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Gene: Slc26a7 MGI:2384791

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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 26, member 7
Synonyms:
N/A

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Slc26a7 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Slc26a7 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Thyroid Hormone Metabolism, Abnormal, 3
Increased circulating free T4 concentration, Elevated circulating reverse T3 concentration, Decre... OMIM:620198
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Increased circulating free T4 concentration, Increased circulating thyroglobulin level, Increased... OMIM:188570
Thyroid Hormone Metabolism, Abnormal, 1
Increased circulating free T4 concentration, Elevated circulating thyroid-stimulating hormone con... OMIM:609698
Thyroid Dyshormonogenesis 2A
Decreased circulating T4 concentration, Hypothyroidism, Thyroid defect in oxidation and organific... OMIM:274500
Thyroid Dyshormonogenesis 3
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter OMIM:274700
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hyperparathyroidism, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Renal tubular acidosis, Vom... OMIM:239199
Hyperthyroxinemia, Familial Dysalbuminemic
Euthyroid hyperthyroxinemia, Increased circulating free T4 concentration OMIM:615999
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Glutaric Aciduria Iii
Hyperthyroidism, Glutaric aciduria, Diarrhea, Vomiting, Goiter OMIM:231690
Pendred Syndrome
Increased circulating thyroglobulin level, Compensated hypothyroidism, Thyroid carcinoma, Goiter OMIM:274600
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... OMIM:614723
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Conjugated hyperb... ORPHA:95715
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, El... ORPHA:95716
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased circulating free T4 concentration, Diabetes mellitus, Elevated circulating thyroid-stim... OMIM:274300
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth... OMIM:613239
Hawkinsinuria
4-hydroxyphenylacetic aciduria, Abnormal circulating tyrosine concentration, 4-Hydroxyphenylpyruv... ORPHA:2118
Hypothyroidism, Congenital, Nongoitrous, 1
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi... OMIM:275200
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Goiter, Papillary renal cell carcinoma, Papillary thyroid carcinoma, Nodular goiter, Renal oncocy... ORPHA:97290
Thyrocerebrorenal Syndrome
Renal insufficiency, Euthyroid goiter, Nephritis ORPHA:3327
Familial Papillary Or Follicular Thyroid Carcinoma
Follicular thyroid carcinoma, Papillary renal cell carcinoma, Papillary thyroid carcinoma, Nodula... ORPHA:319487
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism OMIM:228355
Thyroid Cancer, Nonmedullary, 1
Papillary thyroid carcinoma, Non-medullary thyroid carcinoma, Goiter OMIM:188550
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Increas... OMIM:275000
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia, Multinodular goiter ORPHA:2091
Deiodinase, iodothyronine, type I
Euthyroid hyperthyroxinemia, Goiter OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Euthyroid hyperthyroxinemia, Goiter OMIM:188560
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Hyperamylasemia, Impaired renal tubular reabsorption of bicarbonate, Bicarbonate-wasting renal tu... OMIM:604278
Hypothyroidism, Congenital, Nongoitrous, 8
Inappropriately normal thyroid-stimulating hormone level, Central hypothyroidism, Decreased circu... OMIM:301033
Pendred Syndrome
Hyperparathyroidism, Thyroid carcinoma, Nephropathy, Hypothyroidism, Goiter ORPHA:705
Thyrocerebroretinal Syndrome
Nephritis, Goiter OMIM:274240
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma, Multinodular goiter, Nephroblastoma, Thyroid nodule, Goiter OMIM:180295
Hypothyroidism Due To Tsh Receptor Mutations
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, Goiter, Elevated circulat... ORPHA:90673
Wolfram-Like Syndrome
Diabetes mellitus, Abnormality of the upper urinary tract, Primary gonadal insufficiency, Delayed... ORPHA:411590
Pituitary Dwarfism With Large Sella Turcica
Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:262710
Thyroid Dyshormonogenesis 6
Hypothyroidism, Congenital hypothyroidism OMIM:607200
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Euthyroid multinodular goiter, Papillary thyroid carcinoma OMIM:138800
Hypomagnesemia 3, Renal
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... OMIM:248250
Thyroid Dyshormonogenesis 1
Constipation, Hypothyroidism, Goiter OMIM:274400
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone con... ORPHA:99832
Familial Hypoaldosteronism
Hyponatremia, Decreased urinary potassium, Renal salt wasting, Diarrhea, Hyperkalemia, Proximal r... ORPHA:427
Renal Tubular Acidosis, Proximal
Hyperchloremic acidosis, Renal tubular acidosis, Proximal renal tubular acidosis OMIM:179830
Hyperthyroidism, Nonautoimmune
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating thyroglobulin... OMIM:609152
Pituitary Hormone Deficiency, Combined, 4
Hypothyroidism, Adrenal insufficiency, Impaired growth-hormone response to insulin stimulation test OMIM:262700
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... ORPHA:976
Thyroid Cancer, Nonmedullary, 4
Ovarian neoplasm, Papillary thyroid carcinoma, Goiter OMIM:616534
Genetic Transient Congenital Hypothyroidism
Increased circulating thyroglobulin level, Abnormal radioactive iodine uptake test result, Thyroi... ORPHA:226316
Testicular Anomalies With Or Without Congenital Heart Disease
Corpus cavernosum hypoplasia, Abnormality of thyroid physiology, Cryptorchidism, Testicular dysge... OMIM:615542
Transient Neonatal Diabetes Mellitus
Abnormality of the kidney, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Proteinuria, Nephrogenic diabetes insipidus, Conjugated hyperbilirubinemia, Nephrocalcinosis, Ren... OMIM:613404
Renal Hypoplasia, Bilateral
Hyponatremia, Proteinuria, Cryptorchidism, Chronic kidney disease, Hyperkalemia, Oliguria, Renal ... ORPHA:97362
Hyperthyroxinemia, Dystransthyretinemic
Euthyroid hyperthyroxinemia OMIM:145680
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Proteinuria, Metabolic ketoacidosis, Abnormal circulating fatty-acid concentration, Diarrhea, Hyp... ORPHA:263455
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypercalciuria, Nephrocalcinosis, Metabolic acidosis, Hypokalemia, Vomiting, Distal renal tubular... OMIM:602722
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Panhypopituitarism, Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:300123
Multiple Endocrine Neoplasia, Type Iia
Hyperparathyroidism, Thyroid C cell hyperplasia, Elevated urinary norepinephrine level, Elevated ... OMIM:171400
Thyroid Lymphoma
Hyperthyroidism, Dysphagia, Hypothyroidism, Hashimoto thyroiditis, Goiter ORPHA:97285
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormality of thyroid physiology, Abnormal blood ion concentration, Abnormal ... ORPHA:411629
Juvenile Nephropathic Cystinosis
Aminoaciduria, Renal Fanconi syndrome, Vomiting, Hypocalcemia, Low-molecular-weight proteinuria, ... ORPHA:411634
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation
Elevated circulating creatine kinase concentration, Increased serum lactate, Chronic kidney disea... ORPHA:324525
Medullary Sponge Kidney
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria ORPHA:1309
Hypouricemia, Renal, 1
Proteinuria, Hypouricemia, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricos... OMIM:220150
Kearns-Sayre Syndrome
Hypoparathyroidism, Diabetes mellitus, Primary adrenal insufficiency, Lactic acidosis, Renal tubu... OMIM:530000
Hypothyroidism, Central, With Testicular Enlargement
Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Inappropriately normal t... OMIM:300888
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Hyperammonemia,... OMIM:620211
Pyruvate Carboxylase Deficiency
Increased serum pyruvate, Increased serum lactate, Proximal renal tubular acidosis, Lactic acidos... OMIM:266150
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Consti... ORPHA:226313
Fetal Iodine Syndrome
Hypothyroidism ORPHA:1910
Fanconi-Bickel Syndrome
Hyperphosphaturia, Diabetes mellitus, Hypertriglyceridemia, Hypercalciuria, Generalized aminoacid... ORPHA:2088
Ascher Syndrome
Hypothyroidism, Goiter ORPHA:1253
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia, Hyperthyroidism, Goiter OMIM:188580
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Decreased circulating cortisol level, Renal salt wasting, Precocious puberty, Crypt... OMIM:614736
Thyrotropin-Releasing Hormone Deficiency
Hypothalamic hypothyroidism, Constipation, Hypothyroidism OMIM:275120
Congenital Atransferrinemia
Hypothyroidism ORPHA:1195
Blepharochalasis And Double Lip
Goiter OMIM:109900
Igg4-Related Thyroid Disease
Nodular goiter, Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland... ORPHA:64744
Homozygous 11P15-P14 Deletion Syndrome
Diarrhea, Hyperinsulinemia, Generalized aminoaciduria, Renal tubular dysfunction, Vomiting OMIM:606528
Acute Monoblastic/Monocytic Leukemia
Oliguria, Central hypothyroidism ORPHA:514
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Goiter OMIM:600791
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Hyperphosphaturia, Hyperthyroidism, Macroorchidism, Elevated cir... ORPHA:562
Medullary Thyroid Carcinoma
Diarrhea, Primary hyperparathyroidism, Dysphagia, Hyperhidrosis, Pheochromocytoma, Elevated circu... ORPHA:1332
Genetic Recurrent Myoglobinuria
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka... ORPHA:99845
Aa Amyloidosis
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Chronic diarrhea, Nephrotic syndr... ORPHA:85445
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter OMIM:617175
Colchicine Poisoning
Hyponatremia, Renal insufficiency, Abnormality of acid-base homeostasis, Diarrhea, Oliguria, Abno... ORPHA:31824
Hypercalcemia, Infantile, 1
Polyuria, Decreased circulating parathyroid hormone level, Hypercalcemia, Nephrolithiasis, Hyperc... OMIM:143880
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Goiter OMIM:617577
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Proteinuria, Chronic kidney disease, Thickened glomerular basement membrane, ... OMIM:146255
Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss
Renal tubular acidosis, Nephrolithiasis OMIM:267300
Bangstad Syndrome
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Goiter OMIM:210740
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Hypogonadism, Micropenis, ... ORPHA:3363
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Hypoproteinemia, Renal insufficiency, Congenital nephrotic syndrome,... OMIM:256300
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Hypothyroidism OMIM:619647
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Stress/infection-induced lactic acidosis, Abnormal circulating carnitine concentration, Renal tub... ORPHA:431361
Renal Tubular Acidosis, Distal, 1
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... OMIM:179800
Hypothyroidism, Congenital, Nongoitrous, 9
Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l... OMIM:301035
Familial Gestational Hyperthyroidism
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Diarrhea, Activating thyroid-stimulating hor... ORPHA:99819
Hypothyroidism, Congenital, Nongoitrous, 2
Increased circulating thyroglobulin level, Thyroid agenesis, Elevated circulating thyroid-stimula... OMIM:218700
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Nephrogenic diabetes insipidus, Conjugated hyperbilirubinemia, Nephrocalcinosis, Renal tubular ac... OMIM:208085
Hypothyroidism, Congenital, Nongoitrous, 7
Decreased circulating T4 concentration, Reduced TSH response to thyrotrophin-releasing hormone st... OMIM:618573
Maffucci Syndrome
Neoplasm of the adrenal cortex, Neoplasm of the parathyroid gland, Pituitary adenoma, Ovarian neo... ORPHA:163634
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Isothenuria, Metabolic acidosis, Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis, Hy... OMIM:611590
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Diarrhea, Activating thyroid-stimulating hor... ORPHA:424
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... OMIM:262600
Carnitine Palmitoyltransferase I Deficiency
Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Diarrhea, Hyperammonem... OMIM:255120
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Increased serum lactate, Cryptorchidism, Proximal renal tubular acidosis, Lactic acidosis, Metabo... OMIM:615824
Joubert Syndrome 26
Micropenis, Panhypopituitarism, Decreased response to growth hormone stimulation test, Central hy... OMIM:616784
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Macroorchidism, Neonatal hyperbilirubinemia, Pituita... ORPHA:90674
Hypothyroidism, Congenital, Nongoitrous, 5
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... OMIM:225250
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, D... ORPHA:93111
Type 1 Diabetes Mellitus
Ketoacidosis, Diabetes mellitus, Polyuria, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Gitelman Syndrome
Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Hyperhidrosis, Tubulointers... ORPHA:358
Cystinosis
Renal insufficiency, Proteinuria, Nephrogenic diabetes insipidus, Hypophosphatemia, Renal tubular... ORPHA:213
Primary Fanconi Renotubular Syndrome
Hypouricemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa... ORPHA:3337
Galloway-Mowat Syndrome 6
Proteinuria, Decreased response to growth hormone stimulation test, Nephrotic syndrome, Focal seg... OMIM:618347
Cystinosis, Nephropathic
Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri... OMIM:219800
Reni Syndrome
Diffuse mesangial sclerosis, Hypertriglyceridemia, Proteinuria, Mesangial hypercellularity, Hypot... OMIM:617575
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... OMIM:619326
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis OMIM:610205
Anaplastic Thyroid Carcinoma
Nodular goiter, Anaplastic thyroid carcinoma, Dysphagia, Goiter ORPHA:142
Pseudohypoparathyroidism, Type Ic
Elevated circulating thyroid-stimulating hormone concentration, Pseudohypoparathyroidism, Elevate... OMIM:612462
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Hypothyroidism, Hashimoto thyroiditis, Goiter ORPHA:83601
Precocious Puberty, Central, 1
Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti... OMIM:176400
Gracile Syndrome
Increased circulating ferritin concentration, Lactic acidosis, Renal Fanconi syndrome, Elevated h... ORPHA:53693
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Increased serum lactate, Hypothyroidism, Mildly elevated creatine kinase ORPHA:663
Systemic Capillary Leak Syndrome
Renal insufficiency, Diarrhea, Oliguria, Pancreatitis, Abnormal renal tubule morphology ORPHA:188
Say Syndrome
Proximal renal tubular acidosis, Cystic renal dysplasia OMIM:181180
Pediatric-Onset Graves Disease
Puberty and gonadal disorders, Thyrotoxicosis with diffuse goiter, Increased circulating free T3,... ORPHA:525731
Hydroxykynureninuria
Metabolic acidosis, Renal tubular acidosis, Stomatitis, Abnormal circulating tryptophan concentra... ORPHA:79155
Hypothyroidism, Congenital, Nongoitrous, 4
Decreased circulating T4 concentration, Decreased thyroid-stimulating hormone level, Hypothyroidism OMIM:275100
Thyroid Hormone Resistance, Selective Pituitary
Impaired sensitivity to thyroid hormone, Hyperthyroidism, Elevated circulating thyroid-stimulatin... OMIM:145650
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Polyuria, Hypercalciuria, Metabolic acidosis, Hypokalemia, Hyperaldosteronis... OMIM:613677
Renal Tubular Acidosis Iii
Nephrocalcinosis, Hypokalemia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis OMIM:267200
Potocki-Shaffer Syndrome
Micropenis, Hypothyroidism, Nephroblastoma, Delayed puberty ORPHA:52022
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Diarrhea, Polycystic ov... ORPHA:264580
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... OMIM:612925
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Anuria, Diabetes mellitus, Nausea, Pancreatitis, Diarrhea, Secretory diarrhea, Olig... ORPHA:544482
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pancreatic endocrine tumor, Pituitary gonadotropic cell ade... ORPHA:652
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Diarrhea, Peritonitis, Oliguria... ORPHA:727
Alstrom Syndrome
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Hypergonadotr... OMIM:203800
Congenital Macroglossia
Hypothyroidism ORPHA:2430
Combined Oxidative Phosphorylation Deficiency 11
Renal insufficiency, Increased serum lactate, Renal hypoplasia, Renal cyst, Lactic acidosis, Rena... OMIM:614922
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Polyuria, Cryptorchidism, Elevated circulating thyroid-stimul... OMIM:618183
Cowden Syndrome 5
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Go... OMIM:615108
Gne Myopathy
Hypothyroidism, Mildly elevated creatine kinase ORPHA:602
Developmental And Epileptic Encephalopathy 90
Fetal pyelectasis, Hypothyroidism, Constipation OMIM:301058
Hemorrhagic Fever-Renal Syndrome
Anuria, Proteinuria, Glomerulonephritis, Nausea, Hematemesis, Diarrhea, Chronic kidney disease, E... ORPHA:340
Carnitine Palmitoyl Transferase 1A Deficiency
Renal tubular acidosis, Transient hyperlipidemia ORPHA:156
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612926
Athyreosis
Thyroid agenesis, Constipation, Hypothyroidism ORPHA:95713
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Increased serum lacta... OMIM:613845
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612924
Combined Oxidative Phosphorylation Deficiency 55
Stage 3 chronic kidney disease, Elevated circulating creatine kinase concentration, Increased ser... OMIM:619743
Multiple Endocrine Neoplasia, Type Iib
Diarrhea, Elevated urinary epinephrine level, Pheochromocytoma, Constipation, Elevated circulatin... OMIM:162300
Cowden Syndrome 6
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Go... OMIM:615109
Bartter Syndrome, Type 3
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Hypokalemic metabolic alkalos... OMIM:607364
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Hyponatremia, Recurrent urinary tract... ORPHA:361
Lujo Hemorrhagic Fever
Renal insufficiency, Elevated circulating C-reactive protein concentration, Diarrhea, Oliguria, H... ORPHA:319213
Diffuse Cutaneous Systemic Sclerosis
Renal insufficiency, Xerostomia, Oliguria, Gastroesophageal reflux, Dysphagia ORPHA:220393
Hyperthyroidism, Familial Gestational
Decreased thyroid-stimulating hormone level, Increased circulating T4 concentration, Hyperthyroidism OMIM:603373
Dahlberg-Borer-Newcomer Syndrome
Hypoparathyroidism, Renal insufficiency, Hypohidrosis, Hypocalcemia, Nephropathy, Hypothyroidism ORPHA:1563
Hypothyroidism, Congenital, Nongoitrous, 6
Impaired sensitivity to thyroid hormone, Constipation, Increased T3/T4 ratio, Congenital hypothyr... OMIM:614450
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Hypertyrosinemia, Renal insufficiency, Elevated circulating alpha-fe... OMIM:276700
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Hypoalbuminemia, Congenital hypothyroidism ORPHA:88643
Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, Hypogonadism, Hyperphos... OMIM:103580
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Diarrhea, Polycystic ov... ORPHA:79240
Carnitine-Acylcarnitine Translocase Deficiency
Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Oliguria, Hyperammonemia... ORPHA:159
Intellectual Developmental Disorder, Autosomal Dominant 67
Gastroesophageal reflux, Hypothyroidism OMIM:619927
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Diarrhea, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephroli... ORPHA:47159
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Increased serum pyruvate, Renal insufficiency, Increased serum lactate, Vomiting, Mild proteinuri... OMIM:619147
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Renal insufficiency, Hypokalemic hypochloremic metabolic alkalosi... OMIM:613090
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Lactic acidosis, Aminoaciduria, Renal ... ORPHA:436271
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Abnormality of the urethra, Hypothyroidism, Hypogonadotropic hypogonadism, Cryptorchidism ORPHA:752
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Transient aminoaciduria, Hyperphosphaturia, Bicarbonaturia, Proximal... OMIM:229600
Multiple Endocrine Neoplasia Type 2
Paraganglioma of head and neck, Elevated urinary catecholamine level, Hypercalcemia, Thyroid C ce... ORPHA:653
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... OMIM:610755
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Vomiting, Male hyp... ORPHA:91347
Bamforth-Lazarus Syndrome
Thyroid agenesis, Congenital hypothyroidism OMIM:241850
Autoinflammation, Immune Dysregulation, And Eosinophilia
Nephrotic syndrome, Hypothyroidism, Colonic eosinophilia, Membranous nephropathy OMIM:618999
Galloway-Mowat Syndrome 10
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Congenital hypothyroidi... OMIM:619609
Sepsis In Premature Infants
Elevated circulating C-reactive protein concentration, Diarrhea, Oliguria, Enterocolitis, Metabol... ORPHA:90051
Mpi-Cdg
Gastrointestinal hemorrhage, Diarrhea, Vomiting, Hypoalbuminemia, Hyperinsulinemic hypoglycemia, ... ORPHA:79319
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hyperphosphaturia, Polyuria, Hypercalcemia, Primary hyperparathyroidism, Hypercalciur... OMIM:239200
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Hypokalemic alkalosis, Increased serum prostaglandin E2, Hypokalemia, Proximal tubulopathy, Incre... OMIM:241150
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Hypospadias, Increased serum lactate, Hyperammonemia, Lactic acidosis, Renal tubular acidosis, Ga... OMIM:615471
Leigh Syndrome
Increased serum lactate, Ketoacidosis, Lacticaciduria, Methylmalonic aciduria, Generalized aminoa... ORPHA:506
Isolated Atp Synthase Deficiency
Renal hypoplasia, Hyperammonemia, Lactic acidosis, 3-Methylglutaconic aciduria, Hypogonadism, Hyp... ORPHA:254913
Cowden Syndrome 1
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Thyroid adenoma,... OMIM:158350
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased circulating... ORPHA:1227
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Elevated circulating fol... OMIM:612885
Lassa Fever
Diarrhea, Oliguria, Dysphagia ORPHA:99824
Chromosome 14Q11-Q22 Deletion Syndrome
Unilateral cryptorchidism, Anterior pituitary hypoplasia, Bilateral cryptorchidism, Cryptorchidis... OMIM:613457
Rothmund-Thomson Syndrome, Type 1
Male hypogonadism, Hypothyroidism OMIM:618625
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Constipation, Hypothyroidism ORPHA:2349
Pearson Marrow-Pancreas Syndrome
Pancreatic fibrosis, Chronic diarrhea, Hypercalciuria, Lactic acidosis, Metabolic acidosis, 3-Met... OMIM:557000
Wolcott-Rallison Syndrome
Hyponatremia, Renal insufficiency, Neonatal insulin-dependent diabetes mellitus, Ketoacidosis, Ch... ORPHA:1667
Autosomal Dominant Progressive External Ophthalmoplegia
Diabetes mellitus, Hyperthyroidism, Gastroparesis, Elevated circulating creatine kinase concentra... ORPHA:254892
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Ketonuria, Elevated circulating creatine kinase concentration, Increased serum lactate, Lactic ac... OMIM:251900
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hyperphosphaturia, Proteinuria, Increased serum lactate, Renal tubular dysfunction, Lactic acidos... OMIM:220110
Allan-Herndon-Dudley Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism OMIM:300523
Hypercalcemia, Infantile, 2
Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate... OMIM:616963
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Anterior pituitary hypoplasia, Reduced circulating p... OMIM:613038
Ddost-Cdg
Gastroesophageal reflux, Constipation, Nephrotic range proteinuria, Primary hypothyroidism ORPHA:300536
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal segmental glomerul... OMIM:308990
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Diabetes mellitus, Abnormality of the kidney, Decreased serum iron, Constipation, Hypothyroidism ORPHA:391372
Familial Multinodular Goiter
Hyperthyroidism, Multinodular goiter, Ovarian neoplasm, Renal cell carcinoma, Thyroid carcinoma, ... ORPHA:276399
Cholera
Hyponatremia, Abnormality of renal excretion, Acidosis, Diarrhea, Abnormal blood ion concentratio... ORPHA:173
Li-Campeau Syndrome
Cryptorchidism, Micropenis, Hypothyroidism OMIM:619189
Bamforth-Lazarus Syndrome
Thyroid agenesis, Congenital hypothyroidism ORPHA:1226
Developmental And Epileptic Encephalopathy 50
Diarrhea, Hyperammonemia, Renal tubular acidosis, Dysphagia, Oroticaciduria OMIM:616457
Bartter Syndrome, Type 1, Antenatal
Hyperparathyroidism, Increased serum prostaglandin E2, Renal salt wasting, Nephrocalcinosis, Incr... OMIM:601678
Branchiootorenal Syndrome 1
Renal malrotation, Unilateral renal agenesis, Renal steatosis, Euthyroid goiter, Polycystic kidne... OMIM:113650
Lysine Malabsorption Syndrome
Renal tubular lysine transport defect, Hyperlysinuria OMIM:247950
Fanconi Renotubular Syndrome 2
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Hypophosphatemia, Re... OMIM:613388
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Atrophic gastritis, Female hypogonadism, Cholelithiasis, Decreased circulatin... OMIM:240300
Vici Syndrome
Renal tubular acidosis, Ureteral atresia ORPHA:1493
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Hypoplasia of penis, Hypothyroidism ORPHA:2491
Cardiogenic Shock
Increased serum lactate, Elevated circulating creatinine concentration, Metabolic acidosis, Oliguria ORPHA:97292
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypokalemic metabolic alkalosis, Polyuria, Renal salt wasting, Elevated serum bicarbonate concent... OMIM:612780
Osteopetrosis With Renal Tubular Acidosis
Elevated circulating creatine kinase concentration, Nephrolithiasis, Proximal renal tubular acido... ORPHA:2785
Potocki-Lupski Syndrome
Oral-pharyngeal dysphagia, Abnormal renal morphology, Gastroesophageal reflux, Hypocholesterolemi... OMIM:610883
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ketonuria, Elevated circulating creatine kinase concentration, Premature thelarche, Oral-pharynge... OMIM:616878
Familial Renal Glucosuria
Recurrent urinary tract infections, Elevated hemoglobin A1c, Abnormal circulating insulin concent... ORPHA:69076
Pituitary Stalk Interruption Syndrome
Hypoplasia of penis, Ectopic posterior pituitary, Adrenal hypoplasia, Hypothyroidism, Cryptorchid... ORPHA:95496
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Gastroes... ORPHA:534
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Hypokalemic hypoc... OMIM:602522
Combined Oxidative Phosphorylation Deficiency 33
Elevated circulating creatine kinase concentration, Increased serum lactate, Lactic acidosis, Nep... OMIM:617713
Exercise-Induced Malignant Hyperthermia
Anhidrosis, Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Lactic ac... ORPHA:466650
Wolfram Syndrome 1
Neurogenic bladder, Hydroureter, Diabetes mellitus, Diabetes insipidus, Dysphagia, Hypothyroidism... OMIM:222300
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decrease... ORPHA:453533
Dystonia 28
Precocious puberty, Hypothyroidism, Dysphagia ORPHA:589618
Idiopathic Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iodine upta... ORPHA:95717
Maternal Uniparental Disomy Of Chromosome 9
Congenital hypothyroidism ORPHA:96183
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... OMIM:300971
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Hypospadias, Abnormality of the thy... ORPHA:209905
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Hyperur... ORPHA:77296
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Polyuria, Nephrocalcinosis, Metabolic acidosis, Hypokalemia, Hypocalcemia, Hypomagn... OMIM:620152
Alagille Syndrome 1
Duplicated collecting system, Hypertriglyceridemia, Multiple small medullary renal cysts, Stage 5... OMIM:118450
Helix Syndrome
Anhidrosis, Renal insufficiency, Hyperparathyroidism, Polyuria, Xerostomia, Nephrolithiasis, Hype... OMIM:617671
Nephronophthisis-Like Nephropathy 2
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr... OMIM:619468
Acetazolamide-Responsive Myotonia
Hypothyroidism, Dysphagia ORPHA:99736
Cowden Syndrome 7
Ductal carcinoma in situ, Papillary thyroid carcinoma, Hashimoto thyroiditis, Goiter OMIM:616858
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Anuria, Diarrhea, Peritonitis, Elevated circulating creatinine concentration, Blood... ORPHA:90038
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polyuria, Megacystis, Constipation, Vomiting, Hypernatremia, Diabetes insipidus OMIM:304800
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Renal Fanconi syndrome, Stage 5 chronic kidney disease, Glycosuria OMIM:268315
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Anuria, Hemolytic-uremic syndrome, Diarrhea, Hyperlipidemia, Elevated circulating creatinine conc... OMIM:235400
Neurodevelopmental Disorder With Language Delay And Seizures
Cryptorchidism, Hypothyroidism, Hypomagnesemia OMIM:619908
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polyuria, Nephrogenic diabetes insipidus, Megacystis, Constipation, Vomiting, Hypernatremia OMIM:125800
Congenital Disorder Of Glycosylation, Type Ih
Cryptorchidism, Diarrhea, Elevated circulating creatinine concentration, Vomiting, Hypoalbuminemi... OMIM:608104
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Foamy urine, Proteinuria, ... ORPHA:567548
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Cryptorchidism, Hypothyroidism OMIM:613970
Oculoskeletodental Syndrome
Renal agenesis, Hypercalcemia, Cryptorchidism, Hypercalciuria, Mucopolysacchariduria, Hypocalcemi... OMIM:618440
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Pituitary adenoma, Pheochromocytoma, Thyroid c... OMIM:160980
3-Methylglutaconic Aciduria Type 7
Renal insufficiency, Increased serum lactate, Renal cyst, Nephrocalcinosis, 3-Methylglutaconic ac... ORPHA:445038
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Hypothyroidism OMIM:264300
Ethylene Glycol Poisoning
Renal insufficiency, Gastritis, Nausea, Hyperkalemia, Renal tubular epithelial necrosis, Renal tu... ORPHA:31826
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Hypothyroidism, Hypohidrosis ORPHA:1882
Leukodystrophy, Hypomyelinating, 24
Hypothyroidism OMIM:619851
Maternal Uniparental Disomy Of Chromosome 2
Renal insufficiency, Hypospadias, Decreased response to growth hormone stimulation test, Bilatera... ORPHA:96179
Omenn Syndrome
Nephrotic syndrome, Chronic diarrhea, Hypothyroidism, Thyroiditis ORPHA:39041
Methimazole Embryofetopathy
Abnormality of the thyroid gland, Hypothyroidism, Hypospadias ORPHA:1923
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Elevated hemoglobin A1c, Central hy... OMIM:616113
Dilated Cardiomyopathy With Ataxia
Hypoplasia of penis, Increased serum lactate, Bilateral cryptorchidism, Perineal hypospadias, 3-M... ORPHA:66634
Thyroid Hypoplasia
Constipation, Hypothyroidism, Thyroid hypoplasia ORPHA:95720
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Hyponatremia, Recurrent urinary tract infections, Renal insufficienc... ORPHA:731
14Q11.2 Microduplication Syndrome
Hypothyroidism ORPHA:261229
Beta-Thalassemia Intermedia
Hypoparathyroidism, Diabetes mellitus, Proximal tubulopathy, Adrenal insufficiency, Hypogonadism,... ORPHA:231222
Car T Cell Therapy-Associated Cytokine Release Syndrome
Nausea, Diarrhea, Elevated circulating creatinine concentration, Vomiting, Hyperbilirubinemia, Ac... ORPHA:542323
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... OMIM:134600
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Renal insufficiency, Hypoplasia of penis, Cryptorchidism, Renal hypoplasia, Hypothyroidism, Renal... ORPHA:85321
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypopituitarism, Hypertriglyceridemia, Hypothyroidism, Hypoalbuminemia OMIM:619013
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Elevated circulating creatine kinase concentration, Eleva... OMIM:309000
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Polyuria, Diarrhea, Proximal tubulopathy, Vomiting, Type I diabetes mellitus OMIM:560000
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Hypothyroidism, Delayed puberty ORPHA:2994
Nabais Sa-De Vries Syndrome, Type 2
Gastroesophageal reflux, Multicystic kidney dysplasia, Hypothyroidism, Chronic constipation OMIM:618829
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
4H Leukodystrophy
Hypogonadotropic hypogonadism, Abnormality of thyroid physiology, Decreased response to growth ho... ORPHA:289494
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Cryptorchidism, Hypothyroidism, Renal hypoplasia, Delayed puberty OMIM:616817
Stiff Person Spectrum Disorder
Diabetes mellitus, Hypothyroidism, Hyperhidrosis ORPHA:3198
Renal Tubular Dysgenesis
Renotubular dysgenesis, Abnormality of the urinary system, Anuria OMIM:267430
Gitelman Syndrome
Hypokalemic alkalosis, Polyuria, Renal magnesium wasting, Hypomagnesemia, Enuresis, Hypokalemia, ... OMIM:263800
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Increased serum iron, Hypogonadism, Adrenal insuffi... ORPHA:300298
Intellectual Disability-Strabismus Syndrome
Decreased serum insulin-like growth factor 1, Hypospadias, Decreased response to growth hormone s... ORPHA:363528
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypokalemia, Hypomagnesemia, Renal potassium... OMIM:618314
B4Galt1-Cdg
Diarrhea, Hypothyroidism, Elevated circulating creatine kinase concentration, Decreased LDL chole... ORPHA:79332
Bartter Syndrome, Type 2, Antenatal
Increased serum prostaglandin E2, Renal salt wasting, Nephrocalcinosis, Increased circulating ren... OMIM:241200
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Type I diabetes mellitus, Nodular goiter, Premature thelarche, Polycystic ovaries ORPHA:371428
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Chronic diarrhea, Ileus, Type I diabetes mellitus, Hypothyroidism OMIM:304790
Fragile X Tremor/Ataxia Syndrome
Hypothyroidism, Urinary incontinence, Bowel incontinence OMIM:300623
Pearson Syndrome
Elevated lactate:pyruvate ratio, Decreased response to growth hormone stimulation test, Renal cys... ORPHA:699
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Hypoplasia of penis, Decreased response to growth hormone stimulation test, Congenital hypothyroi... OMIM:601427
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Acute pancreatitis, Diabetes mellitus, Hypertriglyceride... ORPHA:412
Cowden Syndrome
Abnormal penis morphology, Abnormality of the kidney, Follicular thyroid carcinoma, Abnormality o... ORPHA:201
Duplication Of Urethra
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... ORPHA:237
Smith-Magenis Syndrome
Hypertriglyceridemia, Renal hypoplasia/aplasia, Precocious puberty, Abnormality of the ureter, Ab... ORPHA:819
Dent Disease 2
Elevated circulating creatine kinase concentration, Chronic kidney disease, Hypercalciuria, Hypop... OMIM:300555
Cataract-Nephropathy-Encephalopathy Syndrome
Renal tubular dysfunction ORPHA:1380
Fanconi Anemia, Complementation Group I
Decreased response to growth hormone stimulation test, Abnormal renal morphology, Renal hypoplasi... OMIM:609053
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hyperthyroidism, Gastritis, Abnormality of the endocrine system, Hypomagnesemia, Ileus, Secretory... ORPHA:37042
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Diarrhea, Lactic acidosis, Aminoaciduria, Proximal tubulopathy, Vomiting, Severe lactic acidosis OMIM:612075
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hypothyroidism, Elevated circulating C-reactive protein concentration, Elevated circulating amylo... OMIM:619750
Acrodysostosis 2 With Or Without Hormone Resistance
Cryptorchidism, Diabetes mellitus, Hypospadias, Congenital hypothyroidism OMIM:614613
Yellow Fever
Renal insufficiency, Anuria, Acute pancreatitis, Elevated circulating creatine kinase concentrati... ORPHA:99829
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Metabolic acidosis, Renal tubular acidosis, Chronic constipation, Hematochezia OMIM:619575
Congenital Disorder Of Glycosylation, Type Ii
Gastroesophageal reflux, Diarrhea, Hypothyroidism OMIM:607906
Atelis Syndrome 1
Hypothyroidism OMIM:620184
Familial Adenomatous Polyposis
Pancreatic adenocarcinoma, Abnormality of the thyroid gland, Pituitary adenoma, Thyroiditis, Neop... ORPHA:733
Interstitial Lung And Liver Disease
Hyperammonemia, Lactic acidosis, Aminoaciduria, Vomiting, Hypothyroidism OMIM:615486
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Congenital hypothyroidism ORPHA:352530
Fucosidosis
Mucopolysacchariduria, Hypothyroidism, Hyperhidrosis ORPHA:349
Melas
Hypoparathyroidism, Diabetes mellitus, Proteinuria, Hypogonadotropic hypogonadism, Increased seru... ORPHA:550
Rabson-Mendenhall Syndrome
Increased pineal volume, Enlarged ovaries, Precocious puberty, Insulin-resistant diabetes mellitu... ORPHA:769
Aicardi-Goutieres Syndrome 9
Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Acute pancreatitis, Stage 5... OMIM:619487
Subcorneal Pustular Dermatosis
Hyperthyroidism, Hypothyroidism ORPHA:48377
Senior-Loken Syndrome 4
Stage 5 chronic kidney disease, Polyuria, Nephronophthisis OMIM:606996
Pallister-Hall Syndrome
Renal dysplasia, Thyroid dysgenesis, Decreased circulating cortisol level, Hydroureter, Decreased... OMIM:146510
Paroxysmal Nocturnal Hemoglobinuria
Hemosiderinuria, Renal insufficiency, Proteinuria, Decreased serum iron, Chronic kidney disease, ... ORPHA:447
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Ketonuria, Elevated circulating creatine kinase concentration, Increased serum lactate, Elevated ... ORPHA:480864
Renal Glucosuria
Glycosuria, Polyuria, Enuresis nocturna OMIM:233100
Autoimmune Polyendocrinopathy Type 2
Hypoparathyroidism, Abnormality of the thyroid gland, Primary adrenal insufficiency, Hypogonadism... ORPHA:3143
Secondary Short Bowel Syndrome
Diarrhea, Low plasma citrulline, Enterocolitis, Abnormal blood ion concentration, Central hypothy... ORPHA:95427
Jung Syndrome
Hypothyroidism ORPHA:2321
Aneurysm Of Sinus Of Valsalva
Oliguria ORPHA:1054
Adiposis Dolorosa
Xerostomia, Constipation, Hypothyroidism, Diarrhea ORPHA:36397
Martin-Probst Syndrome
Renal insufficiency, Proteinuria, Cryptorchidism, Chordee, Hypoplastic nipples, Micropenis, Hypot... OMIM:300519
Congenital Disorder Of Glycosylation, Type Ia
Proteinuria, Hypergonadotropic hypogonadism, Diarrhea, Renal cyst, Nephrotic syndrome, Proximal t... OMIM:212065
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Delayed puberty, Type I diabetes mellitus, Achalasia, Hypothyroidism, Exocrine pancreatic insuffi... OMIM:615952
Thyroid Ectopia
Abnormality of the thyroid gland, Constipation, Hypothyroidism, Ectopic thyroid ORPHA:95712
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Intestinal obstruction, Diarrhea, Hypoalbuminemia, Vomiting, Hypothyroidism OMIM:226300
Mccune-Albright Syndrome
Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... OMIM:174800
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Proteinuria, Diarrhea, Hyperlipidemia, Nephrolithiasis, Stage 5 chronic kid... ORPHA:79259
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, E... ORPHA:465508
Multifocal Atrial Tachycardia
Cryptorchidism, Hypothyroidism ORPHA:3282
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Hypogonadism, Type II diabetes mellitus, Dysphagia, Type I diabetes mellitus, Delayed menarche, H... ORPHA:412057
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing... ORPHA:79102
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Calcium nephrolithiasis, Decreased circulating parathyroid hormone level, Abnormal circulating ca... OMIM:241530
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Primary hypothyroidism OMIM:225050
Silver-Russell Syndrome Due To A Point Mutation
Hypothyroidism, Hypospadias, Microphallus, Cryptorchidism ORPHA:397590
Srd5A3-Cdg
Hypothyroidism, Decreased response to growth hormone stimulation test ORPHA:324737
Lig4 Syndrome
Cryptorchidism, Micropenis, Hypothyroidism, Type II diabetes mellitus OMIM:606593
Scleromyxedema
Abnormality of thyroid physiology, Abnormality of the kidney, Hypoperistalsis, Elevated circulati... ORPHA:167635
Autosomal Dominant Optic Atrophy, Classic Form
Hypogonadism, Diabetes mellitus, Hypothyroidism, Dysphagia ORPHA:98673
Lig4 Syndrome
Cryptorchidism, Hypoplasia of penis, Hypothyroidism, Type II diabetes mellitus ORPHA:99812
Schimke Immuno-Osseous Dysplasia
Proteinuria, Abnormality of thyroid physiology, Minimal change glomerulonephritis, Hyperlipidemia... ORPHA:1830
Congenital Disorder Of Glycosylation, Type Ib
Diarrhea, Renal cyst, Proximal tubulopathy, Vomiting, Hypoalbuminemia, Steatorrhea, Hyperinsuline... OMIM:602579
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Recurrent urinary tract infections, Hypothyroidism, Decreased response to growth hormone stimulat... OMIM:619234
Timothy Syndrome
Hypothyroidism, Hypocalcemia OMIM:601005
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Diabetes mellitus, Hypothyroidism, Abnormal circulating creatine kinase concentration ORPHA:263297
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Multinodular goiter OMIM:618373
19P13.12 Microdeletion Syndrome
Hypospadias, Precocious puberty, Cryptorchidism, Hyperlipidemia, Hypothyroidism ORPHA:254346
Igg4-Related Dacryoadenitis And Sialadenitis
Xerostomia, Thyroiditis, Enlarged lacrimal glands, Enlargement of parotid gland, Tubulointerstiti... ORPHA:79078
Hypophosphatemic Rickets, X-Linked Dominant
Abnormal circulating calcium concentration, Renal phosphate wasting, Renal tubular dysfunction, E... OMIM:307800
Chromosome 2Q37 Deletion Syndrome
Hypothyroidism OMIM:600430
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... ORPHA:226307
Bartter Syndrome Type 4
Hyponatremia, Hypokalemic metabolic alkalosis, Renal salt wasting, Increased urinary potassium, I... ORPHA:89938
Short Stature, Microcephaly, And Endocrine Dysfunction
Diabetes mellitus, Unilateral renal agenesis, Ectopic kidney, Cryptorchidism, Renal hypoplasia, M... OMIM:616541
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent urinary tract infections, Aplasia of the thymus, Diarrhea, Thyroiditis, Hypocalcemic te... ORPHA:83471
Acquired Aneurysmal Subarachnoid Hemorrhage
Vomiting, Hypercholesterolemia, Hypopituitarism, Hypothyroidism, Nausea ORPHA:90065
Isolated Biliary Atresia
Dark yellow urine, Atretic gallbladder, Conjugated hyperbilirubinemia, Bile duct proliferation, H... ORPHA:30391
Tubulointerstitial Nephritis And Uveitis Syndrome
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:91500
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Diabetes mellitus, Hypothyroidism, Delayed puberty ORPHA:391408
Nephronophthisis 1
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:256100
Intellectual Developmental Disorder, Autosomal Dominant 52
Bilateral cryptorchidism, Cryptorchidism, Hypothyroidism, Chronic constipation OMIM:617796
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Streak ovary, Decreased response to growth hormone st... ORPHA:3464
Osteopetrosis, Autosomal Recessive 3
Distal renal tubular acidosis OMIM:259730
Myasthenia Gravis
Hyperthyroidism, Primary adrenal insufficiency, Dysphagia, Abnormal thymus morphology, Glycosuria... ORPHA:589
Koolen-De Vries Syndrome
Ureteral duplication, Hypospadias, Cryptorchidism, Vesicoureteral reflux, Hypothyroidism, Hydrone... ORPHA:96169
Immunodeficiency 102
Hypothyroidism OMIM:301082
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Proteinuria, Elevated circulating creatinine concentration, Glomerul... ORPHA:247691
Microform Holoprosencephaly
Hypoplasia of penis, Renal agenesis, Maternal diabetes, Panhypopituitarism, Hypothyroidism ORPHA:280200
Cenani-Lenz Syndrome
Crossed fused renal ectopia, Hypothyroidism, Renal hypoplasia/aplasia ORPHA:3258
Fragile X-Associated Tremor/Ataxia Syndrome
Bowel incontinence, Pollakisuria, Dysphagia, Urinary bladder sphincter dysfunction, Hypothyroidism ORPHA:93256
Fanconi-Bickel Syndrome
Hyperphosphaturia, Ketonuria, Proteinuria, Hypouricemia, Chronic acidosis, Hypercalciuria, Genera... OMIM:227810
Autoimmune Polyendocrine Syndrome, Type Ii
Hyperthyroidism, Primary adrenal insufficiency, Thymoma, Type II diabetes mellitus, Steatorrhea, ... OMIM:269200
Spondyloenchondrodysplasia
Proteinuria, Decreased response to growth hormone stimulation test, Chronic kidney disease, Hemat... ORPHA:1855
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Diabetes mellitus, Increased circulating thyroglobulin level, Pancreatic cysts, Elevated circulat... OMIM:610199
Monosomy 18P
Hypothyroidism ORPHA:1598
Senior-Loken Syndrome 1
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... OMIM:266900
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Diabetes mellitus, Hyperthyroidism, Hypothyroidism, Gastroesophageal reflux ORPHA:449291
Bone Marrow Failure Syndrome 6
Hypothyroidism OMIM:618849
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... OMIM:610978
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypokalemic metabolic alkalosis, Abnormal renal tubular resorption, Hypercalciuria, Hyperprostagl... ORPHA:73224
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Hypothyroidism OMIM:617763
Bardet-Biedl Syndrome 17
Polyuria, Stage 5 chronic kidney disease, Renal cyst, Hypogonadism, Micropenis OMIM:615994
Acrodysostosis 1 With Or Without Hormone Resistance
Unilateral renal agenesis, Cryptorchidism, Elevated circulating thyroid-stimulating hormone conce... OMIM:101800
Ohdo Syndrome, Sbbys Variant
Hypothyroidism, Hypospadias, Cryptorchidism OMIM:603736
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Anuria, Peritonitis, Megacystis, Pyelonephritis, Fetal megacystis, Renal cortical hyperechogenicity OMIM:619351
Distal Xq28 Microduplication Syndrome
Hypothyroidism, Neonatal hyperbilirubinemia ORPHA:293939
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Nephrolithiasis, Abnormality of the kidney, Thyroid hypoplasia, Congenital hypothyroidism ORPHA:521445
Intrahepatic Cholestasis Of Pregnancy
Increased serum bile acid concentration, Abnormal pineal melatonin secretion, Hypothyroidism, Hyp... ORPHA:69665
Ring Chromosome 12 Syndrome
Cryptorchidism, Hypothyroidism, Glandular hypospadias, Breast hypoplasia ORPHA:1439
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypoplasia of penis, Supernumerary nipple, Cryptorchidism, Hypohidrosis, Hypothyroidism ORPHA:1812
Dominant Beta-Thalassemia
Hypoparathyroidism, Diabetes mellitus, Diarrhea, Adrenal insufficiency, Abnormality of iron homeo... ORPHA:231226
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Chronic diarrhea, Gastroesophageal reflux, Type I diabetes mellitus, Hypothyroidism, Hashimoto th... OMIM:613385
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Enamel-Renal Syndrome
Increased circulating osteocalcin level, Renal insufficiency, Hypophosphaturia, Impaired renal co... ORPHA:1031
Anemia, Congenital Dyserythropoietic, Type Iv
Hypospadias, Hyperbilirubinemia, Unconjugated hyperbilirubinemia, Micropenis, Reduced haptoglobin... OMIM:613673
Seckel Syndrome 7
Central hypothyroidism OMIM:614851
Allan-Herndon-Dudley Syndrome
Cryptorchidism, Abnormality of thyroid physiology ORPHA:59
Down Syndrome
Hypothyroidism, Type II diabetes mellitus, Renal hypoplasia/aplasia ORPHA:870
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Nephrocalcinosis, Hypothyroidism OMIM:618005
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... ORPHA:98754
Neurooculorenal Syndrome
Hypoplasia of the bladder, Decreased circulating cortisol level, Ectopic posterior pituitary, Uni... OMIM:620305
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal tubular dysfunction, Renal insufficiency, Pancreatitis, Hyperammonemia ORPHA:289916
Dent Disease
Renal insufficiency, Hyperphosphaturia, Proteinuria, Elevated circulating creatine kinase concent... ORPHA:1652
Dent Disease 1
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... OMIM:300009
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Type I diabetes mellitus, Chronic diarrhea, Hypothyroidism, Thyroiditis OMIM:606367
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Diabetes mellitus, Aplasia/Hypoplasia of the pancreas, Delayed puberty, Hyperechogenic pancreas, ... ORPHA:456312
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... ORPHA:98793
Sim1-Related Prader-Willi-Like Syndrome
Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism, Xerostomia... ORPHA:398079
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Chronic diarrhea, Thyroiditis, Inflammation of the large intestine, Colitis, ... OMIM:614700
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... ORPHA:177904
Linear Skin Defects With Multiple Congenital Anomalies 3
Thyroid C cell hyperplasia OMIM:300952
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... ORPHA:177901
Distal Renal Tubular Acidosis
Hyperphosphaturia, Hypocitraturia, Diarrhea, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephroc... ORPHA:18
Tuberous Sclerosis 1
Precocious puberty, Renal cyst, Renal cell carcinoma, Adenoma sebaceum, Renal angiomyolipoma, Hyp... OMIM:191100
Ventilator-Induced Diaphragmatic Dysfunction
Hypothyroidism ORPHA:505395
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
Duplication of renal pelvis, Ureteral duplication, Hypothyroidism ORPHA:457212
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Cryptorchidism, Micropenis, Supernumerary nipple, Congenital hypothyroidism ORPHA:2519
Whipple Disease
Gastrointestinal hemorrhage, Diarrhea, Hypothyroidism, Hyponatremia ORPHA:3452
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Panhypopituitarism, Hypothyroidism, Decreased response to growth hormone stimulation test, Dysphagia OMIM:618922
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Multinodular goiter OMIM:620189
Beta-Thalassemia Major
Hypoparathyroidism, Diabetes mellitus, Diarrhea, Adrenal insufficiency, Abnormality of iron homeo... ORPHA:231214
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Tbck-Related Intellectual Disability Syndrome
Neurogenic bladder, Hyperthyroidism, Decreased response to growth hormone stimulation test, Crypt... ORPHA:488632
Hydatidiform Mole
Hyperthyroidism ORPHA:99927
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... OMIM:606966
Pseudoxanthoma Elasticum
Nephrocalcinosis, Hypothyroidism, Gastrointestinal hemorrhage ORPHA:758
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Thyroid dysgenesis, Thyroid agenesis, Cryptorchidism, Ectopic thyroid, Hypothyroidism, Thyroid hy... ORPHA:3047
Prader-Willi Syndrome
Diabetes mellitus, Gastroparesis, Decreased response to growth hormone stimulation test, Precocio... ORPHA:739
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia, Hypothyroidism ORPHA:2479
45,X/46,Xy Mixed Gonadal Dysgenesis
Decreased serum testosterone concentration, Streak ovary, Hypospadias, Abnormality of the kidney,... ORPHA:1772
Poems Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Primary adrenal insufficiency, Hypogonadi... ORPHA:2905
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormal bladder morphology, Cryptorchidism, Gastroesophageal reflux, Constipation, Vesicouretera... ORPHA:453499
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Vomitin... OMIM:231680
Autosomal Dominant Dopa-Responsive Dystonia
Hypothyroidism, Transient hyperphenylalaninemia ORPHA:98808
Chromosome 1P35 Deletion Syndrome
Cryptorchidism, Elevated maternal serum alpha-fetoprotein, Congenital hypothyroidism OMIM:617930
Tuberous Sclerosis 2
Absence of renal corticomedullary differentiation, Precocious puberty, Renal cyst, Renal cell car... OMIM:613254
Syndromic Diarrhea
Gastritis, Renal hypoplasia, Bloody diarrhea, Colitis, Hypoplasia of the thymus, Polycystic kidne... ORPHA:84064
Aicardi-Goutieres Syndrome 1
Hypothyroidism, Diabetes insipidus OMIM:225750
Lead Poisoning
Decreased HDL cholesterol concentration, Chronic kidney disease, Renal tubular dysfunction, Tubul... ORPHA:330015
Carney Complex
Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Ovarian serous cystadenoma... ORPHA:1359
Intellectual Developmental Disorder, X-Linked 98
Steroid-dependent nephrotic syndrome, Urinary incontinence, Central hypothyroidism, Gastroesophag... OMIM:300912
Magel2-Related Prader-Willi-Like Syndrome
Hypothalamic luteinizing hormone-releasing hormone deficiency, Precocious puberty, Cryptorchidism... ORPHA:398069
Senior-Loken Syndrome 3
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis OMIM:606995
Hypophosphatemic Rickets, X-Linked Recessive
Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Hypophosphatemia, N... OMIM:300554
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Type I diabetes mellitus, Hypothyroidism, Thyroiditis ORPHA:228426
Neuhauser Syndrome
Hypercholesterolemia, Primary hypothyroidism, Dysphagia OMIM:249310
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Hematemesis, Increased circulating ferritin concentration, Diarrhea, Bloody d... OMIM:615846
Leprechaunism
Enlarged ovaries, Long penis, Hyperinsulinemia, Hypercalciuria, Central hypothyroidism, Nephrocal... ORPHA:508
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Hypospadias, Bilateral cryptorchidism, Cryptorchidism, Central hypothyroidism, Gastroesophageal r... OMIM:300998
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Chronic diarrhea, Decreased LDL cholesterol concentratio... ORPHA:14
Alexander Disease
Diabetes mellitus, Bowel incontinence, Precocious puberty, Hyperhidrosis, Constipation, Dysphagia... ORPHA:58
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Abnormality of the endocrine system, Diarrhea, Functional abnormality of the bladder, Thyroiditis... ORPHA:391487
Mogs-Cdg
Inappropriate antidiuretic hormone secretion, Chronic constipation, Hypothyroidism, Hydrocele testis ORPHA:79330
Amelogenesis Imperfecta, Type Ig
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis OMIM:204690
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Diabetes mellitus, Pancreatic fibrosis, Steatorrhea, Delayed puberty, Hypothyroidism, Exocrine pa... OMIM:616263
White-Kernohan Syndrome
Hydroureter, Horseshoe kidney, Gastroesophageal reflux, Hypothyroidism, Hydronephrosis OMIM:619426
Monosomy 18Q
Bilateral cryptorchidism, Micropenis, Hypothyroidism, Secondary growth hormone deficiency ORPHA:1600
Beckwith-Wiedemann Syndrome
Ureteral duplication, Adrenocortical cytomegaly, Elevated circulating alpha-fetoprotein concentra... ORPHA:116
Trichohepatoneurodevelopmental Syndrome
Chronic diarrhea, Recurrent pancreatitis, Hypoplastic nipples, Gastroesophageal reflux, Steatorrh... OMIM:618268
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Hydronephrosis, Unilateral breast hypoplasia, Abnormality of thyroid physiology, Renal dysplasia OMIM:300968
Nephronophthisis 11
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:613550
Wilson Disease
Hypoparathyroidism, Hyperphosphaturia, Decreased circulating ceruloplasmin concentration, Protein... OMIM:277900
Cutis Marmorata Telangiectatica Congenita
Displacement of the urethral meatus, Multicystic kidney dysplasia, Hypothyroidism ORPHA:1556
Phace Association
Lingual thyroid, Congenital hypothyroidism OMIM:606519
Spondyloenchondrodysplasia With Immune Dysregulation
Hypothyroidism, Tubulointerstitial fibrosis OMIM:607944
Digeorge Syndrome
Renal insufficiency, Parathyroid agenesis, Unilateral renal agenesis, Decreased circulating parat... OMIM:188400
Fibrous Dysplasia Of Bone
Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Elevated circulating growth ho... ORPHA:249
Mosaic Variegated Aneuploidy Syndrome 2
Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:614114
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Hypothyroidism OMIM:618569
Peripartum Cardiomyopathy
Diabetes mellitus, Abnormality of thyroid physiology ORPHA:563
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Recurrent urinary tract infections, Hypospadias, Decreased response to growth hormone stimulation... ORPHA:268261
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Gastroparesis, Supernumerary nipple, Cryptorchidism, Episodic vomiting, Hyperhidrosis, Constipati... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Gastroparesis, Supernumerary nipple, Cryptorchidism, Episodic vomiting, Hyperhidrosis, Constipati... ORPHA:352665
Immunodeficiency 31C
Diarrhea, Diabetes mellitus, Hypothyroidism, Delayed puberty OMIM:614162
Myopathy, Mitochondrial, And Ataxia
Hyperthyroidism, Elevated circulating creatine kinase concentration, Increased circulating prolac... OMIM:617675
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc... OMIM:211900
Isolated Permanent Neonatal Diabetes Mellitus
Ketonuria, Neonatal insulin-dependent diabetes mellitus, Abnormality of the upper urinary tract, ... ORPHA:99885
Teratoma, Pineal
Polyuria OMIM:273120
Rothmund-Thomson Syndrome Type 1
Calcinosis, Cryptorchidism, Diarrhea, Hypogonadism, Vomiting, Hypothyroidism ORPHA:221008
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Gastrointestinal hemorrhage, Hyperthyroidism, Hypospadias, Bowel incontinence... ORPHA:567
Lymphatic Malformation 6
Hydrocele testis, Gastroesophageal reflux, Hypothyroidism OMIM:616843
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of penis, Hypospadias, Adrenal hypoplasia, Renal hypoplasia/aplasia, Cryptorchidism, A... ORPHA:2166
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Decreased response to growth hormone stimulation test, Central diabetes insipidus, ... ORPHA:293987
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Cryptorchidism, Hypothyroidism, Renal hypoplasia, Exocrine pancreatic insufficiency OMIM:620005
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Elevated hemoglobin A1c, Increased serum lactate, Renal tubular dysfunction, Lactic acidosis, Gly... OMIM:616539
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Hyperthyroidism, Mildly elevated creatine kinase, Increased circulating prolactin concentration ORPHA:502423
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Absent nipple, Aplasia of the thymus, Congenital hypothyroidism, Hydrocele testis, Gastroesophage... OMIM:620186
Koolen-De Vries Syndrome Due To A Point Mutation
Recurrent urinary tract infections, Hypospadias, Decreased response to growth hormone stimulation... ORPHA:363965
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Decreased serum iron, Abnormality of the endocrine system, Precocious puberty, Cryptorchidism, Ab... ORPHA:438213
17Q21.31 Microdeletion Syndrome
Recurrent urinary tract infections, Hypospadias, Decreased response to growth hormone stimulation... ORPHA:363958
Mosaic Variegated Aneuploidy Syndrome
Multicystic kidney dysplasia, Hypothyroidism, Nephroblastoma ORPHA:1052
Sarcoidosis
Renal insufficiency, Hyperthyroidism, Diabetes insipidus, Hypercalcemia, Enlarged lacrimal glands... ORPHA:797
Williams-Beuren Syndrome
Recurrent urinary tract infections, Renal insufficiency, Diabetes mellitus, Hypercalcemia, Abnorm... OMIM:194050
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Horseshoe kidney, Gastroesoph... ORPHA:444077
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Adrenal hypoplasia, Unilateral renal agenesis, Elevated 8-dehydrocholesterol, Elevated 8(9)-chole... OMIM:308050
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Palmoplantar hyperhidrosis, Dysphagia, Congenital hypothyroidism OMIM:617527
Arima Syndrome
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R... OMIM:243910
Townes-Brocks Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the kidney, Urethral valve,... ORPHA:857
Acrocardiofacial Syndrome
Cryptorchidism, Hypoplasia of penis, Hyperthyroidism, Hypospadias ORPHA:2008
Cerebrotendinous Xanthomatosis
Increased serum lactate, Cholelithiasis, Chronic diarrhea, Hypothyroidism ORPHA:909
Peroxisome Biogenesis Disorder 12A (Zellweger)
Renal tubular dysfunction, Cholelithiasis, Elevated circulating long chain fatty acid concentrati... OMIM:614886
Stüve-Wiedemann Syndrome
Hypohidrosis, Hypothyroidism, Ectopic thyroid, Hyperhidrosis ORPHA:3206
Phace Syndrome
Hypothyroidism, Ectopic thyroid ORPHA:42775
Bilateral Polymicrogyria
Pseudobulbar paralysis, Central hypothyroidism ORPHA:268940
Gabriele-De Vries Syndrome
Decreased response to growth hormone stimulation test, Oral-pharyngeal dysphagia, Cryptorchidism,... ORPHA:506358
Williams Syndrome
Hypoplasia of penis, Elevated circulating creatine kinase concentration, Abnormal tubulointerstit... ORPHA:904
Hyperuricemic Nephropathy, Familial Juvenile, 3
Impaired renal concentrating ability, Renal insufficiency, Abnormal renal insterstitial morpholog... OMIM:614227
Steinert Myotonic Dystrophy
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... ORPHA:273
Ring Chromosome 13 Syndrome
Hypoplasia of the gallbladder, Hypospadias, Primary hypothyroidism, Abnormal renal physiology, Mi... ORPHA:96176
Intellectual Developmental Disorder, Autosomal Dominant 42
Neurogenic bladder, Congenital hypothyroidism, Dysphagia, Ureteropelvic junction obstruction, Hyd... OMIM:616973
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Ureteral duplication, Neonatal insulin-dependent diabetes mellitus, Congenital hypothyroidism, Pa... ORPHA:2255
1P36 Deletion Syndrome
Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Cryptorchidism, Renal cyst, Hypogona... ORPHA:1606
Aicardi-Goutières Syndrome
Micropenis, Diabetes mellitus, Hypothyroidism ORPHA:51
Townes-Brocks Syndrome 1
Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Urethral valve, Cryptorchidism, R... OMIM:107480
Hallermann-Streiff Syndrome
Cryptorchidism, Hypothyroidism ORPHA:2108
Andersen-Tawil Syndrome
Renal tubular dysfunction, Hyperaldosteronism, Renal hypoplasia ORPHA:37553
Charge Syndrome
Hypoparathyroidism, Renal agenesis, Hypogonadotropic hypogonadism, Decreased response to growth h... OMIM:214800
Andersen Cardiodysrhythmic Periodic Paralysis
Hypokalemia, Hyperthyroidism OMIM:170390
Coffin-Siris Syndrome 12
Hypospadias, Cryptorchidism, Horseshoe kidney, Chronic constipation, Gastroesophageal reflux, Hyp... OMIM:619325
Schinzel-Giedion Syndrome
Streak ovary, Hypospadias, Abnormality of the ureter, Nephrolithiasis, Renal cyst, Micropenis, Ce... ORPHA:798
Sotos Syndrome
Ureteral duplication, Renal insufficiency, Hypospadias, Abnormality of the kidney, Renal agenesis... ORPHA:821
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Polyuria, Diarrhea, Recurrent pancreatitis, Vomiting, Dysphagia, Type I dia... OMIM:606721
Johanson-Blizzard Syndrome
Diabetes mellitus, Hypospadias, Urethrovaginal fistula, Increased VLDL cholesterol concentration,... OMIM:243800
Semilobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:220386
Alobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:93926
Lobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:93924
Treacher-Collins Syndrome
Hypoplasia of penis, Cryptorchidism, Abnormality of the adrenal glands, Hypoplasia of the thymus,... ORPHA:861
Chromosome 1P36 Deletion Syndrome, Distal
Hypospadias, Ectopic kidney, Cryptorchidism, Congenital hypothyroidism, Gastroesophageal reflux, ... OMIM:607872
Genitopatellar Syndrome
Multicystic kidney dysplasia, Cryptorchidism, Dysphagia, Micropenis, Hypothyroidism, Hydronephrosis OMIM:606170
Pallister-Hall Syndrome
Decreased testicular size, Thyroid hypoplasia, Hypopituitarism, Hypospadias, Unilateral renal age... ORPHA:672
Microphthalmia, Syndromic 6
Female hypogonadism, Adrenal hypoplasia, Cryptorchidism, Renal hypoplasia, Anterior hypopituitari... OMIM:607932
Microphthalmia, Syndromic 2
Cryptorchidism, Hypothyroidism, Hypospadias, Adrenal insufficiency OMIM:300166
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Congenital hypothyroidism OMIM:271510
Autosomal Recessive Hypophosphatemic Rickets
Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphatemia, Hypocalcemic tetany, R... ORPHA:289176
Down Syndrome
Hypothyroidism OMIM:190685
Doors Syndrome
Increased urine alpha-ketoglutarate concentration, Adrenal hyperplasia, Congenital hypothyroidism... ORPHA:79500
Alström Syndrome
Urinary incontinence, Decreased response to growth hormone stimulation test, Functional abnormali... ORPHA:64
Sponastrime Dysplasia
Precocious puberty, Hypothyroidism, Hypospadias ORPHA:93357
Zttk Syndrome
Absent gallbladder, Polyuria, Unilateral renal agenesis, Chronic diarrhea, Horseshoe kidney OMIM:617140
Kabuki Syndrome 1
Crossed fused renal ectopia, Premature thelarche, Cryptorchidism, Micropenis, Congenital hypothyr... OMIM:147920
Peters Plus Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Crypto... ORPHA:709
Wiedemann-Rautenstrauch Syndrome
Recurrent urinary tract infections, Hyperthyroidism, Hypospadias, Hypogonadotropic hypogonadism, ... ORPHA:3455
Viss Syndrome
Chronic gastritis, Chronic diarrhea, Chronic constipation, Gastroesophageal reflux, Dysphagia, Hy... OMIM:619472
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Unilateral renal agenesis, Cryptorchidism,... OMIM:619503
Primrose Syndrome
Diabetes mellitus, Hypergonadotropic hypogonadism, Elevated circulating alpha-fetoprotein concent... OMIM:259050

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Slc26a7

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Slc26a7.

No publications found that use IMPC mice or data for Slc26a7.

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MGI Allele Allele Type Produced
Slc26a7tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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