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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

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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
abnormal eye morphology Lrrc8cem1(IMPC)Mbp HOM Early adult 0.00
abnormal testis morphology Lrrc8cem1(IMPC)Mbp HOM Early adult 0.00
decreased circulating calcium level Lrrc8cem1(IMPC)Mbp HOM Early adult 3.55×10-06
preweaning lethality, incomplete penetrance Lrrc8cem1(IMPC)Mbp HOM Early adult 0.00
abnormal spleen 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 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
Decreased circulating parathyroid hormone level, Hypocalcemic seizures, Hyperphosphatemia, Hypoca... OMIM:618883
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Portal fibrosis, Increased total bilirubin, Splenomegaly, Increased serum bile a... OMIM:619868
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia, Pseudohypoparathyroidism, Elevated circulating parathyroid hormo... OMIM:203330
Pseudohypoparathyroidism Type 2
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Hypocalce... ORPHA:94090
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circulating gamma-aminobutyric acid concent... OMIM:619658
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Hypocalcemia, Hypertriglyceridemia, Hepatic steatosis, Splenomegaly, Hypercho... OMIM:612526
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Parathyroid agenesis, Congenital hypoparathyroid... ORPHA:2239
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Splenomegaly, Hypocalcemia, Hepatomegaly, Jaundice ORPHA:172
Alpha-Heavy Chain Disease
Splenomegaly, Hypocalcemia, Anemia, Lymphadenopathy, Hepatomegaly ORPHA:100025
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Elevated haptoglobin level, Intestinal lymphangiectasia, Abnormal circulating cr... OMIM:620632
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Increased circulating creatine kinase MM isoform, Hypermethioninemia, Decreased ... 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
Hyperphosphatemia, Hypocalcemia, Hypoparathyroidism, Hypocalcemic seizures, Decreased circulating... OMIM:146200
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Congenital hypothyroidism ORPHA:88643
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia, Pseudohypoparathyroidism, Elevated circulating parathyroid hormo... OMIM:603233
Immunodeficiency 27A
Hypoalbuminemia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis,... OMIM:209950
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
2P21 Microdeletion Syndrome
Hypogonadism, Hypocalcemia ORPHA:163693
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Elevated circulating parathyroid hormone level, Hypocalcemia OMIM:619073
Refractory Celiac Disease
Hypoalbuminemia, Normocytic anemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology... ORPHA:398063
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Nephrotic Syndrome, Type 7
Hypoalbuminemia, Hemolytic anemia, Thrombocytopenia OMIM:615008
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal... OMIM:308240
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Reduced natural killer cell count, Increased circulating ferritin concentration,... OMIM:616050
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Microcytic anemia, Hypopituitarism, Hepatosplenomegaly, Hepatic steatosis, Hypot... OMIM:619013
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Cholestasis, Elevated circulating creatinine concentration, Decreased circulatin... OMIM:608104
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat... OMIM:616000
Hepatoportal Sclerosis
Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of t... ORPHA:64743
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Decreased circulating parathyroid h... OMIM:601198
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... OMIM:267700
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia OMIM:620152
Leishmaniasis
Hypoalbuminemia, Pancytopenia, Leukopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, ... ORPHA:507
Hyperparathyroidism 1
Hypercalcemia, Primary hyperparathyroidism OMIM:145000
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,... OMIM:618528
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Anemia, Hyperlipidemia OMIM:603278
Alg6-Cdg
Hypoalbuminemia, Puberty and gonadal disorders, Abnormality of the liver, Decreased LDL cholester... ORPHA:79320
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Pseudohypoparathyroidism, Type Ic
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Elevated circulating thyroid-s... OMIM:612462
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Immunodeficiency 32B
Hypoalbuminemia, Impaired oxidative burst, Splenomegaly, Anemia, Eosinophilia, Monocytopenia, Thr... OMIM:226990
Reni Syndrome
Hypoalbuminemia, Hypogonadism, Lymphopenia, Adrenal insufficiency, Cryptorchidism, Hypothyroidism... OMIM:617575
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Microcytic anemia, Hepatic steatosis, Pancreatitis, Hepatomegaly OMIM:618805
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Peritoneal effusion, Hypomagnesemia, Intestinal lymphangiectasia, Lymphopenia, H... ORPHA:90362
Parathyroid Carcinoma
Hyperparathyroidism, Hypercalcemia, Parathyroid carcinoma OMIM:608266
Spondyloepiphyseal Dysplasia, Nishimura Type
Hyperphosphatemia, Hypocalcemia, Elevated circulating parathyroid hormone level OMIM:618618
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Congenital hypoparathyroidism, Hypocalcemic seizures, Hypocalcemia ORPHA:93324
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Macrophage Activation Syndrome
Hypoalbuminemia, Hemophagocytosis, Hepatitis, Increased circulating ferritin concentration, Splen... ORPHA:158061
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Abnormality of the uterus, Pancreatic lymphangiectasis, Hepatosplenomegaly, Hypocalcemia, Cryptor... ORPHA:1655
Kennedy Disease
Abnormal circulating lipid concentration, Type II diabetes mellitus, Decreased fertility, Testicu... ORPHA:481
Oculoskeletodental Syndrome
Hypocalcemia, Cryptorchidism, Splenomegaly, Hypothyroidism, Hepatomegaly, Hypercalcemia OMIM:618440
Hyperparathyroidism 4
Hypercalcemia, Parathyroid carcinoma, Primary hyperparathyroidism OMIM:617343
Gracile Bone Dysplasia
Micropenis, Asplenia, Hypoplastic spleen, Hypocalcemia OMIM:602361
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hyperphosphatemia, Decreased response to growth hormone stimulation test, Hypocalcemia, Cryptorch... OMIM:241410
Chylomicron Retention Disease
Hypoalbuminemia, Hypocholesterolemia, Decreased LDL cholesterol concentration, Hypotriglyceridemia OMIM:246700
Autoimmune Hypoparathyroidism
Hyperphosphatemia, Hypocalcemic tetany, Autoimmune hypoparathyroidism, Hypocalcemia, Hypocalcemic... ORPHA:36913
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Hemophagocytosis, Increased total bilirubin, Increased circulating ferritin conc... OMIM:603553
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Isolated Splenogonadal Fusion
Abnormal penis morphology, Testicular mass, Polysplenia, Bilateral cryptorchidism, Abnormal scrot... ORPHA:457083
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Decreased response to growth hormone stimulation test, Hypercalcemia, Cryptorchidism, Adrenal hyp... OMIM:614732
Mpi-Cdg
Hypoalbuminemia, Hepatic fibrosis, Portal hypertension, Hypothyroidism, Hyperinsulinemic hypoglyc... ORPHA:79319
Pseudohypoparathyroidism Type 1B
Pituitary resistance to thyroid hormone, Hyperphosphatemia, Elevated circulating parathyroid horm... ORPHA:94089
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating protein concentration, Abnormal circulating polysaccharide ... ORPHA:103910
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pancreatic lymphangiectasis, Hypocalcemia, Cryptorchidism, Splenomegaly, Thyroid lymphangiectasia... OMIM:235255
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... ORPHA:52901
Galloway-Mowat Syndrome 6
Hypoalbuminemia, Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:618347
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Elevated circulating thyroid-stimulating hormone concentration, Hypomagnesemia, ... OMIM:618183
Hypotonia-Cystinuria Syndrome
Decreased response to growth hormone stimulation test, Hypocalcemia, Hypergonadotropic hypogonadism OMIM:606407
Diffuse Neonatal Hemangiomatosis
Abnormal vagina morphology, Anemia, Thrombocytopenia, Hepatomegaly, Hypercalcemia ORPHA:2123
Adamantinoma
Hypercalcemia ORPHA:55881
Familial Isolated Hypoparathyroidism
Hypoparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Hypo... ORPHA:2238
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Granulomatous Slack Skin
Hypercalcemia, Abnormal lymph node morphology ORPHA:33111
Immunodeficiency 43
Hypoalbuminemia, Reduced natural killer cell count, Decreased circulating beta-2-microglobulin le... OMIM:241600
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Thymic Neuroendocrine Tumor
Mediastinal lymphadenopathy, Pituitary adenoma, Increased circulating cortisol level, Pituitary p... ORPHA:97289
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
X-Linked Agammaglobulinemia
Hepatitis, Hypocalcemia, Abnormality of the lymphatic system, Abnormality of the tonsils, Neutrop... ORPHA:47
Wolcott-Rallison Syndrome
Hypoalbuminemia, Neonatal insulin-dependent diabetes mellitus, Central hypothyroidism, Exocrine p... ORPHA:1667
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility, Elevated circulating creatine kinase concentration OMIM:313200
Citrullinemia Type Ii
Hypoalbuminemia, Hepatic fibrosis, Decreased HDL cholesterol concentration, Delayed menarche, Hyp... ORPHA:247585
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Cholestasis, Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemia, Hepa... ORPHA:247598
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Anemia, Hyperparathyroidism, Hypercalcemia ORPHA:2668
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Kenny-Caffey Syndrome, Type 1
Anemia, Congenital hypoparathyroidism, Hypocalcemia, Hypomagnesemia OMIM:244460
Igg4-Related Thyroid Disease
Graves disease, Retroperitoneal fibrosis, Euthyroid goiter, Goiter, Sialadenitis, Hypocalcemia, S... ORPHA:64744
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Hepatic fibrosis, Cirrhosis, Hyperinsulinemic hypoglycemia, Lymphangiectasis, He... OMIM:602579
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Intestinal lymphangiectasia, Anemia, Hypothyroidism, Iron deficiency anemia, Thr... OMIM:226300
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Hypoalbuminemia, Increased serum bile acid concentration, Cirrhosis, Decreased circulating cerulo... OMIM:242150
Hyperparathyroidism 2 With Jaw Tumors
Hyperparathyroidism, Hurthle cell thyroid adenoma, Parathyroid carcinoma, Pancreatic adenocarcino... OMIM:145001
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Cholestatic liver disease, Hemophagocytosis, Increased circulating ferritin conc... ORPHA:540
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia, Iron deficiency anemia ORPHA:89937
Generalized Pustular Psoriasis
Hypoalbuminemia, Lymphopenia, Leukocytosis, Hypocalcemia, Hyponatremia, Elevated circulating C-re... ORPHA:247353
Hemochromatosis, Type 1
Increased circulating iron concentration, Increased circulating ferritin concentration, Azoosperm... OMIM:235200
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypoalbuminemia, Type I diabetes mellitus, Hepatitis, Hypomagnesemia, Hypocalcemia, Autoimmune he... ORPHA:37042
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hyperlipidemia, Hypothyroidism, Hypoproteinemia OMIM:256300
Sanjad-Sakati Syndrome
Hyperphosphatemia, Hypocalcemia, Cryptorchidism, Congenital hypoparathyroidism, Hypoparathyroidis... ORPHA:2323
Eosinophilic Gastroenteritis
Hypoalbuminemia, Leukocytosis, Eosinophilia, Anemia, Elevated circulating C-reactive protein conc... ORPHA:2070
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Periportal fibrosis, Micronodular cirrh... OMIM:251880
Albers-Schönberg Osteopetrosis
Anemia, Hypocalcemia, Abnormal leukocyte morphology 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, Splenomegaly, Hepatomegaly OMIM:608776
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic a... OMIM:617021
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia ORPHA:557003
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Anemia, Hypocalcemia, Hypomagnesemia OMIM:175500
Dahlberg-Borer-Newcomer Syndrome
Hypoparathyroidism, Hypothyroidism, Hypocalcemia ORPHA:1563
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Elevated circulating parathyroid hormone level, Hypocalcemia, Hypophosphatemia, Hypocalcemic seiz... OMIM:264700
Congenital Disorder Of Glycosylation, Type Ig
Small scrotum, Hypocalcemia, Cryptorchidism, Micropenis, Hypospadias OMIM:607143
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Hypocalcemic Vitamin D-Dependent Rickets
Hypochromic anemia, Elevated circulating parathyroid hormone level, Leukocytosis, Hypocalcemia, S... ORPHA:289157
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia, Microvesicular hepatic steatosis, Hepatomegaly, Jaundice, Ma... OMIM:613070
S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Hypermethioninemia, Abnormal circulating homocysteine concentration, Abnormality... ORPHA:88618
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Splenomegaly, Hypocalcemia, Anemia, Thrombocytopenia, Hepatomegaly OMIM:259700
Congenital Enterovirus Infection
Hypoalbuminemia, Hepatitis, Cholestasis, Leukopenia, Leukocytosis, Hyperammonemia, Abnormal macro... ORPHA:292
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Abnormal circulating lipid concentration, Peritonitis, Hypercholesterolemia, Hyp... ORPHA:567548
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice, Hemolytic anemia, Hype... ORPHA:529808
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Bone marrow hypocellularity, Leukocytosis, Anemia of inadequate... ORPHA:86839
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice, Hemolytic anemia, Hype... ORPHA:529799
Timothy Syndrome
Hypothyroidism, Hypocalcemia OMIM:601005
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia, Hepatosplenomegaly, Portal hypertension, Cirrhosis, Hepatomegaly ORPHA:367
Colchicine Poisoning
Hypomagnesemia, Leukocytosis, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal... ORPHA:31824
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase ORPHA:99845
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Hepatosplenomegaly, Hyperbilirubinemia, Pancytopenia, Hypocalcemia,... OMIM:259720
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Hepatic steatosis, Hyperammonemia, D... OMIM:617093
Hypocalciuric Hypercalcemia, Familial, Type I
Hyperparathyroidism, Hypermagnesemia, Pancreatitis, Parathyroid adenoma, Hypercalcemia OMIM:145980
Rhabdoid Tumor
Neoplasm of the liver, Lymphadenopathy, Thrombocytopenia, Anemia, Hypercalcemia ORPHA:69077
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Avian Influenza
Hypoalbuminemia, Hepatitis, Lymphopenia, Leukopenia, Elevated circulating creatine kinase concent... ORPHA:454836
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Hepatic fibrosis, Acute pancreatitis, Hepatosplenomegaly, Portal hypertension, H... OMIM:619487
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat... ORPHA:64753
Pseudohypoparathyroidism Type 1C
Pituitary resistance to thyroid hormone, Hyperphosphatemia, Elevated circulating parathyroid horm... ORPHA:79444
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Peritonitis ORPHA:656
Hypocalcemic Vitamin D-Resistant Rickets
Hyperparathyroidism, Hypophosphatemia, Hypocalcemia ORPHA:93160
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Hyperammonemia, Hypocalcemia, Elevated circulating c... ORPHA:26793
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hyperparathyroidism, Hypercalcemia OMIM:239199
Ménétrier Disease
Hypoalbuminemia, Hypoproteinemia, Hypochromic microcytic anemia ORPHA:2494
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Hypocalcemia OMIM:600081
Trichohepatoenteric Syndrome 1
Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Hepatic fibrosis, ... OMIM:222470
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Double Outlet Right Ventricle
Hypoparathyroidism, Hypocalcemia, Aplasia/Hypoplasia of the thymus ORPHA:3426
Pearson Syndrome
Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Hepatomegaly, Hypoparathyroidism,... ORPHA:699
Blue Diaper Syndrome
Decreased circulating T4 concentration, Hypercalcemia, Hyperphosphatemia, Elevated circulating th... ORPHA:94086
Insulin-Resistance Syndrome Type B
Hypoalbuminemia, Hypotriglyceridemia, Biliary cirrhosis, Abnormal circulating leptin concentratio... ORPHA:2298
Familial Isolated Hyperparathyroidism
Elevated circulating parathyroid hormone level, Hypophosphatemia, Parathyroid adenoma, Hypercalce... ORPHA:99879
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Hepatitis, Elevated circulating creatinine concentration, Hypocalcemia, Elevated... ORPHA:36234
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia, Bone marrow hypocellularity, Leukopenia, Splenomegaly, Hepatomegaly, Neutropenia... OMIM:617303
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Parathyroid hypoplasia, Uterus didelphys, Septate vagina, Hypocalcemia, Aplasia of the uterus, Va... ORPHA:2237
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia, Intestinal lymphangiectasia, Cryptorchidism, Thyroid lymphangiectasia, Pulmonary... OMIM:235510
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Kenny-Caffey Syndrome, Type 2
Hyperphosphatemia, Hypocalcemia, Anemia, Transient hypophosphatemia, Hypoparathyroidism OMIM:127000
Congenital Analbuminemia
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin ORPHA:86816
Symptomatic Form Of Hfe-Related Hemochromatosis
Increased circulating ferritin concentration, Decreased serum testosterone concentration, Inferti... ORPHA:465508
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hypomagnesemia, Leukocytosis, Hypocalcemia, Hyperuricemia, Elevated circulatin... ORPHA:94093
Celiac Disease, Susceptibility To, 1
Type I diabetes mellitus, Hypocalcemia, Macrocytic anemia, Iron deficiency anemia, Delayed pubert... OMIM:212750
Primary Biliary Cholangitis
Hypoalbuminemia, Hepatic fibrosis, Biliary cirrhosis, Hepatitis, Abnormal circulating lipid conce... ORPHA:186
Pseudohypoparathyroidism, Type Ia
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypogonadism, Hypocalcemic tet... OMIM:103580
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Pancreatitis, Hypercalcemia, Primary hyperparathyroidism OMIM:145981
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Hepatic fibrosis, Hypocholesterolemia, Hepatic steatosis, Hypothyroidism, Thromb... OMIM:212065
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Cholestasis, Hypocalcemia, Diffuse hepatic steatosis ORPHA:746
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Hypothalami... OMIM:308700
Al Amyloidosis
Hypoalbuminemia, Howell-Jolly bodies, Abnormality of the liver, Anemia, Increased circulating NT-... ORPHA:85443
Pseudohypoparathyroidism Type 1A
Pituitary resistance to thyroid hormone, Hyperphosphatemia, Elevated circulating parathyroid horm... ORPHA:79443
Hypophosphatemic Rickets And Hyperparathyroidism
Hyperparathyroidism, Elevated circulating parathyroid hormone level, Hypophosphatemic rickets, Pa... OMIM:612089
Alg12-Cdg
Hypoalbuminemia, Hypocholesterolemia, Cryptorchidism, Hyponatremia, Decreased serum insulin-like ... ORPHA:79324
Phoar2-Enteropathy Syndrome
Hypoalbuminemia OMIM:614441
Hyperparathyroidism, Neonatal Severe
Elevated circulating parathyroid hormone level, Splenomegaly, Anemia, Hypophosphatemia, Calcinosi... OMIM:239200
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:276152
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Hypoalbuminemia, Decreased circulating iron concentration, Decreased circulating carnitine concen... ORPHA:89842
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Cholestasis, Hyperbilirubinemia, Microvesicular hepatic stea... OMIM:617156
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Macrovesicular hepatic steatosis, Hyperalaninemia, Bile duct proliferation OMIM:618329
Primary Sclerosing Cholangitis
Hypoalbuminemia, Hepatic fibrosis, Type I diabetes mellitus, Cholelithiasis, Hepatitis, Cholestas... ORPHA:171
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperbilirubinemia, Absent gallbladder, Hypocalcemia, Cryptorchidism, Anemia, Thrombocytopenia, M... ORPHA:163979
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona... OMIM:308750
Cholera
Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia ORPHA:173
Abetalipoproteinemia
Hypoalbuminemia, Hepatic fibrosis, Hypotriglyceridemia, Hypocholesterolemia, Abnormal circulating... ORPHA:14
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Splenomegaly, Hypocalcemia, Hypokalemia, Hyponatremia, Calcinosis OMIM:617913
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hydrocele testis, Hyperlipidemia ORPHA:567546
Hypercalcemia, Infantile, 1
Decreased circulating parathyroid hormone level, Hypercalcemia OMIM:143880
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypoalbuminemia, Hypernatremia, Reduced circulating growth hormone concentration OMIM:615508
Wilson Disease
Hypouricemia, Hypoalbuminemia, Portal fibrosis, Hemolytic anemia, Hyperbilirubinemia, Hepatic ste... OMIM:277900
Juvenile Nephropathic Cystinosis
Hypouricemia, Elevated circulating creatinine concentration, Hypocalcemic tetany, Hypocalcemia, H... ORPHA:411634
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Liver Disease, Severe Congenital
Portal inflammation, Hyperbilirubinemia, Hepatic steatosis, Abnormal hepatic echogenicity, Hepato... OMIM:619991
Craniofacioskeletal Syndrome
Hypospadias, Absent gallbladder, Hypocalcemia, Cryptorchidism OMIM:300712
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypomagnesemia, Hyperaldosteronism, Hypocalcemic tetany, Hypocalcemia, Hepatic calcification ORPHA:73224
Addison Disease
Adrenal calcification, Hypoparathyroidism, Premature ovarian insufficiency, Hyperkalemia, Thymoma... ORPHA:85138
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Small scrotum, Cholestasis, Pancytopenia, Portal hypertension, Hypocalcemia, Hep... OMIM:613658
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia, Anemia, Leukocytosis, Liver abscess ORPHA:67
Hypophosphatasia
Anemia, Hypercalcemia ORPHA:436
Juvenile Polyposis Syndrome
Hypoalbuminemia, Anemia, Hypokalemia OMIM:174900
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Type I diabetes mellitus, Pituitary adenoma, Graves disease, Adrenocorticotrop... ORPHA:199299
Velocardiofacial Syndrome
Hypoparathyroidism, Hypocalcemia, Cryptorchidism 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
Dyskeratosis Congenita, Autosomal Recessive 2
Bone marrow hypocellularity, Pancytopenia, Cirrhosis, Thrombocytopenia, Testicular atrophy OMIM:613987
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Marburg Hemorrhagic Fever
Hypoalbuminemia, Neutrophilia in presence of infection, Elevated circulating creatinine concentra... ORPHA:99826
Multiple Endocrine Neoplasia, Type I
Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cel... OMIM:131100
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypophosphatemia, Pancreatitis, Hypercalcemia, Primary hyperparathyroidism OMIM:600740
Osteopetrosis With Renal Tubular Acidosis
Bone marrow hypocellularity, Pancytopenia, Leukopenia, Hypocalcemia, Elevated circulating creatin... ORPHA:2785
Autosomal Dominant Hypocalcemia
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:428
Autosomal Dominant Kenny-Caffey Syndrome
Hyperphosphatemia, Hypocalcemic tetany, Decreased testicular size, Abnormal circulating follicle-... ORPHA:93325
Gitelman Syndrome
Hypermagnesemia, Type I diabetes mellitus, Graves disease, Hypomagnesemia, Type II diabetes melli... ORPHA:358
Non-Functioning Paraganglioma
Hypercalcemia, Paraganglioma, Paraganglioma of head and neck ORPHA:94080
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Anemia, Hypercalcemia, Stillbirth OMIM:241500
Immunodeficiency 82 With Systemic Inflammation
Hypoalbuminemia, Reduced natural killer cell count, Anoperineal fistula, Hepatitis, Decreased pro... OMIM:619381
T-Cell Immunodeficiency With Thymic Aplasia
Hypocalcemic tetany, Decreased proportion of naive T cells, Aplasia of the thymus, Hypothyroidism... ORPHA:83471
Hennekam Syndrome
Lymphopenia, Hypocalcemia, Splenomegaly, Lymphadenopathy, Pulmonary lymphangiectasia, Lymphangioma ORPHA:2136
Infantile Myofibromatosis
Hypercalcemia, Neoplasm of the pancreas ORPHA:2591
Smith-Lemli-Opitz Syndrome
Hypoalbuminemia, Precocious puberty, Small scrotum, Cholestatic liver disease, Bifid scrotum, Hyp... OMIM:270400
Xfe Progeroid Syndrome
Hypoalbuminemia, Premature ovarian insufficiency OMIM:610965
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Secondary hyperaldosteronism, Reduced circulating transferrin concentration, Hyp... ORPHA:90363
Vipoma
Follicular thyroid carcinoma, Increased circulating cortisol level, Increased circulating prolact... ORPHA:97282
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Elevated creatine kinase after exercise ORPHA:284426
Bone Marrow Failure Syndrome 5
Hypogonadism, Erythroid hypoplasia, Anemia, Testicular atrophy, Pure red cell aplasia OMIM:618165
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia, Bone marrow hypocellularity, Hepatosplenomegaly, Leukopenia, Thrombocytopenia, A... ORPHA:505248
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Hypoalbuminemia, Thrombocytopenia, Normochromic anemia OMIM:254900
Cartilage-Hair Hypoplasia
Hypocalcemia, Anemia, Neutropenia, Hepatomegaly, Abnormality of the pancreas ORPHA:175
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Parathyroid hyperplasia, Hypercalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormo... OMIM:617994
Pheochromocytoma--Islet Cell Tumor Syndrome
Pheochromocytoma, Hypercalcemia OMIM:171420
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
22Q11.2 Deletion Syndrome
Cholelithiasis, Abnormality of the uterus, Hypocalcemia, Cryptorchidism, Splenomegaly, Hypoplasia... ORPHA:567
Infection-Related Hemolytic Uremic Syndrome
Leukocytosis, Hypocalcemia, Hyponatremia, Pancreatitis, Thrombocytopenia, Hyperkalemia, Hemolytic... ORPHA:544482
Acute Adrenal Insufficiency
Normocytic anemia, Androgen insufficiency, Increased circulating ACTH level, Primary adrenal insu... ORPHA:95409
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hyperparathyroidism, Hypercalcemia, Hyperphosphatemia, Calcinosis OMIM:211900
Autosomal Recessive Malignant Osteopetrosis
Hypocalcemia, Splenomegaly, Anemia, Hypophosphatemia, Lymphadenopathy, Hepatomegaly ORPHA:667
Ppoma
Intrahepatic cholestasis, Cholelithiasis, Intestinal carcinoid, Pituitary adenoma, Increased circ... ORPHA:97278
Juvenile Polyposis Of Infancy
Hypoalbuminemia, Anemia, Refractory anemia, Freckled genitalia ORPHA:79076
Hypomagnesemia 3, Renal
Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Elevated circ... OMIM:248250
Somatostatinoma
Intrahepatic cholestasis, Pituitary adenoma, Increased circulating cortisol level, Increased circ... ORPHA:97283
Grfoma
Intrahepatic cholestasis, Cholelithiasis, Intestinal carcinoid, Pituitary adenoma, Increased circ... ORPHA:97261
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia ORPHA:31826
Digeorge Syndrome
Cholelithiasis, Parathyroid hypoplasia, Hypocalcemia, Ovarian cyst, Hepatic steatosis, Splenomega... OMIM:188400
Zollinger-Ellison Syndrome
Hyperparathyroidism, Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pi... ORPHA:913
Galloway-Mowat Syndrome 3
Hypoalbuminemia OMIM:617729
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Hyperparathyroidism-Jaw Tumor Syndrome
Elevated circulating parathyroid hormone level, Pancreatic adenocarcinoma, Abnormal parathyroid m... ORPHA:99880
Paternal Uniparental Disomy Of Chromosome 1
Delayed puberty, Hypercalcemia, Increased blood urea nitrogen, Episodic hemolytic anemia ORPHA:251004
Johanson-Blizzard Syndrome
Hypospadias, Clitoral hypertrophy, Intrahepatic cholestasis, Hepatic fibrosis, Exocrine pancreati... OMIM:243800
Multiple Myeloma
Elevated circulating creatinine concentration, Splenomegaly, Lymphadenopathy, Anemia, Hyperprotei... ORPHA:29073
Fibrous Dysplasia Of Bone
Precocious puberty in females, Increased circulating cortisol level, Thyroid carcinoma, Ovarian c... ORPHA:249
Parathyroid Carcinoma
Elevated circulating parathyroid hormone level, Parathyroid carcinoma, Pancreatic adenocarcinoma,... ORPHA:143
Galloway-Mowat Syndrome 1
Hypoalbuminemia OMIM:251300
Metaphyseal Chondrodysplasia, Jansen Type
Hypoparathyroidism, Hypophosphatemia, Hypercalcemia OMIM:156400
Kawasaki Disease
Hypoalbuminemia, Hepatitis, Cervical lymphadenopathy, Leukocytosis, Cholecystitis, Thrombocytosis... ORPHA:2331
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia ORPHA:35710
Exercise-Induced Malignant Hyperthermia
Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Thrombocytop... ORPHA:466650
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Cranioectodermal Dysplasia 1
Malformation of the hepatic ductal plate, Hepatic fibrosis, Hypocalcemia, Hepatic cysts, Hepatome... OMIM:218330
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia, Anemia ORPHA:79396
Wolfram Syndrome 1
Sideroblastic anemia, Hypothyroidism, Megaloblastic anemia, Thrombocytopenia, Testicular atrophy,... OMIM:222300
Glucagonoma
Intrahepatic cholestasis, Pituitary adenoma, Increased circulating cortisol level, Increased circ... ORPHA:97280
Sporadic Pheochromocytoma/Secreting Paraganglioma
Adrenal pheochromocytoma, Paraganglioma, Paraganglioma of head and neck, Hypercalcemia, Extraadre... ORPHA:276621
Monosomy 13Q34
Hepatic steatosis, Hypercalcemia, Metrorrhagia ORPHA:96168
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypermagnesemia, Pancreatitis, Hypocalcemic seizures, Hypercalcemia ORPHA:405
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Small pituitary gland, Hypomagnesemia, Decreased response to growth hormone stimulation test, Cho... OMIM:619503
Charge Syndrome
Parathyroid hypoplasia, Aplasia/Hypoplasia of the thymus, Decreased response to growth hormone st... OMIM:214800
Multiple Endocrine Neoplasia Type 1
Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma... ORPHA:652
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Decreased serum testost... OMIM:305400
Biliary, Renal, Neurologic, And Skeletal Syndrome
Cholestasis, Hyperbilirubinemia, Congenital hepatic fibrosis, Neonatal death, Cirrhosis, Anterior... OMIM:619534
Multiple Endocrine Neoplasia Type 2
Thyroid C cell hyperplasia, Elevated circulating calcitonin concentration, Elevated circulating p... ORPHA:653
Hereditary Pheochromocytoma-Paraganglioma
Adrenal pheochromocytoma, Paraganglioma, Paraganglioma of head and neck, Elevated circulating cal... ORPHA:29072
Bartter Syndrome, Type 1, Antenatal
Hyperparathyroidism, Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hyperald... OMIM:601678
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia OMIM:602080
Pheochromocytoma
Pheochromocytoma, Hypercalcemia OMIM:171300
Lesch-Nyhan Syndrome
Testicular atrophy, Megaloblastic anemia, Hyperuricemia OMIM:300322
Spinal Cord Injury
Hypercalcemia ORPHA:90058
Vitamin D-Dependent Rickets, Type 2A
Hypocalcemic seizures, Hypophosphatemia, Elevated circulating parathyroid hormone level, Secondar... OMIM:277440
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Small scrotum, Hypocalcemia OMIM:620330
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Hypercalcemia, Precocious puberty, Hypertriglyceridemia ORPHA:369837
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia ORPHA:476126
Sarcoidosis
Enlarged lacrimal glands, Parotitis, Abnormal lymph node morphology, Hemolytic anemia, Leukopenia... ORPHA:797
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Secondary amenorrhea, Hy... OMIM:157640
Tropical Endomyocardial Fibrosis
Hypoalbuminemia, Hepatomegaly, Eosinophilia, Splenomegaly ORPHA:75565
Pmm2-Cdg
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating thyroid-stimulating hormone concentration... ORPHA:79318
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Anemia, Hypocalcemic seizures, Splenomegaly OMIM:612301
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Williams Syndrome
Precocious puberty, Cholelithiasis, Abnormal circulating lipid concentration, Type II diabetes me... ORPHA:904
Steinert Myotonic Dystrophy
Male hypogonadism, Cholelithiasis, Impotence, Decreased response to growth hormone stimulation te... ORPHA:273
X-Linked Intellectual Disability, Snyder Type
Testicular atrophy, Abnormality of the Leydig cells, Hypospadias, Cryptorchidism ORPHA:3063
Sotos Syndrome
Hypercalcemia, Decreased fertility, Cryptorchidism, Phimosis, Acute lymphoblastic leukemia, Hypot... ORPHA:821
Williams-Beuren Syndrome
Early onset of sexual maturation, Portal hypertension, Hypothyroidism, Micropenis, Hypercalcemia,... 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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