Gene Summary

Name:
glutaryl-Coenzyme A dehydrogenase
Synonyms:
D17825

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Gcdhtm2b(EUCOMM)Hmgu HOM   Early adult 0.00
increased heart left ventricle size Gcdhtm2b(EUCOMM)Hmgu HOM Early adult 1.30×10-06

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Kidney  Wholemount images heterozygote 0.0% (0 of 2)
Prostate gland  Wholemount images heterozygote 0.0% (0 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Vas deferens  Wholemount images heterozygote 0.0% (0 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote Not available
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 585)
aorta 0.17% (1 of 585)
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cecum 3.23% (12 of 371)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
mesenteric lymph node 0.0%
olfactory lobe 0.34% (2 of 585)
oral epithelium 0.0%
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vas deferens 3.93% (15 of 382)
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

Adult LacZ

LacZ Images Wholemount

4 Images

X-ray

XRay Images Whole Body Dorso Ventral

13 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

X-ray

XRay Images Skull Lateral Orientation

13 Images

X-ray

XRay Images Forepaw

13 Images

Human diseases caused by Gcdh mutations

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

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Diaminopentanuria
Hyperlysinuria, Ataxia, Cystinuria, Neurodegeneration OMIM:222350
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Failure to thrive, Gait disturbance, Lethargy ORPHA:79283
Homocystinuria Without Methylmalonic Aciduria
Failure to thrive, Ataxia, Lethargy ORPHA:622
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Chorea, Ataxia, Bradykinesia, Lethargy OMIM:618683
Developmental And Epileptic Encephalopathy 92
Dystonia, Ataxia, Inability to walk, Difficulty walking, Lethargy OMIM:617829
Congenital Megacalycosis
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... ORPHA:93109
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Choreoathetosis, Paroxysmal lethargy, Ataxia, Confusion, Lethargy OMIM:606777
Mitochondrial Complex I Deficiency, Nuclear Type 3
Dystonia, Ataxia, Lethargy OMIM:618224
Hyperoxaluria, Primary, Type Ii
Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hyperoxaluria, Hematuria, Aminoaciduria, Renal... OMIM:260000
Immunodeficiency, Common Variable, 6
Macroscopic hematuria, Hepatomegaly, Hydronephrosis, Mesangial Immune complex deposition, Stage 5... OMIM:613496
Fructosuria, Essential
Impairment of fructose metabolism OMIM:229800
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Methylmalonic Acidemia With Homocystinuria
Failure to thrive, Gait disturbance, Lethargy ORPHA:26
Huntington Disease-Like 2
Dystonia, Gait disturbance, Weight loss, Chorea ORPHA:98934
Primary Hyperoxaluria Type 3
Calcium oxalate nephrolithiasis, Abnormality of urine homeostasis, Nephrocalcinosis, Hematuria, H... ORPHA:93600
Primary Hyperoxaluria Type 2
Ureteral obstruction, Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Recurrent urinary tract i... ORPHA:93599
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Recessive
Failure to thrive, Abnormal glycosylation OMIM:615596
Leukoencephalopathy, Progressive, With Ovarian Failure
Tremor, Ataxia, Cerebellar atrophy, Neurodegeneration OMIM:615889
Hypothyroidism, Congenital, Nongoitrous, 7
Lethargy OMIM:618573
N-Acetylglutamate Synthase Deficiency
Failure to thrive, Coma, Confusion, Lethargy OMIM:237310
Tyrosinemia Type 2
Ataxia, Abnormality of amino acid metabolism ORPHA:28378
Methylmalonic Aciduria, Transient, Due To Transcobalamin Receptor Defect
Methylmalonic aciduria OMIM:613646
Hereditary Central Diabetes Insipidus
Weight loss, Lethargy ORPHA:30925
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Ataxia, Cachexia, Confusion, Abnormality of amino acid metabolism ORPHA:220295
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Failure to thrive, Gait disturbance, Decreased methylcobalamin, Lethargy OMIM:236270
Mitochondrial Complex I Deficiency, Nuclear Type 6
Failure to thrive, Lethargy OMIM:618228
Encephalopathy, Recurrent, Of Childhood
Athetosis, Choreoathetosis, Chorea, Truncal ataxia, Lethargy OMIM:130950
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Difficulty walking, Lethargy OMIM:613710
Dihydropyrimidine Dehydrogenase Deficiency
Failure to thrive, Hyperactivity, Lethargy OMIM:274270
Ceroid Lipofuscinosis, Neuronal, 7
Ataxia, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration OMIM:610951
Cerebral Creatine Deficiency Syndrome 3
Organic aciduria OMIM:612718
Nephrolithiasis, Calcium Oxalate
Hyperoxaluria, Acute kidney injury, Ureteropelvic junction obstruction, Calcium oxalate nephrolit... OMIM:167030
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Confusion, Lethargy OMIM:617900
Huntington Disease-Like 2
Chorea, Dystonia, Weight loss, Bradykinesia OMIM:606438
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Choreoathetosis, Chorea, Ataxia, Confusion, Lethargy ORPHA:71277
Multiple Mitochondrial Dysfunctions Syndrome 1
Failure to thrive, Lethargy OMIM:605711
Juvenile Huntington Disease
Dystonia, Chorea, Weight loss, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Ataxia... ORPHA:248111
Essential Fructosuria
Impairment of fructose metabolism ORPHA:2056
Fructose And Galactose Intolerance
Fructose intolerance, Galactose intolerance OMIM:229500
Hyperoxaluria, Primary, Type Iii
Hyperoxaluria, Calcium oxalate nephrolithiasis OMIM:613616
Pyruvate Dehydrogenase E1-Alpha Deficiency
Dystonia, Small for gestational age, Choreoathetosis, Episodic ataxia, Lethargy OMIM:312170
Vitamin B12-Responsive Methylmalonic Acidemia
Failure to thrive, Coma, Lethargy ORPHA:28
Cystinuria
Ornithinuria, Nephrolithiasis, Cystinuria, Recurrent urinary tract infections, Argininuria, Hyper... OMIM:220100
Nephronophthisis 16
Nephronophthisis, Polycystic kidney dysplasia, Renal insufficiency, Enlarged kidney OMIM:615382
Central Neurocytoma
Paresthesia, Ataxia, Coma, Pain insensitivity, Lethargy ORPHA:73256
Dibasic Amino Aciduria I
Argininuria, Dibasicaminoaciduria, Hyperlysinuria, Ornithinuria OMIM:222690
Cystinuria
Abnormality of amino acid metabolism ORPHA:214
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Dystonia, Gait disturbance, Bradykinesia, Low levels of vitamin E, Dysdiadochokinesis, Abnormalit... ORPHA:309854
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Weight loss, Cachexia, Gait ataxia OMIM:612075
Immunodeficiency 83, Susceptibility To Viral Infections
Confusion, Lethargy OMIM:613002
Central Diabetes Insipidus
Failure to thrive, Weight loss, Excessive daytime somnolence, Lethargy ORPHA:178029
Autosomal Recessive Dopa-Responsive Dystonia
Bradykinesia, Focal dystonia, Ataxia, Limb dystonia, Generalized dystonia, Oculogyric crisis, Gai... ORPHA:101150
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Failure to thrive, Lethargy OMIM:201470
Renal Dysplasia
Abnormal renal calyx morphology, Chronic kidney disease, Abnormal nephron morphology, Vesicovagin... ORPHA:93108
Iminoglycinuria
Prolinuria, Hydroxyprolinuria, Hyperglycinuria OMIM:242600
Iminoglycinuria
Prolinuria, Hydroxyprolinuria, Hyperglycinuria ORPHA:42062
Aa Amyloidosis
Hepatomegaly, Nephrotic syndrome, Acute kidney injury, Nephropathy, Chronic kidney disease, Prote... ORPHA:85445
Mitochondrial Complex I Deficiency, Nuclear Type 4
Ataxia, Lethargy OMIM:618225
Glycine Encephalopathy
Hyperactivity, Lethargy OMIM:605899
Citrullinemia Type I
Failure to thrive, Torticollis, Ataxia, Coma, Loss of consciousness, Lethargy ORPHA:247525
Short Chain Acyl-Coa Dehydrogenase Deficiency
Failure to thrive, Dystonia, Lethargy ORPHA:26792
Hyperlysinuria With Hyperammonemia
Coma, Lethargy OMIM:238750
Dihydrolipoamide Dehydrogenase Deficiency
Dystonia, Ataxia, Lethargy OMIM:246900
Mitochondrial Complex I Deficiency, Nuclear Type 5
Failure to thrive, Dystonia, Ataxia, Lethargy OMIM:618226
Focal Segmental Glomerulosclerosis 7
Renal hypoplasia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616002
Developmental And Epileptic Encephalopathy 41
Inability to walk, Lethargy OMIM:617105
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Failure to thrive, Ataxia, Coma, Episodic ataxia, Lethargy OMIM:311250
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Coma, Drowsiness, Increased body weight, Lethargy ORPHA:276608
Combined Oxidative Phosphorylation Deficiency 2
Small for gestational age, Lethargy OMIM:610498
Gaba-Transaminase Deficiency
Lethargy OMIM:613163
Nephronophthisis 2
Chronic tubulointerstitial nephritis, Nephronophthisis, Stage 5 chronic kidney disease, Absence o... OMIM:602088
Pulmonary Blastoma
Weight loss ORPHA:64741
Lethal Infantile Mitochondrial Myopathy
Lethargy ORPHA:254857
Tuberculosis
Weight loss ORPHA:3389
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Weight loss, Cachexia, Slender build, Ataxia OMIM:613662
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrocalcinosis, Proximal tubulopathy... OMIM:308990
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Failure to thrive, Ataxia, Coma, Lethargy OMIM:237300
Combined Oxidative Phosphorylation Deficiency 36
Aciduria OMIM:617950
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Drowsiness, Failure to thrive, Ataxia, Coma, Loss of consciousness, Delirium, Confusion, Lethargy ORPHA:927
Febrile Infection-Related Epilepsy Syndrome
Lethargy ORPHA:163703
Early Myoclonic Encephalopathy
Lethargy ORPHA:1935
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Dystonia, Decreased adenosylcobalamin, Methylmalonic acidemia, Spastic ataxia, Decreased methylco... OMIM:277410
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Failure to thrive, Gait disturbance, Ataxia, Lethargy OMIM:615838
Urocanic Aciduria
Urocanic aciduria, Ataxia, Truncal ataxia, Action tremor, Gait ataxia ORPHA:210128
Hyperinsulinism Due To Hnf1A Deficiency
Drowsiness, Small for gestational age, Large for gestational age, Loss of consciousness, Hypoglyc... ORPHA:324575
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Dystonia, Choreoathetosis, Chorea, Coma, Lethargy ORPHA:289916
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Dystonia, Choreoathetosis, Failure to thrive, Coma, Lethargy ORPHA:79312
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Cerebellar atrophy, Urinary urgency, Dysmetria, Atrophy/Degeneration affecting the brainstem, Neu... OMIM:612319
Hyperinsulinism Due To Ucp2 Deficiency
Drowsiness, Large for gestational age, Loss of consciousness, Hypoglycemic coma, Lethargy ORPHA:276556
Galactose Epimerase Deficiency
Weight loss, Impairment of galactose metabolism ORPHA:79238
Holocarboxylase Synthetase Deficiency
Ataxia, Weight loss, Coma, Lethargy ORPHA:79242
Primary Hyperoxaluria Type 1
Hyperoxaluria, Nephrocalcinosis, Hematuria, Decreased glomerular filtration rate, Dysuria, Nephro... ORPHA:93598
Glycerol Kinase Deficiency
Coma, Loss of consciousness, Small for gestational age, Lethargy OMIM:307030
Cyclic Vomiting Syndrome
Ataxia, Attention deficit hyperactivity disorder, Lethargy OMIM:500007
Spinocerebellar Ataxia 48
Dystonia, Cachexia, Dysmetria, Chorea, Ataxia, Gait ataxia OMIM:618093
Isaac Syndrome
Distal sensory impairment, Weight loss ORPHA:84142
Autosomal Dominant Polycystic Kidney Disease
Decreased glomerular filtration rate, Hematuria, Pyelonephritis, Renal cyst, Nephrolithiasis, Sta... ORPHA:730
Paternal Uniparental Disomy Of Chromosome 1
Macroscopic hematuria, Brain atrophy, Membranoproliferative glomerulonephritis, Pain insensitivit... ORPHA:251004
Susac Syndrome
Somatic sensory dysfunction, Gait ataxia, Confusion, Lethargy ORPHA:838
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebellar atrophy, Chorea, Neurodegeneration, Ataxia, Cerebral atrophy, Cerebral cortical atrophy OMIM:617672
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Drowsiness, Large for gestational age, Loss of consciousness, Hypoglycemic coma, Lethargy ORPHA:276575
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Failure to thrive, Ataxia, Lethargy OMIM:201100
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Tubulointerstitial fibrosis, Renal cyst, Splenomegaly, Polycystic kidney dysplasia,... OMIM:263200
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Cerebellar atrophy, Dysmetria, Neurodegeneration, Axonal degeneration, Tremor, Ataxia, Dysdiadoch... OMIM:615157
Hypercalcemia, Infantile, 1
Failure to thrive, Weight loss, Lethargy OMIM:143880
Carnitine Deficiency, Systemic Primary
Failure to thrive, Excessive daytime somnolence, Coma, Confusion, Lethargy OMIM:212140
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Failure to thrive, Coma, Impaired vibratory sensation, Confusion, Lethargy OMIM:238970
Severe Canavan Disease
Inability to walk, Lethargy ORPHA:314911
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Drowsiness, Large for gestational age, Loss of consciousness, Hypoglycemic coma, Lethargy ORPHA:276580
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Dicarboxylic Aminoaciduria
Aminoaciduria, Nephrolithiasis, Aspartic aciduria OMIM:222730
Cirrhosis, Familial
Lethargy OMIM:215600
Myxedema
Paresthesia, Lethargy OMIM:255900
Glutaric Acidemia Type 3
Failure to thrive, Lethargy ORPHA:35706
Hyperphenylalaninemia, Bh4-Deficient, B
Dystonia, Choreoathetosis, Lethargy OMIM:233910
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Ataxia, Lethargy OMIM:614299
Dopa-Responsive Dystonia
Dystonia, Gait disturbance, Arm dystonia, Inability to walk, Generalized dystonia, Oculogyric cri... ORPHA:255
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Neurodegeneration, Cerebellar atrophy, Gait ataxia ORPHA:438134
Insulinoma
Paresthesia, Abnormality of pain sensation, Coma, Reduced consciousness/confusion, Fluctuations i... ORPHA:97279
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cachexia, Ataxia, Coma, Loss of consciousness, Lethargy ORPHA:42
Classic Galactosemia
Dystonia, Gait disturbance, Gait imbalance, Low levels of vitamin D, Ataxia, Attention deficit hy... ORPHA:79239
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Failure to thrive, Coma, Methylmalonic acidemia, Lethargy OMIM:251000
Pyruvate Dehydrogenase E3 Deficiency
Failure to thrive, Ataxia, Lethargy ORPHA:2394
Carcinoma Of Esophagus
Obesity, Weight loss ORPHA:70482
Vitamin B12-Unresponsive Methylmalonic Acidemia
Ataxia, Choreoathetosis, Coma, Lethargy ORPHA:27
Neurodegeneration With Brain Iron Accumulation 5
Tremor, Neurodegeneration, Cerebellar atrophy, Cerebral atrophy OMIM:300894
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Hydronephrosis, Renal sarcoma, Nephrotic syndrome, Rena... OMIM:143400
Hodgkin Lymphoma
Ataxia, Weight loss ORPHA:98293
Galactosemia
Gait disturbance, Dystonia, Gait imbalance, Failure to thrive, Ataxia, Lethargy ORPHA:352
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Failure to thrive in infancy, Lethargy OMIM:619064
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Decreased adenosylcobalamin, Methylmalonic acidemia, Decreased methylcobalamin, Lethargy OMIM:614857
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paresthesia, Lethargy ORPHA:49827
Multiple Carboxylase Deficiency
Ataxia, Coma, Lethargy ORPHA:148
Galactose Mutarotase Deficiency
Failure to thrive, Impairment of galactose metabolism ORPHA:570422
Thyroid Dyshormonogenesis 1
Lethargy OMIM:274400
Leukoencephalopathy With Vanishing White Matter
Unsteady gait, Gait disturbance, Lethargy OMIM:603896
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy OMIM:610006
Spastic Paraplegia 79, Autosomal Recessive
Cerebellar atrophy, Head titubation, Dysmetria, Neurodegeneration, Intention tremor, Ataxia, Cere... OMIM:615491
Renal-Hepatic-Pancreatic Dysplasia 2
Cystic renal dysplasia, Hepatomegaly, Enlarged kidney OMIM:615415
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Failure to thrive, Lethargy ORPHA:2089
Methylmalonic Aciduria, Cblb Type
Decreased adenosylcobalamin, Methylmalonic acidemia, Failure to thrive, Coma, Lethargy OMIM:251110
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Gait imbalance, Lethargy OMIM:618120
Idiopathic Intracranial Hypertension
Obesity, Lethargy ORPHA:238624
Crigler-Najjar Syndrome
Lethargy ORPHA:205
Idiopathic Achalasia
Weight loss ORPHA:930
Phenylketonuria
Aminoaciduria ORPHA:716
Pyruvate Dehydrogenase Deficiency
Dystonia, Gait disturbance, Choreoathetosis, Ataxia, Lethargy ORPHA:765
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Failure to thrive, Coma, Lethargy OMIM:210200
Mucopolysaccharidosis-Plus Syndrome
Renal tubular atrophy, Hepatomegaly, Focal segmental glomerulosclerosis, Nephrotic syndrome, Neph... OMIM:617303
Benign Samaritan Congenital Myopathy
Lethargy ORPHA:324581
Maple Syrup Urine Disease
Ataxia, Coma, Lethargy OMIM:248600
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Methylmalonic Aciduria, Cbla Type
Decreased adenosylcobalamin, Methylmalonic acidemia, Failure to thrive, Coma, Lethargy OMIM:251100
Huntington Disease
Gait disturbance, Dystonia, Gait imbalance, Decreased body mass index, Weight loss, Chorea, Brady... ORPHA:399
Riboflavin Deficiency
Dicarboxylic aciduria OMIM:615026
Oromandibular Dystonia
Lingual dystonia, Torticollis, Weight loss, Laryngeal dystonia, Generalized dystonia, Blepharospa... ORPHA:93958
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Carnitine Palmitoyl Transferase 1A Deficiency
Coma, Loss of consciousness, Lethargy ORPHA:156
Primary Hyperoxaluria
Nephrocalcinosis, Hyperoxaluria, Calcium oxalate nephrolithiasis, Hematuria, Aciduria, Stage 5 ch... ORPHA:416
Typhoid
Ataxia, Coma, Lethargy ORPHA:99745
Methylmalonic Acidemia With Homocystinuria Type Cblf
Decreased adenosylcobalamin, Failure to thrive, Decreased methylcobalamin, Vitamin B12 deficiency... ORPHA:79284
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Dystonia, Chorea, Coma, Inability to walk, Craniofacial dystonia, Gait ataxia, Confusion, Lethargy OMIM:607483
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Decreased adenosylcobalamin, Methylmalonic acidemia, Failure to thrive, Decreased methylcobalamin... OMIM:277380
Hemochromatosis, Type 2A
Lethargy OMIM:602390
Congenital Disorder Of Glycosylation, Type Ix
Failure to thrive, Abnormal glycosylation OMIM:615597
Isovaleric Acidemia
Coma, Lethargy OMIM:243500
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Ureteral duplication, Hydronephrosis, Cardiomegaly, Polycystic kidney dysplasia, Lo... OMIM:608836
Hemochromatosis Type 2
Lethargy ORPHA:79230
Dihydropyrimidinase Deficiency
Excessive daytime somnolence, Lethargy OMIM:222748
Mitochondrial Complex I Deficiency, Nuclear Type 9
Lethargy OMIM:618232
Classic Homocystinuria
Abnormality of amino acid metabolism ORPHA:394
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Failure to thrive, Lethargy OMIM:611590
Bile Acid Synthesis Defect, Congenital, 6
Dysmetria, Ataxia, Low levels of vitamin D OMIM:617308
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Organic aciduria OMIM:617184
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Dystonia, Ataxia, Chorea, Lethargy OMIM:618321
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Combined Oxidative Phosphorylation Deficiency 52
Lethargy OMIM:619386
Idiopathic Congenital Hypothyroidism
Lethargy ORPHA:95717
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Athetosis, Chorea, Homocystinuria, Methylmalonic aciduria OMIM:309541
Graves Disease, Susceptibility To, 1
Hyperactivity, Weight loss OMIM:275000
Transcobalamin Ii Deficiency
Failure to thrive, Ataxia, Lethargy OMIM:275350
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Organic aciduria OMIM:255100
Citrullinemia Type Ii
Drowsiness, Decreased body mass index, Hyperactivity, Coma, Fluctuations in consciousness, Deliri... ORPHA:247585
Chronic Hiccup
Weight loss ORPHA:396
Citrullinemia, Classic
Failure to thrive, Ataxia, Coma, Lethargy OMIM:215700
Methylcobalamin Deficiency Type Cble
Drowsiness, Failure to thrive, Excessive daytime somnolence, Loss of consciousness, Lethargy ORPHA:2169
Peroxisome Biogenesis Disorder 1B
Hepatomegaly, Renal cyst, Hyperoxaluria OMIM:601539
Diaphanospondylodysostosis
Cystic renal dysplasia, Nephrogenic rest, Nephroblastomatosis, Enlarged kidney OMIM:608022
Classic Pantothenate Kinase-Associated Neurodegeneration
Gait disturbance, Weight loss, Inability to walk, Generalized dystonia, Tip-toe gait, Attention d... ORPHA:216866
Hyperinsulinism Due To Hnf4A Deficiency
Drowsiness, Large for gestational age, Coma, Increased body weight, Lethargy ORPHA:263455
Meningococcal Meningitis
Lethargy, Drowsiness, Paresthesia, Reduced consciousness/confusion ORPHA:33475
Glycogen Storage Disease Ia
Hepatomegaly, Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolit... OMIM:232200
Hyperoxaluria, Primary, Type I
Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hyperoxaluria, Hematuria, Renal insufficiency OMIM:259900
Mulibrey Nanism
Cachexia ORPHA:2576
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Huntington Disease-Like 1
Gait disturbance, Dysmetria, Chorea, Weight loss, Bradykinesia, Gait ataxia ORPHA:157941
Hsd10 Disease, Infantile Type
Choreoathetosis, Abnormal concentration of acylcarnitine in the urine, Neurodegeneration, Cardiom... ORPHA:391428
Glycogen Storage Disease Ib
Hepatomegaly, Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolit... OMIM:232220
X-Linked Creatine Transporter Deficiency
Athetosis, Dystonia, Cachexia, Chorea, Hyperactivity, Ataxia ORPHA:52503
Carnitine Palmitoyltransferase I Deficiency
Coma, Lethargy OMIM:255120
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Decreased adenosylcobalamin, Methylmalonic acidemia, Failure to thrive, Decreased methylcobalamin... OMIM:277400
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Adrenoleukodystrophy
Impaired vibration sensation at ankles, Urinary bladder sphincter dysfunction, Neurodegeneration,... OMIM:300100
Propionic Acidemia
Failure to thrive, Dystonia, Coma, Lethargy OMIM:606054
Tyrosinemia, Type I
Renal Fanconi syndrome, Hepatomegaly, Nephrocalcinosis, Glomerular sclerosis, Splenomegaly, Renal... OMIM:276700
Diabetes Mellitus, Permanent Neonatal, 3
Athetosis, Glycosuria, Ketonuria OMIM:618857
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Renal dysplasia, Enlarged kidney, Polycystic kidney dysplasia, Renal insufficiency,... OMIM:208540
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Coma, Lethargy OMIM:201450
Gm2 Gangliosidosis, Ab Variant
Chorea, Exaggerated startle response, Neurodegeneration, Cerebral atrophy ORPHA:309246
Fanconi Renotubular Syndrome 1
Renal tubular dysfunction, Lacticaciduria, Glycosuria, Aminoaciduria, Proteinuria, Renal insuffic... OMIM:134600
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Neurodegeneration, Neuronal loss in central nervous system, Ataxia, Cerebral ... OMIM:256600
Evans Syndrome
Lethargy ORPHA:1959
Pyruvate Dehydrogenase Phosphatase Deficiency
Lacticaciduria ORPHA:79246
Infantile Liver Failure Syndrome 2
Lethargy OMIM:616483
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Heavy proteinuria, Nephrotic syndrome, Hepatosplenomegaly, Brain atrophy, Urinary glycosaminoglyc... ORPHA:505248
Congenital Muscular Dystrophy Due To Lmna Mutation
Gait disturbance, Cachexia ORPHA:157973
Mitochondrial Dna Depletion Syndrome 18
Axonal degeneration, Lacticaciduria OMIM:618811
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Lethargy OMIM:600649
Laryngeal Neuroendocrine Tumor
Weight loss ORPHA:100083
Spinocerebellar Ataxia, X-Linked 3
Dysmetria, Lethargy OMIM:301790
Pelizaeus-Merzbacher Disease
Dystonia, Gait disturbance, Failure to thrive in infancy, Cachexia, Choreoathetosis, Ataxia ORPHA:702
Liposarcoma
Weight loss, Paresthesia ORPHA:69078
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Aromatic L-Amino Acid Decarboxylase Deficiency
Athetosis, Choreoathetosis, Torticollis, Limb dystonia, Oculogyric crisis, Blepharospasm, Lethargy OMIM:608643
Igg4-Related Kidney Disease
Ureteral obstruction, Hydronephrosis, Urinary bladder inflammation, Tubulointerstitial nephritis,... ORPHA:449395
Oculopharyngodistal Myopathy
Loss of ability to walk, Weight loss, Difficulty walking ORPHA:98897
Christianson Syndrome
Dystonia, Cachexia, Gait ataxia, Truncal ataxia ORPHA:85278
Endocrine-Cerebroosteodysplasia
Hypospadias, Micropenis, Hyperechogenic kidneys, Microphallus, Enlarged kidney OMIM:612651
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Failure to thrive, Coma, Lethargy OMIM:210210
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Perry Syndrome
Dystonia, Weight loss, Bradykinesia, Short stepped shuffling gait, Akinesia OMIM:168605
Mitochondrial Trifunctional Protein Deficiency
Failure to thrive, Small for gestational age, Lethargy OMIM:609015
Brown-Vialetto-Van Laere Syndrome 2
Ataxia, Organic aciduria OMIM:614707
Ogden Syndrome
Torticollis, Shuffling gait, Excessive daytime somnolence, Lethargy ORPHA:276432
Gerstmann-Straussler Disease
Weight loss, Bradykinesia, Truncal ataxia, Limb ataxia, Gait ataxia OMIM:137440
Fructose-1,6-Bisphosphatase Deficiency
Coma, Lethargy OMIM:229700
Neurodegeneration With Brain Iron Accumulation 3
Choreoathetosis, Chorea, Neurodegeneration, Tremor, Ataxia OMIM:606159
Stt3A-Cdg
Failure to thrive, Abnormal glycosylation ORPHA:370921
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Abnormal glycosylation OMIM:611588
Juvenile Amyotrophic Lateral Sclerosis
Dystonia, Cachexia, Arm dystonia, Axial dystonia, Chorea, Oromandibular dystonia, Retrocollis, At... ORPHA:300605
Resistance To Thyrotropin-Releasing Hormone Syndrome
Lethargy, Overweight ORPHA:99832
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Failure to thrive, Spastic gait, Progressive cerebellar ataxia, Coma, Impaired vibratory sensatio... ORPHA:415
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Lethargy OMIM:615751
Propionic Acidemia
Hepatomegaly, Organic aciduria ORPHA:35
Classic Hodgkin Lymphoma
Ataxia, Weight loss ORPHA:391
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss ORPHA:86893
Gm2-Gangliosidosis, Ab Variant
Chorea, Exaggerated startle response, Neurodegeneration, Cerebral atrophy OMIM:272750
Moynahan Syndrome
Cachexia ORPHA:2574
Argininosuccinic Aciduria
Failure to thrive, Ataxia, Coma, Lethargy OMIM:207900
Scrub Typhus
Lethargy, Reduced consciousness/confusion ORPHA:83317
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Ethylmalonic aciduria, Hepatomegaly, Cerebellar atrophy, Neuronal loss in central nervous system,... OMIM:203700
Medulloblastoma
Cerebellar ataxia associated with quadrupedal gait, Dysmetria, Progressive cerebellar ataxia, Ata... ORPHA:616
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Failure to thrive, Gait disturbance, Ataxia, Lethargy ORPHA:395
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Renal hypoplasia, Tubulointerstitial nephritis, Renal cortical atrophy, De... OMIM:174000
Mitochondrial Trifunctional Protein Deficiency
Coma, Failure to thrive in infancy, Tip-toe gait, Lethargy ORPHA:746
Richards-Rundle Syndrome
Ataxia, Ketonuria, Atrophy of the spinal cord OMIM:245100
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Micropenis, Polycystic kidney dysplasia, Enlarged kidney OMIM:613091
Familial Thyroid Dyshormonogenesis
Lethargy ORPHA:95716
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Cerebellar atrophy, Choreoathetosis, Renal tubular acidosis, Nonprogressive cerebellar ataxia, Or... ORPHA:431361
Neurodegeneration With Brain Iron Accumulation 6
Neurodegeneration OMIM:615643
Holocarboxylase Synthetase Deficiency
Coma, Lethargy OMIM:253270
Pseudo-Torch Syndrome 2
Lethargy OMIM:617397
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Elevated urinary 3-hydroxybutyric acid, Ketonuria OMIM:245050
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss ORPHA:2198
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Multiple renal cysts, Enlarged kidney, Splenomegaly ORPHA:464329
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly, Organic aciduria OMIM:614741
Lymphoid Interstitial Pneumonia
Hepatomegaly, Enlarged kidney ORPHA:79128
Beckwith-Wiedemann Syndrome
Renal cortical cysts, Hepatomegaly, Nephrocalcinosis, Cardiomegaly, Nephrolithiasis, Enlarged kid... OMIM:130650
Acrocephalopolydactylous Dysplasia
Cystic renal dysplasia, Hepatomegaly, Enlarged kidney OMIM:200995
Alg9-Cdg
Hepatomegaly, Hydronephrosis, Cerebellar atrophy, Abnormal renal artery morphology, Hypoplasia of... ORPHA:79328
Neurodegeneration With Brain Iron Accumulation 2B
Cerebellar atrophy, Dysmetria, Chorea, Neurodegeneration, Intention tremor, Dysdiadochokinesis, C... OMIM:610217
Argininosuccinic Aciduria
Ataxia, Aminoaciduria, Oroticaciduria ORPHA:23
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Ataxia, Cachexia ORPHA:1933
Richards-Rundle Syndrome
Ataxia, Ketonuria ORPHA:1399
Fatal Familial Insomnia
Ataxia, Weight loss OMIM:600072
Riboflavin Transporter Deficiency
Ataxia, Cachexia ORPHA:97229
H Syndrome
Micropenis, Hepatosplenomegaly, Abnormality of the kidney, Enlarged kidney ORPHA:168569
Familial Hypoaldosteronism
Failure to thrive, Lethargy ORPHA:427
Flynn-Aird Syndrome
Ataxia, Cachexia, Impaired pain sensation ORPHA:2047
Combined Oxidative Phosphorylation Deficiency 24
Neurodegeneration, Neuronal loss in central nervous system, Cerebellar atrophy, Focal segmental g... OMIM:616239
3-Hydroxy-3-Methylglutaric Aciduria
Weight loss, Ataxia, Coma, Hypoglycemic coma, Lethargy ORPHA:20
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Lacticaciduria OMIM:619063
Necrotizing Enterocolitis
Small for gestational age, Lethargy ORPHA:391673
Mitochondrial Complex I Deficiency, Nuclear Type 35
Elevated urinary 4-hydroxybutyric acid, Lacticaciduria OMIM:619003
Symptomatic Form Of Hemochromatosis Type 1
Weight loss, Lethargy ORPHA:465508
Focal Myositis
Weight loss ORPHA:48918
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Morgagni-Stewart-Morel Syndrome
Obesity, Abnormal metabolism ORPHA:77296
Congenital Disorder Of Glycosylation, Type Iiq
Abnormal glycosylation OMIM:617395
Combined Oxidative Phosphorylation Deficiency 11
Lethargy OMIM:614922
Reticular Dysgenesis
Failure to thrive, Weight loss ORPHA:33355
3-Methylcrotonyl-Coa Carboxylase Deficiency
Organic aciduria ORPHA:6
Stt3B-Cdg
Failure to thrive, Abnormal glycosylation ORPHA:370924
Dengue Fever
Lethargy ORPHA:99828
Sim1-Related Prader-Willi-Like Syndrome
Impaired temperature sensation, Failure to thrive, Abdominal obesity, Obesity, Lethargy ORPHA:398079
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Failure to thrive, Confusion, Lethargy ORPHA:71212
Mu-Heavy Chain Disease
Weight loss ORPHA:100024
Rett Syndrome
Dystonia, Cachexia, Truncal ataxia, Gait ataxia, Gait apraxia OMIM:312750
Aspartylglucosaminuria
Abnormality of amino acid metabolism ORPHA:93
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Weight loss, Small for gestational age ORPHA:424
Methylmalonyl-Coa Epimerase Deficiency
Methylmalonic aciduria, Ketonuria OMIM:251120
Multiple System Atrophy 1, Susceptibility To
Urinary urgency, Neurodegeneration, Tremor, Ataxia, Urinary incontinence OMIM:146500
Monocarboxylate Transporter 1 Deficiency
Ketonuria OMIM:616095
Carnitine-Acylcarnitine Translocase Deficiency
Coma, Lethargy OMIM:212138
Mast Cell Sarcoma
Weight loss ORPHA:66661
Ataxia-Telangiectasia-Like Disorder 2
Ataxia, Cerebellar atrophy, Neurodegeneration OMIM:615919
Celiac Disease, Susceptibility To, 1
Low levels of vitamin K, Failure to thrive, Reduced blood folate concentration, Weight loss, Low ... OMIM:212750
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Glutaric aciduria, Increased level of hippuric acid in urine, 3-Methylglutaric acid... OMIM:246450
Staphylococcal Necrotizing Pneumonia
Confusion, Lethargy ORPHA:36238
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy, Obesity, Small for gestational age, Overweight ORPHA:26793
Isolated Complex I Deficiency
Failure to thrive, Ataxia, Lethargy ORPHA:2609
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Lethargy OMIM:201475
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Nephrocalcinosis, Tubulointerstitial fibrosis, Nephrolithiasis, Stage 5 chronic kid... ORPHA:79259
Eosinophilic Fasciitis
Weight loss, Paresthesia ORPHA:3165
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Enlarged kidney ORPHA:276280
Krabbe Disease
Neurodegeneration, Diffuse cerebral atrophy OMIM:245200
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Myoglobinuria, Neurodegeneration, Ataxia, Cerebral atrophy, Gait ataxia, Ketonuria OMIM:616878
Autosomal Recessive Polycystic Kidney Disease
Stage 5 chronic kidney disease, Splenomegaly, Recurrent urinary tract infections, Hepatosplenomeg... ORPHA:731
Erythrokeratodermia Variabilis
Weight loss ORPHA:317
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Ataxia, Weight loss OMIM:256700
Glutaric Acidemia I
Hepatomegaly, Opisthotonus, Choreoathetosis, Glutaric aciduria, Ketonuria OMIM:231670
Isolated Succinate-Coq Reductase Deficiency
Loss of ability to walk, Ataxia, Weight loss ORPHA:3208
Follicular Lymphoma
Weight loss ORPHA:545
Biotinidase Deficiency
Ataxia, Lethargy OMIM:253260
Hirschsprung Disease
Weight loss, Failure to thrive in infancy ORPHA:388
Late-Onset Isolated Acth Deficiency
Failure to thrive, Weight loss, Lethargy ORPHA:199299
Carnitine-Acylcarnitine Translocase Deficiency
Coma, Lethargy ORPHA:159
Attrv30M Amyloidosis
Weight loss ORPHA:85447
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Distal sensory impairment, Weight loss, Cachexia, Slender build OMIM:603041
Magel2-Related Prader-Willi-Like Syndrome
Impaired temperature sensation, Failure to thrive, Abdominal obesity, Increased body weight, Leth... ORPHA:398069
Beckwith-Wiedemann Syndrome
Hepatomegaly, Ureteral duplication, Congenital megaureter, Cardiomegaly, Nephrolithiasis, Splenom... ORPHA:116
Perry Syndrome
Weight loss ORPHA:178509
Imerslund-Gräsbeck Syndrome
Failure to thrive, Weight loss, Malabsorption of Vitamin B12, Vitamin B12 deficiency, Abnormal bl... ORPHA:35858
Inflammatory Pseudotumor Of The Liver
Weight loss ORPHA:90003
D-Lactic Aciduria With Gout
Lacticaciduria OMIM:245450
Encephalitis Lethargica
Coma, Lethargy ORPHA:83600
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Failure to thrive, Ataxia, Delirium, Lethargy ORPHA:79282
Slc35A2-Cdg
Abnormal glycosylation, Failure to thrive in infancy, Decreased sialylation of O-linked protein g... ORPHA:356961
Congenital Disorder Of Glycosylation, Type Iio
Abnormal glycosylation OMIM:616828
Beta-Ketothiolase Deficiency
Weight loss, Excessive daytime somnolence, Ataxia, Coma, Reduced consciousness/confusion ORPHA:134
Fructose Intolerance, Hereditary
Failure to thrive, Coma, Fructose intolerance, Lethargy OMIM:229600
Takayasu Arteritis
Weight loss, Reduced consciousness/confusion ORPHA:3287
Pfapa Syndrome
Weight loss ORPHA:42642
Autosomal Dominant Progressive External Ophthalmoplegia
Gait disturbance, Failure to thrive, Bradykinesia, Ataxia, Gait ataxia, Lethargy ORPHA:254892
Allergic Bronchopulmonary Aspergillosis
Weight loss ORPHA:1164
Barth Syndrome
3-Methylglutaconic aciduria, Organic aciduria OMIM:302060
Pleural Mesothelioma
Weight loss ORPHA:50251
Mitochondrial Neurogastrointestinal Encephalomyopathy
Weight loss, Cachexia, Paresthesia ORPHA:298
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Ethylmalonic aciduria, Dicarboxylic aciduria, Increased urine alpha-ketoglutarate concentration, ... OMIM:619355
Isolated Thyroid-Stimulating Hormone Deficiency
Failure to thrive, Attention deficit hyperactivity disorder, Lethargy ORPHA:90674
Familial Gestational Hyperthyroidism
Hyperactivity, Weight loss ORPHA:99819
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Bifid ureter, Multicystic kidney dysplasia, Nephroblastoma, Enlarged kidney ORPHA:500095
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Wilson Disease
Failure to thrive, Weight loss, Difficulty walking, Increased body weight ORPHA:905
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Gait disturbance, Cachexia ORPHA:2774
Pseudomyxoma Peritonei
Weight loss ORPHA:26790
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Lacticaciduria, Methylmalonic aciduria, Cerebral atrophy OMIM:245400
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ataxia, Neurodegeneration OMIM:618476
Kufor-Rakeb Syndrome
Confusion, Gait disturbance, Lingual dystonia, Bradykinesia, Oculogyric crisis, Blepharospasm, Di... ORPHA:306674
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Lacticaciduria, Left ventricular hypertrophy, Ataxia, Ketonuria OMIM:619167
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Inability to walk, Failure to thrive in infancy, Cachexia OMIM:616801
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Neuropathy, Congenital Hypomyelinating, 3
Dystonia, Cachexia OMIM:618186
Leprechaunism
Hepatomegaly, Long penis, Nephrocalcinosis, Enlarged ovaries, Hypercalciuria, Enlarged kidney ORPHA:508
Chylomicron Retention Disease
Failure to thrive, Impaired proprioception, Abnormality of vitamin metabolism ORPHA:71
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Ketonuria, Renal steatosis, Cerebral atrophy OMIM:261680
Pancreatic Triacylglycerol Lipase Deficiency
Low levels of vitamin A, Low levels of vitamin K, Weight loss, Low levels of vitamin E, Low level... ORPHA:309031
Amyotrophic Lateral Sclerosis
Neurodegeneration, Amyotrophic lateral sclerosis, Motor neuron atrophy ORPHA:803
Trichinellosis
Lethargy, Confusion, Excessive daytime somnolence, Reduced consciousness/confusion ORPHA:863
Genetic Transient Congenital Hypothyroidism
Lethargy ORPHA:226316
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Renal hypoplasia, Hepatomegaly, Ketonuria OMIM:619053
Gm1 Gangliosidosis
Dystonia, Gait disturbance, Failure to thrive, Weight loss, Ataxia, Generalized dystonia, Unstead... ORPHA:354
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Neurodegeneration, Splenomegaly, Urinary glycosaminoglycan excretion, Dermatan sulf... OMIM:309900
Mcdonough Syndrome
Cachexia ORPHA:2471
Hereditary Late-Onset Parkinson Disease
Dystonia, Weight loss, Shuffling gait, Bradykinesia, Akinesia ORPHA:411602
Bone Dysplasia, Lethal Holmgren Type
Failure to thrive, Weight loss ORPHA:1842
Neurodegeneration With Brain Iron Accumulation 4
Tremor, Ataxia, Cerebellar atrophy, Neurodegeneration OMIM:614298
Amoebiasis Due To Free-Living Amoebae
Ataxia, Coma, Loss of consciousness, Confusion, Lethargy ORPHA:68
Biotinidase Deficiency
Ataxia, Lethargy ORPHA:79241
Bullous Pemphigoid
Weight loss ORPHA:703
Osteosarcoma
Weight loss ORPHA:668
Ebola Hemorrhagic Fever
Lethargy ORPHA:319218
Cap Polyposis
Weight loss ORPHA:160148
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Secondary Short Bowel Syndrome
Failure to thrive, Weight loss, Abnormality of vitamin metabolism ORPHA:95427
Combined Oxidative Phosphorylation Defect Type 29
Global brain atrophy, Diffuse cerebellar atrophy, Axonal degeneration, Neurodegeneration ORPHA:478029
Developmental And Epileptic Encephalopathy 50
Abnormal glycosylation, Broad-based gait OMIM:616457
Peritoneal Cystic Mesothelioma
Weight loss ORPHA:168816
Rhabdoid Tumor
Weight loss ORPHA:69077
Complete Atrioventricular Septal Defect
Failure to thrive, Lethargy ORPHA:1329
Cholera
Loss of consciousness, Lethargy ORPHA:173
Hereditary Fructose Intolerance
Coma, Lethargy ORPHA:469
Glycine Encephalopathy
Lethargy ORPHA:407
Thymic Carcinoma
Weight loss ORPHA:99868
Meacham Syndrome
Horseshoe kidney, Enlarged kidney OMIM:608978
Hypothyroidism Due To Tsh Receptor Mutations
Lethargy ORPHA:90673
Mitochondrial Complex I Deficiency, Nuclear Type 1
Failure to thrive, Ataxia, Coma, Lethargy OMIM:252010
Leigh Syndrome
Athetosis, Ethylmalonic aciduria, Cerebellar atrophy, Generalized aminoaciduria, Renal tubular dy... ORPHA:506
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss OMIM:613239
Malignant Peritoneal Mesothelioma
Weight loss ORPHA:168811
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss OMIM:188580
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Histiocytoid Cardiomyopathy
Failure to thrive, Drowsiness, Loss of consciousness, Lethargy ORPHA:137675
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Visceral Steatosis, Congenital
Coma, Lethargy OMIM:228100
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Weight loss, Cachexia ORPHA:1979
Xfe Progeroid Syndrome
Cachexia OMIM:610965
Immunodeficiency 27A
Weight loss OMIM:209950
Acquired Hypertrichosis Lanuginosa
Weight loss ORPHA:2221
Benign Recurrent Intrahepatic Cholestasis
Weight loss ORPHA:65682
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Neurodegeneration, Splenomegaly, Urinary glycosaminoglycan excretion, Dermatan sulf... OMIM:253220
Posterior Urethral Valve
Lethargy ORPHA:93110
Familial Colorectal Cancer Type X
Attention deficit hyperactivity disorder, Gait disturbance, Weight loss, Paresthesia ORPHA:440437
Desmoplastic Small Round Cell Tumor
Weight loss, Cachexia ORPHA:83469
Pineoblastoma
Lethargy, Reduced consciousness/confusion ORPHA:251909
Glutaryl-Coa Dehydrogenase Deficiency
Athetosis, Chorea, Glutaric aciduria, Tremor, Ataxia, Pallidal degeneration, Chronic kidney disease ORPHA:25
Lynch Syndrome
Attention deficit hyperactivity disorder, Gait disturbance, Weight loss, Paresthesia ORPHA:144
Chediak-Higashi Syndrome
Hepatomegaly, Neurodegeneration, Splenomegaly, Tremor, Ataxia OMIM:214500
Fanconi-Bickel Syndrome
Failure to thrive, Impairment of galactose metabolism OMIM:227810
Kaposi Sarcoma
Weight loss ORPHA:33276
Pemphigus Vulgaris
Weight loss ORPHA:704
Primary Intestinal Lymphangiectasia
Weight loss, Abnormality of vitamin metabolism, Low levels of vitamin D ORPHA:90362
Renpenning Syndrome
Cachexia ORPHA:3242
Neurodegeneration With Brain Iron Accumulation 1
Cerebral degeneration, Choreoathetosis, Global brain atrophy, Neurodegeneration, Tremor, Ataxia, ... OMIM:234200
Refractory Celiac Disease
Weight loss, Low serum calcitriol ORPHA:398063
Polymyositis
Gait disturbance, Weight loss ORPHA:732
X-Linked Agammaglobulinemia
Failure to thrive, Weight loss ORPHA:47
8P23.1 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Obesity, Weight loss ORPHA:251071
Chronic Beryllium Disease
Weight loss ORPHA:133
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Non-Functioning Paraganglioma
Weight loss ORPHA:94080
Polyarteritis Nodosa
Weight loss ORPHA:767
Nephroblastoma
Weight loss ORPHA:654
Hurler Syndrome
Hepatomegaly, Neurodegeneration, Splenomegaly, Hepatosplenomegaly, Urinary glycosaminoglycan excr... OMIM:607014
Leishmaniasis
Weight loss ORPHA:507
Peripheral Primitive Neuroectodermal Tumor
Torticollis, Weight loss, Somatic sensory dysfunction ORPHA:370348
Amish Lethal Microcephaly
Hepatomegaly, Organic aciduria ORPHA:99742
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Ataxia, Weight loss, Coma ORPHA:99885
Majeed Syndrome
Failure to thrive, Weight loss, Cachexia ORPHA:77297
Multiple Acyl-Coa Dehydrogenase Deficiency
Ethylmalonic aciduria, Hepatomegaly, Lacticaciduria, Glutaric aciduria, Polycystic kidney dysplas... ORPHA:26791
Exercise-Induced Malignant Hyperthermia
Ataxia, Delirium, Confusion, Lethargy ORPHA:466650
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
Solitary Fibrous Tumor/Hemangiopericytoma
Weight loss, Loss of consciousness ORPHA:2126
Simpson-Golabi-Behmel Syndrome, Type 1
Hypospadias, Hepatomegaly, Hydronephrosis, Right ventricular hypertrophy, Renal cyst, Splenomegal... OMIM:312870
Ring Chromosome 10 Syndrome
Cachexia ORPHA:1438