Gene Summary

Name:
LPS-responsive beige-like anchor
Synonyms:
Lba,  D3Ertd775e

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating cholesterol level Lrbaem1(IMPC)Wtsi HOM Early adult 4.29×10-06
absent pinna reflex Lrbaem1(IMPC)Wtsi HOM Early adult 2.84×10-16
increased circulating alkaline phosphatase level Lrbaem1(IMPC)Wtsi HOM Early adult 6.18×10-09
abnormal ear position Lrbaem1(IMPC)Wtsi HOM Early adult 6.82×10-06
decreased circulating chloride level Lrbaem1(IMPC)Wtsi HOM   Early adult 7.75×10-07
increased circulating total protein level Lrbaem1(IMPC)Wtsi HOM   Early adult 2.01×10-06
increased circulating creatinine level Lrbaem1(IMPC)Wtsi HOM Early adult 2.65×10-06
increased circulating HDL cholesterol level Lrbaem1(IMPC)Wtsi HOM Early adult 8.58×10-07
increased circulating calcium level Lrbaem1(IMPC)Wtsi HOM Early adult 2.00×10-09
increased blood urea nitrogen level Lrbaem1(IMPC)Wtsi HOM Early adult 1.26×10-06
increased circulating amylase level Lrbaem1(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.

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 Similarity of
phenotypes
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