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 (5 diseases)
Human diseases predicted to be associated with Slc6a19 (751 diseases)

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

Disease	Matching phenotypes	Source
Iminoglycinuria	Hydroxyprolinuria, Prolinuria, Hyperglycinuria	OMIM:242600
Iminoglycinuria	Hydroxyprolinuria, Prolinuria, Hyperglycinuria	ORPHA:42062
Hyperglycinuria	Calcium oxalate nephrolithiasis, Hyperglycinuria	OMIM:138500
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
Graying Of Hair, Precocious	Premature graying of hair	OMIM:139100
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Loose Anagen Hair Syndrome	Loose anagen hair, Fair hair, Sparse hair	OMIM:600628
Homozygous 11P15-P14 Deletion Syndrome	Renal tubular dysfunction, Failure to thrive, Hyperinsulinemia, Diarrhea, Vomiting, Hypoglycemia,...	OMIM:606528
Albinism-Microcephaly-Digital Anomalies Syndrome	Albinism	OMIM:203340
Griscelli Syndrome, Type 1	Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Silver-gray hair, White...	OMIM:214450
Book Syndrome	Premature graying of hair	OMIM:112300
Albinism, Oculocutaneous, Type Iii	Partial albinism, Albinism, Red hair	OMIM:203290
Griscelli Syndrome Type 3	Partial albinism, Hypopigmentation of hair, Iris hypopigmentation	ORPHA:79478
Tietz Syndrome	Hypopigmentation of the skin, White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmen...	ORPHA:42665
Uncombable Hair Syndrome	Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair	ORPHA:1410
Transient Neonatal Diabetes Mellitus	Failure to thrive, Hypoinsulinemia, Small for gestational age, Maturity-onset diabetes of the you...	ORPHA:99886
Pseudopili Annulati	Abnormality of hair texture, Abnormality of the scalp hair	OMIM:613241
Dilution, Pigmentary	Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair	OMIM:126070
Ringed Hair Disease	Abnormal hair pattern, Fine hair	ORPHA:169
Waardenburg Syndrome, Type 2B	White forelock, Premature graying of hair, Heterochromia iridis	OMIM:600193
Pili Bifurcati	Abnormality of hair texture, Abnormal hair morphology	ORPHA:720
Hyper-Beta-Alaninemia	Failure to thrive, Increased urinary taurine	OMIM:237400
Short Stature Due To Primary Acid-Labile Subunit Deficiency	Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty	ORPHA:140941
Valinemia	Failure to thrive, Vomiting, Valinuria	OMIM:277100
Dibasic Amino Aciduria I	Argininuria, Hyperlysinuria, Ornithinuria, Dibasicaminoaciduria	OMIM:222690
Dicarboxylic Aminoaciduria	Fasting hypoglycemia, Nephrolithiasis, Aminoaciduria, Aspartic aciduria	OMIM:222730
Type 2 Diabetes Mellitus	Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus	OMIM:125853
Insulin Autoimmune Syndrome	Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia...	ORPHA:411593
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Failure to thrive, Aminoaciduria	ORPHA:2278
Cystinuria	Nephrolithiasis, Argininuria, Cystinuria, Recurrent urinary tract infections, Hyperlysinuria, Orn...	OMIM:220100
Pentosuria	Abnormality of urine homeostasis	OMIM:260800
Galactosemia Iii	Failure to thrive, Vomiting, Aminoaciduria, Galactosuria	OMIM:230350
Saccharopinuria	Histidinuria, Citrullinuria, Hyperlysinuria, Saccharopinuria	OMIM:268700
Hyperprolinemia, Type Ii	Hydroxyprolinuria, Prolinuria, Hyperglycinuria	OMIM:239510
Iminoglycinuria	Hydroxyprolinuria, Prolinuria, Hyperglycinuria	OMIM:242600
Iminoglycinuria	Hydroxyprolinuria, Prolinuria, Hyperglycinuria	ORPHA:42062
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal tubular atrophy, Aminoaciduria, Hyposthenuria, Glycosuria, Hypercalciuria, Low-molecular-we...	OMIM:308990
Cerebral Creatine Deficiency Syndrome 3	Organic aciduria, Failure to thrive	OMIM:612718
Hyperprolinemia Type 1	Prolinuria, Nephropathy, Proteinuria	ORPHA:419
Camptodactyly-Taurinuria Syndrome	Camptodactyly of toe, Camptodactyly of finger, Increased urinary taurine, Aminoaciduria	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)	Failure to thrive, Aminoaciduria, Cachexia, Diarrhea, Vomiting, Proximal tubulopathy, Weight loss	OMIM:612075
5-Oxoprolinase Deficiency	Prolinuria, Enterocolitis, Calcium oxalate nephrolithiasis, Diarrhea, Increased level of L-pyrogl...	OMIM:260005
3-Hydroxyisobutyric Aciduria	Failure to thrive, Aminoaciduria	OMIM:236795
Galactose Epimerase Deficiency	Weight loss, Aminoaciduria	ORPHA:79238
Lysine Malabsorption Syndrome	Renal tubular lysine transport defect, Hyperlysinuria	OMIM:247950
Albinism, Oculocutaneous, Type Ib	Hypopigmentation of the skin, Albinism, Hypopigmentation of hair	OMIM:606952
Tremor Of Intention, Ataxia, And Lipofuscinosis	Premature graying of hair	OMIM:190200
Growth Hormone Insensitivity Syndrome	Failure to thrive, Type II diabetes mellitus, Hypoplasia of penis, Truncal obesity, Hypoglycemia,...	ORPHA:181393
Mody	Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Hyperinsulinemic hypogly...	ORPHA:552
Multiple Symmetric Lipomatosis	Insulin resistance, Multiple lipomas, Abnormal adipose tissue morphology	ORPHA:2398
Camptodactyly 1	Camptodactyly of finger, Increased urinary taurine	OMIM:114200
Hyperinsulinism Due To Insr Deficiency	Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr...	ORPHA:263458
Acquired Partial Lipodystrophy	Lipoatrophy, Glomerulopathy, Proteinuria, Insulin resistance, Microscopic hematuria	ORPHA:79087
Ermine Phenotype	Spotty hyperpigmentation, Albinism, White eyelashes, White eyebrow, Vitiligo, White hair	OMIM:227010
Waardenburg Syndrome, Type 2F	Hypermelanotic macule, Blue irides, Hypopigmentation of the skin, Heterochromia iridis, Cafe-au-l...	OMIM:619947
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	White forelock, Macular hyperpigmented dermopathy	ORPHA:2779
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Partial albinism, Hypopigmentation of hair	ORPHA:90023
Woolly Hair	Abnormality of hair texture, Woolly hair, Brittle hair, Sparse body hair, Hypopigmentation of hai...	ORPHA:170
Albinism, Oculocutaneous, Type Iv	Albinism, Hypopigmentation of hair, Blue irides	OMIM:606574
Neonatal Severe Primary Hyperparathyroidism	Abnormal calcium-phosphate regulating hormone level, Abnormality of the thyroid gland, Aminoaciduria	ORPHA:417
Tiglic Acidemia	Aminoaciduria	OMIM:275190
Hydroxykynureninuria	Vomiting, Aminoaciduria	OMIM:236800
Cortisone Reductase Deficiency 2	Insulin resistance, Obesity, Premature pubarche	OMIM:614662
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome	Aminoaciduria	ORPHA:79156
Threoninemia	Hyperthreoninuria	OMIM:273770
Ichthyosis, Split Hairs, And Amino Aciduria	Aminoaciduria	OMIM:242550
Alaninuria With Microcephaly, Dwarfism, Enamel Hypoplasia, And Diabetes Mellitus	Enamel hypoplasia, Alaninuria, Diabetes mellitus	OMIM:202900
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Truncal obesity, Large for ...	ORPHA:293964
Carnosinemia	Carnosinuria	OMIM:212200
Diaminopentanuria	Hyperlysinuria, Cystinuria	OMIM:222350
Hydroxylysinuria	Hyperlysinuria	OMIM:236900
Carnosinase Deficiency	Carnosinuria	ORPHA:1361
Hidrotic Ectodermal Dysplasia	Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Absent eyebrow, Sparse eyelashes, Spars...	ORPHA:189
Indolylacroyl Glycinuria With Mental Retardation	Hyperglycinuria	OMIM:243050
Cystathioninuria	Cystathioninuria	OMIM:219500
Beta-Aminoisobutyric Aciduria	Beta-aminoisobutyric aciduria	OMIM:210100
Phenylketonuria	Aminoaciduria	ORPHA:716
Hypotrichosis 8	Sparse scalp hair, Woolly hair, Fair hair, Sparse hair, Sparse axillary hair, Sparse eyelashes, S...	OMIM:278150
2P21 Microdeletion Syndrome	Nephrolithiasis, Failure to thrive, Cystinuria, Hypoglycemia, Hypogonadism	ORPHA:163693
Hyperprolinemia, Type I	Hydroxyprolinuria, Prolinuria, Hyperglycinuria	OMIM:239500
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria	Alpha-aminoadipic aciduria	OMIM:204750
Waardenburg Syndrome, Type 4B	Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray...	OMIM:613265
Hyperglycinuria	Calcium oxalate nephrolithiasis, Hyperglycinuria	OMIM:138500
Dent Disease 2	Chronic kidney disease, Aminoaciduria, Hypercalciuria, Low-molecular-weight proteinuria, Umbilica...	OMIM:300555
Galactosemia I	Increased level of galactitol in urine, Failure to thrive, Aminoaciduria, Hypergonadotropic hypog...	OMIM:230400
White Forelock With Malformations	Poliosis, White forelock	OMIM:277740
Cystinosis	Renal tubular dysfunction, Failure to thrive, Nephrogenic diabetes insipidus, Aminoaciduria, Neph...	ORPHA:213
Uncombable Hair Syndrome 3	Uncombable hair, Curly hair, Pili canaliculi	OMIM:617252
Homocarnosinosis	Carnosinuria	OMIM:236130
Methylmalonic Aciduria And Homocystinuria, Cblx Type	Failure to thrive, Methylmalonic aciduria, Homocystinuria	OMIM:309541
Diabetes Mellitus, Ketosis-Prone	Insulin resistance, Beta-cell dysfunction, Diabetes mellitus	OMIM:612227
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Failure to thrive, Nephrogenic diabetes insipidus, Renal tubular acidosis, Aminoaciduria, Glycosu...	OMIM:613404
Hyperinsulinemic Hypoglycemia, Familial, 1	Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypo...	OMIM:256450
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Failure to thrive, Aminoaciduria, Flexion contracture, Camptodactyly, Renal hypoplasia, 3-Methylg...	OMIM:604273
Griscelli Syndrome, Type 2	Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accum...	OMIM:607624
Combined Oxidative Phosphorylation Deficiency 52	Adrenal insufficiency, Aminoaciduria, Hypoglycemia, Renal insufficiency, Lacticaciduria	OMIM:619386
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Aminoaciduria, Glycosuria, Hypoglycemia, Large for gestational age, Proteinuria, Diabetes mellitu...	OMIM:616026
Fanconi Renotubular Syndrome 2	Glycosuria, Hypercalciuria, Generalized aminoaciduria, Renal insufficiency, Proximal tubulopathy	OMIM:613388
Woolly Hair, Autosomal Recessive 3	Sparse scalp hair, Sparse hair, Sparse eyelashes, Trichorrhexis nodosa, Fine hair, Curly hair	OMIM:616760
Hypotonia-Cystinuria Syndrome	Nephrolithiasis, Failure to thrive, Cystinuria	ORPHA:163690
Mercaptolactate-Cysteine Disulfiduria	Aminoaciduria	OMIM:249650
Hartnup Disorder	Neutral hyperaminoaciduria	OMIM:234500
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
Fanconi Renotubular Syndrome 1	Renal tubular dysfunction, Aminoaciduria, Glycosuria, Proteinuria, Renal insufficiency, Lacticaci...	OMIM:134600
Ornithine Transcarbamylase Deficiency	Hypoglycemia, Aminoaciduria	ORPHA:664
Fanconi Renotubular Syndrome 3	Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Elevated circulating creatinine conc...	OMIM:615605
Laryngeal Neuroendocrine Tumor	Increased serum serotonin, Adrenocorticotropic hormone excess, Inappropriate antidiuretic hormone...	ORPHA:100083
Familial Partial Lipodystrophy, Köbberling Type	Insulin resistance, Hyperinsulinemia, Lipoatrophy, Diabetes mellitus	ORPHA:79084
Gracile Syndrome	Aminoaciduria	OMIM:603358
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Aminoaciduria	OMIM:204730
Waardenburg Syndrome, Type 2A	Numerous pigmented freckles, Partial albinism, Albinism, White eyelashes, White eyebrow, Synophry...	OMIM:193510
Hyperinsulinemic Hypoglycemia, Familial, 2	Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Large for gestati...	OMIM:601820
Oculocutaneous Albinism, Type Viii	Hypopigmentation of the skin, Hypopigmentation of hair, Iris transillumination defect	OMIM:619165
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Failure to thrive, Methylmalonic aciduria, Aminoaciduria	OMIM:612073
Morbid Obesity And Spermatogenic Failure	Insulin resistance, Obesity, Type II diabetes mellitus	OMIM:615703
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Abnormal circulating insulin concentration, Decreased circulating free T3, Increased circulating ...	ORPHA:171706
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Cachexia, Methylmalonic aciduria, Aminoaciduria	ORPHA:1933
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypospadias, Generalized hyperpigmentation, Hypopigmentation of hair	ORPHA:1355
Glucoglycinuria	Hyperglycinuria, Glycosuria	OMIM:138070
Glutamate Formiminotransferase Deficiency	Aminoaciduria	OMIM:229100
Fanconi-Bickel Syndrome	Postprandial hyperglycemia, Failure to thrive, Renal tubular acidosis, Glycosuria, Nephropathy, H...	ORPHA:2088
Lipodystrophy, Familial Partial, Type 3	Reduced subcutaneous adipose tissue, Hyperinsulinemia, Type II diabetes mellitus, Loss of gluteal...	OMIM:604367
Oculocerebral Syndrome With Hypopigmentation	Silver-gray hair, Hypopigmentation of the skin	OMIM:257800
Methionine Malabsorption Syndrome	Diarrhea, Aminoaciduria	OMIM:250900
Waardenburg Syndrome Type 2	Abnormality of the kidney, Hypopigmentation of hair, Heterochromia iridis, White forelock, Premat...	ORPHA:895
Fanconi-Bickel Syndrome	Reduced subcutaneous adipose tissue, Renal tubular dysfunction, Failure to thrive, Glycosuria, Ge...	OMIM:227810
Fanconi Renotubular Syndrome 5	Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis, Proteinuria, Stage 5 chronic kidney disease	OMIM:618913
Pulmonary Blastoma	Weight loss	ORPHA:64741
Body Mass Index Quantitative Trait Locus 19	Insulin resistance, Obesity, Hyperinsulinemia, Increased serum leptin	OMIM:617885
Cystathioninuria	Nephrolithiasis, Cystathioninuria	ORPHA:212
Insulin-Resistance Syndrome Type B	Hyperinsulinemia, Glycosuria, Abnormality of circulating leptin level, Proteinuria, Increased bod...	ORPHA:2298
Obesity Due To Prohormone Convertase I Deficiency	Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr...	ORPHA:71526
Obesity Due To Melanocortin 4 Receptor Deficiency	Hyperinsulinemia, Type II diabetes mellitus, Childhood-onset truncal obesity, Increased adipose t...	ORPHA:71529
Dent Disease 1	Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Aminoaciduria, Glycosuria, Low-...	OMIM:300009
Carcinoma Of Esophagus	Dysphagia, Obesity, Weight loss, Gastroesophageal reflux	ORPHA:70482
Lipodystrophy, Familial Partial, Type 4	Insulin resistance, Lipodystrophy, Lipoatrophy, Insulin-resistant diabetes mellitus	OMIM:613877
Hypertryptophanemia	Camptodactyly of finger, Tryptophanuria	OMIM:600627
Piebald Trait With Neurologic Defects	White forelock, Absent pigmentation of the ventral chest	OMIM:172850
Tyrosinemia Type 1	Generalized aminoaciduria	ORPHA:882
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Renal tubular dysfunction, Failure to thrive, Aminoaciduria, Glycosuria, Vomiting, Renal Fanconi ...	ORPHA:436271
Oculocutaneous Albinism Type 3	Blue irides, Hypopigmentation of the skin, Iris hypopigmentation, White eyebrow, White eyelashes,...	ORPHA:79433
Diabetes Mellitus, Permanent Neonatal, 3	Ketonuria, Small for gestational age, Glycosuria, Type I diabetes mellitus, Hyperglycemia	OMIM:618857
Hyperinsulinemic Hypoglycemia, Familial, 7	Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,...	OMIM:610021
Urocanase Deficiency	Urocanic aciduria, Fair hair, Blue irides	OMIM:276880
Albinism, Oculocutaneous, Type Ii	Blue irides, Hypopigmentation of the skin, Hypopigmentation of hair, Freckles in sun-exposed area...	OMIM:203200
3-Methylcrotonyl-Coa Carboxylase Deficiency	Hypoglycemia, Organic aciduria, Failure to thrive in infancy	ORPHA:6
Combined Malonic And Methylmalonic Aciduria	Failure to thrive, Methylmalonic aciduria, Diarrhea, Vomiting	OMIM:614265
Attrv30M Amyloidosis	Constipation, Abnormal renal physiology, Diarrhea, Nephropathy, Weight loss	ORPHA:85447
Tuberculosis	Weight loss	ORPHA:3389
Idiopathic Achalasia	Dysphagia, Weight loss, Gastroesophageal reflux	ORPHA:930
Hyperinsulinemic Hypoglycemia, Familial, 3	Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus	OMIM:602485
Carbamoyl-Phosphate Synthetase 1 Deficiency	Aminoaciduria	ORPHA:147
Hyperinsulinemic Hypoglycemia, Familial, 5	Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures	OMIM:609968
Woolly Hair, Autosomal Dominant	Woolly hair, Coarse hair, Dry hair, Slow-growing hair, Abnormal hair morphology	OMIM:194300
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Failure to thrive, Nephrogenic diabetes insipidus, Renal tubular acidosis, Renal tubular atrophy,...	OMIM:208085
Hyperinsulinemic Hypoglycemia, Familial, 6	Failure to thrive, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypo...	OMIM:606762
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Generalized lipodystrophy, Lipodystrophy, Diabetes mellitus,...	OMIM:612526
Lipodystrophy, Familial Partial, Type 6	Insulin resistance, Lipodystrophy, Abdominal obesity, Diabetes mellitus	OMIM:615980
Piebald Trait-Neurologic Defects Syndrome	Abnormal eyebrow morphology, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyel...	ORPHA:2885
Dent Disease	Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Aminoaci...	ORPHA:1652
Elejalde Neuroectodermal Melanolysosomal Syndrome	Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accum...	OMIM:256710
Uncombable Hair Syndrome 1	Uncombable hair, Dry hair, Pili canaliculi	OMIM:191480
Hyperlysinuria With Hyperammonemia	Hyperlysinuria, Dibasicaminoaciduria	OMIM:238750
Histidinuria-Renal Tubular Defect Syndrome	Hypoglycemia, Histidinuria, Impaired histidine renal tubular absorption	ORPHA:2158
Yemenite Deaf-Blind Hypopigmentation Syndrome	White forelock, Patchy hypo- and hyperpigmentation, Numerous pigmented freckles	OMIM:601706
Encephalopathy Due To Sulfite Oxidase Deficiency	Aminoaciduria	ORPHA:833
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Failure to thrive, Homocystinuria	OMIM:250940
Primary Fanconi Renotubular Syndrome	Renal phosphate wasting, Chronic kidney disease, Bicarbonate-wasting renal tubular acidosis, Incr...	ORPHA:3337
Hyperparathyroidism, Neonatal Severe	Failure to thrive, Constipation, Aminoaciduria, Elevated circulating parathyroid hormone level, P...	OMIM:239200
Glutamate-Cysteine Ligase Deficiency	Aminoaciduria	ORPHA:33574
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of the skin, Albinism, Hypopigmentation of hair	ORPHA:2786
Muscular Dystrophy, Cardiac Type	Carnosinuria	OMIM:309930
Hyperinsulinism Due To Hnf1A Deficiency	Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Small for gestational age, Maturity-onset diabet...	ORPHA:324575
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate	Increased urine alpha-ketoglutarate concentration, Increased urine succinate level, Elevated urin...	OMIM:618384
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Aminoaciduria	OMIM:250620
Hyperinsulinism-Hyperammonemia Syndrome	Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Increased urine a...	ORPHA:35878
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Failure to thrive, Homocystinuria	OMIM:236270
Thiamine-Responsive Megaloblastic Anemia Syndrome	Gastroesophageal reflux, Aminoaciduria, Diabetes mellitus	OMIM:249270
Juvenile Nephropathic Cystinosis	Renal phosphate wasting, Failure to thrive, Chronic kidney disease, Aminoaciduria, Glycosuria, Ab...	ORPHA:411634
Mu-Heavy Chain Disease	Weight loss, Nephropathy, Bence Jones Proteinuria	ORPHA:100024
Proximal Renal Tubular Acidosis	Nephrolithiasis, Failure to thrive, Aminoaciduria, Hyperuricosuria, Diarrhea, Glycosuria, Vomitin...	ORPHA:47159
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Failure to thrive, Ketonuria, Aminoaciduria, Large for gestational age, Umbilical hernia	OMIM:614520
Mantle Cell Lymphoma	Weight loss	ORPHA:52416
Lipe-Related Familial Partial Lipodystrophy	Increased adipose tissue around the neck, Loss of gluteal subcutaneous adipose tissue, Decreased ...	ORPHA:435660
Hypotonia-Cystinuria Syndrome	Nephrolithiasis, Failure to thrive, Cystinuria, Decreased response to growth hormone stimulation ...	OMIM:606407
Hsd10 Disease	Dysphagia, Abnormal urinary acylglycine profile, Elevated urinary 3-hydroxybutyric acid	ORPHA:391417
Glutathione Synthetase Deficiency	Increased level of L-pyroglutamic acid in urine	OMIM:266130
Solitary Fibrous Tumor/Hemangiopericytoma	Hypoinsulinemia, Constipation, Hypoglycemia, Urinary retention, Recurrent hypoglycemia, Weight loss	ORPHA:2126
Akt2-Related Familial Partial Lipodystrophy	Decreased serum leptin, Lipodystrophy, Increased intraabdominal fat, Insulin-resistant diabetes m...	ORPHA:79085
Hyperinsulinism Due To Glucokinase Deficiency	Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyper...	ORPHA:79299
Hypercalcemia, Infantile, 1	Nephrolithiasis, Failure to thrive, Polyuria, Vomiting, Hypercalciuria, Weight loss, Nephrocalcin...	OMIM:143880
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Postprandial hyperglycemia, Failure to thrive, Ketonuria, Ketotic hypoglycemia, Glycosuria	ORPHA:2089
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Renal tubular dysfunction, Failure to thrive, Aminoaciduria, Glycosuria, Renal Fanconi syndrome, ...	OMIM:220110
Infantile Nephropathic Cystinosis	Renal tubular dysfunction, Failure to thrive, Constipation, Aminoaciduria, Glycosuria, Vomiting, ...	ORPHA:411629
Saccharopinuria	Citrullinuria, Hyperlysinuria, Cystinuria	ORPHA:3124
Albinism-Deafness Syndrome	Partial albinism, Albinism, Patchy hypo- and hyperpigmentation, Piebaldism	OMIM:300700
Argininemia	Diaminoaciduria	ORPHA:90
D-Glyceric Aciduria	Failure to thrive, Gastroesophageal reflux, Aminoaciduria, Micropenis, Hypoglycemia	OMIM:220120
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Aminoaciduria	OMIM:609560
Combined Oxidative Phosphorylation Deficiency 14	Aminoaciduria	OMIM:614946
Multiple Acyl-Coa Dehydrogenase Deficiency	Renal cortical cysts, Glycosuria, Vomiting, Hypoglycemia, Generalized aminoaciduria, Polycystic k...	OMIM:231680
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Small for gestational age, Diab...	OMIM:262190
Distal Renal Tubular Acidosis	Nephrolithiasis, Failure to thrive, Constipation, Aminoaciduria, Decreased glomerular filtration ...	ORPHA:18
Intestinal Dysmotility Syndrome	Projectile vomiting, Failure to thrive, Weight loss, Diarrhea	OMIM:620045
Plin1-Related Familial Partial Lipodystrophy	Reduced subcutaneous adipose tissue, Hyperinsulinemia, Lipoatrophy, Loss of gluteal subcutaneous ...	ORPHA:280356
Sulfite Oxidase Deficiency, Isolated	Increased urinary sulfite, Episodic vomiting, Sulfocysteinuria, Decreased urinary sulfate	OMIM:272300
Glycine Encephalopathy	Hyperglycinuria	OMIM:605899
Waardenburg Syndrome, Type 4A	Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray...	OMIM:277580
Combined Oxidative Phosphorylation Deficiency 36	Hypoglycemia, Failure to thrive, Aciduria	OMIM:617950
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Insulin resistance, Elevated circulating growth hormone concentration, Insulin-resistant diabetes...	ORPHA:90301
Hawkinsinuria	Hypothyroidism, Failure to thrive, 4-Hydroxyphenylpyruvic aciduria, 4-hydroxyphenylacetic aciduria	ORPHA:2118
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Gen...	ORPHA:363400
Mandibuloacral Dysplasia	Increased adipose tissue around the neck, Glucose intolerance, Hyperinsulinemia, Lipoatrophy, Inc...	ORPHA:2457
Diencephalic Syndrome	Cachexia, Abnormality of the hypothalamus-pituitary axis, Decreased body weight, Long penis	ORPHA:1672
Piebald Trait	Piebaldism, Absent pigmentation of the ventral chest, Partial albinism, Heterochromia iridis, Whi...	OMIM:172800
Adrenocortical Carcinoma	Paradoxical increased cortisol secretion on dexamethasone suppression test, Adrenocorticotropic h...	ORPHA:1501
Congenital Generalized Lipodystrophy	Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Lipodystrophy, Adipose tissue...	ORPHA:528
Cerebrooculofacioskeletal Syndrome 1	Failure to thrive, Joint contracture of the hand, Flexion contracture, Small for gestational age,...	OMIM:214150
Combined Malonic And Methylmalonic Acidemia	Failure to thrive, Methylmalonic aciduria, Vomiting, Hypoglycemia, Dicarboxylic aciduria, Intermi...	ORPHA:289504
Hyperinsulinemic Hypoglycemia, Familial, 4	Hyperinsulinemic hypoglycemia, Hypoglycemic seizures	OMIM:609975
Central Diabetes Insipidus	Failure to thrive, Diarrhea, Nocturia, Weight loss, Diabetes insipidus	ORPHA:178029
Methylmalonyl-Coa Epimerase Deficiency	Gastroesophageal reflux, Failure to thrive, Ketonuria, Methylmalonic aciduria	OMIM:251120
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hyp...	ORPHA:276580
Neuroectodermal Melanolysosomal Disease	Generalized hyperpigmentation, Premature graying of hair, Hypopigmentation of hair, Hypopigmentat...	ORPHA:33445
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,...	ORPHA:276608
Waardenburg-Shah Syndrome	Abnormal eyebrow morphology, Abnormality of retinal pigmentation, Hypopigmentation of hair, White...	ORPHA:897
Hyperinsulinism Due To Hnf4A Deficiency	Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Diarrhea, Glycosuria, ...	ORPHA:263455
Hereditary Central Diabetes Insipidus	Weight loss, Diarrhea, Vomiting, Diabetes insipidus	ORPHA:30925
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Failure to thrive, Ketonuria, Elevated urinary 3-methylcrotonylglycine level, Vomiting, Hypoglyce...	OMIM:210200
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Failure to thrive, Ketonuria, Hyperglycinuria, Vomiting, Hypoglycemia, Organic aciduria	OMIM:210210
Cystinosis, Nephropathic	Exocrine pancreatic insufficiency, Glycosuria, Hematuria, Proteinuria, Weight loss, Failure to th...	OMIM:219800
Neuroblastoma, Susceptibility To, 1	Failure to thrive, Abnormality of urine catecholamine level, Elevated urinary vanillylmandelic ac...	OMIM:256700
Familial Glucocorticoid Deficiency	Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Precocious pub...	ORPHA:361
Isolated Congenital Hypoglossia/Aglossia	Weight loss	ORPHA:141152
Glutaric Aciduria Iii	Failure to thrive, Hyperthyroidism, Diarrhea, Vomiting, Glutaric aciduria, Goiter	OMIM:231690
Glucose-Galactose Malabsorption	Nephrolithiasis, Failure to thrive, Diarrhea, Hematuria, Vomiting, Renal insufficiency, Weight loss	ORPHA:35710
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hypoglycemia, Medium chain dicarboxylic aciduria, Hyperglycinuria, Vomiting	OMIM:201450
Sarcosinemia	Hypersarcosinuria	ORPHA:3129
Familial Expansile Osteolysis	Hydroxyprolinuria	OMIM:174810
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoglycemia, Generalized aminoaciduria, Failure to thrive, Vomiting	OMIM:251880
Silver-Russell Syndrome	Precocious puberty, Constipation, Gastroesophageal reflux, Hypospadias, Abnormality of the urinar...	ORPHA:813
Inflammatory Bowel Disease (Crohn Disease) 1	Crohn's disease, Diarrhea, Inflammation of the large intestine, Intestinal obstruction, Recurrent...	OMIM:266600
Hyperprolinemia Type 2	Prolinuria, Hydroxyprolinuria, Increased urine alpha-ketoglutarate concentration, Diarrhea, Renal...	ORPHA:79101
Succinic Semialdehyde Dehydrogenase Deficiency	Elevated urinary 4-hydroxybutyric acid, Increased level of gamma-aminobutyric acid in urine	OMIM:271980
Familial Partial Lipodystrophy, Dunnigan Type	Lipoatrophy, Cellulitis, Glomerulopathy, Lipodystrophy, Diabetes mellitus, Insulin resistance, Lo...	ORPHA:2348
Sialidosis Type 1	Urinary excretion of sialylated oligosaccharides, Hernia, Aminoaciduria, Increased urinary O-link...	ORPHA:812
Oculocutaneous Albinism Type 4	Abnormality of retinal pigmentation, Ocular albinism, Hypopigmentation of the skin, Hypopigmentat...	ORPHA:79435
Fructose Intolerance, Hereditary	Failure to thrive, Transient aminoaciduria, Hyperuricosuria, Proximal renal tubular acidosis, Gly...	OMIM:229600
Dermotrichic Syndrome	Aminoaciduria	ORPHA:99688
Piebaldism	Heterochromia iridis, Hypopigmentation of hair, White eyebrow, White eyelashes, Synophrys, Piebal...	ORPHA:2884
Inflammatory Pseudotumor Of The Liver	Weight loss, Nausea, Vomiting, Diabetes mellitus	ORPHA:90003
Insulinomatosis And Diabetes Mellitus	Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,...	OMIM:147630
Placental Insufficiency	Insulin resistance, Small for gestational age	ORPHA:439167
Isobutyryl-Coa Dehydrogenase Deficiency	Ketotic hypoglycemia, Dicarboxylic aciduria, Vomiting	ORPHA:79159
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Failure to thrive, Small for gestational age, Truncal obesity, Hypoglycemia, Hypogonadism, Insuli...	ORPHA:73272
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Hypopigmentation of hair, Alopecia	ORPHA:1067
Propionic Acidemia	Failure to thrive, Hyperglycinuria, Constipation, Vomiting, Hypoglycemia, Increased level of hipp...	OMIM:606054
Vogt-Koyanagi-Harada Disease	Sparse scalp hair, Abnormal eyebrow morphology, Poliosis, Abnormal eyelash morphology, Vitiligo, ...	ORPHA:3437
Acquired Central Diabetes Insipidus	Weight loss, Pollakisuria, Diabetes insipidus	ORPHA:95626
Undifferentiated Pleomorphic Sarcoma	Weight loss	ORPHA:2023
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hyp...	ORPHA:276575
Pseudomyxoma Peritonei	Constipation, Inflammation of the large intestine, Intestinal obstruction, Hernia, Weight loss	ORPHA:26790
Polyendocrine-Polyneuropathy Syndrome	Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Hypogonad...	ORPHA:453533
Propionic Acidemia	Hypoglycemia, Constipation, Organic aciduria	ORPHA:35
Hereditary Amyloidosis With Primary Renal Involvement	Nephrotic syndrome, Gastroesophageal reflux, Renal tubular atrophy, Decreased glomerular filtrati...	ORPHA:85450
Albinism-Deafness Syndrome	Irregular hyperpigmentation, Partial albinism, Heterochromia iridis, Piebaldism, Hypopigmented sk...	ORPHA:998
Retinitis Pigmentosa	Hyperinsulinemia, Type II diabetes mellitus, Hypoplasia of penis, Hypogonadism, Atypical scarring...	ORPHA:791
Lipodystrophy, Familial Partial, Type 1	Increased adipose tissue around the neck, Loss of gluteal subcutaneous adipose tissue, Increased ...	OMIM:608600
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Failure to thrive, Gastroesophageal reflux, Inguinal hernia, Methylmalonic aciduria, Homocystinuria	OMIM:614857
Short Syndrome	Inguinal hernia, Lipodystrophy, Diabetes mellitus, Insulin resistance, Weight loss, Abnormal dent...	ORPHA:3163
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Failure to thrive, Aminoaciduria, Small for gestational age, Hypoglycemia, Neonatal hypoglycemia	OMIM:619055
Fumarase Deficiency	Reduced subcutaneous adipose tissue, Failure to thrive, Aminoaciduria	OMIM:606812
Acquired Generalized Lipodystrophy	Hyperinsulinemia, Generalized lipodystrophy, Insulin-resistant diabetes mellitus, Proteinuria, In...	ORPHA:79086
Monocarboxylate Transporter 1 Deficiency	Ketotic hypoglycemia, Ketonuria	OMIM:616095
Histidinuria Due To A Renal Tubular Defect	Histidinuria, Impaired histidine renal tubular absorption	OMIM:235830
Non-Functioning Paraganglioma	Paraganglioma of head and neck, Elevated urinary dopamine, Paraganglioma, Hematuria, Weight loss,...	ORPHA:94080
Dopamine Beta-Hydroxylase Deficiency	Hyperinsulinemia, Elevated urinary dopamine, Diarrhea, Nocturia, Vomiting, Hypoglycemia, Elevated...	ORPHA:230
Peroxisome Biogenesis Disorder 2A (Zellweger)	Failure to thrive, Aminoaciduria, Joint contracture of the hand, Hypoplasia of the thymus, Campto...	OMIM:214110
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Secondary hyperparathyroidism, Failure to thrive, Elevated circulating parathyroid hormone level,...	OMIM:264700
Congenital Disorder Of Glycosylation, Type Iif	Proteinuria, Aminoaciduria	OMIM:603585
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Obesity, Hyperinsulinemia	ORPHA:329249
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Body Mass Index Quantitative Trait Locus 20	Obesity, Hyperinsulinemia	OMIM:618406
Zollinger-Ellison Syndrome	Pituitary growth hormone cell adenoma, Elevated circulating parathyroid hormone level, Adrenocort...	ORPHA:913
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypoglycemia, Failure to thrive, Tubulointerstitial nephritis, Aminoaciduria	OMIM:124000
Thymic Neuroendocrine Tumor	Pituitary null cell adenoma, Pituitary adenoma, Increased circulating cortisol level, Neuroendocr...	ORPHA:97289
Inflammatory Bowel Disease 11	Weight loss, Diarrhea, Inflammation of the large intestine, Hematochezia	OMIM:191390
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Reduced subcutaneous adipose tissue, Lipoatrophy, Flexion contracture, Cachexia, Lipodystrophy, T...	ORPHA:1979
Isolated Permanent Neonatal Diabetes Mellitus	Renal tubular dysfunction, Failure to thrive, Ketonuria, Lower-limb joint contracture, Abnormalit...	ORPHA:99885
Galactokinase Deficiency	Failure to thrive, Increased level of galactitol in urine, Hyperinsulinemia, Small for gestationa...	ORPHA:79237
Wild Type Attr Amyloidosis	Nephrotic syndrome, Nephropathy, Intermittent diarrhea, Renal insufficiency, Proteinuria, Chronic...	ORPHA:330001
Glutaric Acidemia Type 3	Failure to thrive, Ketonuria, Glutaric aciduria	ORPHA:35706
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Aminoaciduria, Hypogonadism	OMIM:273400
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Failure to thrive, Methylmalonic aciduria, Homocystinuria, Nephropathy, Hematuria, Renal insuffic...	OMIM:277400
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Failure to thrive, Methylmalonic aciduria, Homocystinuria, Stomatitis, Cystathioninuria	OMIM:277380
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type	Sparse scalp hair, Fair hair, Absent eyebrow, Sparse axillary hair, Sparse eyelashes, Short eyela...	OMIM:601375
Dimethylglycine Dehydrogenase Deficiency	Elevated urinary N,N-dimethylglycine level	OMIM:605850
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Dysphagia, Gastrointestinal hemorrhage, Weight loss, Gastroesophageal reflux	ORPHA:2198
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo...	OMIM:619326
Leber Congenital Amaurosis 1	Hyperthreoninuria	OMIM:204000
Bruck Syndrome 2	Hydroxyprolinuria, Flexion contracture, Inguinal hernia, Elbow flexion contracture, Knee flexion ...	OMIM:609220
Leigh Syndrome	Renal tubular dysfunction, Multiple joint contractures, Failure to thrive, Nephrotic syndrome, Re...	ORPHA:506
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Slender build, Cachexia, Weight loss, Constipation	OMIM:613662
Hypoglycemia, Leucine-Induced	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Griscelli Syndrome Type 1	Partial albinism, Premature graying of hair, Iris hypopigmentation, White hair	ORPHA:79476
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Cachexia, Diarrhea, Vomiting, Hypoglycemia, Distal arthrogryposis, Dicarboxylic aciduria, Elevate...	ORPHA:42
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Flexion contracture, Lipodystrophy, Hypogonadism, Insulin resistance, Diabetes mellitus	OMIM:615381
Hirschsprung Disease	Constipation, Diarrhea, Intestinal obstruction, Weight loss, Failure to thrive in infancy, Neopla...	ORPHA:388
Obesity Due To Sim1 Deficiency	Glucose intolerance, Hyperinsulinemia, Obesity	ORPHA:369873
Chronic Hiccup	Weight loss	ORPHA:396
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Gastroesophageal reflux, Aminoaciduria, Renal hypoplasia, Hydronephrosis, Dysphagia	OMIM:617913
Gitelman Syndrome	Graves disease, Constipation, Diarrhea, Type I diabetes mellitus, Proteinuria, Primary hyperaldos...	ORPHA:358
Pparg-Related Familial Partial Lipodystrophy	Lipoatrophy, Insulin resistance, Maternal diabetes, Insulin-resistant diabetes mellitus, Diabetes...	ORPHA:79083
Waardenburg Syndrome Type 1	Thick eyebrow, Hypopigmentation of hair, White eyebrow, White eyelashes, Synophrys, Heterochromia...	ORPHA:894
Isaacs Syndrome	Weight loss	ORPHA:84142
Oculocutaneous Albinism	Ocular albinism, Generalized hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of ...	ORPHA:55
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Failure to thrive, Precocious puberty, Constipation, Decreased response to growth hormone stimula...	ORPHA:96182
Hyperproinsulinemia	Hyperinsulinemia, Hyperglycemia	OMIM:616214
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Werner Syndrome	Slender build, Type II diabetes mellitus, Lipoatrophy, Thyroid carcinoma, Renal neoplasm, Chondro...	ORPHA:902
Hereditary Orotic Aciduria	Abnormality of the ureter, Oroticaciduria, Aminoaciduria, Orotic acid crystalluria	ORPHA:30
Rabson-Mendenhall Syndrome	Reduced subcutaneous adipose tissue, Postprandial hyperglycemia, Increased serum testosterone lev...	ORPHA:769
Nephroblastoma	Weight loss, Nephroblastoma, Hematuria	ORPHA:654
Lipodystrophy, Congenital Generalized, Type 4	Failure to thrive, Ileus, Hyperinsulinemia, Constipation, Flexion contracture, Lipodystrophy, Dys...	OMIM:613327
Aredyld Syndrome	Type II diabetes mellitus, Lipoatrophy, Cachexia, Abnormality of the ureter, Type I diabetes mell...	ORPHA:1133
Gyrate Atrophy Of Choroid And Retina	Aminoaciduria	ORPHA:414
Leprechaunism	Reduced subcutaneous adipose tissue, Postprandial hyperglycemia, Failure to thrive, Hyperinsuline...	ORPHA:508
Obesity Due To Congenital Leptin Deficiency	Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad...	ORPHA:66628
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair	ORPHA:177910
Argininosuccinic Aciduria	Failure to thrive, Vomiting, Oroticaciduria, Aminoaciduria	OMIM:207900
Hermansky-Pudlak Syndrome 3	Hypopigmentation of the skin, Albinism, Hypopigmentation of hair	OMIM:614072
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Lipoatrophy, Decre...	ORPHA:280365
Reticular Dysgenesis	Diarrhea, Failure to thrive, Aplasia/Hypoplasia of the thymus, Weight loss	ORPHA:33355
Argininosuccinic Aciduria	Oroticaciduria, Aminoaciduria	ORPHA:23
Short Stature, Microcephaly, And Endocrine Dysfunction	Inguinal hernia, Micropenis, Unilateral renal agenesis, Truncal obesity, Hypothyroidism, Renal hy...	OMIM:616541
Liposarcoma	Abnormality of the kidney, Weight loss	ORPHA:69078
Spinocerebellar Ataxia 48	Dysphagia, Cachexia, Urinary incontinence	OMIM:618093
Moynahan Syndrome	Cachexia, Hypogonadism	ORPHA:2574
Rhabdoid Tumor	Weight loss, Hematuria, Renal neoplasm	ORPHA:69077
Lysinuric Protein Intolerance	Failure to thrive, Oroticaciduria, Aminoaciduria, Diarrhea, Vomiting, Truncal obesity, Nausea, St...	OMIM:222700
Obesity Due To Leptin Receptor Gene Deficiency	Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad...	ORPHA:179494
Lipodystrophy, Familial Partial, Type 7	Reduced subcutaneous adipose tissue, Glucose intolerance, Failure to thrive, Small for gestationa...	OMIM:606721
Mulibrey Nanism	Cachexia	ORPHA:2576
Erythrokeratodermia Variabilis	Weight loss, Diabetes mellitus	ORPHA:317
Medullary Thyroid Carcinoma	Medullary thyroid carcinoma, Primary hyperparathyroidism, Pheochromocytoma, Diarrhea, Dysphagia, ...	ORPHA:1332
Hyperinsulinism Due To Ucp2 Deficiency	Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hypoketotic hypoglyce...	ORPHA:276556
Hypocalcemic Vitamin D-Dependent Rickets	Secondary hyperparathyroidism, Failure to thrive, Elevated circulating parathyroid hormone level,...	ORPHA:289157
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Homocystinuria, Methioninuria, Failure to thrive, Inguinal hernia	OMIM:236200
Insulinoma	Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl...	ORPHA:97279
Isovaleric Acidemia	Hyperglycinuria, Vomiting	OMIM:243500
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Hyperinsulinemic hypoglycemia, Delayed puberty, Delayed thelarche, Dorsocervical fat pad, Diabete...	OMIM:616033
Sporadic Pheochromocytoma/Secreting Paraganglioma	Paraganglioma of head and neck, Elevated urinary dopamine, Paraganglioma, Hematuria, Extraadrenal...	ORPHA:276621
Molybdenum Cofactor Deficiency, Complementation Group A	Increased urinary taurine, Absent urinary urothione, Xanthinuria, Decreased urinary sulfate, Incr...	OMIM:252150
Multicentric Reticulohistiocytosis	Cachexia	ORPHA:139436
Paget Disease Of Bone 5, Juvenile-Onset	Hydroxyprolinuria, Failure to thrive, Increased urine deoxypyridinoline level, Hypercalciuria, Ma...	OMIM:239000
Congenital Disorder Of Glycosylation, Type Ib	Failure to thrive, Hyperinsulinemic hypoglycemia, Steatorrhea, Diarrhea, Vomiting, Renal cyst, Pr...	OMIM:602579
Netherton Syndrome	Ectopic kidney, Hydronephrosis, Aminoaciduria	ORPHA:634
Bullous Pemphigoid	Weight loss, Diabetes mellitus	ORPHA:703
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Cachexia, Camptodactyly of finger, Nephropathy, Proteinuria	ORPHA:2774
Interstitial Lung And Liver Disease	Hypothyroidism, Failure to thrive, Vomiting, Aminoaciduria	OMIM:615486
Glutaric Acidemia I	Hypoglycemia, Failure to thrive, Ketonuria, Glutaric aciduria	OMIM:231670
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Keloids, Obesity	ORPHA:3085
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu...	ORPHA:79644
Seckel Syndrome 10	Glucose intolerance, Elevated circulating luteinizing hormone level, Glycosuria, Impaired glucose...	OMIM:617253
Graves Disease, Susceptibility To, 1	Decreased thyroid-stimulating hormone level, Graves disease, Increased circulating free T3, Weigh...	OMIM:275000
Oculocutaneous Albinism Type 2	Hyperpigmented nevi, Abnormality of retinal pigmentation, Blue irides, Hypopigmentation of the sk...	ORPHA:79432
Peroxisome Biogenesis Disorder 1A (Zellweger)	Failure to thrive, Aminoaciduria, Hypospadias, Adrenal hypoplasia, Dysphagia, Hydronephrosis, Ren...	OMIM:214100
Mitochondrial Dna Depletion Syndrome 18	Lacticaciduria, Failure to thrive	OMIM:618811
Lowe Oculocerebrorenal Syndrome	Failure to thrive, Constipation, Joint contracture of the hand, Aminoaciduria, Proximal renal tub...	OMIM:309000
Hawkinsinuria	Failure to thrive, 4-Hydroxyphenylpyruvic aciduria, Hypertyrosinemia, 4-hydroxyphenylacetic aciduria	OMIM:140350
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Generalized hirsutism, Hypopigmentation of hair, Fine hair	ORPHA:2221
Oculocutaneous Albinism Type 1B	Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Iris...	ORPHA:79434
Cap Polyposis	Constipation, Diarrhea, Hematochezia, Atrophic gastritis, Weight loss	ORPHA:160148
Monosomy 13Q34	Insulin resistance, Obesity, Fetal pyelectasis, Hematochezia	ORPHA:96168
Mandibuloacral Dysplasia With Type B Lipodystrophy	Glucose intolerance, Hyperinsulinemia, Flexion contracture, Loss of truncal subcutaneous adipose ...	OMIM:608612
Yao Syndrome	Nephrolithiasis, Weight loss, Xerostomia, Diarrhea	OMIM:617321
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Weight loss	ORPHA:86893
Primary Hyperoxaluria Type 3	Dysuria, Abnormal renal physiology, Calcium oxalate nephrolithiasis, Hematuria, Hyperoxaluria, Ab...	ORPHA:93600
Majeed Syndrome	Failure to thrive, Flexion contracture, Cachexia, Proteinuria, Glomerulopathy, Weight loss, Micro...	ORPHA:77297
Primary Lipodystrophy	Insulin resistance, Lipodystrophy, Type II diabetes mellitus, Lipoatrophy	ORPHA:90970
Wilson Disease	Hypoparathyroidism, Renal tubular dysfunction, Nephrolithiasis, Aminoaciduria, Chondrocalcinosis,...	OMIM:277900
Hereditary Pheochromocytoma-Paraganglioma	Paraganglioma of head and neck, Elevated urinary dopamine, Paraganglioma, Extraadrenal pheochromo...	ORPHA:29072
Oculocutaneous Albinism Type 1	Blue irides, Generalized hypopigmentation, Iris hypopigmentation, White eyebrow, White eyelashes,...	ORPHA:352731
Huntington Disease-Like 2	Weight loss	OMIM:606438
Acute Adrenal Insufficiency	Failure to thrive, Decreased circulating aldosterone level, Constipation, Decreased circulating c...	ORPHA:95409
Whipple Disease	Cachexia, Diarrhea, Hypothyroidism, Insulin resistance, Gastrointestinal hemorrhage	ORPHA:3452
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency	Ketonuria, Elevated urinary 3-hydroxybutyric acid, Vomiting	OMIM:245050
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Red hair	OMIM:609734
Parathyroid Carcinoma	Abnormality of the parathyroid morphology, Nephrolithiasis, Lipoma, Thyroid carcinoma, Constipati...	ORPHA:143
Acute Myelomonocytic Leukemia	Weight loss	ORPHA:517
Autism, Susceptibility To, 3	Increased serum serotonin, Ketonuria	OMIM:608049
Donohue Syndrome	Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Severe failure to thrive, Long ...	OMIM:246200
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	3-Methylglutaric aciduria, Vomiting, Hypoglycemia, Organic aciduria, Glutaric aciduria, Increased...	OMIM:246450
Bangstad Syndrome	Goiter, Small for gestational age, Insulin-resistant diabetes mellitus, Primary gonadal insuffici...	OMIM:210740
Oculocerebrorenal Syndrome Of Lowe	Abnormal calcium-phosphate regulating hormone level, Constipation, Hematuria, Proteinuria, Umbili...	ORPHA:534
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Failure to thrive, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Myoglobinuria, Diarrh...	ORPHA:71212
Holocarboxylase Synthetase Deficiency	Organic aciduria, Weight loss	ORPHA:79242
Systemic Capillary Leak Syndrome	Abnormal renal tubule morphology, Diarrhea, Oliguria, Renal insufficiency, Weight loss	ORPHA:188
Hyperlysinemia	Failure to thrive, Argininuria, Gastroesophageal reflux, Cystinuria, Vomiting, Decreased urine al...	ORPHA:2203
Perlman Syndrome	Hyperinsulinemia, Hypoplasia of penis, Inguinal hernia, Nephroblastoma, Femoral hernia	ORPHA:2849
Fatal Familial Insomnia	Dysphagia, Urinary retention, Weight loss, Constipation	OMIM:600072
Hodgkin Lymphoma	Weight loss	ORPHA:98293
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair	ORPHA:411515
Ermine Phenotype	Irregular hyperpigmentation, Ocular albinism, Hypopigmentation of hair, Iris hypopigmentation, Hy...	ORPHA:999
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Failure to thrive, Chronic kidney disease, Gastroesophageal reflux, Nephropathy, Hematuria, Vomit...	ORPHA:1018
Canavan Disease	Elevated urinary N-acetylaspartic acid level	OMIM:271900
Tubulointerstitial Nephritis And Uveitis Syndrome	Renal lymphocytic tubulitis, Aminoaciduria, Decreased glomerular filtration rate, Sterile pyuria,...	ORPHA:91500
Oculopharyngodistal Myopathy	Weight loss, Impaired oropharyngeal swallow response, Oral-pharyngeal dysphagia	ORPHA:98897
Familial Multiple Lipomatosis	Insulin resistance, Lipodystrophy, Increased adipose tissue	ORPHA:199276
Mitochondrial Neurogastrointestinal Encephalomyopathy	Gastroesophageal reflux, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Cachexia,...	ORPHA:298
Tryptophanuria With Dwarfism	Tryptophanuria	OMIM:276100
Igg4-Related Retroperitoneal Fibrosis	Dysuria, Nephrotic syndrome, Constipation, Hematuria, Membranous nephropathy, Renovascular hypert...	ORPHA:49041
Oculocutaneous Albinism Type 1A	Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation, A...	ORPHA:79431
Beta-Ketothiolase Deficiency	Ketonuria, Diarrhea, Vomiting, Hypoglycemia, Weight loss, Hyperglycemia	ORPHA:134
Congenital Muscular Dystrophy Due To Lmna Mutation	Cachexia, Flexion contracture	ORPHA:157973
Mpi-Cdg	Failure to thrive, Hyperinsulinemic hypoglycemia, Diarrhea, Vomiting, Hypothyroidism, Gastrointes...	ORPHA:79319
Pleural Mesothelioma	Dysphagia, Weight loss	ORPHA:50251
Lipodystrophy, Familial Partial, Type 2	Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperinsulinemia, ...	OMIM:151660
Hartnup Disease	Abnormal urinary color, Neutral hyperaminoaciduria	ORPHA:2116
Bardet-Biedl Syndrome 1	Abdominal obesity, Nephrogenic diabetes insipidus, Micropenis, Abnormality of the kidney, Truncal...	OMIM:209900
Peritoneal Cystic Mesothelioma	Weight loss, Constipation, Peritonitis	ORPHA:168816
Lysinuric Protein Intolerance	Argininuria, Failure to thrive, Oroticaciduria, Decreased response to growth hormone stimulation ...	ORPHA:470
Estrogen Resistance	Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance	OMIM:615363
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Ketonuria, Hypoglycemia, Renal steatosis, Impaired gluconeogenesis, Fasting hypoglycemia	OMIM:261680
Albinism, Oculocutaneous, Type Ia	Ocular albinism, Blue irides, Hypopigmentation of hair, Albinism, Absent skin pigmentation, White...	OMIM:203100
Bone Dysplasia, Lethal Holmgren Type	Failure to thrive, Weight loss, Diarrhea, Hernia	ORPHA:1842
Diffuse Alveolar Hemorrhage	Weight loss, Elevated circulating creatinine concentration, Hematuria, Proteinuria	ORPHA:90060
Addison Disease	Hypoparathyroidism, Thymoma, Decreased circulating aldosterone level, Failure to thrive, Constipa...	ORPHA:85138
D-Glyceric Aciduria	Hyperglycinuria	ORPHA:941
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyperactive renin-angiotensin system, Decreased circulating cortisol level, Abnormal response to ...	ORPHA:90794
Tenorio Syndrome	Hypoglycemia, Stomatitis, Hypoinsulinemia, Gastroesophageal reflux	OMIM:616260
Griscelli Syndrome Type 2	Partial albinism, Premature graying of hair, Hypopigmentation of hair, Iris hypopigmentation	ORPHA:79477
Bloom Syndrome	Abdominal obesity, Gastroesophageal reflux, Small for gestational age, Recurrent urinary tract in...	ORPHA:125
Renpenning Syndrome	Hypospadias, Cachexia, Diabetes mellitus	ORPHA:3242
Acrodysostosis 2 With Or Without Hormone Resistance	Red hair, Hypospadias, Fair hair, Blue irides	OMIM:614613
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Decreased thyroid-stimulating hormone level, Goiter, Weight loss, Hyperthyroidism	OMIM:613239
Focal Myositis	Weight loss	ORPHA:48918
Multiple Endocrine Neoplasia Type 4	Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, A...	ORPHA:276152
Flynn-Aird Syndrome	Cachexia, Primary adrenal insufficiency, Type II diabetes mellitus, Abnormality of the thyroid gland	ORPHA:2047
Eosinophilic Fasciitis	Weight loss, Fasciitis, Cellulitis	ORPHA:3165
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abnormality of the kidney, Weight loss, Diarrhea	ORPHA:54251
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Hyperthyroidism, Small for gestational age, Activating thyroid-stimulating hormone receptor defec...	ORPHA:424
Simple Cryoglobulinemia	Nephrotic syndrome, Mesangial hypercellularity, Nephritis, Abnormality of the kidney, Membranopro...	ORPHA:91139
Al Amyloidosis	Nephrotic syndrome, Renal interstitial amyloid deposits, Abnormality of the kidney, Xerostomia, P...	ORPHA:85443
Polyarteritis Nodosa	Abnormality of the kidney, Weight loss	ORPHA:767
Congenital Enterocyte Heparan Sulfate Deficiency	Weight loss, Diarrhea, Hematochezia	ORPHA:103910
Hermansky-Pudlak Syndrome 1	Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Freckles in sun-exposed ...	OMIM:203300
Renal Nutcracker Syndrome	Hematuria, Nausea, Proteinuria, Weight loss, Microscopic hematuria, Renal artery stenosis	ORPHA:71273
Malignant Peritoneal Mesothelioma	Ileus, Weight loss, Peritonitis	ORPHA:168811
Carney Complex, Type 1	Hirsutism, Multiple lentigines, Profuse pigmented skin lesions, Freckling, Red hair	OMIM:160980
Molybdenum Cofactor Deficiency, Complementation Group B	Xanthinuria, Increased urinary hypoxanthine, Increased urinary taurine, Xanthine nephrolithiasis	OMIM:252160
Juvenile Huntington Disease	Weight loss	ORPHA:248111
Aicardi-Goutieres Syndrome 9	Failure to thrive, Micropenis, Recurrent urinary tract infections, Hyperechogenic kidneys, Hypoth...	OMIM:619487
Waardenburg Syndrome, Type 4C	Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray...	OMIM:613266
Generalized Pseudohypoaldosteronism Type 1	Glucocortocoid-insensitive primary hyperaldosteronism, Vomiting, Increased circulating renin leve...	ORPHA:171876
Citrullinemia, Type Ii, Adult-Onset	Argininosuccinic aciduria	OMIM:603471
Riboflavin Transporter Deficiency	Dysphagia, Diabetes insipidus, Cachexia, Hypogonadism	ORPHA:97229
Acute Monoblastic/Monocytic Leukemia	Oliguria, Weight loss, Central hypothyroidism	ORPHA:514
Somatostatinoma	Medullary thyroid carcinoma, Abnormality of the thyroid gland, Pituitary adenoma, Elevated circul...	ORPHA:97283
Follicular Lymphoma	Weight loss	ORPHA:545
Tropical Pancreatitis	Maternal diabetes, Vomiting, Insulin-dependent but ketosis-resistant diabetes, Nausea, Weight loss	ORPHA:103918
Isolated Succinate-Coq Reductase Deficiency	Weight loss, Vesicoureteral reflux, Knee flexion contracture	ORPHA:3208
Christianson Syndrome	Dysphagia, Cachexia, Gastroesophageal reflux, Arthrogryposis multiplex congenita	ORPHA:85278
Osteootohepatoenteric Syndrome	Failure to thrive, Episodic vomiting, Proteinuria, Grade II vesicoureteral reflux, Weight loss, S...	OMIM:619377
Secondary Short Bowel Syndrome	Failure to thrive, Constipation, Enterocolitis, Steatorrhea, Diarrhea, Vomiting, Primary hypothyr...	ORPHA:95427
Mast Cell Sarcoma	Weight loss	ORPHA:66661
Neuroendocrine Tumor Of The Colon	Increased serum serotonin, Atypical pulmonary carcinoid tumor, Melena, Bloody diarrhea, Carcinoid...	ORPHA:100080
Argininemia	Diaminoaciduria, Oroticaciduria, Vomiting, Episodic vomiting	OMIM:207800
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Goiter, Weight loss, Hyperthyroidism	OMIM:188580
Multiple Endocrine Neoplasia Type 1	Increased serum serotonin, Pituitary growth hormone cell adenoma, Thymoma, Melena, Constipation, ...	ORPHA:652
Neuroendocrine Tumor Of The Rectum	Increased serum serotonin, Atypical pulmonary carcinoid tumor, Melena, Constipation, Bloody diarr...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Increased serum serotonin, Atypical pulmonary carcinoid tumor, Melena, Constipation, Bloody diarr...	ORPHA:100082
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Nephrocalcinosis, Aminoaciduria	OMIM:616084
Multiple Endocrine Neoplasia, Type Iia	Medullary thyroid carcinoma, Parathyroid adenoma, Increased circulating cortisol level, Elevated ...	OMIM:171400
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hypopigmentation of the skin, Cafe-au-lait spot, Hypopigmentation of hair, Reduced renal corticom...	OMIM:618541
Waardenburg Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormality of skin pigmentation, Synophry...	ORPHA:3440
Histidinemia	Hyperhistidinemia, Histidinuria	ORPHA:2157
Alstrom Syndrome	Hyperinsulinemia, Decreased response to growth hormone stimulation test, Nephritis, Hypergonadotr...	OMIM:203800
Late-Onset Isolated Acth Deficiency	Hypoparathyroidism, Failure to thrive, Adrenocorticotropic hormone deficiency, Graves disease, Pi...	ORPHA:199299
Ménétrier Disease	Gastroesophageal reflux, Diarrhea, Vomiting, Giant hypertrophic gastritis, Nausea, Gastrointestin...	ORPHA:2494
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Increased urine alpha-ketoglutarate concentration, Ketonuria, 3-hydroxydicarboxylic aciduria, Hyp...	OMIM:619355
Ataxia-Telangiectasia	Premature graying of hair, Hypopigmentation of hair, Multiple cafe-au-lait spots	ORPHA:100
Imerslund-Gräsbeck Syndrome	Failure to thrive, Constipation, Vomiting, Proteinuria, Weight loss	ORPHA:35858
Eosinophilic Granulomatosis With Polyangiitis	Gastroesophageal reflux, Hematuria, Intestinal obstruction, Tubulointerstitial nephritis, Dysphag...	ORPHA:183
Anaplastic Thyroid Carcinoma	Anaplastic thyroid carcinoma, Dysphagia, Weight loss, Nodular goiter, Goiter	ORPHA:142
Xfe Progeroid Syndrome	Corneal scarring, Failure to thrive, Cachexia, Enamel hypoplasia, Absence of subcutaneous fat, Pr...	OMIM:610965
Pfapa Syndrome	Weight loss	ORPHA:42642
Histidinemia	Hyperhistidinemia, Histidinuria	OMIM:235800
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic aciduria, Homocystinuria	OMIM:277410
Perry Syndrome	Weight loss	ORPHA:178509
Allergic Bronchopulmonary Aspergillosis	Weight loss	ORPHA:1164
Aromatase Deficiency	Type II diabetes mellitus, Eunuchoid habitus, Hypergonadotropic hypogonadism, Insulin resistance,...	ORPHA:91
Neuropathy, Congenital Hypomyelinating, 3	Gastroesophageal reflux, Flexion contracture, Cachexia, Arthrogryposis multiplex congenita, Limb ...	OMIM:618186
Orotic Aciduria	Failure to thrive, Oroticaciduria, Hematuria, Orotic acid crystalluria	OMIM:258900
Thymic Carcinoma	Weight loss, Neoplasm of the thymus	ORPHA:99868
Drug Reaction With Eosinophilia And Systemic Symptoms	Nephrotic syndrome, Tubulointerstitial nephritis, Renal insufficiency, Weight loss, Thyroiditis	ORPHA:139402
Cidec-Related Familial Partial Lipodystrophy	Loss of gluteal subcutaneous adipose tissue, Decreased serum leptin, Lipodystrophy, Insulin-resis...	ORPHA:435651
Polymyositis	Constipation, Gastroesophageal reflux, Abnormal renal tubule morphology, Chondrocalcinosis, Gastr...	ORPHA:732
Bronchial Neuroendocrine Tumor	Increased serum serotonin, Elevated circulating growth hormone concentration, Increased circulati...	ORPHA:97287
Primary Hyperoxaluria	Failure to thrive, Chronic kidney disease, Calcium oxalate nephrolithiasis, Hematuria, Hypercalci...	ORPHA:416
Methylmalonic Aciduria, Cblb Type	Failure to thrive, Ketonuria, Methylmalonic aciduria, Vomiting	OMIM:251110
Familial Gestational Hyperthyroidism	Hyperthyroidism, Activating thyroid-stimulating hormone receptor defect, Diarrhea, Weight loss, T...	ORPHA:99819
D-Lactic Aciduria With Gout	Lacticaciduria, Inguinal hernia	OMIM:245450
Benign Recurrent Intrahepatic Cholestasis	Weight loss, Chronic diarrhea	ORPHA:65682
Pemphigus Vulgaris	Atypical scarring of skin, Weight loss	ORPHA:704
Eosinophilic Gastroenteritis	Steatorrhea, Diarrhea, Vomiting, Hematochezia, Dysphagia, Weight loss	ORPHA:2070
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Corneal scarring, Failure to thrive, Impaired oropharyngeal swallow response, Small for gestation...	ORPHA:404454
Immunodeficiency 27A	Weight loss, Diarrhea	OMIM:209950
Ring Chromosome 10 Syndrome	Cachexia, Renal hypoplasia/aplasia	ORPHA:1438
Marbach-Rustad Progeroid Syndrome	Reduced subcutaneous adipose tissue, Insulin resistance	OMIM:619322
Ppoma	Pituitary adenoma, Abnormality of the thyroid gland, Elevated circulating growth hormone concentr...	ORPHA:97278
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