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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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.

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Occipital Hair, White Lock Of
White hair, Abnormal hair morphology OMIM:310900
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, Sparse hair, Fair hair OMIM:600628
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Generalized aminoaciduria, Hypoglycemia, Diarrhea, Failure to thrive, Vomiting,... OMIM:606528
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Book Syndrome
Premature graying of hair OMIM:112300
Albinism, Oculocutaneous, Type Iii
Albinism, Partial albinism, Red hair OMIM:203290
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... ORPHA:42665
Uncombable Hair Syndrome
Trichodysplasia, Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Woolly hair ORPHA:1410
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:214450
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypothyroidism, Abnormality of the urina... ORPHA:99886
Pseudopili Annulati
Abnormality of the scalp hair, Abnormality of hair texture OMIM:613241
Dilution, Pigmentary
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:126070
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Proximal tubulopathy, Aminoaciduria, Weight loss, Cachexia, Failure to thrive OMIM:612075
Waardenburg Syndrome, Type 2B
White forelock, Premature graying of hair, Heterochromia iridis OMIM:600193
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Hyper-Beta-Alaninemia
Failure to thrive, Increased urinary taurine OMIM:237400
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Delayed puberty, Truncal obesity, Decreased serum insulin-like growth factor 1, Insulin resistance ORPHA:140941
Valinemia
Vomiting, Valinuria, Failure to thrive OMIM:277100
Dibasic Amino Aciduria I
Dibasicaminoaciduria, Ornithinuria, Argininuria, Hyperlysinuria OMIM:222690
Dicarboxylic Aminoaciduria
Fasting hypoglycemia, Aspartic aciduria, Nephrolithiasis, Aminoaciduria OMIM:222730
Type 2 Diabetes Mellitus
Increased waist to hip ratio, Type II diabetes mellitus, Insulin resistance OMIM:125853
Combined Oxidative Phosphorylation Deficiency 36
Aciduria, Hypoglycemia, Failure to thrive OMIM:617950
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,... ORPHA:411593
Cystinuria
Recurrent urinary tract infections, Cystinuria, Ornithinuria, Argininuria, Renal insufficiency, N... OMIM:220100
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Aminoaciduria, Failure to thrive ORPHA:2278
Galactosemia Iii
Vomiting, Failure to thrive, Aminoaciduria, Galactosuria OMIM:230350
Lysine Malabsorption Syndrome
Renal tubular lysine transport defect, Hyperlysinuria OMIM:247950
Pentosuria
Abnormality of urine homeostasis OMIM:260800
Hyperprolinemia, Type Ii
Hyperglycinuria, Hydroxyprolinuria, Prolinuria OMIM:239510
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Nephrocalcinosis, Low-molecular-weight proteinuria, Hyposthenuria, Focal segmental glomeruloscler... OMIM:308990
Iminoglycinuria
Hyperglycinuria, Hydroxyprolinuria, Prolinuria OMIM:242600
Iminoglycinuria
Hyperglycinuria, Hydroxyprolinuria, Prolinuria ORPHA:42062
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 finger, Aminoaciduria, Increased urinary taurine, Camptodactyly of toe ORPHA:1325
Stimmler Syndrome
Abnormal dental enamel morphology, Aminoaciduria, Type II diabetes mellitus ORPHA:3199
Saccharopinuria
Histidinuria, Citrullinuria, Hyperlysinuria OMIM:268700
5-Oxoprolinase Deficiency
Calcium oxalate nephrolithiasis, Prolinuria, Diarrhea, Vomiting, Increased level of L-pyroglutami... OMIM:260005
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... ORPHA:293964
3-Hydroxyisobutyric Aciduria
Aminoaciduria, Failure to thrive OMIM:236795
Galactose Epimerase Deficiency
Aminoaciduria, Weight loss ORPHA:79238
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin OMIM:606952
Multiple Symmetric Lipomatosis
Abnormal adipose tissue morphology, Multiple lipomas, Insulin resistance ORPHA:2398
Growth Hormone Insensitivity Syndrome
Insulin resistance, Hypoglycemia, Truncal obesity, Type II diabetes mellitus, Failure to thrive, ... ORPHA:181393
Camptodactyly 1
Camptodactyly of finger, Increased urinary taurine OMIM:114200
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Hypoglycemia, Fasting ... ORPHA:263458
Acquired Partial Lipodystrophy
Insulin resistance, Lipoatrophy, Glomerulopathy, Microscopic hematuria, Proteinuria ORPHA:79087
Tremor Of Intention, Ataxia, And Lipofuscinosis
Premature graying of hair OMIM:190200
Ermine Phenotype
Vitiligo, Albinism, White eyebrow, White hair, White eyelashes, Spotty hyperpigmentation OMIM:227010
Mody
Abnormal oral glucose tolerance, Abnormal insulin level, Overweight, Exocrine pancreatic insuffic... ORPHA:552
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
White forelock, Macular hyperpigmented dermopathy ORPHA:2779
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Albinism, Blue irides OMIM:606574
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Woolly Hair
Hypopigmentation of hair, Slow-growing hair, Sparse lateral eyebrow, Brittle hair, Abnormality of... ORPHA:170
Histidinuria-Renal Tubular Defect Syndrome
Histidinuria, Impaired histidine renal tubular absorption, Hypoglycemia ORPHA:2158
Neonatal Severe Primary Hyperparathyroidism
Abnormality of the thyroid gland, Aminoaciduria, Abnormal calcium-phosphate regulating hormone level ORPHA:417
Tiglic Acidemia
Aminoaciduria OMIM:275190
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Ichthyosis, Split Hairs, And Amino Aciduria
Aminoaciduria OMIM:242550
Threoninemia
Hyperthreoninuria OMIM:273770
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Aminoaciduria ORPHA:79156
Cortisone Reductase Deficiency 2
Insulin resistance, Premature pubarche, Obesity OMIM:614662
Alaninuria With Microcephaly, Dwarfism, Enamel Hypoplasia, And Diabetes Mellitus
Enamel hypoplasia, Alaninuria, Diabetes mellitus OMIM:202900
Carnosinemia
Carnosinuria OMIM:212200
Diaminopentanuria
Hyperlysinuria, Cystinuria OMIM:222350
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Aminoaciduria, Hypoglycemia, Glycosuria, Diabetes mellitus, Large for gestatio... OMIM:616026
Hydroxylysinuria
Hyperlysinuria OMIM:236900
Carnosinase Deficiency
Carnosinuria ORPHA:1361
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin OMIM:614072
Indolylacroyl Glycinuria With Mental Retardation
Hyperglycinuria OMIM:243050
Cystathioninuria
Cystathioninuria OMIM:219500
Beta-Aminoisobutyric Aciduria
Beta-aminoisobutyric aciduria OMIM:210100
Phenylketonuria
Aminoaciduria ORPHA:716
Galactosemia I
Albuminuria, Hypergonadotropic hypogonadism, Aminoaciduria, Increased level of galactitol in urin... OMIM:230400
Hypotrichosis 8
Nail pits, Sparse hair, Dry hair, Ridged nail, Sparse axillary hair, Coarse hair, Fair hair, Spar... OMIM:278150
Lipodystrophy, Familial Partial, Type 6
Lipodystrophy, Diabetes mellitus, Insulin resistance, Abdominal obesity OMIM:615980
2P21 Microdeletion Syndrome
Hypoglycemia, Cystinuria, Failure to thrive, Hypogonadism, Nephrolithiasis ORPHA:163693
Hyperprolinemia, Type I
Hyperglycinuria, Hydroxyprolinuria, Prolinuria OMIM:239500
Dent Disease 2
Low-molecular-weight proteinuria, Proximal tubulopathy, Aminoaciduria, Umbilical hernia, Hypercal... OMIM:300555
Waardenburg Syndrome, Type 4B
White eyebrow, Premature graying of hair, Heterochromia iridis, White eyelashes, White forelock, ... OMIM:613265
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria
Alpha-aminoadipic aciduria OMIM:204750
Hyperglycinuria
Hyperglycinuria, Calcium oxalate nephrolithiasis OMIM:138500
Uncombable Hair Syndrome 3
Pili canaliculi, Curly hair, Uncombable hair OMIM:617252
White Forelock With Malformations
Poliosis, White forelock OMIM:277740
Hydroxykynureninuria
Renal tubular dysfunction, Aminoaciduria OMIM:236800
Homocarnosinosis
Carnosinuria OMIM:236130
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Diabetes mellitus, Insulin resistance OMIM:612227
Cystinosis
Nephrogenic diabetes insipidus, Hypothyroidism, Aminoaciduria, Nephropathy, Delayed puberty, Type... ORPHA:213
Griscelli Syndrome, Type 2
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:607624
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Combined Oxidative Phosphorylation Deficiency 52
Lacticaciduria, Aminoaciduria, Hypoglycemia, Adrenal insufficiency, Renal insufficiency OMIM:619386
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypo... OMIM:601820
Fanconi Renotubular Syndrome 2
Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Hypercalciuria, Renal insufficiency OMIM:613388
Woolly Hair, Autosomal Recessive 3
Sparse hair, Curly hair, Sparse scalp hair, Trichorrhexis nodosa, Fine hair, Sparse eyelashes OMIM:616760
Hypotonia-Cystinuria Syndrome
Nephrolithiasis, Failure to thrive, Cystinuria ORPHA:163690
Fanconi Renotubular Syndrome 1
Lacticaciduria, Aminoaciduria, Glycosuria, Renal insufficiency, Renal tubular dysfunction, Protei... OMIM:134600
Macular Dystrophy, Retinal, 1, North Carolina Type
Generalized aminoaciduria OMIM:136550
Histidinuria Due To A Renal Tubular Defect
Histidinuria, Impaired histidine renal tubular absorption OMIM:235830
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Aminoaciduria OMIM:204730
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity
Homocystinuria OMIM:236250
Hartnup Disorder
Neutral hyperaminoaciduria OMIM:234500
Mercaptolactate-Cysteine Disulfiduria
Aminoaciduria OMIM:249650
Familial Partial Lipodystrophy, Köbberling Type
Diabetes mellitus, Hyperinsulinemia, Lipoatrophy, Insulin resistance ORPHA:79084
Gracile Syndrome
Aminoaciduria OMIM:603358
Lipodystrophy, Familial Partial, Type 7
Lack of facial subcutaneous fat, Glucose intolerance, Insulin resistance, Impaired glucose tolera... OMIM:606721
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hypoglycemia ORPHA:664
Laryngeal Neuroendocrine Tumor
Neuroendocrine neoplasm, Increased serum serotonin, Weight loss, Adrenocorticotropic hormone exce... ORPHA:100083
Fanconi Renotubular Syndrome 3
Proteinuria, Aminoaciduria, Hyperphosphaturia, Glycosuria OMIM:615605
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Iris transillumination defect, Hypopigmentation of the skin OMIM:619165
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Type II diabetes mellitus, Obesity OMIM:615703
Waardenburg Syndrome, Type 2A
Albinism, White eyebrow, Premature graying of hair, Heterochromia iridis, Synophrys, White eyelas... OMIM:193510
Rowley-Rosenberg Syndrome
Reduced subcutaneous adipose tissue, Aminoaciduria OMIM:268500
Fanconi-Bickel Syndrome
Fasting hypoglycemia, Hyperphosphaturia, Generalized aminoaciduria, Postprandial hyperglycemia, I... ORPHA:2088
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypospadias, Hypopigmentation of hair ORPHA:1355
Cystathioninuria
Nephrolithiasis, Cystathioninuria ORPHA:212
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia, Methylmalonic aciduria, Aminoaciduria ORPHA:1933
Glucoglycinuria
Hyperglycinuria, Glycosuria OMIM:138070
Glutamate Formiminotransferase Deficiency
Aminoaciduria OMIM:229100
Fanconi-Bickel Syndrome
Hyperphosphaturia, Generalized aminoaciduria, Glycosuria, Failure to thrive, Reduced subcutaneous... OMIM:227810
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Heterochromia iridis, Premature graying of hair, White forelock, Hypopi... ORPHA:895
Methionine Malabsorption Syndrome
Diarrhea, Aminoaciduria OMIM:250900
Fanconi Renotubular Syndrome 5
Tubulointerstitial fibrosis, Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Proteinuria OMIM:618913
Pulmonary Blastoma
Weight loss ORPHA:64741
Dent Disease 1
Renal phosphate wasting, Low-molecular-weight proteinuria, Hyperphosphaturia, Proximal tubulopath... OMIM:300009
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Gonadotropin deficiency, Hyperinsulinemia, Pituitary hypothyroidism, Centr... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Gonadotropin deficiency, Hyperinsulinemia, Pituitary hypothyroidism, Centr... ORPHA:71526
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Freckling, Generalized hypopigmentation of hair, White eyebrow, Red hair, ... ORPHA:79433
Piebald Trait With Neurologic Defects
Absent pigmentation of the ventral chest, White forelock OMIM:172850
Insulin-Resistance Syndrome Type B
Hyperinsulinemic hypoglycemia, Weight loss, Type II diabetes mellitus, Insulin resistance, Abnorm... ORPHA:2298
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hyperphosphaturia, Aminoaciduria, Glycosuria, Failure to thrive, Renal Fanconi syndrome, Vomiting... ORPHA:436271
Hypertryptophanemia
Tryptophanuria, Camptodactyly of finger OMIM:600627
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Increased adipose tissue, Type II diabetes mellitus, Childhood-onset truncal ob... ORPHA:71529
Hyperoxaluria, Primary, Type Ii
Calcium oxalate nephrolithiasis, Hematuria, Hyperoxaluria, Aminoaciduria, Renal insufficiency, Ne... OMIM:260000
Tyrosinemia Type 1
Generalized aminoaciduria ORPHA:882
3-Methylcrotonyl-Coa Carboxylase Deficiency
Organic aciduria, Hypoglycemia, Failure to thrive in infancy ORPHA:6
Combined Malonic And Methylmalonic Aciduria
Vomiting, Methylmalonic aciduria, Diarrhea, Failure to thrive OMIM:614265
Urocanase Deficiency
Urocanic aciduria, Blue irides, Fair hair OMIM:276880
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Glycosuria, Type I diabetes mellitus, Small for gestational age, Ketonuria OMIM:618857
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
Woolly Hair, Autosomal Dominant
Dry hair, Abnormal hair morphology, Coarse hair, Slow-growing hair, Woolly hair OMIM:194300
Tuberculosis
Weight loss ORPHA:3389
Carbamoyl-Phosphate Synthetase 1 Deficiency
Aminoaciduria ORPHA:147
Carcinoma Of Esophagus
Dysphagia, Gastroesophageal reflux, Weight loss, Obesity ORPHA:70482
Biliary Malformation With Renal Tubular Insufficiency
Generalized aminoaciduria, Aminoaciduria, Glycosuria, Failure to thrive, Renal tubular dysfunctio... OMIM:210550
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Lipodystrophy, Reduced subcutaneous adipose tissue, Diabetes mellitus, Genera... OMIM:612526
Piebald Trait-Neurologic Defects Syndrome
Hypopigmentation of hair, Abnormal eyebrow morphology, Irregular hyperpigmentation, Heterochromia... ORPHA:2885
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Albinism, Freckles in sun-exposed areas, Red hair, Blue irides, Hypopig... OMIM:203200
Uncombable Hair Syndrome 1
Pili canaliculi, Uncombable hair, Dry hair OMIM:191480
Attrv30M Amyloidosis
Abnormal renal physiology, Constipation, Weight loss, Nephropathy, Diarrhea ORPHA:85447
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hyperphosphaturia, Aminoaciduria, Glycosuria, Failure to thrive, Renal Fanconi syndrome, Renal tu... OMIM:220110
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia OMIM:609968
Hyperlysinuria With Hyperammonemia
Dibasicaminoaciduria, Hyperlysinuria OMIM:238750
Dent Disease
Renal phosphate wasting, Hematuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Focal se... ORPHA:1652
Hypotonia-Cystinuria Syndrome
Neonatal hypoglycemia, Hypergonadotropic hypogonadism, Cystinuria, Failure to thrive, Nephrolithi... OMIM:606407
Hyperparathyroidism, Neonatal Severe
Hyperphosphaturia, Constipation, Polyuria, Aminoaciduria, Hypercalciuria, Primary hyperparathyroi... OMIM:239200
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Low-molecular-weight proteinuria, Bicarbonate-wasting renal tubular acid... ORPHA:3337
Muscular Dystrophy, Cardiac Type
Carnosinuria OMIM:309930
Glutamate-Cysteine Ligase Deficiency
Aminoaciduria ORPHA:33574
Idiopathic Achalasia
Dysphagia, Gastroesophageal reflux, Weight loss ORPHA:930
Methylmalonic Acidemia And Homocysteinemia, Cblx Type
Homocystinuria, Methylmalonic aciduria, Failure to thrive OMIM:309541
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin ORPHA:2786
Yemenite Deaf-Blind Hypopigmentation Syndrome
Patchy hypo- and hyperpigmentation, Numerous pigmented freckles, White forelock OMIM:601706
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Homocystinuria, Failure to thrive OMIM:250940
Elejalde Disease
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:256710
Mu-Heavy Chain Disease
Weight loss, Bence Jones Proteinuria, Nephropathy ORPHA:100024
Proximal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Bicarbonate-wasting renal tubular acidosis, Hyperphosphaturia, ... ORPHA:47159
Riboflavin Deficiency
Hypoglycemia, Dicarboxylic aciduria OMIM:615026
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Aminoaciduria OMIM:250620
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Aminoaciduria, Umbilical hernia, Failure to thrive, Ketonuria, Large for gestational age OMIM:614520
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Obesity OMIM:617885
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Lipe-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Insulin resistance, Increased adipose tissu... ORPHA:435660
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Homocystinuria, Failure to thrive OMIM:236270
D-Glyceric Aciduria
Aminoaciduria, Failure to thrive OMIM:220120
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Aminoaciduria OMIM:609560
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Increased urine alpha-ketoglutarate conc... ORPHA:35878
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Low-molecular-weight proteinuria, Hypothyroidism, Proximal tubulopathy, ... ORPHA:411634
Thiamine-Responsive Megaloblastic Anemia Syndrome
Gastroesophageal reflux, Aminoaciduria, Diabetes mellitus OMIM:249270
Glutathione Synthetase Deficiency
Increased level of L-pyroglutamic acid in urine OMIM:266130
Hypercalcemia, Infantile, 1
Polyuria, Weight loss, Hypercalciuria, Failure to thrive, Vomiting, Nephrocalcinosis, Nephrolithi... OMIM:143880
Distal Renal Tubular Acidosis
Hypocitraturia, Low-molecular-weight proteinuria, Hyperphosphaturia, Renal potassium wasting, Pro... ORPHA:18
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Insulin resistance, Lipodystrophy, Insulin-... ORPHA:79085
Hsd10 Disease
Dysphagia, Elevated urinary 3-hydroxybutyric acid, Abnormal urinary acylglycine profile ORPHA:391417
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketotic hypoglycemia, Postprandial hyperglycemia, Glycosuria, Failure to thrive, Ketonuria ORPHA:2089
Wilson Disease
Hyperphosphaturia, Chondrocalcinosis, Dysphagia, Aminoaciduria, Glycosuria, Hypercalciuria, Renal... OMIM:277900
Multiple Acyl-Coa Dehydrogenase Deficiency
Renal cortical cysts, Glutaric aciduria, Generalized aminoaciduria, Proximal tubulopathy, Nausea,... OMIM:231680
Hyperinsulinism Due To Glucokinase Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Type II diabetes... ORPHA:79299
Argininemia
Diaminoaciduria ORPHA:90
Solitary Fibrous Tumor/Hemangiopericytoma
Constipation, Hypoglycemia, Weight loss, Hypoinsulinemia, Urinary retention, Recurrent hypoglycemia ORPHA:2126
Albinism-Deafness Syndrome
Partial albinism, Piebaldism, Albinism, Patchy hypo- and hyperpigmentation OMIM:300700
Combined Oxidative Phosphorylation Deficiency 14
Aminoaciduria OMIM:614946
Infantile Nephropathic Cystinosis
Low-molecular-weight proteinuria, Hyperphosphaturia, Constipation, Aminoaciduria, Glycosuria, Abn... ORPHA:411629
Methylmalonyl-Coa Epimerase Deficiency
Ketonuria, Gastroesophageal reflux, Methylmalonic aciduria, Failure to thrive OMIM:251120
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Long penis, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Ins... OMIM:262190
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Hypoglycemia, Hyperglycinuria, Failure to thrive, Vomiting, Organic aciduria, Ketonuria OMIM:210210
Glycine Encephalopathy
Hyperglycinuria OMIM:605899
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Lipoatrophy, Loss of gluteal subcutaneous adipose tissue, Reduced subcutaneous ... ORPHA:280356
Hawkinsinuria
Hypothyroidism, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, Failure to thrive ORPHA:2118
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Insulin resistance, Insulin-resistant diabetes... ORPHA:90301
Waardenburg Syndrome, Type 4A
White eyebrow, Premature graying of hair, Heterochromia iridis, White eyelashes, White forelock, ... OMIM:277580
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Piebald Trait
Heterochromia iridis, Partial albinism, White forelock, Absent pigmentation of the ventral chest,... OMIM:172800
Mandibuloacral Dysplasia
Increased intraabdominal fat, Glucose intolerance, Hyperinsulinemia, Insulin resistance, Increase... ORPHA:2457
Diencephalic Syndrome
Cachexia, Long penis, Decreased body weight, Abnormality of the hypothalamus-pituitary axis ORPHA:1672
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperinsulinemia, Insulin resistance, Reduced intraabdominal adipose tissue, Reduced subcutaneous... ORPHA:363400
Congenital Generalized Lipodystrophy
Hyperinsulinemia, Insulin resistance, Adipose tissue loss, Lipodystrophy, Precocious puberty in f... ORPHA:528
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Multiple pancreat... OMIM:147630
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin OMIM:257800
Combined Malonic And Methylmalonic Acidemia
Hypoglycemia, Methylmalonic aciduria, Failure to thrive, Dicarboxylic aciduria, Vomiting, Intermi... ORPHA:289504
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Methylmalonic aciduria, Aminoaciduria, Failure to thrive OMIM:612073
Central Diabetes Insipidus
Nocturia, Weight loss, Diarrhea, Failure to thrive, Diabetes insipidus ORPHA:178029
Neuroectodermal Melanolysosomal Disease
Generalized hyperpigmentation, Hypopigmentation of hair, Hypopigmentation of the skin, Premature ... ORPHA:33445
Adrenocortical Carcinoma
Abnormality of urine homeostasis, Increased urinary cortisol level, Abnormal circulating dehydroe... ORPHA:1501
Neuroblastoma, Susceptibility To, 1
Elevated urinary dopamine, Elevated urinary homovanillic acid, Weight loss, Abnormality of urine ... OMIM:256700
Pearson Marrow-Pancreas Syndrome
Complex organic aciduria, 3-Methylglutaric aciduria, Small for gestational age, Type I diabetes m... OMIM:557000
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Hereditary Central Diabetes Insipidus
Vomiting, Diabetes insipidus, Diarrhea, Weight loss ORPHA:30925
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, ... ORPHA:276608
Familial Expansile Osteolysis
Hydroxyprolinuria OMIM:174810
Glutaric Aciduria Iii
Goiter, Glutaric aciduria, Diarrhea, Failure to thrive, Vomiting, Hyperthyroidism OMIM:231690
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Constipation, Cachexia, Weight loss OMIM:613662
Familial Glucocorticoid Deficiency
Hypoglycemic seizures, Decreased circulating dehydroepiandrosterone concentration, Impaired corti... ORPHA:361
Glucose-Galactose Malabsorption
Hematuria, Weight loss, Diarrhea, Failure to thrive, Vomiting, Renal insufficiency, Nephrolithiasis ORPHA:35710
Xfe Progeroid Syndrome
Enamel hypoplasia, Absence of subcutaneous fat, Cachexia, Renal insufficiency, Proteinuria OMIM:610965
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Neonatal hypoglycemia, Hyp... ORPHA:263455
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Ulcerative colitis, Weight loss, Diarrhea, Recurrent aphthou... OMIM:266600
Waardenburg-Shah Syndrome
Hypopigmentation of hair, Abnormal eyebrow morphology, Abnormality of retinal pigmentation, White... ORPHA:897
Silver-Russell Syndrome
Insulin resistance, Premature adrenarche, Constipation, Abnormality of the urinary system, Gastro... ORPHA:813
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hyperglycinuria, Vomiting, Medium chain dicarboxylic aciduria, Hypoglycemia OMIM:201450
Sarcosinemia
Hypersarcosinuria ORPHA:3129
Dermotrichic Syndrome
Aminoaciduria ORPHA:99688
Fructose Intolerance, Hereditary
Hyperphosphaturia, Gastrointestinal hemorrhage, Transient aminoaciduria, Proximal tubulopathy, Na... OMIM:229600
Familial Partial Lipodystrophy, Dunnigan Type
Cellulitis, Insulin resistance, Lipoatrophy, Lipodystrophy, Glomerulopathy, Diabetes mellitus, Lo... ORPHA:2348
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of hair, Albinism, Abnormality of retinal pigmentation, W... ORPHA:79435
Acquired Central Diabetes Insipidus
Diabetes insipidus, Pollakisuria, Weight loss ORPHA:95626
Piebaldism
Hypopigmentation of hair, White eyebrow, Heterochromia iridis, Synophrys, White eyelashes, White ... ORPHA:2884
Sialidosis Type 1
Hernia, Urinary excretion of sialylated oligosaccharides, Increased urinary O-linked sialopeptide... ORPHA:812
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Hypoglycemia, Truncal obesity, Small for gestational age, Failure to thrive, ... ORPHA:73272
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Inflammatory Pseudotumor Of The Liver
Vomiting, Nausea, Weight loss, Diabetes mellitus ORPHA:90003
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Generalized aminoaciduria, Vomiting, Hypoglycemia, Failure to thrive OMIM:251880
Vogt-Koyanagi-Harada Disease
Vitiligo, Abnormal eyebrow morphology, Premature graying of hair, Abnormal eyelash morphology, Po... ORPHA:3437
Isobutyryl-Coa Dehydrogenase Deficiency
Vomiting, Ketotic hypoglycemia, Dicarboxylic aciduria ORPHA:79159
Propionic Acidemia
Organic aciduria, Constipation, Hypoglycemia ORPHA:35
Leber Congenital Amaurosis 1
Hyperthreoninuria OMIM:204000
Pseudomyxoma Peritonei
Inflammation of the large intestine, Constipation, Weight loss, Hernia, Intestinal obstruction ORPHA:26790
Succinic Semialdehyde Dehydrogenase Deficiency
Elevated urinary 4-hydroxybutyric acid, Increased level of gamma-aminobutyric acid in urine OMIM:271980
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Neonatal hypoglycemia, Aminoaciduria, Hypoglycemia, Small for gestational age, Failure to thrive OMIM:619055
Albinism-Deafness Syndrome
Irregular hyperpigmentation, Heterochromia iridis, Partial albinism, Hypopigmented skin patches, ... ORPHA:998
Lipodystrophy, Familial Partial, Type 1
Lipodystrophy, Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus, Inc... OMIM:608600
Short Syndrome
Abnormal dental enamel morphology, Insulin resistance, Lipodystrophy, Weight loss, Inguinal herni... ORPHA:3163
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia, Ketonuria OMIM:616095
Dopamine Beta-Hydroxylase Deficiency
Elevated urinary dopamine, Hyperinsulinemia, Insulin resistance, Nocturia, Elevated circulating c... ORPHA:230
Peroxisome Biogenesis Disorder 2A (Zellweger)
Camptodactyly, Aminoaciduria, Hypoplasia of the thymus, Polycystic kidney dysplasia, Joint contra... OMIM:214110
Interstitial Lung And Liver Disease
Hypothyroidism, Aminoaciduria, Failure to thrive OMIM:615486
Fumarase Deficiency
Reduced subcutaneous adipose tissue, Aminoaciduria, Failure to thrive OMIM:606812
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Focal pancreatic islet hyperplasia, Hyperinsulinemic... ORPHA:276575
Non-Functioning Paraganglioma
Elevated urinary dopamine, Hematuria, Elevated urinary norepinephrine, Nausea, Elevated urinary e... ORPHA:94080
Retinitis Pigmentosa
Hyperinsulinemia, Atypical scarring of skin, Type II diabetes mellitus, Hypoplasia of penis, Hypo... ORPHA:791
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Insulin resistance, Panniculitis, Insulin-resistant diabetes mellitus, Generali... ORPHA:79086
Propionic Acidemia
Constipation, Hypoglycemia, Hyperglycinuria, Failure to thrive, Vomiting, Increased level of hipp... OMIM:606054
Zollinger-Ellison Syndrome
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Adrenoco... ORPHA:913
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hematuria, Cystathioninuria, Nephropathy, Hemolytic-uremic syndrome, Methylmalonic aciduria, Fail... OMIM:277400
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Enamel hypoplasia, Generalized aminoaciduria, Failure to thrive, Elevated circulating parathyroid... OMIM:264700
Isolated Permanent Neonatal Diabetes Mellitus
Arthrogryposis multiplex congenita, Hyperglycemia, Contractures of the joints of the lower limbs,... ORPHA:99885
Huntington Disease-Like 2
Weight loss ORPHA:98934
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypoglycemia, Tubulointerstitial nephritis, Aminoaciduria, Failure to thrive OMIM:124000
Wild Type Attr Amyloidosis
Chronic diarrhea, Nephropathy, Weight loss, Bowel incontinence, Nephrotic syndrome, Renal insuffi... ORPHA:330001
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Obesity ORPHA:329249
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Flexion contracture, Lipoatrophy, Lipodystrophy, Weight loss, Type I diabetes mellitus, Cachexia,... ORPHA:1979
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Stomatitis, Cystathioninuria, Methylmalonic aciduria, Failure to thrive, Homocystinuria OMIM:277380
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity OMIM:618406
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Short eyelashes, Sparse axillary hair, Absent eyebrow, Fair hair, Sparse scalp hair, Sparse pubic... OMIM:601375
Placental Insufficiency
Small for gestational age, Insulin resistance ORPHA:439167
Thymic Neuroendocrine Tumor
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Neuroendocrine neoplasm, ... ORPHA:97289
Dimethylglycine Dehydrogenase Deficiency
Elevated urinary N,N-dimethylglycine level OMIM:605850
Galactokinase Deficiency
Hyperinsulinemia, Hypergonadotropic hypogonadism, Hypoglycemia, Increased level of galactitol in ... ORPHA:79237
Inflammatory Bowel Disease 11
Inflammation of the large intestine, Diarrhea, Weight loss, Hematochezia OMIM:191390
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Insulin resistance, Dysphagia, Constipation, Flexion contracture, Lipodystrophy... OMIM:613327
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Encephalopathy Due To Sulfite Oxidase Deficiency
Aminoaciduria ORPHA:833
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Proteinuria OMIM:603585
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Vomiting, Ketonuria, Hypoglycemia, Failure to thrive OMIM:210200
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Central hypothyroidism, Decreas... ORPHA:453533
Bruck Syndrome 2
Hydroxyprolinuria, Flexion contracture, Inguinal hernia, Knee flexion contracture, Elbow flexion ... OMIM:609220
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Renal hypoplasia, Dysphagia, Gastroesophageal reflux, Aminoaciduria, Hydronephrosis OMIM:617913
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemia, Central hypot... OMIM:619326
Gitelman Syndrome
Nocturia, Primary hyperaldosteronism, Delayed puberty, Diarrhea, Type II diabetes mellitus, Parat... ORPHA:358
Chronic Hiccup
Weight loss ORPHA:396
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Dysphagia, Gastroesophageal reflux, Gastrointestinal hemorrhage, Weight loss ORPHA:2198
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Distal arthrogryposis, Diarrhea, Cachexia, Elevated urinary 3-hydroxybutyric acid, ... ORPHA:42
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Delayed puberty, Hyperinsulinemic hypoglycemia, Dorsocervical fat pad OMIM:616033
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Insulin resistance, Lipodystrophy, Flexion contracture, Hypogonadism, Diabetes mellitus OMIM:615381
Hirschsprung Disease
Constipation, Neoplasm of the thyroid gland, Weight loss, Failure to thrive in infancy, Diarrhea,... ORPHA:388
Leigh Syndrome
Lacticaciduria, Complex organic aciduria, Generalized aminoaciduria, Dysphagia, Hypoglycemia, Ren... ORPHA:506
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Hypogonadism, Aminoaciduria OMIM:273400
Griscelli Syndrome Type 1
Iris hypopigmentation, White hair, Partial albinism, Premature graying of hair ORPHA:79476
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Obesity ORPHA:369873
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Isaac Syndrome
Weight loss ORPHA:84142
Cystinosis, Nephropathic
Male hypogonadism, Exocrine pancreatic insufficiency, Generalized aminoaciduria, Dysphagia, Polyu... OMIM:219800
Rabson-Mendenhall Syndrome
Fasting hypoglycemia, Long penis, Insulin resistance, Postprandial hyperglycemia, Impaired glucos... ORPHA:769
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Esophagitis, Fasting hypoglycemia, Horseshoe kidney, Insulin resistance, Premature adrenarche, Co... ORPHA:96182
Pparg-Related Familial Partial Lipodystrophy
Maternal diabetes, Insulin resistance, Lipoatrophy, Insulin-resistant diabetes mellitus, Diabetes... ORPHA:79083
Waardenburg Syndrome Type 1
Hypopigmentation of hair, White eyebrow, Premature graying of hair, Abnormal hair morphology, Het... ORPHA:894
Oculocutaneous Albinism
Iris hypopigmentation, Hypopigmentation of hair, Generalized hypopigmentation of hair, White eyeb... ORPHA:55
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Nephroblastoma
Nephroblastoma, Hematuria, Weight loss ORPHA:654
Leprechaunism
Fasting hypoglycemia, Long penis, Hyperinsulinemia, Enlarged kidney, Insulin resistance, Recurren... ORPHA:508
Gyrate Atrophy Of Choroid And Retina
Aminoaciduria ORPHA:414
Hereditary Orotic Aciduria
Oroticaciduria, Abnormality of the ureter, Aminoaciduria, Orotic acid crystalluria ORPHA:30
Aredyld Syndrome
Abnormal dental enamel morphology, Lipoatrophy, Abnormality of the ureter, Type I diabetes mellit... ORPHA:1133
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:177910
Moynahan Syndrome
Hypogonadism, Cachexia ORPHA:2574
Liposarcoma
Abnormality of the kidney, Weight loss ORPHA:69078
Rhabdoid Tumor
Renal neoplasm, Hematuria, Weight loss ORPHA:69077
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Minimal subcutaneous fat, Increased intraabdominal fat, Decreased serum leptin, Insulin resistanc... ORPHA:280365
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Homocystinuria, Gastroesophageal reflux, Methylmalonic aciduria, Inguinal hernia OMIM:614857
Argininosuccinic Aciduria
Oroticaciduria, Vomiting, Aminoaciduria, Failure to thrive OMIM:207900
Short Stature, Microcephaly, And Endocrine Dysfunction
Insulin resistance, Renal hypoplasia, Hypothyroidism, Unilateral renal agenesis, Truncal obesity,... OMIM:616541
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Hyperinsulinemia, Lipodystrophy, Insulin-resistant diabetes mellitus, Loss of ... OMIM:604367
Argininosuccinic Aciduria
Oroticaciduria, Aminoaciduria ORPHA:23
Medullary Thyroid Carcinoma
Elevated calcitonin, Pheochromocytoma, Dysphagia, Weight loss, Diarrhea, Primary hyperparathyroid... ORPHA:1332
Mulibrey Nanism
Cachexia ORPHA:2576
Spinocerebellar Ataxia 48
Urinary incontinence, Dysphagia, Cachexia OMIM:618093
Lysinuric Protein Intolerance
Nausea, Aminoaciduria, Vomiting, Truncal obesity, Diarrhea, Stage 5 chronic kidney disease, Failu... OMIM:222700
Sporadic Pheochromocytoma/Secreting Paraganglioma
Elevated urinary dopamine, Hematuria, Extraadrenal pheochromocytoma, Elevated urinary norepinephr... ORPHA:276621
Hypocalcemic Vitamin D-Dependent Rickets
Enamel hypoplasia, Generalized aminoaciduria, Failure to thrive, Elevated circulating parathyroid... ORPHA:289157
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Isovaleric Acidemia
Hyperglycinuria, Vomiting OMIM:243500
Reticular Dysgenesis
Failure to thrive, Diarrhea, Weight loss, Aplasia/Hypoplasia of the thymus ORPHA:33355
Erythrokeratodermia Variabilis
Diabetes mellitus, Weight loss ORPHA:317
Insulinoma
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Fasting hyperinsulinemia, Neoplasm of the adrena... ORPHA:97279
Marburg Hemorrhagic Fever
Weight loss, Hematuria, Diarrhea, Gastrointestinal hemorrhage ORPHA:99826
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:66628
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Cachexia, Nephropathy, Proteinuria ORPHA:2774
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Hypok... ORPHA:276556
Molybdenum Cofactor Deficiency, Complementation Group A
Xanthinuria, Decreased urinary urate, Increased urinary thiosulfate, Increased urinary taurine, X... OMIM:252150
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Homocystinuria, Inguinal hernia, Failure to thrive, Methioninuria OMIM:236200
Peroxisome Biogenesis Disorder 1A (Zellweger)
Adrenal hypoplasia, Albuminuria, Aminoaciduria, Hydronephrosis, Failure to thrive, Hypospadias, R... OMIM:214100
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Hypopigmentation of hair, Abnormality of retinal pigmentation, Freckling, ... ORPHA:79432
Bullous Pemphigoid
Diabetes mellitus, Weight loss ORPHA:703
Hawkinsinuria
4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, Failure to thrive, Hypertyrosinemia OMIM:140350
Werner Syndrome
Slender build, Renal neoplasm, Chondrocalcinosis, Insulin resistance, Lipoatrophy, Lipodystrophy,... ORPHA:902
Primary Hyperoxaluria Type 3
Abnormality of urine homeostasis, Dysuria, Abnormal renal physiology, Calcium oxalate nephrolithi... ORPHA:93600
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Hypergonadotropic hypogonadism, Keloids, Type II diabetes mellitus, Obesity ORPHA:3085
Pancreatic Agenesis 1
Diabetes mellitus, Neonatal insulin-dependent diabetes mellitus, Exocrine pancreatic insufficienc... OMIM:260370
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:179494
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Hypopigmentation of hair, Albinism, Abnormality of retinal pigmentation, F... ORPHA:79434
Yao Syndrome
Xerostomia, Diarrhea, Nephrolithiasis, Weight loss OMIM:617321
Netherton Syndrome
Ectopic kidney, Aminoaciduria, Hydronephrosis ORPHA:634
Mitochondrial Dna Depletion Syndrome 18
Lacticaciduria, Failure to thrive OMIM:618811
Acquired Hypertrichosis Lanuginosa
Generalized hirsutism, Hypopigmentation of hair, Abnormal eyebrow morphology, Fine hair ORPHA:2221
Cap Polyposis
Hematochezia, Constipation, Chronic atrophic gastritis, Weight loss, Diarrhea ORPHA:160148
Monosomy 13Q34
Obesity, Fetal pyelectasis, Insulin resistance, Hematochezia ORPHA:96168
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss ORPHA:86893
Autism, Susceptibility To, 3
Ketonuria, Increased serum serotonin OMIM:608049
Parathyroid Carcinoma
Parathyroid carcinoma, Lipoma, Chondrocalcinosis, Dysphagia, Constipation, Weight loss, Hypercalc... ORPHA:143
Glutaric Acidemia I
Glutaric aciduria, Ketonuria, Hypoglycemia, Failure to thrive OMIM:231670
Hereditary Pheochromocytoma-Paraganglioma
Elevated urinary dopamine, Hematuria, Extraadrenal pheochromocytoma, Elevated urinary norepinephr... ORPHA:29072
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Vomiting, Ketonuria, Elevated urinary 3-hydroxybutyric acid OMIM:245050
Whipple Disease
Gastrointestinal hemorrhage, Insulin resistance, Hypothyroidism, Diarrhea, Cachexia ORPHA:3452
Majeed Syndrome
Flexion contracture, Weight loss, Glomerulopathy, Microscopic hematuria, Cachexia, Failure to thr... ORPHA:77297
Huntington Disease-Like 2
Weight loss OMIM:606438
Canavan Disease
Elevated urinary N-acetylaspartic acid level OMIM:271900
Acute Adrenal Insufficiency
Androgen insufficiency, Renal insufficiency, Adrenal hypoplasia, Primary adrenal insufficiency, C... ORPHA:95409
Oculocutaneous Albinism Type 1
Iris hypopigmentation, Generalized hypopigmentation of hair, White eyebrow, White eyelashes, Gene... ORPHA:352731
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Donohue Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Long penis, Postprandial hyperglycemia, Adipose tissue lo... OMIM:246200
Hyperlysinemia
Decreased urine alpha-ketoglutarate concentration, Dysphagia, Gastroesophageal reflux, Cystinuria... ORPHA:2203
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair OMIM:609734
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Seckel Syndrome 10
Elevated circulating luteinizing hormone level, Glucose intolerance, Insulin resistance, Impaired... OMIM:617253
Bangstad Syndrome
Goiter, Small for gestational age, Primary gonadal insufficiency, Insulin-resistant diabetes mell... OMIM:210740
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Glutaric aciduria, Increased level of 3-hydroxy-3-methylglutaric acid in urine, 3-Methylglutaric ... OMIM:246450
Holocarboxylase Synthetase Deficiency
Organic aciduria, Weight loss ORPHA:79242
Systemic Capillary Leak Syndrome
Abnormal renal tubule morphology, Weight loss, Oliguria, Diarrhea, Renal insufficiency ORPHA:188
Oculocerebrorenal Syndrome Of Lowe
Abnormal dental enamel morphology, Hematuria, Hypercalciuria, Delayed puberty, Renal insufficienc... ORPHA:534
Primary Lipodystrophy
Lipodystrophy, Lipoatrophy, Type II diabetes mellitus, Insulin resistance ORPHA:90970
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Fasting hypoglycemia, Renal steatosis, Impaired gluconeogenesis, Hypoglycemia, Ketonuria OMIM:261680
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Hypoketotic hypoglyc... ORPHA:71212
Fatal Familial Insomnia
Dysphagia, Constipation, Urinary retention, Weight loss OMIM:600072
Lowe Oculocerebrorenal Syndrome
Enamel hypoplasia, Camptodactyly of finger, Hyperphosphaturia, Constipation, Aminoaciduria, Bicar... OMIM:309000
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Hematuria, Dysphagia, Gastroesophageal reflux, Achalasia, Nephropathy, Weight loss, Hypoperistals... ORPHA:1018
Perlman Syndrome
Hyperinsulinemia, Inguinal hernia, Nephroblastoma, Femoral hernia, Hypoplasia of penis ORPHA:2849
Ermine Phenotype
Iris hypopigmentation, Hypopigmentation of hair, Irregular hyperpigmentation, Ocular albinism, Hy... ORPHA:999
Hodgkin Lymphoma
Weight loss ORPHA:98293
Familial Multiple Lipomatosis
Lipodystrophy, Increased adipose tissue, Insulin resistance ORPHA:199276
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:411515
Oculopharyngodistal Myopathy
Oral-pharyngeal dysphagia, Weight loss, Impaired oropharyngeal swallow response ORPHA:98897
Igg4-Related Retroperitoneal Fibrosis
Dysuria, Unilateral renal hypoplasia, Hematuria, Acute kidney injury, Renovascular hypertension, ... ORPHA:49041
Congenital Muscular Dystrophy Due To Lmna Mutation
Flexion contracture, Cachexia ORPHA:157973
Tryptophanuria With Dwarfism
Tryptophanuria OMIM:276100
Lysinuric Protein Intolerance
Abnormal renal tubule morphology, Renal amyloidosis, Membranous nephropathy, Steatorrhea, Decreas... ORPHA:470
Carney Complex, Type 1
Freckling, Red hair, Hirsutism, Profuse pigmented skin lesions, Multiple lentigines OMIM:160980
Beta-Ketothiolase Deficiency
Hyperglycemia, Weight loss, Hypoglycemia, Diarrhea, Vomiting, Ketonuria ORPHA:134
Oculocutaneous Albinism Type 1A
Iris hypopigmentation, Hypopigmentation of hair, Albinism, Freckling, Ocular albinism, Hypopigmen... ORPHA:79431
Addison Disease
Androgen insufficiency, Adrenal hypoplasia, Adrenal calcification, Primary adrenal insufficiency,... ORPHA:85138
Graves Disease, Susceptibility To, 1
Graves disease, Goiter, Weight loss OMIM:275000
Mitochondrial Neurogastrointestinal Encephalomyopathy
Hypergonadotropic hypogonadism, Dysphagia, Nausea, Gastroesophageal reflux, Weight loss, Diarrhea... ORPHA:298
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal lymphocytic tubulitis, Mild proteinuria, Renal tubular epithelial necrosis, Renal neutrophi... ORPHA:91500
Peritoneal Cystic Mesothelioma
Peritonitis, Constipation, Weight loss ORPHA:168816
Pleural Mesothelioma
Dysphagia, Weight loss ORPHA:50251
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Ocular albinism, Blue i... OMIM:203100
Bone Dysplasia, Lethal Holmgren Type
Failure to thrive, Diarrhea, Weight loss, Hernia ORPHA:1842
Hartnup Disease
Neutral hyperaminoaciduria, Abnormal urinary color ORPHA:2116
Congenital Disorder Of Glycosylation, Type Ib
Vomiting, Hyperinsulinemic hypoglycemia, Diarrhea, Failure to thrive OMIM:602579
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Goiter, Weight loss, Activating thyroid-stimulating hormone receptor defect, Diarrhea, Small for ... ORPHA:424
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Slender build, Constipation, Weight loss, Cachexia, Vomiting, Gastroparesis, Intermittent diarrhea OMIM:603041
Griscelli Syndrome Type 2
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism, Premature graying of hair ORPHA:79477
Lipodystrophy, Familial Partial, Type 2
Increased intraabdominal fat, Hyperinsulinemia, Adipose tissue loss, Increased adipose tissue aro... OMIM:151660
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperinsulinemia, Flexion contracture, Insulin-resistant diabetes mellitus, ... OMIM:608612
Bloom Syndrome
Insulin resistance, Adipose tissue loss, Gastroesophageal reflux, Recurrent urinary tract infecti... ORPHA:125
Renpenning Syndrome
Hypospadias, Diabetes mellitus, Cachexia ORPHA:3242
Mast Cell Sarcoma
Weight loss ORPHA:66661
Focal Myositis
Weight loss ORPHA:48918
Tenorio Syndrome
Hypoinsulinemia, Gastroesophageal reflux, Stomatitis, Hypoglycemia OMIM:616260
Multiple Endocrine Neoplasia Type 4
Hyperinsulinemic hypoglycemia, Elevated circulating growth hormone concentration, Increased circu... ORPHA:276152
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Diarrhea, Abnormality of the kidney, Weight loss ORPHA:54251
Eosinophilic Fasciitis
Cellulitis, Weight loss, Fasciitis ORPHA:3165
Acrodysostosis 2 With Or Without Hormone Resistance
Hypospadias, Red hair, Blue irides, Fair hair OMIM:614613
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration, Hematuria, Weight loss, Proteinuria ORPHA:90060
Multiple Endocrine Neoplasia, Type Iia
Elevated urinary dopamine, Increased circulating cortisol level, Elevated urinary norepinephrine,... OMIM:171400
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90794
Renal Nutcracker Syndrome
Hematuria, Nausea, Weight loss, Microscopic hematuria, Renal artery stenosis, Proteinuria ORPHA:71273
Christianson Syndrome
Arthrogryposis multiplex congenita, Dysphagia, Gastroesophageal reflux, Cachexia ORPHA:85278
Malignant Peritoneal Mesothelioma
Peritonitis, Weight loss, Ileus ORPHA:168811
Waardenburg Syndrome, Type 4C
White eyebrow, Premature graying of hair, Heterochromia iridis, White eyelashes, White forelock, ... OMIM:613266
Multiple Endocrine Neoplasia Type 1
Pancreatic endocrine tumor, Elevated circulating growth hormone concentration, Increased circulat... ORPHA:652
Somatostatinoma
Subcutaneous lipoma, Elevated circulating growth hormone concentration, Increased circulating cor... ORPHA:97283
Flynn-Aird Syndrome
Primary adrenal insufficiency, Abnormality of the thyroid gland, Cachexia, Type II diabetes mellitus ORPHA:2047
Juvenile Huntington Disease
Weight loss ORPHA:248111
Generalized Pseudohypoaldosteronism Type 1
Increased circulating renin level, Weight loss, Failure to thrive in infancy, Glucocortocoid-inse... ORPHA:171876
Polyarteritis Nodosa
Abnormality of the kidney, Weight loss ORPHA:767
Molybdenum Cofactor Deficiency, Complementation Group B
Xanthine nephrolithiasis, Xanthinuria, Increased urinary hypoxanthine, Increased urinary taurine OMIM:252160
Riboflavin Transporter Deficiency
Dysphagia, Hypogonadism, Cachexia, Diabetes insipidus ORPHA:97229
Acute Monoblastic/Monocytic Leukemia
Oliguria, Central hypothyroidism, Weight loss ORPHA:514
Congenital Enterocyte Heparan Sulfate Deficiency
Diarrhea, Weight loss, Hematochezia ORPHA:103910
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Goiter, Hyperthyroidism, Weight loss OMIM:613239
Histidinemia
Histidinuria, Hyperhistidinemia ORPHA:2157
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Goiter, Hyperthyroidism, Weight loss OMIM:188580
Follicular Lymphoma
Weight loss ORPHA:545
Argininemia
Diaminoaciduria, Vomiting, Episodic vomiting, Oroticaciduria OMIM:207800
Alstrom Syndrome
Hyperinsulinemia, Multinodular goiter, Hypergonadotropic hypogonadism, Hypothyroidism, Insulin-re... OMIM:203800
Paget Disease Of Bone 5, Juvenile-Onset
Macular scar, Hydroxyprolinuria OMIM:239000
Al Amyloidosis
Albuminuria, Gastrointestinal hemorrhage, Dysphagia, Weight loss, Xerostomia, Gastroparesis, Neph... ORPHA:85443
Late-Onset Isolated Acth Deficiency
Decreased circulating ACTH level, Adrenocorticotropin deficient adrenal insufficiency, Graves dis... ORPHA:199299
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Nephrocalcinosis, Aminoaciduria OMIM:616084
Secondary Short Bowel Syndrome
Constipation, Central hypothyroidism, Steatorrhea, Weight loss, Diarrhea, Failure to thrive, Prim... ORPHA:95427
Histidinemia
Histidinuria, Hyperhistidinemia OMIM:235800
Eosinophilic Granulomatosis With Polyangiitis
Hematuria, Dysphagia, Gastroesophageal reflux, Weight loss, Glomerulopathy, Tubulointerstitial ne... ORPHA:183
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Homocystinuria, Methylmalonic aciduria OMIM:277410
Ataxia-Telangiectasia
Hypopigmentation of hair, Multiple cafe-au-lait spots, Premature graying of hair ORPHA:100
Isolated Succinate-Coq Reductase Deficiency
Vesicoureteral reflux, Knee flexion contracture, Weight loss ORPHA:3208
Aromatase Deficiency
Insulin resistance, Hypergonadotropic hypogonadism, Type II diabetes mellitus, Eunuchoid habitus,... ORPHA:91
Neuroendocrine Tumor Of The Colon
Atypical pulmonary carcinoid tumor, Carcinoid tumor, Weight loss, Melena, Protracted diarrhea, In... ORPHA:100080
Neuroendocrine Tumor Of The Rectum
Hematochezia, Atypical pulmonary carcinoid tumor, Constipation, Carcinoid tumor, Weight loss, Mel... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hematochezia, Atypical pulmonary carcinoid tumor, Constipation, Carcinoid tumor, Weight loss, Mel... ORPHA:100082
Ménétrier Disease
Gastrointestinal hemorrhage, Nausea, Gastroesophageal reflux, Weight loss, Giant hypertrophic gas... ORPHA:2494
Familial Gestational Hyperthyroidism
Goiter, Weight loss, Activating thyroid-stimulating hormone receptor defect, Diarrhea, Thyrotoxic... ORPHA:99819
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Hypoglycemia, Increased urine alpha-ketoglutarate concentration, Dicarboxylic aciduria, 3-hydroxy... OMIM:619355
Thymic Carcinoma
Neoplasm of the thymus, Weight loss ORPHA:99868
Paget Disease Of Bone 2, Early-Onset
Hydroxyprolinuria OMIM:602080
Methylmalonic Aciduria, Cblb Type
Vomiting, Ketonuria, Methylmalonic aciduria, Failure to thrive OMIM:251110
Primary Hyperoxaluria
Calcium oxalate nephrolithiasis, Hematuria, Elevated urine glycolate, Hyperoxaluria, Hypercalciur... ORPHA:416
Orotic Aciduria
Oroticaciduria, Hematuria, Failure to thrive, Orotic acid crystalluria OMIM:258900
Perry Syndrome
Weight loss ORPHA:178509
Cidec-Related Familial Partial Lipodystrophy
Decreased serum leptin, Lipodystrophy, Insulin-resistant diabetes mellitus, Loss of gluteal subcu... ORPHA:435651
Drug Rash With Eosinophilia And Systemic Symptoms
Thyroiditis, Weight loss, Tubulointerstitial nephritis, Nephrotic syndrome, Renal insufficiency ORPHA:139402
Ring Chromosome 10 Syndrome
Renal hypoplasia/aplasia, Cachexia ORPHA:1438
Anaplastic Thyroid Carcinoma
Anaplastic thyroid carcinoma, Goiter, Dysphagia, Weight loss, Nodular goiter ORPHA:142
D-Lactic Aciduria With Gout
Lacticaciduria, Inguinal hernia OMIM:245450
Pfapa Syndrome
Weight loss ORPHA:42642
Allergic Bronchopulmonary Aspergillosis
Weight loss ORPHA:1164
Ppoma
Intestinal carcinoid, Subcutaneous lipoma, Elevated circulating growth hormone concentration, Inc... ORPHA:97278
Waardenburg Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, Heteroch... ORPHA:3440
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Generalized aminoaciduria, Achilles tendon contracture, Corneal scarring, Chronic constipation, S... ORPHA:404454
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Impaired glucose tolerance, Increased adipose tissue around the neck, Flexion c... OMIM:248370
Bronchial Neuroendocrine Tumor
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Increase... ORPHA:97287
Pemphigus Vulgaris
Atypical scarring of skin, Weight loss ORPHA:704
Pelizaeus-Merzbacher Disease
Bowel incontinence, Abnormality of the urinary system, Cachexia, Failure to thrive in infancy ORPHA:702
Polymyositis
Abnormal renal tubule morphology, Gastrointestinal hemorrhage, Chondrocalcinosis, Constipation, G... ORPHA:732
Benign Recurrent Intrahepatic Cholestasis
Chronic diarrhea, Weight loss ORPHA:65682
Vipoma
Subcutaneous lipoma, Elevated circulating growth hormone concentration, Increased circulating cor... ORPHA:97282
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Ketonuria, Hypoglycemia OMIM:615751
Immunodeficiency 27A
Diarrhea, Weight loss OMIM:209950
Neuropathy, Congenital Hypomyelinating, 3
Arthrogryposis multiplex congenita, Flexion contracture, Gastroesophageal reflux, Cachexia, Limb ... OMIM:618186
Igg4-Related Kidney Disease
Ureteral obstruction, Hematuria, Acute kidney injury, Albuminuria, Enlarged kidney, Abnormal uret... ORPHA:449395
Igg4-Related Aortitis
Intestinal obstruction, Hydronephrosis, Weight loss ORPHA:449400
Marbach-Rustad Progeroid Syndrome
Reduced subcutaneous adipose tissue, Insulin resistance OMIM:619322
Methylmalonic Aciduria, Cbla Type
Vomiting, Ketonuria, Methylmalonic aciduria, Failure to thrive OMIM:251100
Glucagonoma
Subcutaneous lipoma, Elevated circulating growth hormone concentration, Increased circulating cor... ORPHA:97280
Mandibuloacral Dysplasia With Type B Lipodystrophy
Delayed puberty, Generalized lipodystrophy, Insulin resistance ORPHA:90154
Eosinophilic Gastroenteritis
Hematochezia, Dysphagia, Steatorrhea, Weight loss, Diarrhea, Vomiting ORPHA:2070
3-Hydroxy-3-Methylglutaric Aciduria
3-Methylglutaric aciduria, Recurrent hypoglycemia, Nonketotic hypoglycemia, Weight loss, Episodic... ORPHA:20
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Dysphagia, Weight loss, Paraganglioma, Intestinal obstruction ORPHA:97286
Muenke Syndrome
Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches ORPHA:53271
Xeroderma Pigmentosum
Hypogonadism, Aminoaciduria, Failure to thrive ORPHA:910
Huntington Disease
Decreased body mass index, Weight loss, Oral-pharyngeal dysphagia ORPHA:399
Mcdonough Syndrome
Cachexia ORPHA:2471
Celiac Disease, Susceptibility To, 1
Enamel hypoplasia, Thyroiditis, Stomatitis, Steatorrhea, Weight loss, Delayed puberty, Diarrhea, ... OMIM:212750
Thyrotoxic Periodic Paralysis
Thyrotoxicosis with toxic multinodular goiter, Graves disease, Postprandial hyperglycemia, Consti... ORPHA:79102
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Homocystinuria, Failure to thrive ORPHA:395