cell proliferation	decrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0002205	Recurrent respiratory infections	MP:0020321	increased vascular endothelial cell apoptosis	increase in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0000708	Behavioral abnormality	MP:0020316	decreased vascular endothelial cell proliferation	decrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0000212	Gingival overgrowth	MP:0014179	abnormal blood-retinal barrier function	anomaly in the function of the part of the blood-ocular barrier that consists of cells that are joined tightly together to prevent certain substances from entering the tissue of the retina; the BRB consists of non-fenestrated capillaries of the retinal ci
HP:0008551	Microtia	MP:0020157	abnormal behavioral response to alcohol	any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior
HP:0003103	Abnormal cortical bone morphology	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0003196	Short nose	MP:0020309	increased creatine kinase activity	increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0002240	Hepatomegaly	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0002360	Sleep disturbance	MP:0020169	increased thyroid gland weight	higher than average weight of the thyroid gland
HP:0002024	Malabsorption	MP:0020220	decreased tear production	decreased production of the amount of fluid produced in the eye
HP:0001744	Splenomegaly	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0000316	Hypertelorism	MP:0020321	increased vascular endothelial cell apoptosis	increase in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0012068	Aspartylglucosaminuria	MP:0011516	aspartylglucosaminuria	high urinary levels of aspartylglucosamine, a derivative of aspartic acid; caused by deficient activity of the enzyme N-aspartyl-beta-glucosaminidase (aspartylglucosaminidase) which normally cleaves long sugar chains known as oligosaccharides in the lysos
HP:0004568	Beaking of vertebral bodies	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0002997	Abnormality of the ulna	MP:0014164	abnormal ciliary process morphology	any structural anomaly of any of the pigmented processes that radiate from the ciliary muscle and give attachments to ligaments supporting the lens of the eye; these processes increase in thickness as they advance from the orbiculus ciliaris to the exter
HP:0000158	Macroglossia	MP:0020169	increased thyroid gland weight	higher than average weight of the thyroid gland
HP:0000670	Carious teeth	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0001999	Abnormal facial shape	MP:0020309	increased creatine kinase activity	increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0000768	Pectus carinatum	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0001249	Intellectual disability	MP:0020316	decreased vascular endothelial cell proliferation	decrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0003468	Abnormality of the vertebrae	MP:0014198	absent pituitary infundibular stalk	absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland
HP:0002167	Neurological speech impairment	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0000280	Coarse facial features	MP:0020169	increased thyroid gland weight	higher than average weight of the thyroid gland
HP:0001537	Umbilical hernia	MP:0020321	increased vascular endothelial cell apoptosis	increase in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0100729	Large face	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0000053	Macroorchidism	MP:0020309	increased creatine kinase activity	increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0001387	Joint stiffness	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0000023	Inguinal hernia	MP:0020321	increased vascular endothelial cell apoptosis	increase in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0000750	Delayed speech and language development	MP:0020309	increased creatine kinase activity	increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0012471	Thick vermilion border	MP:0014168	abnormal brown adipose tissue mass	aberrant physical bulk or volume of brown adipose tissue
HP:0000389	Chronic otitis media	MP:0014185	cerebellum atrophy	acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal
HP:0002750	Delayed skeletal maturation	MP:0020169	increased thyroid gland weight	higher than average weight of the thyroid gland
HP:0001763	Pes planus	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0002684	Thickened calvaria	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0008430	Anterior beaking of lumbar vertebrae	MP:0011473	increased urine glycosaminoglycan level	greater in the amount of glycosaminoglycan in the urine, including chondroitin sulfate, dermatan sulfate, keratan sulfate, heparin sulfate, heparin, and/or hyaluronan and other long unbranched polysaccharides consisting of a repeating disaccharide unit
HP:0000431	Wide nasal bridge	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0100660	Dyskinesia	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue

Disease ID	488
Disease	aspartylglucosaminuria
Case	(Waiting for update.)