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Gene: Lrba MGI:1933162

Gene Summary

Name:

LPS-responsive beige-like anchor

Synonyms:

Lba, D3Ertd775e

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
increased circulating HDL cholesterol level	Lrba^{em1(IMPC)Wtsi}	HOM	Early adult	8.58×10^-07
increased circulating calcium level	Lrba^{em1(IMPC)Wtsi}	HOM	Early adult	2.00×10^-09
increased blood urea nitrogen level	Lrba^{em1(IMPC)Wtsi}	HOM	Early adult	1.26×10^-06
increased circulating creatinine level	Lrba^{em1(IMPC)Wtsi}	HOM	Early adult	2.65×10^-06
increased circulating alkaline phosphatase level	Lrba^{em1(IMPC)Wtsi}	HOM	Early adult	6.18×10^-09
increased circulating cholesterol level	Lrba^{em1(IMPC)Wtsi}	HOM	Early adult	4.29×10^-06
increased circulating total protein level	Lrba^{em1(IMPC)Wtsi}	HOM	Early adult	2.01×10^-06
abnormal ear position	Lrba^{em1(IMPC)Wtsi}	HOM	Early adult	6.82×10^-06
decreased circulating chloride level	Lrba^{em1(IMPC)Wtsi}	HOM	Early adult	7.75×10^-07
absent pinna reflex	Lrba^{em1(IMPC)Wtsi}	HOM	Early adult	2.84×10^-16
increased circulating amylase level	Lrba^{em1(IMPC)Wtsi}	HOM	Early adult	5.80×10^-12

Download data as: TSV XLS

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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.

Phenotype associated images not available

Human diseases caused by Lrba mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Lrba (1 diseases)
Human diseases predicted to be associated with Lrba (488 diseases)

The table below shows human diseases associated to Lrba by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Immunodeficiency, Common Variable, 8, With Autoimmunity		Atrophic gastritis, Villous atrophy, Pneumonia, Erythema nodosum, Chronic diarrhea, Recurrent pne...	OMIM:614700

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

Disease	Matching phenotypes	Source
Inflammatory Bowel Disease 3	Ulcerative colitis	OMIM:604519
Inflammatory Bowel Disease 21	Ulcerative colitis	OMIM:612354
Inflammatory Bowel Disease 29	Ulcerative colitis, Crohn's disease	OMIM:618077
Inflammatory Bowel Disease 13	Inflammation of the large intestine	OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19	Inflammation of the large intestine	OMIM:612278
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R...	OMIM:614493
Masp2 Deficiency	Recurrent pneumonia, Ulcerative colitis	OMIM:613791
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level	ORPHA:2843
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Muscle Cramps, Familial	Elevated circulating creatine kinase concentration	OMIM:158400
Cramps, Familial Adolescent	Elevated circulating creatine kinase concentration	OMIM:218050
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Diarrhea 8, Secretory Sodium, Congenital	Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium	OMIM:616868
Hemophagocytic Lymphohistiocytosis, Familial, 3	Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia	OMIM:608898
Inflammatory Bowel Disease 28, Autosomal Recessive	Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Pyoderma, Colitis, Crohn's disease	OMIM:613148
Hirschsprung Disease, Susceptibility To, 1	Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting	OMIM:142623
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Hearing impa...	OMIM:144300
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Inflammatory Bowel Disease 25, Autosomal Recessive	Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ...	OMIM:612567
Cutaneous Photosensitivity And Colitis, Lethal	Diarrhea, Colitis	OMIM:219095
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Decreased circulating total IgM...	OMIM:619281
Adamantinoma	Hypercalcemia	ORPHA:55881
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Abnormally low T cell receptor excision circle leve...	OMIM:619374
Glycogen Storage Disease Vi	Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia	OMIM:232700
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Ulcerative colitis, Bloody diarrhea	OMIM:619398
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Reduced natural killer cell activity,...	OMIM:300400
Inflammatory Bowel Disease (Crohn Disease) 30	Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, A...	OMIM:619079
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia	OMIM:300971
Congenital Disorder Of Glycosylation, Type Iip	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi...	OMIM:616829
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia	OMIM:608320
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen	OMIM:620085
Inflammatory Bowel Disease (Crohn Disease) 1	Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Inflammation of the large i...	OMIM:266600
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Hypochloremia, Hypokalemia, Hyperaldosteronism, Increased circulating renin level	OMIM:214700
Ficolin 3 Deficiency	Necrotizing enterocolitis	OMIM:613860
Enterokinase Deficiency	Hypoproteinemia	OMIM:226200
Appendicitis, Proneness To	Abnormal large intestine morphology	OMIM:107700
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia	OMIM:615863
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Immunodeficiency 20	Reduced natural killer cell count, Reduced natural killer cell activity	OMIM:615707
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Hepatosplenomegaly, Abnormal natural killer cell physiology, Decreased circulating ...	OMIM:613101
Inflammatory Bowel Disease 11	Hematochezia, Diarrhea, Inflammation of the large intestine, Abdominal pain	OMIM:191390
Distal Myopathy, Tateyama Type	Hypercholesterolemia, Abnormal circulating creatine kinase concentration	ORPHA:488650
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration	OMIM:615883
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia	OMIM:301033
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypercholesterolemia, Hyperammonemia, Increased C-peptide level	OMIM:620211
5-Oxoprolinase Deficiency	Diarrhea, Vomiting, Enterocolitis, Abdominal pain	OMIM:260005
Cholestasis, Progressive Familial Intrahepatic, 10	Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho...	OMIM:619868
Morbid Obesity And Spermatogenic Failure	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:615703
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:620058
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Sensorineural hearing impairment, Hypoproteinemia	OMIM:221400
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia	DECIPHER:16
Hyperparathyroidism 4	Hypercalcemia	OMIM:617343
Lymphoproliferative Syndrome, X-Linked, 1	Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell activity, Spleno...	OMIM:308240
Analbuminemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat...	OMIM:616000
Combined Oxidative Phosphorylation Deficiency 34	Congenital sensorineural hearing impairment, Elevated circulating creatinine concentration, Incre...	OMIM:617872
Multiple Myeloma	Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia	ORPHA:29073
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Sensorineural hearing impairment, Hypochloremia, Hypokalemia, Hyp...	OMIM:613090
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Gastroesophageal Reflux	Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis	OMIM:109350
Granulomatous Slack Skin	Hypercalcemia	ORPHA:33111
Renal Failure, Progressive, With Hypertension	Elevated circulating creatinine concentration	OMIM:161900
Hypercalcemia, Infantile, 2	Hypercalcemia, Hypophosphatemia	OMIM:616963
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia	OMIM:137280
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Sensorineural hearing impairment, Hypercalcemia	ORPHA:2668
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Hypoalbuminemia	OMIM:607250
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Hyperkalemia, Decreased circulating renin level	OMIM:614492
Glycogen Storage Disease Ixa1	Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia	OMIM:306000
Gaisböck Syndrome	Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hyperch...	ORPHA:90041
Isolated Asymptomatic Elevation Of Creatine Phosphokinase	Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration	ORPHA:206599
Visceral Myopathy 2	Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti...	OMIM:619350
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Hyperkalemia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Hyperkalemia	OMIM:614495
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Postural tremor, Elevated circulating creatine kinase concentration, Elevated circulating alpha-f...	ORPHA:64753
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Hypoproteinemia	OMIM:207731
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypercalcemia, Low-set ears	OMIM:614732
Congenital Disorder Of Glycosylation, Type Iio	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi...	OMIM:616828
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Dyst...	OMIM:616267
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Hyperkalemia	OMIM:614496
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, Re...	OMIM:615559
Interstitial Nephritis, Karyomegalic	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:614817
Hemophagocytic Syndrome Associated With An Infection	Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia	ORPHA:158048
Lipodystrophy, Congenital Generalized, Type 3	Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia	OMIM:612526
Diffuse Neonatal Hemangiomatosis	Hypercalcemia	ORPHA:2123
Uremic Pruritus	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Blue Diaper Syndrome	Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Saccharopinuria	Citrullinuria, Tremor, Hypercystinemia, Hyperammonemia, Cystinuria, Hyperlysinuria, Abnormality o...	ORPHA:3124
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Lymphangiectasia, Intestinal	Neonatal hypoproteinemia	OMIM:152800
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre...	OMIM:300539
Bartter Syndrome Type 4	Hyponatremia, Protruding ear, Hypochloremia, Hypokalemia, Hyperaldosteronism, Increased circulati...	ORPHA:89938
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hypercalcemia	OMIM:239199
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Elevated circulating creatinine concentration	OMIM:242530
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Chronic diarrhea, Atopic dermatitis, Bronchiectasis, Ulcerative colitis, Colonic eosin...	OMIM:617638
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Hypoproteinemia	ORPHA:1116
Diarrhea 6	Chronic diarrhea, Crohn's disease, Abdominal pain	OMIM:614616
2P21 Microdeletion Syndrome	Low-set, posteriorly rotated ears, Hypocalcemia, Cystinuria	ORPHA:163693
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia	ORPHA:86816
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated creatine kinase after exercise, Hypercalcemia	ORPHA:284426
Non-Functioning Paraganglioma	Conductive hearing impairment, Tremor, Pulsatile tinnitus, Hypercalcemia	ORPHA:94080
Immunodeficiency 37	Colitis, Infectious encephalitis	OMIM:616098
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, Hy...	OMIM:601678
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased serum creatinine, Hypohomocysteinemia, Tremor, Hypocystinemia	OMIM:617744
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Reduced natural killer cell activity, Splenomegaly, Anemia, Reduced natural killer ...	OMIM:616050
Hypercalcemia, Infantile, 1	Hypercalcemia	OMIM:143880
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Elevated circulating creatine kinase concentration, Tremor, Hypoalbuminemia, Dystonia, Hyperchole...	OMIM:208920
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Colitis	ORPHA:88643
Hypercholesterolemia, Familial, 3	Hypercholesterolemia, Abnormal LDL cholesterol concentration, Xanthelasma	OMIM:603776
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Tremor, Hype...	ORPHA:247585
Hypophosphatasia	Hypercalcemia	ORPHA:436
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia	OMIM:256300
Oculoskeletodental Syndrome	Hypercalcemia, Sensorineural hearing impairment, Hypocalcemia, Conductive hearing impairment, Hea...	ORPHA:557003
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Sensorineural hearing impairment, Hypochloremia, Hypokalemia, Hyp...	OMIM:602522
Nephrotic Syndrome, Type 22	Hypoproteinemia	OMIM:619155
Cholesteryl Ester Storage Disease	Hypercholesterolemia, Hypertriglyceridemia	ORPHA:75234
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Colitis, Minimal change glomerulonephritis	OMIM:617006
Drug-Induced Lupus Erythematosus	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:231111
Rhabdoid Tumor	Hypercalcemia	ORPHA:69077
Apolipoprotein C-Ii Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr...	OMIM:207750
Familial Isolated Hyperparathyroidism	Hypercalcemia, Hypophosphatemia	ORPHA:99879
Immunodeficiency 43	Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia	OMIM:241600
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hypocalcemia, Hearing impairment, Elevated circulating gamma-aminobutyric acid concentration	OMIM:619658
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Epidermolysis Bullosa Acquisita	Inflammation of the large intestine, Abdominal pain	ORPHA:46487
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Decreased circulating total IgM, Lymphocytosis	OMIM:606445
Vitamin D-Dependent Rickets, Type 3	Hypocalcemia, Hypophosphatemia	OMIM:619073
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypochloremia, Hypokalemia, Hyperaldosteronis...	OMIM:241200
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma	OMIM:144010
Lymphoproliferative Syndrome, X-Linked, 2	Acne, Recurrent skin infections, Erythema nodosum, Hepatitis, Folliculitis, Inflammation of the l...	OMIM:300635
Reticular Dysgenesis	Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl...	OMIM:267500
Pseudohypoparathyroidism Type 2	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia, Hypocalcemi...	ORPHA:94090
Refractory Celiac Disease	Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia	ORPHA:398063
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole...	OMIM:267700
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia	OMIM:145001
Morgagni-Stewart-Morel Syndrome	Hypercholesterolemia, Hyperuricemia, Action tremor	ORPHA:77296
Cerebral Creatine Deficiency Syndrome 2	Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration, Tremor	OMIM:612736
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Granulomatous Disease, Chronic, Autosomal Recessive, 3	Abdominal pain, Diarrhea, Colitis, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent ...	OMIM:613960
Nephronophthisis-Like Nephropathy 2	Elevated circulating creatinine concentration	OMIM:619468
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia	OMIM:613845
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612926
Hypoparathyroidism, Familial Isolated, 1	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hyperphosphatemia, Hypercalcemia	OMIM:617994
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612924
Immunodeficiency, Common Variable, 11	Inflammation of the large intestine, Crohn's disease, Mucoid diarrhea	OMIM:615767
Coenzyme Q10 Deficiency, Primary, 8	Elevated circulating creatinine concentration, Hearing impairment	OMIM:616733
Progressive Familial Intrahepatic Cholestasis	Hypocalcemia	ORPHA:172
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia	OMIM:603233
Pancreatic insufficiency, combined exocrine	Hypoproteinemia	OMIM:260450
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Congenital Disorder Of Glycosylation, Type Ij	Tremor, Hypoproteinemia	OMIM:608093
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia	OMIM:612089
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:617056
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612925
Glucose-Galactose Malabsorption	Hypernatremia, Hypercalcemia	ORPHA:35710
Pseudomyxoma Peritonei	Nausea and vomiting, Intestinal obstruction, Abdominal pain, Inflammation of the large intestine,...	ORPHA:26790
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hypercalcemia	OMIM:145980
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper...	OMIM:605814
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Hypercalcemia	OMIM:145981
Paternal Uniparental Disomy Of Chromosome 1	Hypercalcemia, Increased blood urea nitrogen	ORPHA:251004
Paget Disease Of Bone 2, Early-Onset	Hydroxyprolinuria, Bilateral conductive hearing impairment, Hypercalcemia	OMIM:602080
Pheochromocytoma--Islet Cell Tumor Syndrome	Hypercalcemia	OMIM:171420
Immunodeficiency 76	Chronic diarrhea, Colitis, Recurrent pneumonia	OMIM:619164
Alpha-Heavy Chain Disease	Hypocalcemia	ORPHA:100025
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Idiopathic Non-Lupus Full-House Nephropathy	Elevated circulating creatinine concentration	ORPHA:567544
Infantile Myofibromatosis	Hypercalcemia	ORPHA:2591
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Hypercholesterolemia	ORPHA:254531
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ...	ORPHA:26793
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration	OMIM:620138
Preeclampsia	Elevated circulating creatinine concentration	ORPHA:275555
Ring Chromosome 10 Syndrome	Abnormal antihelix morphology, Large earlobe, Hypocalcemia, Low-set ears	ORPHA:1438
Ménétrier Disease	Hypoproteinemia, Hypoalbuminemia	ORPHA:2494
Orthostatic Hypotension 1	Hypomagnesemia, Increased blood urea nitrogen	OMIM:223360
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Fanconi Renotubular Syndrome 3	Aminoaciduria, Elevated circulating creatinine concentration	OMIM:615605
46,Xy Sex Reversal 4	Sensorineural hearing impairment, Microtia, Elevated circulating creatinine concentration, Increa...	OMIM:154230
Immunodeficiency 70	Celiac disease, Colitis, Recurrent sinusitis, Furuncle, Achalasia	OMIM:618969
Temple Syndrome	Hypercholesterolemia, Hypertriglyceridemia, Posteriorly rotated ears	OMIM:616222
Hypophosphatasia, Infantile	Elevated plasma pyrophosphate, Hypercalcemia	OMIM:241500
Thrombotic Thrombocytopenic Purpura, Hereditary	Tremor, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:274150
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Ileal ulcer, Anterior uveitis, Colitis, Skin rash	OMIM:616744
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr...	OMIM:300291
Hyperparathyroidism, Neonatal Severe	Calcinosis, Aminoaciduria, Hypercalcemia, Hypophosphatemia	OMIM:239200
Galactokinase Deficiency	Increased level of galactitol in plasma, Hypercholesterolemia, Sensorineural hearing impairment, ...	ORPHA:79237
Coach Syndrome 2	Elevated circulating creatinine concentration	OMIM:619111
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Acne, Sterile arthritis, Arthritis, Colitis, Cystic acne	OMIM:604416
Monosomy 13Q34	Abnormal earlobe morphology, Posteriorly rotated ears, Hypercalcemia	ORPHA:96168
Thymic Neuroendocrine Tumor	Increased circulating cortisol level, Hypercalcemia	ORPHA:97289
Oculoskeletodental Syndrome	Hypercalcemia, Hypocalcemia, Hearing impairment	OMIM:618440
Osteopetrosis, Autosomal Recessive 9	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:620366
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	ORPHA:90362
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:235400
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid...	ORPHA:567548
Adenine Phosphoribosyltransferase Deficiency	Elevated circulating creatinine concentration	OMIM:614723
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Hypoalbuminemia	OMIM:616730
Linear Iga Dermatosis	Inflammation of the large intestine	ORPHA:46488
Metaphyseal Chondrodysplasia, Jansen Type	Hypercalcemia, Hearing impairment, Hypophosphatemia	OMIM:156400
Sporadic Pheochromocytoma/Secreting Paraganglioma	Conductive hearing impairment, Tremor, Pulsatile tinnitus, Hypercalcemia	ORPHA:276621
Ataxia With Vitamin E Deficiency	Hypertriglyceridemia, Increased LDL cholesterol concentration, Xanthelasma, Dystonia, Hypercholes...	OMIM:277460
Chylomicron Retention Disease	Decreased LDL cholesterol concentration, Hypoalbuminemia, Steatorrhea, Hypotriglyceridemia, Hypoc...	OMIM:246700
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati...	ORPHA:247598
Dengue Fever	Hypoproteinemia	ORPHA:99828
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypercalcemia, Hypophosphatemia	OMIM:600740
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia...	OMIM:603553
Hypotonia-Cystinuria Syndrome	Macrotia, Posteriorly rotated ears, Hypocalcemia, Cystinuria	OMIM:606407
Immunodeficiency 57 With Autoinflammation	Skin rash, Gastritis, Perianal abscess, Diarrhea, Bronchiectasis, Inflammation of the large intes...	OMIM:618108
Secondary Short Bowel Syndrome	Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys...	ORPHA:95427
Autoimmune Hypoparathyroidism	Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia, Hypocalcemic seizures	ORPHA:36913
Immunodeficiency 60 And Autoimmunity	Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Colitis, Crohn's disease	OMIM:618394
Late-Onset Isolated Acth Deficiency	Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, Hyperkalemia, Hyperuricemia	ORPHA:199299
Laron Syndrome	Hypercholesterolemia	ORPHA:633
Cholestasis, Progressive Familial Intrahepatic, 8	Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce...	OMIM:619662
Acute Adrenal Insufficiency	Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, Hyperkalemia, Increased circul...	ORPHA:95409
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hypoproteinemia, Hypocalcemia, Low-set ears	OMIM:235255
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei...	OMIM:613095
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoproteinemia, Hypoalbuminemia	OMIM:226300
Lesch-Nyhan Phenotype With Normal Hgprt	Choreoathetosis, Hyperuricemia	OMIM:308950
Congenital Disorder Of Glycosylation, Type Ih	Elevated circulating creatinine concentration, Hypoalbuminemia, Low-set ears	OMIM:608104
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Elevated circulating creatinine concentration, Hyperuricemia, Dystonia	ORPHA:79233
Hyperlipoproteinemia, Type I	Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent...	OMIM:238600
Hereditary Renal Hypouricemia	Hypouricemia, Increased blood urea nitrogen	ORPHA:94088
Smith-Magenis Syndrome	Hypercholesterolemia, Hypertriglyceridemia, Hearing impairment	OMIM:182290
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine	ORPHA:54057
C3 Glomerulopathy	Elevated circulating creatinine concentration	ORPHA:329918
Familial Hemophagocytic Lymphohistiocytosis	Reduced natural killer cell activity, Splenomegaly, Decreased circulating antibody level, Anemia,...	ORPHA:540
Nephronophthisis 2	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:602088
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Cryoglobulinemia, Familial Mixed	Elevated circulating creatinine concentration	OMIM:123550
Autosomal Recessive Kenny-Caffey Syndrome	Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures	ORPHA:93324
Pseudopseudohypoparathyroidism	Hyperphosphatemia, Hypocalcemia	ORPHA:79445
Esophagitis, Eosinophilic, 1	Vomiting, Esophagitis, Dysphagia	OMIM:610247
Esophagitis, Eosinophilic, 2	Vomiting, Esophagitis, Dysphagia	OMIM:613412
Cog4-Cdg	Hypercholesterolemia	ORPHA:263501
Leptospirosis	Hyperproteinemia	ORPHA:509
Abdominal Obesity-Metabolic Syndrome 3	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:615812
Hypouricemia, Renal, 1	Elevated circulating creatinine concentration, Hypouricemia	OMIM:220150
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hypoproteinemia, Hypocalcemia, Low-set ears	ORPHA:1655
Hereditary Pheochromocytoma-Paraganglioma	Conductive hearing impairment, Tremor, Pulsatile tinnitus, Hypercalcemia	ORPHA:29072
Hermansky-Pudlak Syndrome 2	Absent platelet dense granules, Reduced natural killer cell activity, Splenomegaly, Impaired ADP-...	OMIM:608233
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Tremor, Hypercalcemia	ORPHA:476126
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hypochloremia	ORPHA:90794
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia	Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg...	ORPHA:411696
Johanson-Blizzard Syndrome	Sensorineural hearing impairment, Hypoproteinemia	ORPHA:2315
Congenital Disorder Of Glycosylation, Type Iit	Decreased HDL cholesterol concentration, Posteriorly rotated ears, Conductive hearing impairment,...	OMIM:618885
Congenital Generalized Lipodystrophy	Hypercholesterolemia, Hypertriglyceridemia, Increased C-peptide level	ORPHA:528
Pheochromocytoma	Hypercalcemia	OMIM:171300
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Interstitial pneumonitis, Enterocolitis, Ulcerative colitis	OMIM:614878
Autosomal Dominant Hypophosphatemic Rickets	Hypocalcemia, Hypophosphatemia	ORPHA:89937
Familial Isolated Hypoparathyroidism	Hypocalcemia	ORPHA:2238
Sitosterolemia 1	Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Hypercho...	OMIM:210250
Trichohepatoenteric Syndrome 2	Villous atrophy, Diarrhea, Chronic diarrhea, Chronic hepatitis, Bloody diarrhea, Colitis	OMIM:614602
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Posteriorly rotated ears, Hyperphosphatemia, Hypocalcemia, Low-set ears, Hypocalcemic seizures	OMIM:241410
Omenn Syndrome	Hypoproteinemia	OMIM:603554
Dopamine Beta-Hydroxylase Deficiency	Elevated circulating creatinine concentration, Increased blood urea nitrogen	ORPHA:230
Relapsing Fever	Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat...	ORPHA:91547
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion	Abnormal circulating calcium concentration	ORPHA:140286
Pancreatic Lipase Deficiency	Steatorrhea, Hypocholesterolemia	OMIM:614338
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:223900
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures	ORPHA:405
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Posteriorly rotated ears, Elevated circulating creatine kinase concentration, Elevated circulatin...	OMIM:608836
Addison Disease	Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, Hyperkalemia, Increased circul...	ORPHA:85138
9Q31.1Q31.3 Microdeletion Syndrome	Hypercholesterolemia	ORPHA:401923
Genetic Recurrent Myoglobinuria	Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia	ORPHA:99845
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Low-set ears, Hypomagnesemia	OMIM:618183
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Tremor, Increased blood urea nitrogen, Macrotia, Hearing imp...	ORPHA:90321
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Hypercholesterolemia	ORPHA:96184
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Intestinal obstruction, Psoriasiform dermatitis, Jejunal atresia, Intestinal malrotation, Ileal a...	OMIM:243150
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:209902
Immunodeficiency 40	Rectal fistula, Chronic diarrhea, Recurrent pneumonia, Interstitial pneumonitis, Chronic oral can...	OMIM:616433
Neuhauser Syndrome	Large fleshy ears, Hypercholesterolemia, Cupped ear	OMIM:249310
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hypoproteinemia, Elevated circulating creatine kinase concentration	OMIM:615895
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Hypercalcemia, Low-set ears, Hearing impairment	ORPHA:369837
Spondyloarthropathy, Susceptibility To, 1	Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ...	OMIM:106300
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Chronic mucocutaneous candidiasis, ...	OMIM:209920
Multiple Endocrine Neoplasia, Type I	Increased circulating cortisol level, Hypercalcemia	OMIM:131100
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Necrotizing enterocolitis, Abdominal pain, Feeding difficulties, High palate, Vomiting	OMIM:616809
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr...	ORPHA:412
Albers-Schönberg Osteopetrosis	Hypocalcemia, Hearing impairment	ORPHA:53
Fibrous Dysplasia Of Bone	Increased circulating cortisol level, Hypercalcemia, Hearing impairment, Hypophosphatemia	ORPHA:249
Megalocornea-Intellectual Disability Syndrome	Hypercholesterolemia, Sensorineural hearing impairment, Protruding ear	ORPHA:2479
Pseudohypoparathyroidism, Type Ic	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia	OMIM:612462
Dyskeratosis Congenita, Autosomal Recessive 5	Esophageal stenosis, Colitis	OMIM:615190
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Skin rash, Abdominal pain, Perianal abscess, Diarrhea, Chronic constipation, I...	OMIM:301074
Intermediate Osteopetrosis	Hypocalcemia	ORPHA:210110
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Elevated circulating creatinine concentration	OMIM:614376
Cholesteryl Ester Storage Disease	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr...	OMIM:278000
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Diarrhea, Lymphocytic infiltratio...	ORPHA:436159
Sickle Cell Anemia	Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia	ORPHA:232
Immunodeficiency 58	Recurrent cutaneous abscess formation, Helicobacter pylori infection, Eczema, Allergic rhinitis, ...	OMIM:618131
Galloway-Mowat Syndrome 7	Hypercholesterolemia	OMIM:618348
Mandibuloacral Dysplasia	Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level	ORPHA:2457
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Villous atrophy, Pneumonia, Erythema nodosum, Chronic diarrhea, Recurrent pne...	OMIM:614700
Acute Interstitial Pneumonia	Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration	ORPHA:79126
Kenny-Caffey Syndrome, Type 1	Hypocalcemia, Hypomagnesemia	OMIM:244460
Generalized Pustular Psoriasis	Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration	ORPHA:247353
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:175500
Smith-Magenis Syndrome	Conductive hearing impairment, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:819
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia	OMIM:610644
Sanjad-Sakati Syndrome	Low-set, posteriorly rotated ears, External ear malformation, Hyperphosphatemia, Hypocalcemia	ORPHA:2323
Igg4-Related Retroperitoneal Fibrosis	Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat...	ORPHA:49041
Diffuse Alveolar Hemorrhage	Elevated circulating creatinine concentration	ORPHA:90060
Colchicine Poisoning	Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo...	ORPHA:31824
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypocalcemia, Hypophosphatemia	OMIM:600081
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration	ORPHA:79240
Pseudohypoparathyroidism Type 1B	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia, Hypocalcemi...	ORPHA:94089
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Oculogyric crisis, Tremor, Hype...	ORPHA:94093
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Aminoacid...	ORPHA:411634
Lysinuric Protein Intolerance	Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole...	ORPHA:470
Chédiak-Higashi Syndrome	Hyponatremia, Hypertriglyceridemia, Tremor, Increased circulating ferritin concentration, Hypopro...	ORPHA:167
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Generalized aminoaciduria, Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia	OMIM:264700
Aapoaiv Amyloidosis	Hyperlipidemia, Elevated circulating creatinine concentration	ORPHA:439232
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated circulating creatinine concentration, Hyperbilirubinemia	ORPHA:542323
Dahlberg-Borer-Newcomer Syndrome	Hypocalcemia	ORPHA:1563
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Viral hepatitis, Glomerulonephritis, Abdominal pain, Fulminant hepat...	ORPHA:2137
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Secretory diarrhea, Tubulointerstitial nephritis, Colitis, Vomiting, Psoriasiform derma...	ORPHA:37042
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Skin rash, Pneumonia, Lymphadenitis, Chronic diarrhea, Chron...	ORPHA:911
Timothy Syndrome	Hypocalcemia	OMIM:601005
Shigellosis	Pneumonia, Anorexia, Abdominal pain, Intestinal perforation, Myocarditis, Peritonitis, Uveitis, B...	ORPHA:810
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr...	OMIM:615558
X-Linked Agammaglobulinemia	Sensorineural hearing impairment, Hypocalcemia	ORPHA:47
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration	ORPHA:264580
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypercholesterolemia	ORPHA:90065
Ppoma	Increased circulating cortisol level, Hypercalcemia	ORPHA:97278
Pyoderma Gangrenosum	Pustule, Myositis, Rheumatoid arthritis, Inflammation of the large intestine	ORPHA:48104
Dyskeratosis Congenita, Autosomal Recessive 8	Oral leukoplakia, Pancolitis, Inflammation of the large intestine, Esophageal stricture	OMIM:620133
Somatostatinoma	Increased circulating cortisol level, Hypercalcemia, Steatorrhea	ORPHA:97283
Hypocalcemic Vitamin D-Resistant Rickets	Hypocalcemia, Hypophosphatemia	ORPHA:93160
Senior-Loken Syndrome 1	Elevated circulating creatinine concentration	OMIM:266900
Bacterial Toxic-Shock Syndrome	Hypocalcemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulatin...	ORPHA:36234
Vipoma	Hypokalemia, Increased circulating cortisol level, Hypercalcemia	ORPHA:97282
Isolated Thyroid-Stimulating Hormone Deficiency	Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia	ORPHA:90674
Isotretinoin-Like Syndrome	Aplasia/Hypoplasia of the inner ear, Microtia, Anotia, Hypocalcemia, Bilateral sensorineural hear...	ORPHA:2306
Cyclic Neutropenia	Sinusitis, Recurrent skin infections, Abdominal pain, Perianal abscess, Peritonitis, Enterocoliti...	ORPHA:2686
Sapho Syndrome	Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Abdominal pain, Pustule, Recurrent skin ...	ORPHA:793
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Abnormal circulating biopterin concentration, Oculogyric crisis, Hyperphenylalaninemia, Tremor, A...	ORPHA:1578
Hyperparathyroidism-Jaw Tumor Syndrome	Hypercalcemia, Hypophosphatemia	ORPHA:99880
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Acne, Osteomyelitis, Poor appetite, Skin rash, Arthritis, Inflammation o...	ORPHA:324964
Cholera	Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration	ORPHA:173
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Eczema, Anal fissure, Perianal abscess, Lymphadenitis, Recurrent pneumonia, U...	OMIM:618935
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:85450
Parathyroid Carcinoma	Hypercalcemia, Hypophosphatemia	ORPHA:143
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Membranous nephropathy, Atopic dermatitis, Colonic eosinophilia	OMIM:618999
Low Phospholipid-Associated Cholelithiasis	Hypercholesterolemia	ORPHA:69663
Autosomal Dominant Hypocalcemia	Writer's cramp, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:428
Osteopetrosis, Autosomal Recessive 1	Hypocalcemia, Hearing impairment	OMIM:259700
Immunodeficiency 97 With Autoinflammation	Recurrent skin infections, Eczema, Abdominal pain, Diarrhea, Enterocolitis, Colitis, Recurrent ot...	OMIM:619802
Zollinger-Ellison Syndrome	Increased circulating cortisol level, Hypercalcemia	ORPHA:913
Glucagonoma	Increased circulating cortisol level, Hypercalcemia, Steatorrhea	ORPHA:97280
Gracile Bone Dysplasia	Hypocalcemia	OMIM:602361
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Eczema, Feeding difficulties in infancy, Chronic diarrhea, Chronic mucocutaneous candidiasis, Inf...	ORPHA:98813
Grfoma	Increased circulating cortisol level, Hypercalcemia	ORPHA:97261
Hypocalcemic Vitamin D-Dependent Rickets	Generalized aminoaciduria, Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia	ORPHA:289157
Oncogenic Osteomalacia	Hypocalcemia, Hypophosphatemia	ORPHA:352540
Double Outlet Right Ventricle	Abnormality of cartilage of external ear, Hypocalcemia	ORPHA:3426
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:174000
Amoebiasis Due To Entamoeba Histolytica	Intestinal obstruction, Abdominal pain, Gastrointestinal dysmotility, Diarrhea, Bloody diarrhea, ...	ORPHA:67
Congenital Disorder Of Glycosylation, Type Ig	Sensorineural hearing impairment, Abnormal pinna morphology, Hypocalcemia	OMIM:607143
Structural Heart Defects And Renal Anomalies Syndrome	Elevated circulating creatinine concentration, Low-set ears	OMIM:617478
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo...	ORPHA:73263
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion	Hypouricemia	OMIM:307830
Multiple Endocrine Neoplasia Type 4	Increased circulating cortisol level, Hypercalcemia	ORPHA:276152
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Hypercholesterolemia, Hyperlipidemia	OMIM:248370
Oligomeganephronia	Elevated circulating creatinine concentration, Hearing impairment	ORPHA:2260
Lipodystrophy, Familial Partial, Type 2	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia	OMIM:151660
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Chronic diarrhea, Colitis, Bronchiectasis, Recurrent pneumonia	OMIM:301220
Hermansky-Pudlak Syndrome 1	Hematochezia, Inflammation of the large intestine, Colitis, Abdominal pain	OMIM:203300
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia	OMIM:127000
Immunodeficiency 47	Hypercholesterolemia, Sensorineural hearing impairment, Decreased circulating copper concentration	OMIM:300972
Pseudohypoparathyroidism Type 1C	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia, Hypocalcemi...	ORPHA:79444
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Elevated circulating creatinine concentration	ORPHA:247691
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Aminoaciduria, Hypokalemia, Hypocalcemia	OMIM:617913
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir...	ORPHA:90038
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypocalcemic tetany, Hyperaldosteronism, Hypocalcemia, Hypomagnesemia	ORPHA:73224
Multiple Endocrine Neoplasia Type 2	Hypercalcemia	ORPHA:653
Liver Disease, Severe Congenital	Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti...	OMIM:619991
Papillorenal Syndrome	Sensorineural hearing impairment, Elevated circulating creatinine concentration	OMIM:120330
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Hypocalcemia	OMIM:618476
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Hyperkalemia, Xanthelasma, Steatorrhea, Hypercholesterolemia	ORPHA:275761
Bardet-Biedl Syndrome 20	Hypercholesterolemia	OMIM:619471
Iga Pemphigus	Pustule, Neutrophilic infiltration of the skin, Ulcerative colitis, Cutaneous abscess	ORPHA:555905
Paroxysmal Nocturnal Hemoglobinuria	Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Decreased serum iron, Increased blood...	ORPHA:447
Pseudohypoparathyroidism Type 1A	Calcinosis, Sensorineural hearing impairment, Choreoathetosis, Hyperphosphatemia, Hypocalcemia, H...	ORPHA:79443
Pierson Syndrome	Hypoproteinemia	OMIM:609049
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Anorexia, Colitis, Vomiting, Intractable diarrhea, Pustular rash, Abdominal pain...	OMIM:619381
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypercholesterolemia, Hypertriglyceridemia	ORPHA:363618
Cardiogenic Shock	Elevated circulating creatinine concentration	ORPHA:97292
Autosomal Dominant Polycystic Kidney Disease	Elevated circulating creatinine concentration	ORPHA:730
Mitochondrial Trifunctional Protein Deficiency	Hypocalcemia	ORPHA:746
Pancreatic Triacylglycerol Lipase Deficiency	Abdominal pain, Abdominal distention, Diarrhea, Keratoconjunctivitis sicca, Colitis, Steatorrhea,...	ORPHA:309031
Celiac Disease, Susceptibility To, 1	Hypocalcemia, Steatorrhea	OMIM:212750
Craniofacioskeletal Syndrome	Microtia, Posteriorly rotated ears, Hypocalcemia	OMIM:300712
Williams Syndrome	Low-set, posteriorly rotated ears, Abnormal circulating lipid concentration, Hypercalcemia, Eleva...	ORPHA:904
Multiple Endocrine Neoplasia Type 1	Primary hypercortisolism, Increased circulating cortisol level, Hypercalcemia	ORPHA:652
Pseudohypoparathyroidism, Type Ia	Hypocalcemic tetany, Hyperphosphatemia	OMIM:103580
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Episodic vomiting, Necrotizing enterocolitis, Gastroesophageal reflux	OMIM:201475
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hypercholesterolemia	ORPHA:79259
Lowe Oculocerebrorenal Syndrome	Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Bi...	OMIM:309000
Hyperlipoproteinemia, Type Id	Colitis, Recurrent pancreatitis, Pancreatitis	OMIM:615947
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Skin rash, Recurrent pneumonia, Bloody diarrhea, Hematochezia, Inflammation of the large intestin...	OMIM:617718
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Microtia, Posteriorly rotated ears, Hypocalcemia, Hyperbilirubinemia	ORPHA:163979
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Low-set, posteriorly rotated ears, Hypoammonemia, Protruding ear, Hypokalemia, Amin...	ORPHA:534
Congenital Disorder Of Glycosylation, Type Iil	Inflammation of the large intestine, Chronic diarrhea, Esophageal varix	OMIM:614576
Kindler Epidermolysis Bullosa	Recurrent skin infections, Esophageal stricture, Cheilitis, Inflammation of the large intestine, ...	ORPHA:2908
Reactive Arthritis	Pericarditis, Osteomyelitis, Abdominal pain, Pustule, Diarrhea, Enthesitis, Arthritis, Inflammati...	ORPHA:29207
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Progressive sensorineural hearing impairment, Hypocalcemia, Hypocalcemic seizures	ORPHA:2237
Osteopetrosis, Autosomal Recessive 5	Hypocalcemia, Hyperbilirubinemia	OMIM:259720
Igg4-Related Thyroid Disease	Hypocalcemia	ORPHA:64744
Alport Syndrome 3A, Autosomal Dominant	Azotemia, Sensorineural hearing impairment, Hearing impairment, Hypophosphatemia	OMIM:104200
Alagille Syndrome 1	Hypercholesterolemia, Macrotia, Hypertriglyceridemia, Low-set ears	OMIM:118450
Sepsis In Premature Infants	Abdominal distention, Gastrointestinal dysmotility, Diarrhea, Enterocolitis, Functional abnormali...	ORPHA:90051
Autosomal Recessive Malignant Osteopetrosis	Tremor, Hypocalcemia, Hearing impairment, Hypophosphatemia	ORPHA:667
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circulating creatin...	ORPHA:99826
Ethylene Glycol Poisoning	Hyperkalemia, Hypocalcemia	ORPHA:31826
Infection-Related Hemolytic Uremic Syndrome	Pneumonia, Abdominal pain, Intestinal perforation, Myocarditis, Diarrhea, Pancreatitis, Secretory...	ORPHA:544482
Osteopetrosis With Renal Tubular Acidosis	Conductive hearing impairment, Hypocalcemia, Macrotia, Elevated circulating creatine kinase conce...	ORPHA:2785
Exercise-Induced Malignant Hyperthermia	Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	ORPHA:466650
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Villous atrophy, Inflammatory abnormality of the skin, Eczema, Diarrhea, Esophageal carcinoma, He...	ORPHA:391487
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Cholangitis, Eczema, Abdominal pain, Feeding difficulties i...	ORPHA:3260
Hennekam Syndrome	Conductive hearing impairment, External ear malformation, Hypocalcemia, Low-set ears	ORPHA:2136
Cartilage-Hair Hypoplasia	Low-set, posteriorly rotated ears, Macrotia, Hypocalcemia	ORPHA:175
Velocardiofacial Syndrome	Hypocalcemia	OMIM:192430
Sweet Syndrome	Predominantly dermal neutrophilic infiltrate, Myositis, Acne, Pustule, Oligoarthritis, Inflammati...	ORPHA:3243
Thymoma	Myositis, Glomerulonephritis, Ulcerative colitis, Rheumatoid arthritis, Neoplasm of the gastroint...	ORPHA:99867
Renal Cysts And Diabetes Syndrome	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:137920
Williams-Beuren Syndrome	Large earlobe, Sensorineural hearing impairment, Hypercalcemia	OMIM:194050
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula, Dysphagia, Absent uvul...	OMIM:619708
Hemorrhagic Fever-Renal Syndrome	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration	ORPHA:340
Sarcoidosis	Hypercalcemia	ORPHA:797
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Eosinophilic infiltration of the esophagus, Perianal abscess, Pancolitis, Bloody diarrhea, Anoper...	OMIM:618213
Pauci-Immune Glomerulonephritis	Elevated circulating creatinine concentration	ORPHA:93126
Juvenile Polyposis Syndrome	Hypoproteinemia, Low-set ears	ORPHA:2929
Pearson Syndrome	Hypomagnesemia, Steatorrhea, Hypokalemia, Hypocalcemia, Hypophosphatemia, Hyperalaninemia, Hearin...	ORPHA:699
Plague	Glossitis, Chapped lip, Skin rash, Anorexia, Abdominal pain, Erythema nodosum, Lymphadenitis, Hem...	ORPHA:707
Sotos Syndrome	Hypercalcemia, Tremor, Conductive hearing impairment, Cholesteatoma, Hearing impairment	ORPHA:821
Lipodystrophy, Familial Partial, Type 7	Hypercholesterolemia, Hypertriglyceridemia, Tinnitus, Low-set ears	OMIM:606721
Cocaine Intoxication	Glomerulonephritis, Abdominal pain, Intestinal perforation, Bloody diarrhea, Tubulointerstitial n...	ORPHA:90068
Cranioectodermal Dysplasia 1	Hypocalcemia, Low-set ears, Protruding ear	OMIM:218330
Gitelman Syndrome	Hypermagnesemia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Primary hyperaldosteronism, Tinnitus	ORPHA:358
Yellow Fever	Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration...	ORPHA:99829
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Granulomatous cholangitis, Ulcerative colitis, Sclerosing cholangitis, Inflammation of the large ...	ORPHA:562639
Syndromic Diarrhea	Villous atrophy, Gastritis, Hepatoblastoma, Bloody diarrhea, Colitis, Intractable diarrhea, Depen...	ORPHA:84064
Goodpasture Syndrome	Increased blood urea nitrogen	OMIM:233450
Autoimmune Lymphoproliferative Syndrome	Gastritis, Glomerulonephritis, Hepatitis, Uveitis, Thyroiditis, Arthritis, Colitis, Panniculitis,...	ORPHA:3261
Congenital Factor Xiii Deficiency	Inflammation of the large intestine, Hepatic failure	ORPHA:331
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia	OMIM:613658
Primary Sclerosing Cholangitis	Acute hepatic failure, Cholangiocarcinoma, Abnormal large intestine physiology, Abdominal pain, C...	ORPHA:171
Biliary, Renal, Neurologic, And Skeletal Syndrome	Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating...	OMIM:619534
Igg4-Related Kidney Disease	Elevated circulating creatinine concentration, Decreased retinol-binding protein level, Elevated ...	ORPHA:449395
Glycogen Storage Disease Ib	Gout, Inflammation of the large intestine, Protuberant abdomen, Hepatocellular carcinoma, Pancrea...	OMIM:232220
Autosomal Dominant Kenny-Caffey Syndrome	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures	ORPHA:93325
Wiskott-Aldrich Syndrome	Sinusitis, Eczema, Keratitis, Hematemesis, Chronic diarrhea, Hematochezia, Arthritis, Inflammatio...	ORPHA:906
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Dystonia, Posteriorly rotated ears, Hypocalcemia, Protruding ear	OMIM:620330
22Q11.2 Deletion Syndrome	Overfolded helix, Hypocalcemia, Low-set ears, Conductive hearing impairment, Small earlobe, Heari...	ORPHA:567
Tubulointerstitial Nephritis And Uveitis Syndrome	Aminoaciduria, Elevated circulating creatinine concentration, Elevated circulating C-reactive pro...	ORPHA:91500
Glycogen Storage Disease Ic	Stomatitis, Chronic pancreatitis, Gout, Inflammation of the large intestine, Hepatocellular carci...	OMIM:232240
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia	ORPHA:391665
Steinert Myotonic Dystrophy	Hypercholesterolemia	ORPHA:273
Autosomal Recessive Hypophosphatemic Rickets	Hypocalcemic tetany, Hypophosphatemic rickets, Sensorineural hearing impairment, Renal hypophosph...	ORPHA:289176
Fumarase Deficiency	Necrotizing enterocolitis, Hepatic failure, High palate	OMIM:606812
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Secretory diarrhea, Cleft palate,...	OMIM:619573
Frontometaphyseal Dysplasia 2	Feeding difficulties in infancy, Pyloric stenosis, Cleft palate, Ulcerative colitis, Gastroesopha...	OMIM:617137
T-Cell Immunodeficiency With Thymic Aplasia	Hypocalcemic tetany	ORPHA:83471
Charge Syndrome	Mixed hearing impairment, Aplasia of the semicircular canal, Sensorineural hearing impairment, Cu...	OMIM:214800
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Macrotia, Hypocalcemia, Low-set ears, Hypomagnesemia	OMIM:619503
Sarcoidosis, Susceptibility To, 1	Anorexia, Iridocyclitis, Bronchiectasis, Uveitis, Arthritis, Inflammation of the large intestine,...	OMIM:181000
Digeorge Syndrome	Hypocalcemia, Low-set ears	OMIM:188400
Turner Syndrome Due To Structural X Chromosome Anomalies	Celiac disease, High, narrow palate, Thyroiditis, Gastrointestinal angiodysplasia, Gastrointestin...	ORPHA:99413
Turner Syndrome	Celiac disease, High, narrow palate, Thyroiditis, Gastrointestinal angiodysplasia, Gastrointestin...	ORPHA:881
Mosaic Monosomy X	Celiac disease, High, narrow palate, Thyroiditis, Gastrointestinal angiodysplasia, Gastrointestin...	ORPHA:99228
Monosomy X	Celiac disease, High, narrow palate, Thyroiditis, Gastrointestinal angiodysplasia, Gastrointestin...	ORPHA:99226
Johanson-Blizzard Syndrome	Conjugated hyperbilirubinemia, Sensorineural hearing impairment, Hypocalcemia, Increased VLDL cho...	OMIM:243800
Chronic Thromboembolic Pulmonary Hypertension	Inflammation of the large intestine, Osteomyelitis	ORPHA:70591
Mowat-Wilson Syndrome	Aganglionic megacolon, Bowel incontinence, Cleft hard palate, Pyloric stenosis, Gastrointestinal ...	ORPHA:2152

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 Lrba

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 Lrba.

There are 2 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Lrba^{em1(IMPC)Wtsi}	PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Lrba^{em1(IMPC)Wtsi}	PMC6671969

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Lrba^{tm371894(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Lrba^{em1(IMPC)Wtsi}	Deletion	Mice
Lrba^{tm2e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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