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Gene: Hacd2 MGI:1918007

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
3-hydroxyacyl-CoA dehydratase 2
Synonyms:
Ptplb,  6330408J20Rik

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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 Hacd2 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 Hacd2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Short Stature Due To Ghsr Deficiency
Short stature, Abnormality of body weight, Hypoglycemia, Growth delay, Decreased body weight, Del... ORPHA:314811
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Elevated lactate:pyruvate ratio, Hypoglycemia, Postnatal growth retardation, Increased serum lact... OMIM:616111
3-Hydroxyisobutyric Aciduria
Ketoacidosis, Lactic acidosis, Failure to thrive, Episodic ketoacidosis OMIM:236795
Combined Oxidative Phosphorylation Deficiency 17
Postnatal growth retardation, Intrauterine growth retardation, Lactic acidosis, Failure to thrive OMIM:615440
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Metabolic acidosis, Intrauterine growth retardation, Failure to thrive, Let... ORPHA:26792
Riboflavin Deficiency
Metabolic acidosis, Lethargy, Lactic acidosis, Hypoglycemia OMIM:615026
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Large for gestational age, Re... ORPHA:324575
Combined Oxidative Phosphorylation Deficiency 2
Small for gestational age, Increased serum lactate, Lactic acidosis, Neonatal death, Lethargy OMIM:610498
Dihydrolipoamide Dehydrogenase Deficiency
Hypoglycemia, Ketoacidosis, Lactic acidosis, Metabolic acidosis, Lethargy OMIM:246900
Mitochondrial Complex I Deficiency, Nuclear Type 25
Lactic acidosis, Intrauterine growth retardation, Failure to thrive OMIM:618246
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Increased serum lactate, Failure to thrive, Hypoglycemia, Metabolic acidosis OMIM:610090
Combined Oxidative Phosphorylation Deficiency 8
Increased serum lactate, Lactic acidosis, Metabolic acidosis, Neonatal death, Failure to thrive OMIM:614096
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Short stature, Hypoglycemia, Ketoacidosis, Lactic acidosis, Elevated serum anion gap, Lethargy OMIM:618120
Pituitary Hormone Deficiency, Combined, 4
Severe postnatal growth retardation, Pituitary dwarfism, Short stature, Hypoglycemia OMIM:262700
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Increased serum lactate, Lactic acidosis, Failure to thrive, Metabolic acidosis ORPHA:91130
Mitochondrial Complex I Deficiency, Nuclear Type 6
Increased serum lactate, Lactic acidosis, Metabolic acidosis, Severe lactic acidosis, Lethargy, F... OMIM:618228
Short Stature Due To Partial Ghr Deficiency
Growth delay, Short stature, Hypoglycemia, Delayed puberty ORPHA:314802
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Mulibrey Nanism
Intrauterine growth retardation, Short stature, Cachexia ORPHA:2576
Combined Oxidative Phosphorylation Deficiency 23
Lactic acidosis, Intrauterine growth retardation, Failure to thrive, Increased serum lactate OMIM:616198
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Weight loss, Lactic acidosis, Severe lactic acidosis, Failure to thrive OMIM:612075
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Increased serum lactate, Growth delay, Lactic acidosis, Lethargy, Failure to thrive OMIM:613561
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Increased serum lactate, Chronic lactic acidosis, Lactic acidosis, Met... OMIM:312170
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Intrauterine growth retardation, Severe short stature, Hypoglycemia OMIM:223500
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia, Increased serum lactate OMIM:240600
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Elevated lactate:pyruvate ratio, Hypoglycemia, Metabolic ketoacidosis, Increased serum lactate, K... OMIM:615453
2P21 Microdeletion Syndrome
Growth delay, Lactic acidosis, Failure to thrive, Hypoglycemia ORPHA:163693
3-Methylglutaconic Aciduria Type 4
Lactic acidosis, Failure to thrive, Hypoglycemia ORPHA:67048
Glycogen Storage Disease Vi
Postnatal growth retardation, Failure to thrive in infancy, Hypoglycemia OMIM:232700
Combined Oxidative Phosphorylation Deficiency 38
Wolff-Parkinson-White syndrome, Decreased activity of mitochondrial ATP synthase complex, Decreas... OMIM:618378
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Fasting hypoglycemia, Hyperinsuli... ORPHA:276608
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in upper limbs, Increased mitochondrial number, Short stature, Ragged-re... ORPHA:457050
Combined Oxidative Phosphorylation Deficiency 10
Small for gestational age, Hypoglycemia, Increased serum lactate, Lactic acidosis, Metabolic acid... OMIM:614702
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Lethargy, Failure to thrive ORPHA:79283
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Lactic acidosis, Short stature, Failure to thrive in infancy OMIM:619065
Hypothyroidism, Congenital, Nongoitrous, 7
Growth delay, Lethargy, Short stature OMIM:618573
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Increased serum lactate, Hypoglycemia, Metabolic acidosis OMIM:615158
Combined Oxidative Phosphorylation Deficiency 48
Increased serum lactate, Lactic acidosis, Failure to thrive OMIM:619012
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestational age OMIM:601820
Pyruvate Dehydrogenase E3 Deficiency
Hypoglycemia, Increased serum lactate, Lactic acidosis, Lethargy, Failure to thrive ORPHA:2394
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Short stature, Cachexia ORPHA:1144
Developmental And Epileptic Encephalopathy 40
Intrauterine growth retardation, Small for gestational age, Lethargy OMIM:617065
Combined Oxidative Phosphorylation Deficiency 34
Increased serum lactate, Lactic acidosis, Failure to thrive, Hypoglycemia OMIM:617872
Mitochondrial Complex I Deficiency, Nuclear Type 5
Increased serum lactate, Growth delay, Lactic acidosis, Metabolic acidosis, Lethargy, Failure to ... OMIM:618226
Lambert Syndrome
Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect ORPHA:1296
Homocystinuria Without Methylmalonic Aciduria
Lethargy, Failure to thrive ORPHA:622
Mitochondrial Complex I Deficiency, Nuclear Type 22
Elevated lactate:pyruvate ratio, Intrauterine growth retardation, Lactic acidosis OMIM:618243
Barth Syndrome
Dilated cardiomyopathy, Abnormal mitochondrial morphology, Endocardial fibroelastosis ORPHA:111
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Fasting hy... ORPHA:276580
Combined Oxidative Phosphorylation Deficiency 30
Elevated lactate:pyruvate ratio, Lactic acidosis, Failure to thrive, Increased serum lactate OMIM:616974
Mitochondrial Complex I Deficiency, Nuclear Type 34
Metabolic acidosis, Intrauterine growth retardation, Lactic acidosis OMIM:618776
Mitochondrial Complex I Deficiency, Nuclear Type 11
Lactic acidosis, Failure to thrive, Metabolic acidosis, Increased serum lactate OMIM:618234
Mitochondrial Complex I Deficiency, Nuclear Type 35
Elevated lactate:pyruvate ratio, Lactic acidosis, Metabolic acidosis, Neonatal death, Intrauterin... OMIM:619003
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Growth delay, Short stature, Obesity, Fasting hypoglycemia ORPHA:171706
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Short stature, Ketotic hypoglycemia, Glycosuria, Postprandial hyperglycemia, Lethargy, Failure to... ORPHA:2089
3-Methylglutaconic Aciduria Type 1
Failure to thrive, Hypoglycemia ORPHA:67046
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Short stature, Hypoglycemia, Postprandial hyperlactemia, Growth delay, Delayed puberty, Failure t... ORPHA:369
Dihydropyrimidine Dehydrogenase Deficiency
Growth delay, Lethargy, Failure to thrive OMIM:274270
Mitochondrial Pyruvate Carrier Deficiency
Lactic acidosis, Increased serum lactate, Hypoglycemia OMIM:614741
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Methylmalonic Acidemia With Homocystinuria
Lethargy, Failure to thrive ORPHA:26
Hyperinsulinism Due To Ucp2 Deficiency
Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Recurrent hypoglycemia, ... ORPHA:276556
Moynahan Syndrome
Short stature, Cachexia ORPHA:2574
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Elevated lactate:pyruvate ratio, Hypoglycemia, Growth delay, Lactic acidosis, Neonatal death, Int... OMIM:245400
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Short stature, Hypoglycemia, Small for gestational age, Postnatal growth retardation, Decreased b... ORPHA:231140
Hereditary Central Diabetes Insipidus
Growth delay, Lethargy, Weight loss ORPHA:30925
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Increased serum lactate, Lactic acidosis, Metabolic acidosis, Failure to thrive, Neonatal hypogly... OMIM:619046
Mitochondrial Complex I Deficiency, Nuclear Type 7
Lactic acidosis, Failure to thrive OMIM:618229
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Isolated Growth Hormone Deficiency, Type Ia
Growth delay, Severe short stature, Hypoglycemia OMIM:262400
Verheij Syndrome
Branchial cyst, Ventricular septal defect, Short stature, Short neck, Clinodactyly, Growth delay,... OMIM:615583
Mitochondrial Myopathy, Infantile, Transient
Lactic acidosis, Failure to thrive, Increased serum lactate OMIM:500009
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hypoglycemia, Increased serum lactate, Metabolic acidosis, Intrauterine growth retardation, Failu... OMIM:619048
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Mitochondrial Complex I Deficiency, Nuclear Type 16
Lactic acidosis, Intrauterine growth retardation, Failure to thrive OMIM:618238
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Fasting hypoglycemia, Hyperin... ORPHA:276575
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Lactic acidosis, Failure to thrive, Increased serum lactate ORPHA:255182
Glycogen Storage Disease Ixc
Hypoglycemia, Postnatal growth retardation, Increased serum lactate, Growth delay, Lactic acidosi... OMIM:613027
Mitochondrial Complex I Deficiency, Nuclear Type 3
Metabolic acidosis, Lethargy OMIM:618224
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:610021
Hsd10 Disease, Neonatal Type
Metabolic acidosis, Lactic acidosis ORPHA:391457
Combined Malonic And Methylmalonic Acidemia
Dicarboxylic acidemia, Methylmalonic acidemia, Hypoglycemia, Acidosis, Ketoacidosis, Failure to t... ORPHA:289504
Mitochondrial Complex I Deficiency, Nuclear Type 15
Increased serum lactate, Metabolic acidosis, Neonatal death, Intrauterine growth retardation, Fai... OMIM:618237
Hypotonia-Cystinuria Syndrome
Postnatal growth retardation, Increased serum lactate, Lactic acidosis, Failure to thrive, Neonat... OMIM:606407
Pyruvate Carboxylase Deficiency
Increased serum lactate, Lactic acidosis, Hypoglycemia, Proximal renal tubular acidosis OMIM:266150
Combined Oxidative Phosphorylation Deficiency 31
Lactic acidosis, Failure to thrive, Increased serum lactate OMIM:617228
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Short stature, Distal renal tubular acidosis, Metabolic acidosis, Lethargy, Failure to thrive, Hy... OMIM:611590
Lethal Infantile Mitochondrial Myopathy
Lethargy, Severe lactic acidosis ORPHA:254857
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... ORPHA:79299
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Small for gestational age, Short stature, Hypoglycemia, Insulin-resistant diabetes mellitus, Hype... OMIM:262190
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Increased serum lactate, Proximal renal tubular acidosis, Lactic acidosis, Metabolic acidosis, In... OMIM:615824
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Pyruvate Dehydrogenase Phosphatase Deficiency
Increased serum lactate, Lactic acidosis ORPHA:79246
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hypoglycemia, Hyperinsulinemia OMIM:606528
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Lactic acidosis, Failure to thrive, Hypoglycemia, Increased serum lactate OMIM:614739
Mitochondrial Complex I Deficiency, Nuclear Type 33
Small for gestational age, Hypoglycemia, Increased serum lactate, Lactic acidosis, Metabolic acid... OMIM:618253
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Hsd10 Mitochondrial Disease
Elevated circulating tiglylglycine concentration, Hypertrophic cardiomyopathy, Abnormal mitochond... OMIM:300438
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Neonatal death, Lactic acidosis OMIM:617184
Propionic Acidemia
Short stature, Hypoglycemia, Lactic acidosis, Metabolic acidosis, Lethargy, Failure to thrive OMIM:606054
Combined Oxidative Phosphorylation Deficiency 47
Hypoglycemia, Increased serum lactate, Metabolic acidosis, Intrauterine growth retardation, Failu... OMIM:618958
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Metabolic ketoacidosis, Hyperinsulinemia, Increased body weight, Glyco... ORPHA:263455
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Intrauterine growth retardation, Metabolic acidosis OMIM:301021
Mitochondrial Myopathy With Lactic Acidosis
Increased serum lactate, Lactic acidosis, Elevated serum anion gap OMIM:251950
Spinocerebellar Ataxia 48
Cachexia, Depression OMIM:618093
Combined Oxidative Phosphorylation Deficiency 52
Increased serum lactate, Lethargy, Hypoglycemia, Metabolic acidosis OMIM:619386
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Short stature, Hypoglycemia ORPHA:366
Glutaric Acidemia Type 3
Ketoacidosis, Lethargy, Failure to thrive, Elevated circulating glutaric acid concentration ORPHA:35706
Malonyl-Coa Decarboxylase Deficiency
Lactic acidosis, Short stature, Metabolic acidosis, Hypoglycemia OMIM:248360
Combined Oxidative Phosphorylation Deficiency 20
Lactic acidosis, Small for gestational age OMIM:615917
Tricarboxylic Acid Cycle, Defect Of
Persistent lactic acidosis OMIM:275370
Mitochondrial Complex I Deficiency, Nuclear Type 39
Lactic acidosis, Intrauterine growth retardation, Small for gestational age OMIM:620135
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Phenformin 4-Hydroxylation
Lactic acidosis OMIM:261590
Multiple Mitochondrial Dysfunctions Syndrome 1
Increased serum lactate, Lactic acidosis, Neonatal death, Lethargy, Episodic metabolic acidosis, ... OMIM:605711
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Proportionate short stature, Neonatal hypoglycemia, Fasting hyperinsulinemia, Hypoglycemic seizur... ORPHA:71212
Central Diabetes Insipidus
Lethargy, Failure to thrive, Weight loss, Depression ORPHA:178029
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Coenzyme Q10 Deficiency, Primary, 4
Elevated lactate:pyruvate ratio, Lactic acidosis, Increased serum lactate OMIM:612016
Sulfide:Quinone Oxidoreductase Deficiency
Lactic acidosis OMIM:619221
Succinic Acidemia
Lactic acidosis OMIM:600335
Mitochondrial Complex I Deficiency, Nuclear Type 9
Neonatal death, Lethargy, Lactic acidosis OMIM:618232
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Intrauterine growth retardation, Small for gestational age, Hypoglycemia ORPHA:231147
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Lactic acidosis, Failure to thrive, Metabolic acidosis, Increased serum lactate ORPHA:70472
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Small for gestational age, Hypoglycemia, Increased serum lactate, Lactic acidosis, Metabolic acid... OMIM:619055
Mitochondrial Myopathy, Lethal, Infantile
Lactic acidosis OMIM:551000
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Increased serum lactate, Small for gestational age, Metabolic acidosis, Hypoglycemia OMIM:615160
Glycogen Storage Disease Ixa1
Growth delay, Lactic acidosis, Hypoglycemia OMIM:306000
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3
Lactic acidosis OMIM:614053
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
3-Hydroxyisobutyric Aciduria
Lactic acidosis, Intrauterine growth retardation ORPHA:939
Dihydropyrimidinase Deficiency
Growth delay, Lethargy, Metabolic acidosis OMIM:222748
Mehmo Syndrome
Hypoglycemia, Small for gestational age, Obesity, Birth length less than 3rd percentile, Delayed ... OMIM:300148
Dna2-Related Mitochondrial Dna Deletion Syndrome
Multiple joint contractures, Decreased mitochondrial number, Limb-girdle muscle weakness, Myopath... ORPHA:352470
Mitochondrial Complex I Deficiency, Nuclear Type 19
Lactic acidosis, Hypoglycemia OMIM:618241
Mitochondrial Complex I Deficiency, Nuclear Type 14
Increased serum lactate, Lactic acidosis OMIM:618236
Oxoglutarate Dehydrogenase Deficiency
Increased serum lactate, Metabolic acidosis, Congenital lactic acidosis OMIM:203740
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Intrauterine growth retardation, Abnormality of chromosome stability OMIM:600546
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Pyruvate Dehydrogenase Phosphatase Deficiency
Lactic acidosis OMIM:608782
Combined Oxidative Phosphorylation Deficiency 28
Increased serum lactate, Severe lactic acidosis OMIM:616794
Pulmonary Blastoma
Weight loss ORPHA:64741
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Increased serum lactate, Lethargy, Failure to thrive in infancy OMIM:619064
Glut1 Deficiency Syndrome 1
Lethargy, Paroxysmal lethargy OMIM:606777
Mitochondrial Myopathy And Sideroblastic Anemia
Lactic acidosis, Delayed puberty ORPHA:2598
Pyridoxine-Dependent Epilepsy
Lactic acidosis, Hypoglycemia ORPHA:3006
Mitochondrial Complex I Deficiency, Nuclear Type 4
Increased serum lactate, Lethargy, Metabolic acidosis OMIM:618225
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Lethargy, Episodic metabolic acidosis, Failure to thrive, Hypoglycemia OMIM:210200
Mitochondrial Trifunctional Protein Deficiency 1
Small for gestational age, Lactic acidosis, Lethargy, Failure to thrive, Hypoketotic hypoglycemia OMIM:609015
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:609016
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Lactic acidosis, Increased serum lactate ORPHA:139485
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemia, Incre... ORPHA:97279
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Hypoglycemia, Metabolic ketoacidosis, Lethargy, Episodic metabolic acidos... OMIM:251000
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy, Hypoglycemia, Cachexia ORPHA:42
Methylmalonic Aciduria, Cblb Type
Methylmalonic acidemia, Metabolic acidosis, Decreased methylmalonyl-CoA mutase activity, Failure ... OMIM:251110
Sengers Syndrome
Growth delay, Lactic acidosis, Exercise-induced lactic acidemia, Increased serum lactate OMIM:212350
Pontocerebellar Hypoplasia, Type 6
Increased serum lactate, Lethargy, Failure to thrive OMIM:611523
Combined Oxidative Phosphorylation Deficiency 36
Increased serum lactate, Failure to thrive, Hypoglycemia OMIM:617950
Multiple Mitochondrial Dysfunctions Syndrome 3
Elevated lactate:pyruvate ratio, Intrauterine growth retardation, Lactic acidosis, Metabolic acid... OMIM:615330
Maple Syrup Urine Disease
Lactic acidosis, Lethargy, Hypoglycemia OMIM:248600
Mitochondrial Complex I Deficiency, Nuclear Type 17
Lactic acidosis, Increased serum lactate OMIM:618239
Aredyld Syndrome
Short stature, Lipoatrophy, Cachexia, Type II diabetes mellitus, Type I diabetes mellitus, Intrau... ORPHA:1133
Mcdonough Syndrome
Short stature, Cachexia ORPHA:2471
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Large for gestational age, Hypoglycemic seizures, Truncal obesity, Neona... ORPHA:293964
N-Acetylglutamate Synthase Deficiency
Lethargy, Failure to thrive OMIM:237310
Isovaleric Acidemia
Metabolic acidosis ORPHA:33
X-Linked Mandibulofacial Dysostosis
Short stature, Cryptorchidism, Branchial anomaly, Pulmonic stenosis, Webbed neck, Abnormal mitral... ORPHA:1131
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Short stature, Cachexia ORPHA:1389
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Increased serum lactate, Lactic acidosis, Intrauterine growth retardat... ORPHA:79243
Huntington Disease-Like 2
Weight loss, Bradykinesia, Depression, Apathy, Inertia OMIM:606438
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Lactic acidosis ORPHA:330054
Renpenning Syndrome
Growth delay, Diabetes mellitus, Severe short stature, Cachexia ORPHA:3242
Spastic Paraplegia Type 7
Ragged-red muscle fibers, Abnormal mitochondrial morphology, Upper limb muscle weakness, Lower li... ORPHA:99013
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Lactic acidosis, Lethargy, Failure to thrive, Increased serum lactate OMIM:615838
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia ORPHA:157973
Vitamin B12-Responsive Methylmalonic Acidemia
Lethargy, Failure to thrive ORPHA:28
Mitochondrial Complex I Deficiency, Nuclear Type 8
Increased serum lactate, Lactic acidosis OMIM:618230
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Lactic acidosis ORPHA:1369
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Reduced subcutaneous adipose tissue, Lipoatrophy, Lipodystrophy, Cachexia, Weight loss, Type I di... ORPHA:1979
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lethargy OMIM:613710
Microcephaly, Amish Type
Lactic acidosis, Failure to thrive OMIM:607196
Alexander Disease Type I
Failure to thrive, Cachexia ORPHA:363717
Necrotizing Enterocolitis
Small for gestational age, Increased serum lactate, Metabolic acidosis, Abnormal glucose homeosta... ORPHA:391673
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Lactic acidosis, Metabolic acidosis OMIM:245349
Combined Oxidative Phosphorylation Deficiency 41
Lactic acidosis, Intrauterine growth retardation, Hypoglycemia OMIM:618838
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Methylmalonic acidemia, Lethargy, Failure to thrive OMIM:236270
Combined Oxidative Phosphorylation Deficiency 40
Neonatal death, Intrauterine growth retardation, Lactic acidosis, Hypoglycemia OMIM:618835
Coenzyme Q10 Deficiency, Primary, 5
Lactic acidosis, Intrauterine growth retardation, Increased serum lactate OMIM:614654
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Intrauterine growth retardation, Lactic acidosis, Hypoglycemia OMIM:618839
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, Increased mito... ORPHA:263297
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Lethargy OMIM:618683
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy, Hypoglycemia OMIM:610006
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Lactic acidosis, Increased serum lactate, Short stature OMIM:619059
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Increased nuchal translucency, ... ORPHA:453499
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Lactic acidosis, Diabetes mellitus OMIM:540000
Developmental And Epileptic Encephalopathy 92
Lethargy OMIM:617829
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Short stature, Small for gestational age, Hypoglycemia, Postnatal growth retardation, Insulin res... ORPHA:73272
Methylmalonic Aciduria, Cbla Type
Methylmalonic acidemia, Metabolic acidosis, Elevated serum anion gap, Decreased methylmalonyl-CoA... OMIM:251100
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Postnatal growth retardation, Short stature, Hypoglycemia, Small for gestational age ORPHA:231137
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Methylmalonic acidemia, Small for gestational age, Short stature, Increased serum lactate, Lactic... OMIM:612073
Tuberculosis
Weight loss ORPHA:3389
Gracile Syndrome
Intrauterine growth retardation, Chronic lactic acidosis OMIM:603358
Chronic Hiccup
Weight loss, Depression ORPHA:396
Pyridoxal Phosphate-Responsive Seizures
Increased serum lactate, Failure to thrive, Hypoglycemia, Metabolic acidosis ORPHA:79096
Leigh Syndrome
Lactic acidosis, Failure to thrive, Increased serum lactate OMIM:256000
Early Myoclonic Encephalopathy
Lethargy ORPHA:1935
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Finger syndactyly, Ankle flexion contracture, Tapered finger, Cryptorchidism, Pul... ORPHA:435938
Temple Syndrome
Short stature, Small for gestational age, Postnatal growth retardation, Obesity, Recurrent hypogl... ORPHA:254516
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Lactic acidosis, Increased serum lactate OMIM:614458
Hypercalcemia, Infantile, 1
Lethargy, Failure to thrive, Weight loss OMIM:143880
Combined Oxidative Phosphorylation Deficiency 5
Growth delay, Lactic acidosis, Increased serum lactate, Metabolic acidosis OMIM:611719
3-Methylcrotonyl-Coa Carboxylase Deficiency
Failure to thrive in infancy, Hypoglycemia ORPHA:6
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Small for gestational age, Increased serum lactate, Lactic acidosis, Metabolic acidosis, Intraute... OMIM:617021
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Lactic acidosis OMIM:615119
Combined Oxidative Phosphorylation Deficiency 11
Increased serum lactate, Lactic acidosis, Renal tubular acidosis, Stillbirth, Neonatal death, Let... OMIM:614922
Combined Oxidative Phosphorylation Deficiency 4
Increased serum lactate, Intrauterine growth retardation, Lactic acidosis, Metabolic acidosis OMIM:610678
Glycine Encephalopathy 1
Lethargy OMIM:605899
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Lactic acidosis, Increased serum lactate OMIM:617668
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Elevated lactate:pyruvate ratio, Stress/infection-induced lactic acidosis, Increased serum lactat... OMIM:252011
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Respiratory alkalosis, Hypoglycemia, Increased serum lactate, Ketoacidosis, Lactic acidosis, Meta... OMIM:615751
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Intrauterine growth retardation, Failure to thrive in infancy, Cachexia OMIM:616801
Rhizomelic Chondrodysplasia Punctata, Type 2
Short humerus, Decreased circulating plasmalogen concentration, Rhizomelia, Flexion contracture, ... OMIM:222765
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Increased serum lactate, Hypoglycemia, Metabolic acidosis OMIM:620137
Diarrhea 13
Recurrent hypoglycemia, Failure to thrive OMIM:620357
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Metabolic acidosis, Lethargy, Hypoglycemia OMIM:201450
Silver-Russell Syndrome
Short stature, Failure to thrive in infancy, Cachexia, Postnatal growth retardation, Insulin resi... ORPHA:813
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Short stature, Ketotic hypoglycemia, Postnatal growth retardation, Increased body weight, Lactic ... ORPHA:79240
Glucose/Galactose Malabsorption
Metabolic acidosis, Failure to thrive, Abnormal oral glucose tolerance, Glycosuria OMIM:606824
Infantile Liver Failure Syndrome 1
Lactic acidosis, Failure to thrive OMIM:615438
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Lactic acidosis, Intrauterine growth retardation, Increased serum lactate, Metabolic acidosis OMIM:619051
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Lactic acidosis, Intrauterine growth retardation, Increased serum lactate, Hypoglycemia OMIM:617710
Triokinase And Fmn Cyclase Deficiency Syndrome
Lactic acidosis, Failure to thrive in infancy OMIM:618805
Hyperinsulinemic Hypoglycemia, Familial, 8
Short stature, Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Growth delay OMIM:620211
Mitochondrial Neurogastrointestinal Encephalomyopathy
Lactic acidosis, Cachexia, Weight loss ORPHA:298
Combined Oxidative Phosphorylation Deficiency 18
Increased serum lactate, Intrauterine growth retardation, Lactic acidosis OMIM:615578
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Short stature, Bicarbonate-wasting renal tubular acidosis, Proximal renal tubular acidosis, Growt... OMIM:604278
Hyperlysinuria With Hyperammonemia
Growth delay, Lethargy OMIM:238750
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Lethargy OMIM:617900
Lipoyltransferase 1 Deficiency
Lactic acidosis, Increased serum lactate OMIM:616299
Pyruvate Dehydrogenase E1-Beta Deficiency
Lactic acidosis OMIM:614111
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Increased serum lactate, Growth delay, Lactic acidosis, Delayed puberty, Failure to thrive OMIM:600462
Platelet-Activating Factor Acetylhydrolase Deficiency
Increased level of platelet-activating factor OMIM:614278
Isolated Complex I Deficiency
Diabetes mellitus, Hypoglycemia, Lactic acidosis, Intrauterine growth retardation, Failure to thr... ORPHA:2609
Citrullinemia Type I
Lethargy, Respiratory alkalosis, Failure to thrive ORPHA:247525
Barth Syndrome
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur... OMIM:302060
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Hypoglycemia, Ketoacidosis, Metabolic acidosis, Lethargy, Failure to thrive OMIM:210210
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Lactic acidosis, Increased serum lactate OMIM:618416
Carnitine Deficiency, Systemic Primary
Impaired gluconeogenesis, Lethargy, Recurrent hypoglycemia, Failure to thrive OMIM:212140
Isovaleric Acidemia
Ketoacidosis, Lethargy, Metabolic acidosis OMIM:243500
Hsd10 Disease, Infantile Type
Lactic acidosis, Increased serum lactate, Hypoglycemia, Metabolic acidosis ORPHA:391428
Gaba-Transaminase Deficiency
Lethargy OMIM:613163
Hawkinsinuria
Metabolic acidosis, Failure to thrive ORPHA:2118
Ethylmalonic Encephalopathy
Lactic acidosis, Failure to thrive ORPHA:51188
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Lactic acidosis OMIM:609560
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Lethargy, Respiratory alkalosis, Failure to thrive OMIM:237300
Christianson Syndrome
Cachexia ORPHA:85278
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1
Lactic acidosis, Failure to thrive, Increased serum lactate OMIM:614388
Idiopathic Intracranial Hypertension
Lethargy, Obesity, Depression ORPHA:238624
Carnitine Palmitoyl Transferase 1A Deficiency
Renal tubular acidosis, Lethargy, Hypoglycemia ORPHA:156
Holoprosencephaly
Encephalocele, Hyponatremia, Ventricular septal defect, Abnormal pulmonary valve morphology, Cong... ORPHA:2162
Mitochondrial Complex I Deficiency, Nuclear Type 37
Growth delay, Lactic acidosis, Failure to thrive, Increased serum lactate OMIM:619272
Flynn-Aird Syndrome
Type II diabetes mellitus, Cachexia ORPHA:2047
Hsd10 Disease
Postnatal growth retardation, Chronic lactic acidosis ORPHA:391417
Combined Oxidative Phosphorylation Deficiency 1
Elevated lactate:pyruvate ratio, Intrauterine growth retardation, Increased serum lactate, Metabo... OMIM:609060
Immunodeficiency 83, Susceptibility To Viral Infections
Lethargy OMIM:613002
Combined Oxidative Phosphorylation Deficiency 9
Elevated lactate:pyruvate ratio, Ketoacidosis, Increased serum lactate, Metabolic acidosis, Eleva... OMIM:614582
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Lactic acidosis, Impaired gluconeogenesis, Hypoglycemia, Fasting hypoglycemia OMIM:261680
Isolated Glycerol Kinase Deficiency
Metabolic acidosis, Short stature ORPHA:408
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased mitochondrial number, Decreased activity of mitochondrial complex IV, Hyperglycinemia OMIM:619063
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Severe Canavan Disease
Lethargy ORPHA:314911
Thiamine-Responsive Megaloblastic Anemia Syndrome
Lethargy, Diabetes mellitus, Short stature ORPHA:49827
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Elevated lactate:pyruvate ratio, Lethargy, Lactic acidosis, Increased serum lactate OMIM:604377
Pyruvate Dehydrogenase E1-Beta Deficiency
Lactic acidosis, Intrauterine growth retardation, Decreased body weight ORPHA:255138
Encephalopathy, Ethylmalonic
Lactic acidosis, Failure to thrive OMIM:602473
Isolated Atp Synthase Deficiency
Lactic acidosis, Lethargy, Short stature ORPHA:254913
Riboflavin Transporter Deficiency
Cachexia ORPHA:97229
Fructose-1,6-Bisphosphatase Deficiency
Hypoglycemia, Lactic acidosis, Metabolic acidosis, Fasting hypoglycemia, Intermittent lactic acid... ORPHA:348
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Short stature, Cachexia ORPHA:1933
Frontotemporal Dementia With Motor Neuron Disease
Abnormal mitochondrial morphology, Generalized amyotrophy ORPHA:275872
Ring Chromosome 10 Syndrome
Intrauterine growth retardation, Cachexia ORPHA:1438
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Lactic acidosis OMIM:618815
Xfe Progeroid Syndrome
Severe short stature, Cachexia, Absence of subcutaneous fat, Defective DNA repair after ultraviol... OMIM:610965
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Short stature, Hypoglycemia, Increased body weight, Growth delay, Lactic acidosis, Renal tubular ... ORPHA:264580
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Decreased mitochondrial number, Elevated circulating creatine kinase concentration, Dilated cardi... ORPHA:352447
Fructose-1,6-Bisphosphatase Deficiency
Metabolic acidosis, Lethargy, Hypoglycemia OMIM:229700
Classic Glucose Transporter Type 1 Deficiency Syndrome
Lethargy ORPHA:71277
Mody
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... ORPHA:552
Beta-Ketothiolase Deficiency
Hypoglycemia, Increased serum lactate, Ketoacidosis, Weight loss, Metabolic acidosis, Apathy, Hyp... ORPHA:134
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, Branchial fistula, Bowing of the long bones, Toe syndactyly, Ventricular se... ORPHA:261330
Renal Hypoplasia, Bilateral
Short stature, Small for gestational age, Growth delay, Metabolic acidosis, Glycosuria, Lethargy,... ORPHA:97362
Tetrasomy 12P
Short stature, Cachexia ORPHA:884
Febrile Infection-Related Epilepsy Syndrome
Lethargy ORPHA:163703
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Methylmalonic acidemia, Skeletal muscle atrophy, Short humerus, Abnormal mitochondrial shape, Sho... ORPHA:17
Neonatal Hemochromatosis
Hypoglycemia ORPHA:446
Mitochondrial Complex I Deficiency, Nuclear Type 29
Elevated lactate:pyruvate ratio, Lactic acidosis, Failure to thrive, Increased serum lactate OMIM:618250
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Lethargy, Failure to thrive OMIM:250620
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Growth delay, Lethargy, Failure to thrive, Methylmalonic acidemia OMIM:614857
Acyl-Coa Dehydrogenase 9 Deficiency
Nonketotic hypoglycemia, Lactic acidosis, Failure to thrive, Increased serum lactate ORPHA:99901
Diarrhea 4, Malabsorptive, Congenital
Failure to thrive, Hyperchloremic metabolic acidosis OMIM:610370
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Metabolic acidosis, Lactic acidosis OMIM:616501
Idiopathic Achalasia
Weight loss ORPHA:930
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Severe failure to thrive, Intrauterine growth retardation, Short stature, Cachexia ORPHA:371364
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... ORPHA:60041
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Lactic acidosis, Short stature ORPHA:1170
Mitochondrial Complex I Deficiency, Nuclear Type 13
Acidosis, Failure to thrive, Metabolic acidosis OMIM:618235
Combined Oxidative Phosphorylation Deficiency 19
Lactic acidosis, Failure to thrive, Metabolic acidosis OMIM:615595
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Metabolic acidosis ORPHA:2597
Hjv Or Hamp-Related Hemochromatosis
Lethargy, Diabetes mellitus ORPHA:79230
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Diabetes mellitus, Small for gestational age, Dorsocervical fat pad, Proportionate short stature,... ORPHA:391408
Blue Diaper Syndrome
Metabolic acidosis, Recurrent hypoglycemia, Increased body weight, Increased proinsulin:insulin r... ORPHA:94086
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Methylmalonic acidemia, Decreased methylmalonyl-CoA mutase activity, Lethargy OMIM:277410
Holocarboxylase Synthetase Deficiency
Growth delay, Lethargy, Weight loss ORPHA:79242
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated lactate:pyruvate ratio, Hypoglycemia, Increased serum lactate, Depression, Lactic acidos... OMIM:124000
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Familial Hypoaldosteronism
Proximal renal tubular acidosis, Growth delay, Metabolic acidosis, Lethargy, Failure to thrive ORPHA:427
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Lactic acidosis, Lethargy OMIM:614299
Neuropathy, Congenital Hypomyelinating, 3
Neonatal death, Cachexia OMIM:618186
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Growth delay, Distal renal tubular acidosis, Failure to thrive, Metabolic acidosis OMIM:602722
Endocardial Fibroelastosis
Hypoglycemia ORPHA:2022
Muscular Dystrophy, Congenital, Megaconial Type
Facial palsy, Elevated circulating creatine kinase concentration, Mitochondrial hypertrophy, Dila... OMIM:602541
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Carnitine Palmitoyltransferase I Deficiency
Renal tubular acidosis, Lethargy, Hypoketotic hypoglycemia OMIM:255120
Kearns-Sayre Syndrome
Diabetes mellitus, Short stature, Lactic acidosis, Renal tubular acidosis, Renal Fanconi syndrome OMIM:530000
Classic Galactosemia
Lethargy, Hypoglycemia, Depression, Delayed puberty ORPHA:79239
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Toe syndactyly, Ventricular septal defect, Camptodactyly of finger, Tricuspid ... ORPHA:261337
Glycerol Kinase Deficiency
Short stature, Hypoglycemia, Small for gestational age, Ketoacidosis, Growth delay, Metabolic aci... OMIM:307030
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Lactic acidosis, Intrauterine growth retardation, Stress/infection-induced lactic acidosis, Small... OMIM:618775
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Small for gestational age, Increased serum lactate, Growth delay, Lactic acidosis, Neonatal death... OMIM:614052
Oligomeganephronia
Branchial cyst, Pulmonary venous occlusion, Congenital diaphragmatic hernia, Secundum atrial sept... ORPHA:2260
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Diabetes mellitus, Short stature, Hypoglycemia, Large for gestational age, Metabolic acidosis, Gl... OMIM:616026
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Short stature, Short distal phalanx of finger OMIM:609166
Wolman Disease
Growth delay, Cachexia ORPHA:75233
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Lethargy, Hypoketotic hypoglycemia OMIM:600649
Pelizaeus-Merzbacher Disease
Short stature, Failure to thrive in infancy, Cachexia ORPHA:702
Gracile Syndrome
Lactic acidosis, Intrauterine growth retardation, Renal Fanconi syndrome ORPHA:53693
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Postaxial polydactyly, Cryptorchidism, Increase... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Postaxial polydactyly, Cryptorchidism, Increase... ORPHA:352665
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Lethargy, Failure to thrive ORPHA:79312
Pyruvate Carboxylase Deficiency
Elevated lactate:pyruvate ratio, Hypoglycemia, Increased serum lactate, Growth delay, Lactic acid... ORPHA:3008
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Intrauterine growth retardation, Short stature, Hypoglycemia ORPHA:48431
Combined Oxidative Phosphorylation Deficiency 37
Lactic acidosis, Failure to thrive, Hypoglycemia, Increased serum lactate OMIM:618329
Fumarase Deficiency
Reduced subcutaneous adipose tissue, Decreased fumarate hydratase activity, Lactic acidosis, Meta... OMIM:606812
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Small for gestational age, Increased serum lactate, Growth delay, Lactic acidosis, Renal tubular ... OMIM:615471
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Intrauterine growth retardation, Chromosomal breakage induced by cr... OMIM:609054
Thyroid Dyshormonogenesis 1
Growth delay, Lethargy OMIM:274400
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia ORPHA:35878
Infantile Liver Failure Syndrome 2
Lethargy, Hypoglycemia OMIM:616483
Combined Oxidative Phosphorylation Deficiency 32
Lactic acidosis, Increased serum lactate OMIM:617664
Cyclic Vomiting Syndrome
Growth delay, Lethargy OMIM:500007
Autosomal Recessive Dopa-Responsive Dystonia
Bradykinesia, Lethargy ORPHA:101150
Galactose Epimerase Deficiency
Growth delay, Weight loss ORPHA:79238
Laron Syndrome
Truncal obesity, Severe short stature, Hypoglycemia, Delayed puberty ORPHA:633
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Distal lower limb amyotrophy, Thenar muscle atrophy, Mitochondrial hypertrophy, Decreased activit... OMIM:500013
Methylcobalamin Deficiency Type Cble
Postnatal growth retardation, Intrauterine growth retardation, Failure to thrive, Lethargy ORPHA:2169
Combined Oxidative Phosphorylation Deficiency 12
Bradykinesia, Lactic acidosis, Failure to thrive, Increased serum lactate OMIM:614924
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Increased serum lactate, Lactic acidosis, Renal Fanconi syndrome, Glycosuria, Failure to thrive OMIM:220110
3-Hydroxy-3-Methylglutaric Aciduria
Nonketotic hypoglycemia, Increased serum lactate, Weight loss, Metabolic acidosis, Recurrent hypo... ORPHA:20
Cantu Syndrome
Bicuspid aortic valve, Broad hallux, Short hallux, Cardiomegaly, Short neck, Pericardial effusion... OMIM:239850
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Small for gestational age, Overweight, Obesity, Metabolic acidosis, Lethargy, Hypoketotic hypogly... ORPHA:26793
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Methylmalonic acidemia, Metabolic acidosis, Decreased methylmalonyl-CoA mutase activity, Failure ... OMIM:277400
19Q13.11 Microdeletion Syndrome
Growth delay, Intrauterine growth retardation, Failure to thrive, Cachexia ORPHA:217346
Glycogen Storage Disease Iii
Short stature, Hypoglycemia OMIM:232400
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Lethargy, Failure to thrive OMIM:238970
Combined Oxidative Phosphorylation Defect Type 23
Lactic acidosis, Failure to thrive ORPHA:444013
Mitochondrial Complex I Deficiency, Nuclear Type 18
Lactic acidosis OMIM:618240
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Lactic acidosis, Failure to thrive, Large for gestational age OMIM:614520
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Growth delay, Lactic acidosis, Failure to thrive, Hypoglycemia OMIM:251880
Donohue Syndrome
Postnatal growth retardation, Adipose tissue loss, Hyperinsulinemia, Fasting hypoglycemia, Severe... OMIM:246200
Perry Syndrome
Weight loss, Apathy, Depression ORPHA:178509
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia ORPHA:2774
Cronkhite-Canada Syndrome
Cachexia ORPHA:2930
Hyperglycinemia, Lactic Acidosis, And Seizures
Growth delay, Lactic acidosis, Increased serum lactate OMIM:614462
2,4-Dienoyl-Coa Reductase Deficiency
Increased serum lactate, Intrauterine growth retardation, Failure to thrive, Metabolic acidosis OMIM:616034
Pyruvate Dehydrogenase E2 Deficiency
Lactic acidosis OMIM:245348
Pyruvate Dehydrogenase Deficiency
Growth delay, Intrauterine growth retardation, Multiple lipomas, Lethargy ORPHA:765
Huntington Disease-Like 2
Weight loss ORPHA:98934
Glycogen Storage Disease Ixb
Growth delay, Short stature, Hypoglycemia OMIM:261750
Fanconi-Bickel Syndrome
Diabetes mellitus, Impaired glucose tolerance, Growth delay, Renal tubular acidosis, Metabolic ac... ORPHA:2088
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Increased serum lactate, Severe lactic acidosis, Obesity OMIM:615418
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To
Metabolic acidosis OMIM:231900
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Severe lactic acidosis ORPHA:254864
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Lethargy, Episodic metabolic acidosis, Failure to thrive OMIM:201470
Monocarboxylate Transporter 1 Deficiency
Ketoacidosis, Ketotic hypoglycemia OMIM:616095
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Lactic acidosis, Failure to thrive, Renal Fanconi syndrome, Glycosuria ORPHA:436271
Benign Samaritan Congenital Myopathy
Lethargy ORPHA:324581
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Lethargy, Failure to thrive ORPHA:927
Holocarboxylase Synthetase Deficiency
Lactic acidosis, Lethargy, Metabolic acidosis OMIM:253270
Mitochondrial Phosphate Carrier Deficiency
Metabolic acidosis, Lactic acidosis OMIM:610773
Mitochondrial Complex I Deficiency, Nuclear Type 20
Lactic acidosis, Hypoglycemia OMIM:611126
Cholera
Lactic acidosis, Lethargy, Acidosis, Hypoglycemia ORPHA:173
Fructose Intolerance, Hereditary
Hypoglycemia, Proximal renal tubular acidosis, Lactic acidosis, Metabolic acidosis, Glycosuria, L... OMIM:229600
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Leukoencephalopathy With Vanishing White Matter 1
Lethargy OMIM:603896
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Congenital Disorder Of Glycosylation, Type Ig
Small for gestational age, Rhizomelia, Hypoglycemia, Lethargy, Failure to thrive OMIM:607143
Hemochromatosis, Type 2A
Lethargy OMIM:602390
8Q24.3 Microdeletion Syndrome
Branchial cyst, Micromelia, Short neck, Finger clinodactyly, Clinodactyly of the 5th finger, Atri... ORPHA:508488
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Growth delay, Lethargy ORPHA:289916
Desmoplastic Small Round Cell Tumor
Cachexia, Weight loss ORPHA:83469
Mitochondrial Complex I Deficiency, Nuclear Type 1
Elevated lactate:pyruvate ratio, Hypoglycemia, Growth delay, Lactic acidosis, Severe lactic acido... OMIM:252010
Leigh Syndrome
Hypoglycemia, Increased serum lactate, Ketoacidosis, Growth delay, Renal tubular acidosis, Lactic... ORPHA:506
Melas
Diabetes mellitus, Bipolar affective disorder, Short stature, Increased serum lactate, Depression... ORPHA:550
Pseudo-Torch Syndrome 2
Lactic acidosis, Lethargy OMIM:617397
D-Glyceric Aciduria
Growth delay, Failure to thrive, Hypoglycemia, Metabolic acidosis OMIM:220120
X-Linked Creatine Transporter Deficiency
Short stature, Cachexia ORPHA:52503
Central Neurocytoma
Lethargy, Depression ORPHA:73256
Glutaric Acidemia I
Metabolic acidosis, Elevated circulating glutaric acid concentration, Failure to thrive, Hypoglyc... OMIM:231670
Laryngotracheoesophageal Cleft Type 4
Cachexia ORPHA:93941
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Weight loss, Apathy, Lethargy, Hyperglycemia ORPHA:465508
Pearson Marrow-Pancreas Syndrome
Small for gestational age, Lactic acidosis, Metabolic acidosis, Renal Fanconi syndrome, Type I di... OMIM:557000
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Metabolic acidosis, Short stature OMIM:611555
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Renal tubular acidosis, Stress/infection-induced lactic acidosis, Failure to thrive ORPHA:431361
Glycogen Storage Disease Ia
Short stature, Hypoglycemia, Growth delay, Lactic acidosis, Fasting hypoglycemia, Delayed puberty OMIM:232200
3-Methylglutaconic Aciduria, Type I
Metabolic acidosis, Failure to thrive OMIM:250950
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Small for gestational age, Short stature, Growth delay, Recurrent hypoglycemia, Delayed puberty, ... OMIM:616817
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula, Short stature, Osteolytic defects of the distal phalanges of t... ORPHA:50815
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia OMIM:618158
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Metabolic acidosis, Apathy, Hypoglycemia OMIM:246450
Whipple Disease
Insulin resistance, Cachexia, Depression ORPHA:3452
Fryns-Smeets-Thiry Syndrome
Short stature, Cachexia ORPHA:2058
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Failure to thrive, Hypoglycemia, Hypoketotic hypoglycemia ORPHA:5
Juvenile Huntington Disease
Bradykinesia, Weight loss, Depression ORPHA:248111
Silver-Russell Syndrome Due To A Point Mutation
Postnatal growth retardation, Intrauterine growth retardation, Small for gestational age, Hypogly... ORPHA:397590
Galactokinase Deficiency
Failure to thrive, Small for gestational age, Hyperinsulinemia, Hypoglycemia ORPHA:79237
Lactase Deficiency, Congenital
Metabolic acidosis OMIM:223000
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Short stature, Hypoglycemia ORPHA:364
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Increased serum lactate, Metabolic acidosis OMIM:617290
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Short stature, Hypoglycemia, Growth delay, Lactic acidosis, Recurrent hypoglycemia, Metabolic aci... OMIM:256810
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Short stature, Elevated circulating creatine kinase concentration, Centrally nucleated skeletal m... OMIM:619518
Wars2-Related Combined Oxidative Phosphorylation Defect
Lactic acidosis, Intrauterine growth retardation, Increased serum lactate, Neonatal hypoglycemia ORPHA:572798
Silver-Russell Syndrome 2
Intrauterine growth retardation, Short stature, Neonatal hypoglycemia OMIM:618905
Rett Syndrome
Short stature, Cachexia OMIM:312750
Majeed Syndrome
Failure to thrive, Cachexia, Weight loss ORPHA:77297
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Increased serum lactate, Lactic acidosis, Glucose intolerance, Glycosuria, Failure to thrive OMIM:616539
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Multiple Acyl-Coa Dehydrogenase Deficiency
Lactic acidosis, Hypoglycemia, Metabolic acidosis ORPHA:26791
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Fatty replacement of skeletal muscle, Myopathy, Increased variability in muscle fiber diameter, E... ORPHA:397744
Hemochromatosis, Neonatal
Intrauterine growth retardation, Hypoglycemia OMIM:231100
Crigler-Najjar Syndrome
Lethargy ORPHA:205
Erythrokeratodermia Variabilis
Diabetes mellitus, Short stature, Weight loss ORPHA:317
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Lactic acidosis, Increased serum lactate, Hypoglycemia, Metabolic acidosis OMIM:616878
Mitochondrial Trifunctional Protein Deficiency 2
Neonatal death, Increased serum lactate, Hypoglycemia, Metabolic acidosis OMIM:620300
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy, Hypoglycemia, Neonatal hypoglycemia OMIM:212138
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Methylmalonic acidemia, Small for gestational age, Short stature, Lethargy, Failure to thrive OMIM:277380
Isaacs Syndrome
Weight loss ORPHA:84142
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Lactic acidosis, Increased serum lactate, Hypoglycemia, Hypoglycemic seizures ORPHA:480864
Cerebrooculofacioskeletal Syndrome 1
Metabolic acidosis, Insulin resistance, Failure to thrive, Small for gestational age OMIM:214150
Idiopathic Congenital Hypothyroidism
Lethargy ORPHA:95717
Hyperphenylalaninemia, Bh4-Deficient, B
Lethargy OMIM:233910
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Natal tooth, Broad hallux, Facial palsy, Polyhydramnios, Short stature, Optic dis... OMIM:620186
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabe... ORPHA:2298
Pituitary Stalk Interruption Syndrome
Failure to thrive, Short stature, Hypoglycemia, Delayed puberty ORPHA:95496
Malignant Hyperthermia, Susceptibility To, 2
Lactic acidosis OMIM:154275
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Increased serum lactate, Failure to thrive, Metabolic acidosis ORPHA:88639
Laryngeal Neuroendocrine Tumor
Weight loss ORPHA:100083
Combined Oxidative Phosphorylation Deficiency 3
Elevated lactate:pyruvate ratio, Increased serum lactate, Lactic acidosis, Apathy, Severe lactic ... OMIM:610505
Susac Syndrome
Lethargy, Apathy ORPHA:838
Combined Oxidative Phosphorylation Deficiency 33
Lactic acidosis, Intrauterine growth retardation, Increased serum lactate OMIM:617713
Malignant Hyperthermia, Susceptibility To, 3
Lactic acidosis OMIM:154276
Resistance To Thyrotropin-Releasing Hormone Syndrome
Growth delay, Lethargy, Overweight, Depression ORPHA:99832
Propionic Acidemia
Hypoglycemia ORPHA:35
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia ORPHA:79159
Fanconi-Bickel Syndrome
Reduced subcutaneous adipose tissue, Postnatal growth retardation, Acidosis, Chronic acidosis, Fa... OMIM:227810
Treacher-Collins Syndrome
Encephalocele, Branchial fistula, Cryptorchidism, Patent ductus arteriosus, Iris coloboma ORPHA:861
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Lactic acidosis, Slender build, Cachexia, Weight loss OMIM:603041
Mitochondrial Complex I Deficiency, Nuclear Type 26
Elevated lactate:pyruvate ratio, Increased serum lactate, Metabolic acidosis OMIM:618247
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Bannayan-Riley-Ruvalcaba Syndrome
Lipoma, Short stature, Cachexia, Hypoglycemia ORPHA:109
X-Linked Intellectual Disability, Cabezas Type
Short stature, Obesity, Cachexia ORPHA:85293
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula, Facial palsy OMIM:113650
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Edema, Cardiomegaly, Polyhydramnios, Abnormal cerebral vascular morphology... ORPHA:363705
Hereditary Fructose Intolerance
Growth delay, Lethargy, Metabolic acidosis, Reactive hypoglycemia ORPHA:469
Combined Oxidative Phosphorylation Deficiency 14
Growth delay, Lactic acidosis, Increased serum lactate OMIM:614946
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Developmental And Epileptic Encephalopathy 41
Lethargy OMIM:617105
Primary Myelofibrosis
Cachexia ORPHA:824
Late-Onset Isolated Acth Deficiency
Hypoglycemia, Weight loss, Type I diabetes mellitus, Lethargy, Failure to thrive ORPHA:199299
Mitochondrial Trifunctional Protein Deficiency
Lethargy, Failure to thrive in infancy, Hypoketotic hypoglycemia ORPHA:746
Methylmalonyl-Coa Epimerase Deficiency
Metabolic acidosis, Failure to thrive OMIM:251120
Methylmalonic Acidemia With Homocystinuria Type Cblf
Growth delay, Intrauterine growth retardation, Failure to thrive, Lethargy ORPHA:79284
Liver Failure, Infantile, Transient
Lactic acidosis, Increased serum lactate OMIM:613070
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Lethargy, Failure to thrive, Short stature OMIM:201100
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Lethargy OMIM:201475
Solitary Fibrous Tumor
Recurrent hypoglycemia, Hypoglycemia, Hypoinsulinemia, Weight loss ORPHA:2126
Fanconi Renotubular Syndrome 3
Growth delay, Short stature, Metabolic acidosis, Glycosuria OMIM:615605
Generalized Pseudohypoaldosteronism Type 1
Metabolic acidosis, Failure to thrive in infancy, Proportionate short stature, Weight loss ORPHA:171876
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Galactosemia I
Metabolic acidosis, Failure to thrive, Hyperchloremic metabolic acidosis OMIM:230400
Histiocytoid Cardiomyopathy
Lactic acidosis, Lethargy, Failure to thrive, Hypoglycemia ORPHA:137675
Infantile Krabbe Disease
Failure to thrive, Cachexia ORPHA:206436
Silver-Russell Syndrome 1
Intrauterine growth retardation, Small for gestational age, Fasting hypoglycemia OMIM:180860
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Small for gestational age, Hypoglycemia, Postnatal growth retardation, Intrauterine growth retard... OMIM:617093
Citrullinemia, Classic
Lethargy, Respiratory alkalosis, Failure to thrive OMIM:215700
Lactic Acidosis, Chronic Adult Form
Chronic lactic acidosis OMIM:150170
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Intrauterine growth retardation, Hypoglycemia, Severe lactic acidosis OMIM:619355
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Type II diabetes mellitus, Hypoglycemia, Hypoinsulinemia ORPHA:453533
Juvenile Amyotrophic Lateral Sclerosis
Cachexia ORPHA:300605
Cog8-Cdg
Failure to thrive, Hypoglycemia ORPHA:95428
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Neonatal death, Lactic acidosis OMIM:619167
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia OMIM:175500
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy, Fasting hypoglycemia, Hypoketotic hypoglycemia ORPHA:159
Bor Syndrome
Branchial cyst, Facial palsy ORPHA:107
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Increased serum lactate, Intrauterine growth retardation, Hypoglycemia OMIM:620275
Smith-Kingsmore Syndrome
Rhizomelia, Hypoglycemia, Large for gestational age OMIM:616638
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Lactic acidosis, Failure to thrive, Increased serum lactate OMIM:620358
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Hypoglycemia, Growth delay, Metabolic acidosis, Intrauterine growth retar... ORPHA:79282
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Nonketotic hypoglycemia, Lethargy, Decreased serum bicarbonate concentration, Hypoglycemia OMIM:608836
Autosomal Dominant Progressive External Ophthalmoplegia
Bipolar affective disorder, Diabetes mellitus, Increased serum lactate, Depression, Bradykinesia,... ORPHA:254892
Multifocal Atrial Tachycardia
Lethargy ORPHA:3282
Branchiootic Syndrome
Branchial fistula, Facial palsy ORPHA:52429
Ogden Syndrome
Postnatal growth retardation, Lethargy ORPHA:276432
Multiple Acyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Glycosuria, Neonatal death, Elevated circulating glutaric acid concentration, Acidosis OMIM:231680
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Intrauterine growth retardation, Failure to thrive, Hypoglycemia, Lethargy OMIM:617156
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Type I diabetes mellitus, Short stature, Hypoglycemia OMIM:616113
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss ORPHA:86893
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Failure to thrive, Hypoglycemia OMIM:614736
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Metabolic acidosis, Renal tubular acidosis, Failure to thrive, Glycosuria OMIM:613404
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Mild postnatal growth retardation, Lymphedema, Periorbital edema, Cutaneous finger syndactyly, Hy... OMIM:235510
Myopathy With Lactic Acidosis, Hereditary
Lactic acidosis, Increased serum lactate OMIM:255125
Vitamin B12-Unresponsive Methylmalonic Acidemia
Lethargy ORPHA:27
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss ORPHA:2198
Glucocorticoid Deficiency 1
Recurrent hypoglycemia, Failure to thrive OMIM:202200
Seckel Syndrome
Intrauterine growth retardation, Short stature, Cachexia ORPHA:808
Typhoid
Lethargy ORPHA:99745
Ornithine Transcarbamylase Deficiency
Hypoglycemia ORPHA:664
Citrullinemia Type Ii
Lethargy, Delayed menarche, Decreased body mass index, Mania ORPHA:247585
Glucocorticoid Resistance, Generalized
Metabolic alkalosis, Hypoglycemia OMIM:615962
Nijmegen Breakage Syndrome
Abnormality of chromosome stability, Short stature, Cachexia ORPHA:647
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Metabolic acidosis, Failure to thrive OMIM:264350
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Lethargy, Respiratory alkalosis, Failure to thrive OMIM:311250
Huntington Disease
Weight loss, Bradykinesia, Depression, Apathy, Decreased body mass index ORPHA:399
Sim1-Related Prader-Willi-Like Syndrome
Obesity, Abdominal obesity, Type II diabetes mellitus, Lethargy, Failure to thrive ORPHA:398079
Pearson Syndrome
Elevated lactate:pyruvate ratio, Diabetes mellitus, Small for gestational age, Postnatal growth r... ORPHA:699
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Obesity, Reactive hypoglycemia OMIM:600955
Glycogen Storage Disease Ib
Lactic acidosis, Short stature, Hypoglycemia, Delayed puberty OMIM:232220
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Lactic acidosis, Increased serum lactate OMIM:617186
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Prominent fingertip pads, Branchial anomaly, Brachydactyly, Short palm ORPHA:466950
Hirschsprung Disease
Short stature, Failure to thrive in infancy, Weight loss ORPHA:388
Congenital Short Bowel Syndrome
Metabolic acidosis, Failure to thrive OMIM:615237
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Post-Traumatic Pituitary Deficiency
Growth delay, Hypoglycemia, Delayed puberty ORPHA:95619
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Neonatal hypoglycemia, Large for gestation... ORPHA:79644
Sulfite Oxidase Deficiency, Isolated
Metabolic acidosis OMIM:272300
Evans Syndrome
Lethargy ORPHA:1959
Magel2-Related Prader-Willi-Like Syndrome
Short stature, Increased body weight, Abdominal obesity, Type II diabetes mellitus, Lethargy, Fai... ORPHA:398069
Houge-Janssens Syndrome 1
Intrauterine growth retardation, Hypoglycemia OMIM:616355
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Short stature, Hypoglycemia, Hypoglycemic seizures, Growth delay, Lactic acidosis, Delayed pubert... ORPHA:79259
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Short stature, Fasting hypoglycemia ORPHA:436174
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Lactic acidosis, Increased serum lactate OMIM:251900
Perry Syndrome
Bradykinesia, Weight loss, Apathy, Depression OMIM:168605
Inflammatory Bowel Disease (Crohn Disease) 1
Growth delay, Weight loss OMIM:266600
Coenzyme Q10 Deficiency, Primary, 1
Lactic acidosis OMIM:607426
Familial Thyroid Dyshormonogenesis
Lethargy ORPHA:95716
Cholestasis, Progressive Familial Intrahepatic, 5
Failure to thrive, Hypoglycemia OMIM:617049
Methanol Poisoning
Type I diabetes mellitus, Metabolic acidosis, Type II diabetes mellitus ORPHA:31825
Argininosuccinic Aciduria
Lethargy, Respiratory alkalosis, Failure to thrive OMIM:207900
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypoglycemia, Severe intrauterine growth ... OMIM:609069
Bachmann-Bupp Syndrome
Hypoglycemia, Large for gestational age OMIM:619075
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Short stature, Cachexia ORPHA:220295
Trisomy 18
Growth delay, Intrauterine growth retardation, Short stature, Cachexia ORPHA:3380
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Metabolic acidosis OMIM:602199
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Intrauterine growth retardation, Failure to thrive, Short stature, Hypoglycemia OMIM:618005
Histidinuria-Renal Tubular Defect Syndrome
Hypoglycemia ORPHA:2158
Reticular Dysgenesis
Failure to thrive, Weight loss ORPHA:33355
Staphylococcal Necrotizing Pneumonia
Lethargy, Diabetes mellitus ORPHA:36238
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Metabolic acidosis, Failure to thrive OMIM:177735
Huntington Disease-Like 1
Bradykinesia, Weight loss, Depression ORPHA:157941
Diarrhea 12, With Microvillus Atrophy
Metabolic acidosis OMIM:619445
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia ORPHA:3217
Transcobalamin Ii Deficiency
Lethargy, Failure to thrive OMIM:275350
Isolated Thyroid-Stimulating Hormone Deficiency
Growth delay, Lethargy, Failure to thrive, Depression ORPHA:90674
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Growth delay, Abnormal mitochondrial shape ORPHA:485421
Glycogen Storage Disease Ic
Lactic acidosis, Hypoglycemia, Metabolic acidosis, Delayed puberty OMIM:232240
Lysosomal Acid Lipase Deficiency
Acidosis, Failure to thrive, Cachexia, Weight loss ORPHA:275761
Intellectual Developmental Disorder, Autosomal Dominant 45
Slender build, Neonatal hypoglycemia OMIM:617600
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Type I diabetes mellitus, Failure to thrive in infancy, Cachexia ORPHA:37042
Cardiomyopathy, Familial Hypertrophic, 4
First degree atrioventricular block, Cardiomegaly, Right atrial enlargement, Atrioventricular blo... OMIM:115197
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Increased serum lactate, Metabolic acidosis, Methylmalonic acidemia OMIM:614105
Bullous Pemphigoid
Diabetes mellitus, Weight loss ORPHA:703
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Small for gestational age, Hypoglycemia, Increased serum lactate, Lactic acidosis, Severe lactic ... OMIM:220111
Primary Fanconi Renotubular Syndrome
Hypoglycemia, Bicarbonate-wasting renal tubular acidosis, Proximal renal tubular acidosis, Weight... ORPHA:3337
Dystonia-Aphonia Syndrome
Macroglossia, Abnormal mitochondrial shape ORPHA:412217
Mu-Heavy Chain Disease
Weight loss ORPHA:100024
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Short stature, Cachexia ORPHA:1969
Neurodegeneration And Seizures Due To Copper Transport Defect
Increased serum lactate, Lethargy OMIM:620306
Witteveen-Kolk Syndrome
Congenital diaphragmatic hernia, Proximal placement of thumb, Polyhydramnios, Intracranial hemorr... OMIM:613406
Mirage Syndrome
Intrauterine growth retardation, Short stature, Hypoglycemia, Decreased body weight OMIM:617053
Oculopharyngodistal Myopathy
Weight loss ORPHA:98897
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Increased serum lactate, Lethargy OMIM:618321
Rabson-Mendenhall Syndrome
Reduced subcutaneous adipose tissue, Short stature, Impaired glucose tolerance, Insulin resistanc... ORPHA:769
Interstitial Lung And Liver Disease
Lactic acidosis, Failure to thrive OMIM:615486
Isolated Succinate-Coq Reductase Deficiency
Intrauterine growth retardation, Severe short stature, Proportionate short stature, Weight loss ORPHA:3208
Glycogen Storage Disease Ixd
Hypoglycemia OMIM:300559
Congenital Disorder Of Glycosylation, Type Iie
Short stature, Hypoglycemia, Growth delay, Intrauterine growth retardation, Failure to thrive OMIM:608779
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Growth delay, Hypoglycemic seizures, Hypoketotic hypoglycemia OMIM:231530
Bone Dysplasia, Lethal Holmgren Type
Severe short-limb dwarfism, Failure to thrive, Rhizomelia, Weight loss ORPHA:1842
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Failure to thrive in infancy, Hypoglycemia, Increased serum lactate, Growth delay, Failure to thr... OMIM:619418
Colchicine Poisoning
Lactic acidosis, Abnormality of acid-base homeostasis, Metabolic acidosis ORPHA:31824
Acute Adrenal Insufficiency
Hypoglycemia, Weight loss, Hyperkalemic metabolic acidosis, Delayed puberty, Failure to thrive ORPHA:95409
Meningococcal Meningitis
Lethargy ORPHA:33475
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Metabolic acidosis, Renal tubular acidosis, Failure to thrive, Small for gestational age OMIM:208085
Attrv30M Amyloidosis
Weight loss ORPHA:85447
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypoglycemia OMIM:201910
Hypoadrenocorticism, Familial
Hypoglycemia OMIM:240200
Dilated Cardiomyopathy With Ataxia
Elevated circulating glutaric acid concentration, Increased serum lactate, Growth delay, Intraute... ORPHA:66634
Pituitary Hormone Deficiency, Combined, 2
Neonatal hypoglycemia, Short stature, Hypoglycemic seizures OMIM:262600
Biotinidase Deficiency
Lethargy, Metabolic ketoacidosis OMIM:253260
Follicular Lymphoma
Weight loss ORPHA:545
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Growth delay, Lactic acidosis OMIM:616084
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism, Short stature ORPHA:31
Ethylene Glycol Poisoning
Lactic acidosis, Elevated serum anion gap, Metabolic acidosis ORPHA:31826
Serotonin Syndrome
Lactic acidosis ORPHA:43116
Scrub Typhus
Lethargy ORPHA:83317
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Lethargy, Failure to thrive ORPHA:395
Schwartz-Jampel Syndrome
Short stature, Cachexia, Decreased body weight ORPHA:800
Dengue Fever
Lethargy ORPHA:99828
Kabuki Syndrome 2
Short stature, Postnatal growth retardation, Decreased body weight, Intrauterine growth retardati... OMIM:300867
Pleural Mesothelioma
Weight loss ORPHA:50251
Peroxisome Biogenesis Disorder 5A (Zellweger)
Intrauterine growth retardation, Failure to thrive, Small for gestational age, Lethargy OMIM:614866
Celiac Disease, Susceptibility To, 1
Short stature, Postnatal growth retardation, Depression, Weight loss, Delayed puberty, Type I dia... OMIM:212750
Shashi-Pena Syndrome
Intrauterine growth retardation, Hypoglycemia OMIM:617190
Focal Myositis
Weight loss ORPHA:48918
Combined Oxidative Phosphorylation Defect Type 39
Increased serum lactate, Intrauterine growth retardation, Neonatal hypoglycemia ORPHA:565624
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Lethargy, Respiratory alkalosis, Failure to thrive ORPHA:415
Mast Cell Sarcoma
Weight loss ORPHA:66661
Craniofacial Microsomia 1
Occipital encephalocele, Ventricular septal defect, Hypoplasia of facial musculature, Patent duct... OMIM:164210
Hawkinsinuria
Metabolic acidosis, Failure to thrive OMIM:140350
Cockayne Syndrome
Reduced subcutaneous adipose tissue, Severe short stature, Diabetes mellitus, Cachexia, Postnatal... ORPHA:191
Pituitary Hormone Deficiency, Combined, 6
Short stature, Neonatal hypoglycemia, Hypoglycemia OMIM:613986
Branchiooculofacial Syndrome
Facial palsy, Proximal placement of thumb, Short neck, Postnatal growth retardation, Cryptorchidi... OMIM:113620
Juvenile Polyposis Of Infancy
Subcutaneous lipoma, Short stature, Cachexia ORPHA:79076
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Lethargy, Failure to thrive OMIM:620233
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Abnormal mitochondrial shape ORPHA:543470
Tyrosinemia, Type I
Hypoglycemia, Growth delay, Metabolic acidosis, Renal Fanconi syndrome, Failure to thrive OMIM:276700
3-Methylglutaconic Aciduria, Type Viib
Rhizomelia, Increased serum lactate, Growth delay, Intrauterine growth retardation, Neonatal hypo... OMIM:616271
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Small for gestational age, Postnatal growth retardation, Insulin resistance, Severe intrauterine ... ORPHA:96182
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Lethargy OMIM:607483
Pfapa Syndrome
Weight loss ORPHA:42642
3-Methylglutaconic Aciduria Type 7
Growth delay, Increased serum lactate, Neonatal hypoglycemia ORPHA:445038
Allergic Bronchopulmonary Aspergillosis
Weight loss ORPHA:1164
Short Syndrome
Diabetes mellitus, Severe short stature, Lipodystrophy, Insulin resistance, Weight loss ORPHA:3163
Pseudohypoaldosteronism, Type Iic
Metabolic acidosis, Decreased serum bicarbonate concentration, Hyperchloremic metabolic acidosis OMIM:614492
Fanconi Renotubular Syndrome 1
Metabolic acidosis, Short stature, Glycosuria OMIM:134600
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Cardiac-Urogenital Syndrome
Congenital diaphragmatic hernia, Patent urachus, Scimitar anomaly, Atrial septal defect, Mesocard... OMIM:618280
Timothy Syndrome
Hypoglycemia OMIM:601005
Posterior Urethral Valve
Postnatal growth retardation, Lethargy ORPHA:93110
Familial Glucocorticoid Deficiency
Failure to thrive, Ketotic hypoglycemia, Hypoglycemic seizures, Weight loss ORPHA:361
Adult Acute Respiratory Distress Syndrome
Metabolic acidosis, Diabetic ketoacidosis ORPHA:70578
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Pituitary dwarfism, Hypoglycemia, Overweight, Growth delay, Lethargy ORPHA:226307
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Neonatal hypoglycemia, Large for gestational age ORPHA:457485
Pseudomyxoma Peritonei
Weight loss ORPHA:26790
Addison Disease
Hypoglycemia, Weight loss, Hyperkalemic metabolic acidosis, Delayed puberty, Type I diabetes mell... ORPHA:85138
Wilson Disease
Weight loss, Failure to thrive, Increased body weight, Depression ORPHA:905
Aica-Ribosuria Due To Atic Deficiency
Hypoglycemia OMIM:608688
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Lactic acidosis, Intrauterine growth retardation, Failure to thrive in infancy ORPHA:247598
Glycine Encephalopathy
Lethargy, Respiratory acidosis ORPHA:407
Basilicata-Akhtar Syndrome
Neonatal hypoglycemia OMIM:301032
Biotinidase Deficiency
Lethargy, Metabolic ketoacidosis ORPHA:79241
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased serum lactate, Metabolic acidosis OMIM:618528
Mitochondrial Complex I Deficiency, Nuclear Type 32
Increased serum lactate, Failure to thrive, Small for gestational age, Metabolic acidosis OMIM:618252
Oromandibular Dystonia
Weight loss, Depression ORPHA:93958
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... OMIM:617300
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Obesity, Neonatal hypoglycemia OMIM:608624
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,... OMIM:261740
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Increased serum lactate, Metabolic acidosis OMIM:619053
Leprechaunism
Reduced subcutaneous adipose tissue, Postnatal growth retardation, Insulin resistance, Hyperinsul... ORPHA:508
Complete Atrioventricular Septal Defect
Lethargy, Failure to thrive ORPHA:1329
Glucocorticoid Deficiency 2
Recurrent hypoglycemia OMIM:607398
Sudden Cardiac Failure, Infantile
Metabolic acidosis OMIM:617222
Marburg Hemorrhagic Fever
Lactic acidosis, Lethargy, Abnormality of acid-base homeostasis, Hypoglycemia ORPHA:99826
3-Methylglutaconic Aciduria, Type Viii
Increased serum lactate, Growth delay, Neonatal death, Failure to thrive, Neonatal hypoglycemia OMIM:617248
Reni Syndrome
Hypoglycemia OMIM:617575
Camurati-Engelmann Disease
Abnormal subcutaneous fat tissue distribution, Slender build, Cachexia, Delayed puberty ORPHA:1328
Pseudohypoaldosteronism, Type Iie
Metabolic acidosis, Hyperchloremic metabolic acidosis OMIM:614496
X-Linked Dominant Chondrodysplasia Punctata
Severe postnatal growth retardation, Short stature, Neonatal hypoglycemia ORPHA:35173
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
D-Glyceric Aciduria
Metabolic acidosis ORPHA:941
Rhabdoid Tumor
Weight loss ORPHA:69077
X-Linked Agammaglobulinemia
Failure to thrive, Short stature, Weight loss ORPHA:47
Congenital Disorder Of Glycosylation, Type Im
Failure to thrive, Hypoketotic hypoglycemia OMIM:610768
Hydroxykynureninuria
Metabolic acidosis, Renal tubular acidosis ORPHA:79155
Aromatic L-Amino Acid Decarboxylase Deficiency
Lethargy OMIM:608643
Congenital Disorder Of Glycosylation, Type It
Growth delay, Short stature, Hypoglycemia, Delayed puberty OMIM:614921
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Graves Disease, Susceptibility To, 1
Weight loss OMIM:275000
Immunodeficiency, Common Variable, 10
Hypoglycemia OMIM:615577
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Polyhydramnios, Pericardial effusion, Cryptorchidism, Hematoc... OMIM:618183
Sotos Syndrome
Glucose intolerance, Increased body weight, Neonatal hypoglycemia OMIM:117550
Microsporidiosis
Cachexia, Weight loss ORPHA:2552
Congenital Isolated Acth Deficiency
Neonatal hypoglycemia, Hypoglycemic seizures ORPHA:199296
Cirrhosis, Familial
Lethargy OMIM:215600
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Growth delay, Short stature, Hypoglycemia OMIM:616007
Immunodeficiency 27A
Weight loss OMIM:209950
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Small for gestational age, Hypoglycemia OMIM:614501
Encephalitis Lethargica
Lethargy ORPHA:83600
Acquired Hypertrichosis Lanuginosa
Weight loss ORPHA:2221
Hydranencephaly
Postnatal growth retardation, Intrauterine growth retardation, Lethargy ORPHA:2177
Liposarcoma
Weight loss ORPHA:69078
Osteosarcoma
Weight loss ORPHA:668
Gerstmann-Straussler Disease
Bradykinesia, Weight loss, Depression OMIM:137440
Thymic Carcinoma
Weight loss ORPHA:99868
Ebola Hemorrhagic Fever
Lethargy ORPHA:319218
Takayasu Arteritis
Weight loss ORPHA:3287
Cap Polyposis
Weight loss ORPHA:160148
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Growth delay, Failure to thrive, Metabolic acidosis OMIM:615895
Genetic Transient Congenital Hypothyroidism
Lethargy ORPHA:226316
Alobar Holoprosencephaly
Short stature, Depression, Growth delay, Apathy, Lethargy, Failure to thrive ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Short stature, Depression, Growth delay, Apathy, Lethargy, Failure to thrive ORPHA:93926
Lobar Holoprosencephaly
Short stature, Depression, Growth delay, Apathy, Lethargy, Failure to thrive ORPHA:93924
Semilobar Holoprosencephaly
Short stature, Depression, Growth delay, Apathy, Lethargy, Failure to thrive ORPHA:220386
Classic Hodgkin Lymphoma
Weight loss ORPHA:391
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Metabolic acidosis OMIM:620126
Inflammatory Pseudotumor Of The Liver
Diabetes mellitus, Weight loss ORPHA:90003
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Short stature, Overweight, Metabolic acidosis, Renal tubular acidosis, Failure to thrive OMIM:619575
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Metabolic acidosis OMIM:620125
Acth Deficiency, Isolated
Fasting hypoglycemia OMIM:201400
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Hypoglycemia ORPHA:457279
Peritoneal Cystic Mesothelioma
Weight loss ORPHA:168816
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Failure to thrive, Hypoglycemia ORPHA:90790
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Growth delay, Cachexia, Delayed puberty ORPHA:2072
Benign Recurrent Intrahepatic Cholestasis
Weight loss ORPHA:65682
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Metabolic acidosis OMIM:620152
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Congenital Tricuspid Valve Dysplasia
Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, A... ORPHA:555874
Non-Functioning Paraganglioma
Weight loss ORPHA:94080
Malignant Peritoneal Mesothelioma
Weight loss ORPHA:168811
Alg12-Cdg
Intrauterine growth retardation, Recurrent hypoglycemia, Failure to thrive, Abnormal adipose tiss... ORPHA:79324
Adenine Phosphoribosyltransferase Deficiency
Metabolic acidosis OMIM:614723
Eosinophilic Fasciitis
Weight loss ORPHA:3165
Chronic Beryllium Disease
Weight loss ORPHA:133
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hyperinsulinemia, Hypoglycemia ORPHA:230
Sepsis In Premature Infants
Metabolic acidosis, Small for gestational age, Decreased body weight ORPHA:90051
Cystinosis, Nephropathic
Diabetes mellitus, Short stature, Failure to thrive in infancy, Weight loss, Growth delay, Glycos... OMIM:219800
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss OMIM:188580
Rajab Interstitial Lung Disease With Brain Calcifications 1
Short stature, Small for gestational age, Hypoglycemia, Growth delay, Intrauterine growth retarda... OMIM:613658
Kaposi Sarcoma
Weight loss ORPHA:33276
Secondary Short Bowel Syndrome
Growth delay, Failure to thrive, Weight loss ORPHA:95427
Trichinellosis
Lethargy, Apathy ORPHA:863
Marfan Syndrome
Slender build, Cachexia ORPHA:558
Hypothyroidism Due To Tsh Receptor Mutations
Lethargy ORPHA:90673
Leishmaniasis
Weight loss ORPHA:507
Medulloblastoma
Lethargy ORPHA:616
Diamond-Blackfan Anemia
Growth delay, Lethargy, Short stature, Small for gestational age ORPHA:124
Stickler Syndrome
Slender build, Short stature, Cachexia ORPHA:828
Immunodeficiency 59 And Hypoglycemia
Short stature, Hypoglycemia OMIM:233600
Exercise-Induced Malignant Hyperthermia
Lactic acidosis, Lethargy ORPHA:466650
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Panniculitis, Weight loss ORPHA:86884
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Hypoglycemia OMIM:620224
Hereditary Late-Onset Parkinson Disease
Bradykinesia, Weight loss, Apathy, Depression ORPHA:411602
Shigellosis
Failure to thrive in infancy, Hypoglycemia ORPHA:810
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss OMIM:613239
Polyarteritis Nodosa
Weight loss ORPHA:767
8P23.1 Microdeletion Syndrome
Short stature, Obesity, Weight loss, Growth delay, Intrauterine growth retardation ORPHA:251071
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss ORPHA:411703
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Pemphigus Vulgaris
Weight loss ORPHA:704
Deafness-Lymphedema-Leukemia Syndrome
Weight loss ORPHA:3226
Sheehan Syndrome
Hypoglycemia, Obesity ORPHA:91355
Juvenile Nephropathic Cystinosis
Growth delay, Metabolic acidosis, Renal Fanconi syndrome, Glycosuria, Failure to thrive ORPHA:411634
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Failure to thrive, Neonatal hypoglycemia ORPHA:90791
Classic Pantothenate Kinase-Associated Neurodegeneration
Weight loss ORPHA:216866
Infantile Nephropathic Cystinosis
Failure to thrive, Growth delay, Renal Fanconi syndrome, Glycosuria, Acidosis, Hyperchloremic met... ORPHA:411629
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Acidosis, Failure to thrive, Neonatal hypoglycemia, Delayed puberty ORPHA:168558
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Weight loss, Glycosuria, Intrauterine growth retard... ORPHA:99885
Glossopharyngeal Neuralgia
Weight loss, Depression ORPHA:221098
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Acidosis, Failure to thrive, Neonatal hypoglycemia, Delayed puberty ORPHA:289548
Anaplastic Thyroid Carcinoma
Weight loss ORPHA:142
Nephroblastoma
Weight loss ORPHA:654
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Oculodentodigital Dysplasia
Hypoglycemia ORPHA:2710
Gm1 Gangliosidosis
Failure to thrive, Short stature, Weight loss ORPHA:354
Yao Syndrome
Weight loss OMIM:617321
Nodular Non-Suppurative Panniculitis
Panniculitis, Weight loss ORPHA:33577
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hypoglycemia, Obesity OMIM:301066
Homozygous Familial Hypercholesterolemia
Myocardial infarction, Precocious atherosclerosis, Abnormal internal carotid artery morphology, A... ORPHA:391665
Multiple Endocrine Neoplasia Type 1
Lethargy, Weight loss, Multiple lipomas, Depression ORPHA:652
Cryptogenic Organizing Pneumonia
Weight loss ORPHA:1302
Primary Hyperoxaluria Type 1
Metabolic acidosis, Failure to thrive ORPHA:93598
Cerebral Visual Impairment
Neonatal hypoglycemia ORPHA:447788
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hypoketotic hypoglycemia ORPHA:228305
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
Riddle Syndrome
Weight loss, Short stature, Chromosomal breakage induced by ionizing radiation ORPHA:420741
Norrie Disease
Diabetes mellitus, Failure to thrive, Cachexia, Delayed puberty ORPHA:649
Osteopetrosis With Renal Tubular Acidosis
Short stature, Proximal renal tubular acidosis, Metabolic acidosis, Renal tubular acidosis, Dista... ORPHA:2785
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Metabolic acidosis, Hypoketotic hypoglycemia ORPHA:228308
Idiopathic Chronic Eosinophilic Pneumonia
Weight loss ORPHA:2902
Amish Lethal Microcephaly
Metabolic acidosis ORPHA:99742
Pituitary Apoplexy
Hypoglycemia ORPHA:95613
Adrenocortical Carcinoma
Diabetes mellitus, Increased body weight, Weight loss ORPHA:1501
Deeah Syndrome
Intrauterine growth retardation, Short stature, Neonatal hypoglycemia, Decreased body weight OMIM:619004
Amoebiasis Due To Free-Living Amoebae
Lethargy ORPHA:68
Rheumatoid Arthritis
Weight loss OMIM:180300
Perlman Syndrome
Hypoglycemia, Large for gestational age OMIM:267000
Eosinophilic Gastroenteritis
Weight loss ORPHA:2070
Wild Type Attr Amyloidosis
Weight loss ORPHA:330001
Lysinuric Protein Intolerance
Lethargy, Failure to thrive ORPHA:470
Proteus Syndrome
Lipoma, Abnormal subcutaneous fat tissue distribution, Cachexia ORPHA:744
Loeffler Endocarditis
Weight loss ORPHA:75566
Fatal Familial Insomnia
Weight loss OMIM:600072
Beta-Ureidopropionase Deficiency
Increased serum lactate, Metabolic acidosis OMIM:613161
Medullary Thyroid Carcinoma
Weight loss ORPHA:1332
Igg4-Related Aortitis
Weight loss ORPHA:449400
Diffuse Alveolar Hemorrhage
Weight loss ORPHA:90060
Acrodermatitis Enteropathica
Failure to thrive, Short stature, Weight loss ORPHA:37
Nephronophthisis 2
Hyperkalemic metabolic acidosis OMIM:602088
Malignant Hyperthermia, Susceptibility To, 1
Mixed respiratory and metabolic acidosis OMIM:145600
Aicardi-Goutieres Syndrome 9
Intrauterine growth retardation, Failure to thrive, Weight loss OMIM:619487
Congenital Tufting Enteropathy
Failure to thrive, Weight loss ORPHA:92050
Poems Syndrome
Diabetes mellitus, Lipodystrophy, Weight loss ORPHA:2905
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Weight loss OMIM:256700
Hyperaldosteronism, Familial, Type Iii
Metabolic acidosis OMIM:613677
Aggressive Systemic Mastocytosis
Weight loss ORPHA:98850
Tropical Pancreatitis
Insulin-dependent but ketosis-resistant diabetes, Maternal diabetes, Weight loss ORPHA:103918
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Increased serum lactate, Weight loss, Depression OMIM:607459
Ménétrier Disease
Weight loss ORPHA:2494
Acute Liver Failure
Acidosis, Hypoglycemia, Alkalosis, Depression ORPHA:90062
Kufor-Rakeb Syndrome
Bradykinesia, Lethargy, Apathy ORPHA:306674
Bacterial Toxic-Shock Syndrome
Increased serum lactate, Metabolic acidosis ORPHA:36234
Mitochondrial Dna-Associated Leigh Syndrome
Abnormality of Krebs cycle metabolism, Failure to thrive, Increased serum lactate ORPHA:255210
Acute Monoblastic/Monocytic Leukemia
Weight loss ORPHA:514
Giant Cell Arteritis
Weight loss, Depression ORPHA:397
Hypothyroidism, Congenital, Nongoitrous, 2
Growth delay, Lethargy OMIM:218700
Generalized Glucocorticoid Resistance Syndrome
Metabolic alkalosis, Hypoglycemia ORPHA:786
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Weight loss ORPHA:324964
Microvillus Inclusion Disease
Metabolic acidosis ORPHA:2290
Primary Intestinal Lymphangiectasia
Growth delay, Weight loss ORPHA:90362
Felty Syndrome
Weight loss ORPHA:47612
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent hypoglycemia, Failure to thrive ORPHA:293978
Orthostatic Hypotension 1
Neonatal hypoglycemia OMIM:223360
Immunodeficiency 31C
Diabetes mellitus, Short stature, Weight loss, Growth delay, Delayed puberty OMIM:614162
Polymyositis
Weight loss ORPHA:732
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Short stature, Weight loss, Hyperkalemic metabolic acidosis, Failure to thrive, Neonatal hypoglyc... ORPHA:90794
Systemic Capillary Leak Syndrome
Weight loss ORPHA:188
Pneumocystosis
Weight loss ORPHA:723
Multiple Endocrine Neoplasia, Type I
Hypoglycemia, Subcutaneous lipoma OMIM:131100
Proximal Renal Tubular Acidosis
Mild postnatal growth retardation, Short stature, Bicarbonate-wasting renal tubular acidosis, Gro... ORPHA:47159
Refractory Celiac Disease
Weight loss ORPHA:398063
Thymic Neuroendocrine Tumor
Weight loss ORPHA:97289
Lynch Syndrome
Weight loss, Depression ORPHA:144
Menkes Disease
Intrauterine growth retardation, Hypoglycemia ORPHA:565
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Weight loss ORPHA:54251
Proximal Spinal Muscular Atrophy
Metabolic acidosis ORPHA:70
Glutaryl-Coa Dehydrogenase Deficiency
Fasting hypoglycemia ORPHA:25
Familial Colorectal Cancer Type X
Weight loss, Depression ORPHA:440437
Costello Syndrome
Failure to thrive, Short stature, Hypoglycemia OMIM:218040
Imerslund-Gräsbeck Syndrome
Failure to thrive, Weight loss ORPHA:35858
Immunodeficiency 87 And Autoimmunity
Growth delay, Intrauterine growth retardation, Small for gestational age, Metabolic acidosis OMIM:619573
Lymphoid Interstitial Pneumonia
Failure to thrive, Weight loss ORPHA:79128
Acute Promyelocytic Leukemia
Weight loss ORPHA:520
Primary Hyperoxaluria
Metabolic acidosis, Failure to thrive ORPHA:416
Lujo Hemorrhagic Fever
Metabolic acidosis ORPHA:319213
Carnitine Palmitoyltransferase Ii Deficiency
Hypoketotic hypoglycemia ORPHA:157
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Weight loss ORPHA:424
Cardiogenic Shock
Increased serum lactate, Metabolic acidosis ORPHA:97292
Klatskin Tumor
Weight loss ORPHA:99978
Neuroendocrine Tumor Of The Colon
Weight loss ORPHA:100080
Sporadic Pheochromocytoma/Secreting Paraganglioma
Weight loss ORPHA:276621
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Slender build, Neonatal hypoglycemia, Large for gestational age ORPHA:457359
Budd-Chiari Syndrome
Weight loss ORPHA:131
Paroxysmal Nocturnal Hemoglobinuria
Lethargy, Renal Fanconi syndrome, Glycosuria ORPHA:447
Osteootohepatoenteric Syndrome
Failure to thrive, Weight loss OMIM:619377
Eosinophilic Granulomatosis With Polyangiitis
Weight loss ORPHA:183
Non-Acquired Panhypopituitarism
Pituitary dwarfism, Short stature, Hypoglycemia, Growth delay, Delayed puberty ORPHA:90695
Drug Reaction With Eosinophilia And Systemic Symptoms
Weight loss ORPHA:139402
Tropical Endomyocardial Fibrosis
Cachexia ORPHA:75565
Bronchial Neuroendocrine Tumor
Weight loss ORPHA:97287
Peripheral Primitive Neuroectodermal Tumor
Weight loss ORPHA:370348
Beckwith-Wiedemann Syndrome
Hypoglycemia, Obesity, Neonatal hypoglycemia, Large for gestational age ORPHA:116
Neuroendocrine Tumor Of The Rectum
Weight loss ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Weight loss ORPHA:100082
Thymoma
Weight loss ORPHA:99867
Anemia, Congenital Dyserythropoietic, Type Iv
Short stature, Weight loss OMIM:613673
Carney-Stratakis Syndrome
Weight loss ORPHA:97286
Hereditary Amyloidosis With Primary Renal Involvement
Weight loss ORPHA:85450
Cystic Echinococcosis
Weight loss ORPHA:400
Familial Pancreatic Carcinoma
Diabetes mellitus, Weight loss ORPHA:1333
Glucagonoma
Diabetes mellitus, Weight loss, Subcutaneous lipoma, Depression ORPHA:97280
Fanconi Anemia
Abnormality of chromosome stability, Short stature, Weight loss, Growth delay, Intrauterine growt... ORPHA:84
Thyrotoxic Periodic Paralysis
Postprandial hyperglycemia, Obesity, Weight loss ORPHA:79102
Neurooculorenal Syndrome
Postnatal growth retardation, Recurrent hypoglycemia OMIM:620305
Primary Hepatic Neuroendocrine Carcinoma
Weight loss ORPHA:100085
Stevens-Johnson Syndrome
Hypokalemic metabolic alkalosis, Weight loss ORPHA:36426
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Mild postnatal growth retardation, Weight loss ORPHA:85408
Simpson-Golabi-Behmel Syndrome
Hypoglycemia ORPHA:373
Pineoblastoma
Lethargy ORPHA:251909
Mucolipidosis Type Ii
Postnatal growth retardation, Short stature, Weight loss ORPHA:576
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
Amoebiasis Due To Entamoeba Histolytica
Weight loss ORPHA:67
Neuroleptic Malignant Syndrome
Metabolic acidosis ORPHA:94093
Al Amyloidosis
Weight loss ORPHA:85443
Polycythemia Vera
Weight loss ORPHA:729
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Failure to thrive, Weight loss ORPHA:1018
Malignant Atrophic Papulosis
Weight loss ORPHA:679
Hereditary Pheochromocytoma-Paraganglioma
Weight loss ORPHA:29072
Familial Gestational Hyperthyroidism
Weight loss ORPHA:99819
Renal Agenesis, Bilateral
Nonketotic hypoglycemia ORPHA:1848
Simple Cryoglobulinemia
Weight loss ORPHA:91139
Scorpion Envenomation
Respiratory alkalosis, Abnormality of acid-base homeostasis, Mixed respiratory and metabolic acid... ORPHA:466677
Zollinger-Ellison Syndrome
Lipoma, Multiple lipomas, Increased glucagon level, Weight loss ORPHA:913
Systemic Mastocytosis With Associated Hematologic Neoplasm
Weight loss ORPHA:98849
Pancreatic Triacylglycerol Lipase Deficiency
Growth delay, Weight loss ORPHA:309031
Malignant Hyperthermia Of Anesthesia
Metabolic acidosis ORPHA:423
Primary Sclerosing Cholangitis
Type I diabetes mellitus, Weight loss, Depression ORPHA:171
Somatostatinoma
Diabetes mellitus, Subcutaneous lipoma, Weight loss ORPHA:97283
Familial Thrombocytosis
Weight loss ORPHA:71493
Granulomatosis With Polyangiitis
Weight loss OMIM:608710
Juvenile Dermatomyositis
Weight loss ORPHA:93672
Vipoma
Diabetes mellitus, Subcutaneous lipoma, Weight loss ORPHA:97282
Gallbladder Neuroendocrine Tumor
Weight loss ORPHA:100086
Hyperoxaluria, Primary, Type I
Metabolic acidosis OMIM:259900
Liver Disease, Severe Congenital
Metabolic acidosis, Intrauterine growth retardation, Failure to thrive, Hyperinsulinemic hypoglyc... OMIM:619991
Neuroendocrine Tumor Of Stomach
Weight loss ORPHA:100075
Eisenmenger Syndrome
Lethargy ORPHA:97214
Q Fever
Weight loss ORPHA:781
Caroli Disease
Weight loss ORPHA:53035
Combined Pituitary Hormone Deficiencies, Genetic Forms
Growth delay, Pituitary dwarfism, Hypoglycemia, Delayed puberty ORPHA:95494
Renal Nutcracker Syndrome
Weight loss ORPHA:71273
Pancreatoblastoma
Weight loss ORPHA:677
Pyomyositis
Weight loss ORPHA:764
Igg4-Related Retroperitoneal Fibrosis
Weight loss ORPHA:49041
Alveolar Echinococcosis
Weight loss ORPHA:284
Castleman Disease
Weight loss ORPHA:160
Hermansky-Pudlak Syndrome
Weight loss ORPHA:79430
Brucellosis
Weight loss, Failure to thrive, Small for gestational age, Depression ORPHA:1304
Toxic Epidermal Necrolysis
Weight loss ORPHA:537
Aicardi-Goutieres Syndrome 7
Intrauterine growth retardation, Weight loss OMIM:615846
Holoprosencephaly 1
Short stature, Hypoglycemia OMIM:236100
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Small for gestational age, Hypoglycemia OMIM:201750
Erdheim-Chester Disease
Weight loss ORPHA:35687
Ppoma
Subcutaneous lipoma, Weight loss ORPHA:97278
Biliary, Renal, Neurologic, And Skeletal Syndrome
Short stature, Increased serum lactate, Metabolic acidosis, Neonatal death, Failure to thrive OMIM:619534
Parathyroid Carcinoma
Lipoma, Weight loss ORPHA:143
Malt Lymphoma
Weight loss ORPHA:52417
Multiple Myeloma
Weight loss ORPHA:29073
Choreoacanthocytosis
Depression, Bradykinesia, Weight loss, Apathy, Self-neglect ORPHA:2388
Congenital Fiber-Type Disproportion Myopathy
Failure to thrive, Weight loss ORPHA:2020
Cushing Syndrome Due To Ectopic Acth Secretion
Diabetes mellitus, Dorsocervical fat pad, Impaired glucose tolerance, Increased body weight, Weig... ORPHA:99889
Tsh-Secreting Pituitary Adenoma
Weight loss, Delayed puberty ORPHA:91347
Oculopharyngodistal Myopathy 1
Weight loss OMIM:164310
Rat-Bite Fever
Weight loss ORPHA:31205
Grfoma
Subcutaneous lipoma, Weight loss ORPHA:97261
Ileal Neuroendocrine Tumor
Weight loss ORPHA:100078
Reactive Arthritis
Weight loss ORPHA:29207
Hutchinson-Gilford Progeria Syndrome
Insulin resistance, Absence of subcutaneous fat, Weight loss, Severe failure to thrive, Delayed m... ORPHA:740
Granulomatosis With Polyangiitis
Weight loss ORPHA:900
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal Fanconi syndrome, Hyperchloremic metabolic acidosis, Weight loss ORPHA:91500
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Weight loss OMIM:301074
Pulmonary Alveolar Microlithiasis
Weight loss ORPHA:60025
Yellow Fever
Decreased serum bicarbonate concentration, Metabolic acidosis ORPHA:99829
Postinfectious Vasculitis
Weight loss ORPHA:48435
Behçet Disease
Weight loss ORPHA:117
Beckwith-Wiedemann Syndrome
Neonatal hypoglycemia OMIM:130650
Dermatomyositis
Weight loss ORPHA:221
Nocardiosis
Weight loss ORPHA:31204
Igg4-Related Dacryoadenitis And Sialadenitis
Weight loss ORPHA:79078
Sarcoidosis, Susceptibility To, 1
Weight loss OMIM:181000
Kikuchi-Fujimoto Disease
Weight loss ORPHA:50918
African Trypanosomiasis
Apathy, Weight loss ORPHA:3385
Igg4-Related Kidney Disease
Weight loss ORPHA:449395
Immunodeficiency 82 With Systemic Inflammation
Weight loss OMIM:619381
Sotos Syndrome
Neonatal hypoglycemia ORPHA:821
Sarcoidosis
Weight loss ORPHA:797
Chronic Graft Versus Host Disease
Weight loss ORPHA:99921
Goodpasture Syndrome
Weight loss OMIM:233450

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 Hacd2

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 Hacd2.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Hacd2 deficiency in mice leads to an early and lethal mitochondrial disease. Molecular metabolism (January 2023) Hacd2tm1c(EUCOMM)Hmgu Hacd2tm1a(EUCOMM)Hmgu Hacd2tm1d(EUCOMM)Hmgu Hacd2tm1b(EUCOMM)Hmgu PMC9986742

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Hacd2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Hacd2tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Hacd2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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