Not currently registered for phenotyping at IMPC

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

Gene Summary

solute carrier family 4 (anion exchanger), member 4

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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 Slc4a4 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 Slc4a4 by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Decreased serum bicarbonate concentration, Metabolic acidosis, Hypokalemia, Band keratopathy, Hyp... OMIM:604278

The table below shows human diseases predicted to be associated to Slc4a4 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Isovaleric Acidemia
Metabolic acidosis ORPHA:33
Malignant Hyperthermia, Susceptibility To, 4
Acidosis OMIM:600467
Mitochondrial Complex I Deficiency, Nuclear Type 24
Increased circulating lactate concentration OMIM:618245
Phenformin 4-Hydroxylation
Lactic acidosis OMIM:261590
Intellectual Developmental Disorder, Autosomal Recessive 1
Increased circulating lactate concentration OMIM:249500
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets, Metabolic acidosis, Isothenuria, Hypokalemia, Reticulocytosis, Short stature, Nephrocalc... OMIM:611590
Tricarboxylic Acid Cycle, Defect Of
Persistent lactic acidosis OMIM:275370
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Decreased serum bicarbonate concentration, Metabolic acidosis, Hypokalemia, Band keratopathy, Hyp... OMIM:604278
Hereditary Amyloidosis With Primary Renal Involvement
Decreased liver function, Intestinal obstruction, Decreased HDL cholesterol concentration, Gastro... ORPHA:85450
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Renal salt wasting, Hyperkalemia, Metabolic acidosis, Hyperactive renin-angiotensin system, Diarr... OMIM:264350
Hypophosphatasia, Infantile
Stillbirth, Polyhydramnios, Anemia, Unossified vertebral bodies, Disproportionate short-limb shor... OMIM:241500
Pyruvate Dehydrogenase Phosphatase Deficiency
Lactic acidosis, Hyperalaninemia, Increased circulating lactate concentration, Hyperprolinemia, L... ORPHA:79246
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Renal salt wasting, Polyuria, Anemia, Hyperuricemia, Pancytopenia, Increased circulating lactate ... OMIM:613845
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets, Metabolic acidosis, Hypokalemia, Hypercalciuria, Dehydration, Vomiting, Growth delay, Ne... OMIM:602722
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Delayed puberty, Hypertriglyceridemia, Hepatocellular adenoma, Portal fibrosis, Myoglobinuria, Ab... ORPHA:264580
Succinic Acidemia
Lactic acidosis OMIM:600335
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Rickets, Osteopenia, Hepatomegaly, Metabolic acidosis, Generalized aminoaci... ORPHA:2088
Burkitt Lymphoma
Neoplasm of the oral cavity, Intestinal obstruction, Gastrointestinal hemorrhage, Abnormal lymph ... ORPHA:543
Hsd10 Disease, Neonatal Type
Abnormal concentration of acylcarnitine in the urine, Lactic acidosis, Metabolic acidosis ORPHA:391457
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Postnatal growth retardation, Decreased response to growth hormone stimulation test, ... OMIM:614732
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation
3-Methylglutaconic aciduria, Renal tubular acidosis, Cardiomyopathy, Elevated circulating creatin... ORPHA:324525
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hepatocellular adenoma, Myoglobinuria, Limb-girdle muscle weakness, Splenom... ORPHA:79240
Glomerulopathy With Fibronectin Deposits 1
Glomerular fibronectin deposits, Glomerulopathy, Nephropathy, Nephrotic syndrome, Microscopic hem... OMIM:137950
Mitochondrial Myopathy, Lethal, Infantile
Lactic acidosis OMIM:551000
Acute Adrenal Insufficiency
Delayed puberty, Decreased circulating cortisol level, Normocytic anemia, Increased circulating r... ORPHA:95409
Familial Hypoaldosteronism
Renal salt wasting, Hyperkalemia, Metabolic acidosis, Orthostatic hypotension, Diarrhea, Hypotens... ORPHA:427
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Jaundice, Metabolic acidosis, Giant cell hepatitis, Renal tubular acid... OMIM:208085
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Cholestatic liver disease, Jaundice, Metabolic acidosis, Giant cell hepatitis, Hepatomegaly, Rena... OMIM:613404
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Postnatal growth retardation, Elevated serum 11-deoxycortisol, Orthostatic hypotens... ORPHA:556030
Thrombotic Thrombocytopenic Purpura
Acute kidney injury, Hematuria, Diarrhea, Reticulocytosis, Decreased serum creatinine, Arrhythmia... ORPHA:54057
Dent Disease 1
Proximal tubulopathy, Femoral bowing, Tibial bowing, Nephrocalcinosis, Hypophosphatemia, Metaphys... OMIM:300009
Acetyl-Coa Carboxylase-Alpha Deficiency
Increased circulating lactate concentration OMIM:613933
Hypokalemic Tubulopathy And Deafness
Increased circulating renin level, Renal salt wasting, Acidosis, Hyperaldosteronism OMIM:619406
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Alaninuria, Metabolic acidosis, Increased circulating lactate concentration OMIM:615158
Addison Disease
Delayed puberty, Generalized bone demineralization, Decreased circulating cortisol level, Type I ... ORPHA:85138
Bartter Syndrome, Type 1, Antenatal
Renal potassium wasting, Increased serum prostaglandin E2, Nephrocalcinosis, Hyperaldosteronism, ... OMIM:601678
East Syndrome
Renal salt wasting, Hypokalemia, Enuresis, Increased circulating renin level, Metabolic alkalosis... ORPHA:199343
Juvenile Nephropathic Cystinosis
Proximal tubulopathy, Renal Fanconi syndrome, Corneal crystals, Hypophosphatemia, Elevated circul... ORPHA:411634
Lysosomal Acid Lipase Deficiency
Hypertriglyceridemia, Decreased liver function, Steatorrhea, Xanthelasma, Cachexia, Ascites, Hype... ORPHA:275761
Pyruvate Dehydrogenase E1-Beta Deficiency
Hyperammonemia, Lactic acidosis OMIM:614111
Hypophosphatemic Rickets, X-Linked Recessive
Proximal tubulopathy, Femoral bowing, Tibial bowing, Nephrocalcinosis, Hypophosphatemia, Metaphys... OMIM:300554
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Renal salt wasting, Dehydration, Hypotension, Increased circulating renin level, Hy... OMIM:203400
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Rickets, Hypophosphatemic rickets, Fibular bowing, Renal phosphate wasting, Delayed epiphyseal os... OMIM:241530
Bartter Syndrome, Type 3
Renal salt wasting, Polyuria, Hyperchloriduria, Hypokalemia, Hypocalciuria, Hyperactive renin-ang... OMIM:607364
Pseudomyxoma Peritonei
Intestinal obstruction, Lymphadenopathy, Abnormal peritoneum morphology, Abdominal pain, Ascites,... ORPHA:26790
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3
3-Methylglutaconic aciduria, Lactic acidosis OMIM:614053
Combined Oxidative Phosphorylation Deficiency 55
Proximal tubulopathy, Hypophosphatemia, Myopathy, Genu varum, Stage 3 chronic kidney disease, Typ... OMIM:619743
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Corticosterone Methyloxidase Type Ii Deficiency
Renal salt wasting, Hyperkalemia, Orthostatic hypotension, Increased circulating corticosterone l... OMIM:610600
Increased fecal harderoporphyrin, Hepatomegaly, Increased urine harderoporphyrin level, Increased... OMIM:618892
Mirage Syndrome
Chronic diarrhea, Leukopenia, Lymphopenia, Intrauterine growth retardation, Adrenal insufficiency... OMIM:617053
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Postnatal growth retardation, Elevated serum 11-deoxycortisol, Orthostatic hypotens... ORPHA:556037
Dent Disease
Tubulointerstitial fibrosis, Proximal tubulopathy, Nephrocalcinosis, Metaphyseal irregularity, Re... ORPHA:1652
Hypocalcemia, Autosomal Dominant 1
Decreased glomerular filtration rate, Hypokalemia, Hypercalciuria, Hypocalcemia, Nephrolithiasis,... OMIM:601198
3-Hydroxyisobutyric Aciduria
Ketoacidosis, Aminoaciduria, Lactic acidosis, Episodic ketoacidosis OMIM:236795
Diffuse Neonatal Hemangiomatosis
Renal hypoplasia/aplasia, Hepatomegaly, Anemia, Polyhydramnios, Hydrops fetalis, Ascites, Thrombo... ORPHA:2123
Wolcott-Rallison Syndrome
Lymphocytosis, Ascites, Hyperammonemia, Acute hepatic failure, Neutropenia, Jaundice, Central hyp... ORPHA:1667
Adenine Phosphoribosyltransferase Deficiency
Hematuria, Metabolic acidosis, Nephrolithiasis, Urolithiasis, Oliguria, Elevated circulating crea... OMIM:614723
Distal Renal Tubular Acidosis
Reduced bone mineral density, Decreased glomerular filtration rate, Renal potassium wasting, Prox... ORPHA:18
Hypomagnesemia 3, Renal
Hypertension, Short metacarpal, Nephrocalcinosis, Macroscopic hematuria, Stage 5 chronic kidney d... OMIM:248250
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Low-molecular-weight proteinuria, Hypercalciuria, Hyposthenuria, Proximal tubulopathy, Beta 2-mic... OMIM:308990
Oculoskeletodental Syndrome
Hepatomegaly, Protein-losing enteropathy, Hypercalciuria, Hypocalcemia, Elbow flexion contracture... OMIM:618440
Renal Hypoplasia, Bilateral
Hyperkalemia, Metabolic acidosis, Anemia, Decreased glomerular filtration rate, Vesicoureteral re... ORPHA:97362
Pearson Marrow-Pancreas Syndrome
Steatorrhea, Chronic diarrhea, Complex organic aciduria, Type I diabetes mellitus, Pancreatic fib... OMIM:557000
Generalized Pseudohypoaldosteronism Type 1
Hyperkalemia, Metabolic acidosis, Cholelithiasis, Recurrent tonsillitis, Dehydration, Hypovolemic... ORPHA:171876
Kearns-Sayre Syndrome
Lactic acidosis, Hypoparathyroidism, Renal tubular acidosis, Ragged-red muscle fibers, Cardiomyop... OMIM:530000
Hirschsprung Disease
Intestinal obstruction, Neoplasm of the thyroid gland, Aganglionic megacolon, Intestinal polyposi... ORPHA:388
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Metabolic acidosis, Diarrhea, Hyperactive renin-angiotensin system, Pseudohypoaldos... OMIM:177735
Cholestasis, Abnormal blood ion concentration, Paralytic ileus, Anorexia, Acute kidney injury, He... ORPHA:810
Cystinosis, Nephropathic
Delayed puberty, Recurrent corneal erosions, Generalized aminoaciduria, Primary hypothyroidism, R... OMIM:219800
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To
Metabolic acidosis, Increased level of L-pyroglutamic acid in urine OMIM:231900
Combined Oxidative Phosphorylation Deficiency 11
Stillbirth, Lactic acidosis, Hepatomegaly, Polyhydramnios, Renal tubular acidosis, Renal insuffic... OMIM:614922
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Renal salt wasting, Polyuria, Hypokalemia, Hypocalciuria, Renal potassium wasting, Hypertension, ... OMIM:612780
Wolman Disease
Abdominal distention, Steatorrhea, Hepatomegaly, Anemia, Cachexia, Bone-marrow foam cells, Esopha... ORPHA:75233
Rhabdoid Tumor
Renal neoplasm, Anemia, Lymphadenopathy, Hematuria, Hypertension, Internal hemorrhage, Thrombocyt... ORPHA:69077
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Abnormal magnesium concentration, Hypokalemic alkalosis, Hypokalemia, Proximal tubulopathy, Incre... OMIM:241150
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Renal tubular acidosis, Hypercalciuria, Vomiting, Nephrocalcinosis, Hypercalcemia, Hyperparathyro... OMIM:239199
Porphyria Due To Ala Dehydratase Deficiency
Abdominal distention, Increased erythrocyte protoporphyrin concentration, Increased urinary porph... ORPHA:100924
Pyruvate Carboxylase Deficiency
Hepatomegaly, Lactic acidosis, Increased serum pyruvate, Hyperalaninemia, Increased circulating l... OMIM:266150
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Intestinal obstruction, Hepatomegaly, Anemia, Iron deficiency anemia, Intestinal lymphangiectasia... OMIM:226300
Diarrhea 1, Secretory Chloride, Congenital
Abdominal distention, Hypokalemia, Hyperactive renin-angiotensin system, Elevated stool chloride ... OMIM:214700
Combined Oxidative Phosphorylation Deficiency 44
Increased circulating lactate concentration OMIM:618855
Fanconi-Bickel Syndrome
Generalized aminoaciduria, Hypophosphatemia, Rickets, Intrahepatic cholestasis, Hyperphosphaturia... OMIM:227810
Galactosemia I
Increased level of galactitol in red blood cells, Decreased liver function, Cirrhosis, Hepatomega... OMIM:230400
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Anemia, Bone cyst, Hypercalcemia, Proteinuria, Renal insufficiency, Hyperparathyr... ORPHA:2668
Gitelman Syndrome
Delayed puberty, Polyuria, Hypokalemic alkalosis, Prolonged QT interval, Hypokalemia, Hypocalciur... OMIM:263800
Hypercalcemia, Infantile, 1
Polyuria, Hypercalciuria, Medullary nephrocalcinosis, Nephrolithiasis, Dehydration, Vomiting, Nep... OMIM:143880
Gracile Syndrome
Chronic lactic acidosis, Increased serum pyruvate, Increased circulating iron concentration, Incr... OMIM:603358
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Lactic acidosis, Hypospadias, Gastroesophageal reflux, Renal tubular acidosis, Type 2 muscle fibe... OMIM:615471
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cachexia, Dysphagia, Abdominal pain, Nausea, Poor appetite, Weight loss, Hypogonadotropic hypogon... ORPHA:298
Dent Disease 2
Low-molecular-weight proteinuria, Hypercalciuria, Proximal tubulopathy, Elevated circulating crea... OMIM:300555
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Enlarged kidney, Hypertyrosinemia, Ascites, Nephrocalcinosis, Spleno... OMIM:276700
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia of inadequate production, Reticulocytosis, Unconjugated hyperbilirubinemia, Circulating nu... OMIM:613673
Pearson Syndrome
Steatorrhea, Chronic diarrhea, Cardiomyopathy, Reticulocytosis, Bone marrow hypocellularity, Sple... ORPHA:699
Castleman Disease
Intestinal obstruction, Abdominal distention, Jaundice, Mediastinal lymphadenopathy, Anemia, Elev... ORPHA:160
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Autoimmune hemolytic anemia, Intestinal obstruction, Ileal atresia, Impaired lymphocyte transform... OMIM:243150
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Delayed puberty, Absence of secondary sex characteristics, Reduced bone mineral density, Hypernat... ORPHA:289548
Peutz-Jeghers Syndrome
Intestinal obstruction, Gastrointestinal hemorrhage, Abnormality of the gallbladder, Biliary trac... ORPHA:2869
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Delayed puberty, Absence of secondary sex characteristics, Reduced bone mineral density, Hypernat... ORPHA:168558
Gitelman Syndrome
Delayed puberty, Neoplasm of the pancreas, Prolonged QT interval, Urinary incontinence, Prominent... ORPHA:358
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating osteocalcin level, Hypophosphatemic rickets, Reduced bone mineral density, ... ORPHA:157215
Bartter Syndrome, Type 2, Antenatal
Renal potassium wasting, Increased serum prostaglandin E2, Nephrocalcinosis, Hyperaldosteronism, ... OMIM:241200
Hyperparathyroidism, Neonatal Severe
Polyuria, Elevated circulating parathyroid hormone level, Hepatomegaly, Anemia, Calcinosis, Hyper... OMIM:239200
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Ketonuria, Lactic acidosis, Metabolic acidosis, Elevated urine acetoacetic acid level, Low plasma... OMIM:615751
Acetyl-Coa Acetyltransferase-2 Deficiency
Increased circulating lactate concentration OMIM:614055
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Recurrent aphthous stomatitis, Diarrhea, Abdominal pain, Crohn's disease,... OMIM:266600
Mitochondrial Complex I Deficiency, Nuclear Type 35
Lactic acidosis, Elevated lactate:pyruvate ratio, Metabolic acidosis, Elevated urinary 4-hydroxyb... OMIM:619003
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Hypokalemia, Hypercalciuria, Hypertension, Abnormal circulating renin, Glu... ORPHA:251274
Late-Onset Isolated Acth Deficiency
Macrocytic anemia, Pituitary adenoma, Decreased circulating cortisol level, Nausea and vomiting, ... ORPHA:199299
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Dicarboxylic aciduria, Renal tubular acidosis, Diarrhea, Transient hyperlipidemia, ... OMIM:255120
Porphyria Variegata
Elevated urinary delta-aminolevulinic acid, Anemia, Increased urinary porphobilinogen, Abdominal ... ORPHA:79473
Say Syndrome
Ulnar deviation of the 3rd finger, Short stature, Cleft palate, Proximal renal tubular acidosis, ... OMIM:181180
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Osteopenia, Metabolic acidosis, Medullary nephrocalcinosis, Beta 2-microglobulinuria, Renal corti... OMIM:611555
Combined Oxidative Phosphorylation Deficiency 16
Increased circulating lactate concentration OMIM:615395
Bartter Syndrome Type 4
Renal salt wasting, Acute kidney injury, Polyhydramnios, Hyperprostaglandinuria, Hypokalemia, Hyp... ORPHA:89938
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Lactic acidosis, Diarrhea, Cachexia, Proximal tubulopathy, Vomiting, Failure to thrive, Feeding d... OMIM:612075
Renal Tubular Acidosis, Proximal
Rickets, Hypercalciuria, Hyperchloremic acidosis, Short stature, Proximal renal tubular acidosis,... OMIM:179830
Blue Diaper Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Metabolic acidosis, Diarrhea, Blu... ORPHA:94086
Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the pancreas, Steatorrhea, Normo... ORPHA:97280
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Lactic acidosis, Metabolic acidosis, Increased circulating lactate concentration, Postaxial polyd... OMIM:615824
Abnormality of the gastrointestinal tract, Anemia, Premature skin wrinkling, Diarrhea, Ascites, C... ORPHA:79325
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatomegaly, Renal tubular acidosis, Transient hyperlipidemia, Hypertrophic cardiomyopathy, Skel... ORPHA:156
Mitochondrial Complex Iv Deficiency, Nuclear Type 18
Increased circulating lactate concentration OMIM:619062
Adrenocortical Carcinoma
Increased circulating androstenedione concentration, Elevated serum 11-deoxycortisol, Hypokalemia... ORPHA:1501
Alagille Syndrome 2
Cholestatic liver disease, Hematuria, Renal tubular acidosis, Hypertension, Cholestasis, Renal cy... OMIM:610205
4-hydroxyphenylacetic aciduria, Abnormal circulating tyrosine concentration, Metabolic acidosis, ... ORPHA:2118
Proximal Renal Tubular Acidosis
Reduced bone mineral density, Bicarbonate-wasting renal tubular acidosis, Hypernatriuria, Nephroc... ORPHA:47159
Glutamate-Cysteine Ligase Deficiency
Jaundice, Myopathy, Reticulocytosis, Hepatosplenomegaly, Aminoaciduria, Hemolytic anemia ORPHA:33574
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Hydrops fetalis, Reticu... ORPHA:766
Wilson Disease
Sunflower cataract, Portal fibrosis, Ascites, Splenomegaly, Dysphagia, High nonceruloplasmin-boun... OMIM:277900
Necrotizing Enterocolitis
Abdominal distention, Metabolic acidosis, Abdominal rigidity, Diarrhea, Hypoactive bowel sounds, ... ORPHA:391673
Hyperaldosteronism, Familial, Type Iii
Polyuria, Metabolic acidosis, Hypokalemia, Hypercalciuria, Decreased circulating renin level, Hyp... OMIM:613677
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Renal salt wasting, Polyuria, Polyhydramnios, Decreased glomerular filtration rate, Hyperchloridu... OMIM:613090
Central Diabetes Insipidus
Anorexia, Diabetes insipidus, Diarrhea, Hyponatremia, Failure to thrive, Nocturia, Weight loss, N... ORPHA:178029
Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the pancreas, Steatorrhea, Ascit... ORPHA:97283
Ghosal Hematodiaphyseal Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Abnormal femur morphology, Anemia, Ab... ORPHA:1802
Hypercalcemia, Infantile, 2
Polyuria, Renal phosphate wasting, Hypercalciuria, Medullary nephrocalcinosis, Nephrocalcinosis, ... OMIM:616963
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hydrops fetalis, Hepatomegaly, Polyhydramnios, Abnormal cortical bone morphology, Increased bone ... ORPHA:2204
Coproporphyria, Hereditary
Elevated urinary delta-aminolevulinic acid, Jaundice, Hepatomegaly, Increased urinary porphobilin... OMIM:121300
Fanconi Renotubular Syndrome 2
Osteopenia, Rickets, Elevated circulating parathyroid hormone level, Decreased glomerular filtrat... OMIM:613388
Thrombotic Thrombocytopenic Purpura, Hereditary
Jaundice, Hemolytic-uremic syndrome, Transient ischemic attack, Reticulocytosis, Increased circul... OMIM:274150
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Hypoparathyroidism, Clinodactyly of the 5th finger, Clubbing of fingers, Hypercalciur... OMIM:156400
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Lactic acidosis, Metabolic acidosis, Dicarboxyl... OMIM:615026
Oculocerebrorenal Syndrome Of Lowe
Delayed puberty, Abnormal circulating calcium-phosphate regulating hormone concentration, Cheilit... ORPHA:534
Glutathione Synthetase Deficiency
Chronic metabolic acidosis ORPHA:32
Infantile Nephropathic Cystinosis
Low-molecular-weight proteinuria, Rickets, Abnormality of thyroid physiology, Hypokalemia, Dehydr... ORPHA:411629
Leigh Syndrome
3-Methylglutaconic aciduria, Generalized aminoaciduria, Dysphagia, Complex organic aciduria, Intr... ORPHA:506
Snakebite Envenomation
Acute kidney injury, Diarrhea, Gingival bleeding, Neuromuscular dysphagia, Vomiting, Hyponatremia... ORPHA:449285
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly, Pallor ORPHA:46532
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypokalemia, Decreased circulating renin level, Hypertension, Neoplasm of the adrenal gland, Gluc... ORPHA:231625
Familial Isolated Hyperparathyroidism
Osteopenia, Elevated circulating parathyroid hormone level, Hypercalciuria, Primary hyperparathyr... ORPHA:99879
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypokalemia, Hypertension, Abnormal circulating renin, Nephrolithiasis, Pulmonary arterial hypert... ORPHA:369929
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Lactic acidosis, Anemia, Hepatomegaly, Renal tubular dysfunction, Hypertrophic cardiomyopathy, Sk... ORPHA:436271
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Reticulocytosis, Unconjugated hyperbilirubinemia, Hemoglobinuria, Intussusception, Elevated circu... ORPHA:90038
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hepatomegaly, Lactic acidosis, Increased circulating lactate concentration, Growth delay, Siderob... OMIM:613561
Anorexia, Skin ulcer, Hepatomegaly, Abnormal oral cavity morphology, Anemia, Pancytopenia, Abnorm... ORPHA:507
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Lactic acidosis, Anemia, Hepatomegaly, High palate, Hypertrophic cardiomyopathy, Increased circul... OMIM:220110
Gaisböck Syndrome
Hypertriglyceridemia, Peptic ulcer, Myocardial infarction, Increased red blood cell count, Elevat... ORPHA:90041
Hereditary Coproporphyria
Elevated urinary delta-aminolevulinic acid, Increased urinary porphobilinogen, Episodic vomiting,... ORPHA:79273
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Metabolic acidosis, Anemia, Increased circulating lactate concentration, Failure to thrive, Feedi... OMIM:610090
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyperkalemia, Metabolic acidosis, Dehydration, Hypotension, Increased circulating renin level, Hy... OMIM:620125
Combined Oxidative Phosphorylation Deficiency 52
Pancreatitis, Metabolic acidosis, Renal insufficiency, Lacticaciduria, Hyperamylasemia, Hyperalan... OMIM:619386
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Congestive heart failure, Pulmonary edema, Hyperprostaglandinuria, Hypercalciuria, Hypocalcemia, ... ORPHA:73224
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyperkalemia, Metabolic acidosis, Dehydration, Increased circulating renin level, Hyponatremia, V... OMIM:620126
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Pancreatitis, Renal tubular acidosis, Decreased circulating carnitine concentration, Organic acid... ORPHA:431361
Propionic Acidemia
Cerebellar hemorrhage, Lactic acidosis, Metabolic acidosis, Anemia, Pancreatitis, Pancytopenia, H... OMIM:606054
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Hyperinsulinemia, Hypophosphatemic rickets, Increased hepatic glycogen content, Dia... ORPHA:263455
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Hypocalcemia, Impaired urinary acidification, Nephrolithiasis, Nephrocalcinosis, Dis... OMIM:179800
Primary Fanconi Renotubular Syndrome
Generalized aminoaciduria, Abnormal urine pH, Bicarbonate-wasting renal tubular acidosis, Hypopho... ORPHA:3337
Apparent Mineralocorticoid Excess
Hypokalemia, Renal insufficiency, Decreased circulating renin level, Hypertension, Left ventricul... ORPHA:320
Amoebiasis Due To Entamoeba Histolytica
Lung abscess, Intestinal obstruction, Liver abscess, Anemia, Acute colitis, Abdominal pain, Diarr... ORPHA:67
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anorexia, Protein-losing enteropathy, Anemia, Hypokalemia, Glossitis, Hypocalcemia, Cachexia, Abd... OMIM:175500
Cronkhite-Canada Syndrome
Anorexia, Hepatomegaly, Anemia, Intestinal polyposis, Stomach cancer, Diarrhea, Cachexia, Abdomin... ORPHA:2930
Glycogen Storage Disease Vii
Increased muscle glycogen content, Jaundice, Exercise-induced myoglobinuria, Hematuria, Cholelith... OMIM:232800
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Renal salt wasting, Increased circulating androstenedione concentration, Hyperkalemia, Penoscrota... ORPHA:90791
Non-Functioning Paraganglioma
Congestive heart failure, Episodic hyperhidrosis, Hematuria, Hypertension associated with pheochr... ORPHA:94080
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Metabolic acidosis, Elevated circulating suberic acid concentration, Increased serum pyruvate, Hy... OMIM:615160
Budd-Chiari Syndrome
Intestinal obstruction, Cirrhosis, Jaundice, Hepatomegaly, Gastrointestinal hemorrhage, Gastroint... ORPHA:131
Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the pancreas, Ascites, Pituitary... ORPHA:97278
Primary Myelofibrosis
Anorexia, Purpura, Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Petechiae... ORPHA:824
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Renal salt wasting, Polyuria, Hydrops fetalis, Polyhydramnios, Decreased glomerular filtration ra... OMIM:602522
Fanconi Renotubular Syndrome 3
Low-molecular-weight proteinuria, Metabolic acidosis, Glycosuria, Hyperphosphaturia, Elevated cir... OMIM:615605
Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the pancreas, Pheochromocytoma, ... ORPHA:97261
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Lactic acidosis, Metabolic acidosis, Anemia, Hematuria, Increased mean corpuscular volume, Hypert... OMIM:617021
Paroxysmal Nocturnal Hemoglobinuria
Conjunctival icterus, Hypertension, Abnormal erythrocyte enzyme concentration or activity, Reticu... ORPHA:447
Zollinger-Ellison Syndrome
Duodenal ulcer, Gastrointestinal hemorrhage, Intestinal obstruction, Pituitary growth hormone cel... ORPHA:913
Osteopetrosis With Renal Tubular Acidosis
Bone marrow hypocellularity, Enlarged tonsils, Leukopenia, Oligohydramnios, Metabolic acidosis, R... ORPHA:2785
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Jaundice, Hepatomegaly, Hemophagoc... OMIM:267700
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Glomerular sclerosis, Hypercalciuria, Tubulointerstitial fibros... OMIM:310468
Short Chain Acyl-Coa Dehydrogenase Deficiency
Metabolic acidosis, Cardiomyopathy, Ethylmalonic aciduria, Increased level of methylsuccinic acid... ORPHA:26792
Dominant Beta-Thalassemia
Delayed puberty, Splenomegaly, Decreased mean corpuscular volume, Adrenal insufficiency, Jaundice... ORPHA:231226
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Delayed puberty, Lactic acidosis, Pappenheimer bodies, High palate, Increased circulating lactate... OMIM:600462
Legionnaires Disease
Anorexia, Jaundice, Pancreatitis, Lymphadenopathy, Hematuria, Renal insufficiency, Diarrhea, Abdo... ORPHA:549
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Hepatomegaly, Metabolic acidosis, Bradycardia, Hyperalaninemia, Increas... OMIM:619048
Andersen-Tawil Syndrome
Clinodactyly of the 5th toe, Polymorphic ventricular tachycardia, Prolonged QT interval, Prominen... ORPHA:37553
Familial Glucocorticoid Deficiency
Hyperkalemia, Renal salt wasting, Anorexia, Diarrhea, Recurrent urinary tract infections, Decreas... ORPHA:361
Medullary Sponge Kidney
Hypercalciuria, Hematuria, Nephrolithiasis, Distal renal tubular acidosis ORPHA:1309
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormality of the endocrine system, Cachexia, Abnormal intestine morphology, Splenomegaly, Abnor... ORPHA:37042
Mantle Cell Lymphoma
Anorexia, Abnormality of the gastrointestinal tract, Lymphadenopathy, Splenomegaly, Weight loss ORPHA:52416
Paternal Uniparental Disomy Of Chromosome 1
Delayed puberty, Enlarged kidney, Hypertension, Episodic hemolytic anemia, Anhidrosis, Increased ... ORPHA:251004
Developmental And Epileptic Encephalopathy 50
Anisopoikilocytosis, Anemia, Oroticaciduria, Renal tubular acidosis, Diarrhea, Hyperammonemia, Dy... OMIM:616457
Sengers Syndrome
Osteopenia, 3-Methylglutaconic aciduria, Lactic acidosis, Cardiac arrest, Pulmonary arterial hype... OMIM:212350
Hypothyroidism, Congenital, Nongoitrous, 6
Anemia, Delayed eruption of teeth, Increased T3/T4 ratio, Increased body weight, Dry skin, Congen... OMIM:614450
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Abdominal distention, Intestinal pseudo-obstruction, Cachexia, Abdominal pain, Constipation, Slen... OMIM:613662
Methylmalonyl-Coa Epimerase Deficiency
Metabolic acidosis, Hyperhomocystinemia, Elevated circulating palmitoleylcarnitine concentration,... OMIM:251120
Glycogen Storage Disease 0, Liver
Increased circulating lactate concentration OMIM:240600
Beta-Thalassemia Major
Delayed puberty, Anemia of inadequate production, Splenomegaly, Decreased mean corpuscular volume... ORPHA:231214
Granulomatous Slack Skin
Hypercalcemia, Acute kidney injury, Nephrocalcinosis, Abnormal lymph node morphology ORPHA:33111
Gracile Syndrome
Cirrhosis, Lactic acidosis, Decreased transferrin saturation, Cholestasis, Elevated hepatic iron ... ORPHA:53693
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Anemia, Lymphadenopathy, Ileus, Chronic diarrhea, Decreased FOXP3-expressing T c... OMIM:304790
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Lactic acidosis, Metabolic acidosis, Macrocytic anemia, Increased serum pyruvate, Hyperalaninemia... OMIM:619046
Fanconi Renotubular Syndrome 1
Low-molecular-weight proteinuria, Metabolic acidosis, Hypokalemia, Renal tubular dysfunction, Gly... OMIM:134600
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Ragged-red muscle fibers, Facial palsy, Elevated circulating creatine kinase concentration, Incre... OMIM:616209
Normochromic anemia, Reduced circulating prolactin concentration, Hyposthenuria, Increased circul... ORPHA:95512
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Acidosis OMIM:204730
Colchicine Poisoning
Lactic acidosis, Metabolic acidosis, Abnormality of acid-base homeostasis, Hypokalemia, Hypocalce... ORPHA:31824
Primary Unilateral Adrenal Hyperplasia
Hypokalemia, Decreased circulating renin level, Hypertension, Glucocortocoid-insensitive primary ... ORPHA:231580
Phosphoglycerate Kinase 1 Deficiency
Exercise-induced myoglobinuria, Reticulocytosis, Rhabdomyolysis, Erythroid hyperplasia, Renal ins... OMIM:300653
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypokalemia, Decreased circulating renin level, Hypertension, Nephrolithiasis, Pulmonary arterial... OMIM:615474
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Hyperbilirubinemia, Anemia of inadequate production, Reticulocytosis, Spl... OMIM:237800
Metabolic acidosis, Renal tubular acidosis, Stomatitis, Abnormal circulating tryptophan concentra... ORPHA:79155
Aredyld Syndrome
Advanced eruption of teeth, Hepatomegaly, Craniofacial hyperostosis, Abnormal dental enamel morph... ORPHA:1133
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
3-Methylglutaconic aciduria, Lactic acidosis, Elevated serum anion gap, Elevated circulating crea... OMIM:618120
Bartter Syndrome, Type 5, Antenatal, Transient
Polyuria, Polyhydramnios, Hypokalemia, Hypercalciuria, Medullary nephrocalcinosis, Hypochloremia,... OMIM:300971
Hereditary Renal Hypouricemia
Abnormal renal tubule morphology, Acute kidney injury, Hematuria, Decreased glomerular filtration... ORPHA:94088
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Anterior open-bite malocclusion, Leukocytosis, Hypothyroidism, Hyponatremia, Hashimoto thyroiditi... ORPHA:83601
Anemia, Congenital Dyserythropoietic, Type Ib
Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,... OMIM:615631
Normochromic anemia, Abnormal posterior pituitary morphogenesis, Decreased circulating cortisol l... ORPHA:95513
Desmoplastic Small Round Cell Tumor
Abdominal distention, Hepatomegaly, Anemia, Lymphadenopathy, Neoplasm of the pancreas, Abnormal p... ORPHA:83469
Visceral Myopathy 2
Intestinal obstruction, Rectal prolapse, Gastroesophageal reflux, Gastroparesis, Intestinal pseud... OMIM:619350
Sialidosis Type 2
Hepatomegaly, Hydrops fetalis, Corneal opacity, Ascites, Osteoporosis, Short stature, Splenomegal... ORPHA:87876
Infantile Myofibromatosis
Abnormality of the kidney, Intestinal obstruction, Neoplasm of the pancreas, Skin ulcer, Gingival... ORPHA:2591
Whipple Disease
Anorexia, Gastrointestinal hemorrhage, Hepatomegaly, Anemia, Mediastinal lymphadenopathy, Diarrhe... ORPHA:3452
Idiopathic Hypercalciuria
Osteopenia, Calcium oxalate nephrolithiasis, Hypercalciuria, Osteoporosis, Renal calcium wasting ORPHA:2197
Blue Diaper Syndrome
Abnormal abdomen morphology, Nephrocalcinosis, Hypercalcemia, Abnormal circulating tryptophan con... OMIM:211000
Sepsis In Premature Infants
Decreased liver function, Splenomegaly, Oliguria, Neutropenia, Jaundice, Metabolic acidosis, Pete... ORPHA:90051
Sheehan Syndrome
Normochromic anemia, Decreased circulating cortisol level, Central adrenal insufficiency, Reduced... ORPHA:91355
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Delayed puberty, Abnormality of the kidney, Cirrhosis, Hepatomegaly, Portal fibrosis, Osteopenia,... ORPHA:369
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Pancytopenia, Lymphadenop... OMIM:603553
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating thyroid-stimulating hormone concentration, Hepatomegaly, Lactic acidosis, Pa... OMIM:617872
Acute Myelomonocytic Leukemia
Anemia, Leukocytosis, Thrombocytopenia, Weight loss, Eosinophilia, Pallor, Abnormality of the gin... ORPHA:517
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myoglobinuria, Hyperbilirubinemia, Reticulocytosis, Decreased hemoglobin concentration, Rhabdomyo... ORPHA:713
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Edema, Congeni... ORPHA:3202
Thymic Neuroendocrine Tumor
Osteopenia, Neoplasm of the endocrine system, Mediastinal lymphadenopathy, Pancreatic islet cell ... ORPHA:97289
Beta-Thalassemia Intermedia
Decreased liver function, Proximal tubulopathy, Anemia of inadequate production, Splenomegaly, Hy... ORPHA:231222
Combined Oxidative Phosphorylation Deficiency 43
Gastroesophageal reflux, Projectile vomiting, Elevated circulating creatine kinase concentration,... OMIM:618851
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Hypertension, Hyperli... ORPHA:189427
Igg4-Related Aortitis
Intestinal obstruction, Elevated circulating C-reactive protein concentration, Abdominal pain, Hy... ORPHA:449400
Oculoskeletodental Syndrome
Hypocalcemia, Short stature, Hypoplasia of the capital femoral epiphysis, Nephrocalcinosis, Hyper... ORPHA:557003
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Metabolic acidosis, Hyperalaninemia ORPHA:2597
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Hydroxyprolinemia, Hyperuricemia, Hypercalciuria, Increased bone mineral density, Inc... OMIM:239000
Aids Wasting Syndrome
Anorexia, Cachexia, Malabsorption, Weight loss, Malnutrition, Abnormal gonadotropin-releasing hor... ORPHA:90081
Sanjad-Sakati Syndrome
Postnatal growth retardation, Thin vermilion border, Intestinal obstruction, Hypoparathyroidism, ... ORPHA:2323
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Elevated hepatic iron concentration, Siderobla... OMIM:615234
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Osteopetrosis, Anemia, Diaphyseal sclerosis, Short stature, Hepatosplenomeg... OMIM:259730
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Lactic acidosis, Elevated lactate:pyruvate ratio, Severe lactic acidosis, Increased circulating l... OMIM:616111
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Glossitis, Megaloblastic anemia, Abnormal h... ORPHA:35858
Infection-Related Hemolytic Uremic Syndrome
Decreased urine output, Oliguria, Intussusception, Acute kidney injury, Hypocalcemia, Abdominal p... ORPHA:544482
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Polyuria, Metabolic acidosis, Hypokalemia, Hypocalcemia, Hyponatremia, Nephrocalcinosis, Hypomagn... OMIM:620152
Acute kidney injury, Lactic acidosis, Hypokalemia, Hypocalcemia, Abdominal pain, Diarrhea, Achlor... ORPHA:173
Acute Peripheral Arterial Occlusion
Pallor, Leukocytosis, Acidosis ORPHA:90064
Beta-Ketothiolase Deficiency
Anorexia, Hepatomegaly, Metabolic acidosis, Hyperuricemia, Diarrhea, Leukocytosis, Increased circ... ORPHA:134
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Polyuria, Elevated circulating thyroid-stimulating hormone concentration, P... OMIM:618183
Hyperimmunoglobulinemia D With Periodic Fever
Intestinal obstruction, Purpura, Hepatomegaly, Gastrointestinal hemorrhage, Lymphadenopathy, Recu... ORPHA:343
Vici Syndrome
Renal tubular acidosis, High palate, Cardiomyopathy, Short stature, Ureteral atresia, Cataract ORPHA:1493
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Growth delay, Splenomegaly, Weight loss, Feeding difficulties, Nausea and... ORPHA:79238
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteopenia, Renal phosphate wasting, Hypercalciuria, Nephrolithiasis, Osteoporosis, Hyperphosphat... OMIM:612286
Multicentric Carpotarsal Osteolysis Syndrome
Osteopenia, Metacarpal osteolysis, Congenital diaphragmatic hernia, Carpal osteolysis, Hypertensi... OMIM:166300
Liver Disease, Severe Congenital
Lymphocytosis, Hypoproteinemia, Ascites, Biliary hyperplasia, Hyperammonemia, Leukopenia, Splenom... OMIM:619991
Isolated Glycerol Kinase Deficiency
Metabolic acidosis, Elevated circulating creatine kinase concentration, Osteoporosis, Short statu... ORPHA:408
Sporadic Pheochromocytoma/Secreting Paraganglioma
Congestive heart failure, Episodic hyperhidrosis, Extraadrenal pheochromocytoma, Hematuria, Glome... ORPHA:276621
Coenzyme Q10 Deficiency, Primary, 3
Decreased level of coenzyme Q10 in skeletal muscle, Increased circulating lactate concentration, ... OMIM:614652
Lactase Deficiency, Congenital
Metabolic acidosis OMIM:223000
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Hyperammonemia, Metabolic acidosis, Increased circulating lactate concentration OMIM:620137
2P21 Microdeletion Syndrome
Lactic acidosis, Hypocalcemia, Nephrolithiasis, Growth delay, Hypogonadism, Cystinuria ORPHA:163693
Abnormal metaphysis morphology, Anemia, Bowing of the long bones, Short stature, Hypercalcemia, C... ORPHA:436
Hyperparathyroidism 4
Osteopenia, Parathyroid carcinoma, Nephrolithiasis, Primary hyperparathyroidism, Hypercalcemia OMIM:617343
Familial Mediterranean Fever
Intestinal obstruction, Ascites, Nephrocalcinosis, Acute hepatic failure, Splenomegaly, Nausea an... ORPHA:342
Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss
Nephrolithiasis, Renal tubular acidosis OMIM:267300
Multiple Endocrine Neoplasia Type 2
Elevated urinary vanillylmandelic acid, Pheochromocytoma, Elevated urinary epinephrine level, Hyp... ORPHA:653
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Reduced blood urea nitrogen, Hyposthenuria, Elevated systolic blood pressure, Decreased circulati... OMIM:300539
Renal Tubular Acidosis Iii
Rickets, Hypokalemia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, Nephrocalcinos... OMIM:267200
X-Linked Sideroblastic Anemia
Pallor, Abnormality of iron homeostasis, Anemia, Splenomegaly ORPHA:75563
Volvulus Of Midgut
Abdominal distention, Constipation, Intestinal malrotation, Volvulus, Neonatal intestinal obstruc... OMIM:193250
Primary Hyperoxaluria
Heart block, Metabolic acidosis, Aciduria, Hematuria, Calcium oxalate nephrolithiasis, Hypercalci... ORPHA:416
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Calcinosis, Hypokalemia, Gastroesophageal reflux, Hypocalcemia, High palate, Renal artery stenosi... OMIM:617913
Sulfide:Quinone Oxidoreductase Deficiency
Lactic acidosis, Elevated circulating creatine kinase concentration OMIM:619221
Secondary Intestinal Lymphangiectasia
Intestinal obstruction, Cirrhosis, Intestinal lymphedema, Chronic diarrhea, Abdominal colic, Decr... ORPHA:90363
Hypotonia-Cystinuria Syndrome
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Lactic acido... OMIM:606407
Eosinophilic Granulomatosis With Polyangiitis
Intestinal obstruction, Purpura, Glomerulopathy, Hematuria, Gastroesophageal reflux, Abdominal pa... ORPHA:183
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Glutaric aciduria, Hepatomegaly, Metabolic acidosis, Anemia, Increased level of hippuric acid in ... OMIM:246450
Hyperparathyroidism 2 With Jaw Tumors
Parathyroid carcinoma, Renal cortical adenoma, Polycystic kidney dysplasia, Recurrent pancreatiti... OMIM:145001
Fructose Intolerance, Hereditary
Bicarbonaturia, Gastrointestinal hemorrhage, Lactic acidosis, Metabolic acidosis, Jaundice, Cirrh... OMIM:229600
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Hemolytic-uremic syndrome, Diarrhea, Anuria, Hypertension, Hyperlipidemia, R... OMIM:235400
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Intermittent diarrhea, Gastroparesis, Intestinal pseudo-obstruction, Cachexia, Dysphagia, Early s... OMIM:603041
Glycogen Storage Disease Xi
Myoglobinuria, Increased serum pyruvate, Elevated circulating creatine kinase concentration, Incr... OMIM:612933
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Dicarboxylic aciduria, Diarrhea, Cachexia, Elevated circu... ORPHA:42
Glut1 Deficiency Syndrome 2
Reduced haptoglobin level, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612126
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Hydrops fetalis, Hyperbilirubinemia, Macrocytic dyserythropoietic anemia, Anemia of... OMIM:224120
Isovaleric Acidemia
Cerebellar hemorrhage, Metabolic acidosis, Pancytopenia, Hyperglycinuria, Dehydration, Vomiting, ... OMIM:243500
Acute Intermittent Porphyria
Elevated urinary delta-aminolevulinic acid, Abdominal distention, Urinary incontinence, Increased... ORPHA:79276
Schimke Immuno-Osseous Dysplasia
Abnormal femoral head morphology, Hypertension, Hyperlipidemia, Cerebral ischemia, Corneal opacit... ORPHA:1830
Hereditary Pheochromocytoma-Paraganglioma
Episodic hyperhidrosis, Aniridia, Sinus tachycardia, Elevated urinary epinephrine level, Elevated... ORPHA:29072
Delayed puberty, Rickets, Hypokalemia, Nephropathy, Corneal opacity, Portal hypertension, Nephrog... ORPHA:213
3-Methylglutaconic Aciduria Type 4
3-Methylglutaconic aciduria, Lactic acidosis, Cardiomyopathy, Iris hypopigmentation, Thrombocytop... ORPHA:67048
Secondary Short Bowel Syndrome
Steatorrhea, Primary hypothyroidism, Cholestasis, Abnormal blood ion concentration, Abnormal smal... ORPHA:95427
Immunodeficiency 104
Hepatomegaly, Lymphadenopathy, Failure to thrive secondary to recurrent infections, Gastroesophag... OMIM:608971
Multiple Myeloma
Osteopenia, Acute kidney injury, Anemia, Lymphadenopathy, Abnormality of the bladder, Functional ... ORPHA:29073
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Renal salt wasting, Abnormal circulating renin, Congenital hypothyroidism, Precocio... OMIM:614736
Lowe Oculocerebrorenal Syndrome
Renal Fanconi syndrome, Stage 5 chronic kidney disease, Hip dislocation, Rickets, Corneal scarrin... OMIM:309000
Hypocalciuric Hypercalcemia, Familial, Type Iii
Peptic ulcer, Hypermagnesemia, Pancreatitis, Hypocalciuria, Parathormone-independent increased re... OMIM:600740
Sulfite Oxidase Deficiency, Isolated
Metabolic acidosis, Episodic vomiting, Decreased urinary sulfate, Elevated circulating creatine k... OMIM:272300
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, 3-Methylglutaconic aciduria, Splenomegaly OMIM:619813
Neuroleptic Malignant Syndrome
Urinary incontinence, Myoglobinuria, Hyperhidrosis, Dysphagia, Acute kidney injury, Metabolic aci... ORPHA:94093
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Astigmatism, Hypercalciuria, Recurrent urinary tract infections, Nephrolithiasis, Hypermagnesiuri... OMIM:248190
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol... OMIM:300908
Mitochondrial Myopathy, Infantile, Transient
Lactic acidosis, Hepatomegaly, Decreased circulating carnitine concentration, Increased serum pyr... OMIM:500009
Postnatal growth retardation, Enlarged kidney, Hepatomegaly, Hyperinsulinemia, Rectal prolapse, H... ORPHA:508
Dihydropyrimidinase Deficiency
Uraciluria, Metabolic acidosis, Elevated urinary dihydrothymine level, Elevated urinary dihydrour... OMIM:222748
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Lactic acidosis, Hydrops fetalis, Hypospadias, Bradycardia, Corneal opacity, Hypertrophic cardiom... OMIM:618815
Alagille Syndrome 1
Hypertriglyceridemia, Cholestasis, Prolonged neonatal jaundice, Short distal phalanx of finger, S... OMIM:118450
Adrenal Hypoplasia, Congenital
Renal salt wasting, Delayed puberty, Adrenal hypoplasia, Precocious puberty, Hyponatremia, Failur... OMIM:300200
Mitochondrial Complex I Deficiency, Nuclear Type 33
Lactic acidosis, Metabolic acidosis, Hypospadias, Increased circulating lactate concentration, Hy... OMIM:618253
Galactosemia Iii
Jaundice, Hepatomegaly, Galactosuria, Hypergalactosemia, Vomiting, Failure to thrive, Splenomegal... OMIM:230350
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Ragged-red muscle fib... ORPHA:457050
Hypocalcemic Vitamin D-Dependent Rickets
Generalized aminoaciduria, Femoral bowing, Cardiomyopathy, Tibial bowing, Splenomegaly, Hypophosp... ORPHA:289157
Cold Agglutinin Disease
Hepatomegaly, Lymphadenopathy, Diarrhea, Splenomegaly, Nausea and vomiting, Pallor, Abnormal urin... ORPHA:56425
Alpha-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Hypocalcemia, Ascites, Growth delay, Splenomegaly, Abnorma... ORPHA:100025
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Conj... OMIM:194380
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi... ORPHA:75564
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic aciduria, Methylmalonic acidemia, Pancreatitis, Hepatomegaly, Diarrhea, Metabolic k... OMIM:251000
Majeed Syndrome
Glomerulopathy, Hepatomegaly, Hypochromic microcytic anemia, Cachexia, Leukocytosis, Microscopic ... ORPHA:77297
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Lactic acidosis, Metabolic acidosis, Increased circulating lactate concentration ORPHA:91130
Generalized Pustular Psoriasis
Cheilitis, Elevated circulating C-reactive protein concentration, Hypocalcemia, Leukocytosis, Geo... ORPHA:247353
Laryngeal Neuroendocrine Tumor
Anorexia, Oral-pharyngeal dysphagia, Adrenocorticotropic hormone excess, Elevated circulating car... ORPHA:100083
Mitochondrial Pyruvate Carrier Deficiency
Increased serum pyruvate, Lactic acidosis, Organic aciduria, Increased circulating lactate concen... OMIM:614741
Methylmalonic Aciduria, Cbla Type
Elevated urine 3-hydroxypropionic acid level, Methylmalonic aciduria, Methylmalonic acidemia, Met... OMIM:251100
Osteochondrosis Of The Metatarsal Bone
Pedal edema, Flattened metatarsal heads, Abnormality of the third metatarsal bone, Abnormality of... ORPHA:564003
Multiple Acyl-Coa Dehydrogenase Deficiency
Cardiomyopathy, Hyperammonemia, Dysphagia, Elevated circulating acylcarnitine concentration, Lact... ORPHA:26791
Gastrointestinal Stromal Tumor
Esophageal neoplasm, Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the stomach... ORPHA:44890
Multiple Mitochondrial Dysfunctions Syndrome 3
Beta-aminoisobutyric aciduria, Lactic acidosis, Elevated lactate:pyruvate ratio, Metabolic acidos... OMIM:615330
Skin ulcer, Abnormality of iron homeostasis, Hepatomegaly, Cholelithiasis, Anemia, Thrombocytopen... ORPHA:848
Diabetes Mellitus, Ketosis-Prone
Ketoacidosis OMIM:612227
Marburg Hemorrhagic Fever
Bradycardia, Reticulocytosis, Pericarditis, Hyperammonemia, Leukopenia, Lymphopenia, Elevated cir... ORPHA:99826
Familial Hyperaldosteronism Type Ii
Hypokalemia, Abnormal circulating renin, Hypertension, Glucocortocoid-insensitive primary hyperal... ORPHA:404
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia, Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Congenital hypoparathyroidism, Hypercalciuria, Hypocalcemia, Hypomagnesemi... ORPHA:2239
Autosomal Recessive Polycystic Kidney Disease
Enlarged kidney, Gastrointestinal hemorrhage, Cholestasis, Ascites, Biliary hyperplasia, Splenome... ORPHA:731
Lipoyltransferase 1 Deficiency
Lactic acidosis, Increased circulating lactate concentration, Increased total bilirubin, Hyperpro... OMIM:616299
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Acute kidney injury, Exercise-induced myoglobinuria, Elevated creatine kinase after exercise, Exe... ORPHA:284426
Pyruvate Dehydrogenase E3 Deficiency
Lactic acidosis, Hepatomegaly, Decreased circulating carnitine concentration, Hyperisoleucinemia,... ORPHA:2394
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Osteopenia, High, narrow palate, Astigmatism, Hypoparathyroidism, Congenita... ORPHA:369837
Multiple Endocrine Neoplasia Type 1
Hematemesis, Duodenal ulcer, Adrenocortical abnormality, Neoplasm of the pancreas, Reduced bone m... ORPHA:652
Desmoid Tumor
Intestinal obstruction, Gastrointestinal hemorrhage, Intestinal polyposis, Abdominal pain, Abnorm... ORPHA:873
Hawkinsinuria, Metabolic acidosis, Hypertyrosinemia, 4-Hydroxyphenylpyruvic aciduria, 4-hydroxyph... OMIM:140350
Congenital Erythropoietic Porphyria
Increased urinary porphobilinogen, Increased fecal coproporphyrin 1, Purple urine, Red-brown urin... ORPHA:79277
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Renal salt wasting, Hyperaldosteronism, Adrenocorticotropic hormone excess, Adrenal insufficiency OMIM:613743
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Hypoplasia of the ulna, Osteopenia, Lambdoidal craniosynostosis, Hydroureter, Hypercalciuria, Res... OMIM:615398
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Hyperammonemia, Lactic acidosis, Elevated circulating creatine kinase concentration, Increased ci... OMIM:618416
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Lactic acidosis, Elevated lactate:pyruvate ratio, Episodic ketoacidosis, Metabolic ketoacidosis, ... OMIM:615453
Combined Oxidative Phosphorylation Deficiency 9
Elevated lactate:pyruvate ratio, Metabolic acidosis, Elevated serum anion gap, Hyperalaninemia, I... OMIM:614582
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Hypercalciuria, Medullary nephrocalcinosis, Radial bowing OMIM:617993
Lactic Acidosis, Chronic Adult Form
Chronic lactic acidosis OMIM:150170
Combined Malonic And Methylmalonic Acidemia
Intermittent diarrhea, Methylmalonic acidemia, Dicarboxylic aciduria, Dehydration, Vomiting, Acid... ORPHA:289504
Hyperparathyroidism-Jaw Tumor Syndrome
Nephrocalcinosis, Parathyroid adenoma, Hypophosphatemia, Dysphagia, Thyroid carcinoma, Nephrolith... ORPHA:99880
Methylmalonic Aciduria, Cblb Type
Elevated circulating methylmalonylcarnitine concentration, Hyperglycinemia, Methylmalonic acidemi... OMIM:251110
Intellectual Developmental Disorder, Autosomal Dominant 70
Retrognathia, Mandibular prognathia, Hypoplasia of the maxilla, Hyponatremia, Micrognathia, Failu... OMIM:620157
X-Linked Creatine Transporter Deficiency
Aganglionic megacolon, Cachexia, Redundant skin, Constipation, Short stature, Malar flattening, O... ORPHA:52503
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Metabolic acidosis, Anemia, Lymphadenopathy, Chronic diarrhea, Abdominal pain, Hypo... OMIM:615895
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Intestinal obstruction, Impaired lymphocyte transformation with phytohemagglutinin, Absent periph... OMIM:600802
Combined Oxidative Phosphorylation Deficiency 30
Decreased liver function, Lactic acidosis, Elevated lactate:pyruvate ratio, Gastroesophageal refl... OMIM:616974
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Neutropenia OMIM:616949
Liddle Syndrome 1
Hypokalemic alkalosis, Hypokalemia, Decreased circulating renin level, Hypertension, Decreased ci... OMIM:177200
Pyridoxal Phosphate-Responsive Seizures
Abnormal circulating histidine concentration, Metabolic acidosis, Abnormal circulating threonine ... ORPHA:79096
Anisopoikilocytosis, Hemoglobin Barts, Congestive heart failure, Jaundice, Anemia, Hydrops fetali... ORPHA:846
Ring Chromosome 10 Syndrome
Thin vermilion border, Renal hypoplasia/aplasia, Aganglionic megacolon, Hypocalcemia, Cachexia, M... ORPHA:1438
Combined Oxidative Phosphorylation Deficiency 10
Lactic acidosis, Metabolic acidosis, Hyperalaninemia, Ascites, Intrauterine growth retardation, I... OMIM:614702
Mitochondrial Complex I Deficiency, Nuclear Type 30
Metabolic acidosis OMIM:301021
Parathyroid Carcinoma
Nephrocalcinosis, Hypophosphatemia, Dysphagia, Thyroid carcinoma, Nephrolithiasis, Primary hyperp... ORPHA:143
Postnatal growth retardation, Retrognathia, Abnormality of the kidney, Jaundice, Excessive wrinkl... ORPHA:79333
Neonatal Severe Primary Hyperparathyroidism
Abnormal metaphysis morphology, Abnormal circulating calcium-phosphate regulating hormone concent... ORPHA:417
Carbamoyl-Phosphate Synthetase 1 Deficiency
Hyperammonemia, Episodic ammonia intoxication, Aminoaciduria, Hypoargininemia ORPHA:147
Renpenning Syndrome
High, narrow palate, Hypospadias, Short philtrum, Cachexia, Mandibular prognathia, Narrow mouth, ... ORPHA:3242
Glucose-Galactose Malabsorption
Hematuria, Diarrhea, Dehydration, Nephrolithiasis, Vomiting, Hypernatremia, Osmotic diarrhea, Hyp... ORPHA:35710
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Anemia, Decreased transferrin saturation, Reticulocytopenia, Abnormality of ... ORPHA:300298
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Lactic acidosis, Ragged-red muscle fibers, Facial diplegia, Elevated circulating creatine kinase ... OMIM:609560
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Anemia, Melena, Increased mean corpuscular volume, Hyperbi... ORPHA:98870
Cardiomyopathy, Dilated, 2C
Increased circulating lactate concentration OMIM:618189
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Pseudohypoaldosteronism, Type Iic
Hyperkalemia, Decreased serum bicarbonate concentration, Metabolic acidosis, Decreased circulatin... OMIM:614492
Mulibrey Nanism
Short stature, Cachexia, Hepatomegaly, Intrauterine growth retardation ORPHA:2576
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Lactic acidosis, Organic aciduria, Neonatal death, Hypertrophic cardiomyopathy OMIM:617184
3-Hydroxy-3-Methylglutaric Aciduria
Anorexia, Jaundice, Metabolic acidosis, Anemia, Hepatomegaly, Hyperuricemia, Episodic vomiting, D... ORPHA:20
Ectopic Aldosterone-Producing Tumor
Renal cortical adenoma, Hypokalemia, Decreased circulating renin level, Hypertension, Glucocortoc... ORPHA:231632
Solitary Rectal Ulcer Syndrome
Intermittent diarrhea, Rectal prolapse, Anemia, Anal fissure, Abdominal pain, Bloody diarrhea, De... ORPHA:209964
Multicentric Reticulohistiocytosis
Cachexia, Histiocytosis ORPHA:139436
Focal Segmental Glomerulosclerosis 1
Anemia, Hypertension, Hyperlipidemia, Ascites, Focal segmental glomerulosclerosis, Pleural effusi... OMIM:603278
Autoinflammation With Infantile Enterocolitis
Anemia, Elevated circulating C-reactive protein concentration, Pancytopenia, Episodic vomiting, S... OMIM:616050
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Hepatomegaly, Choleli... OMIM:266200
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia, Failure to thrive, Feeding difficulties OMIM:143860
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal tubular epithelial necrosis, Decreased glomerular filtration rate, Normochromic anemia, Cys... ORPHA:91500
Hypospadias, Short philtrum, Gastroesophageal reflux, B lymphocytopenia, Redundant skin, Intestin... ORPHA:79324
Refractory Celiac Disease
Malnutrition, Normocytic anemia, Protein-losing enteropathy, Iron deficiency anemia, Macrocytic a... ORPHA:398063
Hypercalciuria, Absorptive, 2
Hypercalciuria, Calcium oxalate nephrolithiasis OMIM:143870
Hypocalciuric Hypercalcemia, Familial, Type Ii
Peptic ulcer, Hypermagnesemia, Pancreatitis, Hypocalciuria, Parathormone-independent increased re... OMIM:145981
Hyperaldosteronism, Familial, Type I
Decreased circulating renin level, Hypertension, Adrenal hyperplasia, Adrenogenital syndrome, Hyp... OMIM:103900
Hyperlysinuria With Hyperammonemia
Hyperlysinuria, Hyperammonemia, Dibasicaminoaciduria, Hyperlysinemia OMIM:238750
Combined Oxidative Phosphorylation Deficiency 5
Abnormal renal tubule morphology, Lactic acidosis, Metabolic acidosis, Ascites, Hypertrophic card... OMIM:611719
Combined Oxidative Phosphorylation Deficiency 8
Congestive heart failure, Lactic acidosis, Metabolic acidosis, Reduced left ventricular ejection ... OMIM:614096
Granulomatosis With Polyangiitis
Intestinal obstruction, Gastrointestinal hemorrhage, Ureteral stenosis, Sinusitis, Nausea and vom... ORPHA:900
Combined Oxidative Phosphorylation Deficiency 18
Lactic acidosis, Macrocytic anemia, Hypersegmentation of neutrophil nuclei, Increased circulating... OMIM:615578
Pheochromocytoma--Islet Cell Tumor Syndrome
Congestive heart failure, Pheochromocytoma, Episodic hypertension, Elevated urinary norepinephrin... OMIM:171420
Lcat Deficiency
Hypertriglyceridemia, Acute kidney injury, Decreased HDL cholesterol concentration, Decreased glo... ORPHA:650
Pseudohypoparathyroidism Type 1B
Decreased response to growth hormone stimulation test, Elevated circulating parathyroid hormone l... ORPHA:94089
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Elevated urinary aminoisobutyric acid, Methylmalonic acidemia, Metabolic acidosis, Beta-alaninuri... OMIM:614105
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy
Increased circulating lactate concentration OMIM:619196
Immunodeficiency 114, Folate-Responsive
Hypertriglyceridemia, Postnatal growth retardation, Skin ulcer, Hepatomegaly, Chronic diarrhea, M... OMIM:620603
Combined Oxidative Phosphorylation Deficiency 4
Hyperammonemia, Lactic acidosis, Metabolic acidosis, Increased circulating lactate concentration OMIM:610678
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Rickets, Hepatomegaly, Metabolic acidosis, Hypouricemia, Short stature, Glycosuria, Hyperphosphat... OMIM:616026
Malonyl-Coa Decarboxylase Deficiency
Lactic acidosis, Metabolic acidosis, Diarrhea, Elevated urine suberic acid level, Left ventricula... OMIM:248360
Variegate Porphyria
Elevated urinary delta-aminolevulinic acid, Increased fecal protoporphyrin concentration, Increas... OMIM:176200
Hereditary Folate Malabsorption
Anorexia, Cheilitis, Gastroesophageal reflux, Pancytopenia, Glossitis, Recurrent urinary tract in... ORPHA:90045
Increased T cell count, Nephrocalcinosis, Leukopenia, Abnormal conjunctiva morphology, Diabetes i... ORPHA:797
Mitochondrial Complex I Deficiency, Nuclear Type 26
Elevated lactate:pyruvate ratio, Metabolic acidosis, Limb hypertonia, Distal amyotrophy, Increase... OMIM:618247
Pseudohypoparathyroidism, Type Ic
Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating parathyroid ... OMIM:612462
Nephrogenic Diabetes Insipidus
Anorexia, Hydroureter, Hyposthenuria, Enuresis nocturna, Nephrogenic diabetes insipidus, Function... ORPHA:223
Isolated Atp Synthase Deficiency
3-Methylglutaconic aciduria, Hepatomegaly, Lactic acidosis, Hyperalaninemia, Hypertrophic cardiom... ORPHA:254913
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hepatomegaly, Metabolic acidosis, Decreased circulating carnitine concentration, Vomiting, Failur... OMIM:618235
Combined Oxidative Phosphorylation Deficiency 47
Hepatomegaly, Metabolic acidosis, Dehydration, Increased circulating lactate concentration, Short... OMIM:618958
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Esophageal neoplasm, Gastrointestinal hemorrhage, Hepatomegaly, Abnormal esophagus physiology, Ga... ORPHA:2198
Hyperinsulinism Due To Hnf1A Deficiency
Large for gestational age, Hepatomegaly, Episodic hyperhidrosis, Hyperinsulinemia, Maturity-onset... ORPHA:324575
Coenzyme Q10 Deficiency, Primary, 1
Lactic acidosis, Anemia, Glomerular sclerosis, Pancytopenia, Recurrent myoglobinuria, Episodic vo... OMIM:607426
Myopathy With Lactic Acidosis, Hereditary
Lactic acidosis, Anemia, Myoglobinuria, Elevated circulating creatine kinase concentration, Incre... OMIM:255125
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso... ORPHA:3226
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rickets, Short stature, Glycosuria, Cataract, Stage 5 chronic kidney disease, Renal Fanconi syndrome OMIM:268315
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Myoglobinuria, Increased serum pyruvate, Elevated circulating creatine kinase concentration, Incr... ORPHA:2364
Combined Oxidative Phosphorylation Deficiency 1
Hepatomegaly, Elevated lactate:pyruvate ratio, Metabolic acidosis, Cholestasis, Increased circula... OMIM:609060
Hypophosphatemic Rickets, X-Linked Dominant
Femoral bowing, Tibial bowing, Hypophosphatemia, Metaphyseal irregularity, Rickets, Fibular bowin... OMIM:307800
Sickle Cell Anemia
Reticulocytosis, Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, ... ORPHA:232
Paget Disease Of Bone 2, Early-Onset
Osteosclerosis of the ulna, Femoral bowing, Fractures of the long bones, Bowing of the long bones... OMIM:602080
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Renal salt wasting, Increased circulating androstenedione concentration, Isosexual precocious pub... ORPHA:90795
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Intestinal obstruction, Lymphadenopathy, Elevated circulating C-reactive protein concentration, D... ORPHA:32960
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Hyperglycinemia, Lactic acidosis, Anemia, Hyperglutamatemia, Oroticaciduria, Chronic diarrhea, Hy... OMIM:620358
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Hepatomegaly, Episodic hyperhidrosis, Diffuse pancreatic islet hyperpl... ORPHA:276575
Immunodeficiency 69
Anemia, Hemophagocytosis, Thrombocytosis, Pancytopenia, Diarrhea, Leukocytosis, Failure to thrive... OMIM:618963
Beckwith-Wiedemann Syndrome
Congenital diaphragmatic hernia, Enlarged kidney, Ureteral duplication, Rhabdomyosarcoma, Large i... ORPHA:116
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Lactic acidosis, Methylmalonic acidemia, Gastroesophageal reflux, Elevated circulating creatine k... OMIM:612073
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Rocker bottom foot, Corneal opacity, Pulmonic stenosis, Leukopenia, Intrauterine growth retardati... OMIM:301056
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Bence Jones Proteinuria, Splenomegaly, Abnormal B cell cou... ORPHA:100024
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Mixed respiratory and metabolic acidosis, Myoglobinuria, Elevated circulating creat... OMIM:145600
Trimethylaminuria, Anemia, Hypertension, Splenomegaly, Tachycardia, Neutropenia OMIM:602079
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Pancreatitis, Hypocalciuria, Hypercalciuria, Nephrolithiasis, Parathyroid adenom... OMIM:145980
Plummer-Vinson Syndrome
Cheilitis, Hypochromic microcytic anemia, Iron deficiency anemia, Glossitis, Abdominal pain, Intr... ORPHA:54028
Waardenburg-Shah Syndrome
Intestinal obstruction, Aganglionic megacolon, Abdominal pain, Abnormal intestine morphology, Con... ORPHA:897
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Tubulointerstitial fibrosis, Glycosuria, Proteinuria, Hypophosphatemia,... OMIM:618913
Mitochondrial Myopathy And Sideroblastic Anemia
Delayed puberty, Lactic acidosis, Anemia, High palate, Micrognathia, Long philtrum ORPHA:2598
Diencephalic Syndrome
Long penis, Cachexia, Decreased body weight, Everted lower lip vermilion, Abnormality of the hypo... ORPHA:1672
Mitochondrial Complex I Deficiency, Nuclear Type 23
Increased circulating lactate concentration OMIM:618244
Mitochondrial Complex I Deficiency, Nuclear Type 15
Metabolic acidosis, Hypertrophic cardiomyopathy, Increased circulating lactate concentration, Neo... OMIM:618237
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice, Anemia, Reticulocytosis, Methemoglobinemia OMIM:613977
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Broad distal phalanx of finger, Anemia, Clinodactyly of the 5th finger, Polyhydramnios, Cleft har... OMIM:300990
Fibrous Dysplasia Of Bone
Abnormal femur morphology, Precocious puberty in females, Abnormality of the endocrine system, Hy... ORPHA:249
Infantile Sialic Acid Storage Disease
Osteopenia, Congestive heart failure, Hepatomegaly, Hydrops fetalis, Vacuolated lymphocytes, High... OMIM:269920
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
3-Methylglutaconic aciduria, Hepatomegaly, Lactic acidosis, Myoglobinuria, Lower limb muscle weak... OMIM:251900
Mitochondrial Complex I Deficiency, Nuclear Type 5
Hepatomegaly, Lactic acidosis, Metabolic acidosis, Episodic vomiting, Increased circulating lacta... OMIM:618226
Laryngotracheoesophageal Cleft Type 4
Cachexia, Tracheoesophageal fistula, Abnormal mesentery morphology, Abnormality of the spleen, In... ORPHA:93941
Mitochondrial Complex I Deficiency, Nuclear Type 11
Congestive heart failure, Lactic acidosis, Metabolic acidosis, Wolff-Parkinson-White syndrome, Ma... OMIM:618234
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Acute kidney injury, Glomerulopathy, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of... ORPHA:93111
Weismann-Netter Syndrome
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Anemia, Abnorma... ORPHA:3344
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anorexia, Hepatomegaly, Pancreatitis, Anemia, Abdominal pain, Hyperammonemia, Failure to thrive, ... ORPHA:79312
Congenital Short Bowel Syndrome
Abdominal distention, Steatorrhea, Metabolic acidosis, Projectile vomiting, Chronic diarrhea, Abn... OMIM:615237
Fabry Disease
Delayed puberty, Abnormal circulating lipid concentration, Abnormal femur morphology, Reduced bon... ORPHA:324
Juvenile Polyposis Of Infancy
High, narrow palate, Gastrointestinal hemorrhage, Anemia, Rectal prolapse, Protein-losing enterop... ORPHA:79076
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Unilateral renal dysplasia, Hematuria, Nephrotic syndrome, Thickened glomerul... OMIM:146255
Dihydrolipoamide Dehydrogenase Deficiency
Decreased liver function, Lactic acidosis, Metabolic acidosis, Hepatomegaly, Increased serum pyru... OMIM:246900
Mcdonough Syndrome
Abnormal palate morphology, Short philtrum, Cachexia, Mandibular prognathia, Open bite, Short sta... ORPHA:2471
Acyl-Coa Dehydrogenase 9 Deficiency
Congestive heart failure, Cerebellar hemorrhage, Lactic acidosis, Dicarboxylic aciduria, Decrease... ORPHA:99901
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Iron deficiency anemia, Hypocalcemia, Growth delay, Hyperphosphaturia, Hypophosphatemia,... ORPHA:89937
Pituitary Apoplexy
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Hypopituitaris... ORPHA:95613
Pseudohypoaldosteronism, Type Iie
Hyperkalemia, Hyperchloremic metabolic acidosis, Metabolic acidosis, Hyperchloremia OMIM:614496
Hypophosphatemic Rickets And Hyperparathyroidism
Rickets, Elevated circulating parathyroid hormone level, Hypophosphatemic rickets, Renal phosphat... OMIM:612089
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Chronic diarrhea, Failure to thrive, Thrombocytopenia, Spl... OMIM:615285
Triokinase And Fmn Cyclase Deficiency Syndrome
Lactic acidosis, Pancreatitis, Hepatomegaly, Chronic diarrhea, Failure to thrive in infancy, Hypo... OMIM:618805
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Precocious puberty in females, Elevated urin... ORPHA:90794
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia, Coxa valga OMIM:191420
Glutathione Synthetase Deficiency
Chronic metabolic acidosis, Increased level of L-pyroglutamic acid in urine, Hemolytic anemia, Ne... OMIM:266130
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hypomethioninemia, Neutropenia, Acute kidney injury, Metabolic acidosis, Hemolytic-uremic syndrom... OMIM:277400
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hepatomegaly, Metabolic acidosis, High palate, Hypertrophic cardiomyopathy, Increased circulating... OMIM:619053
Primary Hyperoxaluria Type 1
Calcinosis, Hematuria, Metabolic acidosis, Decreased glomerular filtration rate, Recurrent urinar... ORPHA:93598
Hsd10 Disease, Infantile Type
Lactic acidosis, Metabolic acidosis, Hypertrophic cardiomyopathy, Increased circulating lactate c... ORPHA:391428
Combined Oxidative Phosphorylation Deficiency 33
Lactic acidosis, Hepatomegaly, Astigmatism, Cardiac arrest, Cardiomyopathy, Elevated circulating ... OMIM:617713
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Reduced erythrocyte gamma-glutamyl cysteine synthetase activity, Myopathy, Hemolytic anemia, Reti... OMIM:230450
Chromosome 14Q11-Q22 Deletion Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Hip subluxation, Gastroesophageal... OMIM:613457
Lysinuric Protein Intolerance
Cutis laxa, Hyperammonemia, Leukopenia, Splenomegaly, Stage 5 chronic kidney disease, Protein avo... OMIM:222700
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Delayed puberty, 3-Methylglutaconic aciduria, Lower limb amyotrophy, Corneal opacity, Hypertrophi... ORPHA:496790
Autosomal Dominant Hypocalcemia
Congestive heart failure, Reduced bone mineral density, Hypercalciuria, Hypocalcemia, Hypotension... ORPHA:428
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Subperiosteal bone resorption, Rickets, Elevated circulating parathyroid hormone level, Hypocalce... OMIM:264700
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Corneal opacity, Thrombocytopenia, Abnormality of the liver, Intrauterine growth re... ORPHA:1980
Glycogen Storage Disease Ib
Delayed puberty, Xanthelasma, Enlarged kidney, Lactic acidosis, Pancreatitis, Hepatomegaly, Decre... OMIM:232220
Cerebral Creatine Deficiency Syndrome 1
Aganglionic megacolon, Elevated circulating creatine concentration, Mandibular prognathia, Elevat... OMIM:300352
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia, Hepatomegaly, Vomiting, Failure to thrive, Short stature, Splenomegaly, Hep... OMIM:614480
Mitochondrial Complex I Deficiency, Nuclear Type 39
Lactic acidosis, Anemia, Hypospadias, Hypertrophic cardiomyopathy, Cardiomegaly, Oligohydramnios,... OMIM:620135
Combined Oxidative Phosphorylation Deficiency 3
Lactic acidosis, Elevated lactate:pyruvate ratio, Hepatomegaly, Poor suck, Elevated circulating c... OMIM:610505
Spasticity, Childhood-Onset, With Hyperglycinemia
Increased circulating lactate concentration OMIM:616859
Small Cell Carcinoma Of The Bladder
Hypercalcemia, Recurrent urinary tract infections, Dysuria, Hematuria ORPHA:284400
Herpes Simplex Virus Encephalitis
Elevated circulating C-reactive protein concentration, Leukocytosis, Hyponatremia, Neutrophilia, ... ORPHA:1930
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Hypoadrenocorticism, Familial
Hyperkalemia, Adrenal hypoplasia, Vomiting, Hyponatremia, Feeding difficulties in infancy, Adrena... OMIM:240200
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency