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Gene: Hgd MGI:96078

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Gene Summary

Name:
homogentisate 1, 2-dioxygenase
Synonyms:
N/A

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Forepaw

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X-ray

XRay Images Skull Lateral Orientation

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XRay Images Whole Body Lateral Orientation

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XRay Images Skull Dorso Ventral Orientation

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XRay Images Whole Body Dorso Ventral

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Human diseases caused by Hgd mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Hgd by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Alkaptonuria
Decreased glomerular filtration rate, Dark urine, Elevated urinary homogentisic acid, Nephrolithi... OMIM:203500
Alkaptonuria
Aminoaciduria, Dark urine, Elevated urinary homogentisic acid, Nephrolithiasis ORPHA:56

The table below shows human diseases predicted to be associated to Hgd by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pentosuria
Abnormality of urine homeostasis OMIM:260800
Uridine-Cytidineuria
Elevated urinary uridine level, Elevated urinary cytidine OMIM:618477
Sedoheptulokinase Deficiency
Increased urinary sedoheptulose OMIM:617213
Iminoglycinuria
Hyperglycinuria, Prolinuria, Hydroxyprolinuria OMIM:242600
Iminoglycinuria
Hyperglycinuria, Prolinuria, Hydroxyprolinuria ORPHA:42062
Dibasic Amino Aciduria I
Ornithinuria, Hyperlysinuria, Dibasicaminoaciduria, Argininuria OMIM:222690
Hemolytic Anemia, Congenital, X-Linked
Dark urine OMIM:301015
Indolylacroyl Glycinuria With Impaired Intellectual Development
Hyperglycinuria OMIM:243050
Phosphohydroxylysinuria
Phosphohydroxylysinuria OMIM:615011
Beta-Aminoisobutyric Aciduria
Beta-aminoisobutyric aciduria OMIM:210100
Cystathioninuria
Cystathioninuria OMIM:219500
Cerebral Creatine Deficiency Syndrome 3
Organic aciduria OMIM:612718
Hyperprolinemia, Type Ii
Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Elevated urinary pyrroline hydroxycarboxylic acid... OMIM:239510
Camptodactyly 1
Knee dislocation, Joint subluxation, Increased urinary taurine, Camptodactyly of finger OMIM:114200
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Aminoaciduria ORPHA:79156
Carnosinemia
Carnosinuria OMIM:212200
Lysine Malabsorption Syndrome
Renal tubular lysine transport defect, Hyperlysinuria OMIM:247950
Cystinuria
Hyperlysinuria, Recurrent urinary tract infections, Renal insufficiency, Nephrolithiasis, Cystinu... OMIM:220100
Hydroxylysinuria
Hyperlysinuria OMIM:236900
Hyperglycinuria
Calcium oxalate nephrolithiasis, Hyperglycinuria OMIM:138500
Hyperbiliverdinemia
Green urine OMIM:614156
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Prolinuria ORPHA:419
Saccharopinuria
Saccharopinuria, Histidinuria, Hyperlysinuria, Elevated urinary saccharopine level, Citrullinuria OMIM:268700
Methylmalonic Aciduria, Transient, Due To Transcobalamin Receptor Defect
Methylmalonic aciduria OMIM:613646
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria
2-hydroxyadipic aciduria, Alpha-aminoadipic aciduria OMIM:204750
Ichthyosis, Split Hairs, And Amino Aciduria
Aminoaciduria OMIM:242550
Camptodactyly-Taurinuria Syndrome
Aminoaciduria, Increased urinary taurine ORPHA:1325
Dicarboxylic Aminoaciduria
Aminoaciduria, Aspartic aciduria, Nephrolithiasis OMIM:222730
Glucoglycinuria
Hyperglycinuria, Glycosuria OMIM:138070
Carnosinase Deficiency
Carnosinuria ORPHA:1361
Hydroxykynureninuria
Elevated urinary 3-hydroxykynurenine level, Elevated urinary xanthurenic acid level OMIM:236800
Harderoporphyria
Increased urine harderoporphyrin level, Increased urinary porphobilinogen, Red urine OMIM:618892
Glycogen Storage Disease V
Myoglobinuria, Dark urine OMIM:232600
Paroxysmal Cold Hemoglobinuria
Hemoglobinuria, Abnormal urinary color ORPHA:90035
Becker Muscular Dystrophy
Myoglobinuria, Abnormal urinary color ORPHA:98895
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Red-brown urine, Stage 5 chronic kidney disease, Renal insufficiency, Myoglobinuria, Renal tubula... ORPHA:228302
Genetic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, St... ORPHA:656
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... OMIM:308990
Hereditary Coproporphyria
Nephropathy, Dark urine, Increased urinary porphobilinogen, Porphyrinuria, Elevated urinary delta... ORPHA:79273
Dubin-Johnson Syndrome
Abnormal urinary color ORPHA:234
Drug-Induced Autoimmune Hemolytic Anemia
Abnormal urinary color ORPHA:90037
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria, Dark urine, Recurren... ORPHA:368
Nephrotic Syndrome, Type 16
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria OMIM:617783
Blue Diaper Syndrome
Nephrocalcinosis, Blue urine ORPHA:94086
Cold Agglutinin Disease
Abnormal urinary color ORPHA:56425
Homocarnosinosis
Carnosinuria OMIM:236130
Hartnup Disease
Neutral hyperaminoaciduria, Abnormal urinary color ORPHA:2116
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Stage... ORPHA:567548
Mixed-Type Autoimmune Hemolytic Anemia
Abnormal urinary color ORPHA:90036
D-Lactic Aciduria With Gout
Elevated urine D-lactate level, Lacticaciduria OMIM:245450
Proteinuria, Chronic Benign
Proteinuria, Albuminuria, Renal insufficiency OMIM:618884
Glutamate Formiminotransferase Deficiency
Aminoaciduria, Elevated urinary formiminoglutamic acid level OMIM:229100
Monocarboxylate Transporter 1 Deficiency
Ketonuria OMIM:616095
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis
Hypocitraturia, Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis OMIM:620374
Genetic Recurrent Myoglobinuria
Acute kidney injury, Oliguria, Exercise-induced myoglobinuria, Dark urine, Renal insufficiency, R... ORPHA:99845
Autoimmune Hemolytic Anemia, Warm Type
Abnormal urinary color ORPHA:90033
5-Oxoprolinase Deficiency
Calcium oxalate nephrolithiasis, Increased level of L-pyroglutamic acid in urine, Prolinuria OMIM:260005
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Elevated urinary 3-hydroxybutyric acid, Ketonuria OMIM:245050
Pyruvate Dehydrogenase Phosphatase Deficiency
Lacticaciduria ORPHA:79246
Hyperoxaluria, Primary, Type Iii
Calcium oxalate nephrolithiasis, Hyperoxaluria OMIM:613616
Porphyria Due To Ala Dehydratase Deficiency
Increased urinary porphobilinogen, Purple urine ORPHA:100924
Hypercalciuria, Absorptive, 2
Calcium oxalate nephrolithiasis, Hypercalciuria OMIM:143870
Pediatric Systemic Lupus Erythematosus
Nephritis, Abnormality of the urinary system, Dark urine, Renal insufficiency, Hematuria, Protein... ORPHA:93552
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Aminoaciduria OMIM:204730
Medullary Sponge Kidney
Hematuria, Distal renal tubular acidosis, Hypercalciuria, Nephrolithiasis ORPHA:1309
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Myoglobinuria, Red-brown urine ORPHA:228305
Primary Hyperoxaluria Type 3
Nephrocalcinosis, Abnormal renal physiology, Hyperoxaluria, Hematuria, Abnormality of urine homeo... ORPHA:93600
Fanconi Renotubular Syndrome 1
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur... OMIM:134600
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Organic aciduria OMIM:255100
Mercaptolactate-Cysteine Disulfiduria
Aminoaciduria OMIM:249650
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Aminoaciduria ORPHA:2278
Acute Intermittent Porphyria
Urinary retention, Dark urine, Increased urinary porphobilinogen, Renal insufficiency, Porphyrinu... ORPHA:79276
Hyperoxaluria, Primary, Type Ii
Nephrocalcinosis, Hyperoxaluria, Renal insufficiency, Hematuria, Calcium oxalate nephrolithiasis OMIM:260000
Nephrolithiasis, Calcium Oxalate, 1
Calcium oxalate nephrolithiasis, Acute kidney injury, Hyperoxaluria, Ureteropelvic junction obstr... OMIM:167030
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Stage 5 chronic kidney disease, Myoglobinuria, Renal tubular epithelial necrosis... ORPHA:157
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Dicarboxylic aciduria, Renal insufficiency, Myoglobinuria, Renal tubular epithel... ORPHA:228308
Primary Hyperoxaluria Type 2
Nephrocalcinosis, Recurrent urinary tract infections, Ureteral obstruction, Hyperoxaluria, Renal ... ORPHA:93599
Congenital Bile Acid Synthesis Defect Type 2
Renal cyst, Dark urine ORPHA:79303
Propionic Acidemia
Organic aciduria ORPHA:35
3-Methylcrotonyl-Coa Carboxylase Deficiency
Organic aciduria ORPHA:6
Alkaptonuria
Decreased glomerular filtration rate, Dark urine, Elevated urinary homogentisic acid, Nephrolithi... OMIM:203500
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Organic aciduria OMIM:617184
Tyrosinemia, Type Iii
4-Hydroxyphenylpyruvic aciduria, 4-hydroxyphenylacetic aciduria OMIM:276710
Histidinemia
Histidinuria, Elevated urinary N-tau-ribosylhistidine level OMIM:235800
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphaturia OMIM:615605
Stimmler Syndrome
Aminoaciduria ORPHA:3199
Dent Disease 2
Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weig... OMIM:300555
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Lacticaciduria OMIM:619063
Gracile Syndrome
Aminoaciduria OMIM:603358
Methylmalonyl-Coa Epimerase Deficiency
Ketonuria, Methylmalonic aciduria OMIM:251120
Mitochondrial Complex I Deficiency, Nuclear Type 35
Elevated urinary 4-hydroxybutyric acid, Lacticaciduria OMIM:619003
Carbamoyl-Phosphate Synthetase 1 Deficiency
Aminoaciduria ORPHA:147
Tyrosinemia, Type Ii
4-Hydroxyphenylpyruvic aciduria, Elevated urine N-acetyltyrosine level OMIM:276600
Dystonia-Aphonia Syndrome
Abnormal urinary odor ORPHA:412217
Lipoyltransferase 1 Deficiency
Alaninuria, Hyperglutaminuria, Lacticaciduria OMIM:616299
Mitochondrial Dna Depletion Syndrome 18
Elevated urinary quinolinic acid level, Lacticaciduria OMIM:618811
Lymphangioleiomyomatosis
Abnormal urinary color, Hematuria, Renal angiomyolipoma, Multiple renal cysts, Renal neoplasm ORPHA:538
Glutaric Acidemia Type 3
Glutaric aciduria, Ketonuria ORPHA:35706
Mitochondrial Pyruvate Carrier Deficiency
Organic aciduria OMIM:614741
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Renal insufficiency, Lacticaciduria OMIM:619386
Combined Oxidative Phosphorylation Deficiency 36
Aciduria OMIM:617950
Autism, Susceptibility To, 3
Ketonuria OMIM:608049
Diabetes Mellitus, Permanent Neonatal, 3
Ketonuria, Glycosuria OMIM:618857
Methionine Malabsorption Syndrome
Aminoaciduria OMIM:250900
Fanconi Renotubular Syndrome 2
Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Decreased g... OMIM:613388
Mirizzi Syndrome
Dark urine ORPHA:521219
Ornithine Transcarbamylase Deficiency
Aminoaciduria ORPHA:664
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Aminoaciduria, Renal hypoplasia, 3-Methylglutaconic aciduria, Lacticaciduria OMIM:604273
Glutamate-Cysteine Ligase Deficiency
Aminoaciduria ORPHA:33574
Hawkinsinuria
Hawkinsinuria, 4-Hydroxyphenylpyruvic aciduria, 4-hydroxyphenylacetic aciduria OMIM:140350
Hepatoerythropoietic Porphyria
Red-brown urine, Purple urine, Red urine ORPHA:95159
Porphyria, Congenital Erythropoietic
Pink urine, Red urine OMIM:263700
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, Tubulointerstitial fibrosis OMIM:618913
Isolated Biliary Atresia
Dark yellow urine ORPHA:30391
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Elevated urine acetoacetic acid level, Elevated urine suberic acid level, Elevated urinary 3-hydr... OMIM:615751
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Chronic kidney disease, Generalized aminoaciduria, Glycosuria, Low-molec... ORPHA:3337
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Alkaptonuria
Aminoaciduria, Dark urine, Elevated urinary homogentisic acid, Nephrolithiasis ORPHA:56
Dent Disease 1
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo... OMIM:300009
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketonuria, Glycosuria ORPHA:2089
Congenital Erythropoietic Porphyria
Porphyrinuria, Red-brown urine, Increased urinary porphobilinogen, Purple urine ORPHA:79277
Mitochondrial Complex I Deficiency, Nuclear Type 26
Lacticaciduria OMIM:618247
Dent Disease
Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerulosclerosis, Aminoaciduri... ORPHA:1652
Brown-Vialetto-Van Laere Syndrome 2
Organic aciduria OMIM:614707
Histidinemia
Histidinuria ORPHA:2157
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
3-hydroxyisovaleric aciduria, Ketonuria, Elevated urinary 3-methylcrotonylglycine level OMIM:210200
Argininosuccinic Aciduria
Aminoaciduria, Oroticaciduria ORPHA:23
Multiple Mitochondrial Dysfunctions Syndrome 1
Increased urine alpha-ketoglutarate concentration, Hyperglycinuria, Alpha-aminoadipic aciduria, L... OMIM:605711
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
3-Methylglutaric aciduria, Glutaric aciduria, Ketonuria, Elevated urinary 3-methylcrotonylglycine... OMIM:246450
Hereditary Orotic Aciduria
Aminoaciduria, Abnormality of the ureter, Oroticaciduria, Orotic acid crystalluria ORPHA:30
Richards-Rundle Syndrome
Ketonuria ORPHA:1399
Primary Hyperoxaluria
Chronic kidney disease, Aciduria, Nephrocalcinosis, Elevated urine glycolate, Stage 5 chronic kid... ORPHA:416
Liver Failure, Infantile, Transient
Lacticaciduria, 3-hydroxydicarboxylic aciduria, Dicarboxylic aciduria OMIM:613070
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Methylmalonic aciduria, Lacticaciduria OMIM:245400
Holocarboxylase Synthetase Deficiency
3-hydroxyisovaleric aciduria, Elevated urinary 3-methylcrotonylglycine level, Organic aciduria OMIM:253270
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Increased urine alpha-ketoglutarate concentration, Ketonuria, Dicarboxylic aciduria, 3-hydroxydic... OMIM:619355
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Nephrocalcinosis, Glycosuria, Hyperphosphaturia, Proteinuria OMIM:616026
Distal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Decrease... ORPHA:18
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Dicarboxylic aciduria OMIM:605911
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Renal hypoplasia, Ketonuria OMIM:619053
Orotic Aciduria
Oroticaciduria, Hematuria, Orotic acid crystalluria OMIM:258900
Fanconi-Bickel Syndrome
Generalized aminoaciduria, Ketonuria, Glycosuria, Beta 2-microglobulinuria, Hyperphosphaturia, Re... OMIM:227810
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Renal tubular acidosis, Organic aciduria ORPHA:431361
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Hyperglycinuria, Ketonuria, Organic aciduria OMIM:210210
Holocarboxylase Synthetase Deficiency
Organic aciduria ORPHA:79242
Carnitine Palmitoyltransferase I Deficiency
Ketonuria, Renal tubular acidosis, Dicarboxylic aciduria OMIM:255120
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Ketonuria, Lacticaciduria OMIM:619167
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Organic aciduria OMIM:620191
Multiple Acyl-Coa Dehydrogenase Deficiency
3-Methylglutaric aciduria, Glutaric aciduria, Lacticaciduria, Polycystic kidney dysplasia, Ethylm... ORPHA:26791
Mitochondrial Complex I Deficiency, Nuclear Type 29
Stage 5 chronic kidney disease, Lacticaciduria OMIM:618250
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Aminoaciduria, Ketonuria OMIM:614520
Biliary, Renal, Neurologic, And Skeletal Syndrome
Dilatation of the renal pelvis, Hyperechogenic kidneys, Medullary nephrocalcinosis, Dark urine, R... OMIM:619534
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Elevated urine acetoacetic acid level, Alpha-aminoadipic aciduria, 3-Methylglutaconic aciduria OMIM:620089
Methylmalonic Aciduria, Cbla Type
Elevated urine 3-hydroxypropionic acid level, Ketonuria, Methylmalonic aciduria, Elevated urine 2... OMIM:251100
Combined Oxidative Phosphorylation Deficiency 19
Lacticaciduria OMIM:615595
Combined Oxidative Phosphorylation Deficiency 55
Proximal tubulopathy, Organic aciduria, Stage 3 chronic kidney disease, Medullary nephrocalcinosi... OMIM:619743
Leigh Syndrome
Generalized aminoaciduria, Methylmalonic aciduria, Renal tubular acidosis, Renal tubular dysfunct... ORPHA:506
Proximal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Glycosuria, Hypernatriuria, Low-molecular-weight proteinuria, Bi... ORPHA:47159
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Renal steatosis, Ketonuria OMIM:261680
Glutaric Acidemia I
Glutaric aciduria, Ketonuria OMIM:231670
Amish Lethal Microcephaly
Organic aciduria ORPHA:99742
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopathy, Glycosuria,... ORPHA:411634
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Myoglobinuria, Ketonuria, 3-Methylglutaconic aciduria OMIM:251900
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Ketonuria OMIM:615453
Methylmalonic Aciduria, Cblb Type
Ketonuria, Methylmalonic aciduria OMIM:251110
Isolated Permanent Neonatal Diabetes Mellitus
Moderate albuminuria, Ketonuria, Glycosuria, Renal tubular dysfunction, Abnormality of the upper ... ORPHA:99885
Biotinidase Deficiency
Organic aciduria OMIM:253260
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Aciduria, Ethylmalonic aciduria, 3-Methylglutaconic aciduria OMIM:203700
Combined Oxidative Phosphorylation Deficiency 58
Lacticaciduria OMIM:620451
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Organic aciduria OMIM:301310
X-Linked Intellectual Disability, Armfield Type
Aminoaciduria, Galactosuria, Organic aciduria, Limited elbow extension, Abnormality of the elbow ORPHA:85276
Argininemia
Oroticaciduria, Diaminoaciduria OMIM:207800
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Myoglobinuria, Ketonuria OMIM:616878
Developmental And Epileptic Encephalopathy 50
Oroticaciduria, Renal tubular acidosis OMIM:616457
Biotinidase Deficiency
Organic aciduria ORPHA:79241
Beta-Ketothiolase Deficiency
Ketonuria ORPHA:134
3-Hydroxy-3-Methylglutaric Aciduria
3-Methylglutaric aciduria, Ketonuria ORPHA:20
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Ketonuria ORPHA:480864
Pearson Marrow-Pancreas Syndrome
3-Methylglutaric aciduria, Renal Fanconi syndrome, Complex organic aciduria, Hypercalciuria OMIM:557000
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hypospadias, 3-hydroxydicarboxylic aciduria, Lacticaciduria OMIM:252010
Lysinuric Protein Intolerance
Renal fibrosis, Hyperlysinuria, Renal amyloidosis, Oroticaciduria, Decreased glomerular filtratio... ORPHA:470
Mitochondrial Dna-Associated Leigh Syndrome
Abnormal renal tubule morphology, Multiple glomerular cysts, Lacticaciduria ORPHA:255210
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Ketonuria, Methylmalonic aciduria, Renal insufficiency, Glomerulopathy, Hemolytic-uremic syndrome ORPHA:79282
Argininosuccinic Aciduria
Aminoaciduria, Oroticaciduria OMIM:207900
Pearson Syndrome
Glycosuria, Renal insufficiency, Proteinuria, Renal cyst, Lacticaciduria ORPHA:699
Pyruvate Carboxylase Deficiency
Lacticaciduria ORPHA:3008
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Tubulointerstitial nephritis, Aminoaciduria, Lacticaciduria OMIM:124000
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Ketonuria, Increased urinary glycerol ORPHA:247598
Scorpion Envenomation
Acute kidney injury, Ketonuria, Glycosuria ORPHA:466677
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hypospadias, Ketonuria OMIM:220111

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Hgd

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Hgd.

No publications found that use IMPC mice or data for Hgd.

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MGI Allele Allele Type Produced
Hgdem1(IMPC)Bay Exon Deletion Mice
Hgdtm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Hgdtm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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