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Gene: Hilpda MGI:1916823

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Gene Summary

Name:
hypoxia inducible lipid droplet associated
Synonyms:
2310016C08Rik

Order Alleles

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased heart left ventricle size Hilpdaem1(IMPC)Mhzh HOM   Early adult 5.46×10-05
thin ventricular wall Hilpdaem1(IMPC)Mhzh HOM Early adult 2.00×10-05
decreased cardiac muscle contractility Hilpdaem1(IMPC)Mhzh HOM Early adult 1.26×10-05

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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.

Phenotype associated images not available

Human diseases caused by Hilpda 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.

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Lethargy, Hypothermia OMIM:615026
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitroge... OMIM:620085
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy, Hypothermia OMIM:610006
Huntington Disease
Aggressive behavior, Oral-pharyngeal dysphagia, Inability to walk, Bradykinesia, Abnormal circula... ORPHA:399
Spontaneous Periodic Hypothermia
Ataxia, Hypothermia, Gait disturbance ORPHA:29822
Developmental And Epileptic Encephalopathy 78
Inability to walk, Hypothermia OMIM:618557
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperlipidemia, Polyphagia, Aggressive behavior ORPHA:329249
Idiopathic Congenital Hypothyroidism
Lethargy, Neonatal hyperbilirubinemia, Hypothermia ORPHA:95717
Pick Disease Of Brain
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition OMIM:172700
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Meningococcal Meningitis
Fever, Elevated circulating C-reactive protein concentration, Hypothermia, Anorexia, Lethargy ORPHA:33475
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Hyperactivity, Ataxia, Inappropriate laughter, Polyphagia ORPHA:411515
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Kleine-Levin Syndrome
Fever, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, A... ORPHA:33543
Obesity Due To Sim1 Deficiency
Polyphagia, Attention deficit hyperactivity disorder, Increased resting energy expenditure ORPHA:369873
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Polyphagia ORPHA:71529
Hyperinsulinism Due To Ucp2 Deficiency
Decreased circulating free fatty acid level, Agitation, Lethargy, Polyphagia, Increased C-peptide... ORPHA:276556
Type 1 Diabetes Mellitus
Polydipsia, Polyphagia, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia OMIM:613886
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Decreased circulating free fatty acid level, Agitation, Lethargy, Polyphagia, Increased C-peptide... ORPHA:276575
Primary Erythromelalgia
Hypothermia ORPHA:90026
Obesity
Decreased resting energy expenditure OMIM:601665
Hyperinsulinism Due To Hnf1A Deficiency
Decreased circulating free fatty acid level, Agitation, Lethargy, Polyphagia, Increased C-peptide... ORPHA:324575
Familial Thyroid Dyshormonogenesis
Lethargy, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Hypothermia ORPHA:95716
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Frontotemporal Dementia
Polyphagia, Disinhibition, Inappropriate laughter OMIM:600274
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Hypothermia, Elevated circulating acylcarnitine concentration, Hyperammonemia, Decrease... ORPHA:159
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia, Attention deficit hyperactivity disorder OMIM:301033
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Coenzyme Q10 Deficiency, Primary, 5
Hyperalaninemia, Hypothermia OMIM:614654
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Lethargy, Agitation, Polyphagia, Increased C-peptide level ORPHA:276580
6Q16 Microdeletion Syndrome
Broad-based gait, Polyphagia, Abnormal temper tantrums ORPHA:171829
2Q23.1 Microdeletion Syndrome
Hyperactivity, Ataxia, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Parox... ORPHA:228402
Intellectual Developmental Disorder, Autosomal Dominant 39
Polyphagia, Self-mutilation, Aggressive behavior OMIM:616521
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Body Mass Index Quantitative Trait Locus 20
Polyphagia OMIM:618406
Obesity And Hypopigmentation
Polyphagia OMIM:620195
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia, Hypertriglyceridemia, Polyphagia OMIM:617885
Glycogen Storage Disease Vi
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia OMIM:232700
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Renal Glucosuria
Polydipsia, Polyphagia OMIM:233100
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Steppage gait, Ataxia, Hypoalbuminemia ORPHA:94124
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hyperglycinemia, Hypothermia, Hypertaurinemia OMIM:245400
14Q11.2 Microduplication Syndrome
Polyphagia, Attention deficit hyperactivity disorder, Aggressive behavior ORPHA:261229
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Steppage gait, Ataxia, Hypoalbuminemia OMIM:607250
Bardet-Biedl Syndrome 22
Polyphagia OMIM:617119
Leptin Deficiency Or Dysfunction
Polyphagia OMIM:614962
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Hypothermia, Attention deficit hyperactivity disorder, Lethargy, Abnormal c... ORPHA:90674
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Fever, Abnormality of temperature regulation, Hypothermia, Inability to walk, Unsteady gait OMIM:618493
Leptin Receptor Deficiency
Abnormal eating behavior, Polyphagia, Aggressive behavior OMIM:614963
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypothermia OMIM:616501
Hypotonia-Cystinuria Syndrome
Polyphagia ORPHA:163690
Aromatic L-Amino Acid Decarboxylase Deficiency
Intermittent hypothermia, Tongue thrusting, Choreoathetosis, Athetosis, Lethargy, Temperature ins... OMIM:608643
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Hypothermia, Increased circulating free fatty... ORPHA:26793
3-Hydroxy-3-Methylglutaric Aciduria
Fever, Ataxia, Anorexia, Hypothermia, Hyperammonemia, Hyperuricemia, Lethargy ORPHA:20
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:615703
Genetic Transient Congenital Hypothyroidism
Lethargy, Increased circulating thyroglobulin level, Hypothermia ORPHA:226316
Prader-Willi Syndrome Due To Imprinting Mutation
Polyphagia ORPHA:177910
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Hypothermia OMIM:614498
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Ataxia, Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotei... ORPHA:64753
Schaaf-Yang Syndrome
Inability to walk, Skin-picking, Polyphagia, Impulsivity OMIM:615547
Menkes Disease
Decreased circulating ceruloplasmin concentration, Hypothermia OMIM:309400
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Hypothermia ORPHA:168593
Adult-Onset Autosomal Dominant Leukodystrophy
Ataxia, Hypothermia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Gait disturbance, Dysphagia, Tem... ORPHA:99027
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Ethylene Glycol Poisoning
Cyanosis, Ataxia, Hypothermia, Hyperkalemia, Addictive alcohol use, Hypocalcemia ORPHA:31826
Obesity Due To Prohormone Convertase I Deficiency
Polyphagia ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Polyphagia ORPHA:71526
Hypothyroidism Due To Tsh Receptor Mutations
Lethargy, Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, Hypothermia ORPHA:90673
Timothy Syndrome
Hypocalcemia, Hypothermia OMIM:601005
Hyperinsulinemic Hypoglycemia, Familial, 8
Hyperammonemia, Hypercholesterolemia, Attention deficit hyperactivity disorder, Increased C-pepti... OMIM:620211
Citrullinemia Type Ii
Restlessness, Hyperactivity, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyper... ORPHA:247585
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Hypothermia ORPHA:226313
Graves Disease, Susceptibility To, 1
Hyperactivity, Polyphagia OMIM:275000
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Ataxia, Elevated circulating creatine kinase concentration, Limb ataxia, Gait ataxia, Hypoalbumin... OMIM:208920
Mitochondrial Dna-Associated Leigh Syndrome
Fever, Ataxia, Hypothermia, Low plasma citrulline, Gait ataxia, Dysphagia, Hyperalaninemia ORPHA:255210
Neuroleptic Malignant Syndrome
Hyponatremia, Fever, Elevated circulating creatine kinase concentration, Hypothermia, Hypomagnese... ORPHA:94093
Congenital Enterovirus Infection
Fever, Hypoalbuminemia, Hypothermia, Hyperammonemia ORPHA:292
Man1B1-Cdg
Broad-based gait, Polyphagia ORPHA:397941
Alexander Disease
Ataxia, Hypothermia, Self-injurious behavior, Gait disturbance, Dysphagia ORPHA:58
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Insulinoma
Lethargy, Polyphagia ORPHA:97279
Angelman Syndrome
Hyperactivity, Broad-based gait, Ataxia, Aggressive behavior, Inability to walk, Tongue thrusting... ORPHA:72
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Ataxia, Dysmetria, Increased LDL cholesterol concentration, Progressive cer... OMIM:277460
Temple Syndrome
Polyphagia ORPHA:254516
Bardet-Biedl Syndrome 9
Polydipsia, Polyphagia OMIM:615986
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Fever, Cyanosis, Hypothermia, Aggressive behavior, Hyperlipidemia, Hyperkalemia, Se... ORPHA:293987
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... OMIM:619868
Smith-Magenis Syndrome
Hyperactivity, Hypertriglyceridemia, Self hugging, Head-banging, Onychotillomania, Hypercholester... OMIM:182290
Hypotonia-Cystinuria Syndrome
Polyphagia, Hypocalcemia OMIM:606407
Cebalid Syndrome
Polyphagia OMIM:618774
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Polyphagia, Hyperbilirubinemia OMIM:609734
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia OMIM:607485
Chromosome 22Q13 Duplication Syndrome
Attention deficit hyperactivity disorder, Polyphagia, Impulsivity OMIM:615538
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Methylmalonic acidemia, Hypothermia, Aggressive behavior, Unsteady gait, Choreoathetosis ORPHA:17
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Hypomethioninemia, Ataxia, Hypothermia, Hyperammonemia, Hyperhomocystinem... ORPHA:79282
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Hypothermia OMIM:608800
Trisomy 18P
Polyphagia, Attention deficit hyperactivity disorder ORPHA:1715
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration ORPHA:488650
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Hypothermia, Hyperbilirubi... OMIM:251880
Analbuminemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... OMIM:616000
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Elevated circulating creatine kinase concentration, Hypothermia OMIM:618775
Tbck-Related Intellectual Disability Syndrome
Inability to walk, Abnormal circulating lipid concentration, Hypothermia ORPHA:488632
Combined Oxidative Phosphorylation Deficiency 37
Hyperalaninemia, Hypoalbuminemia, Hypothermia OMIM:618329
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Polyphagia ORPHA:66628
Intellectual Developmental Disorder, Autosomal Dominant 1
Ataxia, Aggressive behavior, Self-injurious behavior, Inappropriate laughter, Bruxism, Recurrent ... OMIM:156200
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Polyphagia ORPHA:179494
Marburg Hemorrhagic Fever
Fever, Elevated circulating creatine kinase concentration, Anorexia, Aggressive behavior, Hyperam... ORPHA:99826
Magel2-Related Prader-Willi-Like Syndrome
Impulsivity, Abnormal temper tantrums, Compulsive behaviors, Skin-picking, Lethargy, Temperature ... ORPHA:398069
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616828
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Hypothermia, Increased blood urea nitrogen ORPHA:230
Hypothyroidism, Congenital, Nongoitrous, 2
Lethargy, Increased circulating thyroglobulin level, Hypothermia, Hyperbilirubinemia OMIM:218700
Secondary Short Bowel Syndrome
Low plasma citrulline, Polyphagia, Abnormal blood ion concentration, Steatorrhea ORPHA:95427
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Ataxia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Orthostatic Hypotension 1
Hypomagnesemia, Intermittent hypothermia, Increased blood urea nitrogen OMIM:223360
Hereditary Sensory And Autonomic Neuropathy Type 4
Nail-biting, Hyperactivity, Unexplained fevers, Impulsivity, Hypothermia, Difficulty walking, Dys... ORPHA:642
Luscan-Lumish Syndrome
Polyphagia, Aggressive behavior OMIM:616831
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Wagro Syndrome
Agitation, Polyphagia, Compulsive behaviors, Aggressive behavior OMIM:612469
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Restlessness, Broad-based gait, Aggressive behavior, Polyphagia, Self-mutilation ORPHA:251028
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia OMIM:306000
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia OMIM:612526
Sim1-Related Prader-Willi-Like Syndrome
Lethargy, Skin-picking, Polyphagia, Abnormal temper tantrums ORPHA:398079
Pediatric-Onset Graves Disease
Hyperactivity, Polydipsia, Polyphagia ORPHA:525731
Smith-Magenis Syndrome
Hypertriglyceridemia, Self-injurious behavior, Gait disturbance, Attention deficit hyperactivity ... ORPHA:819
Cog4-Cdg
Hypercholesterolemia, Ataxia ORPHA:263501
Paternal Uniparental Disomy Of Chromosome 1
Polyphagia, Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Idiopathic Steroid-Resistant Nephrotic Syndrome
Fever, Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid co... ORPHA:567548
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Lethargy, Abnormal circulating thyroglobulin level, Hypothermia ORPHA:226307
Chromosome Xq26.3 Duplication Syndrome
Polyphagia OMIM:300942
Neuhauser Syndrome
Hypercholesterolemia, Ataxia, Dysphagia OMIM:249310
7Q11.23 Microduplication Syndrome
Hyperactivity, Collectionism, Aggressive behavior, Unsteady gait, Polyphagia, Dysmetria, Self-inj... ORPHA:96121
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Bulimia, Self-injurious behavior, Abnormal temper tantrums, Skin-picking, Obsessive-compulsive tr... ORPHA:98793
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Bulimia, Self-injurious behavior, Abnormal temper tantrums, Skin-picking, Obsessive-compulsive tr... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Bulimia, Self-injurious behavior, Abnormal temper tantrums, Skin-picking, Obsessive-compulsive tr... ORPHA:177901
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Broad-based gait, Decreased serum iron, Hypothermia, Inability to walk, Dysphagia, Stereotypical ... ORPHA:438213
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Prader-Willi Syndrome
Self-injurious behavior, Temperature instability, Polyphagia, Attention deficit hyperactivity dis... OMIM:176270
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia, Abnormal repetitive mannerisms, Ataxia ORPHA:2479
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Bulimia, Self-injurious behavior, Abnormal temper tantrums, Skin-picking, Polyphagia ORPHA:98754
Occipital Horn Syndrome
Hypothermia, Dysphagia ORPHA:198
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
X-Linked Acrogigantism
Polyphagia, Ataxia ORPHA:300373
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... OMIM:605814
Gangliocytoma
Polyphagia ORPHA:251937
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Pseudohypoparathyroidism Type 1A
Calcinosis, Choreoathetosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Polyphagia, Hy... ORPHA:79443
Laron Syndrome
Hypercholesterolemia ORPHA:633
Menkes Disease
Hypothermia ORPHA:565
Adnp Syndrome
Aggressive behavior, Oral-pharyngeal dysphagia, Abnormal temper tantrums, Attention deficit hyper... ORPHA:404448
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... ORPHA:247598
Pseudohypoparathyroidism Type 1C
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Polyphagia, Hypocalcemic seizures ORPHA:79444
Weaver Syndrome
Polyphagia OMIM:277590
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Addictive alcohol use ORPHA:90065
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Hyperuricemia ORPHA:77296
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... OMIM:207750
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Broad-based gait, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious beha... OMIM:620330
Lysinuric Protein Intolerance
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... ORPHA:470
Galactokinase Deficiency
Increased level of galactitol in plasma, Hypercholesterolemia, Hypergalactosemia ORPHA:79237
Cholesteryl Ester Storage Disease
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... OMIM:278000
Prader-Willi Syndrome
Polyphagia, Attention deficit hyperactivity disorder ORPHA:739
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Bruxism, Compulsive behaviors, Dysphagia, Attentio... OMIM:615873
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Hypertriglyceridemia, Increased C-peptide level ORPHA:528
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Cholestasis, Progressive Familial Intrahepatic, 8
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... OMIM:619662
Congenital Analbuminemia
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia ORPHA:86816
Mandibuloacral Dysplasia
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level ORPHA:2457
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... OMIM:238600
Sarcoidosis
Fever, Hypercalcemia, Hypothermia ORPHA:797
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... ORPHA:412
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Decreased resting energy expenditure, Inability to walk, Decreased LDL cholesterol concentration,... ORPHA:404454
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Craniopharyngioma
Polyphagia ORPHA:54595
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
1P36 Deletion Syndrome
Polyphagia, Self-injurious behavior, Gait disturbance, Dysphagia, Abnormal repetitive mannerisms ORPHA:1606
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:209902
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Polyphagia, Elevated hemoglobin A1c OMIM:269700
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia, Polyphagia OMIM:608594
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:615812
Sitosterolemia 1
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Hypercho... OMIM:210250
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:79240
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:264580
Chromosome 1P36 Deletion Syndrome, Distal
Aggressive behavior, Dysphagia, Polyphagia, Self-mutilation, Oppositional defiant disorder OMIM:607872
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dysphagia, Hypercholesterolemia OMIM:606721
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hypoammonemia, Hypophosphatemia, Self-injurious behavior, Hypokalemia, Hyperaldoste... ORPHA:534
Steinert Myotonic Dystrophy
Aggressive behavior, Oral-pharyngeal dysphagia, Inability to walk, Falls, Gait disturbance, Hyper... ORPHA:273
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hypercholesterolemia, Hyperlipidemia OMIM:248370
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia ORPHA:69663
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Hyperkalemia, Xanthelasma, Steatorrhea, Hypercholesterolemia ORPHA:275761
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:151660
Gaisböck Syndrome
Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hyperch... ORPHA:90041
Lowe Oculocerebrorenal Syndrome
Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Ag... OMIM:309000
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hypercholesterolemia ORPHA:79259
Immunodeficiency 47
Hypercholesterolemia, Decreased circulating copper concentration OMIM:300972
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
Bardet-Biedl Syndrome 20
Hypercholesterolemia OMIM:619471
Alagille Syndrome 1
Hypercholesterolemia, Hypertriglyceridemia OMIM:118450
Alström Syndrome
Hyperlipidemia, Hypertriglyceridemia, Polyphagia, Ataxia ORPHA:64
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating... OMIM:619534
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia ORPHA:391665

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 Hilpda

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 Hilpda.

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

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Hilpdatm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Hilpdaem1(IMPC)Mhzh Deletion Mice
Hilpdatm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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