Gene Summary

Name:
leucine rich repeat containing 8 family, member C
Synonyms:
E430036I04Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal testis morphology Lrrc8cem1(IMPC)Mbp HOM Early adult 0.00
preweaning lethality, incomplete penetrance Lrrc8cem1(IMPC)Mbp HOM Early adult 0.00
decreased circulating calcium level Lrrc8cem1(IMPC)Mbp HOM Early adult 6.36×10-06
abnormal spleen morphology Lrrc8cem1(IMPC)Mbp HOM Early adult 0.00
abnormal eye morphology Lrrc8cem1(IMPC)Mbp HOM Early adult 0.00
small testis Lrrc8cem1(IMPC)Mbp HOM Early adult 0.00
decreased circulating serum albumin level Lrrc8cem1(IMPC)Mbp HOM Early adult 9.78×10-05

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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.

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

X-ray

XRay Images Whole Body Dorso Ventral

21 Images

Histopathology

Images

3 Images

Human diseases caused by Lrrc8c 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 Lrrc8c by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Decreased circulating parathyroid hormone... OMIM:618883
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stools, Portal fibro... OMIM:619868
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hypocalcemia, Hepatic bridging fibrosis, E... OMIM:619658
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Splenomegaly, Primary amenorrhea, Hepatosp... OMIM:612526
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hyperphos... OMIM:203330
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Parathyroid agenesis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenit... ORPHA:2239
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcemia, Anemia ORPHA:100025
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia ORPHA:172
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Decreased hepatic echogenicity, Hypoalbuminemia... OMIM:613752
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Diarrhea 13
Hepatic steatosis, Hypoalbuminemia OMIM:620357
Hypoparathyroidism, Familial Isolated, 1
Hypoparathyroidism, Decreased circulating parathyroid hormone level, Hyperphosphatemia, Hypocalce... OMIM:146200
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Congenital hypothyroidism ORPHA:88643
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ... OMIM:209950
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hyperphos... OMIM:603233
Pseudohypoparathyroidism Type 2
Calcinosis, Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, Hyperphosph... ORPHA:94090
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ... ORPHA:398063
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Vitamin D-Dependent Rickets, Type 3
Elevated circulating parathyroid hormone level, Hypocalcemia, Hypophosphatemia OMIM:619073
Nephrotic Syndrome, Type 7
Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia OMIM:615008
2P21 Microdeletion Syndrome
Hypogonadism, Hypocalcemia ORPHA:163693
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Elevated circulating C-reactive protein concentration, Increased circulating ferrit... OMIM:616050
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio... OMIM:308240
Analbuminemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... OMIM:616000
Hepatoportal Sclerosis
Portal hypertension, Nodular regenerative hyperplasia of liver, Portal vein thrombosis, Hypersple... ORPHA:64743
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Cryptorchidism, Thrombocytopenia, Elevated circulating creatinine concentration, Ch... OMIM:608104
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Conjugated hyperbilirubinemia, Microvesicular hepatic steatosis, Jaundice, Depletio... OMIM:618528
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Hypocalcemia, Autosomal Dominant 1
Decreased circulating parathyroid hormone level, Hypokalemia, Hyperphosphatemia, Increased circul... OMIM:601198
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... OMIM:267700
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Thrombocytopenia, Splenomegaly, Lymph... ORPHA:507
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatic steatosis, Hypertriglyceridemia, Microcytic anemia, Hepatosplenomegaly, Hypoalbuminemia, ... OMIM:619013
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia, Anemia OMIM:603278
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs... OMIM:226990
Macrophage Activation Syndrome
Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increa... ORPHA:158061
Alg6-Cdg
Puberty and gonadal disorders, Jaundice, Decreased LDL cholesterol concentration, Increased circu... ORPHA:79320
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Microcytic anemia, Hypoalbuminemia, Hepatic steatosis, Pancreatitis OMIM:618805
Hyperparathyroidism 1
Primary hyperparathyroidism, Hypercalcemia OMIM:145000
Reni Syndrome
Hypertriglyceridemia, Cryptorchidism, Hypogonadism, Adrenal insufficiency, Hypoalbuminemia, Micro... OMIM:617575
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Kennedy Disease
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Abnormal circulating lipid ... ORPHA:481
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Abnormal lymphatic vessel morphology, Reduced proportion of CD4+ effector me... ORPHA:90362
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Congenital hypoparathyroidism, Hypocalcemia, Hypocalcemic seizures ORPHA:93324
Pseudohypoparathyroidism, Type Ic
Elevated circulating thyroid-stimulating hormone concentration, Pseudohypoparathyroidism, Elevate... OMIM:612462
Chylomicron Retention Disease
Hypotriglyceridemia, Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia OMIM:246700
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Oculoskeletodental Syndrome
Hepatomegaly, Hypercalcemia, Cryptorchidism, Splenomegaly, Hypocalcemia, Hypothyroidism OMIM:618440
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin co... OMIM:603553
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Cryptorchidism, Pancreatic lymphangiectasis, Splenomegaly, Pulmonary lymphangiectas... ORPHA:1655
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... ORPHA:103910
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ... OMIM:241410
Autoimmune Hypoparathyroidism
Autoimmune hypoparathyroidism, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic... ORPHA:36913
Parathyroid Carcinoma
Hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia OMIM:608266
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Thyroid lymphangiectasia, Cryptorchidism, Pancreatic lymphangiectasis, Splenomegaly... OMIM:235255
Gracile Bone Dysplasia
Asplenia, Micropenis, Hypoplastic spleen, Hypocalcemia OMIM:602361
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... ORPHA:52901
Mpi-Cdg
Hepatomegaly, Portal hypertension, Hepatic fibrosis, Hypoalbuminemia, Hyperinsulinemic hypoglycem... ORPHA:79319
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypospadias, Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Hypercalc... OMIM:614732
Galloway-Mowat Syndrome 6
Hypoalbuminemia, Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:618347
Intermediate Osteopetrosis
Thrombocytopenia, Hypocalcemia, Anemia, Hepatosplenomegaly ORPHA:210110
Adamantinoma
Hypercalcemia ORPHA:55881
Isolated Splenogonadal Fusion
Abnormal penis morphology, Unilateral cryptorchidism, Elevated circulating alpha-fetoprotein conc... ORPHA:457083
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Hyperparathyroidism 4
Primary hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia OMIM:617343
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Cryptorchidism, Elevated circulating thyroid-stimulating horm... OMIM:618183
Immunodeficiency 43
Decreased circulating beta-2-microglobulin level, B lymphocytopenia, Hypoalbuminemia, Reduced nat... OMIM:241600
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility, Elevated circulating creatine kinase concentration OMIM:313200
Granulomatous Slack Skin
Hypercalcemia, Abnormal lymph node morphology ORPHA:33111
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... ORPHA:247598
Hypotonia-Cystinuria Syndrome
Hypocalcemia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test OMIM:606407
Pseudopseudohypoparathyroidism
Abnormality of the endocrine system, Hypocalcemia, Elevated circulating parathyroid hormone level... ORPHA:79445
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hepatic stea... ORPHA:247585
Familial Isolated Hypoparathyroidism
Hypoparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Hypo... ORPHA:2238
X-Linked Agammaglobulinemia
Abnormality of the tonsils, Thrombocytopenia, Abnormality of the lymphatic system, Hepatitis, Hyp... ORPHA:47
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Hypercalcemia, Anemia, Abnormal vagina morphology, Thrombocytopenia ORPHA:2123
Hemochromatosis, Type 1
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Increased circulating ferritin co... OMIM:235200
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Wolcott-Rallison Syndrome
Hyponatremia, Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Jaundice, Hyperammonemi... ORPHA:1667
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Kenny-Caffey Syndrome, Type 1
Congenital hypoparathyroidism, Hypocalcemia, Anemia, Hypomagnesemia OMIM:244460
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Hypoalbuminemia, Hepatic fibrosis, Cirrhosis, Hyperinsulinemic hypoglycemia, Lympha... OMIM:602579
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni... ORPHA:540
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Hy... OMIM:242150
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Hypocalcemia, Hypophosphatemia ORPHA:89937
Generalized Pustular Psoriasis
Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... ORPHA:247353
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal hypertension, Splenome... OMIM:251880
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hyperparathyroidism, Hypercalcemia, Anemia ORPHA:2668
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Hypothyroidism, Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Intestinal... OMIM:226300
Thymic Neuroendocrine Tumor
Pituitary null cell adenoma, Pancreatic islet cell adenoma, Hypercalcemia, Neoplasm of the thymus... ORPHA:97289
Sanjad-Sakati Syndrome
Hypoparathyroidism, Hypoplasia of penis, Cryptorchidism, Hyperphosphatemia, Hypocalcemia, Congeni... ORPHA:2323
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypothyroidism, Hypoalbuminemia OMIM:256300
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:208920
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Hypocalcemia, Anemia ORPHA:53
Eosinophilic Gastroenteritis
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... ORPHA:2070
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Hyperthyroidism, Autoimmune thrombocytopenia, Abnormality of the end... ORPHA:37042
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Increased mean corpuscular ... OMIM:617021
Hyperparathyroidism 2 With Jaw Tumors
Hyperparathyroidism, Pancreatic adenocarcinoma, Hypercalcemia, Hurthle cell thyroid adenoma, Para... OMIM:145001
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Igg4-Related Thyroid Disease
Nodular goiter, Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter... ORPHA:64744
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia ORPHA:557003
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypocalcemia, Anemia, Hypomagnesemia OMIM:175500
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Hypocalcemia, Thrombocytopenia OMIM:259700
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... ORPHA:88618
Liver Failure, Infantile, Transient
Hepatomegaly, Microvesicular hepatic steatosis, Jaundice, Hypoalbuminemia, Macrovesicular hepatic... OMIM:613070
Pseudohypoparathyroidism Type 1B
Calcinosis, Decreased response to growth hormone stimulation test, Pseudohypoparathyroidism, Elev... ORPHA:94089
Congenital Disorder Of Glycosylation, Type Ig
Small scrotum, Hypospadias, Cryptorchidism, Hypocalcemia, Micropenis OMIM:607143
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Peritonitis, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating li... ORPHA:567548
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Elevated circulating parathyroid hormone level, Hypocalcemia, Secondary hyperparathyroidism, Hypo... OMIM:264700
Congenital Enterovirus Infection
Abnormal macrophage morphology, Thrombocytopenia, Leukocytosis, Hepatitis, Hyperammonemia, Choles... ORPHA:292
Dahlberg-Borer-Newcomer Syndrome
Hypoparathyroidism, Hypothyroidism, Hypocalcemia ORPHA:1563
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili... ORPHA:529808
Acute Bilirubin Encephalopathy
Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili... ORPHA:529799
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti... ORPHA:86839
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... ORPHA:64753
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatomegaly, Portal hypertension, Hepatosplenomegaly, Hypoalbuminemia, Cirrhosis ORPHA:367
Rhabdoid Tumor
Hypercalcemia, Lymphadenopathy, Anemia, Neoplasm of the liver, Thrombocytopenia ORPHA:69077
Colchicine Poisoning
Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo... ORPHA:31824
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenom... OMIM:259720
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia ORPHA:99845
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Hyperammonemia, Decreased seru... OMIM:617093
Genetic Steroid-Resistant Nephrotic Syndrome
Peritonitis, Hypoalbuminemia ORPHA:656
Timothy Syndrome
Hypothyroidism, Hypocalcemia OMIM:601005
Aicardi-Goutieres Syndrome 9
Hemolytic anemia, Hepatomegaly, Acute pancreatitis, Portal hypertension, Hypothyroidism, Hepatosp... OMIM:619487
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Increased circulating free fatt... ORPHA:26793
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia ORPHA:2494
Avian Influenza
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:454836
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypocalcemia, Hypophosphatemia OMIM:600081
Pseudohypoparathyroidism Type 1C
Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test... ORPHA:79444
Hypocalcemic Vitamin D-Resistant Rickets
Hyperparathyroidism, Hypocalcemia, Hypophosphatemia ORPHA:93160
Hypocalciuric Hypercalcemia, Familial, Type I
Hyperparathyroidism, Hypercalcemia, Hypermagnesemia, Parathyroid adenoma, Pancreatitis OMIM:145980
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Peritonitis, Elevated circulating creatinine ... ORPHA:36234
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Thrombocytopenia, Splenomegaly, Leukopenia, Hypoalbuminemia, Macrovesicular hepatic... OMIM:617303
Double Outlet Right Ventricle
Hypoparathyroidism, Hypocalcemia, Aplasia/Hypoplasia of the thymus ORPHA:3426
Pearson Syndrome
Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, Ne... ORPHA:699
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Congenital Analbuminemia
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia ORPHA:86816
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Thyroid lymphangiectasia, Cryptorchidism, Pulmonary lymphangiectasi... OMIM:235510
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Primary Biliary Cholangitis
Portal hypertension, Abnormality of the thyroid gland, Conjugated hyperbilirubinemia, Jaundice, B... ORPHA:186
Trichohepatoenteric Syndrome 1
Hepatomegaly, Hypospadias, Increased mean platelet volume, Abnormality of the pancreas, Splenomeg... OMIM:222470
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hyperparathyroidism, Hypercalcemia OMIM:239199
Blue Diaper Syndrome
Decreased circulating T4 concentration, Elevated circulating thyroid-stimulating hormone concentr... ORPHA:94086
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Thyroiditis, Iron deficiency anemia, Infertility, Hypocalcemia, Delayed pubert... OMIM:212750
Wilson Disease
Hypoparathyroidism, Hemolytic anemia, Hepatomegaly, Decreased circulating ceruloplasmin concentra... OMIM:277900
Hypocalcemic Vitamin D-Dependent Rickets
Elevated circulating parathyroid hormone level, Hypocalcemia, Secondary hyperparathyroidism, Hypo... ORPHA:289157
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp... ORPHA:94093
Familial Isolated Hyperparathyroidism
Hypercalcemia, Primary hyperparathyroidism, Elevated circulating parathyroid hormone level, Hypop... ORPHA:99879
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert... ORPHA:465508
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Abnormal circulating lipid concentration, Enlarged polycystic ovaries, Abnormal... ORPHA:2298
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Diffuse hepatic steatosis, Hypocalcemia, Cholestasis ORPHA:746
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia, Anemia OMIM:127000
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Hypocalciuric Hypercalcemia, Familial, Type Ii
Pancreatitis, Primary hyperparathyroidism, Hypermagnesemia, Hypercalcemia OMIM:145981
Congenital Disorder Of Glycosylation, Type Ia
Hepatic steatosis, Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism,... OMIM:212065
Alg12-Cdg
Hyponatremia, Decreased serum insulin-like growth factor 1, Hypospadias, Cryptorchidism, Hypoalbu... ORPHA:79324
Al Amyloidosis
Hepatomegaly, Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Abnormality of ... ORPHA:85443
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Conjugated hyperbilirubinemia, Microvesicular hepatic steatosis, Jaundice, Chol... OMIM:617156
Pseudohypoparathyroidism Type 1A
Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test... ORPHA:79443
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hepatomegaly, Hypercalcemia, Splenomegaly, Primary hyperparathyroidism, Elevated circ... OMIM:239200
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Diabetes mellitus, Septate vagina, Uterus didelphys, Parathyroid hypoplasia, ... ORPHA:2237
Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, Hypogonadism, Hyperphos... OMIM:103580
Primary Sclerosing Cholangitis
Hepatomegaly, Cholangiocarcinoma, Abnormal eosinophil morphology, Portal hypertension, Hepatocell... ORPHA:171
Combined Oxidative Phosphorylation Deficiency 37
Hyperalaninemia, Bile duct proliferation, Hypoalbuminemia, Macrovesicular hepatic steatosis OMIM:618329
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Hypospadias, Cryptorchidism, Thrombocytopenia, Hypocalcemia, Hyperbilirubinem... ORPHA:163979
Cholera
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration ORPHA:173
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased serum iron, Anemia, Decreased serum zinc, Hypoalbuminemia, Decreased circulating carnit... ORPHA:89842
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Hepatic steatosis, Reticulocytosis, Hepatomegaly, Acanth... ORPHA:14
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Splenomegaly, Hypokalemia, Hypocalcemia OMIM:617913
Hypophosphatemic Rickets And Hyperparathyroidism
Hyperparathyroidism, Hypercalcemia, Hypophosphatemic rickets, Elevated circulating parathyroid ho... OMIM:612089
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hydrocele testis, Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... ORPHA:411634
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia ORPHA:352540
Liver Disease, Severe Congenital
Biliary hyperplasia, Leukopenia, Hypocalcemia, Lymphocytosis, Elevated hepatic iron concentration... OMIM:619991
Craniofacioskeletal Syndrome
Absent gallbladder, Hypospadias, Hypocalcemia, Cryptorchidism OMIM:300712
Hypercalcemia, Infantile, 1
Hypercalcemia, Decreased circulating parathyroid hormone level OMIM:143880
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia, Anemia OMIM:174900
Hypophosphatasia
Hypercalcemia, Anemia ORPHA:436
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Bone marrow hypocellularity, Cirrhosis, Testicular atrophy, Thrombocytopenia OMIM:613987
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hepatic calcification, Hyperaldosteronism, Hypocalcemia, Hypomagnesemia, Hypocalcemic tetany ORPHA:73224
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... OMIM:308750
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Reduced circulating growth hormone concentration, Hypoalbuminemia OMIM:615508
Velocardiofacial Syndrome
Hypoparathyroidism, Cryptorchidism, Hypocalcemia OMIM:192430
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Amoebiasis Due To Entamoeba Histolytica
Leukocytosis, Liver abscess, Hypoalbuminemia, Anemia ORPHA:67
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Hyponatremia, Decreased circulating cortisol level, Premature ovarian insuffi... ORPHA:199299
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Parathyroid hyperplasia, Elevated circulating parathyroid hormone level, Hypercalcemia, Hyperphos... OMIM:617994
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Neonatal death, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:619055
Addison Disease
Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasi... ORPHA:85138
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pancytopenia, Small scrotum, Portal hypertension, Cholestasis, Hypoalbuminemia, Bile duct prolife... OMIM:613658
Marburg Hemorrhagic Fever
Reticulocytosis, Lymphopenia, Elevated circulating creatine kinase concentration, Hyperamylasemia... ORPHA:99826
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase concentration, Thrombocytopenia,... ORPHA:2785
Autosomal Dominant Kenny-Caffey Syndrome
Abnormal circulating follicle-stimulating hormone concentration, Anemia, Hyperphosphatemia, Hypoc... ORPHA:93325
Autosomal Dominant Hypocalcemia
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:428
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypercalcemia, Primary hyperparathyroidism, Hypermagnesemia, Hypophosphatemia, Pancreatitis OMIM:600740
Hypophosphatasia, Infantile
Stillbirth, Elevated plasma pyrophosphate, Hypercalcemia, Anemia OMIM:241500
Hennekam Syndrome
Splenomegaly, Pulmonary lymphangiectasia, Lymphadenopathy, Hypocalcemia, Lymphangioma, Lymphopenia ORPHA:2136
Xfe Progeroid Syndrome
Premature ovarian insufficiency, Hypoalbuminemia OMIM:610965
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Hypercalcemia, Paraganglioma ORPHA:94080
Infantile Myofibromatosis
Neoplasm of the pancreas, Hypercalcemia ORPHA:2591
Bone Marrow Failure Syndrome 5
Pure red cell aplasia, Erythroid hypoplasia, Hypogonadism, Testicular atrophy, Anemia OMIM:618165
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Fol... OMIM:619381
Gitelman Syndrome
Neoplasm of the pancreas, Maternal diabetes, Hypomagnesemia, Hypermagnesemia, Diabetic ketoacidos... ORPHA:358
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, Th... ORPHA:83471
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Multiple Endocrine Neoplasia, Type I
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Hypercalcemia, ... OMIM:131100
Secondary Intestinal Lymphangiectasia
Lymphopenia, Reduced circulating transferrin concentration, Hypoalbuminemia, Cirrhosis, Hypochole... ORPHA:90363
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hepatosplenomegaly, Anemia, Leukopenia, Hypoalbuminemia, Bone marrow hypocellularity, Thrombocyto... ORPHA:505248
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Hepatomegaly, Small scrotum, Hypospadias, Septate vagina, Precocious puberty, Cryp... OMIM:270400
Uremic Pruritus
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Normochromic anemia, Hypoalbuminemia, Thrombocytopenia OMIM:254900
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcemia, Hypophosphatemia, Anemia ORPHA:667
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Hyperthyroidism, Hypospadias, Abnormality of the tonsils, Cryptorchidism, Spl... ORPHA:567
Cartilage-Hair Hypoplasia
Hepatomegaly, Abnormality of the pancreas, Hypocalcemia, Neutropenia, Anemia ORPHA:175
Pheochromocytoma--Islet Cell Tumor Syndrome
Pheochromocytoma, Hypercalcemia OMIM:171420
Acute Adrenal Insufficiency
Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Decreased female libido, H... ORPHA:95409
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hemolytic anemia, Diabetes mellitus, Leukocytosis, Hyperkalemia, Hypocalcemia, Panc... ORPHA:544482
Isotretinoin-Like Syndrome
Lymphopenia, Hypocalcemia ORPHA:2306
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia ORPHA:31826
Vipoma
Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Neoplasm of the liver, Increas... ORPHA:97282
Galloway-Mowat Syndrome 3
Hypoalbuminemia OMIM:617729
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Testicular atrophy OMIM:160900
Juvenile Polyposis Of Infancy
Anemia, Refractory anemia, Hypoalbuminemia, Freckled genitalia ORPHA:79076
Digeorge Syndrome
Hepatic steatosis, Parathyroid agenesis, Decreased circulating parathyroid hormone level, Thrombo... OMIM:188400
Ppoma
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen... ORPHA:97278
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Grfoma
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen... ORPHA:97261
Multiple Myeloma
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphadenopathy, Hype... ORPHA:29073
Somatostatinoma
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Hypercalcemia, Elevated circulating gr... ORPHA:97283
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Increased blood urea nitrogen, Hypercalcemia, Delayed puberty ORPHA:251004
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Hypercalcemia, Testicular neoplasm, Primary hyperparathyroidism, Abnor... ORPHA:99880
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Galloway-Mowat Syndrome 1
Hypoalbuminemia OMIM:251300
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Hypercalcemia, Testicular neoplasm, Primary hyperparathyroidism, Abnor... ORPHA:143
Fibrous Dysplasia Of Bone
Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Elevated circulating growth ho... ORPHA:249
Wolfram Syndrome 1
Sideroblastic anemia, Diabetes mellitus, Diabetes insipidus, Megaloblastic anemia, Hypothyroidism... OMIM:222300
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia... ORPHA:466650
Metaphyseal Chondrodysplasia, Jansen Type
Hypoparathyroidism, Hypercalcemia, Hypophosphatemia OMIM:156400
Johanson-Blizzard Syndrome
Hepatomegaly, Diabetes mellitus, Hypospadias, Septate vagina, Urethrovaginal fistula, Conjugated ... OMIM:243800
Cranioectodermal Dysplasia 1
Hepatomegaly, Malformation of the hepatic ductal plate, Hepatic fibrosis, Hypocalcemia, Hepatic c... OMIM:218330
Zollinger-Ellison Syndrome
Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ... ORPHA:913
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia, Anemia ORPHA:79396
Monosomy 13Q34
Hepatic steatosis, Metrorrhagia, Hypercalcemia ORPHA:96168
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypercalcemia, Adrenal pheochromoc... ORPHA:276621
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... OMIM:305400
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hemolytic anemia, Decreased response to growth hormone stimulation test, Portal hypertension, Cry... OMIM:619503
Glucagonoma
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Hypercalcemia, Elevated circulating gr... ORPHA:97280
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Pancreatitis, Hypocalcemic seizures ORPHA:405
Charge Syndrome
Hypoparathyroidism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:214800
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hepatic fibrosis, ... OMIM:619534
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... ORPHA:652
Lesch-Nyhan Syndrome
Testicular atrophy, Hyperuricemia, Megaloblastic anemia OMIM:300322
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia OMIM:602080
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Hypercalcemia, Hypochlor... OMIM:601678
Multiple Endocrine Neoplasia Type 2
Paraganglioma of head and neck, Cervical neoplasm, Hypercalcemia, Thyroid C cell hyperplasia, Cer... ORPHA:653
Hereditary Pheochromocytoma-Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypercalcemia, Adrenal pheochromoc... ORPHA:29072
Pheochromocytoma
Pheochromocytoma, Hypercalcemia OMIM:171300
Vitamin D-Dependent Rickets, Type 2A
Hypocalcemic seizures, Elevated circulating parathyroid hormone level, Secondary hyperparathyroid... OMIM:277440
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Precocious puberty, Hypertriglyceridemia, Hypercalcemia ORPHA:369837
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia ORPHA:476126
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Small scrotum, Hypocalcemia OMIM:620330
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... OMIM:157640
Tropical Endomyocardial Fibrosis
Splenomegaly, Hepatomegaly, Hypoalbuminemia, Eosinophilia ORPHA:75565
Sarcoidosis
Hemolytic anemia, Hepatomegaly, Hyperthyroidism, Diabetes insipidus, Hypercalcemia, Portal hypert... ORPHA:797
Autosomal Recessive Hypophosphatemic Rickets
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia ORPHA:289176
Pmm2-Cdg
Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, Impaired neutro... ORPHA:79318
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Osteopetrosis, Autosomal Recessive 7
Anemia, Hepatomegaly, Hypocalcemic seizures, Splenomegaly OMIM:612301
X-Linked Intellectual Disability, Snyder Type
Cryptorchidism, Hypospadias, Abnormality of the Leydig cells, Testicular atrophy ORPHA:3063
Williams Syndrome
Hypoplasia of penis, Hypogonadotropic hypogonadism, Hypercalcemia, Elevated circulating creatine ... ORPHA:904
Steinert Myotonic Dystrophy
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... ORPHA:273
Sotos Syndrome
Hypospadias, Hypercalcemia, Phimosis, Cryptorchidism, Decreased fertility, Hydrocele testis, Acut... ORPHA:821
Williams-Beuren Syndrome
Diabetes mellitus, Hypercalcemia, Portal hypertension, Early onset of sexual maturation, Micropen... OMIM:194050

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 Lrrc8c

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 Lrrc8c.

No publications found that use IMPC mice or data for Lrrc8c.

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MGI Allele Allele Type Produced
Lrrc8cem1(IMPC)Mbp Exon Deletion Mice, Tissue

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