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Gene: Lrrc8c MGI:2140839

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Gene Summary

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

Order Alleles

IMPC Data Collections

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 System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Lrrc8cem1(IMPC)Mbp HOM Early adult 0.00
abnormal eye morphology Lrrc8cem1(IMPC)Mbp HOM Early adult 0.00
abnormal spleen morphology Lrrc8cem1(IMPC)Mbp HOM Early adult 0.00
decreased circulating serum albumin level Lrrc8cem1(IMPC)Mbp HOM Early adult 9.78×10-05
small testis Lrrc8cem1(IMPC)Mbp HOM Early adult 0.00
decreased circulating calcium level Lrrc8cem1(IMPC)Mbp HOM Early adult 3.55×10-06
abnormal testis morphology Lrrc8cem1(IMPC)Mbp HOM Early adult 0.00

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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 Dorso Ventral

21 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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Histopathology

Images

3 Images

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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
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Decreased circulating parathyroid hormone... OMIM:618883
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia, T lymphocytopenia DECIPHER:16
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia, Abnormal blood phosphate concentration OMIM:615361
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Portal fibrosis, Hepatomegaly, Increased serum bile acid concentration, Increased total... OMIM:619868
Pseudohypoparathyroidism, Type Ii
Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypo... OMIM:203330
Pseudohypoparathyroidism Type 2
Elevated circulating parathyroid hormone level, Hypocalcemic seizures, Hypocalcemia, Pseudohypopa... ORPHA:94090
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Cholestasis, ... OMIM:619658
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hepatomegaly, Hypercholesterolemia, Hypocalcemia, Hepatosplenomegaly, Splen... OMIM:612526
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Hypocalcemic seizures, Congenital hypoparathyroidism, Hypocalcemia, Hypomagnese... ORPHA:2239
Progressive Familial Intrahepatic Cholestasis
Jaundice, Hepatomegaly, Hypocalcemia, Cholestasis, Splenomegaly ORPHA:172
Alpha-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Hypocalcemia, Splenomegaly ORPHA:100025
Immunodeficiency 115 With Autoinflammation
Intestinal lymphangiectasia, Anemia, Elevated circulating C-reactive protein concentration, Eleva... OMIM:620632
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Decreased hepatic echogenicity, Increased circulating creatine kinase MM isoform... OMIM:613752
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Diarrhea 13
Hypoalbuminemia, Hepatic steatosis OMIM:620357
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemic seizures, Hypoparathyroidism, Hypocalcemia, Hyperphosphatemia, Decreased circulating... OMIM:146200
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Congenital hypothyroidism ORPHA:88643
Pseudohypoparathyroidism, Type Ib
Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypo... OMIM:603233
Immunodeficiency 27A
Anemia, Thrombocytosis, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Hypoalbu... OMIM:209950
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
2P21 Microdeletion Syndrome
Hypocalcemia, Hypogonadism ORPHA:163693
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Elevated circulating parathyroid hormone level, Hypophosphatemia OMIM:619073
Refractory Celiac Disease
Normocytic anemia, Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Hypoproteinemia, Incr... ORPHA:398063
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia OMIM:615863
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Nephrotic Syndrome, Type 7
Hypoalbuminemia, Thrombocytopenia, Hemolytic anemia OMIM:615008
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, El... OMIM:308240
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypothyroidism, Hepatosplenomegaly, Hypopituitarism, Hypoalbuminemia, Hepat... OMIM:619013
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Anemia, Elevated circulating C-reactive protein con... OMIM:616050
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... OMIM:616000
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Anemia, Cholestasis, Hypothyroidism, Neonatal death, Thrombocytopenia, Decreased ci... OMIM:608104
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypocalcemia, Increased circulating renin level, Hypomagnesemia, Hyperphosphatemia, ... OMIM:601198
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Jaundice, Anemia, Periportal fibrosis, Hyperbilirubinemia, ... ORPHA:64743
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Jaundice, Hemophagoc... OMIM:267700
Hypogonadism, Male
Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias OMIM:241100
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypokalemia OMIM:620152
Leishmaniasis
Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Abnormal macrophage morphology, Leukopenia, ... ORPHA:507
Hyperparathyroidism 1
Hypercalcemia, Primary hyperparathyroidism OMIM:145000
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hyperkalemia, Jaundice, Hepatomegaly, Microvesicular hepatic steatosis, Cholestasis, Increased to... OMIM:618528
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia, Anemia OMIM:603278
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Alg6-Cdg
Jaundice, Decreased LDL cholesterol concentration, Abnormality of the liver, Hypoalbuminemia, Inc... ORPHA:79320
Pseudohypoparathyroidism, Type Ic
Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating parathyroid ... OMIM:612462
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Reni Syndrome
Hypertriglyceridemia, Hypothyroidism, Hypogonadism, Lymphopenia, Hypoalbuminemia, Cryptorchidism,... OMIM:617575
Immunodeficiency 32B
Hepatomegaly, Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Hypoalbuminemi... OMIM:226990
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Pancreatitis, Hypoalbuminemia, Hepatic steatosis, Microcytic anemia OMIM:618805
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Intestinal lymphangiectasia, Anemia, Decreased proportion of CD3-positive T ... ORPHA:90362
Parathyroid Carcinoma
Parathyroid carcinoma, Hypercalcemia, Hyperparathyroidism OMIM:608266
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Hypocalcemic seizures, Congenital hypoparathyroidism, Hypocalcemic tetany ORPHA:93324
Spondyloepiphyseal Dysplasia, Nishimura Type
Hypocalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormone level OMIM:618618
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Macrophage Activation Syndrome
Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count,... ORPHA:158061
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Abnormal fallopian tube morphology, Hypocalcemia, Pancreatic lymphangiectasis, Hypo... ORPHA:1655
Kennedy Disease
Abnormal circulating lipid concentration, Erectile dysfunction, Type II diabetes mellitus, Decrea... ORPHA:481
Oculoskeletodental Syndrome
Hepatomegaly, Hypocalcemia, Hypothyroidism, Hypercalcemia, Splenomegaly, Cryptorchidism OMIM:618440
Gracile Bone Dysplasia
Hypocalcemia, Hypoplastic spleen, Micropenis, Asplenia OMIM:602361
Hyperparathyroidism 4
Parathyroid carcinoma, Hypercalcemia, Primary hyperparathyroidism OMIM:617343
Chylomicron Retention Disease
Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia OMIM:246700
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Hypocalcemic seizures, Decreased circulati... OMIM:241410
Autoimmune Hypoparathyroidism
Hypocalcemic seizures, Hypocalcemia, Autoimmune hypoparathyroidism, Hypocalcemic tetany, Hyperpho... ORPHA:36913
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Pancytopenia, Lymphadenop... OMIM:603553
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Isolated Splenogonadal Fusion
Abnormal epididymis morphology, Ectopia of the spleen, Bilateral cryptorchidism, Unilateral crypt... ORPHA:457083
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Decreased response to growth hormone stimulation test, Hypospadias, Adrenal hypoplasia, Hypercalc... OMIM:614732
Mpi-Cdg
Hepatomegaly, Hyperinsulinemic hypoglycemia, Portal hypertension, Hypothyroidism, Hypoalbuminemia... ORPHA:79319
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating polysaccharide concentration, Abnormal circulating protein ... ORPHA:103910
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Hypocalcemia, Pancreatic lymphangiectasis, Hypoproteinemia, Splenomegaly, Pulmonary... OMIM:235255
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Pseudohypoparathyroidism Type 1B
Decreased response to growth hormone stimulation test, Hypocalcemic seizures, Elevated circulatin... ORPHA:94089
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Isolated Follicle Stimulating Hormone Deficiency
Delayed puberty, Azoospermia, Decreased female libido, Oligozoospermia, Testicular atrophy, Delay... ORPHA:52901
Galloway-Mowat Syndrome 6
Hypothyroidism, Hypoalbuminemia, Decreased response to growth hormone stimulation test OMIM:618347
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Elevated circulating thyroid-stimulating hormone concentration, Hypocalcemi... OMIM:618183
Hypotonia-Cystinuria Syndrome
Hypocalcemia, Decreased response to growth hormone stimulation test, Hypergonadotropic hypogonadism OMIM:606407
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Anemia, Abnormal vagina morphology, Hypercalcemia, Thrombocytopenia ORPHA:2123
Adamantinoma
Hypercalcemia ORPHA:55881
Familial Isolated Hypoparathyroidism
Hypocalcemia, Abnormal circulating calcium-phosphate regulating hormone concentration, Hypoparath... ORPHA:2238
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Granulomatous Slack Skin
Hypercalcemia, Abnormal lymph node morphology ORPHA:33111
Immunodeficiency 43
B lymphocytopenia, Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbumin... OMIM:241600
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Renal Tubular Acidosis, Distal, 1
Hypocalcemia, Elevated circulating creatinine concentration, Hypokalemia OMIM:179800
X-Linked Agammaglobulinemia
Anemia, Hypocalcemia, Abnormality of the tonsils, Abnormality of the lymphatic system, Thrombocyt... ORPHA:47
Thymic Neuroendocrine Tumor
Neoplasm of the endocrine system, Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Neo... ORPHA:97289
Wolcott-Rallison Syndrome
Hepatomegaly, Jaundice, Iron deficiency anemia, Neonatal insulin-dependent diabetes mellitus, Lym... ORPHA:1667
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Elevated circulating creatine kinase concentration, Decreased fertility, Testicular atrophy OMIM:313200
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Elevat... ORPHA:247585
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia, Anemia, Hyperparathyroidism ORPHA:2668
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia, Anemia, Congenital hypoparathyroidism OMIM:244460
Igg4-Related Thyroid Disease
Euthyroid goiter, Sclerosing cholangitis, Sialadenitis, Hypocalcemia, Thyroiditis, Abnormal pitui... ORPHA:64744
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Lymphangiectasis, Hepatomegaly, Hyperinsulinemic hypoglycemia, Hypoalbuminemia, Hepati... OMIM:602579
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Intestinal lymphangiectasia, Anemia, Iron deficiency anemia, Hepatomegaly, Hypoproteinemia, Hypot... OMIM:226300
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Cirrhosis, Increased serum bile acid concentration, Decreased circulating ceruloplasmin concentra... OMIM:242150
Hyperparathyroidism 2 With Jaw Tumors
Parathyroid carcinoma, Hurthle cell thyroid adenoma, Recurrent pancreatitis, Parathyroid adenoma,... OMIM:145001
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hypophosphatemia, Iron deficiency anemia ORPHA:89937
Generalized Pustular Psoriasis
Elevated circulating C-reactive protein concentration, Hypocalcemia, Leukocytosis, Hyponatremia, ... ORPHA:247353
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Hypertriglyceridemia, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia... ORPHA:540
Hemochromatosis, Type 1
Cirrhosis, Hepatomegaly, Azoospermia, Hepatocellular carcinoma, Testicular atrophy, Impotence, Di... OMIM:235200
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Iron deficiency anemia, Lymphadenopathy, Reduced proportion of CD4-n... ORPHA:37042
Sanjad-Sakati Syndrome
Hypoparathyroidism, Congenital hypoparathyroidism, Hypoplasia of penis, Hypocalcemia, Hyperphosph... ORPHA:2323
Nephrotic Syndrome, Type 1
Hypothyroidism, Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia OMIM:256300
Eosinophilic Gastroenteritis
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinophilia, Hypoal... ORPHA:2070
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Jaundice, Hepatomegaly, Periportal fibrosis, Hyperbilirubinemia, Portal hypertension, Hepatocellu... OMIM:251880
Albers-Schönberg Osteopetrosis
Hypocalcemia, Abnormal leukocyte morphology, Anemia ORPHA:53
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Hypocholesterolemia, Hepatomegaly, Splenomegaly OMIM:608776
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Anemia, Increased mean corpuscular volume, Sideroblastic anemia, Thrombocytopenia, Hypoalbuminemi... OMIM:617021
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Oculoskeletodental Syndrome
Hypocalcemia, Hypercalcemia ORPHA:557003
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia, Hypothyroidism, Hypoparathyroidism ORPHA:1563
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypocalcemia, Hypomagnesemia, Anemia, Hypokalemia OMIM:175500
Congenital Disorder Of Glycosylation, Type Ig
Hypospadias, Hypocalcemia, Small scrotum, Cryptorchidism, Micropenis OMIM:607143
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Elevated circulating parathyroid hormone level, Hypocalcemic seizures, Hypocalcemia, Hypophosphat... OMIM:264700
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Hypocalcemic Vitamin D-Dependent Rickets
Elevated circulating parathyroid hormone level, Hepatomegaly, Hypocalcemic seizures, Hypocalcemia... ORPHA:289157
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Liver Failure, Infantile, Transient
Jaundice, Macrovesicular hepatic steatosis, Hepatomegaly, Microvesicular hepatic steatosis, Hyper... OMIM:613070
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormal circulating homocysteine concentration, Abnormal circulating methionine concentration, H... ORPHA:88618
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Anemia, Pancytopenia, Hypocalcemia, Thrombocytopenia, Splenomegaly OMIM:259700
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Abnormal circulating lipid concentration, Peritonitis, Hypoalbuminemia, Hyp... ORPHA:567548
Congenital Enterovirus Infection
Anemia, Abnormal macrophage morphology, Cholestasis, Leukocytosis, Hyperammonemia, Leukopenia, Th... ORPHA:292
Chronic Bilirubin Encephalopathy
Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Hemolyt... ORPHA:529808
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal circulating protein ... ORPHA:86839
Acute Bilirubin Encephalopathy
Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Hemolyt... ORPHA:529799
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Cirrhosis, Hepatomegaly, Portal hypertension, Hepatosplenomegaly, Hypoalbuminemia ORPHA:367
Timothy Syndrome
Hypocalcemia, Hypothyroidism OMIM:601005
Colchicine Poisoning
Hypokalemia, Hypocalcemia, Leukocytosis, Hyponatremia, Hypomagnesemia, Hypophosphatemia, Abnormal... ORPHA:31824
Genetic Recurrent Myoglobinuria
Hypocalcemia, Hyperphosphatemia, Highly elevated creatine kinase, Hyperkalemia ORPHA:99845
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Osteopetrosis, Autosomal Recessive 5
Stillbirth, Hepatomegaly, Anemia, Hypochromic microcytic anemia, Pancytopenia, Hypocalcemia, Hype... OMIM:259720
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Pancreatitis, Hypercalcemia, Parathyroid adenoma, Hyperparathyroidism OMIM:145980
Rhabdoid Tumor
Anemia, Lymphadenopathy, Thrombocytopenia, Hypercalcemia, Neoplasm of the liver ORPHA:69077
Spinocerebellar Ataxia Type 32
Male infertility, Testicular atrophy, Azoospermia ORPHA:276183
Avian Influenza
Elevated circulating C-reactive protein concentration, Elevated circulating creatine kinase conce... ORPHA:454836
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Intrahepatic cholestasis, Jaundice, Hyperammonemia, Conjugated hyperbilirubinemia, Decreased seru... OMIM:617093
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Anemia, Acute pancreatitis, Portal hypertension, Hypothyroidism, Hepatosplenomegaly... OMIM:619487
Pseudohypoparathyroidism Type 1C
Decreased response to growth hormone stimulation test, Calcinosis, Hypocalcemic seizures, Elevate... ORPHA:79444
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Jaundice, Hepatomegaly, Hypocalcemia, Hypoproteinemia, Elevated circulating creatine kinase conce... ORPHA:26793
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Hypophosphatemia, Hyperparathyroidism ORPHA:93160
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Peritonitis ORPHA:656
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia, Hyperparathyroidism OMIM:239199
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration, Elevat... ORPHA:64753
Ménétrier Disease
Hypoalbuminemia, Hypoproteinemia, Hypochromic microcytic anemia ORPHA:2494
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypocalcemia, Hypophosphatemia OMIM:600081
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Trichohepatoenteric Syndrome 1
Cirrhosis, Jaundice, Hepatomegaly, Hypospadias, Abnormality of iron homeostasis, Hypermethioninem... OMIM:222470
Double Outlet Right Ventricle
Aplasia/Hypoplasia of the thymus, Hypoparathyroidism, Hypocalcemia ORPHA:3426
Pearson Syndrome
Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Hypophosphatemia, Pancreatic fibrosis... ORPHA:699
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Abnormal salivary gland morphology, Hyperinsulinemia, I... ORPHA:2298
Blue Diaper Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Hyperphosphatemia, Hypercalcemia,... ORPHA:94086
Familial Isolated Hyperparathyroidism
Elevated circulating parathyroid hormone level, Primary hyperparathyroidism, Hypercalcemia, Parat... ORPHA:99879
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Increased circulating myelocyte count, Elevated circulating creatine kinase concent... ORPHA:36234
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Macrovesicular hepatic steatosis, Anemia, Bone marrow hypocellularity, Leukopenia, ... OMIM:617303
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemic seizures, Hypoparathyroidism, Hypocalcemia, Aplasia of the uterus, Uterus didelphys,... ORPHA:2237
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Intestinal lymphangiectasia, Pleural lymphangiectasia, Pulmonary ly... OMIM:235510
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Anemia, Transient hypophosphatemia, Hypocalcemia, Hyperphosphatemia OMIM:127000
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia ORPHA:86816
Symptomatic Form Of Hfe-Related Hemochromatosis
Cirrhosis, Hepatomegaly, Abnormality of iron homeostasis, Erectile dysfunction, Hepatocellular ca... ORPHA:465508
Neuroleptic Malignant Syndrome
Hyperkalemia, Hyperuricemia, Hypocalcemia, Leukocytosis, Elevated circulating creatine kinase con... ORPHA:94093
Celiac Disease, Susceptibility To, 1
Delayed puberty, Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Thyroiditis, Infertilit... OMIM:212750
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Cirrhosis, Jaundice, Hepatomegaly, Hypercholesterolemia... ORPHA:186
Pseudohypoparathyroidism, Type Ia
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hypothyroidism, Hypocal... OMIM:103580
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypercalcemia, Hypermagnesemia, Pancreatitis, Primary hyperparathyroidism OMIM:145981
Congenital Disorder Of Glycosylation, Type Ia
Premature ovarian insufficiency, Hepatomegaly, Hypergonadotropic hypogonadism, Hypocholesterolemi... OMIM:212065
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia, Hypoparathyroidism, Cholestasis, Diffuse hepatic steatosis ORPHA:746
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:308700
Pseudohypoparathyroidism Type 1A
Decreased response to growth hormone stimulation test, Calcinosis, Hypocalcemic seizures, Elevate... ORPHA:79443
Al Amyloidosis
Abnormal salivary gland morphology, Hepatomegaly, Anemia, Increased circulating NT-proBNP concent... ORPHA:85443
Hypophosphatemic Rickets And Hyperparathyroidism
Elevated circulating parathyroid hormone level, Hypophosphatemic rickets, Parathyroid hyperplasia... OMIM:612089
Alg12-Cdg
Hypospadias, B lymphocytopenia, Hyponatremia, Thrombocytopenia, Decreased serum insulin-like grow... ORPHA:79324
Phoar2-Enteropathy Syndrome
Hypoalbuminemia OMIM:614441
Multiple Endocrine Neoplasia Type 4
Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop... ORPHA:276152
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hepatomegaly, Anemia, Elevated circulating parathyroid hormone level, Primary hyperpa... OMIM:239200
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Delayed puberty, Anemia, Decreased circulating carnitine concentration, Decreased circulating iro... ORPHA:89842
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Jaundice, Hypertyrosinemia, Microvesicular hepatic steatosis, Hyperbilirubinemia, Chol... OMIM:617156
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Anemia, Hypospadias, Hypocalcemia, Hyperbilirubinemia, Thrombocytopenia, Absent gallbladder, Cryp... ORPHA:163979
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Macrovesicular hepatic steatosis, Hyperalaninemia, Bile duct proliferation OMIM:618329
Primary Sclerosing Cholangitis
Cirrhosis, Jaundice, Abnormal biliary tract morphology, Pancreatitis, Cholelithiasis, Hepatomegal... ORPHA:171
Kallmann Syndrome With Spastic Paraplegia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:308750
Cholera
Abnormal blood ion concentration, Hyponatremia, Hypokalemia, Hypocalcemia ORPHA:173
Abetalipoproteinemia
Cirrhosis, Hepatomegaly, Anemia, Decreased HDL cholesterol concentration, Hypotriglyceridemia, Hy... ORPHA:14
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Calcinosis, Hypokalemia, Hypocalcemia, Hyponatremia, Splenomegaly OMIM:617913
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hyperlipidemia, Hydrocele testis ORPHA:567546
Hypercalcemia, Infantile, 1
Decreased circulating parathyroid hormone level, Hypercalcemia OMIM:143880
Juvenile Nephropathic Cystinosis
Hypokalemia, Hypocalcemia, Hypouricemia, Hypothyroidism, Hyponatremia, Hypophosphatemia, Hypocalc... ORPHA:411634
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Reduced circulating growth hormone concentration, Hypernatremia, Hypoalbuminemia OMIM:615508
Wilson Disease
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Anemia, Hypoparathyroidism, Decreased circula... OMIM:277900
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia ORPHA:352540
Liver Disease, Severe Congenital
Lymphocytosis, Hypoproteinemia, Biliary hyperplasia, Hyperammonemia, Leukopenia, Splenomegaly, He... OMIM:619991
Craniofacioskeletal Syndrome
Absent gallbladder, Cryptorchidism, Hypospadias, Hypocalcemia OMIM:300712
Addison Disease
Delayed puberty, Decreased circulating cortisol level, Type I diabetes mellitus, Decreased female... ORPHA:85138
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemia, Hypomagnesemia, Hyperaldosteronism, Hypocalcemic tetany, Hepatic calcification ORPHA:73224
Rajab Interstitial Lung Disease With Brain Calcifications 1
Cirrhosis, Anemia, Pancytopenia, Hypocalcemia, Cholestasis, Portal hypertension, Bile duct prolif... OMIM:613658
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia, Liver abscess, Anemia, Leukocytosis ORPHA:67
Hypophosphatasia
Hypercalcemia, Anemia ORPHA:436
Juvenile Polyposis Syndrome
Hypoalbuminemia, Anemia, Hypokalemia OMIM:174900
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Premature ovarian insufficiency, Hypoparathyroidism, Macrocytic anemia, Hyperu... ORPHA:199299
Velocardiofacial Syndrome
Hypocalcemia, Cryptorchidism, Hypoparathyroidism OMIM:192430
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoalbuminemia, Neonatal death, Elevated circulating creatine kinase concentration OMIM:619055
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Dyskeratosis Congenita, Autosomal Recessive 2
Cirrhosis, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Testicular atrophy OMIM:613987
Multiple Endocrine Neoplasia, Type I
Adenoma sebaceum, Glucagonoma, Adrenocortical adenoma, Pancreatic islet cell adenoma, Pituitary p... OMIM:131100
Marburg Hemorrhagic Fever
Jaundice, Pancreatitis, Lymphadenopathy, Hypokalemia, Neutrophilia in presence of infection, Abno... ORPHA:99826
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Anemia, Pancytopenia, Hypocalcemia, Elevated circulating creatine kinase concentrat... ORPHA:2785
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Pancreatitis, Primary hyperparathyroidism, Hypercalcemia, Hypophosphatemia OMIM:600740
Autosomal Dominant Hypocalcemia
Hypocalcemia, Hyperphosphatemia, Hypomagnesemia ORPHA:428
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic seizures, Anemia, Congenital hypoparathyroidism, Abnormal circulating follicle-stimu... ORPHA:93325
Gitelman Syndrome
Delayed puberty, Hypermagnesemia, Neoplasm of the pancreas, Maternal diabetes, Iron deficiency an... ORPHA:358
Non-Functioning Paraganglioma
Hypercalcemia, Paraganglioma, Paraganglioma of head and neck ORPHA:94080
Hypophosphatasia, Infantile
Hypercalcemia, Stillbirth, Anemia, Elevated plasma pyrophosphate OMIM:241500
Immunodeficiency 82 With Systemic Inflammation
Anemia, Lymphadenopathy, Anoperineal fistula, Elevated circulating C-reactive protein concentrati... OMIM:619381
T-Cell Immunodeficiency With Thymic Aplasia
Lymphadenopathy, Thyroiditis, Decreased proportion of naive T cells, T lymphocytopenia, Hypothyro... ORPHA:83471
Hennekam Syndrome
Lymphadenopathy, Hypocalcemia, Lymphangioma, Splenomegaly, Pulmonary lymphangiectasia, Lymphopenia ORPHA:2136
Infantile Myofibromatosis
Neoplasm of the pancreas, Hypercalcemia ORPHA:2591
Smith-Lemli-Opitz Syndrome
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Penoscrotal hypospadias, Hypospadias, Bifid s... OMIM:270400
Xfe Progeroid Syndrome
Hypoalbuminemia, Premature ovarian insufficiency OMIM:610965
Secondary Intestinal Lymphangiectasia
Cirrhosis, Decreased circulating prealbumin concentration, Secondary hyperaldosteronism, Lymphope... ORPHA:90363
Vipoma
Neoplasm of the pancreas, Normochromic anemia, Pituitary adenoma, Parathyroid adenoma, Neoplasm o... ORPHA:97282
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Bone Marrow Failure Syndrome 5
Anemia, Erythroid hypoplasia, Pure red cell aplasia, Hypogonadism, Testicular atrophy OMIM:618165
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia, Hepatosplenomegaly, Hypoalbumi... ORPHA:505248
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Hypoalbuminemia, Thrombocytopenia, Normochromic anemia OMIM:254900
Cartilage-Hair Hypoplasia
Hepatomegaly, Anemia, Hypocalcemia, Abnormality of the pancreas, Neutropenia ORPHA:175
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Parathyroid hyperplasia, Hyperphosphatemia, Hypercalcemia, Elevated circulating parathyroid hormo... OMIM:617994
Pheochromocytoma--Islet Cell Tumor Syndrome
Pheochromocytoma, Hypercalcemia OMIM:171420
Uremic Pruritus
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia ORPHA:94059
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Hypospadias, Cholelithiasis, Hypocalcemia, Abnormality of the tonsils, Hypopl... ORPHA:567
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Pancreatitis, Hypocalcemia, Leukocytosis, Hyponatremia, Thrombocytopenia, Diabetes ... ORPHA:544482
Acute Adrenal Insufficiency
Hyperkalemia, Delayed puberty, Normocytic anemia, Hyperuricemia, Adrenal hypoplasia, Androgen ins... ORPHA:95409
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Anemia, Lymphadenopathy, Hypocalcemia, Hypophosphatemia, Splenomegaly ORPHA:667
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Hypercalcemia, Hyperphosphatemia, Hyperparathyroidism OMIM:211900
Ppoma
Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Cholelithiasis, Increased circu... ORPHA:97278
Hypomagnesemia 3, Renal
Elevated circulating parathyroid hormone level, Hypocalcemic seizures, Increased circulating beta... OMIM:248250
Juvenile Polyposis Of Infancy
Hypoalbuminemia, Freckled genitalia, Refractory anemia, Anemia ORPHA:79076
Somatostatinoma
Intrahepatic cholestasis, Hepatomegaly, Neoplasm of the pancreas, Gallbladder dysfunction, Hypoch... ORPHA:97283
Grfoma
Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Cholelithiasis, Increased circu... ORPHA:97261
Ethylene Glycol Poisoning
Hypocalcemia, Hyperkalemia ORPHA:31826
Digeorge Syndrome
Anemia, Cholelithiasis, Hypocalcemia, Hypoplasia of the thymus, Hypothyroidism, Parathyroid hypop... OMIM:188400
Zollinger-Ellison Syndrome
Glucagonoma, Jaundice, Neuroendocrine neoplasm, Elevated circulating parathyroid hormone level, A... ORPHA:913
Galloway-Mowat Syndrome 3
Hypoalbuminemia OMIM:617729
Myotonic Dystrophy 1
Hypogonadism, Testicular atrophy, Cholelithiasis OMIM:160900
Hyperparathyroidism-Jaw Tumor Syndrome
Thyroid carcinoma, Elevated circulating parathyroid hormone level, Pancreatitis, Testicular neopl... ORPHA:99880
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Hypercalcemia, Delayed puberty, Episodic hemolytic anemia ORPHA:251004
Johanson-Blizzard Syndrome
Clitoral hypertrophy, Intrahepatic cholestasis, Hepatomegaly, Hypospadias, Rectovaginal fistula, ... OMIM:243800
Multiple Myeloma
Anemia, Lymphadenopathy, Hypercalcemia, Splenomegaly, Hyperproteinemia, Elevated circulating crea... ORPHA:29073
Fibrous Dysplasia Of Bone
Thyroid carcinoma, Precocious puberty in females, Abnormality of the endocrine system, Testicular... ORPHA:249
Parathyroid Carcinoma
Parathyroid carcinoma, Thyroid carcinoma, Elevated circulating parathyroid hormone level, Pancrea... ORPHA:143
Galloway-Mowat Syndrome 1
Hypoalbuminemia OMIM:251300
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalcemia, Hypoparathyroidism, Hypophosphatemia OMIM:156400
Kawasaki Disease
Cervical lymphadenopathy, Jaundice, Elevated circulating C-reactive protein concentration, Leukoc... ORPHA:2331
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Thrombocytopenia,... ORPHA:466650
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Cranioectodermal Dysplasia 1
Hepatomegaly, Hypocalcemia, Hepatic cysts, Hepatic fibrosis, Malformation of the hepatic ductal p... OMIM:218330
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia, Anemia ORPHA:79396
Wolfram Syndrome 1
Diabetes insipidus, Megaloblastic anemia, Hypothyroidism, Sideroblastic anemia, Thrombocytopenia,... OMIM:222300
Glucagonoma
Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Normochromic anemia, Increased ... ORPHA:97280
Sporadic Pheochromocytoma/Secreting Paraganglioma
Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Paraganglioma of head and neck, Hypercal... ORPHA:276621
Monosomy 13Q34
Hypercalcemia, Hepatic steatosis, Metrorrhagia ORPHA:96168
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Hypocalcemic seizures, Pancreatitis, Hypercalcemia, Renal hypophosphatemia ORPHA:405
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Small pituitary gland, Hypocalcemia, Chole... OMIM:619503
Charge Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, External genital hypoplas... OMIM:214800
Multiple Endocrine Neoplasia Type 1
Adrenocortical abnormality, Neoplasm of the pancreas, Pheochromocytoma, Pituitary growth hormone ... ORPHA:652
Aarskog-Scott Syndrome
Delayed puberty, Bilateral cryptorchidism, Elevated circulating follicle stimulating hormone leve... OMIM:305400
Biliary, Renal, Neurologic, And Skeletal Syndrome
Intrahepatic bile duct dilatation, Cholestasis, Biliary cirrhosis, Prolonged neonatal jaundice, S... OMIM:619534
Multiple Endocrine Neoplasia Type 2
Elevated circulating parathyroid hormone level, Cervical neoplasm, Pheochromocytoma, Thyroid C ce... ORPHA:653
Hereditary Pheochromocytoma-Paraganglioma
Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Paraganglioma of head and neck, Elevated... ORPHA:29072
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Hypokalemia, Hyperactive renin-angiotensin system, Hypochloremia, Increased ser... OMIM:601678
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia OMIM:602080
Pheochromocytoma
Pheochromocytoma, Hypercalcemia OMIM:171300
Lesch-Nyhan Syndrome
Megaloblastic anemia, Testicular atrophy, Hyperuricemia OMIM:300322
Spinal Cord Injury
Hypercalcemia ORPHA:90058
Vitamin D-Dependent Rickets, Type 2A
Secondary hyperparathyroidism, Elevated circulating parathyroid hormone level, Hypocalcemic seizu... OMIM:277440
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Small scrotum, Hypocalcemia OMIM:620330
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Precocious puberty, Hypercalcemia, Hypoparathyroidism, Hypertriglyceridemia ORPHA:369837
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia ORPHA:476126
Sarcoidosis
Abnormal liver parenchyma morphology, Enlarged lacrimal glands, Hepatomegaly, Anemia, Lymphadenop... ORPHA:797
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadism, Primary am... OMIM:157640
Tropical Endomyocardial Fibrosis
Eosinophilia, Hepatomegaly, Hypoalbuminemia, Splenomegaly ORPHA:75565
Pmm2-Cdg
Elevated circulating thyroid-stimulating hormone concentration, Abnormal liver parenchyma morphol... ORPHA:79318
Osteopetrosis, Autosomal Recessive 7
Hypocalcemic seizures, Hepatomegaly, Anemia, Splenomegaly OMIM:612301
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Williams Syndrome
Abnormal circulating lipid concentration, Cholelithiasis, Hypoplasia of penis, Elevated circulati... ORPHA:904
Steinert Myotonic Dystrophy
Decreased fertility, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Abn... ORPHA:273
X-Linked Intellectual Disability, Snyder Type
Testicular atrophy, Cryptorchidism, Hypospadias, Abnormality of the Leydig cells ORPHA:3063
Sotos Syndrome
Hypospadias, Phimosis, Hypothyroidism, Prolonged neonatal jaundice, Acute lymphoblastic leukemia,... ORPHA:821
Williams-Beuren Syndrome
Portal hypertension, Hypothyroidism, Early onset of sexual maturation, Hypercalcemia, Diabetes me... 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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