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Gene: Slc6a19 MGI:1921588

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

solute carrier family 6 (neurotransmitter transporter), member 19

Synonyms:

B⁰AT1, 4632401C08Rik

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Slc6a19 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.

Human diseases associated with Slc6a19 (3 diseases)
Human diseases predicted to be associated with Slc6a19 (753 diseases)

The table below shows human diseases associated to Slc6a19 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Iminoglycinuria	Hydroxyprolinuria, Hyperglycinuria, Prolinuria	ORPHA:42062
Hartnup Disorder	Neutral hyperaminoaciduria	OMIM:234500
Hartnup Disease	Abnormal urinary color, Neutral hyperaminoaciduria	ORPHA:2116

The table below shows human diseases predicted to be associated to Slc6a19 by phenotypic similarity.

Disease	Matching phenotypes	Source
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Homozygous 11P15-P14 Deletion Syndrome	Hypoglycemia, Diarrhea, Hyperinsulinemia, Generalized aminoaciduria, Renal tubular dysfunction, V...	OMIM:606528
Albinism-Microcephaly-Digital Anomalies Syndrome	Albinism	OMIM:203340
Griscelli Syndrome, Type 1	Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar...	OMIM:214450
Book Syndrome	Premature graying of hair	OMIM:112300
Albinism, Oculocutaneous, Type Iii	Red hair, Partial albinism, Albinism	OMIM:203290
Griscelli Syndrome Type 3	Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79478
Tietz Syndrome	Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e...	ORPHA:42665
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Transient Neonatal Diabetes Mellitus	Small for gestational age, Abnormality of the kidney, Maternal diabetes, Maturity-onset diabetes ...	ORPHA:99886
Ringed Hair Disease	Abnormal hair pattern, Fine hair	ORPHA:169
Dilution, Pigmentary	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	OMIM:126070
Waardenburg Syndrome, Type 2B	Premature graying of hair, White forelock, Heterochromia iridis	OMIM:600193
Hyper-Beta-Alaninemia	Increased urinary taurine, Failure to thrive	OMIM:237400
Pili Bifurcati	Abnormal hair morphology, Abnormality of hair texture	ORPHA:720
Short Stature Due To Primary Acid-Labile Subunit Deficiency	Truncal obesity, Insulin resistance, Delayed puberty, Decreased serum insulin-like growth factor 1	ORPHA:140941
Dibasic Amino Aciduria I	Dibasicaminoaciduria, Argininuria, Hyperlysinuria, Ornithinuria	OMIM:222690
Type 2 Diabetes Mellitus	Type II diabetes mellitus, Insulin resistance, Increased waist to hip ratio	OMIM:125853
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi...	ORPHA:411593
Dicarboxylic Aminoaciduria	Aminoaciduria, Aspartic aciduria, Nephrolithiasis, Fasting hypoglycemia	OMIM:222730
Valinemia	Valinuria, Failure to thrive, Vomiting	OMIM:277100
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Aminoaciduria, Failure to thrive	ORPHA:2278
Cystinuria	Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias...	OMIM:220100
Saccharopinuria	Citrullinuria, Hyperlysinuria, Histidinuria, Saccharopinuria	OMIM:268700
Galactosemia Iii	Failure to thrive, Aminoaciduria, Galactosuria, Vomiting	OMIM:230350
Hyperprolinemia, Type Ii	Hydroxyprolinuria, Hyperglycinuria, Prolinuria	OMIM:239510
Iminoglycinuria	Hydroxyprolinuria, Hyperglycinuria, Prolinuria	OMIM:242600
Cerebral Creatine Deficiency Syndrome 3	Failure to thrive, Organic aciduria	OMIM:612718
Hyperprolinemia Type 1	Nephropathy, Proteinuria, Prolinuria	ORPHA:419
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa...	OMIM:308990
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu...	OMIM:240900
Camptodactyly-Taurinuria Syndrome	Camptodactyly of toe, Increased urinary taurine, Aminoaciduria, Camptodactyly of finger	ORPHA:1325
Stimmler Syndrome	Type II diabetes mellitus, Aminoaciduria, Abnormal dental enamel morphology	ORPHA:3199
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Cachexia, Diarrhea, Weight loss, Aminoaciduria, Proximal tubulopathy, Vomiting, Failure to thrive	OMIM:612075
5-Oxoprolinase Deficiency	Calcium oxalate nephrolithiasis, Diarrhea, Enterocolitis, Increased level of L-pyroglutamic acid ...	OMIM:260005
Galactose Epimerase Deficiency	Aminoaciduria, Weight loss	ORPHA:79238
Iminoglycinuria	Hydroxyprolinuria, Hyperglycinuria, Prolinuria	ORPHA:42062
3-Hydroxyisobutyric Aciduria	Aminoaciduria, Failure to thrive	OMIM:236795
Albinism, Oculocutaneous, Type Ib	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:606952
Lysine Malabsorption Syndrome	Renal tubular lysine transport defect, Hyperlysinuria	OMIM:247950
Tremor Of Intention, Ataxia, And Lipofuscinosis	Premature graying of hair	OMIM:190200
Multiple Symmetric Lipomatosis	Multiple lipomas, Insulin resistance, Abnormal adipose tissue morphology	ORPHA:2398
Mody	Abnormality of the kidney, Large for gestational age, Overweight, Transient neonatal diabetes mel...	ORPHA:552
Camptodactyly 1	Increased urinary taurine, Camptodactyly of finger	OMIM:114200
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline...	ORPHA:263458
Ermine Phenotype	White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo	OMIM:227010
Acquired Partial Lipodystrophy	Glomerulopathy, Proteinuria, Lipoatrophy, Insulin resistance, Microscopic hematuria	ORPHA:79087
Waardenburg Syndrome, Type 2F	Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a...	OMIM:619947
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	Macular hyperpigmented dermopathy, White forelock	ORPHA:2779
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Hypopigmentation of hair, Partial albinism	ORPHA:90023
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair...	ORPHA:170
Albinism, Oculocutaneous, Type Iv	Hypopigmentation of hair, Blue irides, Albinism	OMIM:606574
Tiglic Acidemia	Aminoaciduria	OMIM:275190
Neonatal Severe Primary Hyperparathyroidism	Abnormality of the thyroid gland, Abnormal circulating calcium-phosphate regulating hormone conce...	ORPHA:417
Hydroxykynureninuria	Aminoaciduria, Vomiting	OMIM:236800
Cortisone Reductase Deficiency 2	Insulin resistance, Obesity, Premature pubarche	OMIM:614662
Threoninemia	Hyperthreoninuria	OMIM:273770
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Alaninuria, Hypoglycemia	OMIM:615158
Ichthyosis, Split Hairs, And Amino Aciduria	Aminoaciduria	OMIM:242550
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome	Aminoaciduria	ORPHA:79156
Carnosinemia	Carnosinuria	OMIM:212200
Diaminopentanuria	Hyperlysinuria, Cystinuria	OMIM:222350
Hydroxylysinuria	Hyperlysinuria	OMIM:236900
Carnosinase Deficiency	Carnosinuria	ORPHA:1361
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Indolylacroyl Glycinuria With Mental Retardation	Hyperglycinuria	OMIM:243050
Phosphohydroxylysinuria	Phosphohydroxylysinuria	OMIM:615011
Cystathioninuria	Cystathioninuria	OMIM:219500
Beta-Aminoisobutyric Aciduria	Beta-aminoisobutyric aciduria	OMIM:210100
Phenylketonuria	Aminoaciduria	ORPHA:716
Hyperprolinemia, Type I	Hydroxyprolinuria, Hyperglycinuria, Prolinuria	OMIM:239500
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
2P21 Microdeletion Syndrome	Hypoglycemia, Nephrolithiasis, Cystinuria, Hypogonadism, Failure to thrive	ORPHA:163693
Familial Renal Glucosuria	Recurrent urinary tract infections, Insulin resistance, Abnormal circulating insulin concentratio...	ORPHA:69076
White Forelock With Malformations	White forelock, Poliosis	OMIM:277740
Waardenburg Syndrome, Type 4B	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:613265
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria	Alpha-aminoadipic aciduria, 2-hydroxyadipic aciduria	OMIM:204750
Hyperglycinuria	Hyperglycinuria, Calcium oxalate nephrolithiasis	OMIM:138500
Dent Disease 2	Chronic kidney disease, Hypercalciuria, Nephrocalcinosis, Aminoaciduria, Proximal tubulopathy, Lo...	OMIM:300555
Hypercalcemia, Infantile, 1	Failure to thrive, Polyuria, Decreased circulating parathyroid hormone level, Nephrolithiasis, Hy...	OMIM:143880
Galactosemia I	Hypergonadotropic hypogonadism, Diarrhea, Albuminuria, Aminoaciduria, Galactosuria, Vomiting, Inc...	OMIM:230400
Homocarnosinosis	Carnosinuria	OMIM:236130
Cystinosis	Renal insufficiency, Proteinuria, Nephrogenic diabetes insipidus, Renal tubular dysfunction, Amin...	ORPHA:213
Diabetes Mellitus, Ketosis-Prone	Beta-cell dysfunction, Insulin resistance, Diabetes mellitus	OMIM:612227
Hypertryptophanemia	Camptodactyly of finger, Increased serum serotonin, Tryptophanuria	OMIM:600627
Griscelli Syndrome, Type 2	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan...	OMIM:607624
Hyperinsulinemic Hypoglycemia, Familial, 1	Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Large fo...	OMIM:256450
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Proteinuria, Nephrogenic diabetes insipidus, Nephrocalcinosis, Renal tubular acidosis, Aminoacidu...	OMIM:613404
Glutamate Formiminotransferase Deficiency	Aminoaciduria, Elevated urinary formiminoglutamic acid level	OMIM:229100
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Flexion contracture, Lacticaciduria, Renal hypoplasia, Aminoaciduria, 3-Methylglutaconic aciduria...	OMIM:604273
Combined Oxidative Phosphorylation Deficiency 52	Renal insufficiency, Hypoglycemia, Lacticaciduria, Aminoaciduria, Adrenal insufficiency	OMIM:619386
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hyperphosphaturia, Diabetes mellitus, Proteinuria, Hypoglycemia, Large for gestational age, Nephr...	OMIM:616026
Mercaptolactate-Cysteine Disulfiduria	Aminoaciduria	OMIM:249650
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity	Homocystinuria	OMIM:236250
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement	Insulin resistance	OMIM:200170
Hypotonia-Cystinuria Syndrome	Failure to thrive, Nephrolithiasis, Cystinuria	ORPHA:163690
Gracile Syndrome	Aminoaciduria	OMIM:603358
Familial Partial Lipodystrophy, Köbberling Type	Insulin resistance, Diabetes mellitus, Lipoatrophy, Hyperinsulinemia	ORPHA:79084
Laryngeal Neuroendocrine Tumor	Oral-pharyngeal dysphagia, Weight loss, Adrenocorticotropic hormone excess, Increased serum serot...	ORPHA:100083
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica...	OMIM:134600
Waardenburg Syndrome, Type 2A	White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,...	OMIM:193510
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc...	ORPHA:171706
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Hypoglycemia	ORPHA:664
Morbid Obesity And Spermatogenic Failure	Type II diabetes mellitus, Insulin resistance, Obesity	OMIM:615703
Fanconi Renotubular Syndrome 3	Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-...	OMIM:615605
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:619165
Hyperinsulinemic Hypoglycemia, Familial, 2	Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia, Large for gestati...	OMIM:601820
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Aminoaciduria	OMIM:204730
Fanconi Renotubular Syndrome 2	Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast...	OMIM:613388
Methylmalonic Aciduria And Homocystinuria, Cblx Type	Failure to thrive, Homocystinuria, Methylmalonic aciduria	OMIM:309541
Hyperinsulinemic Hypoglycemia, Familial, 5	Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy...	OMIM:609968
Oculocerebral Syndrome With Hypopigmentation	Silver-gray hair, Hypopigmentation of the skin	OMIM:257800
Uncombable Hair Syndrome 3	Uncombable hair, Curly hair, Brittle hair, Pili canaliculi	OMIM:617252
Hyperlysinemia, Type I	Hyperlysinuria	OMIM:238700
Lipodystrophy, Familial Partial, Type 3	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,...	OMIM:604367
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation, Hypospadias	ORPHA:1355
Glucoglycinuria	Hyperglycinuria, Glycosuria	OMIM:138070
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Cachexia, Aminoaciduria, Methylmalonic aciduria	ORPHA:1933
Pulmonary Blastoma	Weight loss	ORPHA:64741
Diabetes Mellitus, Permanent Neonatal, 3	Ketonuria, Small for gestational age, Glycosuria, Type I diabetes mellitus, Hyperglycemia	OMIM:618857
Waardenburg Syndrome Type 2	Hypopigmentation of hair, Abnormality of the kidney, Hypopigmented skin patches, Premature grayin...	ORPHA:895
Fanconi-Bickel Syndrome	Hyperphosphaturia, Diabetes mellitus, Impaired glucose tolerance, Hypercalciuria, Generalized ami...	ORPHA:2088
Hartnup Disorder	Neutral hyperaminoaciduria	OMIM:234500
Methionine Malabsorption Syndrome	Aminoaciduria, Diarrhea	OMIM:250900
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Diarr...	OMIM:600955
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To	Increased level of L-pyroglutamic acid in urine	OMIM:231900
Cystathioninuria	Cystathioninuria, Nephrolithiasis	ORPHA:212
Obesity Due To Melanocortin 4 Receptor Deficiency	Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset t...	ORPHA:71529
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia...	ORPHA:71526
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis	OMIM:618913
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig...	OMIM:203200
Insulin-Resistance Syndrome Type B	Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Fasting hypoglycemia, Hyper...	ORPHA:2298
Attrv30M Amyloidosis	Diarrhea, Weight loss, Constipation, Nephropathy, Abnormal renal physiology	ORPHA:85447
Lipodystrophy, Familial Partial, Type 4	Insulin-resistant diabetes mellitus, Lipoatrophy, Insulin resistance, Lipodystrophy	OMIM:613877
Body Mass Index Quantitative Trait Locus 19	Insulin resistance, Hyperinsulinemia, Obesity, Increased serum leptin	OMIM:617885
Dent Disease 1	Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N...	OMIM:300009
3-Methylcrotonyl-Coa Carboxylase Deficiency	Organic aciduria, Failure to thrive in infancy, Hypoglycemia	ORPHA:6
Piebald Trait With Neurologic Defects	White forelock, Absent pigmentation of the ventral chest	OMIM:172850
Carbamoyl-Phosphate Synthetase 1 Deficiency	Aminoaciduria	ORPHA:147
Oculocutaneous Albinism Type 3	White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener...	ORPHA:79433
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
Idiopathic Achalasia	Weight loss, Gastroesophageal reflux, Dysphagia	ORPHA:930
Tyrosinemia Type 1	Generalized aminoaciduria	ORPHA:882
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,...	ORPHA:436271
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o...	ORPHA:79414
Hyperinsulinemic Hypoglycemia, Familial, 6	Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin...	OMIM:606762
Elejalde Neuroectodermal Melanolysosomal Syndrome	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan...	OMIM:256710
Tuberculosis	Weight loss	ORPHA:3389
Hyperlysinuria With Hyperammonemia	Dibasicaminoaciduria, Hyperlysinuria	OMIM:238750
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Aminoaciduria, Failure to thrive	OMIM:250620
Hyperinsulinemic Hypoglycemia, Familial, 3	Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:602485
Piebald Trait-Neurologic Defects Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented...	ORPHA:2885
Histidinuria-Renal Tubular Defect Syndrome	Impaired histidine renal tubular absorption, Histidinuria, Hypoglycemia	ORPHA:2158
Albinism, Oculocutaneous, Type Vi	Generalized hypopigmentation, Fair hair	OMIM:113750
Yemenite Deaf-Blind Hypopigmentation Syndrome	Patchy hypo- and hyperpigmentation, White forelock, Numerous pigmented freckles	OMIM:601706
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Insulin resistance, Genera...	OMIM:612526
Lipodystrophy, Familial Partial, Type 6	Insulin resistance, Abdominal obesity, Diabetes mellitus, Lipodystrophy	OMIM:615980
Uncombable Hair Syndrome 1	Uncombable hair, Dry hair, Pili canaliculi	OMIM:191480
Hyperinsulinism-Hyperammonemia Syndrome	Increased urine alpha-ketoglutarate concentration, Hyperinsulinemic hypoglycemia, Fasting hyperin...	ORPHA:35878
Encephalopathy Due To Sulfite Oxidase Deficiency	Aminoaciduria	ORPHA:833
Dent Disease	Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k...	ORPHA:1652
Fanconi-Bickel Syndrome	Reduced subcutaneous adipose tissue, Hyperphosphaturia, Ketonuria, Proteinuria, Hypercalciuria, G...	OMIM:227810
Hyperparathyroidism, Neonatal Severe	Hyperphosphaturia, Polyuria, Primary hyperparathyroidism, Hypercalciuria, Aminoaciduria, Elevated...	OMIM:239200
Lipe-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Decreased adiponectin level, Decreas...	ORPHA:435660
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate	Increased urine alpha-ketoglutarate concentration, Increased urine succinate level, Elevated urin...	OMIM:618384
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Small for gestational age, Nephrogenic diabetes insipidus, Nephrocalcinosis, Renal tubular acidos...	OMIM:208085
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	ORPHA:2786
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Failure to thrive, Homocystinuria	OMIM:250940
Akt2-Related Familial Partial Lipodystrophy	Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes me...	ORPHA:79085
Primary Fanconi Renotubular Syndrome	Hypoglycemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa...	ORPHA:3337
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Ketonuria, Large for gestational age, Aminoaciduria, Umbilical hernia, Failure to thrive	OMIM:614520
Glutamate-Cysteine Ligase Deficiency	Aminoaciduria	ORPHA:33574
Juvenile Nephropathic Cystinosis	Renal insufficiency, Failure to thrive, Proteinuria, Chronic kidney disease, Elevated circulating...	ORPHA:411634
Hypotonia-Cystinuria Syndrome	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Nephrolith...	OMIM:606407
Muscular Dystrophy, Cardiac Type	Carnosinuria	OMIM:309930
Mu-Heavy Chain Disease	Nephropathy, Bence Jones Proteinuria, Weight loss	ORPHA:100024
Thiamine-Responsive Megaloblastic Anemia Syndrome	Aminoaciduria, Diabetes mellitus, Gastroesophageal reflux	OMIM:249270
Hyperinsulinism Due To Hnf1A Deficiency	Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Large ...	ORPHA:324575
Glutathionuria	Constipation, Urinary incontinence, Glutathionuria	OMIM:231950
Mantle Cell Lymphoma	Weight loss	ORPHA:52416
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Diarrhea, Enamel hypomineralization, Bicarbonaturia, Bicarbonate-wasting renal...	ORPHA:47159
Saccharopinuria	Citrullinuria, Hyperlysinuria, Cystinuria	ORPHA:3124
Argininemia	Diaminoaciduria	ORPHA:90
Solitary Fibrous Tumor	Hypoglycemia, Weight loss, Recurrent hypoglycemia, Constipation, Urinary retention, Hypoinsulinemia	ORPHA:2126
Hsd10 Disease	Elevated urinary 3-hydroxybutyric acid, Abnormal urinary acylglycine profile, Dysphagia	ORPHA:391417
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp...	ORPHA:79299
Glutathione Synthetase Deficiency	Increased level of L-pyroglutamic acid in urine	OMIM:266130
Albinism-Deafness Syndrome	Patchy hypo- and hyperpigmentation, Piebaldism, Partial albinism, Albinism	OMIM:300700
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormality of thyroid physiology, Abnormal tubulointerstitial morphology, Ren...	ORPHA:411629
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Ketonuria, Elevated circulating growth hormone concentration, Large for gestational age, Abnormal...	ORPHA:79644
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Ketonuria, Ketotic hypoglycemia, Glycosuria, Postprandial hyperglycemia, Failure to thrive	ORPHA:2089
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Failure to thrive, Homocystinuria, Methylmalonic aciduria	OMIM:236270
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Aminoaciduria	OMIM:609560
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,...	OMIM:220110
Hawkinsinuria	Failure to thrive, Hypothyroidism, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria	ORPHA:2118
Distal Renal Tubular Acidosis	Hyperphosphaturia, Failure to thrive, Hypocitraturia, Diarrhea, Nephrolithiasis, Renal cyst, Hype...	ORPHA:18
Central Diabetes Insipidus	Diarrhea, Weight loss, Failure to thrive, Diabetes insipidus, Nocturia	ORPHA:178029
Intestinal Dysmotility Syndrome	Failure to thrive, Diarrhea, Projectile vomiting, Weight loss	OMIM:620045
D-Glyceric Aciduria	Hypoglycemia, Aminoaciduria, Gastroesophageal reflux, Micropenis, Failure to thrive	OMIM:220120
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Small for gestational age, Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus,...	OMIM:262190
Adrenocortical Carcinoma	Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ...	ORPHA:1501
Plin1-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipoatrophy, H...	ORPHA:280356
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Small for gestational age, Methylmalonic aciduria, Aminoaciduria, Gastroesophageal reflux, Failur...	OMIM:612073
Waardenburg Syndrome, Type 4A	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:277580
Multiple Acyl-Coa Dehydrogenase Deficiency	Hypoglycemia, Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulo...	OMIM:231680
Sulfite Oxidase Deficiency, Isolated	Sulfocysteinuria, Decreased urinary sulfate, Episodic vomiting, Increased urinary sulfite level	OMIM:272300
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Insulin-resistant diabetes mellitus, Insulin resistance, Enlarged kidney, Elevated circulating gr...	ORPHA:90301
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Insulin resistance, H...	ORPHA:363400
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Increased subcutaneous truncal adipose...	ORPHA:2457
Glycine Encephalopathy 1	Hyperglycinuria	OMIM:605899
Diencephalic Syndrome	Abnormality of the hypothalamus-pituitary axis, Long penis, Cachexia, Decreased body weight	ORPHA:1672
Lipoyltransferase 1 Deficiency	Alaninuria, Hyperglutaminuria, Lacticaciduria	OMIM:616299
Piebald Trait	Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr...	OMIM:172800
Combined Oxidative Phosphorylation Deficiency 36	Failure to thrive, Hypoglycemia, Aciduria	OMIM:617950
Obesity And Hypopigmentation	Red hair	OMIM:620195
Cerebrooculofacioskeletal Syndrome 1	Failure to thrive, Small for gestational age, Insulin resistance, Flexion contracture, Elbow flex...	OMIM:214150
Congenital Generalized Lipodystrophy	Diabetes mellitus, Lipodystrophy, Precocious puberty in females, Adipose tissue loss, Insulin res...	ORPHA:528
Waardenburg-Shah Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormalit...	ORPHA:897
Neuroectodermal Melanolysosomal Disease	Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat...	ORPHA:33445
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Methylmalonyl-Coa Epimerase Deficiency	Failure to thrive, Ketonuria, Gastroesophageal reflux, Methylmalonic aciduria	OMIM:251120
Inflammatory Bowel Disease (Crohn Disease) 1	Intestinal obstruction, Diarrhea, Ulcerative colitis, Weight loss, Inflammation of the large inte...	OMIM:266600
Succinic Semialdehyde Dehydrogenase Deficiency	Elevated urinary 4-hydroxybutyric acid, Increased level of gamma-aminobutyric acid in urine	OMIM:271980
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hypoglycemia, Medium chain dicarboxylic aciduria, Hyperglycinuria, Vomiting	OMIM:201450
Isolated Congenital Hypoglossia/Aglossia	Weight loss	ORPHA:141152
Neuroblastoma, Susceptibility To, 1	Elevated urinary catecholamine level, Diarrhea, Elevated urinary dopamine level, Abnormality of u...	OMIM:256700
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Ketonuria, Hypoglycemia, Hyperglycinuria, Organic aciduria, Vomiting, Failure to thrive	OMIM:210210
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Ketonuria, Hypoglycemia, Vomiting, Elevated urinary 3-methylcrotonylglycine level, Failure to thr...	OMIM:210200
Hyperprolinemia Type 2	Increased urine alpha-ketoglutarate concentration, Renal insufficiency, Diarrhea, Prolinuria, Dys...	ORPHA:79101
Cystinosis, Nephropathic	Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri...	OMIM:219800
Glucose-Galactose Malabsorption	Renal insufficiency, Diarrhea, Nephrolithiasis, Weight loss, Hematuria, Vomiting, Failure to thrive	ORPHA:35710
Hereditary Central Diabetes Insipidus	Diarrhea, Vomiting, Diabetes insipidus, Weight loss	ORPHA:30925
Placental Insufficiency	Insulin resistance, Small for gestational age	ORPHA:439167
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia...	ORPHA:276608
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Excessive insulin response to glucagon test, Maternal diabetes, Large for gestational age, Hyperi...	ORPHA:276580
Familial Glucocorticoid Deficiency	Decreased circulating dehydroepiandrosterone concentration, Recurrent urinary tract infections, D...	ORPHA:361
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona...	OMIM:619326
Sarcosinemia	Hypersarcosinuria	ORPHA:3129
Silver-Russell Syndrome	Hypospadias, Failure to thrive in infancy, Cachexia, Precocious puberty, Insulin resistance, Obes...	ORPHA:813
Familial Partial Lipodystrophy, Dunnigan Type	Loss of subcutaneous adipose tissue in limbs, Glomerulopathy, Diabetes mellitus, Lipodystrophy, L...	ORPHA:2348
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Proteinuria, Large for gestational age, Diarrhea, Hyperinsulinemia, Increased body weight, Renal ...	ORPHA:263455
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Hypoglycemia, Anterior pituitary hypoplasia, Decreased circulating...	ORPHA:453533
Familial Expansile Osteolysis	Hydroxyprolinuria	OMIM:174810
Propionic Acidemia	Increased level of hippuric acid in urine, Hypoglycemia, Hyperglycinuria, Constipation, Vomiting,...	OMIM:606054
Piebaldism	Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk...	ORPHA:2884
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Failure to thrive, Episodic vomiting, Homocitrullinuria	OMIM:238970
Vogt-Koyanagi-Harada Disease	Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Hypopigmen...	ORPHA:3437
Oculocutaneous Albinism Type 4	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin...	ORPHA:79435
Short Syndrome	Inguinal hernia, Small for gestational age, Lipoatrophy, Lipodystrophy, Insulin resistance, Absen...	OMIM:269880
Non-Functioning Paraganglioma	Paraganglioma of head and neck, Elevated urinary norepinephrine level, Elevated urinary dopamine ...	ORPHA:94080
Pseudomyxoma Peritonei	Intestinal obstruction, Weight loss, Inflammation of the large intestine, Constipation, Hernia	ORPHA:26790
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair	ORPHA:1067
Sialidosis Type 1	Increased urinary O-linked sialopeptides, Aminoaciduria, Urinary excretion of sialylated oligosac...	ORPHA:812
Myasthenic Syndrome, Congenital, 22	Decreased response to growth hormone stimulation test, Cystinuria	OMIM:616224
Dermotrichic Syndrome	Aminoaciduria	ORPHA:99688
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ...	OMIM:147630
Hereditary Amyloidosis With Primary Renal Involvement	Gastrointestinal hemorrhage, Renal insufficiency, Intestinal obstruction, Proteinuria, Renal inte...	ORPHA:85450
Acquired Central Diabetes Insipidus	Pollakisuria, Diabetes insipidus, Weight loss	ORPHA:95626
Propionic Acidemia	Organic aciduria, Constipation, Hypoglycemia	ORPHA:35
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Small for gestational age, Hypoglycemia, Aminoaciduria, Failure to thrive, Neonatal hypoglycemia	OMIM:619055
Fructose Intolerance, Hereditary	Gastrointestinal hemorrhage, Transient aminoaciduria, Hyperphosphaturia, Hypoglycemia, Bicarbonat...	OMIM:229600
Histidinuria Due To A Renal Tubular Defect	Impaired histidine renal tubular absorption, Histidinuria	OMIM:235830
Dopamine Beta-Hydroxylase Deficiency	Hypoglycemia, Diarrhea, Elevated urinary dopamine level, Elevated circulating creatinine concentr...	ORPHA:230
Albinism-Deafness Syndrome	Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro...	ORPHA:998
Undifferentiated Pleomorphic Sarcoma	Weight loss	ORPHA:2023
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Small for gestational age, Hypoglycemia, Insulin resistance, Truncal obesity, Hypogonadism, Failu...	ORPHA:73272
Monocarboxylate Transporter 1 Deficiency	Ketonuria, Ketotic hypoglycemia	OMIM:616095
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperglycemia, Hyperinsulinemia, Obesity	ORPHA:329249
Lipodystrophy, Familial Partial, Type 1	Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Increased subcutaneous truncal adipo...	OMIM:608600
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Inguinal hernia, Methylmalonic aciduria, Gastroesophageal reflux, Failure to thrive, Homocystinuria	OMIM:614857
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Excessive insulin response to glucagon test, Large for gestational age, Hyperinsulinemia, Hypogly...	ORPHA:276575
Retinitis Pigmentosa	Hypoplasia of penis, Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II ...	ORPHA:791
Short Syndrome	Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology, Insulin res...	ORPHA:3163
Galactokinase Deficiency	Small for gestational age, Hypoglycemia, Hypergonadotropic hypogonadism, Hyperinsulinemia, Increa...	ORPHA:79237
Acquired Generalized Lipodystrophy	Proteinuria, Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia, Generaliz...	ORPHA:79086
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Large for gestational age, Abnormal circulating insulin concentration, H...	ORPHA:293964
Congenital Disorder Of Glycosylation, Type Iif	Aminoaciduria, Proteinuria	OMIM:603585
Inflammatory Bowel Disease 11	Hematochezia, Diarrhea, Weight loss, Inflammation of the large intestine	OMIM:191390
Multiple Mitochondrial Dysfunctions Syndrome 1	Increased urine alpha-ketoglutarate concentration, Lacticaciduria, Hyperglycinuria, Alpha-aminoad...	OMIM:605711
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Loss of subcutaneous adipose tissue in limbs, Diabetes mellitus, Lipodystrophy, Insulin resistanc...	OMIM:615381
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Weight loss, Gastroesophageal reflux, Dysphagia	ORPHA:2198
Wild Type Attr Amyloidosis	Renal insufficiency, Proteinuria, Bowel incontinence, Chronic diarrhea, Weight loss, Nephrotic sy...	ORPHA:330001
Body Mass Index Quantitative Trait Locus 20	Hyperinsulinemia, Obesity	OMIM:618406
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Pituitary null cell adenoma, Pancreatic islet cell adenoma, Neoplasm of ...	ORPHA:97289
Peroxisome Biogenesis Disorder 2A (Zellweger)	Joint contracture of the hand, Aminoaciduria, Hypoplasia of the thymus, Polycystic kidney dysplas...	OMIM:214110
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Reduced subcutaneous adipose tissue, Lipoatrophy, Lipodystrophy, Cachexia, Flexion contracture, W...	ORPHA:1979
Glutaric Aciduria Iii	Hyperthyroidism, Glutaric aciduria, Diarrhea, Vomiting, Failure to thrive, Goiter	OMIM:231690
Dimethylglycine Dehydrogenase Deficiency	Elevated urinary N,N-dimethylglycine level	OMIM:605850
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, Hypoglycemia, Cachexia, Diarrhea, ...	ORPHA:42
Chronic Hiccup	Weight loss	ORPHA:396
Glutaric Acidemia Type 3	Glutaric aciduria, Failure to thrive, Ketonuria	ORPHA:35706
Griscelli Syndrome Type 1	Premature graying of hair, White hair, Partial albinism, Iris hypopigmentation	ORPHA:79476
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Aminoaciduria, Hypogonadism	OMIM:273400
Zollinger-Ellison Syndrome	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Elevated circulating...	ORPHA:913
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Slender build, Constipation, Cachexia, Weight loss	OMIM:613662
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Ketonuria, Neonatal insulin-dependent diabetes mellitus, Abnormality of the up...	ORPHA:99885
Graves Disease, Susceptibility To, 1	Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Increas...	OMIM:275000
Hirschsprung Disease	Intestinal obstruction, Failure to thrive in infancy, Diarrhea, Weight loss, Constipation, Neopla...	ORPHA:388
2,4-Dienoyl-Coa Reductase Deficiency	Failure to thrive, Hyperlysinuria	OMIM:616034
Bruck Syndrome 2	Inguinal hernia, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Hydrox...	OMIM:609220
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Beta-alaninuria, Elevated urinary aminoisobutyric acid, M...	OMIM:614105
Pparg-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Diabetes mellitus, Lipoatrophy, Maternal diabetes, ...	ORPHA:79083
Waardenburg Syndrome Type 1	Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh...	ORPHA:894
Multiple Mitochondrial Dysfunctions Syndrome 3	Arthrogryposis multiplex congenita, Beta-aminoisobutyric aciduria	OMIM:615330
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Generalized aminoaciduria, Elevated circulating parathyroid hormone level, Secondary hyperparathy...	OMIM:264700
Fumarase Deficiency	Reduced subcutaneous adipose tissue, Necrotizing enterocolitis, Bilateral fetal pyelectasis, Incr...	OMIM:606812
Gitelman Syndrome	Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Tubulointerstitial nephriti...	ORPHA:358
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth...	OMIM:613239
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Renal insufficiency, Proteinuria, Hemolytic-uremic syndrome, Cystathioninuria, Methylmalonic acid...	OMIM:277400
Leber Congenital Amaurosis 1	Hyperthreoninuria	OMIM:204000
Leigh Syndrome	Multiple joint contractures, Hypoglycemia, Lacticaciduria, Methylmalonic aciduria, Generalized am...	ORPHA:506
Isaacs Syndrome	Weight loss	ORPHA:84142
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Lysinuric Protein Intolerance	Failure to thrive, Diarrhea, Stage 5 chronic kidney disease, Truncal obesity, Aminoaciduria, Hype...	OMIM:222700
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Hypospadias, Small for gestational age, Decreased response to growth hormone stimulation test, Pr...	ORPHA:96182
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Hereditary Orotic Aciduria	Aminoaciduria, Orotic acid crystalluria, Abnormality of the ureter, Oroticaciduria	ORPHA:30
Werner Syndrome	Renal neoplasm, Lipodystrophy, Lipoatrophy, Insulin resistance, Thyroid carcinoma, Type II diabet...	ORPHA:902
Nephroblastoma	Hematuria, Nephroblastoma, Weight loss	ORPHA:654
Spinocerebellar Ataxia 48	Urinary incontinence, Cachexia, Dysphagia	OMIM:618093
Lipodystrophy, Congenital Generalized, Type 4	Lipodystrophy, Insulin resistance, Flexion contracture, Ileus, Hyperinsulinemia, Constipation, Dy...	OMIM:613327
Aredyld Syndrome	Lipoatrophy, Abnormal dental enamel morphology, Cachexia, Abnormality of the ureter, Type II diab...	ORPHA:1133
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H...	OMIM:620211
Gyrate Atrophy Of Choroid And Retina	Aminoaciduria	ORPHA:414
Rabson-Mendenhall Syndrome	Reduced subcutaneous adipose tissue, Increased pineal volume, Impaired glucose tolerance, Precoci...	ORPHA:769
Reticular Dysgenesis	Diarrhea, Failure to thrive, Aplasia/Hypoplasia of the thymus, Weight loss	ORPHA:33355
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:177910
Argininosuccinic Aciduria	Aminoaciduria, Oroticaciduria	ORPHA:23
Leprechaunism	Reduced subcutaneous adipose tissue, Insulin resistance, Long penis, Hyperinsulinemia, Hypercalci...	ORPHA:508
Molybdenum Cofactor Deficiency, Complementation Group A	Xanthine nephrolithiasis, Increased urinary sulfite level, Absent urinary urothione, Elevated uri...	OMIM:252150
Obesity Due To Congenital Leptin Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:66628
Hermansky-Pudlak Syndrome 3	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:614072
Argininosuccinic Aciduria	Failure to thrive, Aminoaciduria, Oroticaciduria, Vomiting	OMIM:207900
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Failure to thrive, Vomiting, Generalized aminoaciduria, Hypoglycemia	OMIM:251880
Sporadic Pheochromocytoma/Secreting Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Elevated urinary nore...	ORPHA:276621
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Diabetes melli...	ORPHA:280365
Liposarcoma	Abnormality of the kidney, Weight loss	ORPHA:69078
Moynahan Syndrome	Hypogonadism, Cachexia	ORPHA:2574
Short Stature, Microcephaly, And Endocrine Dysfunction	Inguinal hernia, Diabetes mellitus, Unilateral renal agenesis, Ectopic kidney, Insulin resistance...	OMIM:616541
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin...	ORPHA:97279
Tenorio Syndrome	Hypoglycemia, Enuresis, Gastroesophageal reflux, Recurrent aphthous stomatitis, Hypoinsulinemia	OMIM:616260
Obesity Due To Sim1 Deficiency	Glucose intolerance, Hyperinsulinemia, Obesity	ORPHA:369873
Rhabdoid Tumor	Hematuria, Renal neoplasm, Weight loss	ORPHA:69077
Mulibrey Nanism	Cachexia	ORPHA:2576
Obesity Due To Leptin Receptor Gene Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:179494
Seckel Syndrome 10	Diabetes mellitus, Impaired glucose tolerance, Elevated circulating luteinizing hormone level, In...	OMIM:617253
Erythrokeratodermia Variabilis	Diabetes mellitus, Weight loss	ORPHA:317
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Small for gestational age, Cystathioninuria, Methylmalonic aciduria, Stomatitis, Failure to thriv...	OMIM:277380
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Methioninuria, Failure to thrive, Homocystinuria, Inguinal hernia	OMIM:236200
Lipodystrophy, Familial Partial, Type 7	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased adip...	OMIM:606721
Medullary Thyroid Carcinoma	Diarrhea, Primary hyperparathyroidism, Dysphagia, Weight loss, Pheochromocytoma, Elevated circula...	ORPHA:1332
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Isovaleric Acidemia	Vomiting, Hyperglycinuria	OMIM:243500
Multicentric Reticulohistiocytosis	Cachexia	ORPHA:139436
Bullous Pemphigoid	Diabetes mellitus, Weight loss	ORPHA:703
Hypocalcemic Vitamin D-Dependent Rickets	Generalized aminoaciduria, Elevated circulating parathyroid hormone level, Secondary hyperparathy...	ORPHA:289157
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Nephropathy, Proteinuria, Camptodactyly of finger, Cachexia	ORPHA:2774
Hereditary Pheochromocytoma-Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Elevated urinary nore...	ORPHA:29072
Hyperinsulinism Due To Ucp2 Deficiency	Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Recurrent hypoglycemia, ...	ORPHA:276556
Congenital Disorder Of Glycosylation, Type Ib	Diarrhea, Renal cyst, Proximal tubulopathy, Vomiting, Steatorrhea, Hyperinsulinemic hypoglycemia,...	OMIM:602579
Hawkinsinuria	Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, Hawkinsinuria,...	OMIM:140350
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Keloids	ORPHA:3085
Netherton Syndrome	Aminoaciduria, Hydronephrosis, Ectopic kidney	ORPHA:634
Cap Polyposis	Atrophic gastritis, Diarrhea, Weight loss, Hematochezia, Constipation	ORPHA:160148
Paget Disease Of Bone 5, Juvenile-Onset	Increased urine deoxypyridinoline level, Macular scar, Hypercalciuria, Hydroxyprolinuria, Failure...	OMIM:239000
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair	ORPHA:2221
Interstitial Lung And Liver Disease	Hypothyroidism, Aminoaciduria, Failure to thrive, Vomiting	OMIM:615486
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Ketonuria, Hypoglycemia, Vomiting, Hyperglycemia, Failure to thrive	OMIM:615453
Oculocutaneous Albinism Type 2	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab...	ORPHA:79432
Yao Syndrome	Diarrhea, Xerostomia, Nephrolithiasis, Weight loss	OMIM:617321
Peroxisome Biogenesis Disorder 1A (Zellweger)	Hypospadias, Adrenal hypoplasia, Albuminuria, Aminoaciduria, Dysphagia, Failure to thrive, Renal ...	OMIM:214100
Oculocutaneous Albinism Type 1B	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck...	ORPHA:79434
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Failure to thrive, Camptodactyly of finger, Bicarbonaturi...	OMIM:309000
Primary Hyperoxaluria Type 3	Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri...	ORPHA:93600
Parathyroid Carcinoma	Renal insufficiency, Renal hamartoma, Primary hyperparathyroidism, Nephrolithiasis, Renal cyst, H...	ORPHA:143
Majeed Syndrome	Glomerulopathy, Failure to thrive, Proteinuria, Cachexia, Flexion contracture, Weight loss, Micro...	ORPHA:77297
Monosomy 13Q34	Hematochezia, Fetal pyelectasis, Insulin resistance, Obesity	ORPHA:96168
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Weight loss	ORPHA:86893
Oculocutaneous Albinism Type 1	White eyelashes, White eyebrow, Blue irides, Iris transillumination defect, Generalized hypopigme...	ORPHA:352731
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency	Elevated urinary 3-hydroxybutyric acid, Ketonuria, Vomiting	OMIM:245050
Wilson Disease	Hypoparathyroidism, Hyperphosphaturia, Proteinuria, Nephrolithiasis, Hypercalciuria, Dysphagia, R...	OMIM:277900
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Insulin-resis...	OMIM:608612
Acute Adrenal Insufficiency	Renal insufficiency, Decreased circulating cortisol level, Hypoglycemia, Adrenal hypoplasia, Decr...	ORPHA:95409
Acute Myelomonocytic Leukemia	Weight loss	ORPHA:517
Whipple Disease	Gastrointestinal hemorrhage, Cachexia, Diarrhea, Insulin resistance, Hypothyroidism	ORPHA:3452
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Gastroesophageal reflux...	ORPHA:534
Systemic Capillary Leak Syndrome	Renal insufficiency, Diarrhea, Oliguria, Weight loss, Abnormal renal tubule morphology	ORPHA:188
Alexander Disease Type I	Failure to thrive, Vomiting, Cachexia, Dysphagia	ORPHA:363717
Donohue Syndrome	Precocious puberty, Adipose tissue loss, Long penis, Hyperinsulinemia, Pancreatic islet-cell hype...	OMIM:246200
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Increased level of hippuric acid in urine, Hypoglycemia, Glutaric aciduria, 3-Methylglutaric acid...	OMIM:246450
Autism, Susceptibility To, 3	Ketonuria, Increased serum serotonin	OMIM:608049
Holocarboxylase Synthetase Deficiency	Organic aciduria, Weight loss	ORPHA:79242
Huntington Disease-Like 2	Weight loss	OMIM:606438
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Dicarboxylic aciduria, Diarrhea, Fasting hyperinsulinemia, Hypoglycemic seizures, Vomiting, Hyper...	ORPHA:71212
Bangstad Syndrome	Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Small for gestational age, Go...	OMIM:210740
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Proteinuria, Hypoperistalsis, Chronic kidney disease, Stage 5 chronic kidney disease, Weight loss...	ORPHA:1018
Perlman Syndrome	Inguinal hernia, Hypoplasia of penis, Femoral hernia, Hyperinsulinemia, Nephroblastoma	ORPHA:2849
Fatal Familial Insomnia	Constipation, Weight loss, Urinary retention, Dysphagia	OMIM:600072
Tubulointerstitial Nephritis And Uveitis Syndrome	Chorioretinal scar, Elevated circulating creatinine concentration, Renal neutrophilic tubulitis, ...	ORPHA:91500
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Hypoglycemia, Lacticaciduria, Tubulointerstitial nephritis, Aminoaciduria, Recu...	OMIM:124000
Igg4-Related Retroperitoneal Fibrosis	Renal insufficiency, Dysuria, Hashimoto thyroiditis, Elevated circulating creatinine concentratio...	ORPHA:49041
Inflammatory Pseudotumor Of The Liver	Diabetes mellitus, Vomiting, Nausea, Weight loss	ORPHA:90003
Oculopharyngodistal Myopathy	Impaired oropharyngeal swallow response, Weight loss, Oral-pharyngeal dysphagia	ORPHA:98897
Hyperlysinemia	Argininuria, Cystinuria, Decreased urine alpha-ketoglutarate concentration, Hyperlysinuria, Vomit...	ORPHA:2203
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:411515
Pleural Mesothelioma	Weight loss, Dysphagia	ORPHA:50251
Ermine Phenotype	Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Irregular hyperpigmentatio...	ORPHA:999
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Elevated urinary 3-hydroxybutyric acid, Ketonuria, Hypoglycemia, Episodic vomiting, Lacticaciduri...	OMIM:615751
Familial Multiple Lipomatosis	Insulin resistance, Lipodystrophy, Increased adipose tissue	ORPHA:199276
Canavan Disease	Elevated urinary N-acetylaspartic acid level	OMIM:271900
Mitochondrial Neurogastrointestinal Encephalomyopathy	Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, Cachexia, Diarrhea, Weight loss, G...	ORPHA:298
Congenital Muscular Dystrophy Due To Lmna Mutation	Flexion contracture, Cachexia	ORPHA:157973
Beta-Ketothiolase Deficiency	Ketonuria, Hypoglycemia, Diarrhea, Weight loss, Vomiting, Hyperglycemia	ORPHA:134
Tryptophanuria With Dwarfism	Tryptophanuria	OMIM:276100
Lysinuric Protein Intolerance	Failure to thrive, Proteinuria, Glomerulonephritis, Decreased response to growth hormone stimulat...	ORPHA:470
Lipodystrophy, Familial Partial, Type 2	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,...	OMIM:151660
Glutaric Acidemia I	Glutaric aciduria, Failure to thrive, Ketonuria, Hypoglycemia	OMIM:231670
Peritoneal Cystic Mesothelioma	Peritonitis, Constipation, Weight loss	ORPHA:168816
Diffuse Alveolar Hemorrhage	Hematuria, Weight loss, Elevated circulating creatinine concentration, Proteinuria	ORPHA:90060
Bardet-Biedl Syndrome 1	Diabetes mellitus, Abnormality of the kidney, Nephrogenic diabetes insipidus, Insulin resistance,...	OMIM:209900
Oculocutaneous Albinism Type 1A	Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri...	ORPHA:79431
Mpi-Cdg	Gastrointestinal hemorrhage, Diarrhea, Vomiting, Hyperinsulinemic hypoglycemia, Failure to thrive...	ORPHA:79319
Griscelli Syndrome Type 2	Premature graying of hair, Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79477
Bloom Syndrome	Recurrent urinary tract infections, Diabetes mellitus, Small for gestational age, Adipose tissue ...	ORPHA:125
Hartnup Disease	Abnormal urinary color, Neutral hyperaminoaciduria	ORPHA:2116
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Ketonuria, Hypoglycemia, Renal steatosis, Fasting hypoglycemia, Impaired gluconeogenesis	OMIM:261680
Isolated Succinate-Coq Reductase Deficiency	Vesicoureteral reflux, Weight loss, Knee flexion contracture	ORPHA:3208
Albinism, Oculocutaneous, Type Ia	Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb...	OMIM:203100
Addison Disease	Hypoparathyroidism, Decreased circulating cortisol level, Hypoglycemia, Adrenal calcification, Ad...	ORPHA:85138
Renpenning Syndrome	Diabetes mellitus, Hypospadias, Cachexia	ORPHA:3242
Bone Dysplasia, Lethal Holmgren Type	Diarrhea, Failure to thrive, Hernia, Weight loss	ORPHA:1842
Cidec-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Decreased adiponectin level, Decreas...	ORPHA:435651
Flynn-Aird Syndrome	Abnormality of the thyroid gland, Primary adrenal insufficiency, Type II diabetes mellitus, Cachexia	ORPHA:2047
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Decreased circulating cortisol level, Renal salt wasting, Vomiting, Premature adrenarche, Hypogon...	ORPHA:90794
Focal Myositis	Weight loss	ORPHA:48918
Combined Oxidative Phosphorylation Deficiency 14	Aminoaciduria	OMIM:614946
D-Glyceric Aciduria	Hyperglycinuria	ORPHA:941
Molybdenum Cofactor Deficiency, Complementation Group B	Xanthine nephrolithiasis, Increased urinary sulfite level, Xanthinuria, Increased urinary taurine...	OMIM:252160
Eosinophilic Fasciitis	Fasciitis, Weight loss, Cellulitis	ORPHA:3165
Congenital Enterocyte Heparan Sulfate Deficiency	Hematochezia, Diarrhea, Weight loss	ORPHA:103910
Renal Nutcracker Syndrome	Proteinuria, Weight loss, Hematuria, Renal artery stenosis, Microscopic hematuria, Nausea	ORPHA:71273
Generalized Pseudohypoaldosteronism Type 1	Failure to thrive in infancy, Glucocortocoid-insensitive primary hyperaldosteronism, Weight loss,...	ORPHA:171876
Juvenile Huntington Disease	Weight loss	ORPHA:248111
Malignant Peritoneal Mesothelioma	Peritonitis, Ileus, Weight loss	ORPHA:168811
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Gastroesophageal reflux, Renal artery stenosis...	OMIM:617913
Polyarteritis Nodosa	Abnormality of the kidney, Weight loss	ORPHA:767
Follicular Lymphoma	Weight loss	ORPHA:545
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Diarrhea, Abnormality of the kidney, Weight loss	ORPHA:54251
Christianson Syndrome	Arthrogryposis multiplex congenita, Gastroesophageal reflux, Cachexia, Dysphagia	ORPHA:85278
Waardenburg Syndrome, Type 4C	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:613266
Al Amyloidosis	Gastrointestinal hemorrhage, Renal insufficiency, Proteinuria, Abnormality of the kidney, Gastrop...	ORPHA:85443
Simple Cryoglobulinemia	Gastrointestinal hemorrhage, Renal insufficiency, Membranoproliferative glomerulonephritis, Prote...	ORPHA:91139
Acrodysostosis 2 With Or Without Hormone Resistance	Red hair, Fair hair, Hypospadias, Blue irides	OMIM:614613
Citrullinemia, Type Ii, Adult-Onset	Argininosuccinic aciduria	OMIM:603471
Acute Monoblastic/Monocytic Leukemia	Central hypothyroidism, Oliguria, Weight loss	ORPHA:514
Riboflavin Transporter Deficiency	Hypogonadism, Diabetes insipidus, Cachexia, Dysphagia	ORPHA:97229
Hermansky-Pudlak Syndrome 1	Renal insufficiency, Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular al...	OMIM:203300
Aicardi-Goutieres Syndrome 9	Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Stage 5 chronic kidney dise...	OMIM:619487
Secondary Short Bowel Syndrome	Diarrhea, Enterocolitis, Weight loss, Central hypothyroidism, Constipation, Vomiting, Primary hyp...	ORPHA:95427
Tropical Pancreatitis	Maternal diabetes, Insulin-dependent but ketosis-resistant diabetes, Weight loss, Vomiting, Nausea	ORPHA:103918
Mast Cell Sarcoma	Weight loss	ORPHA:66661
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Hyperthyroidism, Small for gestational age, Diarrhea, Thyrotoxicosis with diffuse goiter, Activat...	ORPHA:424
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Osteootohepatoenteric Syndrome	Proteinuria, Secretory diarrhea, Grade II vesicoureteral reflux, Weight loss, Failure to thrive, ...	OMIM:619377
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Goiter, Hyperthyroidism, Weight loss	OMIM:188580
Multiple Endocrine Neoplasia Type 1	Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t...	ORPHA:652
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Reduced renal corticomedullary differentiation, Hypopigmentation of hair, Cafe-au-lait spot, Hypo...	OMIM:618541
Argininemia	Episodic vomiting, Diaminoaciduria, Oroticaciduria, Vomiting	OMIM:207800
Neuroendocrine Tumor Of The Colon	Weight loss, Melena, Protracted diarrhea, Bloody diarrhea, Atypical pulmonary carcinoid tumor, In...	ORPHA:100080
Alstrom Syndrome	Renal insufficiency, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimula...	OMIM:203800
Neuroendocrine Tumor Of The Rectum	Protracted diarrhea, Hematochezia, Melena, Bloody diarrhea, Weight loss, Constipation, Atypical p...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Protracted diarrhea, Hematochezia, Melena, Bloody diarrhea, Weight loss, Constipation, Atypical p...	ORPHA:100082
Ataxia-Telangiectasia	Premature graying of hair, Hypopigmentation of hair, Multiple cafe-au-lait spots	ORPHA:100
Waardenburg Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Pre...	ORPHA:3440
Late-Onset Isolated Acth Deficiency	Hypoparathyroidism, Decreased circulating cortisol level, Hypoglycemia, Diarrhea, Pituitary adeno...	ORPHA:199299
Ménétrier Disease	Gastrointestinal hemorrhage, Nausea, Diarrhea, Weight loss, Gastroesophageal reflux, Vomiting, Gi...	ORPHA:2494
Perry Syndrome	Weight loss	ORPHA:178509
Carney Complex, Type 1	Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism	OMIM:160980
Somatostatinoma	Gastrointestinal hemorrhage, Intestinal obstruction, Diabetes mellitus, Elevated circulating grow...	ORPHA:97283
Xfe Progeroid Syndrome	Renal insufficiency, Proteinuria, Cachexia, Absence of subcutaneous fat, Corneal scarring, Enamel...	OMIM:610965
Pemphigus Vulgaris	Atypical scarring of skin, Weight loss	ORPHA:704
Anaplastic Thyroid Carcinoma	Weight loss, Anaplastic thyroid carcinoma, Dysphagia, Nodular goiter, Goiter	ORPHA:142
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Nephrocalcinosis, Aminoaciduria	OMIM:616084
Imerslund-Gräsbeck Syndrome	Proteinuria, Weight loss, Constipation, Vomiting, Failure to thrive	ORPHA:35858
Histidinemia	Histidinuria, Hyperhistidinemia	ORPHA:2157
Drug Reaction With Eosinophilia And Systemic Symptoms	Renal insufficiency, Thyroiditis, Weight loss, Tubulointerstitial nephritis, Nephrotic syndrome	ORPHA:139402
Eosinophilic Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Intestinal obstruction, Proteinuria, Weight loss, Hematuria,...	ORPHA:183
Allergic Bronchopulmonary Aspergillosis	Weight loss	ORPHA:1164
Pfapa Syndrome	Weight loss	ORPHA:42642
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	3-hydroxydicarboxylic aciduria, Increased urine alpha-ketoglutarate concentration, Dicarboxylic a...	OMIM:619355
Aromatase Deficiency	Eunuchoid habitus, Hypergonadotropic hypogonadism, Insulin resistance, Obesity, Type II diabetes ...	ORPHA:91
Orotic Aciduria	Hematuria, Failure to thrive, Oroticaciduria, Orotic acid crystalluria	OMIM:258900
Marbach-Rustad Progeroid Syndrome	Reduced subcutaneous adipose tissue, Insulin resistance	OMIM:619322
Celiac Disease, Susceptibility To, 1	Diarrhea, Thyroiditis, Weight loss, Vomiting, Recurrent aphthous stomatitis, Type I diabetes mell...	OMIM:212750
Histidinemia	Histidinuria, Hyperhistidinemia	OMIM:235800
Thymic Carcinoma	Neoplasm of the thymus, Weight loss	ORPHA:99868
Methylmalonic Aciduria, Cbla Type	Ketonuria, Elevated urine 3-hydroxypropionic acid level, Methylmalonic aciduria, Vomiting, Elevat...	OMIM:251100
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Hip contracture, Constipation, Failure to thrive in infancy, Cachexia	OMIM:616801
Polymyositis	Gastrointestinal hemorrhage, Weight loss, Constipation, Gastroesophageal reflux, Chondrocalcinosi...	ORPHA:732
Bronchial Neuroendocrine Tumor	Elevated circulating growth hormone concentration, Increased circulating ACTH level, Weight loss,...	ORPHA:97287
Eosinophilic Gastroenteritis	Diarrhea, Steatorrhea, Weight loss, Hematochezia, Vomiting, Dysphagia	ORPHA:2070
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Limb joint contracture, Small for gestational age, Achilles tendon contracture, Generalized amino...	ORPHA:404454
Ring Chromosome 10 Syndrome	Cachexia, Renal hypoplasia/aplasia	ORPHA:1438
3-Hydroxy-3-Methylglutaric Aciduria	Nonketotic hypoglycemia, Ketonuria, Diarrhea, Weight loss, 3-Methylglutaric aciduria, Recurrent h...	ORPHA:20
Igg4-Related Aortitis	Intestinal obstruction, Hydronephrosis, Weight loss	ORPHA:449400
Immunodeficiency 27A	Diarrhea, Weight loss	OMIM:209950
Benign Recurrent Intrahepatic Cholestasis	Chronic diarrhea, Weight loss	ORPHA:65682
Pelizaeus-Merzbacher Disease	Cachexia, Abnormality of the urinary system, Failure to thrive in infancy, Bowel incontinence	ORPHA:702
Primary Hyperoxaluria	Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic kidney disease, Stage 5 chronic...	ORPHA:416
Estrogen Resistance	Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ...	OMIM:615363
D-Lactic Aciduria With Gout	Inguinal hernia, Lacticaciduria	OMIM:245450
Familial Gestational Hyperthyroidism	Hyperthyroidism, Diarrhea, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hor...	ORPHA:99819
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Hypopigmentation of hair, Hypopigmented skin patches, Multiple cafe-au-lait spots, Freckling, Hyp...	ORPHA:3214
X-Linked Agammaglobulinemia	Weight loss, Failure to thrive, Chronic diarrhea, Cellulitis	ORPHA:47
Mandibuloacral Dysplasia With Type B Lipodystrophy	Insulin resistance, Delayed puberty, Generalized lipodystrophy	ORPHA:90154
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Homocystinuria, Methylmalonic aciduria	OMIM:277410
Huntington Disease	Weight loss, Decreased body mass index, Oral-pharyngeal dysphagia	ORPHA:399
Molybdenum Cofactor Deficiency, Complementation Group C	Increased urinary taurine	OMIM:615501
Ppoma	Gastrointestinal hemorrhage, Intestinal obstruction, Elevated circulating growth hormone concentr...	ORPHA:97278
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss	ORPHA:312
Mcdonough Syndrome	Cachexia	ORPHA:2471
Liver Disease, Severe Congenital	Chronic gastritis, Recurrent urinary tract infections, Inguinal hernia, Hypospadias, Abnormal cir...	OMIM:619991
Muenke Syndrome	Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule	ORPHA:53271
Carney-Stratakis Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Weight loss, Paraganglioma, Dysphagia	ORPHA:97286
Methylmalonic Aciduria, Cblb Type	Failure to thrive, Ketonuria, Vomiting, Methylmalonic aciduria	OMIM:251110
Xeroderma Pigmentosum	Aminoaciduria, Failure to thrive, Hypogonadism	ORPHA:910
Vipoma	Diabetes mellitus, Follicular thyroid carcinoma, Elevated circulating growth hormone concentratio...	ORPHA:97282
Wolman Disease	Adrenal insufficiency, Adrenal calcification, Cachexia, Steatorrhea	ORPHA:75233
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hypopigmentation of hair	ORPHA:70472
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Failure to thrive, Homocystinuria	ORPHA:395
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Panniculitis, Weight loss	ORPHA:86884
Kaposi Sarcoma	Diarrhea, Weight loss	ORPHA:33276
Thyrotoxic Periodic Paralysis	Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Decreased urinary potassium, Th...	ORPHA:79102
Neuroendocrine Tumor Of Stomach	Hematemesis, Increased circulating ACTH level, Protracted diarrhea, Melena, Bloody diarrhea, Weig...	ORPHA:100075
Glucagonoma	Gastrointestinal hemorrhage, Intestinal obstruction, Diabetes mellitus, Elevated circulating grow...	ORPHA:97280
Paget Disease Of Bone 2, Early-Onset	Hydroxyprolinuria	OMIM:602080
Igg4-Related Kidney Disease	Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nephritis, Abnorma...	ORPHA:449395
Pulmonary Non-Tuberculous Mycobacterial Infection	Diarrhea, Weight loss	ORPHA:411703
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia	ORPHA:1389
Desmoplastic Small Round Cell Tumor	Ileus, Cachexia, Weight loss	ORPHA:83469
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Elevated urine acetoacetic acid level, 3-Methylglutaconic aciduria, Alpha-aminoadipic aciduria	OMIM:620089
Classic Phenylketonuria	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:79254
Poems Syndrome	Diabetes mellitus, Lipodystrophy, Abnormality of the endocrine system, Primary adrenal insufficie...	ORPHA:2905
Osteosarcoma	Weight loss	ORPHA:668
Multiple Myeloma	Elevated circulating creatinine concentration, Abnormality of the bladder, Weight loss, Nephrotic...	ORPHA:29073
Symptomatic Form Of Hfe-Related Hemochromatosis	Decreased serum testosterone concentration, Diabetes mellitus, Hypogonadotropic hypogonadism, Wei...	ORPHA:465508
Pyomyositis	Renal insufficiency, Weight loss	ORPHA:764
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Slow-growing hair, Nephrotic syndrome, Aplasia/Hypoplasia of the eyebrow,...	ORPHA:238468
Neuropathy, Congenital Hypomyelinating, 3	Limb joint contracture, Cachexia, Flexion contracture, Gastroesophageal reflux, Arthrogryposis mu...	OMIM:618186
Castleman Disease	Renal insufficiency, Intestinal obstruction, Weight loss, Hematuria, Ureteral obstruction	ORPHA:160
Richards-Rundle Syndrome	Ketonuria, Hypergonadotropic hypogonadism	ORPHA:1399
Congenital Tufting Enteropathy	Chronic diarrhea, Secretory diarrhea, Weight loss, Vomiting, Steatorrhea, Failure to thrive	ORPHA:92050
Grfoma	Gastrointestinal hemorrhage, Intestinal obstruction, Elevated circulating growth hormone concentr...	ORPHA:97261
Waardenburg Syndrome, Type 2E	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Ocular albinism, Prematu...	OMIM:611584
Huntington Disease-Like 1	Weight loss	ORPHA:157941
X-Linked Acrogigantism	Decreased thyroid-stimulating hormone level, Increased body mass index, Enlarged pituitary gland,...	ORPHA:300373
Felty Syndrome	Recurrent urinary tract infections, Weight loss, Cellulitis	ORPHA:47612
Alkaptonuria	Aminoaciduria, Nephrolithiasis	ORPHA:56
Acute Promyelocytic Leukemia	Hematuria, Stomatitis, Weight loss	ORPHA:520
X-Linked Intellectual Disability, Armfield Type	Aminoaciduria, Organic aciduria, Inguinal hernia, Galactosuria	ORPHA:85276
Squalene Synthase Deficiency	Hypospadias, Abnormality of hair pigmentation	OMIM:618156
Bangstad Syndrome	Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri...	ORPHA:1227
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Hip contracture, Cachexia, Elbow flexion contracture, Knee flexion contracture, Constipation, Sev...	ORPHA:371364
Developmental And Epileptic Encephalopathy 50	Failure to thrive, Diarrhea, Renal tubular acidosis, Dysphagia, Oroticaciduria	OMIM:616457
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Hyperthyroidism, Gastritis, Failure to thrive in infancy, Cachexia, Abnormality of the endocrine ...	ORPHA:37042
Lipodystrophy, Congenital Generalized, Type 1	Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Reduced intraabdominal adi...	OMIM:608594
Thymoma	Neoplasm of the thyroid gland, Glomerulonephritis, Ulcerative colitis, Weight loss	ORPHA:99867
Classic Hodgkin Lymphoma	Weight loss	ORPHA:391
Hoyeraal-Hreidarsson Syndrome	Sparse scalp hair, Generalized hyperpigmentation, Premature graying of hair, Nail dystrophy, Gene...	ORPHA:3322
Classic Pantothenate Kinase-Associated Neurodegeneration	Weight loss, Dysphagia	ORPHA:216866
Mandibuloacral Dysplasia With Type A Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,...	OMIM:248370
Estrogen Resistance Syndrome	Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline...	ORPHA:785
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:98795
Familial Colorectal Cancer Type X	Gastrointestinal hemorrhage, Renal neoplasm, Pituitary adenoma, Flexion contracture, Weight loss,...	ORPHA:440437
Nodular Non-Suppurative Panniculitis	Panniculitis, Weight loss	ORPHA:33577
Takayasu Arteritis	Weight loss	ORPHA:3287
Chronic Beryllium Disease	Weight loss	ORPHA:133
Lymphoid Interstitial Pneumonia	Failure to thrive, Abnormality of connective tissue, Enlarged kidney, Weight loss	ORPHA:79128
Lysosomal Acid Lipase Deficiency	Adrenal calcification, Cachexia, Renal salt wasting, Diarrhea, Abnormal urine potassium concentra...	ORPHA:275761
Juvenile Amyotrophic Lateral Sclerosis	Urinary incontinence, Cachexia, Upper-limb joint contracture, Lower-limb joint contracture, Dysph...	ORPHA:300605
Giant Cell Arteritis	Hematuria, Renal insufficiency, Diabetes insipidus, Weight loss	ORPHA:397
Idiopathic Bronchiectasis	Cachexia	ORPHA:60033
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Ileal Neuroendocrine Tumor	Nausea, Weight loss, Small intestine carcinoid, Increased serum serotonin, Intermittent diarrhea,...	ORPHA:100078
Mandibuloacral Dysplasia With Type A Lipodystrophy	Insulin resistance, Flexion contracture	ORPHA:90153
Oromandibular Dystonia	Weight loss, Dysphagia	ORPHA:93958
Thalidomide Embryopathy	Insulin resistance	ORPHA:3312
Leishmaniasis	Weight loss	ORPHA:507
Lipodystrophy, Congenital Generalized, Type 2	Reduced subcutaneous adipose tissue, Lipodystrophy, Reduced intraabdominal adipose tissue, Decrea...	OMIM:269700
Cronkhite-Canada Syndrome	Diarrhea, Cachexia	ORPHA:2930
Kanzaki Disease	Increased urinary O-linked sialopeptides, Aminoaciduria	OMIM:609242
Hereditary Late-Onset Parkinson Disease	Chronic constipation, Weight loss, Spastic/hyperactive bladder, Dysphagia	ORPHA:411602
Wilson Disease	Failure to thrive, Increased body weight, Weight loss	ORPHA:905
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Renal insufficiency, Dysuria, Abnormality of the urethra, Diarrhea, ...	ORPHA:36426
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Gastroparesis, Cachexia, Diarrhea, Weight loss, Constipation, Vomiting, Dysphagia, Intermittent d...	OMIM:603041
Amoebiasis Due To Entamoeba Histolytica	Intestinal obstruction, Diarrhea, Protracted diarrhea, Bloody diarrhea, Weight loss, Acute colitis	ORPHA:67
Primary Hepatic Neuroendocrine Carcinoma	Diarrhea, Weight loss, Increased serum serotonin, Carcinoid tumor, Nausea, Neuroendocrine neoplasm	ORPHA:100085
8P23.1 Microdeletion Syndrome	Hypospadias, Obesity, Congenital diaphragmatic hernia, Weight loss	ORPHA:251071
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Neoplasm of the thymus, Pancreatic end...	ORPHA:99889
Familial Pancreatic Carcinoma	Intermittent diarrhea, Diabetes mellitus, Weight loss, Exocrine pancreatic insufficiency	ORPHA:1333
Angelman Syndrome Due To A Point Mutation	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:411511
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Red hair	OMIM:609734
Deafness-Lymphedema-Leukemia Syndrome	Weight loss	ORPHA:3226
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Diarrhea, Weight loss	ORPHA:98850
Gm1 Gangliosidosis	Inguinal hernia, Camptodactyly of finger, Weight loss, Gastroesophageal reflux, Dysphagia, Failur...	ORPHA:354
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Peritonitis, Weight loss	ORPHA:131
Microsporidiosis	Cachexia, Peritonitis, Urethritis, Chronic diarrhea, Abnormality of the parathyroid gland, Thyroi...	ORPHA:2552
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Inflammation of the large intestine, Weight loss	ORPHA:324964
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Peritonitis, Abnormality of the lower urinary tract, Weight loss	ORPHA:679
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Weight loss	ORPHA:79127
Reactive Arthritis	Recurrent urinary tract infections, Diarrhea, Enthesitis, Weight loss, Inflammation of the large ...	ORPHA:29207
X-Linked Intellectual Disability, Cabezas Type	Hypoplasia of penis, Inguinal hernia, Camptodactyly of finger, Cachexia, Obesity, Hypogonadism	ORPHA:85293
Granulomatosis With Polyangiitis	Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria,...	ORPHA:900
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia, Diarrhea, Xerostomia, Hematochezia, Vomiting	OMIM:175500
Erdheim-Chester Disease	Renal insufficiency, Hypogonadotropic hypogonadism, Dysuria, Weight loss, Diabetes insipidus, Hyd...	ORPHA:35687
Tetrasomy 12P	Cachexia	ORPHA:884
Steinert Myotonic Dystrophy	Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati...	ORPHA:273
Koolen-De Vries Syndrome	Ureteral duplication, Hypopigmentation of hair, Hypospadias, Abnormality of hair texture, Vesicou...	ORPHA:96169
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Ketonuria, Renal hypoplasia	OMIM:619053
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Ketonuria, Hypoglycemia, Premature thelarche, Oral-pharyngeal dysphagia, Myoglobinuria, Hypothyro...	OMIM:616878
19Q13.11 Microdeletion Syndrome	Failure to thrive, Hypospadias, Cachexia	ORPHA:217346
Tsh-Secreting Pituitary Adenoma	Elevated circulating thyroid-stimulating hormone concentration, Vomiting, Male hypogonadism, Hype...	ORPHA:91347
Brittle Cornea Syndrome 1	Red hair	OMIM:229200
Citrullinemia, Classic	Failure to thrive, Oroticaciduria, Vomiting	OMIM:215700
Oculogastrointestinal Muscular Dystrophy	Gastroparesis, Cachexia	ORPHA:1876
X-Linked Creatine Transporter Deficiency	Ileus, Constipation, Cachexia	ORPHA:52503
Cryptogenic Organizing Pneumonia	Weight loss	ORPHA:1302
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Renal insufficiency, Dysuria, Abnormality of the urethra, Weight los...	ORPHA:537
Lynch Syndrome	Gastrointestinal hemorrhage, Pituitary adenoma, Flexion contracture, Weight loss, Constipation, N...	ORPHA:144
Perry Syndrome	Weight loss	OMIM:168605
Rheumatoid Arthritis	Weight loss	OMIM:180300
Cystic Echinococcosis	Membranous nephropathy, Renal cyst, Weight loss	ORPHA:400
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Chronic diarrhea, Failure to thrive, Oroticaciduria, Dysphagia	OMIM:620358
Laryngotracheoesophageal Cleft Type 4	Cachexia	ORPHA:93941
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Glomerulopathy, Renal insufficiency, Ketonuria, Hypoglycemia, Hemolytic-uremic syndrome, Methylma...	ORPHA:79282
Idiopathic Chronic Eosinophilic Pneumonia	Weight loss	ORPHA:2902
Refractory Celiac Disease	Chronic diarrhea, Weight loss	ORPHA:398063
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	3-Methylglutaconic aciduria, Myoglobinuria, Ketonuria, Hypothyroidism	OMIM:251900
Pmm2-Cdg	Multiple joint contractures, Proteinuria, Lipodystrophy, Hypogonadotropic hypogonadism, Elevated ...	ORPHA:79318
Rett Syndrome	Constipation, Gastroesophageal reflux, Cachexia	OMIM:312750
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Renal insufficiency, Abnormal dental enamel morphology, Weight loss	ORPHA:79430
Hutchinson-Gilford Progeria Syndrome	Female hypogonadism, Decreased serum leptin, Insulin resistance, Absence of subcutaneous fat, Wei...	ORPHA:740
Loeffler Endocarditis	Weight loss	ORPHA:75566
Prader-Willi Syndrome	Failure to thrive in infancy, Hypogonadotropic hypogonadism, Decreased response to growth hormone...	OMIM:176270
Atypical Werner Syndrome	Renal neoplasm, Failure to thrive, Diabetes mellitus, Lipoatrophy, Abnormal circulating leptin co...	ORPHA:79474
Pancreatoblastoma	Diarrhea, Vomiting, Weight loss	ORPHA:677
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Ketonuria, Hypoglycemia, Hypoglycemic seizures, Dysphagia, Compensated hypothyroidism	ORPHA:480864
Alveolar Echinococcosis	Renal cyst, Weight loss, Vomiting, Abnormal adrenal morphology, Abnormal bladder morphology	ORPHA:284
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Chronic diarrhea, Cachexia, Steatorrhea	ORPHA:3217
Immunodeficiency 31C	Diabetes mellitus, Diarrhea, Weight loss, Delayed puberty, Hypothyroidism	OMIM:614162
Acrodermatitis Enteropathica	Failure to thrive, Chronic diarrhea, Weight loss	ORPHA:37
Anemia, Congenital Dyserythropoietic, Type Iv	Hypothyroidism, Micropenis, Hypospadias, Weight loss	OMIM:613673
Caroli Disease	Vomiting, Nausea, Polycystic kidney dysplasia, Weight loss	ORPHA:53035
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:98794
Chediak-Higashi Syndrome	Hypopigmentation of hair, Silver-gray hair, Ocular albinism, Giant melanosomes in melanocytes, Hy...	OMIM:214500
Goodpasture Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Weight loss, Glomerular cresce...	OMIM:233450
Glossopharyngeal Neuralgia	Weight loss, Oral-pharyngeal dysphagia	ORPHA:221098
Pneumocystosis	Weight loss	ORPHA:723
Alström Syndrome	Urinary incontinence, Decreased response to growth hormone stimulation test, Functional abnormali...	ORPHA:64
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia	ORPHA:66518
Gallbladder Neuroendocrine Tumor	Neuroendocrine neoplasm, Nausea, Weight loss	ORPHA:100086
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Hematemesis, Diarrhea, Bloody diarrhea, Hematochezia, Nephrotic syndrome, Wei...	OMIM:615846
Postinfectious Vasculitis	Membranoproliferative glomerulonephritis, Proteinuria, Glomerulonephritis, Gastrointestinal infla...	ORPHA:48435
Infantile Krabbe Disease	Gastroesophageal reflux, Failure to thrive, Vomiting, Cachexia	ORPHA:206436
Bannayan-Riley-Ruvalcaba Syndrome	Neoplasm of the adrenal cortex, Hypoglycemia, Cachexia, Thyroid carcinoma, Lipoma, Hashimoto thyr...	ORPHA:109
Cockayne Syndrome	Reduced subcutaneous adipose tissue, Neurogenic bladder, Renal insufficiency, Proteinuria, Urinar...	ORPHA:191
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Diarrhea, Weight loss, Chronic constipation, Inflammation of the large intesti...	OMIM:301074
Primary Intestinal Lymphangiectasia	Chronic diarrhea, Weight loss	ORPHA:90362
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Ketonuria, Lacticaciduria	OMIM:619167
Klatskin Tumor	Weight loss	ORPHA:99978
Syndromic Diarrhea	Hypopigmentation of hair, Brittle hair, Renal hypoplasia, Polycystic kidney dysplasia, Uncombable...	ORPHA:84064
Malt Lymphoma	Abnormality of the thyroid gland, Constipation, Weight loss	ORPHA:52417
Primary Sclerosing Cholangitis	Renal insufficiency, Thyroiditis, Ulcerative colitis, Weight loss, Type I diabetes mellitus	ORPHA:171
Peripheral Primitive Neuroectodermal Tumor	Precocious puberty, Weight loss	ORPHA:370348
Pancreatic Triacylglycerol Lipase Deficiency	Diarrhea, Weight loss, Colitis, Steatorrhea, Exocrine pancreatic insufficiency	ORPHA:309031
Riddle Syndrome	Diarrhea, Weight loss, Enuresis nocturna	ORPHA:420741
Fanconi Anemia	Recurrent urinary tract infections, Hydroureter, Hypospadias, Renal insufficiency, Renal hypoplas...	ORPHA:84
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Ureteral stenosis, Ocular albinism, Abnormality of the urinary system, ...	ORPHA:2719
Q Fever	Hematuria, Weight loss	ORPHA:781
Trisomy 18	Omphalocele, Camptodactyly of finger, Congenital diaphragmatic hernia, Abnormality of the upper u...	ORPHA:3380
Primary Myelofibrosis	Cachexia	ORPHA:824
Gerstmann-Straussler Disease	Weight loss	OMIM:137440
Polycythemia Vera	Gastrointestinal hemorrhage, Weight loss	ORPHA:729
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Abnormal eyebrow morphology, Hypopigmentation of hair, Hypopigmented skin patches, Premature gray...	ORPHA:163746
Systemic Mastocytosis With Associated Hematologic Neoplasm	Diarrhea, Nausea, Weight loss	ORPHA:98849
Schwartz-Jampel Syndrome	Hip contracture, Inguinal hernia, Shoulder flexion contracture, Cachexia, Abnormality of the uret...	ORPHA:800
Woodhouse-Sakati Syndrome	Decreased serum testosterone concentration, Streak ovary, Decreased response to growth hormone st...	ORPHA:3464
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Weight loss, Constipation, Dysphagia	ORPHA:93672
Chronic Graft Versus Host Disease	Fasciitis, Phimosis, Urinary bladder inflammation, Diarrhea, Flexion contracture, Xerostomia, Wei...	ORPHA:99921
Congenital Fiber-Type Disproportion Myopathy	Hip contracture, Failure to thrive, Ankle flexion contracture, Flexion contracture, Elbow flexion...	ORPHA:2020
Brittle Cornea Syndrome	Abnormality of hair pigmentation	ORPHA:90354
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertyrosinemia, Gastrointestinal hemorrhage, Increased urinary glycerol, Ketonuria, Failure to ...	ORPHA:247598
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Aciduria, 3-Methylglutaconic aciduria, Vomiting, Ethylmalonic aciduria, Failure to thrive	OMIM:203700
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Homocystinuria	OMIM:601552
Autoimmune Pulmonary Alveolar Proteinosis	Weight loss	ORPHA:747
Sim1-Related Prader-Willi-Like Syndrome	Micropenis, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:398079
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Weight loss, Gastroparesis, Dysphagia	OMIM:607459
Autosomal Recessive Faciodigitogenital Syndrome	Dry hair, Coarse hair, Hypopigmentation of hair, Widow's peak	ORPHA:1974
Pulmonary Alveolar Microlithiasis	Hematuria, Calcium nephrolithiasis, Weight loss	ORPHA:60025
Sarcoidosis	Renal insufficiency, Hyperthyroidism, Diabetes insipidus, Scarring, Nephrolithiasis, Hypercalciur...	ORPHA:797
Juvenile Polyposis Of Infancy	Gastrointestinal hemorrhage, Cachexia, Diarrhea, Hematochezia, Melena, Intestinal bleeding, Subcu...	ORPHA:79076
Turner Syndrome Due To Structural X Chromosome Anomalies	Failure to thrive in infancy, High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic ...	ORPHA:99413
Turner Syndrome	Failure to thrive in infancy, High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic ...	ORPHA:881
Mosaic Monosomy X	Failure to thrive in infancy, High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic ...	ORPHA:99228
Monosomy X	Failure to thrive in infancy, High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic ...	ORPHA:99226
Igg4-Related Dacryoadenitis And Sialadenitis	Xerostomia, Thyroiditis, Weight loss, Tubulointerstitial nephritis, Nodular goiter	ORPHA:79078
Behçet Disease	Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Weight loss, Recurrent aphthous...	ORPHA:117
Rat-Bite Fever	Diarrhea, Vomiting, Parotitis, Weight loss	ORPHA:31205
Prader-Willi Syndrome Due To Translocation	Hypopigmentation of hair, Abnormality of the kidney, Stellate iris, Hypopigmentation of the skin,...	ORPHA:177907
Degcags Syndrome	Abnormal eyebrow morphology, Recurrent urinary tract infections, Hypopigmentation of hair, Hyposp...	OMIM:619488
African Trypanosomiasis	Renal insufficiency, Urinary incontinence, Abnormality of the endocrine system, Diarrhea, Weight ...	ORPHA:3385
Brucellosis	Small for gestational age, Glomerulonephritis, Weight loss, Intrarenal abscess, Vomiting, Failure...	ORPHA:1304
Aspartylglucosaminuria	Diarrhea, Aspartylglucosaminuria, Hernia	OMIM:208400
Camurati-Engelmann Disease	Cachexia, Abnormal subcutaneous fat tissue distribution, Urinary retention, Hypogonadism, Delayed...	ORPHA:1328
Magel2-Related Prader-Willi-Like Syndrome	Micropenis, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:398069
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Inguinal hernia, Ketonuria, Hypospadias, Small for gestational age, Hypoglycemia, Vomiting, Dysph...	OMIM:220111
Mucolipidosis Type Ii	Hip contracture, Inguinal hernia, Weight loss, Knee flexion contracture, Umbilical hernia	ORPHA:576
Familial Thrombocytosis	Weight loss	ORPHA:71493
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Weight loss, Flexion contracture, Enthesitis	ORPHA:85408
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Hypercalciuria, Weight loss	OMIM:181000
Vici Syndrome	Hypopigmentation of hair, Albinism, Ocular albinism, Penile hypospadias, Hypopigmentation of the ...	OMIM:242840
Nocardiosis	Peritonitis, Thyroiditis, Weight loss, Abnormality of the adrenal glands, Vomiting, Cellulitis	ORPHA:31204
Seckel Syndrome	Abnormal dental enamel morphology, Cachexia	ORPHA:808
Chédiak-Higashi Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, Large clumps of pigment irregularl...	ORPHA:167
Scorpion Envenomation	Ketonuria, Diarrhea, Vomiting, Glycosuria, Hyperglycemia, Acute kidney injury	ORPHA:466677
Granulomatosis With Polyangiitis	Weight loss	OMIM:608710
Aspartylglucosaminuria	Umbilical hernia, Inguinal hernia, Aspartylglucosaminuria	ORPHA:93
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:98754
Atelis Syndrome 2	Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Gastroesophagea...	OMIM:620185
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Abnormality of the thyroid gland, Cachexia	ORPHA:1969
Nijmegen Breakage Syndrome	Pollakisuria, Chronic diarrhea, Cachexia	ORPHA:647
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:177901
Menkes Disease	Sparse hair, Bladder diverticulum, Hypopigmentation of hair, Woolly hair	ORPHA:565
Oculopharyngodistal Myopathy 1	Weight loss, Dysphagia	OMIM:164310
Prader-Willi Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:739
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Cachexia	ORPHA:220295
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hypopigmentation of hair, Renal h...	ORPHA:818
Immunodeficiency 82 With Systemic Inflammation	Gastritis, Diarrhea, Weight loss, Colitis, Vomiting, Crohn's disease, Intractable diarrhea	OMIM:619381
Dermatomyositis	Weight loss, Chondrocalcinosis, Cellulitis	ORPHA:221
Proteus Syndrome	Thymus hyperplasia, Abnormal dental enamel morphology, Cachexia, Neoplasm of the thymus, Abnormal...	ORPHA:744
Marfan Syndrome	Inguinal hernia, Slender build, Cachexia	ORPHA:558
Stickler Syndrome	Slender build, Gastroesophageal reflux, Abnormal dental enamel morphology, Cachexia	ORPHA:828
Kikuchi-Fujimoto Disease	Weight loss	ORPHA:50918
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Cachexia, Delayed puberty	ORPHA:2072
Choreoacanthocytosis	Weight loss, Dysphagia	ORPHA:2388
Norrie Disease	Diabetes mellitus, Failure to thrive, Cachexia, Delayed puberty	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 Slc6a19

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 Slc6a19.

No publications found that use IMPC mice or data for Slc6a19.

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
Slc6a19^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Slc6a19^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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