banner
Genes Phenotypes Help, News, Blog

Gene: Gcdh MGI:104541

Log in to follow

Gene Summary

Name:
glutaryl-Coenzyme A dehydrogenase
Synonyms:
D17825

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased heart left ventricle size Gcdhtm2b(EUCOMM)Hmgu HOM Early adult 1.37×10-07
preweaning lethality, incomplete penetrance Gcdhtm2b(EUCOMM)Hmgu HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric lymph node
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vas deferens Unavailable
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

View images
X-ray

XRay Images Skull Lateral Orientation

13 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

13 Images

View images
X-ray

XRay Images Forepaw

13 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

View images
Adult LacZ

LacZ Images Wholemount

4 Images

View 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.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Glutaric Acidemia I
Hepatomegaly, Ketonuria, Glutaric aciduria, Opisthotonus, Choreoathetosis, Dystonia OMIM:231670
Glutaryl-Coa Dehydrogenase Deficiency
Pallidal degeneration, Dystonia, Ataxia, Tremor, Glutaric aciduria, Chorea, Chronic kidney diseas... ORPHA:25

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Diaminopentanuria
Neurodegeneration, Hyperlysinuria, Ataxia, Cystinuria OMIM:222350
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... OMIM:617610
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Lethargy, Chorea, Ataxia OMIM:618683
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Lethargy, Failure to thrive, Gait disturbance ORPHA:79283
Homocystinuria Without Methylmalonic Aciduria
Lethargy, Failure to thrive, Ataxia ORPHA:622
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Developmental And Epileptic Encephalopathy 92
Inability to walk, Lethargy, Ataxia, Difficulty walking OMIM:617829
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lethargy, Difficulty walking, Distal sensory impairment OMIM:613710
Huntington Disease-Like 2
Chorea, Weight loss, Bradykinesia, Depression, Apathy, Inertia OMIM:606438
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Recessive
Abnormal glycosylation, Failure to thrive OMIM:615596
Fructosuria, Essential
Impairment of fructose metabolism OMIM:229800
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Immunodeficiency, Common Variable, 6
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... OMIM:613496
Methylmalonic Acidemia With Homocystinuria
Lethargy, Failure to thrive, Gait disturbance ORPHA:26
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis
Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia OMIM:620374
Developmental And Epileptic Encephalopathy 40
Choreoathetosis, Lethargy, Small for gestational age OMIM:617065
Glut1 Deficiency Syndrome 1
Choreoathetosis, Lethargy, Paroxysmal lethargy, Ataxia OMIM:606777
Hyperoxaluria, Primary, Type Ii
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria OMIM:260000
Primary Hyperoxaluria Type 3
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... ORPHA:93600
Primary Hyperoxaluria Type 2
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... ORPHA:93599
Hypothyroidism, Congenital, Nongoitrous, 7
Lethargy OMIM:618573
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Ataxia, Cerebral atrophy, Neurodegeneration OMIM:610951
Hereditary Central Diabetes Insipidus
Lethargy, Weight loss ORPHA:30925
Central Neurocytoma
Pain insensitivity, Ataxia, Depression, Paresthesia, Lethargy ORPHA:73256
Tyrosinemia Type 2
Ataxia, Abnormality of amino acid metabolism ORPHA:28378
Mitochondrial Complex I Deficiency, Nuclear Type 3
Lethargy, Ataxia OMIM:618224
Nephrolithiasis, Calcium Oxalate, 1
Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit... OMIM:167030
Cerebral Creatine Deficiency Syndrome 3
Organic aciduria OMIM:612718
Nephronophthisis 16
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... OMIM:615382
Central Diabetes Insipidus
Lethargy, Failure to thrive, Weight loss, Depression ORPHA:178029
Huntington Disease-Like 2
Chorea, Gait disturbance, Weight loss ORPHA:98934
Riboflavin Deficiency
Lethargy, Low levels of vitamin B2 OMIM:615026
Hyperoxaluria, Primary, Type Iii
Hyperoxaluria, Calcium oxalate nephrolithiasis OMIM:613616
Juvenile Huntington Disease
Broad-based gait, Ataxia, Chorea, Gait ataxia, Bradykinesia, Progressive cerebellar ataxia, Depre... ORPHA:248111
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Methylmalonic acidemia, Decreased methylcobalamin, Gait disturbance, Lethargy, Failure to thrive OMIM:236270
Fructose And Galactose Intolerance
Fructose intolerance, Galactose intolerance OMIM:229500
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Failure to thrive OMIM:274270
Urocanase Deficiency
Ataxia, Urocanic aciduria, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor OMIM:276880
Cystinuria
Abnormality of amino acid metabolism ORPHA:214
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Ataxia, Abnormality of amino acid metabolism, Cachexia ORPHA:220295
Cystinuria
Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias... OMIM:220100
Hepatorenocardiac Degenerative Fibrosis
Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced ... OMIM:619902
Dibasic Amino Aciduria I
Dibasicaminoaciduria, Argininuria, Hyperlysinuria, Ornithinuria OMIM:222690
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Decreased circulating vitamin E concentration, Bradykinesia, Dysdiadochokinesis, Gait disturbance... ORPHA:309854
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Lethargy OMIM:617900
N-Acetylglutamate Synthase Deficiency
Lethargy, Failure to thrive OMIM:237310
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Ataxia, Dysmetria, Truncal ataxia, Lethargy, Failure to thrive OMIM:250620
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Iminoglycinuria
Hydroxyprolinuria, Hyperglycinuria, Prolinuria OMIM:242600
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Cerebellar atrophy, Ataxia, Urinary incontinence, Atrophy/Degeneration affecting the brainstem, D... OMIM:612319
Aa Amyloidosis
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,... ORPHA:85445
Vitamin B12-Responsive Methylmalonic Acidemia
Lethargy, Failure to thrive ORPHA:28
Classic Glucose Transporter Type 1 Deficiency Syndrome
Choreoathetosis, Lethargy, Chorea, Ataxia ORPHA:71277
Chronic Hiccup
Weight loss, Depression ORPHA:396
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Spinocerebellar Ataxia 48
Ataxia, Cachexia, Chorea, Dysmetria, Depression, Gait ataxia OMIM:618093
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Splenomegaly, Hepatomegaly, Enlarged kidney OMIM:615285
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo... OMIM:602088
Immunodeficiency 83, Susceptibility To Viral Infections
Lethargy OMIM:613002
Pulmonary Blastoma
Weight loss ORPHA:64741
Febrile Infection-Related Epilepsy Syndrome
Lethargy ORPHA:163703
Short Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy, Failure to thrive ORPHA:26792
Lethal Infantile Mitochondrial Myopathy
Lethargy ORPHA:254857
Hypercalcemia, Infantile, 1
Lethargy, Failure to thrive, Weight loss OMIM:143880
Tuberculosis
Weight loss ORPHA:3389
Gaba-Transaminase Deficiency
Lethargy OMIM:613163
Early Myoclonic Encephalopathy
Lethargy ORPHA:1935
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Impaired vibratory sensation, Dysmetria, Dysdiadochokinesis, Truncal ataxia, Lethargy, Failure to... OMIM:238970
Glycine Encephalopathy 1
Lethargy OMIM:605899
Mitochondrial Complex I Deficiency, Nuclear Type 6
Lethargy, Failure to thrive, Ataxia OMIM:618228
Galactose Epimerase Deficiency
Impairment of galactose metabolism, Weight loss ORPHA:79238
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Ataxia, Hand tremor, Neurodegeneration, Dystonia OMIM:615889
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... OMIM:308990
Hyperlysinuria With Hyperammonemia
Lethargy OMIM:238750
Primary Hyperoxaluria Type 1
Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 chronic kidn... ORPHA:93598
Combined Oxidative Phosphorylation Deficiency 2
Lethargy, Small for gestational age OMIM:610498
Susac Syndrome
Lethargy, Somatic sensory dysfunction, Apathy, Gait ataxia ORPHA:838
Isaacs Syndrome
Distal sensory impairment, Weight loss ORPHA:84142
Dihydrolipoamide Dehydrogenase Deficiency
Lethargy, Ataxia OMIM:246900
Severe Canavan Disease
Inability to walk, Lethargy ORPHA:314911
Autosomal Recessive Dopa-Responsive Dystonia
Bradykinesia, Lethargy, Ataxia, Gait ataxia ORPHA:101150
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Lethargy, Failure to thrive, Ataxia OMIM:237300
Pyruvate Dehydrogenase E1-Alpha Deficiency
Choreoathetosis, Lethargy, Episodic ataxia, Small for gestational age OMIM:312170
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ... ORPHA:730
Idiopathic Intracranial Hypertension
Lethargy, Obesity, Depression ORPHA:238624
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebellar atrophy, Ataxia, Chorea, Cerebral atrophy, Neurodegeneration, Dystonia, Cerebral corti... OMIM:617672
Paternal Uniparental Disomy Of Chromosome 1
Pain insensitivity, Membranoproliferative glomerulonephritis, Proteinuria, Brain atrophy, Macrosc... ORPHA:251004
Glutaric Acidemia Type 3
Lethargy, Failure to thrive ORPHA:35706
Meckel Syndrome, Type 8
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:613885
Mitochondrial Complex I Deficiency, Nuclear Type 4
Lethargy, Ataxia OMIM:618225
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Lethargy, Failure to thrive OMIM:613561
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Spastic ataxia, Methylmalonic acidemia, Decreased adenosylcobalamin, Decreased methylcobalamin, L... OMIM:277410
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Cerebellar atrophy, Neurodegeneration, Gait ataxia ORPHA:438134
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Dicarboxylic Aminoaciduria
Aminoaciduria, Aspartic aciduria, Nephrolithiasis OMIM:222730
Mitochondrial Complex I Deficiency, Nuclear Type 5
Lethargy, Failure to thrive, Ataxia OMIM:618226
Holocarboxylase Synthetase Deficiency
Lethargy, Ataxia, Weight loss ORPHA:79242
Citrullinemia Type I
Lethargy, Failure to thrive, Ataxia ORPHA:247525
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Lethargy, Increased body weight ORPHA:276608
Pyruvate Dehydrogenase E3 Deficiency
Lethargy, Failure to thrive, Ataxia ORPHA:2394
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney OMIM:618272
Perry Syndrome
Weight loss, Apathy, Depression ORPHA:178509
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Cyclic Vomiting Syndrome
Lethargy, Ataxia OMIM:500007
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Lethargy, Failure to thrive in infancy OMIM:619064
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Choreoathetosis, Lethargy, Failure to thrive ORPHA:79312
Leukoencephalopathy With Vanishing White Matter 1
Lethargy, Unsteady gait, Gait disturbance OMIM:603896
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Choreoathetosis, Lethargy, Chorea ORPHA:289916
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Decreased adenosylcobalamin, Decreased methylcobalamin, Lethargy, Failure... OMIM:614857
Classic Galactosemia
Ataxia, Depression, Gait disturbance, Gait imbalance, Lethargy, Low levels of vitamin D ORPHA:79239
Hyperphenylalaninemia, Bh4-Deficient, B
Choreoathetosis, Lethargy OMIM:233910
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Splenomegal... OMIM:263200
Spastic Paraplegia 79B, Autosomal Recessive
Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Postural tremor, Head titubation, Impai... OMIM:615491
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy OMIM:610006
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Lethargy, Failure to thrive ORPHA:2089
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Idiopathic Achalasia
Weight loss ORPHA:930
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Ataxia, Cachexia, Weight loss OMIM:613662
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Weight loss, Failure to thrive, Cachexia, Gait ataxia OMIM:612075
Thyroid Dyshormonogenesis 1
Lethargy OMIM:274400
Benign Samaritan Congenital Myopathy
Lethargy ORPHA:324581
Pontocerebellar Hypoplasia, Type 6
Lethargy, Failure to thrive OMIM:611523
Thiamine-Responsive Megaloblastic Anemia Syndrome
Lethargy, Paresthesia ORPHA:49827
Mitochondrial Complex I Deficiency, Nuclear Type 26
Cerebellar atrophy, Lacticaciduria, Cerebral atrophy, Choreoathetosis, Dystonia OMIM:618247
Galactose Mutarotase Deficiency
Failure to thrive, Impairment of galactose metabolism ORPHA:570422
Huntington Disease
Inability to walk, Chorea, Depression, Bradykinesia, Weight loss, Gait disturbance, Gait imbalanc... ORPHA:399
Crigler-Najjar Syndrome
Lethargy ORPHA:205
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Ataxia, Gait disturbance, Loss of ambulation, Lethargy, Failure to thrive OMIM:615838
Dihydropyrimidinase Deficiency
Lethargy OMIM:222748
Transcobalamin Ii Deficiency
Lethargy, Failure to thrive, Ataxia, Abnormal blood folate concentration OMIM:275350
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Cerebellar atrophy, Resting tremor, Ataxia, Tremor, Limb ataxia, Dysmetria, Gait ataxia, Cerebral... OMIM:615157
Hyperinsulinism Due To Hnf1A Deficiency
Lethargy, Small for gestational age, Large for gestational age ORPHA:324575
Perry Syndrome
Akinesia, Depression, Bradykinesia, Weight loss, Apathy, Short stepped shuffling gait OMIM:168605
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... OMIM:613092
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy, Ataxia, Cachexia ORPHA:42
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Writer's cramp, Tremor, Chorea, Choreoathetosis, Blepharospasm, Neurodegeneration, Dyston... OMIM:606159
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Vitamin B12-Unresponsive Methylmalonic Acidemia
Choreoathetosis, Lethargy, Ataxia ORPHA:27
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Lethargy, Gait imbalance OMIM:618120
Hemochromatosis, Type 2A
Lethargy OMIM:602390
Primary Hyperoxaluria
Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic kidney disease, Stage 5 chronic... ORPHA:416
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Lethargy, Failure to thrive, Ataxia ORPHA:927
Huntington Disease-Like 1
Chorea, Dysmetria, Depression, Bradykinesia, Gait ataxia, Weight loss, Gait disturbance ORPHA:157941
Hjv Or Hamp-Related Hemochromatosis
Lethargy ORPHA:79230
Hyperinsulinism Due To Ucp2 Deficiency
Lethargy, Large for gestational age ORPHA:276556
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Proteinuria, Splenomegaly, Nephrotic syndrome, Focal segmental glomerulosclerosis, ... OMIM:617303
Methylmalonic Acidemia With Homocystinuria Type Cblf
Vitamin B12 deficiency, Decreased adenosylcobalamin, Decreased methylcobalamin, Lethargy, Failure... ORPHA:79284
Pyruvate Dehydrogenase Deficiency
Choreoathetosis, Lethargy, Ataxia, Gait disturbance ORPHA:765
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Chorea, Cerebral atrophy, Neurodegeneration, Dystonia ORPHA:309246
Classic Homocystinuria
Abnormality of amino acid metabolism ORPHA:394
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Lethargy, Failure to thrive OMIM:611590
Essential Fructosuria
Impairment of fructose metabolism ORPHA:2056
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Lethargy, Large for gestational age ORPHA:276575
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Lethargy, Failure to thrive, Ataxia OMIM:201470
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Lethargy, Large for gestational age ORPHA:276580
Lipoyltransferase 1 Deficiency
Cerebellar atrophy, Lacticaciduria, Alaninuria, Dystonia, Hyperglutaminuria OMIM:616299
Neurodegeneration With Brain Iron Accumulation 6
Oromandibular dystonia, Neurodegeneration, Dystonia OMIM:615643
Gerstmann-Straussler Disease
Limb ataxia, Depression, Bradykinesia, Gait ataxia, Weight loss, Truncal ataxia OMIM:137440
Methylmalonic Aciduria, Cblb Type
Methylmalonic acidemia, Lethargy, Failure to thrive, Decreased adenosylcobalamin OMIM:251110
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Combined Oxidative Phosphorylation Deficiency 52
Lethargy OMIM:619386
Maple Syrup Urine Disease
Lethargy, Ataxia OMIM:248600
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Hepatomegaly, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic... OMIM:608836
Insulinoma
Abnormality of pain sensation, Lethargy, Paresthesia, Increased body weight ORPHA:97279
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Lethargy, Failure to thrive OMIM:251000
Typhoid
Lethargy, Ataxia ORPHA:99745
Diabetes Mellitus, Permanent Neonatal, 3
Athetosis, Ketonuria, Glycosuria OMIM:618857
Hsd10 Disease, Infantile Type
Diffuse cerebral atrophy, Cardiomegaly, Cerebral atrophy, Choreoathetosis, Frontotemporal cerebra... ORPHA:391428
Mitochondrial Complex I Deficiency, Nuclear Type 9
Lethargy OMIM:618232
Developmental And Epileptic Encephalopathy 41
Inability to walk, Lethargy OMIM:617105
Diaphanospondylodysostosis
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney OMIM:608022
Methylmalonic Aciduria, Cbla Type
Methylmalonic acidemia, Decreased adenosylcobalamin, Lethargy, Abnormal vitamin B12 level, Failur... OMIM:251100
Idiopathic Congenital Hypothyroidism
Lethargy ORPHA:95717
Peroxisome Biogenesis Disorder 1B
Hepatomegaly, Hyperoxaluria, Renal cyst OMIM:601539
Isovaleric Acidemia
Lethargy OMIM:243500
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Methylmalonic acidemia, Small for gestational age, Decreased adenosylcobalamin, Decreased methylc... OMIM:277380
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Ataxia, Cerebral atrophy, Neurodegeneration, Neuronal loss in central nervous... OMIM:256600
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Lethargy, Failure to thrive OMIM:210200
Carnitine Deficiency, Systemic Primary
Lethargy, Failure to thrive OMIM:212140
Mulibrey Nanism
Cachexia ORPHA:2576
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Lethargy OMIM:600649
Morgagni-Stewart-Morel Syndrome
Obesity, Abnormal metabolism, Depression ORPHA:77296
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Adrenoleukodystrophy
Urinary incontinence, Limb ataxia, Neurodegeneration, Truncal ataxia, Urinary bladder sphincter d... OMIM:300100
Alexander Disease Type I
Failure to thrive, Ataxia, Cachexia ORPHA:363717
Infantile Liver Failure Syndrome 2
Lethargy OMIM:616483
Hyperoxaluria, Primary, Type I
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria OMIM:259900
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Cystic renal dysplasia, Enlarged kidney OMIM:615415
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Lethargy, Ataxia OMIM:614299
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Glycogen Storage Disease Ia
Hepatomegaly, Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Enlarged kidney, ... OMIM:232200
Evans Syndrome
Lethargy ORPHA:1959
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Tremor, Cerebral atrophy, Neurodegeneration, Dystonia OMIM:300894
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Lethargy, Failure to thrive, Ataxia OMIM:201100
Isolated Atp Synthase Deficiency
Lethargy, Ataxia ORPHA:254913
Laryngeal Neuroendocrine Tumor
Weight loss ORPHA:100083
Glycogen Storage Disease Ib
Hepatomegaly, Proteinuria, Splenomegaly, Nephrolithiasis, Focal segmental glomerulosclerosis, Enl... OMIM:232220
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... OMIM:194080
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Inability to walk, Lethargy, Chorea, Gait ataxia OMIM:607483
Pyruvate Dehydrogenase Phosphatase Deficiency
Lacticaciduria ORPHA:79246
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Episodic ataxia, Lethargy, Failure to thrive, Ataxia OMIM:311250
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Citrullinemia, Classic
Lethargy, Failure to thrive, Ataxia OMIM:215700
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... OMIM:610805
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... OMIM:134600
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Proteinuria, Heparan sulfate excretion in urine, Hepatosplenomegaly, Nephrotic syndrome, Heavy pr... ORPHA:505248
Propionic Acidemia
Lethargy, Failure to thrive OMIM:606054
Mitochondrial Dna Depletion Syndrome 18
Axonal degeneration, Lacticaciduria OMIM:618811
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Splenomegaly, Hepatomegaly, Recurrent urinary tract infections, Neurodegeneration OMIM:620210
Multifocal Atrial Tachycardia
Lethargy ORPHA:3282
Congenital Disorder Of Glycosylation, Type Ig
Lethargy, Failure to thrive, Small for gestational age, Type I transferrin isoform profile OMIM:607143
Liposarcoma
Paresthesia, Weight loss ORPHA:69078
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Mitochondrial Trifunctional Protein Deficiency 1
Lethargy, Failure to thrive, Small for gestational age OMIM:609015
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Chorea, Cerebral atrophy, Neurodegeneration, Dystonia OMIM:272750
Resistance To Thyrotropin-Releasing Hormone Syndrome
Overweight, Lethargy, Depression ORPHA:99832
Carnitine Palmitoyl Transferase 1A Deficiency
Lethargy ORPHA:156
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Renal insufficiency, Splenomegaly, Stage 5 chronic kidney disease, Ureteral atresia... OMIM:208540
Stt3A-Cdg
Abnormal glycosylation, Failure to thrive ORPHA:370921
Multiple Mitochondrial Dysfunctions Syndrome 1
Lethargy, Failure to thrive OMIM:605711
Oculopharyngodistal Myopathy
Loss of ambulation, Difficulty walking, Weight loss ORPHA:98897
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Lethargy OMIM:201450
Celiac Disease, Susceptibility To, 1
Vitamin B12 deficiency, Ataxia, Weight loss, Depression, Reduced blood folate concentration, Low ... OMIM:212750
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Lethargy, Increased body weight, Large for gestational age ORPHA:263455
Congenital Muscular Dystrophy Due To Lmna Mutation
Gait disturbance, Cachexia ORPHA:157973
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Neurodegeneration With Brain Iron Accumulation 2B
Cerebellar atrophy, Chorea, Dysmetria, Gait ataxia, Cerebral atrophy, Dysdiadochokinesis, Neurode... OMIM:610217
Tyrosinemia, Type I
Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, Renal Fanconi syndrome, Glomer... OMIM:276700
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss ORPHA:86893
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Cerebellar atrophy, Choreoathetosis, Renal tubular acidosis, Organic aciduria, Nonprogressive cer... ORPHA:431361
Methylcobalamin Deficiency Type Cble
Lethargy, Failure to thrive ORPHA:2169
Igg4-Related Kidney Disease
Renal insufficiency, Proteinuria, Renal interstitial immunoglobulin deposits, Urinary bladder inf... ORPHA:449395
Propionic Acidemia
Hepatomegaly, Organic aciduria ORPHA:35
Stt3B-Cdg
Abnormal glycosylation, Failure to thrive ORPHA:370924
Moynahan Syndrome
Cachexia ORPHA:2574
Meningococcal Meningitis
Lethargy, Paresthesia ORPHA:33475
Brown-Vialetto-Van Laere Syndrome 2
Organic aciduria, Ataxia OMIM:614707
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Lethargy, Failure to thrive, Ataxia, Gait disturbance ORPHA:395
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss ORPHA:2198
Medulloblastoma
Ataxia, Dysmetria, Progressive cerebellar ataxia, Lethargy, Cerebellar ataxia associated with qua... ORPHA:616
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Hepatomegaly, Lacticaciduria, Renal hypoplasia, Aminoaciduria, 3-Methylglutaconic aciduria OMIM:604273
Congenital Disorder Of Glycosylation, Type Ix
Abnormal glycosylation, Failure to thrive OMIM:615597
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Methylmalonic acidemia, Decreased adenosylcobalamin, Decreased methylcobalamin, Lethargy, Failure... OMIM:277400
Carnitine Palmitoyltransferase I Deficiency
Lethargy OMIM:255120
Symptomatic Form Of Hfe-Related Hemochromatosis
Lethargy, Apathy, Weight loss ORPHA:465508
Alg9-Cdg
Cerebellar atrophy, Hypoplasia of the bladder, Hepatomegaly, Torticollis, Ureteral hypoplasia, Ce... ORPHA:79328
Familial Thyroid Dyshormonogenesis
Lethargy ORPHA:95716
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Lethargy, Chorea, Ataxia, Gait ataxia OMIM:618321
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Elevated urinary 3-hydroxybutyric acid, Ketonuria OMIM:245050
Argininosuccinic Aciduria
Aminoaciduria, Oroticaciduria, Ataxia ORPHA:23
Classic Hodgkin Lymphoma
Ataxia, Weight loss ORPHA:391
Renal Hypoplasia, Bilateral
Lethargy, Failure to thrive, Small for gestational age ORPHA:97362
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Lethargy OMIM:604377
Christianson Syndrome
Truncal ataxia, Cachexia, Gait ataxia ORPHA:85278
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia OMIM:613091
Necrotizing Enterocolitis
Lethargy, Small for gestational age ORPHA:391673
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Fructose-1,6-Bisphosphatase Deficiency
Lethargy OMIM:229700
Familial Hypoaldosteronism
Lethargy, Failure to thrive ORPHA:427
Argininosuccinic Aciduria
Lethargy, Failure to thrive, Ataxia OMIM:207900
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Cystic renal dysplasia, Enlarged kidney OMIM:200995
Kaposiform Lymphangiomatosis
Splenomegaly, Multiple renal cysts, Enlarged kidney, Hepatosplenomegaly ORPHA:464329
Mitochondrial Complex I Deficiency, Nuclear Type 35
Elevated urinary 4-hydroxybutyric acid, Lacticaciduria OMIM:619003
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical cysts, Nephro... OMIM:130650
Focal Myositis
Weight loss ORPHA:48918
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Tip-toe gait, Gait disturbance, Weight loss ORPHA:216866
Reticular Dysgenesis
Failure to thrive, Weight loss ORPHA:33355
Lymphoid Interstitial Pneumonia
Hepatomegaly, Enlarged kidney ORPHA:79128
Pelizaeus-Merzbacher Disease
Ataxia, Failure to thrive in infancy, Cachexia, Choreoathetosis, Gait disturbance ORPHA:702
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Lacticaciduria OMIM:619063
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ketonuria, Ataxia, Cerebral atrophy, Gait ataxia, Neurodegeneration, Dystonia, Myoglobinuria OMIM:616878
Ogden Syndrome
Lethargy, Shuffling gait ORPHA:276432
Aromatic L-Amino Acid Decarboxylase Deficiency
Choreoathetosis, Lethargy, Athetosis OMIM:608643
Sim1-Related Prader-Willi-Like Syndrome
Impaired temperature sensation, Obesity, Abdominal obesity, Lethargy, Failure to thrive ORPHA:398079
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Impaired vibratory sensation, Progressive cerebellar ataxia, Lethargy, Failure to thrive, Spastic... ORPHA:415
3-Hydroxy-3-Methylglutaric Aciduria
Lethargy, Apathy, Ataxia, Weight loss ORPHA:20
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Lethargy, Failure to thrive OMIM:210210
H Syndrome
Micropenis, Abnormality of the kidney, Enlarged kidney, Hepatosplenomegaly ORPHA:168569
Endocrine-Cerebroosteodysplasia
Hyperechogenic kidneys, Hypospadias, Microphallus, Enlarged kidney OMIM:612651
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Overweight, Lethargy, Small for gestational age, Obesity ORPHA:26793
Mitochondrial Trifunctional Protein Deficiency
Lethargy, Tip-toe gait, Failure to thrive in infancy ORPHA:746
Dengue Fever
Lethargy ORPHA:99828
3-Methylcrotonyl-Coa Carboxylase Deficiency
Organic aciduria ORPHA:6
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Broad-based gait, Ataxia, Impaired distal proprioception, Hypoesthesia, Impaired distal vibration... OMIM:607459
Autosomal Dominant Progressive External Ophthalmoplegia
Bipolar affective disorder, Ataxia, Gait ataxia, Bradykinesia, Depression, Gait disturbance, Leth... ORPHA:254892
Wilson Disease
Increased body weight, Weight loss, Depression, Difficulty walking, Failure to thrive ORPHA:905
Mu-Heavy Chain Disease
Weight loss ORPHA:100024
Isolated Succinate-Coq Reductase Deficiency
Loss of ambulation, Ataxia, Weight loss ORPHA:3208
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Cardiomegaly, Splenomegaly, Mucopolysacchariduria, Cerebral cortical atrophy, Enlar... OMIM:252500
Flynn-Aird Syndrome
Ataxia, Cachexia, Impaired pain sensation ORPHA:2047
Isolated Complex I Deficiency
Lethargy, Failure to thrive, Ataxia ORPHA:2609
Scrub Typhus
Lethargy ORPHA:83317
Hyperparathyroidism, Transient Neonatal
Enlarged kidney, Unilateral renal agenesis OMIM:618188
Riboflavin Transporter Deficiency
Ataxia, Cachexia ORPHA:97229
Multiple System Atrophy 1, Susceptibility To
Ataxia, Urinary incontinence, Tremor, Urinary urgency, Neurodegeneration OMIM:146500
Hereditary Late-Onset Parkinson Disease
Akinesia, Depression, Bradykinesia, Weight loss, Apathy, Shuffling gait ORPHA:411602
Citrullinemia Type Ii
Lethargy, Mania, Decreased body mass index ORPHA:247585
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Lethargy OMIM:201475
Aspartylglucosaminuria
Abnormality of amino acid metabolism ORPHA:93
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Ataxia, Cachexia ORPHA:1933
Monocarboxylate Transporter 1 Deficiency
Ketonuria OMIM:616095
Combined Oxidative Phosphorylation Deficiency 24
Cerebellar atrophy, Focal segmental glomerulosclerosis, Neuronal loss in central nervous system, ... OMIM:616239
Pseudo-Torch Syndrome 2
Lethargy OMIM:617397
Attrv30M Amyloidosis
Weight loss ORPHA:85447
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Increased level of hippuric acid in urine, Glutaric aciduria, 3-Methylglutaric acid... OMIM:246450
Mast Cell Sarcoma
Weight loss ORPHA:66661
Biotinidase Deficiency
Lethargy, Ataxia OMIM:253260
Erythrokeratodermia Variabilis
Weight loss ORPHA:317
X-Linked Creatine Transporter Deficiency
Athetosis, Chorea, Ataxia, Cachexia ORPHA:52503
Cerebrooculofacioskeletal Syndrome 1
Cerebellar atrophy, Diffuse cerebral atrophy, Neurodegeneration, Brain atrophy OMIM:214150
Follicular Lymphoma
Weight loss ORPHA:545
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Nephrocalcinosis, Enl... ORPHA:79259
Eosinophilic Fasciitis
Paresthesia, Weight loss ORPHA:3165
Combined Oxidative Phosphorylation Deficiency 11
Lethargy OMIM:614922
Neurodegeneration With Brain Iron Accumulation 4
Cerebellar atrophy, Generalized dystonia, Ataxia, Tremor, Neurodegeneration, Dystonia, Oromandibu... OMIM:614298
Fatal Familial Insomnia
Ataxia, Weight loss OMIM:600072
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Ketonuria, Ataxia, Lacticaciduria, Dystonia, Left ventricular hypertrophy OMIM:619167
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy OMIM:212138
Hirschsprung Disease
Failure to thrive in infancy, Weight loss ORPHA:388
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Lethargy, Failure to thrive ORPHA:71212
Krabbe Disease
Diffuse cerebral atrophy, Neurodegeneration OMIM:245200
Late-Onset Isolated Acth Deficiency
Lethargy, Failure to thrive, Weight loss ORPHA:199299
Cirrhosis, Familial
Lethargy OMIM:215600
Magel2-Related Prader-Willi-Like Syndrome
Impaired temperature sensation, Increased body weight, Abdominal obesity, Lethargy, Failure to th... ORPHA:398069
Pleural Mesothelioma
Weight loss ORPHA:50251
Autosomal Recessive Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Splenomegaly, Oliguria, Stage 5 chronic ... ORPHA:731
Staphylococcal Necrotizing Pneumonia
Lethargy ORPHA:36238
Allergic Bronchopulmonary Aspergillosis
Weight loss ORPHA:1164
Imerslund-Gräsbeck Syndrome
Vitamin B12 deficiency, Abnormal blood 5-methyltetrahydrofolate level, Weight loss, Malabsorption... ORPHA:35858
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Pfapa Syndrome
Weight loss ORPHA:42642
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Enlarged kidney ORPHA:276280
Beckwith-Wiedemann Syndrome
Ureteral duplication, Hepatomegaly, Cardiomegaly, Splenomegaly, Nephrolithiasis, Hypercalciuria, ... ORPHA:116
Slc35A2-Cdg
Abnormal glycosylation, Failure to thrive in infancy, Inability to walk, Decreased sialylation of... ORPHA:356961
Glutaric Acidemia I
Hepatomegaly, Ketonuria, Glutaric aciduria, Opisthotonus, Choreoathetosis, Dystonia OMIM:231670
Combined Oxidative Phosphorylation Deficiency 36
Aciduria OMIM:617950
Pseudomyxoma Peritonei
Weight loss ORPHA:26790
Oromandibular Dystonia
Weight loss, Depression ORPHA:93958
Holocarboxylase Synthetase Deficiency
Lethargy OMIM:253270
D-Lactic Aciduria With Gout
Lacticaciduria OMIM:245450
Isolated Thyroid-Stimulating Hormone Deficiency
Lethargy, Failure to thrive, Depression ORPHA:90674
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Mitochondrial Neurogastrointestinal Encephalomyopathy
Paresthesia, Cachexia, Weight loss ORPHA:298
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Inability to walk, Failure to thrive in infancy, Cachexia OMIM:616801
Ogden Syndrome
Global glomerulosclerosis, Torticollis, Cardiomegaly, Cerebral atrophy, Polycystic kidney dysplas... OMIM:300855
Congenital Disorder Of Glycosylation, Type Iio
Abnormal glycosylation OMIM:616828
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Lethargy, Failure to thrive OMIM:620233
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Lethargy, Failure to thrive, Ataxia ORPHA:79282
Genetic Transient Congenital Hypothyroidism
Lethargy ORPHA:226316
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy ORPHA:159
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Lacticaciduria, Elevated urine acetoacetic aci... OMIM:615751
Peroxisome Biogenesis Disorder 5A (Zellweger)
Lethargy, Failure to thrive, Athetosis, Small for gestational age OMIM:614866
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Nephroblastoma, Bifid ureter, Enlarged kidney ORPHA:500095
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Ataxia-Telangiectasia-Like Disorder 2
Cerebellar atrophy, Ataxia, Neurodegeneration OMIM:615919
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Ataxia, Weight loss OMIM:256700
Pancreatic Triacylglycerol Lipase Deficiency
Decreased circulating vitamin E concentration, Weight loss, Reduced circulating vitamin A concent... ORPHA:309031
Amyotrophic Lateral Sclerosis
Motor neuron atrophy, Amyotrophic lateral sclerosis, Neurodegeneration ORPHA:803
Rett Syndrome
Gait apraxia, Truncal ataxia, Cachexia, Gait ataxia OMIM:312750
Juvenile Amyotrophic Lateral Sclerosis
Ataxia, Cachexia, Inability to walk, Chorea, Tip-toe gait, Difficulty walking ORPHA:300605
Glossopharyngeal Neuralgia
Dysesthesia, Weight loss, Depression ORPHA:221098
Neurodegeneration And Seizures Due To Copper Transport Defect
Lethargy OMIM:620306
Biotinidase Deficiency
Lethargy, Ataxia ORPHA:79241
Leprechaunism
Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Nephrocalcinosis, Enlarged kidney ORPHA:508
Mcdonough Syndrome
Cachexia ORPHA:2471
Encephalitis Lethargica
Lethargy ORPHA:83600
Cap Polyposis
Weight loss ORPHA:160148
Meacham Syndrome
Enlarged kidney, Horseshoe kidney OMIM:608978
Secondary Short Bowel Syndrome
Failure to thrive, Abnormality of vitamin metabolism, Weight loss ORPHA:95427
Helsmoortel-Van Der Aa Syndrome
Recurrent urinary tract infections, Enlarged kidney, Enuresis nocturna OMIM:615873
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Dermatan sulfate excretion in uri... OMIM:309900
Bullous Pemphigoid
Weight loss ORPHA:703
Ebola Hemorrhagic Fever
Lethargy ORPHA:319218
Combined Oxidative Phosphorylation Defect Type 29
Diffuse cerebellar atrophy, Axonal degeneration, Neurodegeneration, Global brain atrophy ORPHA:478029
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Gait disturbance, Cachexia ORPHA:2774
Bone Dysplasia, Lethal Holmgren Type
Failure to thrive, Weight loss ORPHA:1842
Glycogen Storage Disease Of Heart, Lethal Congenital
Enlarged kidney, Cardiomegaly OMIM:261740
Glycine Encephalopathy
Lethargy ORPHA:407
Peritoneal Cystic Mesothelioma
Weight loss ORPHA:168816
Fructose Intolerance, Hereditary
Lethargy, Failure to thrive, Fructose intolerance OMIM:229600
Congenital Disorder Of Glycosylation, Type Iiq
Abnormal glycosylation OMIM:617395
Graves Disease, Susceptibility To, 1
Weight loss OMIM:275000
Complete Atrioventricular Septal Defect
Lethargy, Failure to thrive ORPHA:1329
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Lethargy, Failure to thrive OMIM:617156
Osteosarcoma
Weight loss ORPHA:668
Leigh Syndrome
Cerebellar atrophy, Dystonia, Ataxia, Chorea, Lacticaciduria, Methylmalonic aciduria, Generalized... ORPHA:506
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Renal agenesis, Cardiomegaly, Horseshoe kidney, Enlarged kidney OMIM:306955
Rhabdoid Tumor
Weight loss ORPHA:69077
Chylomicron Retention Disease
Failure to thrive, Impaired proprioception, Abnormality of vitamin metabolism ORPHA:71
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Thymic Carcinoma
Weight loss ORPHA:99868
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Malignant Peritoneal Mesothelioma
Weight loss ORPHA:168811
Pyruvate Dehydrogenase E2 Deficiency
Neurodegeneration, Paroxysmal dystonia, Arm dystonia ORPHA:79244
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss OMIM:188580
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss ORPHA:1979
Beta-Ketothiolase Deficiency
Apathy, Ataxia, Weight loss ORPHA:134
Hypothyroidism Due To Tsh Receptor Mutations
Lethargy ORPHA:90673
Acquired Hypertrichosis Lanuginosa
Weight loss ORPHA:2221
Developmental And Epileptic Encephalopathy 50
Abnormal glycosylation, Broad-based gait, Failure to thrive OMIM:616457
Immunodeficiency 27A
Weight loss OMIM:209950
Mitochondrial Complex I Deficiency, Nuclear Type 1
Lethargy, Failure to thrive, Ataxia OMIM:252010
Desmoplastic Small Round Cell Tumor
Cachexia, Weight loss ORPHA:83469
Neurodegeneration With Brain Iron Accumulation 1
Ataxia, Urinary incontinence, Tremor, Choreoathetosis, Blepharospasm, Neurodegeneration, Dystonia... OMIM:234200
Pearson Marrow-Pancreas Syndrome
Lethargy, Failure to thrive, Small for gestational age OMIM:557000
Lynch Syndrome
Weight loss, Gait disturbance, Paresthesia, Depression ORPHA:144
Kufor-Rakeb Syndrome
Bradykinesia, Apathy, Gait disturbance, Difficulty walking, Lethargy ORPHA:306674
Posterior Urethral Valve
Lethargy ORPHA:93110
Gm1 Gangliosidosis
Ataxia, Unsteady gait, Weight loss, Gait disturbance, Failure to thrive ORPHA:354
Pemphigus Vulgaris
Weight loss ORPHA:704
Benign Recurrent Intrahepatic Cholestasis
Weight loss ORPHA:65682
Cholera
Lethargy ORPHA:173
Glycerol Kinase Deficiency
Lethargy, Small for gestational age OMIM:307030
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss OMIM:613239
Takayasu Arteritis
Weight loss ORPHA:3287
Giant Cell Arteritis
Weight loss, Ataxia, Paresthesia, Depression ORPHA:397
Trichinellosis
Lethargy, Apathy ORPHA:863
Liver Failure, Infantile, Transient
3-hydroxydicarboxylic aciduria, Hepatomegaly, Dicarboxylic aciduria, Lacticaciduria OMIM:613070
Primary Intestinal Lymphangiectasia
Low levels of vitamin D, Abnormality of vitamin metabolism, Weight loss ORPHA:90362
Chronic Beryllium Disease
Weight loss ORPHA:133
Renpenning Syndrome
Cachexia ORPHA:3242
Familial Colorectal Cancer Type X
Weight loss, Gait disturbance, Paresthesia, Depression ORPHA:440437
Hurler Syndrome
Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Dermatan sulfate excretion in uri... OMIM:607014
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebellar atrophy, Hepatomegaly, Ataxia, Aciduria, Cerebral cortical neurodegeneration, Cerebral... OMIM:203700
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Severe failure to thrive, Hyperesthesia, Cachexia ORPHA:371364
Non-Functioning Paraganglioma
Weight loss ORPHA:94080
Refractory Celiac Disease
Low serum calcitriol, Weight loss ORPHA:398063
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
X-Linked Agammaglobulinemia
Failure to thrive, Weight loss ORPHA:47
Chediak-Higashi Syndrome
Hepatomegaly, Ataxia, Tremor, Splenomegaly, Neurodegeneration OMIM:214500
Hereditary Fructose Intolerance
Lethargy ORPHA:469
Kaposi Sarcoma
Weight loss ORPHA:33276
Nephroblastoma
Weight loss ORPHA:654
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Dermatan sulfate excretion in uri... OMIM:253220
Leishmaniasis
Weight loss ORPHA:507
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Neurodegeneration, Ataxia OMIM:618476
Majeed Syndrome
Failure to thrive, Cachexia, Weight loss ORPHA:77297
Polyarteritis Nodosa
Weight loss ORPHA:767
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss ORPHA:411703
Histiocytoid Cardiomyopathy
Lethargy, Failure to thrive ORPHA:137675
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
Amoebiasis Due To Free-Living Amoebae
Lethargy, Ataxia ORPHA:68
Glutaryl-Coa Dehydrogenase Deficiency
Pallidal degeneration, Dystonia, Ataxia, Tremor, Glutaric aciduria, Chorea, Chronic kidney diseas... ORPHA:25
Whipple Disease
Ataxia, Cachexia, Depression ORPHA:3452
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Weight loss ORPHA:171876
Deafness-Lymphedema-Leukemia Syndrome
Weight loss ORPHA:3226
Ring Chromosome 10 Syndrome
Cachexia ORPHA:1438
Semilobar Holoprosencephaly
Inability to walk, Depression, Apathy, Lethargy, Failure to thrive ORPHA:220386
Alobar Holoprosencephaly
Inability to walk, Depression, Apathy, Lethargy, Failure to thrive ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Inability to walk, Depression, Apathy, Lethargy, Failure to thrive ORPHA:93926
Lobar Holoprosencephaly
Inability to walk, Depression, Apathy, Lethargy, Failure to thrive ORPHA:93924
Anaplastic Thyroid Carcinoma
Weight loss ORPHA:142
Polymyositis
Gait disturbance, Weight loss ORPHA:732
Tetrasomy 12P
Cachexia ORPHA:884
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Yao Syndrome
Weight loss OMIM:617321
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Hypospadias, Splenomegaly, Renal cyst, Duplication of renal pelvis, Nephroblastoma,... OMIM:312870
Cryptogenic Organizing Pneumonia
Weight loss ORPHA:1302
Laryngotracheoesophageal Cleft Type 4
Cachexia ORPHA:93941
Cerebral Visual Impairment
Central nervous system degeneration, Neurodegeneration ORPHA:447788
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Cachexia, Hypoesthesia, Distal sensory impairment, Weight loss, Slender build OMIM:603041
Rheumatoid Arthritis
Weight loss OMIM:180300
Medullary Thyroid Carcinoma
Weight loss ORPHA:1332
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss ORPHA:86884
Cronkhite-Canada Syndrome
Cachexia ORPHA:2930
Cardiac-Urogenital Syndrome
Enlarged kidney, Micropenis, Penoscrotal hypospadias, Patent urachus OMIM:618280
Parenteral Nutrition-Associated Cholestasis
Small for gestational age, Abnormal metabolism ORPHA:567983
Neuropathy, Congenital Hypomyelinating, 3
Cachexia OMIM:618186
Pineoblastoma
Lethargy ORPHA:251909
Idiopathic Chronic Eosinophilic Pneumonia
Weight loss ORPHA:2902
Eosinophilic Gastroenteritis
Weight loss ORPHA:2070
Multiple Myeloma
Paresthesia, Abnormality of vitamin B12 metabolism, Weight loss ORPHA:29073
Wild Type Attr Amyloidosis
Weight loss ORPHA:330001
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Overweight, Lethargy ORPHA:226307
Congenital Tufting Enteropathy
Failure to thrive, Weight loss ORPHA:92050
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Paresthesia, Cachexia OMIM:175500
Wolman Disease
Cachexia ORPHA:75233
Inflammatory Pseudotumor Of The Liver
Weight loss ORPHA:90003
Hydranencephaly
Lethargy ORPHA:2177
Loeffler Endocarditis
Weight loss ORPHA:75566
Igg4-Related Aortitis
Weight loss ORPHA:449400
Diffuse Alveolar Hemorrhage
Weight loss ORPHA:90060
Ménétrier Disease
Weight loss ORPHA:2494
Mitochondrial Dna-Associated Leigh Syndrome
Hepatomegaly, Multiple glomerular cysts, Ataxia, Chorea, Lacticaciduria, Gait ataxia, Dystonia, A... ORPHA:255210
Aggressive Systemic Mastocytosis
Weight loss ORPHA:98850
Peripheral Primitive Neuroectodermal Tumor
Somatic sensory dysfunction, Weight loss ORPHA:370348
Acute Monoblastic/Monocytic Leukemia
Weight loss ORPHA:514
Primary Sclerosing Cholangitis
Decreased circulating vitamin E concentration, Weight loss, Depression, Reduced circulating vitam... ORPHA:171
Diamond-Blackfan Anemia
Lethargy, Small for gestational age ORPHA:124
Aredyld Syndrome
Cachexia ORPHA:1133
Eosinophilic Granulomatosis With Polyangiitis
Gait disturbance, Weight loss ORPHA:183
Klatskin Tumor
Weight loss ORPHA:99978
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Weight loss ORPHA:324964
Poems Syndrome
Paresthesia, Hyperesthesia, Weight loss ORPHA:2905
Multiple Endocrine Neoplasia Type 1
Lethargy, Weight loss, Depression ORPHA:652
Infantile Krabbe Disease
Hyperesthesia, Failure to thrive, Cachexia ORPHA:206436
Exercise-Induced Malignant Hyperthermia
Lethargy, Ataxia ORPHA:466650
Lysinuric Protein Intolerance
Lethargy, Failure to thrive ORPHA:470
Nodular Non-Suppurative Panniculitis
Weight loss ORPHA:33577
Felty Syndrome
Weight loss ORPHA:47612
Pneumocystosis
Weight loss ORPHA:723
Systemic Capillary Leak Syndrome
Weight loss ORPHA:188
Hypothyroidism, Congenital, Nongoitrous, 2
Lethargy OMIM:218700
X-Linked Intellectual Disability, Cabezas Type
Broad-based gait, Obesity, Cachexia ORPHA:85293
19Q13.11 Microdeletion Syndrome
Failure to thrive, Cachexia ORPHA:217346
Short Syndrome
Weight loss ORPHA:3163
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Familial Thrombocytosis
Paresthesia, Weight loss ORPHA:71493
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Weight loss ORPHA:54251
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Weight loss ORPHA:424
Thymic Neuroendocrine Tumor
Weight loss ORPHA:97289
8P23.1 Microdeletion Syndrome
Obesity, Weight loss ORPHA:251071
Aicardi-Goutieres Syndrome 9
Failure to thrive, Weight loss OMIM:619487
Carney-Stratakis Syndrome
Weight loss ORPHA:97286
Malignant Atrophic Papulosis
Pain insensitivity, Weight loss ORPHA:679
Riddle Syndrome
Ataxia, Gait disturbance, Weight loss ORPHA:420741
Simple Cryoglobulinemia
Paresthesia, Spontaneous pain sensation, Weight loss ORPHA:91139
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Ataxia, Weight loss ORPHA:99885
Silver-Russell Syndrome
Failure to thrive in infancy, Obesity, Cachexia ORPHA:813
Adrenocortical Carcinoma
Increased body weight, Weight loss ORPHA:1501
Acute Promyelocytic Leukemia
Weight loss ORPHA:520
Fanconi-Bickel Syndrome
Failure to thrive, Impairment of galactose metabolism OMIM:227810
Acrodermatitis Enteropathica
Failure to thrive, Weight loss ORPHA:37
Solitary Fibrous Tumor
Weight loss ORPHA:2126
Budd-Chiari Syndrome
Weight loss ORPHA:131
Familial Glucocorticoid Deficiency
Failure to thrive, Weight loss ORPHA:361
Marburg Hemorrhagic Fever
Dysesthesia, Lethargy ORPHA:99826
Oculopharyngodistal Myopathy 1
Ataxia, Difficulty walking, Weight loss OMIM:164310
Primary Myelofibrosis
Cachexia ORPHA:824
Neuroendocrine Tumor Of The Colon
Weight loss ORPHA:100080
Choreoacanthocytosis
Impaired vibratory sensation, Chorea, Depression, Bradykinesia, Weight loss, Apathy, Falls, Self-... ORPHA:2388
Osteootohepatoenteric Syndrome
Failure to thrive, Weight loss OMIM:619377
Sporadic Pheochromocytoma/Secreting Paraganglioma
Weight loss ORPHA:276621
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Drug Reaction With Eosinophilia And Systemic Symptoms
Weight loss ORPHA:139402
Alveolar Echinococcosis
Ataxia, Weight loss ORPHA:284
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Torticollis, Isometric tremor, Ataxia, Hypospadias, Head titubation, Hematuria, Neurodegeneration... OMIM:619475
Erdheim-Chester Disease
Ataxia, Weight loss ORPHA:35687
Nijmegen Breakage Syndrome
Recurrent urinary tract infections, Neurodegeneration, Hydronephrosis OMIM:251260
Bronchial Neuroendocrine Tumor
Weight loss ORPHA:97287
Neuroendocrine Tumor Of The Rectum
Weight loss ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Weight loss ORPHA:100082
Thymoma
Weight loss ORPHA:99867
Hereditary Amyloidosis With Primary Renal Involvement
Weight loss ORPHA:85450
Cystic Echinococcosis
Weight loss ORPHA:400
Familial Gestational Hyperthyroidism
Weight loss ORPHA:99819
Primary Hepatic Neuroendocrine Carcinoma
Weight loss ORPHA:100085
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cerebellar atrophy, Ataxia, Lacticaciduria, Cerebral atrophy, Tubulointerstitial nephritis, Amino... OMIM:124000
Amoebiasis Due To Entamoeba Histolytica
Weight loss ORPHA:67
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Decreased body weight, Increased body weight, Weight loss ORPHA:2298
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Failure to thrive, Weight loss ORPHA:1018
African Trypanosomiasis
Somatic sensory dysfunction, Akinesia, Impaired proprioception, Weight loss, Choreoathetosis, Gai... ORPHA:3385
Polycythemia Vera
Weight loss ORPHA:729
Al Amyloidosis
Weight loss ORPHA:85443
Pancreatoblastoma
Weight loss ORPHA:677
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia ORPHA:3217
Brucellosis
Small for gestational age, Chorea, Weight loss, Depression, Failure to thrive ORPHA:1304
Hereditary Pheochromocytoma-Paraganglioma
Weight loss ORPHA:29072
Xfe Progeroid Syndrome
Failure to thrive, Cachexia OMIM:610965
Systemic Mastocytosis With Associated Hematologic Neoplasm
Weight loss ORPHA:98849
Behçet Disease
Ataxia, Paresthesia, Gait disturbance, Weight loss ORPHA:117
Pyomyositis
Weight loss ORPHA:764
Lysosomal Acid Lipase Deficiency
Failure to thrive, Cachexia, Weight loss ORPHA:275761
Mucolipidosis Type Ii
Inability to walk, Weight loss ORPHA:576
Gallbladder Neuroendocrine Tumor
Weight loss ORPHA:100086
Tropical Pancreatitis
Weight loss ORPHA:103918
Anemia, Congenital Dyserythropoietic, Type Iv
Weight loss OMIM:613673
Acute Adrenal Insufficiency
Failure to thrive, Weight loss ORPHA:95409
Juvenile Dermatomyositis
Weight loss ORPHA:93672
Granulomatosis With Polyangiitis
Weight loss OMIM:608710
Renal Nutcracker Syndrome
Weight loss ORPHA:71273
Neuroendocrine Tumor Of Stomach
Weight loss ORPHA:100075
Eisenmenger Syndrome
Lethargy ORPHA:97214
Caroli Disease
Weight loss ORPHA:53035
Q Fever
Weight loss ORPHA:781
X-Linked Intellectual Disability, Armfield Type
Aminoaciduria, Organic aciduria, Cerebral cortical atrophy, Galactosuria ORPHA:85276
Igg4-Related Retroperitoneal Fibrosis
Weight loss ORPHA:49041
Schwartz-Jampel Syndrome
Gait disturbance, Cachexia, Decreased body weight ORPHA:800
Paroxysmal Nocturnal Hemoglobinuria
Lethargy ORPHA:447
Thyrotoxic Periodic Paralysis
Obesity, Weight loss ORPHA:79102
Glucagonoma
Weight loss, Depression ORPHA:97280
Castleman Disease
Weight loss ORPHA:160
Hermansky-Pudlak Syndrome
Weight loss ORPHA:79430
Stevens-Johnson Syndrome
Weight loss ORPHA:36426
Toxic Epidermal Necrolysis
Weight loss ORPHA:537
Cockayne Syndrome
Somatic sensory dysfunction, Ataxia, Cachexia, Inability to walk, Progressive gait ataxia, Gait d... ORPHA:191
Camurati-Engelmann Disease
Waddling gait, Slender build, Ataxia, Cachexia ORPHA:1328
Familial Pancreatic Carcinoma
Weight loss ORPHA:1333
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Failure to thrive in infancy, Cachexia ORPHA:37042
Bannayan-Riley-Ruvalcaba Syndrome
Cachexia ORPHA:109
Malt Lymphoma
Weight loss ORPHA:52417
Microsporidiosis
Cachexia, Weight loss ORPHA:2552
Seckel Syndrome
Cachexia ORPHA:808
Trisomy 18
Cachexia ORPHA:3380
Immunodeficiency 31C
Weight loss OMIM:614162
Congenital Fiber-Type Disproportion Myopathy
Failure to thrive, Weight loss ORPHA:2020
Addison Disease
Failure to thrive, Weight loss ORPHA:85138
Kikuchi-Fujimoto Disease
Ataxia, Weight loss ORPHA:50918
Rat-Bite Fever
Weight loss ORPHA:31205
Reactive Arthritis
Weight loss ORPHA:29207
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Weight loss ORPHA:85408
Ileal Neuroendocrine Tumor
Weight loss ORPHA:100078
Aicardi-Goutieres Syndrome 7
Weight loss OMIM:615846
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Cachexia ORPHA:1969
Fanconi Anemia
Weight loss ORPHA:84
Ppoma
Weight loss ORPHA:97278
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cachexia, Broad-based gait, Limb ataxia ORPHA:2072
Tsh-Secreting Pituitary Adenoma
Weight loss ORPHA:91347
Cystinosis, Nephropathic
Failure to thrive in infancy, Weight loss OMIM:219800
Granulomatosis With Polyangiitis
Weight loss ORPHA:900
Somatostatinoma
Weight loss ORPHA:97283
Parathyroid Carcinoma
Weight loss ORPHA:143
Zollinger-Ellison Syndrome
Weight loss ORPHA:913
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Weight loss OMIM:301074
Grfoma
Weight loss ORPHA:97261
Vipoma
Weight loss ORPHA:97282
Pulmonary Alveolar Microlithiasis
Weight loss ORPHA:60025
Postinfectious Vasculitis
Weight loss ORPHA:48435
Hutchinson-Gilford Progeria Syndrome
Severe failure to thrive, Shuffling gait, Weight loss ORPHA:740
Dermatomyositis
Weight loss ORPHA:221
Juvenile Polyposis Of Infancy
Cachexia ORPHA:79076
Nijmegen Breakage Syndrome
Cachexia ORPHA:647
Nocardiosis
Weight loss ORPHA:31204
Cushing Syndrome Due To Ectopic Acth Secretion
Increased body weight, Weight loss, Depression, Truncal obesity, Abdominal obesity ORPHA:99889
Primary Fanconi Renotubular Syndrome
Weight loss ORPHA:3337
Igg4-Related Dacryoadenitis And Sialadenitis
Weight loss ORPHA:79078
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Failure to thrive, Weight loss ORPHA:90794
Marfan Syndrome
Slender build, Cachexia ORPHA:558
Sarcoidosis, Susceptibility To, 1
Weight loss OMIM:181000
Immunodeficiency 82 With Systemic Inflammation
Weight loss OMIM:619381
Stickler Syndrome
Slender build, Cachexia ORPHA:828
Primrose Syndrome
Neurodegeneration, Ataxia OMIM:259050
Sarcoidosis
Weight loss ORPHA:797
Chronic Graft Versus Host Disease
Weight loss ORPHA:99921
Tubulointerstitial Nephritis And Uveitis Syndrome
Weight loss ORPHA:91500
Proteus Syndrome
Cachexia ORPHA:744
Goodpasture Syndrome
Weight loss OMIM:233450
Norrie Disease
Failure to thrive, Cachexia ORPHA:649
Tropical Endomyocardial Fibrosis
Cachexia ORPHA:75565

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 Gcdh

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 Gcdh.

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

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Gcdhtm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Gcdhtm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Gcdhtm2b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter