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
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Homozygous 11P15-P14 Deletion Syndrome
Generalized aminoaciduria, Vomiting, Diarrhea, Failure to thrive, Hypoglycemia, Hyperinsulinemia,... OMIM:606528
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Griscelli Syndrome, Type 1
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large... OMIM:214450
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Tietz Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen... ORPHA:42665
Uncombable Hair Syndrome
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Transient Neonatal Diabetes Mellitus
Abnormality of the urinary system, Maturity-onset diabetes of the young, Failure to thrive, Umbil... ORPHA:99886
Dibasic Amino Aciduria I
Ornithinuria, Hyperlysinuria, Dibasicaminoaciduria, Argininuria OMIM:222690
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Saccharopinuria
Saccharopinuria, Histidinuria, Hyperlysinuria, Elevated urinary saccharopine level, Citrullinuria OMIM:268700
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Decreased serum insulin-like growth factor 1, Delayed puberty, Truncal obesity ORPHA:140941
Type 2 Diabetes Mellitus
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus OMIM:125853
Dicarboxylic Aminoaciduria
Aminoaciduria, Aspartic aciduria, Fasting hypoglycemia, Nephrolithiasis OMIM:222730
Valinemia
Vomiting, Failure to thrive, Valinuria OMIM:277100
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Aminoaciduria, Failure to thrive ORPHA:2278
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk... ORPHA:411593
Hyperprolinemia, Type Ii
Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Elevated urinary pyrroline hydroxycarboxylic acid... OMIM:239510
Cystinuria
Hyperlysinuria, Recurrent urinary tract infections, Renal insufficiency, Nephrolithiasis, Cystinu... OMIM:220100
Galactosemia Iii
Aminoaciduria, Galactosuria, Vomiting, Failure to thrive OMIM:230350
Iminoglycinuria
Hyperglycinuria, Prolinuria, Hydroxyprolinuria OMIM:242600
Iminoglycinuria
Hyperglycinuria, Prolinuria, Hydroxyprolinuria ORPHA:42062
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Prolinuria ORPHA:419
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... OMIM:308990
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Fasting hypoglycemia, Truncal obesity, Hypoinsu... OMIM:240900
Camptodactyly-Taurinuria Syndrome
Camptodactyly of toe, Increased urinary taurine, Aminoaciduria, Camptodactyly of finger ORPHA:1325
Stimmler Syndrome
Abnormal dental enamel morphology, Type II diabetes mellitus, Aminoaciduria ORPHA:3199
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Aminoaciduria, Proximal tubulopathy, Diarrhea, Failure to thrive, Vomiting, Cachexia, Weight loss OMIM:612075
Cerebral Creatine Deficiency Syndrome 3
Organic aciduria, Failure to thrive OMIM:612718
5-Oxoprolinase Deficiency
Diarrhea, Vomiting, Prolinuria, Enterocolitis, Calcium oxalate nephrolithiasis, Increased level o... OMIM:260005
Galactose Epimerase Deficiency
Aminoaciduria, Weight loss ORPHA:79238
3-Hydroxyisobutyric Aciduria
Aminoaciduria, Failure to thrive OMIM:236795
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Lysine Malabsorption Syndrome
Renal tubular lysine transport defect, Hyperlysinuria OMIM:247950
Mody
Nephropathy, Abnormal circulating insulin concentration, Glycosuria, Insulin-resistant diabetes m... ORPHA:552
Tremor Of Intention, Ataxia, And Lipofuscinosis
Premature graying of hair OMIM:190200
Multiple Symmetric Lipomatosis
Insulin resistance, Multiple lipomas, Abnormal adipose tissue morphology ORPHA:2398
Waardenburg Syndrome, Type 2B
Heterochromia iridis, White forelock, Premature graying of hair OMIM:600193
Camptodactyly 1
Increased urinary taurine, Camptodactyly of finger OMIM:114200
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi... OMIM:619947
Hydroxykynureninuria
Elevated urinary 3-hydroxykynurenine level, Vomiting, Elevated urinary xanthurenic acid level OMIM:236800
Acquired Partial Lipodystrophy
Insulin resistance, Proteinuria, Glomerulopathy, Microscopic hematuria, Lipoatrophy ORPHA:79087
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
Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality... ORPHA:170
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria, Abnormal circulating calcium-phosphate regulating hormone concentration, Abnormali... ORPHA:417
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Aminoaciduria ORPHA:79156
Threoninemia
Hyperthreoninuria OMIM:273770
Ichthyosis, Split Hairs, And Amino Aciduria
Aminoaciduria OMIM:242550
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Alaninuria, Hypoglycemia OMIM:615158
Carnosinemia
Carnosinuria OMIM:212200
Diaminopentanuria
Hyperlysinuria, Cystinuria OMIM:222350
Hydroxylysinuria
Hyperlysinuria OMIM:236900
Carnosinase Deficiency
Carnosinuria ORPHA:1361
Hidrotic Ectodermal Dysplasia
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Sparse eyebrow, Fine ... ORPHA:189
Indolylacroyl Glycinuria With Impaired Intellectual Development
Hyperglycinuria OMIM:243050
Phosphohydroxylysinuria
Phosphohydroxylysinuria OMIM:615011
Cystathioninuria
Cystathioninuria OMIM:219500
Beta-Aminoisobutyric Aciduria
Beta-aminoisobutyric aciduria OMIM:210100
Hyperprolinemia, Type I
Hyperglycinuria, Prolinuria, Hydroxyprolinuria OMIM:239500
2P21 Microdeletion Syndrome
Failure to thrive, Hypoglycemia, Hypogonadism, Nephrolithiasis, Cystinuria ORPHA:163693
White Forelock With Malformations
White forelock, Poliosis OMIM:277740
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... OMIM:613265
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity, Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (T... OMIM:614662
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria
2-hydroxyadipic aciduria, Alpha-aminoadipic aciduria OMIM:204750
Ermine Phenotype
Spotty hyperpigmentation, White hair, Vitiligo, White eyebrow, White eyelashes, Abnormal iris pig... OMIM:227010
Hyperglycinuria
Calcium oxalate nephrolithiasis, Hyperglycinuria OMIM:138500
Dent Disease 2
Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Umbilical hernia, ... OMIM:300555
Hypercalcemia, Infantile, 1
Nephrocalcinosis, Vomiting, Failure to thrive, Medullary nephrocalcinosis, Nephrolithiasis, Hyper... OMIM:143880
Homocarnosinosis
Carnosinuria OMIM:236130
Cystinosis
Nephropathy, Aminoaciduria, Type I diabetes mellitus, Vomiting, Failure to thrive, Renal insuffic... ORPHA:213
Galactosemia I
Aminoaciduria, Galactosuria, Diarrhea, Vomiting, Failure to thrive, Increased level of galactitol... OMIM:230400
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Elevated circulating creatinine conc... OMIM:615605
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction OMIM:612227
Griscelli Syndrome, Type 2
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:607624
Hypertryptophanemia
Increased serum serotonin, Tryptophanuria, Camptodactyly of finger OMIM:600627
Glutamate Formiminotransferase Deficiency
Aminoaciduria, Elevated urinary formiminoglutamic acid level OMIM:229100
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Aminoaciduria, Renal hypoplasia, Failure to thrive, 3-Methylglutaconic aciduria, Lacticaciduria, ... OMIM:604273
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Nephropathy, Aminoaciduria, Nephrocalcinosis, Glycosuria, Failure to thrive, Renal tubular acidos... OMIM:613404
Aids Wasting Syndrome
Cachexia, Weight loss, Abnormal gonadotropin-releasing hormone concentration ORPHA:90081
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Hypoglycemia, Adrenal insufficiency, Renal insufficiency, Lacticaciduria OMIM:619386
Woolly Hair, Autosomal Recessive 3
Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Curly hair, Sparse hair, Sparse scalp hair OMIM:616760
Alpha-Methylacetoacetic Aciduria
Vomiting, Elevated urinary 2-methyl-3-hydroxybutyric acid level OMIM:203750
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Nephrocalcinosis, Glycosuria, Hypoglycemia, Large for gestational age, Hyperphosph... OMIM:616026
Hartnup Disorder
Elevated urinary indoleacetic acid level, Neutral hyperaminoaciduria OMIM:234500
Mercaptolactate-Cysteine Disulfiduria
Aminoaciduria OMIM:249650
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity
Homocystinuria OMIM:236250
Hypotonia-Cystinuria Syndrome
Cystinuria, Failure to thrive, Nephrolithiasis ORPHA:163690
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Proprotein Convertase 1/3 Deficiency
Diarrhea, Elevated circulating proinsulin concentration, Obesity, Reactive hypoglycemia, Hypogona... OMIM:600955
Waardenburg Syndrome, Type 2A
Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc... OMIM:193510
Gracile Syndrome
Aminoaciduria OMIM:603358
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Fanconi Renotubular Syndrome 1
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur... OMIM:134600
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hypoglycemia ORPHA:664
Laryngeal Neuroendocrine Tumor
Increased serum serotonin, Neuroendocrine neoplasm, Oral-pharyngeal dysphagia, Adrenocorticotropi... ORPHA:100083
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Obesity, Type II diabetes mellitus OMIM:615703
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Diabetes mellitus, Lipoatrophy ORPHA:79084
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin OMIM:257800
Fanconi Renotubular Syndrome 2
Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Elevated circulating pa... OMIM:613388
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Homocystinuria, Methylmalonic aciduria, Failure to thrive OMIM:309541
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Aminoaciduria OMIM:204730
Uncombable Hair Syndrome 3
Pili canaliculi, Brittle hair, Uncombable hair, Curly hair OMIM:617252
Hypotrichosis 8
Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ... OMIM:278150
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation, Hypospadias ORPHA:1355
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Aminoaciduria, Cachexia, Methylmalonic aciduria ORPHA:1933
Pulmonary Blastoma
Weight loss ORPHA:64741
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Abno... ORPHA:895
Glucoglycinuria
Hyperglycinuria, Glycosuria OMIM:138070
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Nephropathy, Generalized aminoaciduria, Nephrocalcinosis, Glycosuria,... ORPHA:2088
Methionine Malabsorption Syndrome
Aminoaciduria, Diarrhea OMIM:250900
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To
Increased level of L-pyroglutamic acid in urine OMIM:231900
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp... OMIM:203200
Idiopathic Achalasia
Weight loss, Dysphagia, Gastroesophageal reflux ORPHA:930
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, Tubulointerstitial fibrosis OMIM:618913
Cystathioninuria
Cystathioninuria, Nephrolithiasis ORPHA:212
Hyperlysinuria With Hyperammonemia
Hyperlysinuria, Dibasicaminoaciduria OMIM:238750
Attrv30M Amyloidosis
Nephropathy, Diarrhea, Constipation, Weight loss, Abnormal renal physiology ORPHA:85447
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Lipodystrophy, Lipoatrophy, Insulin-resistant diabetes mellitus OMIM:613877
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Carbamoyl-Phosphate Synthetase 1 Deficiency
Aminoaciduria ORPHA:147
Dent Disease 1
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo... OMIM:300009
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent... ORPHA:79433
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Ketonuria, Glycosuria, Hyperglycemia, Small for gestational age OMIM:618857
3-Methylcrotonyl-Coa Carboxylase Deficiency
Failure to thrive in infancy, Organic aciduria, Hypoglycemia ORPHA:6
Tyrosinemia Type 1
Generalized aminoaciduria ORPHA:882
Elejalde Neuroectodermal Melanolysosomal Syndrome
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:256710
Woolly Hair Nevus
Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Curl... ORPHA:79414
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
Hyperlysinemia, Type I
Hyperlysinuria, Cystinuria, Ornithinuria, Argininuria, Homocitrullinuria OMIM:238700
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Aminoaciduria, Vomiting, Glycosuria, Failure to thrive, Hyperphosphaturia, Renal tubular dysfunct... ORPHA:436271
Piebald Trait-Neurologic Defects Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochrom... ORPHA:2885
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Increased serum leptin, Hyperinsulinemia, Obesity OMIM:617885
Albinism, Oculocutaneous, Type Vi
Fair hair, Generalized hypopigmentation OMIM:113750
Uncombable Hair Syndrome 1
Dry hair, Pili canaliculi, Uncombable hair OMIM:191480
Yemenite Deaf-Blind Hypopigmentation Syndrome
White forelock, Numerous pigmented freckles, Patchy hypo- and hyperpigmentation OMIM:601706
Histidinuria-Renal Tubular Defect Syndrome
Histidinuria, Impaired histidine renal tubular absorption, Hypoglycemia ORPHA:2158
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Generalized lipodystrophy, Reduced subcutaneous adipose tissue, Lipodystrophy... OMIM:612526
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Chronic kidney disease, Generalized aminoaciduria, Glycosuria, Hypoglyce... ORPHA:3337
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Lipodystrophy, Diabetes mellitus, Abdominal obesity OMIM:615980
Dent Disease
Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerulosclerosis, Aminoaciduri... ORPHA:1652
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Generalized aminoaciduria, Ketonuria, Glycosuria, Beta 2-microglobuli... OMIM:227810
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Aminoaciduria, Failure to thrive OMIM:250620
Lipe-Related Familial Partial Lipodystrophy
Insulin resistance, Decreased adiponectin level, Increased adipose tissue around the neck, Insuli... ORPHA:435660
Encephalopathy Due To Sulfite Oxidase Deficiency
Aminoaciduria ORPHA:833
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:2786
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Increased i... ORPHA:79085
Severe Canavan Disease
Vomiting, Gastroesophageal reflux, Elevated urine N-acetylaspartic acid level, Oral-pharyngeal dy... ORPHA:314911
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Aminoaciduria, Ketonuria, Failure to thrive, Umbilical hernia, Large for gestational age OMIM:614520
Glutamate-Cysteine Ligase Deficiency
Aminoaciduria ORPHA:33574
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Nephropathy, Aminoaciduria, Nephrocalcinosis, Failure to thrive, Reduced renal corticomedullary d... OMIM:208085
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate
Increased urine alpha-ketoglutarate concentration, Elevated urine N-acetylaspartic acid level, In... OMIM:618384
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4
Premature graying of hair OMIM:616371
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria, Weight loss ORPHA:100024
Thiamine-Responsive Megaloblastic Anemia Syndrome
Aminoaciduria, Gastroesophageal reflux, Diabetes mellitus OMIM:249270
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Hyperparathyroidism, Neonatal Severe
Aminoaciduria, Elevated circulating parathyroid hormone level, Failure to thrive, Hyperphosphatur... OMIM:239200
Muscular Dystrophy, Cardiac Type
Carnosinuria OMIM:309930
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopathy, Vomiting, G... ORPHA:411634
Hypotonia-Cystinuria Syndrome
Cystine crystalluria, Failure to thrive, Decreased response to growth hormone stimulation test, N... OMIM:606407
Proximal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Diarrhea, Vomiting, Glycosuria, Hypernatriuria, Failure to thriv... ORPHA:47159
Distal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Diarrhea, Failure to thrive, Vomiting, Low... ORPHA:18
Saccharopinuria
Hyperlysinuria, Cystinuria, Citrullinuria ORPHA:3124
Argininemia
Diaminoaciduria ORPHA:90
Glutathionuria
Urinary incontinence, Constipation, Glutathionuria OMIM:231950
Glutathione Synthetase Deficiency
Increased level of L-pyroglutamic acid in urine OMIM:266130
Hsd10 Disease
Elevated urinary 3-hydroxybutyric acid, Dysphagia, Abnormal urinary acylglycine profile ORPHA:391417
Solitary Fibrous Tumor
Urinary retention, Hypoglycemia, Recurrent hypoglycemia, Weight loss, Constipation, Hypoinsulinemia ORPHA:2126
Osteogenesis Imperfecta, Type Xxiii
Insulin resistance, Truncal obesity OMIM:620639
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Ketonuria, Glycosuria, Failure to thrive, Ketotic hypoglycemia ORPHA:2089
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Homocystinuria, Methylmalonic aciduria, Failure to thrive OMIM:236270
Infantile Nephropathic Cystinosis
Aminoaciduria, Vomiting, Glycosuria, Failure to thrive, Low-molecular-weight proteinuria, Abnorma... ORPHA:411629
Intestinal Dysmotility Syndrome
Diarrhea, Weight loss, Failure to thrive, Projectile vomiting OMIM:620045
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Aminoaciduria OMIM:609560
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Aminoaciduria, Glycosuria, Failure to thrive, Hyperphosphaturia, Renal tubular dysfunction, Prote... OMIM:220110
Central Diabetes Insipidus
Diarrhea, Failure to thrive, Weight loss, Nocturia, Diabetes insipidus ORPHA:178029
Waardenburg Syndrome, Type 4A
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... OMIM:277580
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Aminoaciduria, Gastroesophageal reflux, Methylmalonic aciduria, Failure to thrive, Small for gest... OMIM:612073
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Vomiting, Glycosuria, Hypogly... OMIM:231680
Phenylketonuria
Phenylalaninuria ORPHA:716
Lipoyltransferase 1 Deficiency
Alaninuria, Hyperglutaminuria, Lacticaciduria OMIM:616299
Adrenocortical Carcinoma
Increased circulating cortisol level, Increased urinary cortisol level, Hyperaldosteronism, Incre... ORPHA:1501
Sulfite Oxidase Deficiency, Isolated
Sulfocysteinuria, Episodic vomiting, Decreased urinary sulfate, Increased urinary sulfite level OMIM:272300
Phenylketonuria
Elevated urinary gamma-glutamylphenylalanine level, Increased level of hippuric acid in urine, El... OMIM:261600
Glycine Encephalopathy 1
Hyperglycinuria OMIM:605899
Diencephalic Syndrome
Cachexia, Long penis, Abnormality of the hypothalamus-pituitary axis, Decreased body weight ORPHA:1672
D-Glyceric Aciduria
Aminoaciduria, Gastroesophageal reflux, Failure to thrive, Hypoglycemia, Micropenis OMIM:220120
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin resistance, Elevated circulating growth hormone concentration, Enlarged kidney, Insulin-r... ORPHA:90301
Hawkinsinuria
Hypothyroidism, 4-Hydroxyphenylpyruvic aciduria, 4-hydroxyphenylacetic aciduria, Failure to thrive ORPHA:2118
Piebald Trait
Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,... OMIM:172800
Obesity And Hypopigmentation
Red hair OMIM:620195
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hyperglycinuria, Vomiting, Hypoglycemia, Medium chain dicarboxylic aciduria, Elevated urinary 7-h... OMIM:201450
Mandibuloacral Dysplasia
Insulin resistance, Increased subcutaneous truncal adipose tissue, Contractures of the large join... ORPHA:2457
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Generalized lipodystrophy, Hyperinsulinemia, Reduced subcutaneous adipose tis... ORPHA:363400
Combined Oxidative Phosphorylation Deficiency 36
Aciduria, Failure to thrive, Hypoglycemia OMIM:617950
Waardenburg-Shah Syndrome
Premature graying of hair, Abnormal eyebrow morphology, White forelock, Abnormality of retinal pi... ORPHA:897
Cerebrooculofacioskeletal Syndrome 1
Insulin resistance, Joint contracture of the hand, Failure to thrive, Elbow flexion contracture, ... OMIM:214150
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Hypopigmentation of the skin, Generalized hyperpigmentation, Premature ... ORPHA:33445
Succinic Semialdehyde Dehydrogenase Deficiency
Elevated urinary 4-hydroxybutyric acid, Increased level of gamma-aminobutyric acid in urine OMIM:271980
Methylmalonyl-Coa Epimerase Deficiency
Gastroesophageal reflux, Ketonuria, Methylmalonic aciduria, Failure to thrive OMIM:251120
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Hyperprolinemia Type 2
Increased urine alpha-ketoglutarate concentration, Diarrhea, Prolinuria, Hydroxyprolinuria, Renal... ORPHA:79101
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Hypoglycemia, Decreased serum testosterone concentration, Type II diabete... ORPHA:453533
Glucose-Galactose Malabsorption
Vomiting, Diarrhea, Failure to thrive, Renal insufficiency, Nephrolithiasis, Hematuria, Osmotic d... ORPHA:35710
Congenital Generalized Lipodystrophy
Insulin resistance, Precocious puberty in females, Failure to thrive, Hyperinsulinemia, Adipose t... ORPHA:528
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct... OMIM:266600
Neuroblastoma, Susceptibility To, 1
Elevated urinary dopamine level, Diarrhea, Elevated urinary homovanillic acid, Failure to thrive,... OMIM:256700
Cystinosis, Nephropathic
Hematuria, Weight loss, Dysphagia, Aminoaciduria, Generalized aminoaciduria, Male hypogonadism, F... OMIM:219800
Familial Glucocorticoid Deficiency
Precocious puberty, Abnormal circulating adrenocorticotropin concentration, Diarrhea, Vomiting, H... ORPHA:361
Sarcosinemia
Hypersarcosinuria ORPHA:3129
Hereditary Central Diabetes Insipidus
Diarrhea, Vomiting, Weight loss, Diabetes insipidus ORPHA:30925
Placental Insufficiency
Insulin resistance, Small for gestational age ORPHA:439167
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Homocystinuria, Vomiting, Diarrhea, Methylmalonic aciduria, Failure to thrive OMIM:250940
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Vomiting, Ketonuria, Failure to thrive, Elevated urinary 3-methylcrotonylglycine level, Hypoglyce... OMIM:210200
Silver-Russell Syndrome
Insulin resistance, Premature adrenarche, Precocious puberty, Abnormality of the urinary system, ... ORPHA:813
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Hyperglycinuria, Vomiting, Ketonuria, Failure to thrive, Organic aciduria, Hypoglycemia OMIM:210210
Short Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Abse... OMIM:269880
Familial Expansile Osteolysis
Hydroxyprolinuria OMIM:174810
Vogt-Koyanagi-Harada Disease
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Vitiligo, Abn... ORPHA:3437
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ... ORPHA:79435
Propionic Acidemia
Hyperglycinuria, Vomiting, Failure to thrive, Increased level of hippuric acid in urine, Hypoglyc... OMIM:606054
Familial Partial Lipodystrophy, Dunnigan Type
Insulin resistance, Cellulitis, Glomerulopathy, Lipodystrophy, Loss of subcutaneous adipose tissu... ORPHA:2348
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Failure to thrive, Episodic vomiting, Homocitrullinuria OMIM:238970
Piebaldism
Hypopigmented skin patches, White forelock, Heterochromia iridis, White eyebrow, White eyelashes,... ORPHA:2884
Inflammatory Pseudotumor Of The Liver
Nausea, Vomiting, Weight loss, Diabetes mellitus ORPHA:90003
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Albinism-Deafness Syndrome
Albinism, Patchy hypo- and hyperpigmentation, Piebald skin depigmentation, Ocular albinism OMIM:300700
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Precocious puberty, Long penis, Insulin-resistant diabetes mellitus, ... OMIM:262190
Pseudomyxoma Peritonei
Inflammation of the large intestine, Intestinal obstruction, Hernia, Weight loss, Constipation ORPHA:26790
Non-Functioning Paraganglioma
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Weight loss, P... ORPHA:94080
Dermotrichic Syndrome
Aminoaciduria ORPHA:99688
Sialidosis Type 1
Hernia, Increased urinary O-linked sialopeptides, Urinary excretion of sialylated oligosaccharide... ORPHA:812
Myasthenic Syndrome, Congenital, 22
Decreased response to growth hormone stimulation test, Cystinuria OMIM:616224
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Gastrointestinal hemorrhage, Diarrhea, Gastroesophageal reflux, Abnormal urinary ele... ORPHA:85450
Propionic Acidemia
Constipation, Organic aciduria, Hypoglycemia ORPHA:35
Acquired Central Diabetes Insipidus
Weight loss, Pollakisuria, Diabetes insipidus ORPHA:95626
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Aminoaciduria, Failure to thrive, Hypoglycemia, Neonatal hypoglycemia, Small for gestational age OMIM:619055
Histidinuria Due To A Renal Tubular Defect
Histidinuria, Impaired histidine renal tubular absorption OMIM:235830
Albinism-Deafness Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Partial albinism, Heterochromia iridis, ... ORPHA:998
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Proximal tubulopathy, Transient aminoaciduria, Glycosuria, Hypoglyce... OMIM:229600
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia, Ketonuria OMIM:616095
Huntington Disease-Like 2
Weight loss ORPHA:98934
Lipodystrophy, Familial Partial, Type 1
Increased subcutaneous truncal adipose tissue, Insulin-resistant diabetes mellitus, Increased fac... OMIM:608600
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Failure to thrive, Hypoglycemia, Hypogonadism, Truncal obesity, Small for ges... ORPHA:73272
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Homocystinuria, Gastroesophageal reflux, Methylmalonic aciduria, Failure to thrive, Inguinal hernia OMIM:614857
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Proteinuria OMIM:603585
Short Syndrome
Insulin resistance, Abnormal dental enamel morphology, Inguinal hernia, Lipodystrophy, Weight los... ORPHA:3163
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Elevated urinary dopamine level, Diarrhea, Vomiting, Hypoglycemia, Elevated c... ORPHA:230
Inflammatory Bowel Disease 11
Diarrhea, Hematochezia, Inflammation of the large intestine, Weight loss OMIM:191390
Multiple Mitochondrial Dysfunctions Syndrome 1
Increased urine alpha-ketoglutarate concentration, Hyperglycinuria, Alpha-aminoadipic aciduria, F... OMIM:605711
Thymic Neuroendocrine Tumor
Calcium nephrolithiasis, Pituitary adenoma, Increased circulating cortisol level, Pituitary prola... ORPHA:97289
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Insulin resistance, Male hypogonadism, Lipodystrophy, Loss of subcutaneous adipose tissue in limb... OMIM:615381
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Elevated urinary 3-hydroxyisobutyric acid level, Elevated urinary 3-hydroxybutyric acid, Methylma... OMIM:614105
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Moderate albuminuria, Ketonuria, Glycosuria, Failur... ORPHA:99885
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Weight loss, Dysphagia, Gastroesophageal reflux ORPHA:2198
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Type I diabetes mellitus, Reduced subcutaneous adipose tissue, Cachexia, Lipodystrophy, Weight lo... ORPHA:1979
Acquired Generalized Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Generalized lipodystrophy, Hyperinsuline... ORPHA:79086
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Joint contracture of the hand, Failure to thrive, Hypoplasia of the thymus, Campto... OMIM:214110
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Diarrhea, Vomiting, Hypoglycemia, Dicarboxylic aciduria, ... ORPHA:42
Chronic Hiccup
Weight loss ORPHA:396
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss, Constipation OMIM:613662
Glutaric Acidemia Type 3
Glutaric aciduria, Ketonuria, Failure to thrive ORPHA:35706
Dimethylglycine Dehydrogenase Deficiency
Elevated urinary N,N-dimethylglycine level OMIM:605850
Griscelli Syndrome Type 1
Iris hypopigmentation, Partial albinism, White hair, Premature graying of hair ORPHA:79476
Glutaric Aciduria Iii
Glutaric aciduria, Diarrhea, Vomiting, Failure to thrive, Goiter, Hyperthyroidism OMIM:231690
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Aminoaciduria, Hypogonadism OMIM:273400
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Fumarase Deficiency
Aminoaciduria, Elevated urine fumaric acid level, Failure to thrive, Reduced subcutaneous adipose... OMIM:606812
Bruck Syndrome 2
Hydroxyprolinuria, Elbow flexion contracture, Inguinal hernia, Knee flexion contracture, Flexion ... OMIM:609220
Isovaleric Acidemia
Hyperglycinuria, Vomiting, Elevated urinary isovalerylglycine level OMIM:243500
Hirschsprung Disease
Diarrhea, Failure to thrive in infancy, Neoplasm of the thyroid gland, Intestinal obstruction, We... ORPHA:388
Leber Congenital Amaurosis 1
Hyperthreoninuria OMIM:204000
Waardenburg Syndrome Type 1
Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Thic... ORPHA:894
Zollinger-Ellison Syndrome
Diarrhea, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urina... ORPHA:913
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Generalized aminoaciduria, Elevated circulating parathyroid hormone level, Failure to thrive, Ena... OMIM:264700
Multiple Mitochondrial Dysfunctions Syndrome 3
Beta-aminoisobutyric aciduria, Arthrogryposis multiplex congenita OMIM:615330
Pparg-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Loss of facial adipose tissue, Loss of s... ORPHA:79083
Isaacs Syndrome
Weight loss ORPHA:84142
2,4-Dienoyl-Coa Reductase Deficiency
Hyperlysinuria, Failure to thrive OMIM:616034
Leigh Syndrome
Generalized aminoaciduria, Methylmalonic aciduria, Hypoglycemia, Failure to thrive, Multiple join... ORPHA:506
Gitelman Syndrome
Diarrhea, Type II diabetes mellitus, Parathyroid adenoma, Urinary incontinence, Tubulointerstitia... ORPHA:358
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Graves Disease
Graves disease, Goiter, Increased circulating free T3, Weight loss, Increased circulating free T4... OMIM:275000
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Insulin resistance, Premature adrenarche, Precocious puberty, Small for gestational age, Gastroes... ORPHA:96182
Lysinuric Protein Intolerance
Aminoaciduria, Hyperlysinuria, Diarrhea, Vomiting, Failure to thrive, Oroticaciduria, Stage 5 chr... OMIM:222700
Werner Syndrome
Insulin resistance, Chondrocalcinosis, Hypogonadism, Slender build, Thyroid carcinoma, Type II di... ORPHA:902
Hereditary Orotic Aciduria
Aminoaciduria, Abnormality of the ureter, Oroticaciduria, Orotic acid crystalluria ORPHA:30
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Goiter, Decreased thyroid-stimulating hormone level, Weight loss, Increased circulating free T4 c... OMIM:613239
Gyrate Atrophy Of Choroid And Retina
Aminoaciduria ORPHA:414
Nephroblastoma
Hematuria, Weight loss, Nephroblastoma ORPHA:654
Spinocerebellar Ataxia 48
Urinary incontinence, Cachexia, Dysphagia OMIM:618093
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Failure to thrive, Hyperinsulinemia, Ileus, Lipodystrophy, Constipation, Flex... OMIM:613327
Aredyld Syndrome
Type I diabetes mellitus, Abnormal dental enamel morphology, Abnormality of the ureter, Type II d... ORPHA:1133
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Nephropathy, Homocystinuria, Acute kidney injury, Vomiting, Methylmalonic aciduria, Cystathioninu... OMIM:277400
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:177910
Reticular Dysgenesis
Diarrhea, Weight loss, Failure to thrive, Aplasia/Hypoplasia of the thymus ORPHA:33355
Hermansky-Pudlak Syndrome 3
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:614072
Molybdenum Cofactor Deficiency, Type A
Increased urinary taurine, Decreased urinary urate, Increased urinary hypoxanthine level, Decreas... OMIM:252150
Mitochondrial Dna Depletion Syndrome 18
Elevated urinary quinolinic acid level, Failure to thrive, Lacticaciduria OMIM:618811
Argininosuccinic Aciduria
Aminoaciduria, Oroticaciduria ORPHA:23
Wild Type Attr Amyloidosis
Nephropathy, Intermittent diarrhea, Renal insufficiency, Proteinuria, Weight loss, Nephrotic synd... ORPHA:330001
Liposarcoma
Weight loss, Abnormality of the kidney ORPHA:69078
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Insulin resistance, Decreased adiponectin level, Increased adipose tissue around the neck, Increa... ORPHA:280365
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Insulin resistance, Nephrocalcinosis, Long penis, Precocious puberty,... ORPHA:769
Sporadic Pheochromocytoma/Secreting Paraganglioma
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, W... ORPHA:276621
Moynahan Syndrome
Hypogonadism, Cachexia ORPHA:2574
Short Stature, Microcephaly, And Endocrine Dysfunction
Insulin resistance, Unilateral renal agenesis, Renal hypoplasia, Inguinal hernia, Hypothyroidism,... OMIM:616541
Leprechaunism
Postprandial hyperglycemia, Insulin resistance, Nephrocalcinosis, Long penis, Central hypothyroid... ORPHA:508
Tenorio Syndrome
Gastroesophageal reflux, Hypoglycemia, Recurrent aphthous stomatitis, Hypoinsulinemia, Enuresis OMIM:616260
Mulibrey Nanism
Cachexia ORPHA:2576
Argininosuccinic Aciduria
Aminoaciduria, Oroticaciduria, Vomiting, Failure to thrive OMIM:207900
Lipodystrophy, Familial Partial, Type 7
Insulin resistance, Type I diabetes mellitus, Diarrhea, Vomiting, Failure to thrive, Glucose into... OMIM:606721
Erythrokeratodermia Variabilis
Weight loss, Diabetes mellitus ORPHA:317
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Generalized aminoaciduria, Vomiting, Failure to thrive, Hypoglycemia OMIM:251880
Tyrosinemia, Type Ii
4-Hydroxyphenylpyruvic aciduria, Elevated urine N-acetyltyrosine level, Hypertyrosinemia OMIM:276600
Rhabdoid Tumor
Hematuria, Weight loss, Renal neoplasm ORPHA:69077
Seckel Syndrome 10
Insulin resistance, Elevated circulating luteinizing hormone level, Glycosuria, Glucose intoleran... OMIM:617253
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Homocystinuria, Failure to thrive, Methylmalonic aciduria, Cystathioninuria, Stomatitis, Small fo... OMIM:277380
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Homocystinuria, Methioninuria, Inguinal hernia, Failure to thrive OMIM:236200
Netherton Syndrome
Aminoaciduria, Hydronephrosis, Ectopic kidney ORPHA:634
Interstitial Lung And Liver Disease
Aminoaciduria, Hypothyroidism, Vomiting, Failure to thrive OMIM:615486
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Proteinuria, Cachexia, Camptodactyly of finger ORPHA:2774
Hereditary Pheochromocytoma-Paraganglioma
Elevated urinary dopamine level, Elevated circulating calcitonin concentration, Elevated urinary ... ORPHA:29072
Medullary Thyroid Carcinoma
Diarrhea, Elevated circulating calcitonin concentration, Pheochromocytoma, Medullary thyroid carc... ORPHA:1332
Hawkinsinuria
Failure to thrive, Hawkinsinuria, 4-Hydroxyphenylpyruvic aciduria, Hypertyrosinemia, 4-hydroxyphe... OMIM:140350
Majeed Syndrome
Failure to thrive, Proteinuria, Cachexia, Glomerulopathy, Weight loss, Flexion contracture, Micro... ORPHA:77297
Acquired Hypertrichosis Lanuginosa
Generalized hirsutism, Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair ORPHA:2221
Cap Polyposis
Atrophic gastritis, Hematochezia, Diarrhea, Constipation, Weight loss ORPHA:160148
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat... ORPHA:79432
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Hypopigmentation of the skin, Melanocytic nevus, Abnormality of retinal pi... ORPHA:79434
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Vomiting, Ketonuria, Failure to thrive, Hypoglycemia, Hyperglycemia OMIM:615453
Paget Disease Of Bone 5, Juvenile-Onset
Failure to thrive, Hydroxyprolinuria, Hypercalciuria, Increased urine deoxypyridinoline level, Ma... OMIM:239000
Systemic Capillary Leak Syndrome
Diarrhea, Oliguria, Renal insufficiency, Weight loss, Abnormal renal tubule morphology ORPHA:188
Lowe Oculocerebrorenal Syndrome
Aminoaciduria, Joint contracture of the hand, Keloids, Failure to thrive, Camptodactyly of finger... OMIM:309000
Peroxisome Biogenesis Disorder 1A (Zellweger)
Aminoaciduria, Failure to thrive, Hydronephrosis, Dysphagia, Adrenal hypoplasia, Albuminuria, Hyp... OMIM:214100
Monosomy 13Q34
Insulin resistance, Hematochezia, Obesity, Fetal pyelectasis ORPHA:96168
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss ORPHA:86893
Oculocutaneous Albinism Type 1
Iris hypopigmentation, Generalized hypopigmentation of hair, White eyebrow, White eyelashes, Gene... ORPHA:352731
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Vomiting, Elevated urinary 3-hydroxybutyric acid, Ketonuria OMIM:245050
Primary Hyperoxaluria Type 3
Nephrocalcinosis, Abnormal renal physiology, Hyperoxaluria, Hematuria, Abnormality of urine homeo... ORPHA:93600
Parathyroid Carcinoma
Nephrocalcinosis, Chondrocalcinosis, Elevated circulating parathyroid hormone level, Renal hamart... ORPHA:143
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Alexander Disease Type I
Cachexia, Vomiting, Dysphagia, Failure to thrive ORPHA:363717
Yao Syndrome
Diarrhea, Weight loss, Xerostomia, Nephrolithiasis OMIM:617321
Acute Adrenal Insufficiency
Diarrhea, Failure to thrive, Hypoglycemia, Androgen insufficiency, Increased circulating ACTH lev... ORPHA:95409
Whipple Disease
Insulin resistance, Gastrointestinal hemorrhage, Diarrhea, Cachexia, Hypothyroidism ORPHA:3452
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Nephropathy, Chronic kidney disease, Gastroesophageal reflux, Vomiting, Failure to thrive, Stage ... ORPHA:1018
Hypocalcemic Vitamin D-Dependent Rickets
Generalized aminoaciduria, Elevated circulating parathyroid hormone level, Failure to thrive, Ena... ORPHA:289157
Oculocerebrorenal Syndrome Of Lowe
Hematuria, Proximal renal tubular acidosis, Aminoaciduria, Atypical scarring of skin, Gastroesoph... ORPHA:534
Diffuse Alveolar Hemorrhage
Hematuria, Elevated circulating creatinine concentration, Weight loss, Proteinuria ORPHA:90060
Holocarboxylase Synthetase Deficiency
Weight loss, Organic aciduria ORPHA:79242
Huntington Disease-Like 2
Weight loss OMIM:606438
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Histidinemia
Histidinuria, Elevated urinary N-tau-ribosylhistidine level, Hyperhistidinemia OMIM:235800
Fatal Familial Insomnia
Weight loss, Dysphagia, Urinary retention, Constipation OMIM:600072
Pleural Mesothelioma
Weight loss, Dysphagia ORPHA:50251
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Diarrhea, Elevated urinary 3-hydroxybutyric acid, Ketonuria, Hypoglycemia, Dicarboxylic aciduria,... OMIM:605911
Tubulointerstitial Nephritis And Uveitis Syndrome
Aminoaciduria, Chorioretinal scar, Sterile pyuria, Beta 2-microglobulinuria, Elevated circulating... ORPHA:91500
Autism, Susceptibility To, 3
Increased serum serotonin, Ketonuria OMIM:608049
Bangstad Syndrome
Primary gonadal insufficiency, Small for gestational age, Insulin-resistant diabetes mellitus, Go... OMIM:210740
Oculopharyngodistal Myopathy
Weight loss, Impaired oropharyngeal swallow response, Oral-pharyngeal dysphagia ORPHA:98897
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:411515
Ermine Phenotype
Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Ocular albinism, ... ORPHA:999
Obesity Due To Prohormone Convertase I Deficiency
Red hair, Hypopigmentation of the skin ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Red hair, Hypopigmentation of the skin ORPHA:71526
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Aminoaciduria, Failure to thrive, Hypoglycemia, Recurrent hypoglycemia, Hyperglycemia, Hypertyros... OMIM:124000
Igg4-Related Retroperitoneal Fibrosis
Acute kidney injury, Elevated circulating creatinine concentration, Unilateral renal hypoplasia, ... ORPHA:49041
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Beta-Ketothiolase Deficiency
Diarrhea, Ketonuria, Vomiting, Hypoglycemia, Hyperglycemia, Weight loss ORPHA:134
Hyperlysinemia
Hyperlysinuria, Gastroesophageal reflux, Vomiting, Failure to thrive, Cystinuria, Dysphagia, Argi... ORPHA:2203
Griscelli Syndrome Type 2
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism, Premature graying of hair ORPHA:79477
Familial Multiple Lipomatosis
Insulin resistance, Lipodystrophy, Increased adipose tissue ORPHA:199276
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Elevated urine acetoacetic acid level, Elevated urine suberic acid level, Elevated urinary 3-hydr... OMIM:615751
Neuroblastoma
Elevated circulating catecholamine level, Elevated urinary homovanillic acid, Elevated urinary va... ORPHA:635
Bullous Pemphigoid
Weight loss, Diabetes mellitus ORPHA:703
Mitochondrial Neurogastrointestinal Encephalomyopathy
Diarrhea, Gastroesophageal reflux, Vomiting, Hypogonadotropic hypogonadism, Cachexia, Weight loss... ORPHA:298
Squalene Synthase Deficiency
Elevated urine mesaconic acid level, Abnormality of hair pigmentation, Elevated urine 3-methyladi... OMIM:618156
Congenital Muscular Dystrophy Due To Lmna Mutation
Flexion contracture, Cachexia ORPHA:157973
Oculocutaneous Albinism Type 1A
Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Freckling, Albinism, Hypopi... ORPHA:79431
Canavan Disease
Elevated urine N-acetylaspartic acid level OMIM:271900
Hartnup Disease
Neutral hyperaminoaciduria, Abnormal urinary color ORPHA:2116
Bardet-Biedl Syndrome 1
Insulin resistance, Hypogonadism, Obesity, Abdominal obesity, Nephrogenic diabetes insipidus, Abn... OMIM:209900
Tryptophanuria With Dwarfism
Tryptophanuria OMIM:276100
Lysinuric Protein Intolerance
Renal fibrosis, Hyperlysinuria, Renal amyloidosis, Diarrhea, Failure to thrive, Vomiting, Orotica... ORPHA:470
Glutaric Acidemia I
Glutaric aciduria, Ketonuria, Failure to thrive, Hypoglycemia OMIM:231670
Peritoneal Cystic Mesothelioma
Peritonitis, Weight loss, Constipation ORPHA:168816
Isolated Succinate-Coq Reductase Deficiency
Weight loss, Vesicoureteral reflux, Knee flexion contracture ORPHA:3208
Bloom Syndrome
Insulin resistance, Gastroesophageal reflux, Recurrent urinary tract infections, Nephroblastoma, ... ORPHA:125
Albinism, Oculocutaneous, Type Ia
White hair, Ocular albinism, Absent skin pigmentation, Blue irides, Albinism, Hypopigmentation of... OMIM:203100
D-Lactic Aciduria With Gout
Elevated urine D-lactate level, Inguinal hernia, Lacticaciduria OMIM:245450
Wilson Disease
Aminoaciduria, Chondrocalcinosis, Vomiting, Glycosuria, Hyperphosphaturia, Renal tubular dysfunct... OMIM:277900
Focal Myositis
Weight loss ORPHA:48918
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Ketonuria, Hypoglycemia, Renal steatosis, Fasting hypoglycemia, Impaired gluconeogenesis OMIM:261680
Renpenning Syndrome
Hypospadias, Cachexia, Diabetes mellitus ORPHA:3242
Bone Dysplasia, Lethal Holmgren Type
Hernia, Diarrhea, Weight loss, Failure to thrive ORPHA:1842
Eosinophilic Fasciitis
Cellulitis, Weight loss, Fasciitis ORPHA:3165
Addison Disease
Thymoma, Type I diabetes mellitus, Diarrhea, Failure to thrive, Hypoglycemia, Androgen insufficie... ORPHA:85138
Hermansky-Pudlak Syndrome 1
Hypopigmentation of the skin, Ocular albinism, Melanocytic nevus, Freckles in sun-exposed areas, ... OMIM:203300
D-Glyceric Aciduria
Hyperglycinuria ORPHA:941
Molybdenum Cofactor Deficiency, Type B
Increased urinary taurine, Decreased urinary urate, Increased urinary hypoxanthine level, Xanthin... OMIM:252160
Al Amyloidosis
Gastrointestinal hemorrhage, Xerostomia, Gastroparesis, Renal insufficiency, Proteinuria, Renal i... ORPHA:85443
Combined Oxidative Phosphorylation Deficiency 14
Aminoaciduria OMIM:614946
Flynn-Aird Syndrome
Cachexia, Primary adrenal insufficiency, Type II diabetes mellitus, Abnormality of the thyroid gland ORPHA:2047
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
3-Methylglutaric aciduria, Glutaric aciduria, Diarrhea, Ketonuria, Increased level of hippuric ac... OMIM:246450
Renal Nutcracker Syndrome
Renal artery stenosis, Hematuria, Proteinuria, Weight loss, Nausea, Microscopic hematuria ORPHA:71273
Congenital Enterocyte Heparan Sulfate Deficiency
Diarrhea, Hematochezia, Weight loss ORPHA:103910
Acrodysostosis 2 With Or Without Hormone Resistance
Fair hair, Red hair, Hypospadias, Blue irides OMIM:614613
Juvenile Huntington Disease
Weight loss ORPHA:248111
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Activating thyroid-stimulating hormone receptor defect, Diarrhea, Thyroid hyperplasia, Goiter, We... ORPHA:424
Follicular Lymphoma
Weight loss ORPHA:545
Malignant Peritoneal Mesothelioma
Peritonitis, Weight loss, Ileus ORPHA:168811
Generalized Pseudohypoaldosteronism Type 1
Vomiting, Failure to thrive in infancy, Abnormal circulating aldosterone, Increased circulating r... ORPHA:171876
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Premature adrenarche, Weight loss, Renal salt wasting, Neonatal hypoglycemia, Abnormal circulatin... ORPHA:90794
Osteootohepatoenteric Syndrome
Secretory diarrhea, Failure to thrive, Grade II vesicoureteral reflux, Proteinuria, Weight loss, ... OMIM:619377
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Renal hypoplasia, Nephrocalcinosis, Gastroesophageal reflux, Renal artery stenosis... OMIM:617913
Polyarteritis Nodosa
Weight loss, Abnormality of the kidney ORPHA:767
Waardenburg Syndrome, Type 4C
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... OMIM:613266
Citrullinemia, Type Ii, Adult-Onset
Argininosuccinic aciduria OMIM:603471
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Diarrhea, Weight loss, Abnormality of the kidney ORPHA:54251
Christianson Syndrome
Cachexia, Gastroesophageal reflux, Arthrogryposis multiplex congenita, Dysphagia ORPHA:85278
Acute Monoblastic/Monocytic Leukemia
Central hypothyroidism, Oliguria, Weight loss ORPHA:514
Neuroendocrine Tumor Of The Colon
Increased serum serotonin, Protracted diarrhea, Atypical pulmonary carcinoid tumor, Weight loss, ... ORPHA:100080
Neuroendocrine Tumor Of The Rectum
Increased serum serotonin, Hematochezia, Protracted diarrhea, Atypical pulmonary carcinoid tumor,... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Increased serum serotonin, Hematochezia, Protracted diarrhea, Atypical pulmonary carcinoid tumor,... ORPHA:100082
Secondary Short Bowel Syndrome
Diarrhea, Vomiting, Failure to thrive, Central hypothyroidism, Primary hypothyroidism, Enterocoli... ORPHA:95427
Methylmalonic Aciduria, Cblb Type
Vomiting, Ketonuria, Failure to thrive, Methylmalonic aciduria, Hypoglycemia OMIM:251110
Simple Cryoglobulinemia
Nephritis, Gastrointestinal hemorrhage, Renal insufficiency, Mesangial hypercellularity, Proteinu... ORPHA:91139
Late-Onset Isolated Acth Deficiency
Type I diabetes mellitus, Diarrhea, Pituitary adenoma, Failure to thrive, Hypoglycemia, Graves di... ORPHA:199299
Riboflavin Transporter Deficiency
Hypogonadism, Cachexia, Diabetes insipidus, Dysphagia ORPHA:97229
Mast Cell Sarcoma
Weight loss ORPHA:66661
Tropical Pancreatitis
Insulin-dependent but ketosis-resistant diabetes, Vomiting, Weight loss, Maternal diabetes, Nausea ORPHA:103918
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of the skin, Hypopigmentation of hair, Reduced renal corticomedullary differenti... OMIM:618541
Aicardi-Goutieres Syndrome 9
Thickened glomerular basement membrane, Failure to thrive, Recurrent urinary tract infections, Hy... OMIM:619487
Anaplastic Thyroid Carcinoma
Goiter, Anaplastic thyroid carcinoma, Weight loss, Nodular goiter, Dysphagia ORPHA:142
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Loss of gluteal subcutaneous ad... ORPHA:435651
Allergic Bronchopulmonary Aspergillosis
Weight loss ORPHA:1164
Ataxia-Telangiectasia
Hypopigmentation of hair, Multiple cafe-au-lait spots, Premature graying of hair ORPHA:100
Waardenburg Syndrome
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, White foreloc... ORPHA:3440
Xfe Progeroid Syndrome
Failure to thrive, Corneal scarring, Absence of subcutaneous fat, Renal insufficiency, Proteinuri... OMIM:610965
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss, Hyperthyroidism, Goiter OMIM:188580
Drug Reaction With Eosinophilia And Systemic Symptoms
Renal insufficiency, Weight loss, Tubulointerstitial nephritis, Nephrotic syndrome, Thyroiditis ORPHA:139402
Perry Syndrome
Weight loss ORPHA:178509
Carnitine Palmitoyltransferase I Deficiency
Diarrhea, Ketonuria, Dicarboxylic aciduria, Hypoketotic hypoglycemia, Renal tubular acidosis OMIM:255120
Carney Complex, Type 1
Multiple lentigines, Hirsutism, Freckling, Red hair, Profuse pigmented skin lesions OMIM:160980
Eosinophilic Granulomatosis With Polyangiitis
Gastroesophageal reflux, Renal insufficiency, Intestinal obstruction, Hematuria, Proteinuria, Glo... ORPHA:183
Ménétrier Disease
Gastrointestinal hemorrhage, Diarrhea, Vomiting, Gastroesophageal reflux, Weight loss, Nausea, Gi... ORPHA:2494
Imerslund-Gräsbeck Syndrome
Vomiting, Failure to thrive, Proteinuria, Weight loss, Constipation ORPHA:35858
Argininemia
Oroticaciduria, Diaminoaciduria, Vomiting, Episodic vomiting OMIM:207800
Pfapa Syndrome
Weight loss ORPHA:42642
Multiple Endocrine Neoplasia Type 1
Increased serum serotonin, Diarrhea, Increased circulating cortisol level, Pituitary prolactin ce... ORPHA:652
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Aminoaciduria, Nephrocalcinosis OMIM:616084
Bronchial Neuroendocrine Tumor
Increased serum serotonin, Increased circulating cortisol level, Protracted diarrhea, Increased c... ORPHA:97287
Histidinemia
Histidinuria, Hyperhistidinemia ORPHA:2157
Somatostatinoma
Gastrointestinal hemorrhage, Diarrhea, Pituitary adenoma, Increased circulating cortisol level, S... ORPHA:97283
Methylmalonic Aciduria, Cbla Type
Vomiting, Ketonuria, Failure to thrive, Methylmalonic aciduria, Elevated urine 3-hydroxypropionic... OMIM:251100
Thymic Carcinoma
Neoplasm of the thymus, Weight loss ORPHA:99868
Marbach-Rustad Progeroid Syndrome
Insulin resistance, Reduced subcutaneous adipose tissue OMIM:619322
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Increased urine alpha-ketoglutarate concentration, Ketonuria, Hypoglycemia, Dicarboxylic aciduria... OMIM:619355
Eosinophilic Gastroenteritis
Hematochezia, Diarrhea, Vomiting, Weight loss, Steatorrhea, Dysphagia ORPHA:2070
Polymyositis
Gastrointestinal hemorrhage, Gastroesophageal reflux, Chondrocalcinosis, Weight loss, Abnormal re... ORPHA:732
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Generalized aminoaciduria, Failure to thrive, Corneal scarring, Impaired oral bolus formation, Ch... ORPHA:404454
Lipodystrophy, Familial Partial, Type 2
Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus, Increased facial a... OMIM:151660
Orotic Aciduria
Oroticaciduria, Hematuria, Failure to thrive, Orotic acid crystalluria OMIM:258900
Aromatase Deficiency
Insulin resistance, Obesity, Eunuchoid habitus, Type II diabetes mellitus, Hypergonadotropic hypo... ORPHA:91
Immunodeficiency 27A
Diarrhea, Weight loss OMIM:209950
Benign Recurrent Intrahepatic Cholestasis
Weight loss, Chronic diarrhea ORPHA:65682
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Failure to thrive in infancy, Cachexia, Constipation, Hip contracture OMIM:616801
3-Hydroxy-3-Methylglutaric Aciduria
3-Methylglutaric aciduria, Diarrhea, Ketonuria, Recurrent hypoglycemia, Weight loss, Nonketotic h... ORPHA:20
Igg4-Related Aortitis
Hydronephrosis, Weight loss, Intestinal obstruction ORPHA:449400
Celiac Disease, Susceptibility To, 1
Type I diabetes mellitus, Diarrhea, Vomiting, Failure to thrive, Recurrent aphthous stomatitis, W... OMIM:212750
Ring Chromosome 10 Syndrome
Cachexia, Renal hypoplasia/aplasia ORPHA:1438
Familial Gestational Hyperthyroidism
Activating thyroid-stimulating hormone receptor defect, Diarrhea, Thyroid hyperplasia, Goiter, We... ORPHA:99819
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Hypopigmented skin patches, Hyperpigmentation of the skin, Multiple cafe-a... ORPHA:3214
Pelizaeus-Merzbacher Disease
Failure to thrive in infancy, Cachexia, Abnormality of the urinary system, Bowel incontinence ORPHA:702
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Homocystinuria, Methylmalonic aciduria OMIM:277410
Primary Hyperoxaluria
Chronic kidney disease, Aciduria, Nephrocalcinosis, Elevated urine glycolate, Failure to thrive, ... ORPHA:416
Thyrotoxic Periodic Paralysis
Postprandial hyperglycemia, Graves disease, Urinary retention, Obesity, Decreased urinary potassi... ORPHA:79102
X-Linked Agammaglobulinemia
Cellulitis, Chronic diarrhea, Weight loss, Failure to thrive ORPHA:47
Huntington Disease
Weight loss, Oral-pharyngeal dysphagia, Decreased body mass index ORPHA:399
Bardet-Biedl Syndrome
Insulin resistance, Chronic kidney disease, Inflammation of the large intestine, Horseshoe kidney... ORPHA:110
Molybdenum Cofactor Deficiency, Type C
Increased urinary taurine OMIM:615501
Igg4-Related Kidney Disease
Chronic kidney disease, Thyroiditis, Acute kidney injury, Urinary bladder inflammation, Urethriti... ORPHA:449395
Pulmonary Non-Tuberculous Mycobacterial Infection
Diarrhea, Weight loss ORPHA:411703
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Mcdonough Syndrome
Cachexia ORPHA:2471
Muenke Syndrome
Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches ORPHA:53271
Neuroendocrine Tumor Of Stomach
Increased serum serotonin, Protracted diarrhea, Increased circulating ACTH level, Atypical pulmon... ORPHA:100075
Xeroderma Pigmentosum
Aminoaciduria, Failure to thrive, Hypogonadism ORPHA:910
Desmoplastic Small Round Cell Tumor
Cachexia, Weight loss, Ileus ORPHA:83469
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair ORPHA:70472
Kaposi Sarcoma
Diarrhea, Weight loss ORPHA:33276
Liver Disease, Severe Congenital
Aminoaciduria, Diarrhea, Vomiting, Failure to thrive, Umbilical hernia, Recurrent urinary tract i... OMIM:619991
Ppoma
Gastrointestinal hemorrhage, Diarrhea, Pituitary adenoma, Increased circulating cortisol level, S... ORPHA:97278
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Weight loss, Dysphagia, Paraganglioma ORPHA:97286
Wolman Disease
Steatorrhea, Adrenal insufficiency, Cachexia, Adrenal calcification ORPHA:75233
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Panniculitis, Weight loss ORPHA:86884
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Elevated urine acetoacetic acid level, Alpha-aminoadipic aciduria, 3-Methylglutaconic aciduria OMIM:620089
Poems Syndrome
Increased circulating prolactin concentration, Hypogonadism, Primary adrenal insufficiency, Lipod... ORPHA:2905
Vipoma
Follicular thyroid carcinoma, Secretory diarrhea, Increased circulating cortisol level, Subcutane... ORPHA:97282
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin resistance, Generalized lipodystrophy, Delayed puberty ORPHA:90154
Paget Disease Of Bone 2, Early-Onset
Hydroxyprolinuria OMIM:602080
Classic Phenylketonuria
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:79254
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Homocystinuria, Failure to thrive ORPHA:395
Hypohidrotic Ectodermal Dysplasia
Generalized hypopigmentation of hair, Irregular hyperpigmentation, Breast aplasia, Trichorrhexis ... ORPHA:238468
Castleman Disease
Ureteral obstruction, Renal insufficiency, Intestinal obstruction, Hematuria, Weight loss ORPHA:160
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome