Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Ndfip2 MGI:1923523

Gene Summary

Name:

Nedd4 family interacting protein 2

Synonyms:

0710001O20Rik, 9130207N19Rik, N4wbp5a

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	Allele	Zyg	Life Stage	P Value
increased grip strength	Ndfip2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	4.16×10^-05
increased circulating sodium level	Ndfip2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	4.90×10^-05
decreased locomotor activity	Ndfip2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	2.26×10^-08
increased circulating calcium level	Ndfip2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.38×10^-06
abnormal lens morphology	Ndfip2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.52×10^-05
increased vertical activity	Ndfip2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.50×10^-06
increased circulating serum albumin level	Ndfip2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	3.83×10^-06
cataract	Ndfip2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	8.68×10^-06
abnormal kidney morphology	Ndfip2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

Viewing: all phenotypes

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.

Electrocardiogram (ECG)

Waveform Image

28 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images

Human diseases caused by Ndfip2 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.

Human diseases associated with Ndfip2 (0 diseases)
Human diseases predicted to be associated with Ndfip2 (513 diseases)

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

The table below shows human diseases predicted to be associated to Ndfip2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Iron Overload, Susceptibility To	Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat...	OMIM:620121
Hemochromatosis, Type 5	Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati...	OMIM:615517
Genetic Hyperferritinemia Without Iron Overload	Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe...	ORPHA:254704
Anemia, Hypochromic Microcytic, With Iron Overload 1	Increased serum iron, Elevated hepatic iron concentration	OMIM:206100
Gracile Syndrome	Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce...	ORPHA:53693
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Increased circulating ferritin concentration, Elevated transferrin saturation	OMIM:205950
Gracile Syndrome	Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron, Cho...	OMIM:603358
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Elevated transferrin saturation, Increased circulating ferritin conce...	OMIM:615234
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundic...	OMIM:616860
Hemochromatosis, Neonatal	Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis, Increased ser...	OMIM:231100
Idiopathic Copper-Associated Cirrhosis	Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre...	ORPHA:209919
Neonatal Hemochromatosis	Congenital hepatic fibrosis, Increased serum iron, Increased circulating ferritin concentration, ...	ORPHA:446
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra...	ORPHA:139507
Hjv Or Hamp-Related Hemochromatosis	Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated transferrin saturation, Incr...	ORPHA:79230
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Increased circulating ferritin concentration, Elevat...	OMIM:613313
X-Linked Sideroblastic Anemia	Elevated hepatic transaminase, Splenomegaly, Abnormality of iron homeostasis	ORPHA:75563
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ...	OMIM:616278
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Elevated hepatic transaminase, Increased circulating ferritin concentration, Hepatosplenomegaly, ...	ORPHA:300298
Hydrocephaly-Cerebellar Agenesis Syndrome	Cataract, Ataxia	ORPHA:1397
Blue Diaper Syndrome	Nephrocalcinosis, Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Mednik Syndrome	Intrahepatic cholestasis, Decreased circulating ceruloplasmin concentration, Decreased circulatin...	ORPHA:171851
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Hep...	ORPHA:101330
Spinocerebellar Ataxia, Autosomal Recessive 24	Cataract, Spastic gait, Limb ataxia, Gait ataxia	OMIM:617133
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Hemochromatosis, Type 3	Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin...	OMIM:604250
Hemochromatosis, Type 4	Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Cirr...	OMIM:606069
Zinc Deficiency, Transient Neonatal	Decreased serum zinc	OMIM:608118
Hemochromatosis, Type 2A	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Increased serum iron, C...	OMIM:602390
Hypercalcemia, Infantile, 2	Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate...	OMIM:616963
Aceruloplasminemia	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, De...	ORPHA:48818
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Splenomegaly, Elevated transferrin saturation, Increased circulating ferritin concentration, Incr...	ORPHA:766
Galactosemia Ii	Cataract, Hypergalactosemia, Galactosuria	OMIM:230200
Hypertrophic Neuropathy And Cataract	Cataract	OMIM:239900
Beta-Thalassemia Intermedia	Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, Hepatosplenomegaly, Abnormality o...	ORPHA:231222
Hypercalcemia, Infantile, 1	Hypercalcemia, Polyuria, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Lethargy, Medullary n...	OMIM:143880
Adamantinoma	Hypercalcemia	ORPHA:55881
Glucose-Galactose Malabsorption	Renal insufficiency, Hypercalcemia, Nephrolithiasis, Hematuria, Hypernatremia	ORPHA:35710
Galactosemia Iv	Cataract, Hypergalactosemia	OMIM:618881
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Elevated urinary 3-hydroxybutyric acid, Ketonuria, Abnormal urine sebacic acid concentration, Hyp...	OMIM:615751
Dysequilibrium Syndrome	Cataract, Ataxia, Gait disturbance	ORPHA:1766
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract	ORPHA:163
Cataract 29	Cataract	OMIM:115800
Cataract 35	Cataract	OMIM:609376
Cataract 36	Cataract	OMIM:613887
Combined Oxidative Phosphorylation Deficiency 14	Increased hepatic glycogen content, Copper accumulation in liver, Elevated hepatic iron concentra...	OMIM:614946
Cataract And Congenital Ichthyosis	Cataract	OMIM:212400
Aceruloplasminemia	Increased circulating ferritin concentration, Aceruloplasminemia, Decreased serum iron	OMIM:604290
Chronic Bilirubin Encephalopathy	Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Hypernatremia, Neonatal h...	ORPHA:529808
Acute Bilirubin Encephalopathy	Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Hypernatremia, Neonatal h...	ORPHA:529799
Granulomatous Slack Skin	Nephrocalcinosis, Acute kidney injury, Hypercalcemia	ORPHA:33111
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Polydipsia, Hypernatremia, Megacystis, Polyuria	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Polydipsia, Hypernatremia, Megacystis, Polyuria	OMIM:304800
Beta-Thalassemia	Hepatomegaly, Splenomegaly, Hepatitis, Abnormality of iron homeostasis, Cholelithiasis	ORPHA:848
Hypoparathyroidism, Familial Isolated, 1	Cataract, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Nephrogenic Diabetes Insipidus	Renal insufficiency, Hydroureter, Anorexia, Functional abnormality of the bladder, Enuresis noctu...	ORPHA:223
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Falls, Elevated circulating creatine kinase concentration	OMIM:615883
Hyperparathyroidism 4	Nephrolithiasis, Hypercalcemia	OMIM:617343
Immunodeficiency 103, Susceptibility To Fungal Infections	Decreased serum iron	OMIM:212050
Congenital Disorder Of Glycosylation, Type Iiq	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu...	OMIM:617395
Central Diabetes Insipidus	Hyponatremia, Anorexia, Lethargy, Polydipsia, Nocturia	ORPHA:178029
Irida Syndrome	Intrahepatic cholestasis, Decreased circulating copper concentration	ORPHA:209981
Spastic Paraparesis-Deafness Syndrome	Cataract, Ataxia, Gait disturbance	ORPHA:2815
Cog2-Cdg	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, De...	ORPHA:435934
Hyperzincemia With Functional Zinc Depletion	Hepatomegaly, Increased serum zinc	OMIM:601979
Spinocerebellar Ataxia, Autosomal Recessive 23	Hyponatremia, Ataxia	OMIM:616949
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Polyuria, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Hypermanganesemia With Dystonia 1	Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Increased total iron binding capa...	OMIM:613280
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Hypoalphalipoproteinemia, Primary, 2	Decreased HDL cholesterol concentration, Corneal arcus, Cataract	OMIM:618463
Nephrotic Syndrome, Type 2	Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ...	OMIM:600995
Nephrotic Syndrome, Type 15	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ...	OMIM:617609
Huppke-Brendel Syndrome	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration	OMIM:614482
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Ataxia, Anorexia, Recurrent hand f...	ORPHA:3008
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Nephrocalcinosis, Hypercalciuria, Hypercalcemia, Renal tubular acidosis	OMIM:239199
Nephrotic Syndrome, Type 9	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,...	OMIM:615573
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Neuroleptic Malignant Syndrome	Hyponatremia, Proteinuria, Elevated circulating creatine kinase concentration, Urinary incontinen...	ORPHA:94093
Small Cell Carcinoma Of The Bladder	Dysuria, Hematuria, Hypercalcemia	ORPHA:284400
Blue Diaper Syndrome	Nephrocalcinosis, Blue urine, Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Hyperchlorhidrosis, Isolated	Hyponatremia, Hyperkalemia	OMIM:143860
Oculoskeletodental Syndrome	Nephrocalcinosis, Hypercalcemia, Hypocalcemia, Developmental cataract	ORPHA:557003
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Renal insufficiency, Proteinuria, Hypercalcemia	ORPHA:2668
Focal Segmental Glomerulosclerosis 6	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr...	OMIM:614131
Aldh18A1-Related De Barsy Syndrome	Cataract	ORPHA:35664
Copper Deficiency, Familial Benign	Decreased circulating copper concentration	OMIM:121270
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Steppage gait, Hypoalbuminemia, Ataxia	ORPHA:94124
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Familial Isolated Hyperparathyroidism	Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophos...	ORPHA:99879
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Steppage gait, Hypoalbuminemia, Ataxia	OMIM:607250
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Hyponatremia	ORPHA:3225
Diffuse Neonatal Hemangiomatosis	Renal insufficiency, Hypercalcemia	ORPHA:2123
Triokinase And Fmn Cyclase Deficiency Syndrome	Broad-based gait, Cataract, Hypoalbuminemia	OMIM:618805
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Congenital Dyserythropoietic Anemia Type Iii	Elevated hepatic transaminase, Increased serum iron, Increased total iron binding capacity, Hyper...	ORPHA:98870
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypercalciuria, Micropenis, Hypospadias, Hypercalcemia	OMIM:614732
Nephrotic Syndrome, Type 7	Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic...	OMIM:615008
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract, Hyperbilirubinemia	OMIM:618660
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia	DECIPHER:16
Webb-Dattani Syndrome	Neurogenic bladder, Hyposthenuria, Vesicoureteral reflux, Hypernatremia, Hydronephrosis	OMIM:615926
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Increased circulating ferritin concentration, Spleno...	OMIM:235200
Primary Membranoproliferative Glomerulonephritis	Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot...	ORPHA:54370
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Hepatocellular carcinoma, Splenomegaly, In...	ORPHA:465508
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Cataract, Elevated circulating creatine kinase concentration	OMIM:609115
Familial Benign Copper Deficiency	Decreased circulating copper concentration	ORPHA:1551
Trichomegaly	Cataract	OMIM:190330
Phenylketonuria	Maternal hyperphenylalaninemia, Hyperactivity, Cataract, Elevated urinary phenylpyruvic acid leve...	OMIM:261600
Trichohepatoenteric Syndrome 2	Hepatomegaly, Cirrhosis, Decreased serum iron, Chronic hepatitis	OMIM:614602
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypernatremia, Hypoalbuminemia	OMIM:615508
Hyperparathyroidism 2 With Jaw Tumors	Nephrolithiasis, Hypercalcemia, Polycystic kidney dysplasia	OMIM:145001
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin...	OMIM:300539
Neutropenia, Severe Congenital, 9, Autosomal Dominant	3-Methylglutaconic aciduria, Cataract	OMIM:619813
Hypocalcemia, Autosomal Dominant 1	Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia, Increased circ...	OMIM:601198
Renal Hypoplasia, Bilateral	Hyponatremia, Proteinuria, Chronic kidney disease, Hyperkalemia, Renal hypoplasia, Renal cyst, Ol...	ORPHA:97362
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Cataract, Inability to walk, Renal hypoplasia, Nephrocalcinosis, Hypoka...	OMIM:617913
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Abnormal circulating creatine kinase concentration, Abnormal circulating copper concentration	ORPHA:521411
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Cataract, Gait disturbance, Elevated circulating creatine kinase concentration, Tip-toe gait	OMIM:617404
Nephrotic Syndrome, Type 6	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	OMIM:614196
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Hypercalcemia, Exercise-induced myoglobinuria, Chronic kidney disease, Elevated creatine kinase a...	ORPHA:284426
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Porphyria Due To Ala Dehydratase Deficiency	Hyponatremia, Restlessness, Abnormal circulating porphyrin concentration, Abnormal fear-induced b...	ORPHA:100924
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level, Renal salt wasting	OMIM:610600
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level, Renal salt wasting	OMIM:203400
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l...	OMIM:300971
Rhabdoid Tumor	Hematuria, Hypercalcemia	ORPHA:69077
Nephrotic Syndrome, Type 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru...	OMIM:610725
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta...	ORPHA:309854
Hypocalciuric Hypercalcemia, Familial, Type I	Hypercalcemia, Hypermagnesemia, Nephrolithiasis, Hypercalciuria, Hypocalciuria	OMIM:145980
Coenzyme Q10 Deficiency, Primary, 3	Nephrotic syndrome, Hypoalbuminemia, Proteinuria	OMIM:614652
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Cataract, Developmental cataract	OMIM:613076
Bardet-Biedl Syndrome 18	Renal insufficiency, Cataract, Stage 5 chronic kidney disease	OMIM:615995
Focal Segmental Glomerulosclerosis 1	Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ...	OMIM:603278
Oculoskeletodental Syndrome	Hypercalcemia, Hypercalciuria, Developmental cataract, Mucopolysacchariduria, Hypocalcemia	OMIM:618440
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620126
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Posttransplant Acute Limbic Encephalitis	Hyponatremia, Ataxia	ORPHA:163921
Familial Isolated Hypoparathyroidism	Nephropathy, Cataract, Hypocalcemia	ORPHA:2238
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Hypermagnes...	OMIM:145981
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620125
Hypophosphatasia, Infantile	Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalcemia, Anorexia, Hypercalciu...	OMIM:241500
Non-Functioning Paraganglioma	Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated u...	ORPHA:94080
Pheochromocytoma	Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Developmental cataract, Renal ...	OMIM:171300
Juvenile Nephropathic Cystinosis	Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem...	ORPHA:411634
Metaphyseal Chondrodysplasia, Jansen Type	Waddling gait, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophosphatemia	OMIM:156400
Autoimmune Hypoparathyroidism	Calcium nephrolithiasis, Cataract, Hyperphosphatemia, Conjunctivitis, Hypocalcemia, Hypocalcemic ...	ORPHA:36913
Renal Tubular Acidosis, Distal, 1	Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N...	OMIM:179800
Morm Syndrome	Hyperactivity, Cataract, Micropenis, Aggressive behavior	ORPHA:75858
Leukoencephalopathy With Vanishing White Matter 2	Unsteady gait, Cataract	OMIM:620312
Uremic Pruritus	Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k...	ORPHA:94059
Hyperkalemic Periodic Paralysis	Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hypokalemia, Gait...	ORPHA:682
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Ataxia, Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotei...	ORPHA:64753
Cholestasis, Progressive Familial Intrahepatic, 10	Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho...	OMIM:619868
Hypophosphatasia	Hypercalcemia	ORPHA:436
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Hypoalbuminemia, Hypermethioninemia	OMIM:613752
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Ataxia, Elevated circulating creatine kinase concentration, Limb ataxia, Gait ataxia, Hypoalbumin...	OMIM:208920
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab...	OMIM:600740
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures	ORPHA:2239
Fibronectin Glomerulopathy	Renal insufficiency, Proteinuria, Nephrotic syndrome, Hypoalbuminemia, Microscopic hematuria	ORPHA:84090
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Cataract, Hyperamylasemia, Band keratopathy, Impaired renal tubular reabsorption of bicarbonate, ...	OMIM:604278
Galloway-Mowat Syndrome 6	Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalbuminemia, Abnormal re...	OMIM:618347
Cataract 9, Multiple Types	Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma	OMIM:604219
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hyperphosphaturia, Hypercalcemia, Polyuria, Hypercalciuria, Aminoaciduria, Hypophosph...	OMIM:239200
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Hypercalcemia, Urinary incontinence, Aggressive behavior, Gait ataxia, Compulsive behaviors, Atte...	ORPHA:476126
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia	OMIM:615863
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion	Abnormal circulating calcium concentration	ORPHA:140286
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL...	OMIM:267700
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Increased blood urea nitrog...	ORPHA:251004
Galloway-Mowat Syndrome 8	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome...	OMIM:618349
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu...	OMIM:242150
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Erythroderma, Lethal Congenital	Hypoalbuminemia	OMIM:227090
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14	Inability to walk, Cataract, Ataxia, Elevated circulating creatine kinase concentration	OMIM:615350
Megalocornea	Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d...	OMIM:309300
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Renal sodium wasting, Hyperkalemia, Increased circulating renin level	ORPHA:556037
Diarrhea 13	Hypoalbuminemia	OMIM:620357
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia	OMIM:240200
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Hyperkalemia, Renal salt wasting	OMIM:264350
Intellectual Developmental Disorder, Autosomal Dominant 70	Hyponatremia, Cataract	OMIM:620157
Liver Disease, Severe Congenital	Biliary hyperplasia, Hypocalcemia, Elevated hepatic iron concentration, Pancreatic hypoplasia, He...	OMIM:619991
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia	ORPHA:88643
Pheochromocytoma--Islet Cell Tumor Syndrome	Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level	OMIM:171420
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1	Broad-based gait, Cataract, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Cerebella...	OMIM:224050
Analbuminemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat...	OMIM:616000
Hyperferritinemia With Or Without Cataract	Increased circulating ferritin concentration, Nuclear cataract, Pulverulent cataract	OMIM:600886
Cataract-Nephropathy-Encephalopathy Syndrome	Renal tubular dysfunction, Cataract	ORPHA:1380
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Decreased serum iron	ORPHA:391372
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Renal phosphate wasting, Hypercalcemia, Hypophosphatemia	OMIM:612089
Familial Hypoaldosteronism	Hyponatremia, Renal salt wasting, Decreased urinary potassium, Hyperkalemia, Proximal renal tubul...	ORPHA:427
Pellagra-Like Syndrome	Cataract, Ataxia	OMIM:260650
Alg8-Cdg	Hyponatremia, Cataract, Ataxia	ORPHA:79325
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Renal sodium wasting, Hyperkalemia, Increased circulating renin level	ORPHA:556030
Familial Dysautonomia	Hyponatremia, Renal insufficiency, Corneal opacity, Ataxia, Abnormal pupil morphology, Corneal er...	ORPHA:1764
2P21 Microdeletion Syndrome	Nephrolithiasis, Hypocalcemia, Cystinuria	ORPHA:163693
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hepatomegaly, Microvesicular hepatic steatosis, Cirrhosis, Elevated hepatic iron concentration	OMIM:300868
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:177735
Infant Botulism	Hyponatremia, Anorexia, Keratoconjunctivitis sicca, Dysphagia, Mydriasis	ORPHA:178478
Late-Onset Isolated Acth Deficiency	Hyponatremia, Hypercalcemia, Anorexia, Hyperkalemia, Hyperuricemia, Lethargy	ORPHA:199299
Chorea, Remitting, With Nystagmus And Cataract	Cataract	OMIM:601372
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbilirubinemia, Int...	OMIM:617093
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Chronic kidney disease, ...	OMIM:613845
Dominant Beta-Thalassemia	Hepatocellular carcinoma, Hypersplenism, Splenomegaly, Jaundice, Chronic hepatitis, Hepatosplenom...	ORPHA:231226
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administration	OMIM:603233
Cataract 11, Multiple Types	Cataract, Developmental cataract	OMIM:610623
Maternally-Inherited Diabetes And Deafness	Renal insufficiency, Cataract, Proteinuria, Ataxia, Abnormal circulating lipid concentration	ORPHA:225
Vitamin D-Dependent Rickets, Type 3	Hypocalcemia, Hypophosphatemia	OMIM:619073
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cataract, Anorexia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:175500
Pseudohypoparathyroidism Type 2	Calcinosis, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administratio...	ORPHA:94090
Trichohepatoenteric Syndrome 1	Hepatomegaly, Abnormality of the pancreas, Splenomegaly, Jaundice, Cholestasis, Increased serum i...	OMIM:222470
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperactivit...	ORPHA:247585
Hereditary Coproporphyria	Hyponatremia, Dark urine, Abnormal circulating porphyrin concentration, Porphyrinuria, Increased ...	ORPHA:79273
Alpha-Methylacyl-Coa Racemase Deficiency	Cataract, Ataxia, Elevated circulating phytanic acid concentration, Increased circulating very lo...	OMIM:614307
Familial Hypocalciuric Hypercalcemia	Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increased renal ...	ORPHA:405
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Ataxia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Acute Adrenal Insufficiency	Hyponatremia, Renal insufficiency, Salt craving, Hypercalcemia, Anorexia, Renal salt wasting, Dec...	ORPHA:95409
Genetic Recurrent Myoglobinuria	Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka...	ORPHA:99845
Dahlberg-Borer-Newcomer Syndrome	Nephropathy, Renal insufficiency, Cataract, Hypocalcemia	ORPHA:1563
Wolcott-Rallison Syndrome	Hyponatremia, Renal insufficiency, Chronic kidney disease, Hyperammonemia, Hypoalbuminemia, Diffi...	ORPHA:1667
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration	OMIM:619658
Pseudohypoparathyroidism, Type Ic	Cataract, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administration,...	OMIM:612462
Infantile Myofibromatosis	Hypercalcemia	ORPHA:2591
Snakebite Envenomation	Hyponatremia, Pseudobulbar paralysis, Acute kidney injury, Neuromuscular dysphagia	ORPHA:449285
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Hyperkalemia, Renal salt wasting	OMIM:614736
Senior-Loken Syndrome	Cataract, Ataxia, Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis	ORPHA:3156
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hyperphosphatemia, Hypercalcemia	OMIM:617994
Alg6-Cdg	Hypoalbuminemia, Decreased LDL cholesterol concentration, Ataxia	ORPHA:79320
Cholera	Hyponatremia, Abnormality of renal excretion, Abnormal blood ion concentration, Hypokalemia, Hypo...	ORPHA:173
Beta-Thalassemia Major	Hepatomegaly, Hepatocellular carcinoma, Hypersplenism, Splenomegaly, Jaundice, Hepatosplenomegaly...	ORPHA:231214
Cochleosaccular Degeneration-Cataract Syndrome	Cataract, Ataxia	ORPHA:3233
Reni Syndrome	Diffuse mesangial sclerosis, Hypertriglyceridemia, Ataxia, Proteinuria, Stage 5 chronic kidney di...	OMIM:617575
Microphthalmia, Isolated, With Coloboma 3	Cataract, Iris coloboma	OMIM:610092
Sporadic Pheochromocytoma/Secreting Paraganglioma	Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve...	ORPHA:276621
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract	OMIM:254000
Leber Congenital Amaurosis 1	Keratoconus, Cataract, Hyperthreoninuria, Eye poking, Hyperthreoninemia	OMIM:204000
Generalized Pustular Psoriasis	Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Hypoalb...	ORPHA:247353
Hereditary Pheochromocytoma-Paraganglioma	Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve...	ORPHA:29072
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Hypercalcemia	ORPHA:97289
Nephrotic Syndrome, Type 1	Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Hyp...	OMIM:256300
Progressive Familial Intrahepatic Cholestasis	Hypocalcemia	ORPHA:172
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi...	OMIM:617319
Cardiomyopathy, Dilated, 1Ii	Cataract, Elevated circulating creatine kinase concentration	OMIM:615184
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14	Cataract, Elevated circulating creatine kinase concentration	OMIM:615352
Herpes Simplex Virus Encephalitis	Hyponatremia, Addictive alcohol use, Elevated circulating C-reactive protein concentration	ORPHA:1930
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentration, Hypoalb...	OMIM:603553
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Minimal change glome...	ORPHA:567548
Chylomicron Retention Disease	Hypotriglyceridemia, Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia	OMIM:246700
Cataract 47	Microcornea, Cataract, Glycosuria	OMIM:612018
Retinitis Pigmentosa And Erythrocytic Microcytosis	Decreased serum iron	OMIM:616959
Usher Syndrome Type 3	Cataract, Ataxia, Astigmatism, Iris hypopigmentation	ORPHA:231183
Nephrotic Syndrome, Type 8	Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,...	OMIM:615244
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Ketonuria, Increased...	ORPHA:247598
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Hyponatremia	ORPHA:91354
Paget Disease Of Bone 2, Early-Onset	Hydroxyprolinuria, Hypercalcemia	OMIM:602080
Iris Pigment Layer, Cleavage Of	Cataract	OMIM:147610
Colchicine Poisoning	Hyponatremia, Renal insufficiency, Abnormal blood ion concentration, Oliguria, Hypophosphatemia, ...	ORPHA:31824
Alpha-Heavy Chain Disease	Hypocalcemia	ORPHA:100025
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy...	ORPHA:103910
Lipodystrophy, Congenital Generalized, Type 3	Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia	OMIM:612526
Congenital Isolated Acth Deficiency	Hyponatremia, Hyperkalemia	ORPHA:199296
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Renal salt wasting, Increased urin...	OMIM:613090
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Polyuria, Renal salt wasting, ...	OMIM:601678
Genetic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Chronic...	ORPHA:656
Galactose Mutarotase Deficiency	Cataract, Hypergalactosemia	ORPHA:570422
Hypotonia-Cystinuria Syndrome	Polyphagia, Nephrolithiasis, Cystinuria, Hypocalcemia, Cystine crystalluria	OMIM:606407
Congenital Lethal Erythroderma	Hypoalbuminemia	ORPHA:1954
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn...	OMIM:616730
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Hyperkalemia, Increased circulating renin level	ORPHA:171876
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane	OMIM:620253
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s...	OMIM:602522
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin	OMIM:618528
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Polyuria, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	OMIM:618183
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Hypercalcemia, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypophosphatemi...	ORPHA:99880
Hartsfield Syndrome	Micropenis, Hypernatremia, Hypospadias	OMIM:615465
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Hypercalcemia, Hypercalciuria, Renal cyst, Nephrocalcinosis, Astigmatism, C...	ORPHA:369837
Legionnaires Disease	Hyponatremia, Renal insufficiency, Ataxia, Proteinuria, Anorexia, Hematuria	ORPHA:549
Immunodeficiency 82 With Systemic Inflammation	Hypernatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Anorexia	OMIM:619381
Parathyroid Carcinoma	Renal insufficiency, Hypercalcemia, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypophosphatemi...	ORPHA:143
Aica-Ribosuria Due To Atic Deficiency	Hyponatremia, Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level	OMIM:608688
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Decreased serum zinc, Hepatic fib...	ORPHA:541423
Addison Disease	Hyponatremia, Salt craving, Hypercalcemia, Anorexia, Renal salt wasting, Decreased urinary potass...	ORPHA:85138
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia	OMIM:214700
Cystinosis, Nephropathic	Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri...	OMIM:219800
Alg1-Cdg	Nephrotic syndrome, Renal insufficiency, Hypoalbuminemia	ORPHA:79327
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Hematuria, Cataract, Iris coloboma	OMIM:120433
Pseudohypoparathyroidism Type 1B	Calcinosis, Cataract, Hyperphosphatemia, Conjunctivitis, Hypocalcemia, Low urinary cyclic AMP res...	ORPHA:94089
Multiple Myeloma	Hypercalcemia, Elevated circulating creatinine concentration, Nephrotic syndrome, Hyperproteinemi...	ORPHA:29073
Refractory Celiac Disease	Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia	ORPHA:398063
Syndromic Diarrhea	Hepatomegaly, Splenomegaly, Abnormality of the liver, Hepatic fibrosis, Abnormality of iron homeo...	ORPHA:84064
Rabin-Pappas Syndrome	Hyponatremia, Cataract	OMIM:620155
Neurodegeneration And Seizures Due To Copper Transport Defect	Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper concentration	OMIM:620306
Autoinflammation With Infantile Enterocolitis	Increased circulating ferritin concentration, Hypoalbuminemia, Elevated circulating C-reactive pr...	OMIM:616050
Coats Disease	Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology	ORPHA:190
Autosomal Recessive Kenny-Caffey Syndrome	Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures	ORPHA:93324
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Fibrous Dysplasia Of Bone	Antalgic gait, Hypercalcemia, Difficulty walking, Hypophosphatemia	ORPHA:249
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Decreased serum iron, Decreased serum zinc, Hypoalbuminemia, Decreased circulating carnitine conc...	ORPHA:89842
Shigellosis	Hyponatremia, Anorexia, Hemolytic-uremic syndrome, Urethritis, Abnormal blood ion concentration, ...	ORPHA:810
Immunodeficiency 27A	Hypoalbuminemia, Anorexia	OMIM:209950
Monosomy 13Q34	Hypercalcemia	ORPHA:96168
Hypocalcemic Vitamin D-Resistant Rickets	Nephrolithiasis, Gait disturbance, Hypocalcemia, Hypophosphatemia	ORPHA:93160
Porphyria Variegata	Hyponatremia, Neurogenic bladder, Abnormal circulating porphyrin concentration, Chronic kidney di...	ORPHA:79473
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Renal insufficiency, Proteinuria, Unsteady gait, Gait ataxia, Nephrotic syndrome, Focal segmental...	OMIM:254900
Whipple Disease	Hyponatremia, Polydipsia, Ataxia, Anorexia	ORPHA:3452
Necrotizing Enterocolitis	Hyponatremia, Lethargy	ORPHA:391673
Immunodeficiency 47	Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Decreased circulating copper conce...	OMIM:300972
Adrenal Hypoplasia, Congenital	Hyponatremia, Renal salt wasting	OMIM:300200
Autosomal Dominant Hypophosphatemic Rickets	Hyperphosphaturia, Hypocalcemia, Hypophosphatemia	ORPHA:89937
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Microcornea, Cataract, Aniridia	OMIM:106230
Peroxisome Biogenesis Disorder 9B	Cataract, Elevated circulating phytanic acid concentration, Ataxia	OMIM:614879
Immunodeficiency 43	Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia	OMIM:241600
Acute Intermittent Porphyria	Hyponatremia, Restlessness, Renal insufficiency, Dark urine, Urinary incontinence, Dysuria, Porph...	ORPHA:79276
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Aplasia/Hypoplasia of the lens, Hypoplasia of penis, Cataract, Hypospadias	ORPHA:1381
Muscle-Eye-Brain Disease	Cataract, Gait disturbance, Elevated circulating creatine kinase concentration	ORPHA:588
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypocalcemia, Difficulty walking, Hypophosphatemia	OMIM:600081
Familial Glucocorticoid Deficiency	Hyponatremia, Anorexia, Renal salt wasting, Hyperkalemia, Hypernatriuria	ORPHA:361
Sanjad-Sakati Syndrome	Hypoplasia of penis, Corneal opacity, Hyperphosphatemia, Astigmatism, Hypocalcemia	ORPHA:2323
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Splenomegaly, Hepatomegaly, Decreased serum zinc	OMIM:201100
Bartter Syndrome Type 4	Hyponatremia, Renal salt wasting, Increased urinary potassium, Impaired renal concentrating abili...	ORPHA:89938
Pseudopseudohypoparathyroidism	Hyperphosphatemia, Hypocalcemia	ORPHA:79445
Oncogenic Osteomalacia	Hyperphosphaturia, Renal phosphate wasting, Gait disturbance, Hypocalcemia, Hypophosphatemia	ORPHA:352540
Oculocerebrorenal Syndrome Of Lowe	Hypoammonemia, Abnormal pupil morphology, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Le...	ORPHA:534
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Generalized aminoaciduria, Hypocalcemia, Difficulty walking, Hypophosphatemia, Hypocalcemic seizures	OMIM:264700
Galactosemia I	Cataract, Increased level of galactitol in plasma, Aminoaciduria, Albuminuria, Galactosuria, Hype...	OMIM:230400
Gracile Bone Dysplasia	Aniridia, Micropenis, Hypocalcemia	OMIM:602361
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Hypospadias, Renal salt wasting, Hyperkalemia, Increased circulating renin level, P...	ORPHA:90791
Aniridia 2	Aniridia, Iris coloboma, Cataract, Lens subluxation	OMIM:617141
Multiple Endocrine Neoplasia Type 2	Elevated urinary catecholamine level, Hypercalcemia, Prominent corneal nerve fibers, Elevated uri...	ORPHA:653
Leishmaniasis	Hypoalbuminemia, Anorexia	ORPHA:507
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Hypoalbuminemia	OMIM:619013
Autosomal Dominant Keratitis	Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op...	ORPHA:2334
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Waddling gait, Cataract, Abnormal circulating creatine kinase concentration, Difficulty walking, ...	ORPHA:369840
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Renal insufficiency, Cataract, Ataxia, Proteinuria, Hypoplasia of th...	OMIM:251300
Eosinophilic Gastroenteritis	Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Dysphagia	ORPHA:2070
Williams Syndrome	Hypoplasia of penis, Elevated circulating creatine kinase concentration, Dysmetria, Nephrocalcino...	ORPHA:904
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia	ORPHA:83601
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Microcornea, Cataract	OMIM:619082
Ménétrier Disease	Hypoproteinemia, Hypoalbuminemia, Anorexia	ORPHA:2494
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyponatremia, Hypospadias, Scrotal hypospadias, Hyperkalemia, Perineal hypospadias, Microphallus,...	OMIM:201810
Mirage Syndrome	Hyponatremia, Hyperkalemia, Microphallus, Hypospadias	OMIM:617053
Transketolase Deficiency	Increased level of ribose in urine, Cataract, Renal cyst, Self-injurious behavior, Conjunctivitis...	ORPHA:488618
Chédiak-Higashi Syndrome	Hyponatremia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentration, Inabili...	ORPHA:167
Ring Chromosome 10 Syndrome	Hypocalcemia	ORPHA:1438
Pseudohypoparathyroidism Type 1C	Calcinosis, Cataract, Hyperphosphatemia, Conjunctivitis, Hypocalcemia, Low urinary cyclic AMP res...	ORPHA:79444
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m...	OMIM:225200
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Ectopia lentis	ORPHA:1068
Gyrate Atrophy Of Choroid And Retina	Hyperornithinemia, Aminoaciduria, Cataract, Subcapsular cataract	ORPHA:414
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Broad-based gait, Ataxia, Decreased LDL cholesterol conc...	ORPHA:14
Cataract 10, Multiple Types	Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract	OMIM:600881
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Wilson Disease	Acute hepatic failure, Hepatomegaly, Decreased circulating ceruloplasmin concentration, Hypourice...	OMIM:277900
Liver Failure, Infantile, Transient	3-hydroxydicarboxylic aciduria, Dicarboxylic aciduria, Lacticaciduria, Hypoalbuminemia, Hyperbili...	OMIM:613070
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	ORPHA:90362
Lymphoproliferative Syndrome, X-Linked, 1	Hypoalbuminemia, Elevated circulating C-reactive protein concentration	OMIM:308240
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia, Developmental cataract	OMIM:127000
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Abnormal circulating albumin concentration	ORPHA:86839
Combined Oxidative Phosphorylation Deficiency 3	Hyponatremia, Ataxia, Elevated circulating creatine kinase concentration, Hyperammonemia	OMIM:610505
Congenital Disorder Of Glycosylation, Type Ib	Proximal tubulopathy, Hypoalbuminemia, Renal cyst	OMIM:602579
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol...	ORPHA:67043
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ...	ORPHA:26793
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Micropenis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:241410
Intermediate Osteopetrosis	Hypocalcemia	ORPHA:210110
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Inappropriate laughter, Ataxia, Hypocalcemia, Difficulty walking	OMIM:618476
Pseudohypoparathyroidism Type 1A	Calcinosis, Cataract, Band keratopathy, Choreoathetosis, Hyperphosphatemia, Conjunctivitis, Hypoc...	ORPHA:79443
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati...	ORPHA:88618
Avian Influenza	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:454836
Panhypophysitis	Hyponatremia, Polydipsia, Hyposthenuria	ORPHA:95513
Alg12-Cdg	Hyponatremia, Hypospadias, Hypoalbuminemia, Hypocholesterolemia, Micropenis	ORPHA:79324
Congenital Disorder Of Glycosylation, Type Ih	Elevated circulating creatinine concentration, Hypoalbuminemia	OMIM:608104
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Hypocalcemic Vitamin D-Dependent Rickets	Generalized aminoaciduria, Hypocalcemia, Difficulty walking, Hypophosphatemia, Hypocalcemic seizures	ORPHA:289157
Myopia 28, Autosomal Recessive	Cataract	OMIM:619781
Pseudohypoparathyroidism, Type Ia	Hypocalcemic tetany, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Ca...	OMIM:103580
Mucopolysaccharidosis-Plus Syndrome	Proteinuria, Inability to walk, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalbum...	OMIM:617303
X-Linked Agammaglobulinemia	Conjunctivitis, Hypocalcemia	ORPHA:47
Pituitary Apoplexy	Hyponatremia, Mydriasis	ORPHA:95613
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Neurogenic bladder, Cataract, Dysmetria, Dysphagia	OMIM:619780
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia	ORPHA:86816
Mpi-Cdg	Hypoalbuminemia	ORPHA:79319
Vipoma	Hypokalemia, Hypercalcemia, Anorexia	ORPHA:97282
Kenny-Caffey Syndrome, Type 1	Hypocalcemia, Hypomagnesemia	OMIM:244460
Albers-Schönberg Osteopetrosis	Hypocalcemia	ORPHA:53
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Cataract, Ataxia, Conjugated hyperbilirubinemia, Inability to walk, Hyperkalemia, Nuclear cataract	OMIM:608885
Slc39A8-Cdg	Hypomanganesemia, Abnormality of the liver, Abnormal blood zinc concentration	ORPHA:468699
Multiple Endocrine Neoplasia, Type I	Hypercalcemia	OMIM:131100
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, Conjugated hyperbilirubinemia, 4-Hydroxyphenylp...	OMIM:617156
Congenital Disorder Of Glycosylation, Type Ig	Lethargy, Micropenis, Hypospadias, Hypocalcemia	OMIM:607143
Macrophage Activation Syndrome	Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Elevated cir...	ORPHA:158061
Ppoma	Hypercalcemia, Anorexia	ORPHA:97278
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Anuria, Elevated circulating creatinine concentration, Hemoglobinuria, Hypokalemia,...	ORPHA:90038
Isolated Aniridia	Aniridia, Cataract, Peters anomaly	ORPHA:250923
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hematuria, Hypoalbuminemia	OMIM:617021
Mitochondrial Trifunctional Protein Deficiency	Lethargy, Tip-toe gait, Hypocalcemia	ORPHA:746
Williams-Beuren Syndrome	Renal insufficiency, Hypercalcemia, Urethral stenosis, Blue irides, Renal hypoplasia, Hypercalciu...	OMIM:194050
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyponatremia, Renal salt wasting, Hyperkalemia, Abnormal urine potassium concentration, Hypernatr...	ORPHA:168558
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Hepatomegaly, Abnormal circulating serine concentration,...	ORPHA:470
Immunodeficiency 32B	Hypoalbuminemia	OMIM:226990
Adenohypophysitis	Hyponatremia, Hyposthenuria	ORPHA:95512
Japanese Encephalitis	Hyponatremia, Choreoathetosis, Anorexia	ORPHA:79139
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyponatremia, Renal salt wasting, Hyperkalemia, Abnormal urine potassium concentration, Hypernatr...	ORPHA:289548
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hyponatremia, Hypokalemia, Ataxia	OMIM:618426
Ethylene Glycol Poisoning	Renal insufficiency, Ataxia, Hyperkalemia, Renal tubular epithelial necrosis, Renal tubular dysfu...	ORPHA:31826
Somatostatinoma	Hypercalcemia, Anorexia	ORPHA:97283
Timothy Syndrome	Hypocalcemia	OMIM:601005
Congenital Disorder Of Glycosylation, Type Ia	Ataxia, Proteinuria, Renal cyst, Dysmetria, Nephrotic syndrome, Proximal tubulopathy, Hypoalbumin...	OMIM:212065
Pearson Syndrome	Renal insufficiency, Cataract, Ataxia, Proteinuria, Hypomagnesemia, Lacticaciduria, Dysphagia, Re...	ORPHA:699
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Cataract, Proteinuria, Corneal erosion, Stage 5 chronic kidney disease, Hema...	OMIM:203780
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Hypoalbuminemia	OMIM:614441
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Abnormal renal tubular resorption, Hypercalciuria, Hyperprostaglandinuria, Nephrocalcinosis, Hypo...	ORPHA:73224
Xfe Progeroid Syndrome	Renal insufficiency, Hypoalbuminemia, Corneal scarring, Proteinuria	OMIM:610965
Hereditary Fructose Intolerance	Renal insufficiency, Cataract, Chronic kidney disease, Hypermagnesemia, Hyperuricemia, Hypophosph...	ORPHA:469
Grfoma	Hypercalcemia, Anorexia	ORPHA:97261
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Abnormal ren...	ORPHA:540
Autosomal Dominant Hypocalcemia	Hypercalciuria, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypermagnesiuria	ORPHA:428
Aicardi-Goutieres Syndrome 9	Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hypoalbuminemia, Glomerular scl...	OMIM:619487
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Hyperkalemia	ORPHA:90790
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hydronephrosis, Micropenis, Hypoproteinemia, Hypocalcemia	OMIM:235255
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Hyperactivity, Ectopic kidney, Horseshoe kidney, Hypoalbuminemia, Vesicoureteral reflux, Hydronep...	OMIM:235510
Multiple Endocrine Neoplasia Type 1	Hypercalcemia, Anorexia, Nephrolithiasis, Hypercalciuria, Lethargy	ORPHA:652
Glucagonoma	Hypercalcemia, Anorexia	ORPHA:97280
Bacterial Toxic-Shock Syndrome	Renal insufficiency, Elevated circulating creatine kinase concentration, Glomerulonephritis, Elev...	ORPHA:36234
Sarcoidosis	Renal insufficiency, Cataract, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, ...	ORPHA:797
Aniridia 3	Aniridia, Cataract	OMIM:617142
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	High nonceruloplasmin-bound serum copper	ORPHA:457351
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Minimal change glomerulonephritis, Hyperlipidemia, Chronic kidney disease, Stage 5 chronic kidney...	ORPHA:567546
Zollinger-Ellison Syndrome	Increased urinary cortisol level, Hypercalcemia	ORPHA:913
Multiple Endocrine Neoplasia Type 4	Increased urinary cortisol level, Renal angiomyolipoma, Hypercalcemia	ORPHA:276152
Norrie Disease	Cataract, Corneal opacity, Aggressive behavior, Leukocoria, Hypoplasia of the iris, Buphthalmos, ...	OMIM:310600
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Abnormal blood ion concentration, Tubulointerstitial nephritis, Nephrotic syndrome, Membranous ne...	ORPHA:37042
Mitochondrial Complex I Deficiency, Nuclear Type 32	Hyponatremia, Patent urachus	OMIM:618252
Al Amyloidosis	Renal insufficiency, Increased circulating NT-proBNP concentration, Proteinuria, Nephrotic syndro...	ORPHA:85443
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Anuria, Hyperkalemia, Oliguria, Hypocalcemia, Acute kidney injury, Nephrotic range ...	ORPHA:544482
Sotos Syndrome	Ureteral duplication, Renal insufficiency, Cataract, Hypospadias, Hypercalcemia, Aggressive behav...	ORPHA:821
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoproteinemia, Hypoalbuminemia	OMIM:226300
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Renal salt wasting, Hyperkalemia, Abnormal urine potassium co...	ORPHA:275761
Hepatoportal Sclerosis	Hypoalbuminemia, Hyperbilirubinemia	ORPHA:64743
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Proteinuria, Heparan sulfate excretion in urine, Inability to walk, Nephrotic syndrome, Heavy pro...	ORPHA:505248
Aniridia And Absent Patella	Aniridia, Cataract	OMIM:106220
Dent Disease	Renal insufficiency, Cataract, Renal hypophosphatemia, Elevated circulating creatine kinase conce...	ORPHA:1652
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Aggressive behavior, Hyperlipidemia, Hyperkalemia, Self-injurious behavior, Enuresi...	ORPHA:293987
Holoprosencephaly	Hyponatremia, Hypoplasia of penis, Proteinuria, Iris coloboma	ORPHA:2162
Velocardiofacial Syndrome	Posterior embryotoxon, Hypocalcemia, Aggressive behavior	OMIM:192430
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Generalized aminoaciduria,...	OMIM:251880
Cataract 5, Multiple Types	Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Juvenile Polyposis Syndrome	Hypokalemia, Hypoalbuminemia	OMIM:174900
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hydronephrosis, Micropenis, Hypoproteinemia, Hypocalcemia	ORPHA:1655
Sheehan Syndrome	Hyponatremia, Hyposthenuria	ORPHA:91355
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hypoalbuminemia	ORPHA:367
Vitreoretinal Degeneration, Snowflake Type	Cataract, Corneal guttata	OMIM:193230
Celiac Disease, Susceptibility To, 1	Ataxia, Hypocalcemia	OMIM:212750
Exercise-Induced Malignant Hyperthermia	Ataxia, Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Hyperphosphat...	ORPHA:466650
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal insufficiency, Unilateral renal agenesis, Hypocalcemia, Polycystic kidney dysplasia, Vesico...	ORPHA:2237
Autosomal Recessive Polycystic Kidney Disease	Hyponatremia, Renal insufficiency, Oliguria, Stage 5 chronic kidney disease, Increased serum bile...	ORPHA:731
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp...	OMIM:617729
Congenital Enterovirus Infection	Hypoalbuminemia, Hyperammonemia	ORPHA:292
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Hyperkalemia	ORPHA:293978
Osteopetrosis, Autosomal Recessive 1	Hypocalcemia	OMIM:259700
Combined Oxidative Phosphorylation Deficiency 37	Hyperalaninemia, 3-Methylglutaconic aciduria, Hypoalbuminemia	OMIM:618329
Paroxysmal Nocturnal Hemoglobinuria	Decreased serum iron, Jaundice, Unconjugated hyperbilirubinemia, Increased blood urea nitrogen, R...	ORPHA:447
Leiomyomatosis, Diffuse, With Alport Syndrome	Renal insufficiency, Cataract, Proteinuria, Microscopic hematuria, Stage 5 chronic kidney disease...	OMIM:308940
Marburg Hemorrhagic Fever	Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Anorexi...	ORPHA:99826
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Aminoaciduria, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:619055
Cataract 20, Multiple Types	Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract	OMIM:116100
Osteopetrosis, Autosomal Recessive 5	Hypocalcemia, Hyperbilirubinemia, Mydriasis	OMIM:259720
Gitelman Syndrome	Salt craving, Proteinuria, Urinary incontinence, Decreased urinary potassium, Hypermagnesemia, Tu...	ORPHA:358
Xeroderma Pigmentosum, Complementation Group D	Cataract, Ataxia, Keratitis, Choreoathetosis, Keratoconjunctivitis sicca, Conjunctivitis, Corneal...	OMIM:278730
Double Outlet Right Ventricle	Hypocalcemia	ORPHA:3426
Smith-Lemli-Opitz Syndrome	Ureteropelvic junction obstruction, Hyperactivity, Cataract, Hypospadias, Unilateral renal agenes...	OMIM:270400
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Cataract, Band keratopathy, Bicarbonaturia, Bicarbonate-wasting renal tubular ...	ORPHA:47159
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Hypoalbuminemia, Corneal opacity	ORPHA:79396
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Nail-biting, Broad-based gait, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious beha...	OMIM:620330
Igg4-Related Thyroid Disease	Hypocalcemia, Dysphagia	ORPHA:64744
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Renal salt wasting, Long penis, Hyperkalemia, Elevated urinary epinephrine level, H...	ORPHA:90794
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster...	OMIM:221900
Insulin-Resistance Syndrome Type B	Proteinuria, Abnormal circulating fatty-acid concentration, Hypotriglyceridemia, Hypoalbuminemia,...	ORPHA:2298
Amoebiasis Due To Entamoeba Histolytica	Hypoalbuminemia	ORPHA:67
22Q11.2 Deletion Syndrome	Cataract, Hypospadias, Renal hypoplasia, Multiple renal cysts, Hypocalcemia, Attention deficit hy...	ORPHA:567
Primary Biliary Cholangitis	Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia	ORPHA:186
Pierson Syndrome	Diffuse mesangial sclerosis, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Proteinuri...	OMIM:609049
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hypospadias, Hypocalcemia, Hyperbilirubinemia, Micropenis, Hydronephrosis	ORPHA:163979
Aniridia 1	Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,...	OMIM:106210
Autosomal Dominant Kenny-Caffey Syndrome	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Developmental cataract	ORPHA:93325
Craniofacioskeletal Syndrome	Hydronephrosis, Hypospadias, Hypocalcemia	OMIM:300712
Occipital Horn Syndrome	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration	OMIM:304150
Secondary Intestinal Lymphangiectasia	Reduced circulating transferrin concentration, Decreased prealbumin level, Hypoalbuminemia, Hypoc...	ORPHA:90363
Osteopetrosis With Renal Tubular Acidosis	Elevated circulating creatine kinase concentration, Proximal renal tubular acidosis, Nephrolithia...	ORPHA:2785
Autosomal Dominant Optic Atrophy And Cataract	Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Ataxia, Cerulean cataract, ...	ORPHA:67036
Isotretinoin-Like Syndrome	Hypocalcemia	ORPHA:2306
Cartilage-Hair Hypoplasia	Mucopolysacchariduria, Hypocalcemia	ORPHA:175
Hennekam Syndrome	Hypocalcemia, Horseshoe kidney, Ectopic kidney	ORPHA:2136
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyponatremia, Hypospadias, Vesicovaginal fistula, Hyperkalemia, Horseshoe kidney, Chordee, Microp...	OMIM:201750
Persistent Hyperplastic Primary Vitreous	Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ...	ORPHA:91495
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia	OMIM:613658
Cranioectodermal Dysplasia 1	Renal magnesium wasting, Chronic kidney disease, Stage 5 chronic kidney disease, Tubulointerstiti...	OMIM:218330
Acute Transverse Myelitis	Decreased circulating copper concentration	ORPHA:139417
Digeorge Syndrome	Renal insufficiency, Sclerocornea, Unilateral renal agenesis, Hypocalcemia, Attention deficit hyp...	OMIM:188400
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Broad-based gait, Impulsivity, Unilateral renal agenesis, Bruxism, Dysphagia, Urinary urgency, Ti...	OMIM:619503
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Decreased serum iron	ORPHA:438213
Primary Sclerosing Cholangitis	Renal insufficiency, Hypoalbuminemia	ORPHA:171
Juvenile Polyposis Of Infancy	Hypoalbuminemia	ORPHA:79076
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalb...	OMIM:614748
Charge Syndrome	Cataract, Self-mutilation, Renal hypoplasia, Horseshoe kidney, Hydronephrosis, Hypocalcemia, Dysp...	OMIM:214800
Autosomal Recessive Malignant Osteopetrosis	Hypocalcemia, Hypophosphatemia	ORPHA:667
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Decreased plasma total carnitine, Decreased serum zinc, Abnormal circulating selenium concentration	ORPHA:79408
Autosomal Recessive Hypophosphatemic Rickets	Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphatemia, Renal phosphate wastin...	ORPHA:289176
Biliary, Renal, Neurologic, And Skeletal Syndrome	Dark urine, Renal insufficiency, Conjugated hyperbilirubinemia, Increased circulating ferritin co...	OMIM:619534
Wrinkly Skin Syndrome	High nonceruloplasmin-bound serum copper	ORPHA:2834
T-Cell Immunodeficiency With Thymic Aplasia	Hypocalcemic tetany	ORPHA:83471
Johanson-Blizzard Syndrome	Hypospadias, Increased VLDL cholesterol concentration, Urethrovaginal fistula, Conjugated hyperbi...	OMIM:243800
Pmm2-Cdg	Cataract, Ataxia, Proteinuria, Reduced thyroxin-binding globulin, Nephrotic syndrome, Hypoalbumin...	ORPHA:79318
Tropical Endomyocardial Fibrosis	Hypoalbuminemia	ORPHA:75565

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 Ndfip2

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 Ndfip2.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Ndfip2 is a potential regulator of the iron transporter DMT1 in the liver.	Scientific reports (April 2016)	Ndfip2^{tm1a(EUCOMM)Hmgu}	PMC4822147

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
Ndfip2^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Ndfip2^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice
Ndfip2^{tm2a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Ndfip2 MGI:1923523

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Electrocardiogram (ECG)

X-ray

X-ray

Human diseases caused by Ndfip2 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 20.1 Data