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 calcium level Lrbaem1(IMPC)Wtsi HOM Early adult 2.00×10-09
increased circulating HDL cholesterol level Lrbaem1(IMPC)Wtsi HOM Early adult 8.58×10-07
increased circulating creatinine level Lrbaem1(IMPC)Wtsi HOM Early adult 2.65×10-06
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
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
increased circulating total protein level Lrbaem1(IMPC)Wtsi HOM   Early adult 2.01×10-06
decreased circulating chloride level Lrbaem1(IMPC)Wtsi HOM   Early adult 7.75×10-07
abnormal ear position Lrbaem1(IMPC)Wtsi HOM Early adult 6.82×10-06

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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
Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Recurrent pneumonia, Recurren... 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
Ulcerative colitis, Crohn's disease OMIM:618077
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Reduced natural killer cell activity, Defective T c... OMIM:614493
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium, Abdominal distention OMIM:616868
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Anemia, Granulocytopenia OMIM:608898
Inflammatory Bowel Disease 28, Autosomal Recessive
Hematochezia, Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis OMIM:613148
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration ORPHA:2843
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hearing impairment, Hypertriglycer... OMIM:144300
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis, L... OMIM:619281
Hirschsprung Disease, Susceptibility To, 1
Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Enterocolitis, Constipatio... OMIM:142623
Glycogen Storage Disease Vi
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Cutaneous Photosensitivity And Colitis, Lethal
Colitis, Diarrhea OMIM:219095
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... OMIM:619374
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Pancolitis, Perianal abscess, Enterocutaneous fistula, Enterocolitis, Rectovaginal ... OMIM:612567
Adamantinoma
Hypercalcemia ORPHA:55881
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:300971
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Ulcerative colitis, Bloody diarrhea OMIM:619398
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Hypoplasia ... OMIM:300400
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal... OMIM:619079
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Hyperlipidemia, Familial Combined, 3
Increased LDL cholesterol concentration, Xanthelasma, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hyperleucinemia, Hyperammonemia, Hypervalinemia, Increased blood urea nitrogen, Hyperisoleucinemia OMIM:620085
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Diarrhea 1, Secretory Chloride, Congenital
Hyperaldosteronism, Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:214700
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct... OMIM:266600
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Immunodeficiency 20
Reduced natural killer cell activity, Reduced natural killer cell count OMIM:615707
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Abnormal natural killer cell physiology, Thro... OMIM:613101
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain OMIM:191390
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancyt... OMIM:308240
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Increased total bilirubin, Increased serum bile acid concentration, Hypercholest... OMIM:619868
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Hyperinsulinemic Hypoglycemia, Familial, 8
Increased C-peptide level, Hypercholesterolemia, Hyperammonemia OMIM:620211
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
5-Oxoprolinase Deficiency
Abdominal pain, Vomiting, Diarrhea, Enterocolitis OMIM:260005
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Decreased HD... OMIM:615703
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating creatinine concentration, Congenital sensorineural hearing impairment, Incre... OMIM:617872
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Multiple Myeloma
Elevated circulating creatinine concentration, Hyperproteinemia, Hypercalcemia ORPHA:29073
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia, Sensorineural hearing impairment OMIM:221400
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat... OMIM:616000
Gaisböck Syndrome
Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia, Increased circulatin... ORPHA:90041
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hyperaldosteronism, Sensorineural hearing impairment, Hypokalemia, Hyponatremia... OMIM:613090
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Gastroesophageal Reflux
Barrett esophagus, Gastroesophageal reflux, Esophagitis, Esophageal neoplasm OMIM:109350
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia, Sensorineural hearing impairment ORPHA:2668
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Pseudohypoparathyroidism Type 2
Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures ORPHA:94090
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia OMIM:306000
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Decreased circulating renin level OMIM:614492
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Low-set ears, Hypercalcemia OMIM:614732
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating creatine kina... OMIM:616828
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia OMIM:612526
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Head tremor, Postural tremor, Elevated circulating creatine kinase concentration... ORPHA:64753
Bartter Syndrome Type 4
Hypomagnesemia, Hyperaldosteronism, Hypokalemia, Hyponatremia, Protruding ear, Bilateral sensorin... ORPHA:89938
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Atopic dermatitis, Bronchiectasis, Colonic eosinophilia, Chronic diarrhea, Ulcerative ... OMIM:617638
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Hemophagocytic Syndrome Associated With An Infection
Hyperproteinemia, Increased circulating ferritin concentration, Hypertriglyceridemia ORPHA:158048
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni... OMIM:300539
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Dystonia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentra... OMIM:616267
Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Blue Diaper Syndrome
Hypercalcemia, Hyperphosphatemia ORPHA:94086
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Tremor, Hypohomocysteinemia, Hypocystinemia OMIM:617744
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hyperaldosteronism, Hypokalem... OMIM:601678
Congenital Analbuminemia
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin ORPHA:86816
Saccharopinuria
Hyperlysinuria, Hypercystinemia, Hyperammonemia, Tremor, Hyperlysinemia, Abnormal circulating enz... ORPHA:3124
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Reduced natural killer cell activity, Pancytopenia, Splenomega... OMIM:616050
Citrullinemia Type Ii
Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Tremor, Acute hyperammo... ORPHA:247585
2P21 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Cystinuria, Hypocalcemia ORPHA:163693
Hypercholesterolemia, Familial, 3
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Non-Functioning Paraganglioma
Pulsatile tinnitus, Hypercalcemia, Tremor, Conductive hearing impairment ORPHA:94080
Immunodeficiency 37
Colitis, Infectious encephalitis OMIM:616098
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia OMIM:256300
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Hearing impairment, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Elevated creatine kinase after exercise ORPHA:284426
Hypercalcemia, Infantile, 1
Hypercalcemia OMIM:143880
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis ORPHA:88643
Diarrhea 6
Abdominal pain, Chronic diarrhea, Meteorism, Crohn's disease OMIM:614616
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Tremor, Elevated circulating creatine kinase concentration, Hypercholesterolemia... OMIM:208920
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Decreased circulating apolipoprotein C-II concentration, Increased circulat... OMIM:207750
Oculoskeletodental Syndrome
Conductive hearing impairment, Hearing impairment, Hypocalcemia, Sensorineural hearing impairment... ORPHA:557003
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Drug-Induced Lupus Erythematosus
Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Elevated ci... ORPHA:231111
Hypophosphatasia
Hypercalcemia ORPHA:436
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hyperaldosteronism, Sensorineural hearing impairment, Hypokalemia, Hyponatremia... OMIM:602522
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Minimal change glomerulonephritis, Colitis OMIM:617006
Immunodeficiency 112
Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev... OMIM:620449
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hyperaldosteronism, Hypokalem... OMIM:241200
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas... OMIM:267700
Rhabdoid Tumor
Hypercalcemia ORPHA:69077
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia ORPHA:99879
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Lymphocytosis, Splenomegaly OMIM:606445
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma OMIM:144010
Epidermolysis Bullosa Acquisita
Abdominal pain, Inflammation of the large intestine ORPHA:46487
Immunodeficiency 43
Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, Hypoproteinemia OMIM:241600
Cerebral Creatine Deficiency Syndrome 2
Elevated circulating guanidinoacetic acid concentration, Tremor, Decreased serum creatinine OMIM:612736
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital agranulocy... OMIM:267500
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Hepatitis, Erythema nodosum, Colitis, Recurren... OMIM:300635
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Refractory Celiac Disease
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Radiation Proctitis
Hematochezia, Arteritis, Diarrhea, Tenesmus, Abnormal rectum morphology, Intestinal obstruction, ... ORPHA:70475
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Action tremor, Hyperuricemia ORPHA:77296
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Perioral eczema, Diarrhea, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent sinusiti... OMIM:613960
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:2239
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi... OMIM:605814
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia OMIM:613845
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612926
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612924
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Recurrent otitis media, Hypercholesterolemia ORPHA:254531
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration, Hearing impairment OMIM:616733
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia ORPHA:172
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Hyperuricemia OMIM:617056
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:146200
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612925
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia OMIM:620152
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia, Tremor OMIM:608093
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia OMIM:612089
Spinal Cord Injury
Hypercalcemia, Allodynia ORPHA:90058
Pseudomyxoma Peritonei
Inflammation of the large intestine, Nausea and vomiting, Intestinal obstruction, Constipation, A... ORPHA:26790
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
46,Xy Sex Reversal 4
Recurrent otitis media, Elevated circulating creatinine concentration, Sensorineural hearing impa... OMIM:154230
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Orthostatic Hypotension 1
Elevated circulating dihydroxyphenylacetic acid concentration, Increased blood urea nitrogen, Hyp... OMIM:223360
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Hyperammonemia, Hypocalcemia, Elevated circulating c... ORPHA:26793
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration OMIM:620138
Temple Syndrome
Recurrent otitis media, Posteriorly rotated ears, Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia ORPHA:35710
Paget Disease Of Bone 2, Early-Onset
Bilateral conductive hearing impairment, Hypercalcemia, Hydroxyprolinuria OMIM:602080
Immunodeficiency 76
Colitis, Recurrent pneumonia, Chronic diarrhea OMIM:619164
Immunodeficiency, Common Variable, 11
Inflammation of the large intestine, Crohn's disease, Mucoid diarrhea OMIM:615767
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Galactokinase Deficiency
Sensorineural hearing impairment, Hypercholesterolemia, Hypergalactosemia, Increased level of gal... ORPHA:79237
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Ring Chromosome 10 Syndrome
Low-set ears, Abnormal antihelix morphology, Hypocalcemia, Large earlobe ORPHA:1438
Renal Tubular Acidosis, Proximal
Elevated circulating creatinine concentration OMIM:179830
Spondyloepiphyseal Dysplasia, Nishimura Type
Hyperphosphatemia, Hypocalcemia OMIM:618618
Ménétrier Disease
Hypoalbuminemia, Hypoproteinemia ORPHA:2494
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Thrombotic Thrombocytopenic Purpura, Hereditary
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Tremor OMIM:274150
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm... ORPHA:247598
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Enterocolitis OMIM:620425
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level, Reduced na... OMIM:300291
Osteopetrosis, Autosomal Recessive 9
Elevated circulating creatinine concentration, Hyperkalemia OMIM:620366
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia OMIM:241500
Immunodeficiency 70
Recurrent sinusitis, Colitis, Achalasia, Celiac disease, Furuncle OMIM:618969
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Colitis, Skin rash, Ileal ulcer, Anterior uveitis OMIM:616744
Thymic Neuroendocrine Tumor
Hypercalcemia, Increased circulating cortisol level ORPHA:97289
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia, Hearing impairment OMIM:618440
Monosomy 13Q34
Posteriorly rotated ears, Hypercalcemia, Abnormal earlobe morphology ORPHA:96168
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia ORPHA:90362
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... ORPHA:567548
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Arthritis, Colitis, Sterile arthritis, Cystic acne, Acne OMIM:604416
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Increased total bilirubin, Increased circulating ferritin concentration, Hyponat... OMIM:603553
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen OMIM:235400
Fanconi Renotubular Syndrome 3
Aminoaciduria, Elevated circulating creatinine concentration OMIM:615605
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia,... OMIM:277460
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
Hyperparathyroidism, Neonatal Severe
Aminoaciduria, Hypophosphatemia, Hypercalcemia, Calcinosis OMIM:239200
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Diarrhea, Skin rash, Perianal abscess, Gastritis, Bronchiect... OMIM:618108
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pulsatile tinnitus, Hypercalcemia, Tremor, Conductive hearing impairment ORPHA:276621
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Dystonia, Hyperuricemia ORPHA:79233
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hypercalcemia, Hyperphosphatemia, Calcinosis OMIM:211900
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia, Hearing impairment OMIM:156400
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia OMIM:617994
Dengue Fever
Hypoproteinemia ORPHA:99828
Lesch-Nyhan Phenotype With Normal Hgprt
Choreoathetosis, Hyperuricemia OMIM:308950
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypophosphatemia, Hypercalcemia OMIM:600740
Hypotonia-Cystinuria Syndrome
Cystinuria, Posteriorly rotated ears, Hypocalcemia, Macrotia OMIM:606407
Acute Adrenal Insufficiency
Hyperuricemia, Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hypercalcemia, I... ORPHA:95409
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... OMIM:613095
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Elevated circulating creatinine concentration, Low-set ears OMIM:608104
Autoimmune Hypoparathyroidism
Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures ORPHA:36913
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Hypokalemia, Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circul... OMIM:241150
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine ORPHA:54057
Cholestasis, Progressive Familial Intrahepatic, 8
Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilir... OMIM:619662
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Hypoproteinemia OMIM:226300
Laron Syndrome
Hypercholesterolemia ORPHA:633
Immunodeficiency 60 And Autoimmunity
Ulcerative colitis, Crohn's disease, Colitis, Chronic diarrhea, Bronchiectasis OMIM:618394
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Secondary Short Bowel Syndrome
Diarrhea, Vomiting, Volvulus, Malnutrition, Villous atrophy, Malabsorption, Abnormal small intest... ORPHA:95427
Hereditary Renal Hypouricemia
Hypouricemia, Increased blood urea nitrogen ORPHA:94088
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating 18-hydroxycortisone level, Hyponatremia, Increased circulating corticostero... OMIM:610600
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Low-set ears, Hypoproteinemia, Hypocalcemia OMIM:235255
Smith-Magenis Syndrome
Abnormal middle ear morphology, Hypercholesterolemia, Hearing impairment, Hypertriglyceridemia OMIM:182290
Late-Onset Isolated Acth Deficiency
Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, Hyperuricemia ORPHA:199299
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Reduced natural killer cell activity, Splenomegaly, Thrombocytopenia, Neutropen... ORPHA:540
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Decreased specific anti-polysaccharide antibody level, Decreased ... OMIM:301000
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level OMIM:620126
Hypouricemia, Renal, 1
Hypouricemia, Elevated circulating creatinine concentration OMIM:220150
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Esophagitis, Eosinophilic, 1
Vomiting, Esophagitis, Dysphagia OMIM:610247
Esophagitis, Eosinophilic, 2
Vomiting, Esophagitis, Dysphagia OMIM:613412
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia ORPHA:93324
Hypokalemic Tubulopathy And Deafness
Hyperaldosteronism, Sensorineural hearing impairment, Increased circulating renin level OMIM:619406
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level OMIM:620125
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Allergic rhinitis, Atopic dermatitis, Gastroesophageal reflux, Vomiting, Eosinophilic microabsces... ORPHA:411696
Hyperlipoproteinemia, Type I
Lactescent serum, Hyperlipidemia, Increased circulating chylomicron concentration, Hypercholester... OMIM:238600
Leptospirosis
Hyperproteinemia ORPHA:509
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell count, Enlarged platelet dense granules, Reduced natural killer cell ... OMIM:608233
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Low-set ears, Hypoproteinemia, Hypocalcemia ORPHA:1655
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:615812
Congenital Disorder Of Glycosylation, Type Iit
Low-set ears, Hypotriglyceridemia, Conductive hearing impairment, Decreased HDL cholesterol conce... OMIM:618885
Hereditary Pheochromocytoma-Paraganglioma
Pulsatile tinnitus, Hypercalcemia, Tremor, Conductive hearing impairment ORPHA:29072
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hypochloremia ORPHA:90794
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia, Tremor ORPHA:476126
Relapsing Fever
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:91547
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Recurrent otitis media, Hypercholesterolemia ORPHA:96184
Johanson-Blizzard Syndrome
Hypoproteinemia, Sensorineural hearing impairment ORPHA:2315
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Increased C-peptide level, Hypertriglyceridemia ORPHA:528
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:223900
Sitosterolemia 1
Hyperapobetalipoproteinemia, Xanthelasma, Reduced haptoglobin level, Elevated circulating sitoste... OMIM:210250
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:209902
Pseudohypoparathyroidism Type 1B
Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures ORPHA:94089
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypermagnesemia, Hypocalcemic seizures, Hypercalcemia ORPHA:405
Lactic Acidosis, Chronic Adult Form
Hyperuricemia OMIM:150170
Addison Disease
Hyperuricemia, Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hypercalcemia, I... ORPHA:85138
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Low-set ears, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia OMIM:618183
Pheochromocytoma
Hypercalcemia OMIM:171300
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Increased blood urea nitrogen ORPHA:230
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Low-set ears, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Posteriorly rotated ears OMIM:241410
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia ORPHA:89937
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Enterocolitis, Interstitial pneumonitis, Ulcerative colitis OMIM:614878
Trichohepatoenteric Syndrome 2
Diarrhea, Villous atrophy, Chronic hepatitis, Colitis, Chronic diarrhea, Bloody diarrhea OMIM:614602
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Low-set ears, Increased total bilirubin, Elevated circulating creatinine concentration, Decreased... OMIM:608836
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Elevated circulating creatinine concentration, Posteriorly rotated ears, Reduced haptoglobin level OMIM:301110
Omenn Syndrome
Hypoproteinemia OMIM:603554
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Cockayne Syndrome Type 1
Hearing impairment, Tremor, Absent brainstem auditory responses, Increased blood urea nitrogen, M... ORPHA:90321
Preeclampsia
Elevated circulating creatinine concentration ORPHA:275555
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Ileal atresia, Colonic atresia, Bloody diarrhea, Intestinal malrotation, Psoriasifo... OMIM:243150
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase ORPHA:99845
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Hyperka... ORPHA:556037
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Recurrent otitis media, Intermittent diarrhea, Interst... OMIM:616433
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Vomiting, Abdominal pain, High palate, Necrotizing enterocolitis, Feeding difficulties OMIM:616809
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Low-set ears, Hypercalcemia, Hearing impairment, Hypertriglyceridemia ORPHA:369837
Dysbetalipoproteinemia
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia,... ORPHA:412
Multiple Endocrine Neoplasia, Type I
Hypercalcemia, Increased circulating cortisol level OMIM:131100
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration OMIM:614376
Congenital Disorder Of Glycosylation, Type Iiaa
Hypercholesterolemia, Hyperammonemia OMIM:620454
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hypoproteinemia, Elevated circulating creatine kinase concentration OMIM:615895
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Cholesteryl Ester Storage Disease
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia, Decreased HD... OMIM:278000
Megalocornea-Intellectual Disability Syndrome
Protruding ear, Hypercholesterolemia, Sensorineural hearing impairment ORPHA:2479
Dyskeratosis Congenita, Autosomal Recessive 5
Colitis, Esophageal stenosis OMIM:615190
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia OMIM:612462
Fibrous Dysplasia Of Bone
Hypophosphatemia, Hypercalcemia, Increased circulating cortisol level, Hearing impairment ORPHA:249
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Inflammation of the large intestine, Diarrhea, Anoperineal fistula, Chronic gastritis, Esophagiti... OMIM:301074
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration ORPHA:90060
Mhc Class Ii Deficiency 1
Chronic mucocutaneous candidiasis, Protracted diarrhea, Villous atrophy, Malabsorption, Infectiou... OMIM:209920
Albers-Schönberg Osteopetrosis
Hypocalcemia, Hearing impairment ORPHA:53
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:203400
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Hyperka... ORPHA:556030
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Recurrent pneumonia, Recurren... OMIM:614700
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Diarrhea, Atopic dermatitis, ... ORPHA:436159
Acute Interstitial Pneumonia
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentration ORPHA:79126
Immunodeficiency 58
Allergic rhinitis, Recurrent pneumonia, Bronchiectasis, Eczematoid dermatitis, Cutaneous abscess,... OMIM:618131
Smith-Magenis Syndrome
Conductive hearing impairment, Hypercholesterolemia, Chronic otitis media, Hypertriglyceridemia ORPHA:819
Mandibuloacral Dysplasia
Increased circulating free fatty acid level, Hypercholesterolemia, Hypertriglyceridemia ORPHA:2457
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level OMIM:177735
Neuhauser Syndrome
Cupped ear, Hypercholesterolemia, Large fleshy ears OMIM:249310
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
Spondyloarthropathy, Susceptibility To, 1
Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthritis, Psoriasiform derma... OMIM:106300
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:175500
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Hyperlipidemia ORPHA:439232
Generalized Pustular Psoriasis
Elevated circulating C-reactive protein concentration, Hyponatremia, Hypocalcemia, Hypoalbuminemia ORPHA:247353
Lysinuric Protein Intolerance
Hyperlysinuria, Intraalveolar phospholipid accumulation, Increased circulating ferritin concentra... ORPHA:470
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:49041
Juvenile Nephropathic Cystinosis
Hypouricemia, Aminoaciduria, Elevated circulating creatinine concentration, Hypocalcemic tetany, ... ORPHA:411634
Neuroleptic Malignant Syndrome
Oculogyric crisis, Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated circu... ORPHA:94093
Sanjad-Sakati Syndrome
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Hyperphosphatemia, Hypocalcemia ORPHA:2323
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Hypocalcemia OMIM:600081
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Colchicine Poisoning
Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal blood ion con... ORPHA:31824
X-Linked Agammaglobulinemia
Chronic otitis media, Hypocalcemia, Sensorineural hearing impairment ORPHA:47
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:79240
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Tremor, Hyponatremia, Hypertriglyceridemia, Hypopro... ORPHA:167
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia, Generalized aminoaciduria OMIM:264700
Timothy Syndrome
Hypocalcemia OMIM:601005
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Oculogyric crisis, Abnormal circulating biopterin concentration, Hypomagnesemia, Abnormal circula... ORPHA:1578
Autoimmune Hepatitis
Inflammation of the large intestine, Gastrointestinal hemorrhage, Sclerosing cholangitis, Glomeru... ORPHA:2137
Alopecia Totalis
Inflammation of the large intestine ORPHA:700
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Combined Immunodeficiency Due To Zap70 Deficiency
Pneumonia, Lymphadenitis, Chronic mucocutaneous candidiasis, Recurrent infection of the gastroint... ORPHA:911
Shigellosis
Pneumonia, Hepatic failure, Vomiting, Uveitis, Conjunctivitis, Tenesmus, Ulcerative colitis, Acut... ORPHA:810
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Abnormal intestine morphology, Cru... ORPHA:37042
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:264580
Senior-Loken Syndrome 1
Elevated circulating creatinine concentration OMIM:266900
East Syndrome
Hypomagnesemia, Hyperaldosteronism, Action tremor, Sensorineural hearing impairment, Hypokalemia,... ORPHA:199343
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Hypercholesterolemia ORPHA:90674
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Vipoma
Hypokalemia, Hypercalcemia, Increased circulating cortisol level ORPHA:97282
Ppoma
Hypercalcemia, Increased circulating cortisol level ORPHA:97278
Dyskeratosis Congenita, Autosomal Recessive 8
Esophageal stricture, Inflammation of the large intestine, Oral leukoplakia, Pancolitis OMIM:620133
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Elevated circulating creatinine concentration, Hypocalcemia, Elevated circulatin... ORPHA:36234
Somatostatinoma
Steatorrhea, Hypercalcemia, Increased circulating cortisol level ORPHA:97283
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia ORPHA:93160
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Membranous nephropathy, Eosinophilic liver infiltration, Colonic eosinophilia OMIM:618999
Pyoderma Gangrenosum
Myositis, Inflammation of the large intestine, Rheumatoid arthritis, Pustule ORPHA:48104
Hereditary Amyloidosis With Primary Renal Involvement
Elevated circulating creatinine concentration, Decreased circulating apolipoprotein A-I concentra... ORPHA:85450
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Hyperparathyroidism-Jaw Tumor Syndrome
Hypophosphatemia, Hypercalcemia ORPHA:99880
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hyperuricemia OMIM:174000
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia ORPHA:69663
Cyclic Neutropenia
Periodontitis, Otitis media, Peritonitis, Enterocolitis, Perianal abscess, Sinusitis, Abdominal p... ORPHA:2686
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Anal fissure, Crohn's disease, Periana... OMIM:618935
Cholera
Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia ORPHA:173
Parathyroid Carcinoma
Hypophosphatemia, Hypercalcemia ORPHA:143
Amoebiasis Due To Entamoeba Histolytica
Diarrhea, Protracted diarrhea, Acute colitis, Intestinal obstruction, Constrictive pericarditis, ... ORPHA:67
Zygomycosis
Diarrhea, Ileitis, Pustule, Acute infectious pneumonia, Abdominal pain, Endocarditis, Gastrointes... ORPHA:73263
Hypouricemia, Renal, 2
Hypouricemia OMIM:612076
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin rash, Palmoplan... ORPHA:324964
Autosomal Dominant Hypocalcemia
Writer's cramp, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:428
Structural Heart Defects And Renal Anomalies Syndrome
Low-set ears, Elevated circulating creatinine concentration OMIM:617478
Immunodeficiency 97 With Autoinflammation
Diarrhea, Eczematoid dermatitis, Recurrent otitis media, Colitis, Enterocolitis, Abdominal pain, ... OMIM:619802
Gracile Bone Dysplasia
Hypocalcemia OMIM:602361
Glucagonoma
Steatorrhea, Hypercalcemia, Increased circulating cortisol level ORPHA:97280
Congenital Disorder Of Glycosylation, Type Ig
Abnormal pinna morphology, Hypocalcemia, Sensorineural hearing impairment OMIM:607143
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Zollinger-Ellison Syndrome
Hypercalcemia, Increased circulating cortisol level ORPHA:913
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Inflammation of the large intestine, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Re... ORPHA:98813
Double Outlet Right Ventricle
Hypocalcemia, Abnormality of cartilage of external ear ORPHA:3426
Grfoma
Hypercalcemia, Increased circulating cortisol level ORPHA:97261
Primary Biliary Cholangitis
Hypoalbuminemia, Abnormal circulating lipid concentration, Xanthelasma, Hypercholesterolemia, Ste... ORPHA:186
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia, Hearing impairment OMIM:259700
Sapho Syndrome
Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Malabsorption, Chron... ORPHA:793
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia OMIM:242050
Multiple Endocrine Neoplasia Type 4
Hypercalcemia, Increased circulating cortisol level ORPHA:276152
Oligomeganephronia
Elevated circulating creatinine concentration, Hearing impairment ORPHA:2260
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Hypo... ORPHA:90038
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia, Hypercholesterolemia, Calcinosis OMIM:248370
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:151660
Hermansky-Pudlak Syndrome 1
Abdominal pain, Inflammation of the large intestine, Colitis, Hematochezia OMIM:203300
Kenny-Caffey Syndrome, Type 2
Hyperphosphatemia, Hypocalcemia, Transient hypophosphatemia OMIM:127000
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Elevated circulating creatinine concentration ORPHA:247691
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia, Generalized aminoaciduria ORPHA:289157
Liver Disease, Severe Congenital
Aminoaciduria, Increased circulating ferritin concentration, Recurrent otitis media, Hyperbilirub... OMIM:619991
Immunodeficiency 47
Decreased circulating copper concentration, Hypercholesterolemia, Sensorineural hearing impairment OMIM:300972
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Colitis, Recurrent pneumonia, Chronic diarrhea, Bronchiectasis OMIM:301220
Papillorenal Syndrome
Elevated circulating creatinine concentration, Sensorineural hearing impairment OMIM:120330
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Hypocalcemia, Hypokalemia, Hyponatremia, Calcinosis OMIM:617913
Multiple Endocrine Neoplasia Type 2
Hypercalcemia ORPHA:653
Lysosomal Acid Lipase Deficiency
Xanthelasma, Hyponatremia, Hypercholesterolemia, Hypertriglyceridemia, Steatorrhea, Hyperkalemia ORPHA:275761
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Enterocolitis OMIM:301108
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperaldosteronism, Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia ORPHA:73224
Pseudohypoparathyroidism Type 1C
Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Hypocalcemia, Calcinosis, Hypocalcemi... ORPHA:79444
Bardet-Biedl Syndrome 20
Hypercholesterolemia OMIM:619471
Hypomagnesemia 3, Renal
Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Hypomagnesemi... OMIM:248250
Paroxysmal Nocturnal Hemoglobinuria
Increased blood urea nitrogen, Unconjugated hyperbilirubinemia, Decreased circulating iron concen... ORPHA:447
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Iga Pemphigus
Pustule, Neutrophilic infiltration of the skin, Cutaneous abscess, Ulcerative colitis ORPHA:555905
Immunodeficiency 82 With Systemic Inflammation
Diarrhea, Anoperineal fistula, Pustular rash, Recurrent otitis media, Anorexia, Abdominal pain, R... OMIM:619381
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration ORPHA:730
Pierson Syndrome
Hypoproteinemia OMIM:609049
Williams Syndrome
Abnormal circulating lipid concentration, Low-set, posteriorly rotated ears, Tremor, Elevated cir... ORPHA:904
Celiac Disease, Susceptibility To, 1
Steatorrhea, Hypocalcemia OMIM:212750
Pseudohypoparathyroidism Type 1A
Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Hypocalcemia, Sensorineural hearing i... ORPHA:79443
Prader-Willi Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:176270
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia ORPHA:746
Pancreatic Triacylglycerol Lipase Deficiency
Diarrhea, Exocrine pancreatic insufficiency, Colitis, Keratoconjunctivitis sicca, Abdominal diste... ORPHA:309031
Craniofacioskeletal Syndrome
Posteriorly rotated ears, Hypocalcemia, Microtia OMIM:300712
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperbilirubinemia, Posteriorly rotated ears, Hypocalcemia, Microtia ORPHA:163979
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Xanthelasma, Hyperlipidemia, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia ORPHA:79259
Multiple Endocrine Neoplasia Type 1
Primary hypercortisolism, Hypercalcemia, Increased circulating cortisol level ORPHA:652
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Sickle Cell Anemia
Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:232
Oculocerebrorenal Syndrome Of Lowe
Aminoaciduria, Hyperaldosteronism, Low-set, posteriorly rotated ears, Hyponatremia, Hypokalemia, ... ORPHA:534
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Gastroesophageal reflux, Necrotizing enterocolitis, Episodic vomiting OMIM:201475
Cardiogenic Shock
Elevated circulating creatinine concentration ORPHA:97292
Hyperlipoproteinemia, Type Id
Colitis, Recurrent pancreatitis, Pancreatitis OMIM:615947
Alport Syndrome 3A, Autosomal Dominant
Hypophosphatemia, Azotemia, Hearing impairment, Sensorineural hearing impairment OMIM:104200
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Hematochezia, Inflammation of the large intestine, Recurrent pneumonia, Bloody diarrhea, Skin ras... OMIM:617718
Kindler Epidermolysis Bullosa
Cheilitis, Inflammation of the large intestine, Periodontitis, Esophagitis, Colitis, Abnormality ... ORPHA:2908
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Chronic diarrhea, Esophageal varix OMIM:614576
Osteopetrosis, Autosomal Recessive 5
Hyperbilirubinemia, Hypocalcemia OMIM:259720
Reactive Arthritis
Inflammation of the large intestine, Diarrhea, Osteomyelitis, Recurrent aphthous stomatitis, Pust... ORPHA:29207
Lowe Oculocerebrorenal Syndrome
Aminoaciduria, Elevated amniotic fluid alpha-fetoprotein, Elevated circulating creatine kinase co... OMIM:309000
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemic seizures, Hypocalcemia, Progressive sensorineural hearing impairment ORPHA:2237
Autosomal Recessive Malignant Osteopetrosis
Hearing impairment, Otitis media, Hypocalcemia, Tremor, Hypophosphatemia ORPHA:667
Marburg Hemorrhagic Fever
Hypoalbuminemia, Elevated circulating creatinine concentration, Hyperamylasemia, Hyperammonemia, ... ORPHA:99826
Alagille Syndrome 1
Low-set ears, Hypercholesterolemia, Macrotia, Hypertriglyceridemia OMIM:118450
Bartter Syndrome, Type 3
Hypokalemia, Hyperchloriduria, Hyperaldosteronism, Increased circulating renin level OMIM:607364
Sepsis In Premature Infants
Vomiting, Diarrhea, Decreased liver function, Functional abnormality of the gastrointestinal trac... ORPHA:90051
Cartilage-Hair Hypoplasia
Low-set, posteriorly rotated ears, Hypocalcemia, Macrotia ORPHA:175
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Diarrhea, Vomiting, Secretory diarrhea, Acute colitis, Gastrointestinal infarctions, N... ORPHA:544482
Pauci-Immune Glomerulonephritis
Elevated circulating creatinine concentration ORPHA:93126
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia ORPHA:31826
Hennekam Syndrome
Low-set ears, Abnormal pinna morphology, Conductive hearing impairment, Hypocalcemia ORPHA:2136
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Diarrhea, Eczematoid dermatitis, Chronic mucocutaneous cand... ORPHA:391487
Juvenile Polyposis Syndrome
Low-set ears, Hypoproteinemia ORPHA:2929
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration ORPHA:466650
Plague
Inflammation of the large intestine, Diarrhea, Lymphadenitis, Vomiting, Chapped lip, Bloody diarr... ORPHA:707
Hemorrhagic Fever-Renal Syndrome
Elevated circulating creatinine concentration, Hyperkalemia, Hyperphosphatemia ORPHA:340
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Vomiting, Eczematoid dermatitis, Chronic hepatitis, Malabso... ORPHA:3260
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Anoperineal fistula, Pancolitis, Eosinophilic infiltration of the esophagus, Perianal abscess, Bl... OMIM:618213
Velocardiofacial Syndrome
Hypocalcemia OMIM:192430
Sweet Syndrome
Inflammation of the large intestine, Acne inversa, Predominantly dermal neutrophilic infiltrate, ... ORPHA:3243
Renal Cysts And Diabetes Syndrome
Elevated circulating creatinine concentration, Hyperuricemia OMIM:137920
Thymoma
Rheumatoid arthritis, Ulcerative colitis, Myositis, Glomerulonephritis, Neoplasm of the gastroint... ORPHA:99867
Osteopetrosis With Renal Tubular Acidosis
Conductive hearing impairment, Hypocalcemia, Macrotia, Elevated circulating creatine kinase conce... ORPHA:2785
Pearson Syndrome
Hearing impairment, Hypomagnesemia, Hypocalcemia, Hypokalemia, Hypophosphatemia, Hyperalaninemia,... ORPHA:699
Sarcoidosis
Hypercalcemia ORPHA:797
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Inflammation of the large intestine, Absent uvula, Intestinal atresia, Rectovaginal fistula, Dysp... OMIM:619708
Williams-Beuren Syndrome
Recurrent otitis media, Large earlobe, Hypercalcemia, Sensorineural hearing impairment OMIM:194050
Lipodystrophy, Familial Partial, Type 7
Low-set ears, Tinnitus, Hypercholesterolemia, Hypertriglyceridemia OMIM:606721
Sotos Syndrome
Conductive hearing impairment, Hearing impairment, Tremor, Cholesteatoma, Hypercalcemia, Chronic ... ORPHA:821
Goodpasture Syndrome
Increased blood urea nitrogen OMIM:233450
Cocaine Intoxication
Vomiting, Gastrointestinal infarctions, Nausea, Abdominal pain, Glomerulonephritis, Tubulointerst... ORPHA:90068
Yellow Fever
Elevated circulating creatinine concentration, Hyperbilirubinemia, Elevated circulating creatine ... ORPHA:99829
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:449395
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Unconjugated hyperbilirubinemia, Hypocalcemia OMIM:613658
Cranioectodermal Dysplasia 1
Low-set ears, Protruding ear, Hypocalcemia OMIM:218330
Gitelman Syndrome
Hypermagnesemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Tinnitus, Primary hyperaldosteronism ORPHA:358
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Inflammation of the large intestine, Interface hepatitis, Sclerosing cholangitis, Granulomatous c... ORPHA:562639
Syndromic Diarrhea
Intractable diarrhea, Villous atrophy, Hepatoblastoma, Gastritis, Dependency on intravenous nutri... ORPHA:84064
Congenital Factor Xiii Deficiency
Inflammation of the large intestine, Hepatic failure ORPHA:331
Primary Sclerosing Cholangitis
Uveitis, Hepatitis, Celiac disease, Acute hepatic failure, Chronic hepatic failure, Pancreatitis,... ORPHA:171
Autoimmune Lymphoproliferative Syndrome
Hepatitis, Recurrent aphthous stomatitis, Gastritis, Neoplasm of the tongue, Glomerulonephritis, ... ORPHA:3261
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hypoalbuminemia, Low-set ears, Hearing impairment, Increased circulating ferritin concentration, ... OMIM:619534
Wiskott-Aldrich Syndrome