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 cholesterol level	Lrba^{em1(IMPC)Wtsi}	HOM	Early adult	4.29×10^-06
absent pinna reflex	Lrba^{em1(IMPC)Wtsi}	HOM	Early adult	2.84×10^-16
increased circulating alkaline phosphatase level	Lrba^{em1(IMPC)Wtsi}	HOM	Early adult	6.18×10^-09
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
increased circulating total protein level	Lrba^{em1(IMPC)Wtsi}	HOM	Early adult	2.01×10^-06
increased circulating creatinine level	Lrba^{em1(IMPC)Wtsi}	HOM	Early adult	2.65×10^-06
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 amylase level	Lrba^{em1(IMPC)Wtsi}	HOM	Early adult	5.80×10^-12

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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 (483 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		Recurrent otitis media, Colitis, Conjunctivitis, Atrophic gastritis, Inflammation of the large in...	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	Crohn's disease, Ulcerative colitis	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
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi...	ORPHA:79506
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia, Defective T cell proliferation, R...	OMIM:614493
Masp2 Deficiency	Recurrent pneumonia, Ulcerative colitis	OMIM:613791
Hypertriglyceridemia 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia	OMIM:619324
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level	ORPHA:2843
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia	OMIM:608320
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Enterocolitis	Ulcerative colitis, Abdominal distention, Enterocolitis, Hematochezia	OMIM:226150
Muscle Cramps, Familial	Elevated circulating creatine kinase concentration	OMIM:158400
Isolated Asymptomatic Elevation Of Creatine Phosphokinase	Elevated circulating creatine kinase concentration	ORPHA:206599
Cramps, Familial Adolescent	Elevated circulating creatine kinase concentration	OMIM:218050
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Diarrhea 8, Secretory Sodium, Congenital	Secretory diarrhea, Abdominal distention, Inflammation of the large intestine, Elevated fecal sodium	OMIM:616868
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Hemophagocytic Lymphohistiocytosis, Familial, 3	Granulocytopenia, Hemophagocytosis, Hepatosplenomegaly, Reduced natural killer cell activity, Anemia	OMIM:608898
Inflammatory Bowel Disease 28, Autosomal Recessive	Crohn's disease, Colitis, Enterocolitis, Folliculitis, Pyoderma, Hematochezia, Perianal abscess	OMIM:613148
Hyperlipoproteinemia, Type Ii, And Deafness	Hypertriglyceridemia, Hearing impairment, Increased LDL cholesterol concentration, Hypercholester...	OMIM:144300
Inflammatory Bowel Disease 25, Autosomal Recessive	Enterocolitis, Folliculitis, Pancolitis, Perianal abscess, Rectovaginal fistula, Enterocutaneous ...	OMIM:612567
Hirschsprung Disease, Susceptibility To, 1	Constipation, Abdominal distention, Enterocolitis, Vomiting, Abnormality of enteric ganglion morp...	OMIM:142623
Adamantinoma	Hypercalcemia	ORPHA:55881
Cutaneous Photosensitivity And Colitis, Lethal	Diarrhea, Colitis	OMIM:219095
Glycogen Storage Disease Vi	Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia	OMIM:232700
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating IgG level, Neutrophilia, Leukocytosis, Dec...	OMIM:619281
Blue Diaper Syndrome	Hypercalcemia, Abnormal circulating tryptophan concentration	OMIM:211000
Immunodeficiency 81	Impaired collagen-induced platelet aggregation, Abnormally low T cell receptor excision circle le...	OMIM:619374
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Bloody diarrhea, Ulcerative colitis	OMIM:619398
Congenital Disorder Of Glycosylation, Type Iip	Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper...	OMIM:616829
Inflammatory Bowel Disease (Crohn Disease) 30	Bloody diarrhea, Ileitis, Gastritis, Abdominal pain, Pancolitis, Vomiting, Protein-losing enterop...	OMIM:619079
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Hypokalemia, Hypochloremia, Increased circulating renin level	OMIM:300971
Severe Combined Immunodeficiency, X-Linked	Decreased circulating IgA level, Decreased circulating IgG level, Hypoplasia of the thymus, Decre...	OMIM:300400
Azotemia, Familial	Azotemia	OMIM:109160
Hyperlipidemia, Familial Combined, 3	Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co...	OMIM:144250
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia	OMIM:610947
Hypercholesterolemia, Familial, 4	Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia	OMIM:603813
Enterokinase Deficiency	Hypoproteinemia	OMIM:226200
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Hypercholesterolemia	OMIM:607250
Diarrhea 7, Protein-Losing Enteropathy Type	Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia	OMIM:615863
Inflammatory Bowel Disease (Crohn Disease) 1	Crohn's disease, Abdominal pain, Diarrhea, Inflammation of the large intestine, Intestinal obstru...	OMIM:266600
Granulomatous Disease, Chronic, Autosomal Recessive, 3	Colitis, Diarrhea, Perioral eczema, Recurrent sinusitis, Recurrent aphthous stomatitis	OMIM:613960
Ficolin 3 Deficiency	Necrotizing enterocolitis	OMIM:613860
Appendicitis, Proneness To	Abnormal large intestine morphology	OMIM:107700
Trypsinogen Deficiency	Hypoproteinemia	OMIM:614044
Hypocalcemia, Autosomal Dominant 2	Hypocalcemia	OMIM:615361
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Diarrhea 1, Secretory Chloride, Congenital	Hyperaldosteronism, Hypokalemia, Hypochloremia, Hyponatremia	OMIM:214700
Inflammatory Bowel Disease 11	Diarrhea, Inflammation of the large intestine, Abdominal pain, Hematochezia	OMIM:191390
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Splenomegaly, Abnormal natural killer cell physiology, Hepatosplenomegaly, Decr...	OMIM:613101
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia	OMIM:301033
Immunodeficiency 20	Reduced natural killer cell activity, Reduced natural killer cell count	OMIM:615707
Distal Myopathy, Tateyama Type	Abnormal circulating creatine kinase concentration, Hypercholesterolemia	ORPHA:488650
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration	OMIM:615883
5-Oxoprolinase Deficiency	Vomiting, Diarrhea, Enterocolitis, Abdominal pain	OMIM:260005
Hypervitaminosis A, Susceptibility To	Hypercalcemia	OMIM:240150
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Sensorineural hearing impairment, Hypoproteinemia	OMIM:221400
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest...	OMIM:620058
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia	DECIPHER:16
Analbuminemia	Elevated circulating transferrin concentration, Hypoalbuminemia, Increased LDL cholesterol concen...	OMIM:616000
Hyperparathyroidism 4	Hypercalcemia	OMIM:617343
Cholestasis, Progressive Familial Intrahepatic, 10	Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypercholesterolemia, ...	OMIM:619868
Lymphoproliferative Syndrome, X-Linked, 1	Neutropenia, Decreased circulating IgG level, Lymphocytosis, Hemophagocytosis, Splenomegaly, Apla...	OMIM:308240
Morbid Obesity And Spermatogenic Failure	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr...	OMIM:615703
Multiple Myeloma	Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia	ORPHA:29073
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Sensorineural hearing impairment, Hypokalemia, Hyponatremia, Hyperaldosteronism, Hypochloremia, H...	OMIM:613090
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Hypoparathyroidism, Familial Isolated, 2	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	OMIM:618883
Granulomatous Slack Skin	Hypercalcemia	ORPHA:33111
Renal Failure, Progressive, With Hypertension	Elevated circulating creatinine concentration	OMIM:161900
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia	OMIM:137280
Gastroesophageal Reflux	Esophagitis, Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus	OMIM:109350
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Hypercholesterolemia	ORPHA:94124
Hypercalcemia, Infantile, 2	Hypophosphatemia, Hypercalcemia	OMIM:616963
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Sensorineural hearing impairment, Hypercalcemia	ORPHA:2668
Citrullinemia, Type Ii, Neonatal-Onset	Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemia, Hypertriglycerid...	OMIM:605814
Glycogen Storage Disease Ixa1	Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia	OMIM:306000
Gaisböck Syndrome	Hyperproteinemia, Increased circulating renin level, Hypertriglyceridemia, Hyperuricemia, Hyperch...	ORPHA:90041
Pseudohypoparathyroidism Type 2	Hypocalcemia, Laryngeal dystonia, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures	ORPHA:94090
Immunodeficiency 43	Hypoalbuminemia, Hypoproteinemia	OMIM:241600
Visceral Myopathy 2	Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Necrotizing en...	OMIM:619350
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Hyperkalemia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Hyperkalemia	OMIM:614495
Interstitial Nephritis, Karyomegalic	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:614817
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Congenital Disorder Of Glycosylation, Type Iio	Elevated circulating creatine kinase concentration, Decreased circulating ceruloplasmin concentra...	OMIM:616828
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Sensorineural hearing impairment, Hypokalemia, Hyponatremia, Hyperaldosteronism, Hypochloremia, H...	OMIM:602522
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency	Hypoalbuminemia, Hypoproteinemia	OMIM:600351
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Low-set ears, Hypercalcemia	OMIM:614732
Hepatic Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia	OMIM:614025
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates	Elevated circulating creatine kinase concentration	ORPHA:88635
Hypomagnesemia 1, Intestinal	Hypomagnesemia, Hypocalcemia	OMIM:602014
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Hypoproteinemia	OMIM:207731
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Hyperkalemia	OMIM:614492
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Hyperkalemia	OMIM:614496
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentration, Head tremor, Chor...	ORPHA:64753
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased circulating antibody level, Absent isohemagglutinin level, Splenomegaly, Increased prop...	OMIM:615559
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Hypocalcemia, Hypercholesterolemia	OMIM:612526
Hemophagocytic Syndrome Associated With An Infection	Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperproteinemia	ORPHA:158048
Diffuse Neonatal Hemangiomatosis	Hypercalcemia	ORPHA:2123
Pseudohypoparathyroidism, Type Ii	Hypocalcemia, Hyperphosphatemia	OMIM:203330
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Decreased circulating renin level, Decreased serum creatinine, Hyponatremia	OMIM:300539
Bartter Syndrome Type 4	Hypomagnesemia, Hypokalemia, Protruding ear, Increased circulating renin level, Hyponatremia, Hyp...	ORPHA:89938
Lymphangiectasia, Intestinal	Neonatal hypoproteinemia	OMIM:152800
Blue Diaper Syndrome	Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Uremic Pruritus	Increased blood urea nitrogen, Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia	ORPHA:94059
Saccharopinuria	Citrullinuria, Hyperlysinemia, Cystinuria, Hyperammonemia, Tremor, Hyperlysinuria, Abnormality of...	ORPHA:3124
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Elevated circulating creatinine concentration	OMIM:242530
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Hypoproteinemia	ORPHA:1116
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hypercalcemia	OMIM:239199
Familial Isolated Hyperparathyroidism	Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia	ORPHA:99879
Congenital Analbuminemia	Hyperlipidemia, Hypoproteinemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia	ORPHA:86816
Growth Hormone Insensitivity Syndrome	Hearing impairment, Hypercholesterolemia	ORPHA:181393
Immunodeficiency 37	Colitis, Infectious encephalitis	OMIM:616098
2P21 Microdeletion Syndrome	Hypocalcemia, Low-set, posteriorly rotated ears, Cystinuria	ORPHA:163693
Bartter Syndrome, Type 1, Antenatal	Hypomagnesemia, Hypokalemia, Increased circulating renin level, Hypercalcemia, Increased serum pr...	OMIM:601678
Citrullinemia Type Ii	Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Decreased HDL cholesterol concentration, H...	ORPHA:247585
Temple Syndrome	Hypertriglyceridemia, Posteriorly rotated ears, Hypercholesterolemia	OMIM:616222
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated creatine kinase after exercise, Hypercalcemia	ORPHA:284426
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Colitis	ORPHA:88643
Autoinflammation With Infantile Enterocolitis	Splenomegaly, Reduced natural killer cell activity, Pancytopenia, Anemia, Thrombocytopenia, Reduc...	OMIM:616050
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Elevated circulating creatine kinase concentration, Tremor, Hypoalbuminemia, Hypercholesterolemia...	OMIM:208920
Hypercholesterolemia, Familial, 3	Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia	OMIM:603776
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Tremor, Decreased serum creatinine, Hypocystinemia	OMIM:617744
Nephrotic Syndrome, Type 1	Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia	OMIM:256300
Drug-Induced Lupus Erythematosus	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:231111
Non-Functioning Paraganglioma	Tremor, Pulsatile tinnitus, Conductive hearing impairment, Hypercalcemia	ORPHA:94080
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Colitis, Minimal change glomerulonephritis	OMIM:617006
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Hypercholesterolemia	ORPHA:75234
Oculocerebrodental Syndrome	Sensorineural hearing impairment, Conductive hearing impairment, Hypocalcemia, Hypercalcemia, Hea...	ORPHA:557003
Hypophosphatasia	Hypercalcemia	ORPHA:436
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol...	OMIM:207750
Rhabdoid Tumor	Hypercalcemia	ORPHA:69077
Renal Tubular Acidosis, Distal, 1	Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia	OMIM:179800
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hearing impairment, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration	OMIM:619658
Nephrotic Syndrome, Type 22	Hypoproteinemia	OMIM:619155
Epidermolysis Bullosa Acquisita	Inflammation of the large intestine, Abdominal pain	ORPHA:46487
Vitamin D-Dependent Rickets, Type 3	Hypophosphatemia, Hypocalcemia	OMIM:619073
Bartter Syndrome, Type 2, Antenatal	Hypomagnesemia, Hypokalemia, Increased circulating renin level, Macrotia, Increased serum prostag...	OMIM:241200
Persistent Polyclonal B-Cell Lymphocytosis	Decreased circulating total IgM, Lymphocytosis, Splenomegaly	OMIM:606445
Lymphoproliferative Syndrome, X-Linked, 2	Colitis, Folliculitis, Recurrent skin infections, Inflammation of the large intestine, Hepatitis,...	OMIM:300635
Hypercholesterolemia, Familial, 2	Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:144010
Reticular Dysgenesis	Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Leukopenia, Congenital agranulocy...	OMIM:267500
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia	OMIM:145001
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	ORPHA:2239
Refractory Celiac Disease	Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia	ORPHA:398063
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hyperphosphatemia, Hypercalcemia	OMIM:617994
Hemophagocytic Lymphohistiocytosis, Familial, 1	Increased circulating ferritin concentration, Hypoproteinemia, Increased LDL cholesterol concentr...	OMIM:267700
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612922
Hypoparathyroidism, Familial Isolated, 1	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	OMIM:146200
Morgagni-Stewart-Morel Syndrome	Action tremor, Hyperuricemia, Hypercholesterolemia	ORPHA:77296
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612926
Congenital Disorder Of Glycosylation, Type Ij	Tremor, Hypoproteinemia	OMIM:608093
Hypocalcemia, Autosomal Dominant 1	Hypomagnesemia, Hypokalemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia	OMIM:601198
Nephronophthisis-Like Nephropathy 2	Elevated circulating creatinine concentration	OMIM:619468
Pseudohypoparathyroidism, Type Ib	Hypocalcemia, Hyperphosphatemia	OMIM:603233
Coenzyme Q10 Deficiency, Primary, 8	Hearing impairment, Elevated circulating creatinine concentration	OMIM:616733
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia	OMIM:612089
Cerebral Creatine Deficiency Syndrome 2	Tremor, Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine	OMIM:612736
Immunodeficiency, Common Variable, 11	Crohn's disease, Inflammation of the large intestine, Mucoid diarrhea	OMIM:615767
Tubulointerstitial Nephritis With Uveitis	Elevated circulating creatinine concentration	OMIM:607665
Idiopathic Non-Lupus Full-House Nephropathy	Elevated circulating creatinine concentration	ORPHA:567544
Hypercalcemia, Infantile, 1	Infantile hypercalcemia	OMIM:143880
Progressive Familial Intrahepatic Cholestasis	Hypocalcemia	ORPHA:172
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612925
Pancreatic insufficiency, combined exocrine	Hypoproteinemia	OMIM:260450
Immunodeficiency 76	Colitis, Recurrent pneumonia, Chronic diarrhea	OMIM:619164
Pseudomyxoma Peritonei	Constipation, Abdominal pain, Inflammation of the large intestine, Intestinal obstruction, Nausea...	ORPHA:26790
Hypocalciuric Hypercalcemia, Familial, Type I	Hypercalcemia, Hypermagnesemia	OMIM:145980
Chylomicron Retention Disease	Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, H...	OMIM:246700
Glucose-Galactose Malabsorption	Hypercalcemia, Hypernatremia	ORPHA:35710
Paternal Uniparental Disomy Of Chromosome 1	Increased blood urea nitrogen, Hypercalcemia	ORPHA:251004
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypercalcemia, Hypermagnesemia	OMIM:145981
Pheochromocytoma--Islet Cell Tumor Syndrome	Hypercalcemia	OMIM:171420
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Ectodermal Dysplasia And Immunodeficiency 1	Increased circulating IgA level, Abnormal circulating IgG level, Reduced natural killer cell acti...	OMIM:300291
Preeclampsia	Elevated circulating creatinine concentration	ORPHA:275555
Ring Chromosome 10 Syndrome	Abnormal antihelix morphology, Low-set ears, Hypocalcemia, Large earlobe	ORPHA:1438
Infantile Myofibromatosis	Hypercalcemia	ORPHA:2591
Ménétrier Disease	Hypoalbuminemia, Hypoproteinemia	ORPHA:2494
Fanconi Renotubular Syndrome 3	Elevated circulating creatinine concentration, Aminoaciduria	OMIM:615605
Thrombotic Thrombocytopenic Purpura, Hereditary	Tremor, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:274150
Immunodeficiency 70	Colitis, Recurrent sinusitis, Furuncle, Achalasia, Celiac disease	OMIM:618969
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Hypocalcemia, Hypoproteinemia, Hyperammonemia, Elevated circulating creatine kinase concentration...	ORPHA:26793
46,Xy Sex Reversal 4	Sensorineural hearing impairment, Elevated circulating creatinine concentration, Increased blood ...	OMIM:154230
Alpha-Heavy Chain Disease	Hypocalcemia	ORPHA:100025
Orthostatic Hypotension 1	Hypomagnesemia, Increased blood urea nitrogen	OMIM:223360
Hypophosphatasia, Infantile	Elevated plasma pyrophosphate, Hypercalcemia	OMIM:241500
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Hypercholesterolemia	ORPHA:254531
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Ileal ulcer, Colitis, Skin rash, Anterior uveitis	OMIM:616744
Paget Disease Of Bone 2, Early-Onset	Hydroxyprolinuria, Bilateral conductive hearing impairment, Hypercalcemia	OMIM:602080
Coach Syndrome 2	Elevated circulating creatinine concentration	OMIM:619111
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Cystic acne, Colitis, Arthritis, Acne, Sterile arthritis	OMIM:604416
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:235400
Oculoskeletodental Syndrome	Hearing impairment, Hypocalcemia, Hypercalcemia	OMIM:618440
Omenn Syndrome	Hypoproteinemia	OMIM:603554
Linear Iga Dermatosis	Inflammation of the large intestine	ORPHA:46488
Thymic Neuroendocrine Tumor	Hypercalcemia, Increased circulating cortisol level	ORPHA:97289
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hypophosphatemia, Aminoaciduria, Hypercalcemia	OMIM:239200
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra...	ORPHA:567548
Nephrotic Syndrome, Type 11	Hypoalbuminemia, Hypercholesterolemia	OMIM:616730
Galactokinase Deficiency	Sensorineural hearing impairment, Increased level of galactitol in plasma, Hypergalactosemia, Hyp...	ORPHA:79237
Adenine Phosphoribosyltransferase Deficiency	Elevated circulating creatinine concentration	OMIM:614723
Dengue Fever	Hypoproteinemia	ORPHA:99828
Metaphyseal Chondrodysplasia, Jansen Type	Hearing impairment, Hypophosphatemia, Hypercalcemia	OMIM:156400
Ataxia With Vitamin E Deficiency	Increased LDL cholesterol concentration, Hypertriglyceridemia, Xanthelasma, Dystonia, Hypercholes...	OMIM:277460
Primary Intestinal Lymphangiectasia	Hypomagnesemia, Hypocalcemia, Hypoalbuminemia, Hypoproteinemia	ORPHA:90362
Secondary Short Bowel Syndrome	Malabsorption, Constipation, Enterocolitis, Intestinal atresia, Steatorrhea, Small intestinal dys...	ORPHA:95427
Immunodeficiency 57 With Autoinflammation	Gastritis, Skin rash, Diarrhea, Inflammation of the large intestine, Perianal abscess, Bronchiect...	OMIM:618108
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypophosphatemia, Hypercalcemia, Hypermagnesemia	OMIM:600740
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Elevated circulating creatinine concentration, Dystonia, Hyperuricemia	ORPHA:79233
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoalbuminemia, Hypoproteinemia	OMIM:226300
Sporadic Pheochromocytoma/Secreting Paraganglioma	Tremor, Pulsatile tinnitus, Conductive hearing impairment, Hypercalcemia	ORPHA:276621
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema	Chronic gastritis, Colitis, Eczema, Diarrhea, Inflammation of the large intestine, Arthritis, Dys...	OMIM:608809
Smith-Magenis Syndrome	Hypertriglyceridemia, Morphological abnormality of the middle ear, Hearing impairment, Hyperchole...	OMIM:182290
Hypotonia-Cystinuria Syndrome	Hypocalcemia, Posteriorly rotated ears, Cystinuria, Macrotia	OMIM:606407
Laron Syndrome	Hypercholesterolemia	ORPHA:633
Immunodeficiency 60 And Autoimmunity	Crohn's disease, Colitis, Chronic diarrhea, Ulcerative colitis, Bronchiectasis	OMIM:618394
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hyperlysinemia, Hyperbilirubinemia, Increased LDL cholesterol concentration, Abnormal circulating...	ORPHA:247598
Hemophagocytic Lymphohistiocytosis, Familial, 2	Increased circulating ferritin concentration, Hypoproteinemia, Hypertriglyceridemia, Increased to...	OMIM:603553
Autoimmune Hypoparathyroidism	Hypocalcemia, Laryngeal dystonia, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures	ORPHA:36913
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Low-set ears, Hypocalcemia, Hypoproteinemia	OMIM:235255
Monosomy 13Q34	Infantile hypercalcemia, Posteriorly rotated ears, Abnormal earlobe morphology	ORPHA:96168
Lesch-Nyhan Phenotype With Normal Hgprt	Choreoathetosis, Hyperuricemia	OMIM:308950
Congenital Disorder Of Glycosylation, Type Ih	Low-set ears, Elevated circulating creatinine concentration, Hypoalbuminemia	OMIM:608104
Hereditary Renal Hypouricemia	Increased blood urea nitrogen, Hypouricemia	ORPHA:94088
C3 Glomerulopathy	Elevated circulating creatinine concentration	ORPHA:329918
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine	ORPHA:54057
Acute Adrenal Insufficiency	Decreased circulating cortisol level, Increased circulating renin level, Hyponatremia, Hyperurice...	ORPHA:95409
Hyperlipoproteinemia, Type I	Lactescent serum, Increased circulating chylomicron concentration, Hyperlipidemia, Hypercholester...	OMIM:238600
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Infantile hypercalcemia, Hypocalcemic sei...	ORPHA:405
Cholestasis, Progressive Familial Intrahepatic, 8	Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Increased serum bile acid concentratio...	OMIM:619662
Familial Hemophagocytic Lymphohistiocytosis	Hemophagocytosis, Splenomegaly, Reduced natural killer cell activity, Decreased circulating antib...	ORPHA:540
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Elevated alpha-fetoprotein, Elevated circulating creatinine concentration, Hypokalemia	OMIM:613095
Wiskott-Aldrich Syndrome	Decreased specific anti-polysaccharide antibody level, Lymphopenia, Increased circulating IgA lev...	OMIM:301000
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hypocalcemia, Hyperphosphatemia, Low-set ears, Posteriorly rotated ears, Hypocalcemic seizures	OMIM:241410
Autosomal Recessive Kenny-Caffey Syndrome	Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures	ORPHA:93324
Esophagitis, Eosinophilic, 1	Dysphagia, Vomiting, Esophagitis	OMIM:610247
Esophagitis, Eosinophilic, 2	Dysphagia, Vomiting, Esophagitis	OMIM:613412
Leptospirosis	Hyperproteinemia	ORPHA:509
Cryoglobulinemia, Familial Mixed	Elevated circulating creatinine concentration	OMIM:123550
Erythrocyte Lactate Transporter Defect	Elevated circulating creatine kinase concentration	OMIM:245340
Late-Onset Isolated Acth Deficiency	Hyponatremia, Hypercalcemia, Decreased circulating cortisol level, Hyperuricemia	ORPHA:199299
Diarrhea 10, Protein-Losing Enteropathy Type	Hypomagnesemia, Hypocalcemia, Hypertriglyceridemia, Hypoalbuminemia, Hyponatremia, Low-set ears	OMIM:618183
Hermansky-Pudlak Syndrome 2	Enlarged platelet dense granules, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Reduced nat...	OMIM:608233
Nephronophthisis 2	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:602088
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Decreased circulating cortisol level, Hyperkalemia, Hypochloremia, Hyponatremia	ORPHA:90794
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Tremor, Hypercalcemia	ORPHA:476126
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia	Eosinophilic microabscess formation in the esophagus, Gastroesophageal reflux, Feeding difficulti...	ORPHA:411696
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Low-set ears, Hypocalcemia, Hypoproteinemia	ORPHA:1655
Congenital Generalized Lipodystrophy	Hypertriglyceridemia, Increased C-peptide level, Hypercholesterolemia	ORPHA:528
Abdominal Obesity-Metabolic Syndrome 3	Hypercholesterolemia	OMIM:615812
Johanson-Blizzard Syndrome	Sensorineural hearing impairment, Hypoproteinemia	ORPHA:2315
Autosomal Dominant Hypophosphatemic Rickets	Hypophosphatemia, Hypocalcemia	ORPHA:89937
Hereditary Pheochromocytoma-Paraganglioma	Tremor, Pulsatile tinnitus, Conductive hearing impairment, Hypercalcemia	ORPHA:29072
Cog4-Cdg	Hypercholesterolemia	ORPHA:263501
Familial Isolated Hypoparathyroidism	Hypocalcemia	ORPHA:2238
Trichohepatoenteric Syndrome 2	Bloody diarrhea, Colitis, Chronic hepatitis, Diarrhea, Villous atrophy, Chronic diarrhea	OMIM:614602
Sitosterolemia 1	Elevated circulating sitosterol concentration, Reduced haptoglobin level, Xanthelasma, Hyperchole...	OMIM:210250
Pseudohypoparathyroidism Type 1B	Hypocalcemia, Laryngeal dystonia, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures	ORPHA:94089
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia	ORPHA:209902
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion	Abnormal circulating calcium concentration	ORPHA:140286
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Interstitial pneumonitis, Enterocolitis, Ulcerative colitis	OMIM:614878
Relapsing Fever	Increased total bilirubin, Elevated circulating creatinine concentration, Elevated circulating C-...	ORPHA:91547
Pheochromocytoma	Hypercalcemia	OMIM:171300
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated circulating long chain fatty acid concentration, Hyperammonemia, Overfolded helix, Eleva...	OMIM:608836
Dopamine Beta-Hydroxylase Deficiency	Elevated circulating creatinine concentration, Increased blood urea nitrogen	ORPHA:230
Mastocytosis	Hypercalcemia	ORPHA:98292
Timothy Syndrome	Hypocalcemia	OMIM:601005
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:223900
9Q31.1Q31.3 Microdeletion Syndrome	Hypercholesterolemia	ORPHA:401923
Addison Disease	Decreased circulating cortisol level, Increased circulating renin level, Hyponatremia, Hyperurice...	ORPHA:85138
Genetic Recurrent Myoglobinuria	Highly elevated creatine kinase, Hypocalcemia, Hyperphosphatemia, Hyperkalemia	ORPHA:99845
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Hypercholesterolemia	ORPHA:96184
Bare Lymphocyte Syndrome, Type Ii	Malabsorption, Colitis, Viral hepatitis, Villous atrophy, Protracted diarrhea, Chronic mucocutane...	OMIM:209920
Lactic Acidosis, Chronic Adult Form	Hyperuricemia	OMIM:150170
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Increased blood urea nitrogen, Tremor, Macrotia, Hearing imp...	ORPHA:90321
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Bloody diarrhea, Duodenal atresia, Enterocolitis, Intestinal atresia, Intestinal malrotation, Ile...	OMIM:243150
Congenital Disorder Of Glycosylation, Type Iit	Conductive hearing impairment, Decreased HDL cholesterol concentration, Decreased serum creatinin...	OMIM:618885
Megalocornea-Mental Retardation Syndrome	Large fleshy ears, Cupped ear, Hypercholesterolemia	OMIM:249310
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated circulating creatine kinase concentration, Hypoproteinemia	OMIM:615895
Albers-Schönberg Osteopetrosis	Hearing impairment, Hypocalcemia	ORPHA:53
Hyperphosphatasia With Mental Retardation Syndrome 6	High palate, Abdominal pain, Feeding difficulties, Necrotizing enterocolitis, Vomiting	OMIM:616809
Megalocornea-Intellectual Disability Syndrome	Sensorineural hearing impairment, Protruding ear, Hypercholesterolemia	ORPHA:2479
Multiple Endocrine Neoplasia, Type I	Hypercalcemia, Increased circulating cortisol level	OMIM:131100
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Low-set ears, Hearing impairment, Hypercalcemia	ORPHA:369837
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Elevated circulating creatinine concentration	OMIM:614376
Dysbetalipoproteinemia	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	ORPHA:412
Lysosomal Acid Lipase Deficiency	Increased LDL cholesterol concentration, Steatorrhea, Decreased HDL cholesterol concentration, Hy...	OMIM:278000
Sickle Cell Anemia	Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia	ORPHA:232
Fibrous Dysplasia Of Bone	Hearing impairment, Hypophosphatemia, Hypercalcemia, Increased circulating cortisol level	ORPHA:249
Dyskeratosis Congenita, Autosomal Recessive 5	Colitis, Esophageal stenosis	OMIM:615190
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Colitis, Abdominal pain, Skin rash, Diarrhea, Inflammation of the large intest...	OMIM:301074
Immunodeficiency 58	Colitis, Seborrheic dermatitis, Eczema, Chronic otitis media, Helicobacter pylori infection, Alle...	OMIM:618131
Galloway-Mowat Syndrome 7	Hypercholesterolemia	OMIM:618348
Mandibuloacral Dysplasia	Hypertriglyceridemia, Hypercholesterolemia, Increased circulating free fatty acid level	ORPHA:2457
Kenny-Caffey Syndrome, Type 1	Hypomagnesemia, Hypocalcemia	OMIM:244460
Acute Interstitial Pneumonia	Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration	ORPHA:79126
Immunodeficiency, Common Variable, 8, With Autoimmunity	Recurrent otitis media, Colitis, Conjunctivitis, Atrophic gastritis, Inflammation of the large in...	OMIM:614700
Sanjad-Sakati Syndrome	Low-set, posteriorly rotated ears, Hypocalcemia, Hyperphosphatemia, External ear malformation	ORPHA:2323
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypomagnesemia, Hypokalemia, Hypocalcemia	OMIM:175500
Spondyloarthropathy, Susceptibility To, 1	Oligoarthritis, Inflammation of the large intestine, Anterior uveitis, Hip osteoarthritis, Sacroi...	OMIM:106300
Colchicine Poisoning	Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Hy...	ORPHA:31824
Hepatocellular Carcinoma	Hypokalemia, Hyperbilirubinemia, Hypoalbuminemia, Hypercalcemia, Hyponatremia	ORPHA:88673
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
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypertriglyceridemia, Hypercholesterolemia	OMIM:610644
Congenital Disorder Of Glycosylation, Type Ig	Sensorineural hearing impairment, Abnormal pinna morphology, Hypocalcemia	OMIM:607143
Juvenile Nephropathic Cystinosis	Hypophosphatemia, Hypokalemia, Hypocalcemia, Aminoaciduria, Hypocalcemic tetany, Elevated circula...	ORPHA:411634
Smith-Magenis Syndrome	Hypertriglyceridemia, Conductive hearing impairment, Hypercholesterolemia	ORPHA:819
Neuroleptic Malignant Syndrome	Hypomagnesemia, Hypocalcemia, Oculogyric crisis, Elevated circulating creatine kinase concentrati...	ORPHA:94093
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia	ORPHA:370
Chédiak-Higashi Syndrome	Increased circulating ferritin concentration, Hypoproteinemia, Hypertriglyceridemia, Tremor, Hypo...	ORPHA:167
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia	ORPHA:79240
Dahlberg-Borer-Newcomer Syndrome	Hypocalcemia	ORPHA:1563
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated circulating creatinine concentration, Hyperbilirubinemia	ORPHA:542323
Hyperparathyroidism-Jaw Tumor Syndrome	Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia	ORPHA:99880
Aapoaiv Amyloidosis	Hyperlipidemia, Elevated circulating creatinine concentration	ORPHA:439232
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Colitis, Recurrent infection of the gastrointestinal tract, ...	ORPHA:911
Autoimmune Hepatitis	Viral hepatitis, Abdominal pain, Hepatocellular carcinoma, Sclerosing cholangitis, Fulminant hepa...	ORPHA:2137
Parathyroid Carcinoma	Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia	ORPHA:143
Lysinuric Protein Intolerance	Increased circulating ferritin concentration, Argininuria, Increased LDL cholesterol concentratio...	ORPHA:470
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Recurrent gastroenteritis, Gastritis, Eczema, Vomiting, Pneumonia, Malabsorption, Eczematoid derm...	ORPHA:37042
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Hypocalcemia	OMIM:618476
Ppoma	Hypercalcemia, Increased circulating cortisol level	ORPHA:97278
X-Linked Agammaglobulinemia	Sensorineural hearing impairment, Hypocalcemia	ORPHA:47
Shigellosis	Abdominal cramps, Bloody mucoid diarrhea, Bloody diarrhea, Paralytic ileus, Acute colitis, Abdomi...	ORPHA:810
Vipoma	Hypokalemia, Hypercalcemia, Increased circulating cortisol level	ORPHA:97282
Somatostatinoma	Increased circulating cortisol level, Hypercalcemia, Steatorrhea	ORPHA:97283
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia	ORPHA:264580
Hypocalcemic Vitamin D-Resistant Rickets	Hypophosphatemia, Hypocalcemia	ORPHA:93160
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypercholesterolemia	ORPHA:90065
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Hypomagnesemia, Oculogyric crisis, Abnormal circulating neopterin concentration, Tremor, Hyperphe...	ORPHA:1578
Pyoderma Gangrenosum	Myositis, Rheumatoid arthritis, Pustule, Inflammation of the large intestine	ORPHA:48104
Bacterial Toxic-Shock Syndrome	Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulating creatine kin...	ORPHA:36234
Isolated Thyroid-Stimulating Hormone Deficiency	Neonatal hyperbilirubinemia, Hypercholesterolemia, Abnormal circulating thyroglobulin level	ORPHA:90674
Cyclic Neutropenia	Periodontitis, Sinusitis, Enterocolitis, Abdominal pain, Otitis media, Recurrent skin infections,...	ORPHA:2686
Senior-Loken Syndrome 1	Elevated circulating creatinine concentration	OMIM:266900
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Osteomyelitis, Skin rash, Palmoplantar pustulosis, Inflammation of the large intestine, Arthritis...	ORPHA:324964
Cholera	Abnormal blood ion concentration, Hypokalemia, Hyponatremia, Hypocalcemia	ORPHA:173
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Crohn's disease, Eczema, Lymphadenitis, Acute pancreatitis, Recurrent pneumonia, Perianal abscess...	OMIM:618935
Low Phospholipid-Associated Cholelithiasis	Hypercholesterolemia	ORPHA:69663
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein AI concentration, Decreased HDL cholesterol concentration, E...	ORPHA:85450
Zollinger-Ellison Syndrome	Hypercalcemia, Increased circulating cortisol level	ORPHA:913
Glucagonoma	Increased circulating cortisol level, Hypercalcemia, Steatorrhea	ORPHA:97280
Autoinflammation, Immune Dysregulation, And Eosinophilia	Membranous nephropathy, Atopic dermatitis, Colonic eosinophilia, Eosinophilic liver infiltration	OMIM:618999
Grfoma	Hypercalcemia, Increased circulating cortisol level	ORPHA:97261
Hypobetalipoproteinemia, Familial, 1	Steatorrhea, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypocholesterolemia, ...	OMIM:615558
Amoebiasis Due To Entamoeba Histolytica	Acute colitis, Bloody diarrhea, Abdominal pain, Diarrhea, Constrictive pericarditis, Intestinal o...	ORPHA:67
Sapho Syndrome	Malabsorption, Osteomyelitis, Pustule, Abdominal pain, Steatorrhea, Recurrent skin infections, Sk...	ORPHA:793
Osteopetrosis, Autosomal Recessive 1	Hearing impairment, Hypocalcemia	OMIM:259700
Hypocalcemic Vitamin D-Dependent Rickets	Generalized aminoaciduria, Hypophosphatemia, Hypocalcemic seizures, Hypocalcemia	ORPHA:289157
Structural Heart Defects And Renal Anomalies Syndrome	Low-set ears, Elevated circulating creatinine concentration	OMIM:617478
Gracile Bone Dysplasia	Hypocalcemia	OMIM:602361
Double Outlet Right Ventricle	Hypocalcemia, Abnormality of cartilage of external ear	ORPHA:3426
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:174000
Immunodeficiency 97 With Autoinflammation	Colitis, Enterocolitis, Abdominal pain, Recurrent skin infections, Eczema, Diarrhea, Recurrent ot...	OMIM:619802
Zygomycosis	Melena, Pancreatitis, Unusual gastrointestinal infection, Gastritis, Diarrhea, Vomiting, Acute in...	ORPHA:73263
Oncogenic Osteomalacia	Hypophosphatemia, Hypocalcemia	ORPHA:352540
Autosomal Dominant Hypocalcemia	Writer's cramp, Hypomagnesemia, Hypocalcemia, Hyperphosphatemia	ORPHA:428
Multiple Endocrine Neoplasia Type 4	Hypercalcemia, Increased circulating cortisol level	ORPHA:276152
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion	Hypouricemia	OMIM:307830
Hypouricemia, Renal, 2	Hypouricemia	OMIM:612076
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Hyperlipidemia, Hypercholesterolemia	OMIM:248370
Hypophosphatemic Rickets	Hypophosphatemia, Hypercalcemia	ORPHA:437
Oligomeganephronia	Hearing impairment, Elevated circulating creatinine concentration	ORPHA:2260
Hermansky-Pudlak Syndrome 1	Colitis, Abdominal pain, Inflammation of the large intestine, Hematochezia	OMIM:203300
Hypouricemia, Hypercalcinuria, And Decreased Bone Density	Hypouricemia	OMIM:242050
Lipodystrophy, Familial Partial, Type 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia	OMIM:151660
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia, Hyponatremia, Hyp...	ORPHA:90038
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Elevated circulating creatinine concentration	ORPHA:247691
Multiple Endocrine Neoplasia Type 2	Hypercalcemia	ORPHA:653
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypomagnesemia, Hypocalcemia, Hyperaldosteronism, Hypocalcemic tetany	ORPHA:73224
Immunodeficiency 47	Sensorineural hearing impairment, Decreased circulating copper concentration, Hypercholesterolemia	OMIM:300972
Pseudohypoparathyroidism Type 1C	Hypocalcemia, Laryngeal dystonia, Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemi...	ORPHA:79444
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Bronchiectasis, Colitis, Recurrent pneumonia, Chronic diarrhea	OMIM:301220
Kenny-Caffey Syndrome, Type 2	Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia	OMIM:127000
Pseudohypoparathyroidism, Type Ic	Hypocalcemic tetany, Hyperphosphatemia	OMIM:612462
Liver Disease, Severe Congenital	Increased circulating ferritin concentration, Hypocalcemia, Hyperbilirubinemia, Hypoproteinemia, ...	OMIM:619991
Papillorenal Syndrome	Sensorineural hearing impairment, Elevated circulating creatinine concentration	OMIM:120330
Bardet-Biedl Syndrome 20	Hypercholesterolemia	OMIM:619471
Paroxysmal Nocturnal Hemoglobinuria	Increased blood urea nitrogen, Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Decrea...	ORPHA:447
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypertriglyceridemia, Hypercholesterolemia	ORPHA:363618
Lysosomal Acid Lipase Deficiency	Steatorrhea, Hypertriglyceridemia, Hyponatremia, Hypercholesterolemia, Xanthelasma, Hyperkalemia	ORPHA:275761
Pierson Syndrome	Hypoproteinemia	OMIM:609049
Cardiogenic Shock	Elevated circulating creatinine concentration	ORPHA:97292
Autosomal Dominant Polycystic Kidney Disease	Elevated circulating creatinine concentration	ORPHA:730
X-Linked Lymphoproliferative Disease	Hemophagocytosis, Aplastic anemia, B lymphocytopenia, Increased proportion of CD25+ mast cells, P...	ORPHA:2442
Pseudohypoparathyroidism Type 1A	Sensorineural hearing impairment, Hypocalcemia, Laryngeal dystonia, Hypocalcemic tetany, Choreoat...	ORPHA:79443
Mitochondrial Trifunctional Protein Deficiency	Hypocalcemia	ORPHA:746
Pancreatic Triacylglycerol Lipase Deficiency	Exocrine pancreatic insufficiency, Colitis, Abdominal distention, Abdominal pain, Steatorrhea, Di...	ORPHA:309031
Immunodeficiency 82 With Systemic Inflammation	Gastritis, Diarrhea, Vomiting, Pneumonia, Colitis, Osteomyelitis, Arthritis, Villous atrophy, Hep...	OMIM:619381
Sandifer Syndrome	Gastroesophageal reflux, Hematemesis, Feeding difficulties, Hiatus hernia, Episodic vomiting, Eso...	ORPHA:71272
Craniofacioskeletal Syndrome	Hypocalcemia, Posteriorly rotated ears, Microtia	OMIM:300712
Iga Pemphigus	Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Ulcerative colitis	ORPHA:555905
Pseudohypoparathyroidism, Type Ia	Hypocalcemic tetany, Hyperphosphatemia	OMIM:103580
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Inflammation of the large intestine	OMIM:617718
Williams Syndrome	Sensorineural hearing impairment, Protruding ear, Abnormal circulating lipid concentration, Eleva...	ORPHA:904
Lowe Oculocerebrorenal Syndrome	Aminoaciduria, Bicarbonaturia, Hypercholesterolemia, Elevated maternal serum alpha-fetoprotein, E...	OMIM:309000
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hypocalcemia, Posteriorly rotated ears, Hyperbilirubinemia, Microtia	ORPHA:163979
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Necrotizing enterocolitis, Episodic vomiting, Gastroesophageal reflux	OMIM:201475
Hyperlipoproteinemia, Type Id	Colitis, Pancreatitis, Recurrent pancreatitis	OMIM:615947
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hyperlipidemia, Hypertriglyceridemia, Hyperuricemia, Xanthelasma, Hypercholesterolemia	ORPHA:79259
Multiple Endocrine Neoplasia Type 1	Primary hypercortisolism, Hypercalcemia, Increased circulating cortisol level	ORPHA:652
Celiac Disease, Susceptibility To, 1	Hypocalcemia, Steatorrhea	OMIM:212750
Congenital Disorder Of Glycosylation, Type Iil	Esophageal varix, Chronic diarrhea, Inflammation of the large intestine	OMIM:614576
Kindler Epidermolysis Bullosa	Cheilitis, Colitis, Periodontitis, Recurrent skin infections, Inflammation of the large intestine...	ORPHA:2908
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemia, Hypocalcemic seizures, Progressive sensorineural hearing impairment	ORPHA:2237
Igg4-Related Thyroid Disease	Hypocalcemia	ORPHA:64744
Oculocerebrorenal Syndrome Of Lowe	Protruding ear, Hypophosphatemia, Hypokalemia, Aminoaciduria, Hypoammonemia, Low-set, posteriorly...	ORPHA:534
Alport Syndrome 3, Autosomal Dominant	Sensorineural hearing impairment, Azotemia, Hypophosphatemia	OMIM:104200
Osteopetrosis, Autosomal Recessive 5	Hypocalcemia, Hyperbilirubinemia	OMIM:259720
Osteopetrosis With Renal Tubular Acidosis	Conductive hearing impairment, Elevated circulating creatine kinase concentration, Macrotia, Hypo...	ORPHA:2785
Visceral Steatosis, Congenital	Hypocalcemia	OMIM:228100
Reactive Arthritis	Osteomyelitis, Pustule, Abdominal pain, Diarrhea, Inflammation of the large intestine, Arthritis,...	ORPHA:29207
Autosomal Recessive Malignant Osteopetrosis	Tremor, Hearing impairment, Hypophosphatemia, Hypocalcemia	ORPHA:667
Marburg Hemorrhagic Fever	Hypokalemia, Hyperammonemia, Elevated circulating creatine kinase concentration, Elevated circula...	ORPHA:99826
Ethylene Glycol Poisoning	Hypocalcemia, Hyperkalemia	ORPHA:31826
Alagille Syndrome 1	Hypertriglyceridemia, Low-set ears, Macrotia, Hypercholesterolemia	OMIM:118450
Sepsis In Premature Infants	Decreased liver function, Abdominal distention, Enterocolitis, Diarrhea, Vomiting, Gastrointestin...	ORPHA:90051
Infection-Related Hemolytic Uremic Syndrome	Abdominal cramps, Acute colitis, Bloody diarrhea, Pancreatitis, Intussusception, Abdominal pain, ...	ORPHA:544482
Exercise-Induced Malignant Hyperthermia	Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia, Hypocalcemia	ORPHA:466650
Cartilage-Hair Hypoplasia	Hypocalcemia, Low-set, posteriorly rotated ears, Macrotia	ORPHA:175
Sweet Syndrome	Oligoarthritis, Pustule, Acne inversa, Myositis, Inflammation of the large intestine, Acne, Predo...	ORPHA:3243
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Inflammatory abnormality of the skin, Enterocolitis, Eczema, Diarrhea, Esophageal carcinoma, Vill...	ORPHA:391487
Idiopathic Hypereosinophilic Syndrome	Malabsorption, Colitis, Pancreatitis, Inflammatory abnormality of the skin, Abdominal pain, Abdom...	ORPHA:3260
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Intestinal atresia, Inflammation of the large intestine, Bronchiectasis, Dysphagia, Absent uvula,...	OMIM:619708
Pauci-Immune Glomerulonephritis	Elevated circulating creatinine concentration	ORPHA:93126
Renal Cysts And Diabetes Syndrome	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:137920
Hemorrhagic Fever-Renal Syndrome	Elevated circulating creatinine concentration, Hyperphosphatemia, Hyperkalemia	ORPHA:340
Thymoma	Rheumatoid arthritis, Neoplasm of the gastrointestinal tract, Myositis, Ulcerative colitis, Glome...	ORPHA:99867
Hennekam Syndrome	Conductive hearing impairment, Low-set ears, Hypocalcemia, External ear malformation	ORPHA:2136
Velocardiofacial Syndrome	Hypocalcemia	OMIM:192430
Pearson Syndrome	Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypokalemia, Steatorrhea, Hyperalaninemia, Hearin...	ORPHA:699
Juvenile Polyposis Syndrome	Low-set ears, Hypoproteinemia	ORPHA:2929
Sarcoidosis	Hypercalcemia	ORPHA:797
Cocaine Intoxication	Bloody diarrhea, Colitis, Abdominal pain, Vomiting, Tubulointerstitial nephritis, Nausea, Glomeru...	ORPHA:90068
Williams-Beuren Syndrome	Large earlobe, Sensorineural hearing impairment, Hypercalcemia	OMIM:194050
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Bloody diarrhea, Eosinophilic infiltration of the esophagus, Pancolitis, Perianal abscess, Anoper...	OMIM:618213
Plague	Bloody diarrhea, Enterocolitis, Abdominal pain, Hematemesis, Anorexia, Skin rash, Lymphadenitis, ...	ORPHA:707
Lipodystrophy, Familial Partial, Type 7	Tinnitus, Hypertriglyceridemia, Low-set ears, Hypercholesterolemia	OMIM:606721
Sotos Syndrome	Conductive hearing impairment, Cholesteatoma, Tremor, Hypercalcemia, Hearing impairment	ORPHA:821
Cranioectodermal Dysplasia 1	Low-set ears, Hypocalcemia, Protruding ear	OMIM:218330
Igg4-Related Kidney Disease	Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat...	ORPHA:449395
Yellow Fever	Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration...	ORPHA:99829
Gitelman Syndrome	Hypomagnesemia, Hypocalcemia, Hypokalemia, Tinnitus, Primary hyperaldosteronism, Hypermagnesemia	ORPHA:358
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Sclerosing cholangitis, Inflammation of the large intestine, Ulcerative colitis, Granulomatous ch...	ORPHA:562639
Syndromic Diarrhea	Bloody diarrhea, Colitis, Gastritis, Hepatoblastoma, Dependency on intravenous nutrition, Intract...	ORPHA:84064
Congenital Factor Xiii Deficiency	Inflammation of the large intestine, Hepatic failure	ORPHA:331
Autoimmune Lymphoproliferative Syndrome	Colitis, Gastritis, Panniculitis, Hepatocellular carcinoma, Arthritis, Hepatitis, Uveitis, Recurr...	ORPHA:3261
Goodpasture Syndrome	Increased blood urea nitrogen	OMIM:233450
Biliary, Renal, Neurologic, And Skeletal Syndrome	Increased circulating ferritin concentration, Protruding ear, Hyperbilirubinemia, Hearing impairm...	OMIM:619534
Primary Sclerosing Cholangitis	Neoplasm of the gallbladder, Cholangiocarcinoma, Pancreatitis, Adenocarcinoma of the large intest...	ORPHA:171
Homozygous Familial Hypercholesterolemia	Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia	ORPHA:391665
Acrodysostosis With Multiple Hormone Resistance	Hypocalcemia, Hyperphosphatemia	ORPHA:280651
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypocalcemia, Unconjugated hyperbilirubinemia, Hypoalbuminemia	OMIM:613658
Glycogen Storage Disease Ib	Pancreatitis, Hepatocellular carcinoma, Gout, Inflammation of the large intestine, Protuberant ab...	OMIM:232220
Wiskott-Aldrich Syndrome	Keratitis, Blepharitis, Sinusitis, Hematemesis, Otitis media, Eczema, Chronic otitis media, Infla...	ORPHA:906
Autosomal Dominant Kenny-Caffey Syndrome	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures	ORPHA:93325
22Q11.2 Deletion Syndrome	Conductive hearing impairment, Hypocalcemia, Overfolded helix, Small earlobe, Hearing impairment,...	ORPHA:567
Wiskott-Aldrich Syndrome, Autosomal Dominant	Sinusitis, Otitis media, Eczema, Diarrhea, Inflammation of the large intestine, Pneumonia	OMIM:600903
Steinert Myotonic Dystrophy	Hypercholesterolemia	ORPHA:273
Tubulointerstitial Nephritis And Uveitis Syndrome	Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat...	ORPHA:91500
Frontometaphyseal Dysplasia 2	High palate, Gastroesophageal reflux, Cleft palate, Bifid uvula, Feeding difficulties in infancy,...	OMIM:617137
Immunodeficiency 87 And Autoimmunity	Increased fecal calprotectin level, Feeding difficulties, Cleft palate, Necrotizing enterocolitis...	OMIM:619573
Thymic Aplasia	Hypocalcemic tetany	ORPHA:83471
Charge Syndrome	Sensorineural hearing impairment, Low-set ears, Hypocalcemia, Aplasia of the semicircular canal, ...	OMIM:214800
Sarcoidosis, Susceptibility To, 1	Iridocyclitis, Anorexia, Inflammation of the large intestine, Abnormal salivary gland morphology,...	OMIM:181000
Digeorge Syndrome	Low-set ears, Hypocalcemia	OMIM:188400
Johanson-Blizzard Syndrome	Sensorineural hearing impairment, Increased VLDL cholesterol concentration, Hypocalcemia	OMIM:243800
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Low-set ears, Hypomagnesemia, Hypocalcemia, Macrotia	OMIM:619503
Turner Syndrome Due To Structural X Chromosome Anomalies	High palate, High, narrow palate, Inflammation of the large intestine, Hashimoto thyroiditis, Rec...	ORPHA:99413
Turner Syndrome	High palate, High, narrow palate, Inflammation of the large intestine, Hashimoto thyroiditis, Rec...	ORPHA:881
Mosaic Monosomy X	High palate, High, narrow palate, Inflammation of the large intestine, Hashimoto thyroiditis, Rec...	ORPHA:99228
Monosomy X	High palate, High, narrow palate, Inflammation of the large intestine, Hashimoto thyroiditis, Rec...	ORPHA:99226
Chronic Thromboembolic Pulmonary Hypertension	Osteomyelitis, Inflammation of the large intestine	ORPHA:70591
Mowat-Wilson Syndrome	Constipation, Enterocolitis, Cleft palate, Dependency on intravenous nutrition, Submucous cleft o...	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

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