PedAM

Pediatric Disease Annotations & Medicines


	galactosemia

Disease ID	20
Disease	galactosemia
Definition	A group of inherited enzyme deficiencies which feature elevations of GALACTOSE in the blood. This condition may be associated with deficiencies of GALACTOKINASE; UDPGLUCOSE-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; or UDPGLUCOSE 4-EPIMERASE. The classic form is caused by UDPglucose-Hexose-1-Phosphate Uridylyltransferase deficiency, and presents in infancy with FAILURE TO THRIVE; VOMITING; and INTRACRANIAL HYPERTENSION. Affected individuals also may develop MENTAL RETARDATION; JAUNDICE; hepatosplenomegaly; ovarian failure (PRIMARY OVARIAN INSUFFICIENCY); and cataracts. (From Menkes, Textbook of Child Neurology, 5th ed, pp61-3)
Synonym	disorder galactosemia galactosaemia galactosaemia nos galactosaemia, nos galactose intolerance galactose intolerance, nos galactosemia (disorder) galactosemia (disorder) [ambiguous] galactosemia nos galactosemia nos (disorder) galactosemia, nos galactosemias galactosemias [disease/finding]
Orphanet	ORPHANET:352
OMIM	OMIM:230400
DOID	DOID:9870
ICD10	ICD10CM:E74.21
UMLS	C0016952
MeSH	D005693
SNOMED-CT	SNOMEDCT_US_2016_09_01:190745006
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:5) C0011991 \| diarrhea \| 1 C0013369 \| infectious diarrhea \| 1 C0014553 \| absence seizures \| 1 C0022354 \| cholestatic jaundice \| 1 C0013421 \| dystonia \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:3) GALK1 \| 2584 \| CTD_human;GHR GALT \| 2592 \| CTD_human;GHR GALE \| 2582 \| CTD_human;GHR
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 2592 \| GALT \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:112) 1595 \| CYP51A1 \| DISEASES 5009 \| OTC \| DISEASES 1738 \| DLD \| DISEASES 158 \| ADSL \| DISEASES 10278 \| EFS \| DISEASES 10404 \| CPQ \| DISEASES 1666 \| DECR1 \| DISEASES 3191 \| HNRNPL \| DISEASES 268 \| AMH \| DISEASES 1178 \| CLC \| DISEASES 4967 \| OGDH \| DISEASES 2584 \| GALK1 \| DISEASES 4126 \| MANBA \| DISEASES 7167 \| TPI1 \| DISEASES 2703 \| GJA8 \| DISEASES 2700 \| GJA3 \| DISEASES 3630 \| INS \| DISEASES 3040 \| HBA2 \| DISEASES 9210 \| BMP15 \| DISEASES 445 \| ASS1 \| DISEASES 53 \| ACP2 \| DISEASES 79074 \| C2orf49 \| DISEASES 2184 \| FAH \| DISEASES 8482 \| SEMA7A \| DISEASES 23531 \| MMD \| DISEASES 5582 \| PRKCG \| DISEASES 2817 \| GPC1 \| DISEASES 3938 \| LCT \| DISEASES 3589 \| IL11 \| DISEASES 259 \| AMBP \| DISEASES 11010 \| GLIPR1 \| DISEASES 6821 \| SUOX \| DISEASES 6652 \| SORD \| DISEASES 5373 \| PMM2 \| DISEASES 285362 \| SUMF1 \| DISEASES 5047 \| PAEP \| DISEASES 22934 \| RPIA \| DISEASES 231 \| AKR1B1 \| DISEASES 135228 \| CD109 \| DISEASES 3242 \| HPD \| DISEASES 1409 \| CRYAA \| DISEASES 114757 \| CYGB \| DISEASES 248 \| ALPI \| DISEASES 64320 \| RNF25 \| DISEASES 213 \| ALB \| DISEASES 4131 \| MAP1B \| DISEASES 2661 \| GDF9 \| DISEASES 26585 \| GREM1 \| DISEASES 3479 \| IGF1 \| DISEASES 3094 \| HINT1 \| DISEASES 8436 \| SDPR \| DISEASES 686 \| BTD \| DISEASES 1427 \| CRYGS \| DISEASES 80025 \| PANK2 \| DISEASES 653499 \| LGALS7B \| DISEASES 4351 \| MPI \| DISEASES 7358 \| UGDH \| DISEASES 2193 \| FARSA \| DISEASES 6888 \| TALDO1 \| DISEASES 1730 \| DIAPH2 \| DISEASES 50628 \| GEMIN4 \| DISEASES 3039 \| HBA1 \| DISEASES 6514 \| SLC2A2 \| DISEASES 9015 \| TAF1A \| DISEASES 3988 \| LIPA \| DISEASES 7360 \| UGP2 \| DISEASES 2272 \| FHIT \| DISEASES 2701 \| GJA4 \| DISEASES 5498 \| PPOX \| DISEASES 7328 \| UBE2H \| DISEASES 85569 \| GALP \| DISEASES 60 \| ACTB \| DISEASES 6942 \| TCF20 \| DISEASES 55811 \| ADCY10 \| DISEASES 6675 \| UAP1 \| DISEASES 632 \| BGLAP \| DISEASES 1268 \| CNR1 \| DISEASES 2334 \| AFF2 \| DISEASES 2332 \| FMR1 \| DISEASES 1491 \| CTH \| DISEASES 5236 \| PGM1 \| DISEASES 26301 \| GBGT1 \| DISEASES 5476 \| CTSA \| DISEASES 2582 \| GALE \| DISEASES 249 \| ALPL \| DISEASES 229 \| ALDOB \| DISEASES 28952 \| CCDC22 \| DISEASES 3963 \| LGALS7 \| DISEASES 83889 \| WDR87 \| DISEASES 2592 \| GALT \| DISEASES 190 \| NR0B1 \| DISEASES 54840 \| APTX \| DISEASES 3030 \| HADHA \| DISEASES 3486 \| IGFBP3 \| DISEASES 250 \| ALPP \| DISEASES 8802 \| SUCLG1 \| DISEASES 825 \| CAPN3 \| DISEASES 1415 \| CRYBB2 \| DISEASES 10581 \| IFITM2 \| DISEASES 202018 \| TAPT1 \| DISEASES 3033 \| HADH \| DISEASES 7018 \| TF \| DISEASES 10989 \| IMMT \| DISEASES 522 \| ATP5J \| DISEASES 10165 \| SLC25A13 \| DISEASES 9278 \| ZBTB22 \| DISEASES 1012 \| CDH13 \| DISEASES 85365 \| ALG2 \| DISEASES 51312 \| SLC25A37 \| DISEASES 3347 \| HTN3 \| DISEASES 5053 \| PAH \| DISEASES 2585 \| GALK2 \| DISEASES
Locus	(Waiting for update.)

Disease ID	20
Disease	galactosemia
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:47) HP:0012023 \| Galactosuria HP:0010741 \| Edema of the lower limbs HP:0012024 \| Hypergalactosemia HP:0000952 \| Jaundice HP:0002014 \| Diarrhea HP:0001263 \| Global developmental delay HP:0001508 \| Weight faltering HP:0002240 \| Enlarged liver HP:0001878 \| Hemolytic anemia HP:0001878 \| Haemolytic anaemia HP:0001410 \| Decreased liver function HP:0001251 \| Ataxia HP:0001254 \| Lethargy HP:0001510 \| Growth delay HP:0001249 \| Mental retardation HP:0004918 \| Hyperchloremic metabolic acidosis HP:0001250 \| Seizures HP:0000815 \| Primary hypogonadism HP:0100543 \| Cognitive impairment HP:0000044 \| Hypogonadotrophic hypogonadism HP:0000083 \| Renal insufficiency HP:0001943 \| Hypoglycemia HP:0003355 \| Aminoaciduria HP:0001252 \| Muscular hypotonia HP:0001260 \| Dysarthria HP:0002240 \| Hepatomegaly HP:0001399 \| Hepatic failure HP:0000505 \| Visual impairment HP:0000939 \| Osteoporosis HP:0011098 \| Speech apraxia HP:0100806 \| Sepsis HP:0001394 \| Hepatic cirrhosis HP:0001531 \| Failure to thrive in infancy HP:0002167 \| Neurological speech impairment HP:0001939 \| Abnormality of metabolism/homeostasis HP:0008209 \| Premature ovarian failure HP:0001541 \| Ascites HP:0002017 \| Nausea and vomiting HP:0000518 \| Cataract HP:0001942 \| Metabolic acidosis HP:0008872 \| Feeding difficulties in infancy HP:0000252 \| Microcephaly HP:0001249 \| Intellectual disability HP:0001608 \| Abnormality of the voice HP:0001928 \| Abnormality of coagulation HP:0002013 \| Emesis HP:0001337 \| Tremor
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:8) HP:0001250 \| Seizures \| 1 HP:0002121 \| Petit mal seizures \| 1 HP:0100806 \| Sepsis \| 1 HP:0000952 \| Yellow skin \| 1 HP:0004349 \| Reduced bone mineral density \| 1 HP:0001337 \| Tremor \| 1 HP:0002014 \| Diarrhea \| 1 HP:0001332 \| Dystonia \| 1

Disease ID	20
Disease	galactosemia
Manually Symptom	UMLS \| Name(Total Manually Symptoms:18) C2697388 \| cystathioninuria C2364324 \| increased intracranial pressure C2203646 \| jaundice C1962983 \| cataract C1623038 \| cirrhosis C1415538 \| hypergonadotropic hypogonadism C0747102 \| ovarian failure C0268306 \| unconjugated hyperbilirubinemia C0086543 \| cataracts C0086367 \| resistant ovary syndrome C0085605 \| liver failure C0037822 \| speech disorders C0036690 \| septicemia C0033845 \| pseudotumor cerebri C0019080 \| hemorrhage C0008489 \| chorea C0005750 \| stasis syndrome C0003635 \| dyspraxia
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0022346 \| jaundice \| 1

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

All Snps(Total Genotypes:8)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs111033690	9323558	2592	GALT	umls:C0016952	BeFree	Biochemical characterization of the S135L allele of galactose-1-phosphate uridylyltransferase associated with galactosaemia.	0.153061165	1997	GALT	9	34647858	C	G,T
rs111033690	8551426	2592	GALT	umls:C0016952	BeFree	The S135L mutation in the GALT gene is a prevalent cause of galactosemia among black patients.	0.153061165	1996	GALT	9	34647858	C	G,T
rs111033690	11592823	2592	GALT	umls:C0016952	BeFree	This mutation was common in black patients with galactosemia and homozygotes (S135L/S135L) had no GALT activity or protein in their erythrocytes or lymphoblasts.	0.153061165	2001	GALT	9	34647858	C	G,T
rs111033781	10220154	2592	GALT	umls:C0016952	BeFree	Identification of mutations in the galactose-1-phosphate uridyltransferase (GALT) gene in 16 Turkish patients with galactosemia, including a novel mutation of F294Y. Mutation in brief no. 235. Online.	0.153061165	1999	GALT	9	34649058	T	A
rs2070074	22963887	2592	GALT	umls:C0016952	BeFree	The functionally neutral N314D variation in the GALT gene is associated with Duarte galactosemia and is widespread among various worldwide populations.	0.153061165	2012	GALT	9	34649445	A	G
rs2070074	9238673	2592	GALT	umls:C0016952	BeFree	Six out of thirteen (46%) daughters and two mothers of the remaining seven daughters (29%) were carriers for the N314D mutation of GALT associated with the Duarte variant of galactosaemia as compared to 16 out of 113 general population controls (14%) who possessed at least one N314D allele.	0.153061165	1996	GALT	9	34649445	A	G
rs2070074	9012409	2592	GALT	umls:C0016952	BeFree	We conclude that the codon change N314D in cis with the base-pair transition 1721C-->T produces the LA variant of galactosemia and that this nucleotide change increases GALT activity by increasing GALT protein abundance without increasing transcription or decreasing thermal lability.	0.153061165	1997	GALT	9	34649445	A	G
rs75391579	15689161	2592	GALT	umls:C0016952	BeFree	Homology modeling studies on human galactose-1-phosphate uridylyltransferase and on its galactosemia-related mutant Q188R provide an explanation of molecular effects of the mutation on homo- and heterodimers.	0.153061165	2005	GALT	9	34648170	A	G

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

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

Mapped by lexical matching(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001608	Abnormality of the voice	MP:0005223	abnormal dorsal-ventral polarity of the somites;HP:0001878	Hemolytic anemia

Mapped by homologous gene(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0003153	Cystathioninuria	MP:0005332	abnormal amino acid level;HP:0002167	Neurological speech impairment

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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