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Gene: Cldn7 MGI:1859285

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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:
claudin 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 Cldn7 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 Cldn7 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Edema, Renal salt wasting, Increas... OMIM:613090
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Renal salt wasting, Hyperkalemia, Dehydration, Hyperactive renin-angiotensin system... OMIM:264350
Bartter Syndrome, Type 3
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... OMIM:607364
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Edema, ... OMIM:602522
Bartter Syndrome, Type 1, Antenatal
Hyperparathyroidism, Increased serum prostaglandin E2, Polyhydramnios, Renal salt wasting, Dehydr... OMIM:601678
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Increased circulating corticosterone level, Renal salt wasting, Decreased circulati... OMIM:610600
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Bartter Syndrome, Type 2, Antenatal
Increased serum prostaglandin E2, Polyhydramnios, Renal salt wasting, Dehydration, Nephrocalcinos... OMIM:241200
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Postnatal growth retardation, Hyperkalemia, Dehydration, Abnormal circulating corti... ORPHA:556030
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Dehydration, Hyperactive renin-angiotensin system, Hyperaldosteronism... OMIM:177735
Hypercalcemia, Infantile, 1
Failure to thrive, Polyuria, Hypercalcemia, Decreased circulating parathyroid hormone level, Neph... OMIM:143880
Vitamin B12-Responsive Methylmalonic Acidemia
Renal insufficiency, Hyperammonemia, Dehydration, Failure to thrive, Anemia ORPHA:28
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Renal salt wasting, Hyperkalemia, Dehydration, Growth delay, Increased circulating ... OMIM:203400
Transaldolase Deficiency
Abnormality of the kidney, Edema, Thrombocytopenia, Hydrops fetalis, Hepatosplenomegaly, Telangie... ORPHA:101028
Combined Malonic And Methylmalonic Aciduria
Failure to thrive, Methylmalonic aciduria, Dehydration OMIM:614265
Transient Neonatal Diabetes Mellitus
Small for gestational age, Abnormality of the kidney, Maternal diabetes, Maturity-onset diabetes ... ORPHA:99886
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Polyhydramnios, Dehydration, Growth delay, Hypochloremia, Hypokalemia, Hyperactive ... OMIM:214700
Hypokalemic Tubulopathy And Deafness
Hyperaldosteronism, Increased circulating renin level, Renal salt wasting OMIM:619406
Combined Oxidative Phosphorylation Deficiency 36
Hyperalaninemia, Premature skin wrinkling, Failure to thrive, Aciduria OMIM:617950
Adrenal Hypoplasia, Congenital
Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypopl... OMIM:300200
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypercalciuria, Dehydration, Nephrocalcinosis, Growth delay, Hypokalemia, Distal renal tubular ac... OMIM:602722
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Dehydration, Hyperaldosteronism, Increased circulating renin level OMIM:620126
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Dehydration, Hyperaldosteronism, Increased circulating renin level OMIM:620125
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Pancytopenia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Hypomag... OMIM:613845
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Hydrops ... OMIM:613673
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Adrenocorticotropic hormone excess, Adrenal insufficiency, Hyperaldosteronism, Renal salt wasting OMIM:613743
Bartter Syndrome Type 4
Polyhydramnios, Renal salt wasting, Dehydration, Nephrocalcinosis, Increased circulating renin le... ORPHA:89938
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... OMIM:614817
East Syndrome
Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Hyperaldosteronism, Increased... ORPHA:199343
Isobutyryl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria, Dehydration, Decreased c... ORPHA:79159
Familial Renal Glucosuria
Recurrent urinary tract infections, Elevated hemoglobin A1c, Moderate postnatal growth retardatio... ORPHA:69076
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Failure to thrive in infancy, Proportionate short stature, Glucocortocoid-insensiti... ORPHA:171876
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Plethora, Dorsocervical fat pad, Paradoxical increased cortisol... ORPHA:189427
Methylmalonyl-Coa Epimerase Deficiency
Ketonuria, Dehydration, Elevated circulating palmitoleylcarnitine concentration, Methylmalonic ac... OMIM:251120
Alg8-Cdg
Hyponatremia, Failure to thrive, Small for gestational age, Abnormality of subcutaneous fat tissu... ORPHA:79325
Central Diabetes Insipidus
Hyponatremia, Dehydration, Weight loss, Failure to thrive, Diabetes insipidus, Nocturia ORPHA:178029
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Renal insufficiency, Thrombocytopenia, Splenomegaly, Hyperammonemia, Dehydration, Neutropenia, Fa... ORPHA:79312
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... OMIM:612925
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Intrauterine growth retardation, Dehydration, Transient neonatal diabet... OMIM:601410
Combined Malonic And Methylmalonic Acidemia
Dicarboxylic acidemia, Methylmalonic acidemia, Dicarboxylic aciduria, Methylmalonic aciduria, Deh... ORPHA:289504
Combined Oxidative Phosphorylation Deficiency 34
Pancytopenia, Hypergonadotropic hypogonadism, Elevated circulating thyroid-stimulating hormone co... OMIM:617872
Tempi Syndrome
Transudative pleural effusion, Abnormality of the kidney, Facial erythema, Telangiectasia, Increa... ORPHA:284227
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... OMIM:612926
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased... OMIM:620085
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... OMIM:612924
Wolcott-Rallison Syndrome
Hyponatremia, Renal insufficiency, Decreased body weight, Short stature, Neonatal insulin-depende... ORPHA:1667
Gaisböck Syndrome
Plethora, Hypertriglyceridemia, Diabetes mellitus, Overweight, Splenomegaly, Increased mean corpu... ORPHA:90041
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Polyuria, Hypercalciuria, Hypokalemia, Hyperaldosteronism, Decreased circula... OMIM:613677
Cystinosis
Renal insufficiency, Proteinuria, Short stature, Nephrogenic diabetes insipidus, Dehydration, Ren... ORPHA:213
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Short stature, Polyuria, Renal salt wasting, Enuresis, Hypokalemia, Hyperaldosteronism, Increased... OMIM:612780
Reticular Dysgenesis
Abnormality of neutrophils, Dehydration, Weight loss, Skin ulcer, Leukopenia, Failure to thrive, ... ORPHA:33355
Hyperaldosteronism, Familial, Type Ii
Hypokalemia, Hyperaldosteronism OMIM:605635
Propionic Acidemia
Pancytopenia, Short stature, Increased level of hippuric acid in urine, Thrombocytopenia, Hypergl... OMIM:606054
Drug-Induced Lupus Erythematosus
Petechiae, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive pr... ORPHA:231111
Erythrocytosis, Familial, 2
Plethora, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, Failure to t... OMIM:263400
Cog7-Cdg
Small for gestational age, Elevated circulating creatine kinase concentration, Abnormality of the... ORPHA:79333
Vitamin B12-Unresponsive Methylmalonic Acidemia
Renal insufficiency, Macrocytic anemia, Thrombocytopenia, Hyperammonemia, Dehydration, Leukopenia... ORPHA:27
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Hereditary Renal Hypouricemia
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri... ORPHA:94088
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Stage 5 chronic kidney disease, Hyperammonemia, Methylmalonic aciduria, D... OMIM:251000
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Adrenogenital syndrome, Abnormality of the urinary system, Hyperaldosteronis... OMIM:103900
Juvenile Nephropathic Cystinosis
Dehydration, Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuri... ORPHA:411634
Primary Fanconi Renotubular Syndrome
Bicarbonaturia, Dehydration, Low-molecular-weight proteinuria, Hypophosphatemic rickets, Hypouric... ORPHA:3337
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Jaundice, Schistocytos... OMIM:274150
Methylmalonic Aciduria, Cblb Type
Methylmalonic acidemia, Pancytopenia, Ketonuria, Thrombocytopenia, Methylmalonic aciduria, Hypera... OMIM:251110
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... ORPHA:251274
Glucose-Galactose Malabsorption
Renal insufficiency, Failure to thrive, Hypercalcemia, Nephrolithiasis, Dehydration, Weight loss,... ORPHA:35710
Erythrocytosis, Familial, 1
Plethora, Splenomegaly, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit OMIM:133100
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Reticulocytopenia, Hydrops fetalis, Dehydration, 3-Methylglutaric aciduria,... OMIM:557000
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Postnatal growth retardation, Hyperkalemia, Abnormal circulating corticosterone lev... ORPHA:556037
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Small for gestational age, Conjugated hyperbilirubinemia, Nephrogenic diabetes insipidus, Jaundic... OMIM:208085
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin, Elevated circulating erythropoietin con... OMIM:611783
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Pericardial effusion, Abnormal renal tubular resorption, Hypercalciuria, Hyperprostaglandinuria, ... ORPHA:73224
Methylmalonic Aciduria, Cbla Type
Methylmalonic acidemia, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Th... OMIM:251100
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin, Elevated circulating erythropoietin con... OMIM:617907
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Decreased circulating cortisol level, Hypospadias, Renal salt wasting, Increased ci... ORPHA:90791
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Schistocytosis, Elevated circ... OMIM:235400
Paternal Uniparental Disomy Of Chromosome 1
Anhidrosis, Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Short stature, ... ORPHA:251004
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Ed... ORPHA:103910
Chronic Hiccup
Dehydration, Weight loss ORPHA:396
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Abnormal circulating renin, Nephrolithiasis, Hypokalemia, Hyperaldosteronism... ORPHA:369929
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... ORPHA:404
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldosteronism, Neoplasm of t... ORPHA:231625
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Myoglobinuria, Dehydration OMIM:602199
Hyperchlorhidrosis, Isolated
Hyponatremia, Hypernatremic dehydration, Failure to thrive, Hyperkalemia OMIM:143860
Distal Renal Tubular Acidosis
Hemolytic anemia, Hyperphosphaturia, Failure to thrive, Short stature, Hypocitraturia, Nephrolith... ORPHA:18
Diarrhea 4, Malabsorptive, Congenital
Failure to thrive, Dehydration OMIM:610370
Isovaleric Acidemia
Pancytopenia, Hyperglycinuria, Dehydration, Leukopenia, Thrombocytopenia OMIM:243500
Nephrogenic Diabetes Insipidus
Hypernatremic dehydration, Renal insufficiency, Hydroureter, Short stature, Failure to thrive, Po... ORPHA:223
Glucose/Galactose Malabsorption
Failure to thrive, Hypertonic dehydration, Glycosuria OMIM:606824
Aquagenic Palmoplantar Keratoderma
Excessive skin wrinkling on dorsum of hands and fingers, Palmoplantar hyperhidrosis, Edema ORPHA:498359
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Mild postnatal growth retardation, Short stature, Bicarbonaturia, Bicarbonate-... ORPHA:47159
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldoste... ORPHA:231580
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormality of thyroid physiology, Abnormal blood ion concentration, Abnormal ... ORPHA:411629
Dermatoleukodystrophy
Premature skin wrinkling, Progeroid facial appearance OMIM:221790
Oligomeganephronia
Renal insufficiency, Proteinuria, Small for gestational age, Unilateral renal agenesis, Abnormal ... ORPHA:2260
Carnitine Deficiency, Systemic Primary
Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Hyperammonemia, Dehydr... OMIM:212140
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Failure to thrive, Short stature, Polyuria, Nephrogenic diabetes insipidus, Megacystis, Hypertoni... OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Failure to thrive, Short stature, Polyuria, Megacystis, Hypertonic dehydration, Hypernatremia, Di... OMIM:304800
Gitelman Syndrome
Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Hyperhidrosis, Tubulointers... ORPHA:358
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Hypoammonemia, Dehydration, Oligosacchariduria, Nephrocalcinosis, Aminoacidu... ORPHA:534
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Abnormal circulating renin, Hypokalemia, Dexamethasone-suppressible primary ... ORPHA:403
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Ketonuria, Hyperammonemia, Dehydration, Growth delay, Failure to thrive OMIM:615453
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Cystinosis, Nephropathic
Dehydration, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophospha... OMIM:219800
Lysosomal Acid Lipase Deficiency
Adrenal calcification, Bone-marrow foam cells, Renal salt wasting, Vacuolated lymphocytes, Dehydr... ORPHA:275761
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... ORPHA:289548
Osteootohepatoenteric Syndrome
Proteinuria, Grade II vesicoureteral reflux, Dehydration, Weight loss, Hypokalemia, Increased ser... OMIM:619377
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Short stature, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosc... OMIM:308990
Dopamine Beta-Hydroxylase Deficiency
Elevated urinary dopamine level, Elevated circulating creatinine concentration, Nocturia, Dehydra... ORPHA:230
Lamellar Ichthyosis
Renal insufficiency, Short stature, Lack of skin elasticity, Dehydration, Dry skin ORPHA:313
Beta-Ketothiolase Deficiency
Ketonuria, Edema, Leukocytosis, Hyperammonemia, Dehydration, Weight loss, Hyperuricemia, Pallor, ... ORPHA:134
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Dehydration, Increa... ORPHA:168558
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentr... ORPHA:49041
Pearson Syndrome
Decreased response to growth hormone stimulation test, Hydrops fetalis, Renal cyst, Dehydration, ... ORPHA:699
Elastoderma
Premature skin wrinkling, Cutis laxa ORPHA:228240
Leprechaunism
Reduced subcutaneous adipose tissue, Postnatal growth retardation, Long penis, Hyperinsulinemia, ... ORPHA:508
Cutis Laxa, Autosomal Dominant 3
Unilateral renal agenesis, Postnatal growth retardation, Cutis laxa, Intrauterine growth retardat... OMIM:616603
Cutis Laxa, Autosomal Dominant 2
Premature skin wrinkling, Cutis laxa OMIM:614434
Netherton Syndrome
Short stature, Ectopic kidney, Dehydration, Urticaria, Aminoaciduria, Dry skin, Hydronephrosis ORPHA:634
Acquired Partial Lipodystrophy
Glomerulopathy, Proteinuria, Progeroid facial appearance, Lymphocytosis, Microscopic hematuria ORPHA:79087
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
3-Hydroxy-3-Methylglutaric Aciduria
Acute pancreatitis, Ketonuria, Edema, Leukocytosis, Jaundice, Hyperammonemia, Dehydration, Weight... ORPHA:20
Uremic Pruritus
Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k... ORPHA:94059
Secondary Short Bowel Syndrome
Low plasma citrulline, Abnormal blood ion concentration, Dehydration, Weight loss, Growth delay, ... ORPHA:95427
Glycogen Storage Disease Vi
Hypertriglyceridemia, Failure to thrive in infancy, Postnatal growth retardation, Hyperlipidemia,... OMIM:232700
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Small for gestational age, Short stature, Progeroid facial appearance, Intrauterine growth retard... ORPHA:50811
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Polyuria, Dehydration, Proximal tubulopathy, Type I diabetes mellitus, Failure to thrive OMIM:560000
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Growth delay, Dehydration OMIM:251850
Vipoma
Dehydration, Follicular thyroid carcinoma, Intermittent jaundice, Hypokalemia, Increased circulat... ORPHA:97282
Combined Oxidative Phosphorylation Deficiency 47
Intrauterine growth retardation, Failure to thrive, Dehydration OMIM:618958
Ectopic Aldosterone-Producing Tumor
Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Adrenocortical adenoma, Decre... ORPHA:231632
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Ketonuria, Elevated circulating growth hormone concentration, Large for gestational age, Multiple... ORPHA:79644
Cockayne Syndrome Type 1
Renal insufficiency, Proteinuria, Progeroid facial appearance, Postnatal growth retardation, Hypo... ORPHA:90321
Cog5-Cdg
Neurogenic bladder, Short stature, Urinary incontinence, Hepatosplenomegaly, Premature skin wrink... ORPHA:263487
Hyperaldosteronism, Familial, Type Iv
Hyperaldosteronism OMIM:617027
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Primary hyperaldosteronism, Hypokalemia, Nephrolithiasis, Decreased circulating renin level OMIM:615474
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Inflammatory Skin And Bowel Disease, Neonatal, 2
Failure to thrive, Polyhydramnios, Dehydration OMIM:616069
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Anuria, Leukocytosis, Schistocytosis, Elevated circulating creatin... ORPHA:90038
Paroxysmal Nocturnal Hemoglobinuria
Hemoglobinuria, Leukopenia, Renal Fanconi syndrome, Erythroid hyperplasia, Hemolytic anemia, Reti... ORPHA:447
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Decreased circulating cortisol level, Renal salt wasting, Dehydration, Premature adrenarche, Hypo... ORPHA:90794
Hypercalcemia, Infantile, 2
Failure to thrive, Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcin... OMIM:616963
Acute Interstitial Pneumonia
Cyanosis, Elevated circulating C-reactive protein concentration, Pericardial effusion, Elevated c... ORPHA:79126
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Andersen-Tawil Syndrome
Short stature, Renal hypoplasia, Renal tubular dysfunction, Growth delay, Hyperaldosteronism ORPHA:37553
Familial Cold Urticaria
Urticaria, Erythema, Dehydration, Hyperhidrosis ORPHA:47045
Thymic Neuroendocrine Tumor
Calcium nephrolithiasis, Hypercalcemia, Pituitary null cell adenoma, Pancreatic islet cell adenom... ORPHA:97289
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Hypomethioninemia, Glomerulopathy, Ketonuria, Renal insufficiency, Megalo... ORPHA:79282
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Decreased circulating cortisol level, Renal salt wasting, Precocious puberty, Hyper... OMIM:614736
Laron Syndrome
Hypoplasia of penis, Severe short stature, Prematurely aged appearance, Abnormality of the endocr... ORPHA:633
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Cholera
Hyponatremia, Abnormality of renal excretion, Abnormal blood ion concentration, Dehydration, Hypo... ORPHA:173
Shigellosis
Hyponatremia, Failure to thrive in infancy, Hemolytic-uremic syndrome, Leukocytosis, Urethritis, ... ORPHA:810
Secondary Intestinal Lymphangiectasia
Intestinal lymphedema, Edema, Decreased prealbumin level, Lymphedema, Reduced circulating transfe... ORPHA:90363
Craniofaciofrontodigital Syndrome
Prominent superficial veins, Short stature, Polyhydramnios, Edema, Pericardial effusion, Large fo... ORPHA:363705
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... OMIM:610489
Ataxia-Telangiectasia
Lymphopenia, Diabetes mellitus, Short stature, Prematurely aged appearance, Telangiectasia of the... ORPHA:100
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Ketonuria, Neonatal insulin-dependent diabetes mellitus, Abnormality of the up... ORPHA:99885
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Absence of renal corticomedullary differentiation, Splenomegaly, Multiple sm... OMIM:263200
3-Methylglutaconic Aciduria, Type Viib
Rhizomelia, Polyhydramnios, Dehydration, Growth delay, Leukopenia, 3-Methylglutaconic aciduria, N... OMIM:616271
Neuroleptic Malignant Syndrome
Hyponatremia, Proteinuria, Elevated circulating creatine kinase concentration, Urinary incontinen... ORPHA:94093
Acrogeria
Telangiectasia of the skin, Short stature, Prematurely aged appearance, Skin ulcer, Excessive wri... ORPHA:2500
Idiopathic Hypercalciuria
Parathormone-independent increased renal tubular calcium reabsorption, Calcium oxalate nephrolith... ORPHA:2197
Microphthalmia, Syndromic 8
Premature skin wrinkling OMIM:601349
Apparent Mineralocorticoid Excess
Renal insufficiency, Short stature, Abnormal urine sodium concentration, Nephrocalcinosis, Hypoka... ORPHA:320
Colchicine Poisoning
Hyponatremia, Renal insufficiency, Leukocytosis, Abnormal blood ion concentration, Oliguria, Hypo... ORPHA:31824
Arthrogryposis Multiplex Congenita 5
Normocytic anemia, Polyhydramnios, Acanthocytosis, Growth delay, Poikilocytosis, Intrauterine gro... OMIM:618947
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Hypospadias, Adrenogenital syndrome, Renal salt wasting OMIM:201710
Short Syndrome
Prominent superficial veins, Small for gestational age, Insulin-resistant diabetes mellitus, Birt... OMIM:269880
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Episodic hyperhidrosis, Elevated circulating creatinine concentration, Growth delay, Increased bl... OMIM:223900
Hyperoxaluria, Primary, Type I
Hyperoxaluria, Renal insufficiency, Cutis marmorata, Calcium oxalate nephrolithiasis, Dehydration... OMIM:259900
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Lacticaciduria,... ORPHA:3008
Coenzyme Q10 Deficiency, Primary, 8
Small for gestational age, Postnatal growth retardation, Elevated circulating creatinine concentr... OMIM:616733
Cerebrooculofacioskeletal Syndrome 1
Failure to thrive, Small for gestational age, Dehydration OMIM:214150
Dent Disease 2
Short stature, Elevated circulating creatine kinase concentration, Chronic kidney disease, Hyperc... OMIM:300555
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... OMIM:615954
Xfe Progeroid Syndrome
Renal insufficiency, Severe short stature, Proteinuria, Failure to thrive, Cachexia, Prematurely ... OMIM:610965
Orthostatic Hypotension 1
Reduced circulating prolactin concentration, Hypomagnesemia, Nocturia, Increased blood urea nitrogen OMIM:223360
Hypomagnesemia 3, Renal
Recurrent urinary tract infections, Failure to thrive, Polyuria, Hypocitraturia, Renal magnesium ... OMIM:248250
Multiple Endocrine Neoplasia, Type Iia
Hyperparathyroidism, Thyroid C cell hyperplasia, Elevated urinary norepinephrine level, Elevated ... OMIM:171400
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Edema, Abnormal blood ion concentration, Renal cyst, Dehydration, Aplasia/Hyp... ORPHA:79404
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Abnormal circulating aldosterone, Reduced blood urea nitrogen, Hypernatriuria, Hypo... OMIM:300539
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:85450
Congenital Short Bowel Syndrome
Failure to thrive, Dehydration, Steatorrhea OMIM:615237
Cockayne Syndrome
Urinary incontinence, Renal hypoplasia, Nephrotic syndrome, Delayed puberty, Neurogenic bladder, ... ORPHA:191
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypospadias, Hypercalcemia, Decreased response to growth hormone stimulation test, Adrenal hypopl... OMIM:614732
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Mild postnatal growth retardation, Small for gestational age, ... OMIM:224120
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr... ORPHA:91500
Microvillus Inclusion Disease
Nephrocalcinosis, Abnormal renal physiology, Dehydration ORPHA:2290
Geroderma Osteodysplasticum
Severe short stature, Progeroid facial appearance, Neonatal wrinkled skin of hands and feet, Cuti... OMIM:231070
Myoclonic-Astatic Epilepsy
Premature skin wrinkling ORPHA:1942
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Fanconi Renotubular Syndrome 2
Renal insufficiency, Proteinuria, Short stature, Generalized aminoaciduria, Hypercalciuria, Renal... OMIM:613388
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Short stature, Elevated circulating creatinine concentration, Growth delay, Gl... OMIM:615605
Familial Hypoaldosteronism
Hyponatremia, Decreased urinary potassium, Renal salt wasting, Hyperkalemia, Proximal renal tubul... ORPHA:427
Hypocalcemia, Autosomal Dominant 1
Short stature, Decreased circulating parathyroid hormone level, Nephrolithiasis, Hypercalciuria, ... OMIM:601198
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... ORPHA:652
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hyperparathyroidism, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Renal tubular acidosis, Fai... OMIM:239199
Goodpasture Syndrome
Renal insufficiency, Cyanosis, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuri... OMIM:233450
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Short stature, Anemia, Premature graying of hair, Excessive wrinkl... ORPHA:3322
46,Xy Sex Reversal 4
Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Hydronephrosis, In... OMIM:154230
Acute Adrenal Insufficiency
Hyponatremia, Normocytic anemia, Renal insufficiency, Decreased circulating cortisol level, Hyper... ORPHA:95409
Autosomal Agammaglobulinemia
Failure to thrive, Dehydration, Neutropenia ORPHA:33110
Enteric Anendocrinosis
Type I diabetes mellitus, Dehydration ORPHA:83620
Fanconi-Bickel Syndrome
Reduced subcutaneous adipose tissue, Hyperphosphaturia, Ketonuria, Hypouricemia, Proteinuria, Pos... OMIM:227810
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Redundant neck skin, Short stature, Redundant skin, Postnatal growth retardation, Abnormal subcut... ORPHA:357074
Microcephalic Primordial Dwarfism, Montreal Type
Severe short stature, Prematurely aged appearance, Hyperhidrosis, Premature graying of hair, Dry ... ORPHA:2617
Osteopetrosis, Autosomal Recessive 9
Stage 3 chronic kidney disease, Hyperparathyroidism, Postnatal growth retardation, Elevated circu... OMIM:620366
Fg Syndrome Type 1
Hypospadias, Short stature, Facial wrinkling, Small pituitary gland, Slender build ORPHA:93932
Pigmented Nodular Adrenocortical Disease, Primary, 4
Diabetes mellitus, Dorsocervical fat pad, Adrenal hyperplasia, Increased body weight, Increased c... OMIM:615830
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Diabetes mellitus, Proteinuria, Hypouricemia, Short stature, Large for gestati... OMIM:616026
Progeria-Short Stature-Pigmented Nevi Syndrome
Decreased serum testosterone concentration, Hypospadias, Short stature, Small for gestational age... ORPHA:2959
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Postnatal growth retardation, Abnormal erythrocyte morphology,... ORPHA:288
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ... ORPHA:564178
Addison Disease
Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasi... ORPHA:85138
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Small for gestational age, Short stature, Progeroid facial appearance, Intrauterine growth retard... OMIM:608154
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Autosomal Dominant Cutis Laxa
Redundant neck skin, Prematurely aged appearance, Redundant skin, Unilateral renal agenesis, Post... ORPHA:90348
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Short s... OMIM:134600
Lipodystrophy, Familial Partial, Type 7
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Small for gestational age, Polyuria, L... OMIM:606721
Corticosteroid-Binding Globulin Deficiency
Hypokalemia, Decreased circulating cortisol level, Anemia, Decreased urinary potassium OMIM:611489
Werner Syndrome
Hypertriglyceridemia, Short stature, Elevated hemoglobin A1c, Prematurely aged appearance, Proger... OMIM:277700
Familial Glucocorticoid Deficiency
Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Recurrent urinary tract... ORPHA:361
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating osteocalcin level, Hyperphosphaturia, Short stature, Decreased circulating ... ORPHA:157215
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Pulmonary carcinoid tumor, Papillary renal cell carcinoma, Premature grayin... ORPHA:363618
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Familial Isolated Hyperparathyroidism
Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Primary hyperparathyroidism, Hypercalciuri... ORPHA:99879
Ogden Syndrome
Redundant neck skin, Redundant skin, Maternal diabetes, Lymphedema, Iron deficiency anemia, Polyc... OMIM:300855
Congenital Disorder Of Glycosylation, Type Iie
Neurogenic bladder, Short stature, Elevated circulating creatine kinase concentration, Splenomega... OMIM:608779
Cushing Disease
Plethora, Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Increased body weight, Pedal... ORPHA:96253
Nicolaides-Baraitser Syndrome
Excessive wrinkled skin, Severe short stature ORPHA:3051
Thanatophoric Dysplasia Type 1
Redundant skin, Abnormality of the kidney, Polyhydramnios, Increased nuchal translucency, Excessi... ORPHA:1860
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... OMIM:610475
Marburg Hemorrhagic Fever
Reticulocytosis, Renal insufficiency, Lymphopenia, Petechiae, Elevated circulating creatine kinas... ORPHA:99826
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Extramedullary hematopoiesis, Conjugated hyperbilirubinemia, Postnatal growth retarda... ORPHA:79303
Cutis Laxa, Autosomal Recessive, Type Iib
Prominent superficial veins, Redundant skin, Lack of skin elasticity, Excessive wrinkled skin, In... OMIM:612940
Zollinger-Ellison Syndrome
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Elevated circulating parathyroid hormo... ORPHA:913
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Polyuria, Polyhydramnios, Hypercalciuria, Hypochloremia, Hypokalemia, Increased cir... OMIM:300971
Keppen-Lubinsky Syndrome
Progeroid facial appearance, Polyhydramnios, Postnatal growth retardation, Premature skin wrinkli... ORPHA:435628
Progeroid Syndrome, Petty Type
Reduced subcutaneous adipose tissue, Short stature, Redundant skin, Prematurely aged appearance, ... ORPHA:2963
Congenital Tufting Enteropathy
Steatorrhea, Failure to thrive, Dehydration, Weight loss ORPHA:92050
Fontaine Progeroid Syndrome
Reduced subcutaneous adipose tissue, Dermal translucency, Prominent superficial veins, Short stat... OMIM:612289
Dent Disease 1
Renal insufficiency, Hyperphosphaturia, Short stature, Chronic kidney disease, Stage 5 chronic ki... OMIM:300009
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating ACTH concentration, Truncal obesity, Increased circula... OMIM:219080
Dend Syndrome
Elevated hemoglobin A1c, Dehydration ORPHA:79134
Mccune-Albright Syndrome
Abnormal endocrine physiology, Hyperphosphaturia, Pancytopenia, Hyperthyroidism, Elevated circula... ORPHA:562
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Medullary nephrocalcinosis, Hypercalciuria, Subcutaneous calcification OMIM:617993
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hyperphosphaturia, Hypercalcemia, Polyuria, Splenomegaly, Primary hyperparathyroidism... OMIM:239200
Somatostatinoma
Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormone concentration, Abnormality ... ORPHA:97283
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... ORPHA:730
Stuve-Wiedemann Syndrome 1
Hyperhidrosis, Premature skin wrinkling, Short stature, Oligohydramnios OMIM:601559
Glucagonoma
Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormone concentration, Acanthocytos... ORPHA:97280
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Small for gestational age, Conjugated hyperbilirubinemia, Postnatal... OMIM:617093
Medullary Sponge Kidney
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria ORPHA:1309
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Postnatal... ORPHA:93110
Pituitary Apoplexy
Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... ORPHA:95613
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypokalemia, Hypomagnesemia, Renal potassium... OMIM:618314
Wiedemann-Rautenstrauch Syndrome
Decreased response to growth hormone stimulation test, Wide penis, Vesicoureteral reflux, Dilatat... ORPHA:3455
Nelson Syndrome
Increased urinary cortisol level, Pituitary corticotropic cell adenoma, Increased circulating pro... ORPHA:199244
Cystic Fibrosis
Hypercalciuria, Dehydration, Hepatosplenomegaly, Steatorrhea, Failure to thrive, Pancreatitis, Ex... OMIM:219700
Nicolaides-Baraitser Syndrome
Short stature, Growth delay, Excessive wrinkled skin, Periorbital wrinkles, Mild short stature, P... OMIM:601358
Autosomal Recessive Cutis Laxa Type 2A
Postnatal growth retardation, Intrauterine growth retardation, Excessive wrinkled skin, Progeroid... ORPHA:357058
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hyperphosphaturia, Hypercalciuria, Nephrolithiasis, Renal phosphate wasting, Hypophosphatemia OMIM:612286
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypospadias, Adrenogenital syndrome, Renal salt wasting OMIM:201910
Microsporidiosis
Cachexia, Abnormality of the spleen, Abnormality of the parathyroid gland, Urethritis, Prostatiti... ORPHA:2552
Focal Facial Dermal Dysplasia Type Iii
Prematurely aged appearance, Redundant skin, Abnormality of the upper urinary tract ORPHA:1807
Cataract-Intellectual Disability-Hypogonadism Syndrome
Hypogonadotropic hypogonadism, Short stature, Prematurely aged appearance ORPHA:1387
Trichothiodystrophy 5, Nonphotosensitive
Short stature, Cutis marmorata, Progeroid facial appearance, Intrauterine growth retardation, Mic... OMIM:300953
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature pubarche, Short stature, Premature thelarche, Ren... ORPHA:90795
Cutis Laxa, Autosomal Recessive, Type Iia
Redundant skin, Cutis laxa, Excessive wrinkled skin, Intrauterine growth retardation, Failure to ... OMIM:219200
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Prominent scalp veins, Hypertriglyceridemia, Hypospadias, Sh... OMIM:264090
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Renal phosphate wasting, Short stature, Hypophosphatemia OMIM:193100
Werner Syndrome
Renal neoplasm, Prematurely aged appearance, Short stature, Telangiectasia of the skin, Lack of s... ORPHA:902
Dent Disease
Renal insufficiency, Hyperphosphaturia, Renal hypophosphatemia, Elevated circulating creatine kin... ORPHA:1652
Campomelia, Cumming Type
Multicystic kidney dysplasia, Prematurely aged appearance, Lymphedema, Hydrops fetalis, Multiple ... ORPHA:1318
Ppoma
Hypercalcemia, Elevated circulating growth hormone concentration, Abnormality of the thyroid glan... ORPHA:97278
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... OMIM:104200
Harlequin Ichthyosis
Dehydration ORPHA:457
Pseudoxanthoma Elasticum
Telangiectasia of the skin, Lack of skin elasticity, Nephrocalcinosis, Excessive wrinkled skin, B... ORPHA:758
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia OMIM:612287
Cushing Syndrome Due To Ectopic Acth Secretion
Plethora, Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Neoplasm of the thymus, Panc... ORPHA:99889
Bangstad Syndrome
Short stature, Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cort... ORPHA:1227
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenital... ORPHA:2239
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Short stature, Congenital adrenal hyperplasia, Long penis, Decreased circulating aldosterone leve... OMIM:202010
Multiple Endocrine Neoplasia, Type I
Hypercalcemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, ... OMIM:131100
Hypomagnesemia 2, Renal
Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia OMIM:154020
Hypophosphatemic Rickets And Hyperparathyroidism
Hyperparathyroidism, Short stature, Hypercalcemia, Parathyroid hyperplasia, Renal phosphate wasti... OMIM:612089
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Short stature, Prematurely aged appearance, Progeroid facial appearance, Hyperlipidem... ORPHA:90154
Helix Syndrome
Anhidrosis, Renal insufficiency, Hyperparathyroidism, Polyuria, Hypermagnesemia, Nephrolithiasis,... OMIM:617671
Hypophosphatemic Rickets, X-Linked Recessive
Renal insufficiency, Short stature, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Hypo... OMIM:300554
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro... OMIM:248190
Grfoma
Hypercalcemia, Elevated circulating growth hormone concentration, Neoplasm of the thymus, Abnorma... ORPHA:97261
Netherton Syndrome
Hypernatremic dehydration, Angioedema, Hypereosinophilia, Urticaria, Failure to thrive OMIM:256500
De Barsy Syndrome
Short stature, Progeroid facial appearance, Postnatal growth retardation, Prominent veins on trun... ORPHA:2962
Cardiofaciocutaneous Syndrome
Short stature, Redundant skin, Failure to thrive in infancy, Lymphedema, Excessive wrinkled skin,... ORPHA:1340
Short Syndrome
Excessive wrinkled skin, Diabetes mellitus, Severe short stature, Weight loss ORPHA:3163
Mandibuloacral Dysplasia With Type B Lipodystrophy
Prominent superficial veins, Decreased adipose tissue around neck, Progeroid facial appearance, H... OMIM:608612
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla... ORPHA:84081
Opitz-Kaveggia Syndrome
Facial wrinkling, Hypospadias, Short stature OMIM:305450
Dietary Iron Overload Disease
Diabetes mellitus, Increased circulating ferritin concentration, Elevated transferrin saturation,... ORPHA:139507
Alternating Hemiplegia Of Childhood
Dehydration, Hyperhidrosis, Pallor, Failure to thrive, Flushing ORPHA:2131
Cockayne Syndrome B
Reduced subcutaneous adipose tissue, Anhidrosis, Renal insufficiency, Severe short stature, Prote... OMIM:133540
Primary Hyperoxaluria Type 3
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... ORPHA:93600
Bronchial Neuroendocrine Tumor
Elevated circulating growth hormone concentration, Increased circulating ACTH level, Pulmonary ca... ORPHA:97287
Hypocalciuric Hypercalcemia, Familial, Type I
Hyperparathyroidism, Hypercalcemia, Hypermagnesemia, Nephrolithiasis, Hypercalciuria, Hypocalciur... OMIM:145980
Focal Facial Dermal Dysplasia 3, Setleis Type
Aged leonine appearance OMIM:227260
Barber-Say Syndrome
Premature skin wrinkling, Dry skin, Redundant skin, Dermal translucency OMIM:209885
Acquired Generalized Lipodystrophy
Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Progeroid facial appearance, Insulin-resis... ORPHA:79086
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Recon Progeroid Syndrome
Short stature, Progeroid facial appearance, Livedo reticularis, Dry skin, Growth delay, Anemia, S... OMIM:620370
Gapo Syndrome
Prematurely aged appearance, Short stature, Palpebral edema, Nephrolithiasis, Growth delay, Hypog... ORPHA:2067
Cockayne Syndrome A
Reduced subcutaneous adipose tissue, Anhidrosis, Renal insufficiency, Proteinuria, Short stature,... OMIM:216400
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Primary hyp... OMIM:145981
Gitelman Syndrome
Polyuria, Renal magnesium wasting, Growth delay, Enuresis, Hypokalemia, Increased circulating ren... OMIM:263800
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Excessive wrinkled skin, Neoplasm of the thyroid gland ORPHA:137608
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... ORPHA:3453
Mandibuloacral Dysplasia With Type A Lipodystrophy
Short stature, Prematurely aged appearance, Progeroid facial appearance, Hyperlipidemia, Lack of ... ORPHA:90153
Cutis Laxa, Autosomal Recessive, Type Iiib
Prominent superficial veins, Cutis laxa, Excessive wrinkled skin, Intrauterine growth retardation... OMIM:614438
Hutchinson-Gilford Progeria Syndrome
Prominent superficial blood vessels, Cyanosis, Female hypogonadism, Decreased serum leptin, Lack ... ORPHA:740
Down Syndrome
Prematurely aged appearance, Renal hypoplasia/aplasia, Obesity, Type II diabetes mellitus, Hypoth... ORPHA:870
Paternal Uniparental Disomy Of Chromosome 6
Neonatal insulin-dependent diabetes mellitus, Postnatal growth retardation, Precocious puberty, D... ORPHA:96191
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia, Hypercalciuria OMIM:242050
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Poor wound healing, Excessive wrinkled skin, Bladder diverticulum, Palmoplantar cutis laxa, Bruis... OMIM:225400
Atypical Werner Syndrome
Fasting hyperinsulinemia, Premature graying of hair, Renal neoplasm, Short stature, Prematurely a... ORPHA:79474
Noonan Syndrome With Multiple Lentigines
Short stature, Hypospadias, Abnormal localization of kidney, Growth delay, Excessive wrinkled ski... ORPHA:500
Glucocorticoid Resistance, Generalized
Increased circulating cortisol level, Increased circulating androstenedione concentration, Increa... OMIM:615962
Ablepharon-Macrostomia Syndrome
Premature skin wrinkling, Micropenis, Dry skin, Redundant skin OMIM:200110
Scleromyxedema
Abnormality of thyroid physiology, Aged leonine appearance, Elevated circulating creatine kinase ... ORPHA:167635
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Growth delay, Short stature, Progeroid facial appearance, Cutis laxa ORPHA:75496
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Prematurely aged appearance, Short stature, Cachexia, Dry skin, Urticaria, Cutaneous photosensiti... ORPHA:220295
Familial Hypocalciuric Hypercalcemia
Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increased renal ... ORPHA:405
Mccune-Albright Syndrome
Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... OMIM:174800
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Progeroid facial appearance, Hypogonadism, Type II diabetes mellitus, Type I diabetes mellitus, D... ORPHA:412057
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Reduced subcutaneous adipose tissue, Decreased HDL cholesterol concentration, Hypertriglyceridemi... ORPHA:280365
Wrinkly Skin Syndrome
Short stature, Postnatal growth retardation, Excessive skin wrinkling on dorsum of hands and fing... ORPHA:2834
Dermatosparaxis Ehlers-Danlos Syndrome
Excessive wrinkled skin, Severe short stature, Abnormality of subcutaneous fat tissue ORPHA:1901
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Hypothyroidism, Short stature, Progeroid facial appearance OMIM:617763
Fibrous Dysplasia Of Bone
Hyperthyroidism, Short stature, Hypercalcemia, Precocious puberty in females, Elevated circulatin... ORPHA:249
Wrinkly Skin Syndrome
Short stature, Redundant skin, Progeroid facial appearance, Neonatal wrinkled skin of hands and f... OMIM:278250
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Redundant skin, Progeroid facial appearance, Adrenal hypoplasia, Periorbital ed... OMIM:613177
Ehlers-Danlos Syndrome, Classic-Like, 2
Prominent superficial veins, Prematurely aged appearance, Redundant skin, Poor wound healing, Bru... OMIM:618000
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Reduced subcutaneous adipose tissue, Short stature, Prematurely aged appearance, Precocious puber... OMIM:619950
Saul-Wilson Syndrome
Prominent superficial veins, Short stature, Progeroid facial appearance, Postnatal growth retarda... OMIM:618150
Periodic Fever, Menstrual Cycle-Dependent
Increased circulating cortisol level OMIM:614674
Geroderma Osteodysplastica
Growth delay, Severe short stature, Prematurely aged appearance, Redundant skin ORPHA:2078
Enamel-Renal Syndrome
Increased circulating osteocalcin level, Renal insufficiency, Hypophosphaturia, Impaired renal co... ORPHA:1031
Ablepharon Macrostomia Syndrome
Hypoplasia of penis, Redundant skin, Growth delay, Excessive wrinkled skin, Dry skin ORPHA:920
Premature Aging Syndrome, Penttinen Type
Prominent superficial veins, Prematurely aged appearance, Elevated circulating thyroid-stimulatin... OMIM:601812
Seckel Syndrome
Intrauterine growth retardation, Prematurely aged appearance, Short stature, Cachexia ORPHA:808
Trichothiodystrophy
Prematurely aged appearance, Increased mean corpuscular hemoglobin concentration, Cutaneous photo... ORPHA:33364
Ataxia-Telangiectasia-Like Disorder 2
Conjunctival telangiectasia, Short stature, Absent pubertal growth spurt, Progeroid facial appear... OMIM:615919
Mandibuloacral Dysplasia Progeroid Syndrome
Hypertriglyceridemia, Proteinuria, Elevated hemoglobin A1c, Short stature, Progeroid facial appea... OMIM:619127
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Anhidrosis, Hypohidrotic ectodermal dysplasia, Periorbital wrinkles, Hypohidrosis OMIM:224900
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Decreased circulating c... OMIM:201750
Cockayne Syndrome Type 2
Intrauterine growth retardation, Male hypogonadism, Progeroid facial appearance ORPHA:90322
Marfanoid-Progeroid-Lipodystrophy Syndrome
Reduced subcutaneous adipose tissue, Progeroid facial appearance, Intrauterine growth retardation... OMIM:616914
Nestor-Guillermo Progeria Syndrome
Failure to thrive, Prominent superficial veins, Short stature, Progeroid facial appearance, Decre... OMIM:614008
Williams Syndrome
Hypoplasia of penis, Elevated circulating creatine kinase concentration, Redundant skin, Periorbi... ORPHA:904
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Short stature, Parotitis, Elevated... OMIM:256040
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Anhidrosis, Xerostomia, Ectodermal dysplasia, Periorbital wrinkles, Dry skin OMIM:614941
Cutis Laxa, Autosomal Dominant 1
Prematurely aged appearance, Redundant skin, Progeroid facial appearance, Poor wound healing, Cut... OMIM:123700
Lenz-Majewski Hyperostotic Dwarfism
Abnormal penis morphology, Severe short stature, Hypospadias, Redundant skin, Prematurely aged ap... ORPHA:2658
Chromosome Xp11.3 Deletion Syndrome
Short stature, Progeroid facial appearance OMIM:300578
Xeroderma Pigmentosum, Complementation Group B
Hypogonadism, Cutaneous photosensitivity, Short stature, Progeroid facial appearance OMIM:610651
Classical Ehlers-Danlos Syndrome
Striae distensae, Prematurely aged appearance, Poor wound healing, Bladder diverticulum, Blepharo... ORPHA:287
Keppen-Lubinsky Syndrome
Lack of facial subcutaneous fat, Progeroid facial appearance, Decreased serum leptin, Polyhydramn... OMIM:614098
Kid Syndrome
Progeroid facial appearance, Postnatal growth retardation, Hypohidrosis, Scaling skin, Failure to... ORPHA:477
Arterial Tortuosity Syndrome
Telangiectasia of the skin, Prematurely aged appearance, Redundant skin ORPHA:3342
Vascular Ehlers-Danlos Syndrome
Hypospadias, Short stature, Redundant skin, Prematurely aged appearance, Telangiectasia of the sk... ORPHA:286
Arterial Tortuosity Syndrome
Progeroid facial appearance, Bruising susceptibility, Telangiectases of the cheeks, Cutis laxa OMIM:208050
Carney Complex
Euthyroid multinodular goiter, Dorsocervical fat pad, Follicular thyroid carcinoma, Elevated circ... ORPHA:1359
Cerebrotendinous Xanthomatosis
Hypothyroidism, Prematurely aged appearance, Prolonged neonatal jaundice ORPHA:909
Branchioskeletogenital Syndrome
Ureteral stenosis, Blepharochalasis, Periorbital wrinkles, Micropenis, Bladder exstrophy, Penoscr... ORPHA:1299
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Anhidrosis, Hypohidrosis, Hypohidrotic ectodermal dysplasia, Periorbital wrinkles, Dry skin OMIM:305100
Neuroendocrine Neoplasm Of Appendix
Primary hypercortisolism, Intestinal carcinoid, Increased serum serotonin, Adrenocorticotropic ho... ORPHA:100079

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 Cldn7

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 Cldn7.

No publications found that use IMPC mice or data for Cldn7.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Cldn7tm1e(KOMP)Mbp Targeted, non-conditional allele ES Cells
Cldn7tm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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