Gene Summary

Name:
aquaporin 3
Synonyms:
N/A

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 alkaline phosphatase level Aqp3tm2b(EUCOMM)Wtsi HOM Early adult 8.14×10-15
increased circulating serum albumin level Aqp3tm2b(EUCOMM)Wtsi HOM Early adult 1.23×10-06
increased circulating cholesterol level Aqp3tm2b(EUCOMM)Wtsi HOM Early adult 4.39×10-05
increased circulating creatinine level Aqp3tm2b(EUCOMM)Wtsi HOM Early adult 3.19×10-06
increased circulating total protein level Aqp3tm2b(EUCOMM)Wtsi HOM Early adult 3.45×10-08
increased circulating HDL cholesterol level Aqp3tm2b(EUCOMM)Wtsi HOM Early adult 1.22×10-05
increased circulating calcium level Aqp3tm2b(EUCOMM)Wtsi HOM   Early adult 9.24×10-05
increased lean body mass Aqp3tm2b(EUCOMM)Wtsi HOM Early adult 2.06×10-05
increased blood urea nitrogen level Aqp3tm2b(EUCOMM)Wtsi HOM Early adult 1.73×10-11

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Kidney  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Oral epithelium  Wholemount images heterozygote 100% (2 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Skin  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thymus  Wholemount images heterozygote 100% (2 of 2)
Trachea  Wholemount images heterozygote 100% (2 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 1)
Ear N/A heterozygote 0.0% (0 of 1)
Embryo N/A heterozygote 0.0% (0 of 1)
Eye N/A heterozygote 0.0% (0 of 1)
Footplate N/A heterozygote 0.0% (0 of 1)
Forebrain N/A heterozygote 0.0% (0 of 1)
Forelimb N/A heterozygote 0.0% (0 of 1)
Handplate N/A heterozygote 0.0% (0 of 1)
Head N/A heterozygote 0.0% (0 of 1)
Heart N/A heterozygote 0.0% (0 of 1)
Hindbrain N/A heterozygote 0.0% (0 of 1)
Hindlimb N/A heterozygote 0.0% (0 of 1)
Liver N/A heterozygote Not available
Lung N/A heterozygote Not available
Mandibular process N/A heterozygote Not available
Maxillary process N/A heterozygote Not available
Midbrain N/A heterozygote 0.0% (0 of 1)
Oral cavity N/A heterozygote Not available
Skin N/A heterozygote Not available
Tail somite N/A heterozygote 0.0% (0 of 1)
Tail N/A heterozygote 0.0% (0 of 1)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 585)
aorta 0.17% (1 of 585)
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 585)
oral epithelium 0.0%
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 508)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Echo

M-Mode Images

32 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Adult LacZ

LacZ Images Wholemount

7 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Embryo LacZ

LacZ images wholemount

4 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

Human diseases caused by Aqp3 mutations

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

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

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Aqp3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Bifid Nose, Autosomal Recessive
Midline defect of the nose, Bifid nose OMIM:210400
Renal Glucosuria
Glycosuria, Enuresis nocturna, Polyuria, Polyphagia, Polydipsia OMIM:233100
Senior-Loken Syndrome 1
Polydipsia, Nephronophthisis, Stage 5 chronic kidney disease, Polyuria OMIM:266900
Senior-Loken Syndrome 4
Polydipsia, Nephronophthisis, Stage 5 chronic kidney disease, Polyuria OMIM:606996
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipoproteinemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolem... ORPHA:79506
Nephronophthisis-Like Nephropathy 2
Periglomerular fibrosis, Polyuria, Renal insufficiency, Polydipsia, Stage 5 chronic kidney diseas... OMIM:619468
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Abdominal pain, Diarrhea, Weight loss OMIM:191390
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia, Polyuria OMIM:222100
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Colonic Varices Without Portal Hypertension
Colonic varices, Intestinal bleeding OMIM:120440
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Inflammatory Bowel Disease 28, Autosomal Recessive
Hematochezia, Crohn's disease, Pyoderma, Colitis, Enterocolitis, Perianal abscess, Folliculitis OMIM:613148
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Nephronophthisis 1
Nephronophthisis, Hyposthenuria, Polyuria, Tubulointerstitial fibrosis, Tubular basement membrane... OMIM:256100
Nephronophthisis 4
Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal tubular atrophy, Renal corticomedu... OMIM:606966
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Enterocolitis
Hematochezia, Abdominal distention, Enterocolitis, Ulcerative colitis OMIM:226150
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Nephronophthisis 3
Enuresis, Polyuria, Tubulointerstitial fibrosis, Renal tubular atrophy, Renal corticomedullary cy... OMIM:604387
Glycogen Storage Disease Vi
Failure to thrive in infancy, Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Diabetes Insipidus, Neurohypophyseal, X-Linked
Polydipsia, Hydronephrosis, Polyuria OMIM:304900
Familial Hypofibrinogenemia
Gingival bleeding, Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis ORPHA:101041
Familial Dysfibrinogenemia
Gingival bleeding, Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis ORPHA:98881
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Poor suck, Esophageal neoplasm, Weight loss, Gastrointestinal hemorrhage, Gastroesophageal reflux... ORPHA:2198
Factor Vii And Factor Viii, Combined Deficiency Of
Intestinal bleeding OMIM:134430
Renal Hypoplasia
Abnormal renal tubule morphology, Unilateral renal agenesis, Abnormality of the ureter, Decreased... ORPHA:93101
Plasma Clot Retraction Factor, Deficiency Of
Bruising susceptibility, Gastrointestinal hemorrhage OMIM:262800
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hypercholesterolemia OMIM:306000
Senior-Loken Syndrome 3
Stage 5 chronic kidney disease, Enuresis, Polyuria, Renal corticomedullary cysts, Polydipsia, Nep... OMIM:606995
Ochoa Syndrome
Hydronephrosis, Urethral obstruction, Recurrent urinary tract infections, Renal insufficiency, Po... ORPHA:2704
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Hypercalcemia, Infantile, 2
Nephrocalcinosis, Hypercalciuria, Polyuria, Medullary nephrocalcinosis, Renal phosphate wasting OMIM:616963
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... OMIM:616829
Adamantinoma
Hypercalcemia ORPHA:55881
Enterokinase Deficiency
Failure to thrive, Hypoproteinemia OMIM:226200
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Trypsinogen Deficiency
Failure to thrive, Hypoproteinemia OMIM:614044
Masp2 Deficiency
Ulcerative colitis, Recurrent pneumonia OMIM:613791
Teratoma, Pineal
Polydipsia, Polyuria OMIM:273120
Acquired Central Diabetes Insipidus
Polydipsia, Pollakisuria ORPHA:95626
Hyperaldosteronism, Familial, Type Iii
Hypercalciuria, Hyperaldosteronism, Polydipsia, Polyuria OMIM:613677
Cap Polyposis
Colorectal polyposis, Hematochezia, Weight loss, Constipation, Abdominal pain, Abdominal distenti... ORPHA:160148
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:610947
Inflammatory Bowel Disease (Crohn Disease) 1
Crohn's disease, Weight loss, Recurrent aphthous stomatitis, Inflammation of the large intestine,... OMIM:266600
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Solitary Rectal Ulcer Syndrome
Hematochezia, Bloody diarrhea, Intermittent diarrhea, Decreased body weight, Stercoral ulcer, Blo... ORPHA:209964
Diarrhea 8, Secretory Sodium, Congenital
Elevated fecal sodium, Secretory diarrhea, Abdominal distention, Inflammation of the large intestine OMIM:616868
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Hypercholesterolemia, Elevated circulating apolipoprotein B concentration, Xanthe... OMIM:144250
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Hypotriglyceridemia, Failure to thrive, Hypoalbuminemia,... OMIM:246700
Congenital Factor V Deficiency
Persistent bleeding after trauma, Bruising susceptibility, Hematochezia, Spontaneous hematomas, G... ORPHA:326
Hypercholesterolemia, Familial, 4
Increased VLDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:603813
Azotemia, Familial
Azotemia OMIM:109160
Erythroderma, Lethal Congenital
Failure to thrive, Hypoalbuminemia OMIM:227090
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Obesity, Hypertriglyceridemia, Increased LDL cholesterol concentration, Dec... OMIM:615703
Hypomagnesemia 3, Renal
Renal tubular acidosis, Hypermagnesiuria, Nephrocalcinosis, Renal calcium wasting, Hematuria, Nep... OMIM:248250
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding OMIM:600195
Multiple Myeloma
Hyperproteinemia, Weight loss, Elevated circulating creatinine concentration, Hypercalcemia ORPHA:29073
Glanzmann Thrombasthenia
Bruising susceptibility, Spontaneous hematomas, Ecchymosis, Gastrointestinal hemorrhage, Purpura,... ORPHA:849
Nephronophthisis 11
Nephronophthisis, Polyuria, Tubular basement membrane disintegration, Renal tubular atrophy, Rena... OMIM:613550
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypoalbu... OMIM:616000
Cutaneous Photosensitivity And Colitis, Lethal
Colitis, Diarrhea OMIM:219095
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Inflammatory Bowel Disease (Crohn Disease) 30
Bloody diarrhea, Gastritis, Vomiting, Pancolitis, Chronic diarrhea, Abdominal pain, Abnormal inte... OMIM:619079
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Gaisböck Syndrome
Hypercholesterolemia, Increased circulating renin level, Obesity, Overweight, Hyperuricemia, Hype... ORPHA:90041
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Ulcerative colitis, Bloody diarrhea OMIM:619398
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Elevated plasma citrulline, Hypermethioninemia, Failure to thrive, Hyperbil... OMIM:605814
Hirschsprung Disease, Susceptibility To, 1
Abnormality of enteric ganglion morphology, Constipation, Aganglionic megacolon, Abdominal disten... OMIM:142623
Hypervitaminosis A, Susceptibility To
Hypercalcemia OMIM:240150
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Hyperaldosteronism, Enuresis, Polyuria, Renal salt wasting, Renal sodium wasting, Polydipsia, Ren... OMIM:612780
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
East Syndrome
Polydipsia, Enuresis, Renal salt wasting, Renal sodium wasting, Abnormal urinary electrolyte conc... ORPHA:199343
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia OMIM:615883
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Pseudomyxoma Peritonei
Constipation, Inflammation of the large intestine, Nausea and vomiting, Abdominal pain, Lymphaden... ORPHA:26790
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Hypoalbuminemia ORPHA:88643
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Immune Thrombocytopenia
Bruising susceptibility, Petechiae, Gastrointestinal hemorrhage, Gingival bleeding, Cerebral hemo... ORPHA:3002
Inflammatory Bowel Disease 25, Autosomal Recessive
Rectovaginal fistula, Pancolitis, Enterocutaneous fistula, Enterocolitis, Perianal abscess, Folli... OMIM:612567
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Angioma, Hereditary Neurocutaneous
Gastrointestinal hemorrhage OMIM:106070
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
5-Oxoprolinase Deficiency
Abdominal pain, Enterocolitis, Diarrhea, Vomiting OMIM:260005
Glanzmann Thrombasthenia 1
Bruising susceptibility, Gastrointestinal hemorrhage, Purpura, Menorrhagia, Gingival bleeding, Pr... OMIM:273800
Giant platelet syndrome with thrombocytopenia
Prolonged bleeding after dental extraction, Bruising susceptibility, Gastrointestinal hemorrhage OMIM:137560
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Hypoalbuminemia OMIM:600351
Apparent Mineralocorticoid Excess
Abnormality of circulating cortisol level, Nephrocalcinosis, Abnormal urine sodium concentration,... ORPHA:320
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Bernard-Soulier Syndrome
Epistaxis, Gastrointestinal hemorrhage, Purpura, Menorrhagia, Gingival bleeding, Prolonged bleedi... OMIM:231200
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Splenomegaly, Failure to thrive, Malabsorption, Abnormal bleeding ORPHA:79301
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
+173470 integrin, beta-3
Bruising susceptibility, Gastrointestinal hemorrhage, Purpura, Menorrhagia, Gingival bleeding, Ab... OMIM:173470
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia, Polyuria, Megacystis OMIM:125800
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia, Polyuria, Megacystis OMIM:304800
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Small for gestational age, Hypercholesterolemia, Obesity, Hypoal... ORPHA:86816
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Ménétrier Disease
Nausea, Weight loss, Gastrointestinal hemorrhage, Giant hypertrophic gastritis, Helicobacter pylo... ORPHA:2494
Congenital Factor Xi Deficiency
Gastrointestinal hemorrhage, Menorrhagia, Prolonged bleeding after dental extraction, Joint hemor... ORPHA:329
Vascular Hyalinosis
Hematochezia, Malabsorption, Protein-losing enteropathy, Subarachnoid hemorrhage, Diarrhea OMIM:277175
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Urinary retention, Nephrolithiasis, Acute kidney injury, Proteinuria, Dysuria, Macrosco... ORPHA:976
Hypomagnesemia, Seizures, And Mental Retardation 2
Renal magnesium wasting, Renal potassium wasting, Polyuria OMIM:618314
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:614817
Oligomeganephronia
Unilateral renal agenesis, Abnormality of medullary pyramid morphology, Decreased numbers of neph... ORPHA:2260
Blue Diaper Syndrome
Hyperphosphatemia, Increased body weight, Hypercalcemia ORPHA:94086
Nephrotic Syndrome, Type 1
Small for gestational age, Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Congenital Disorder Of Glycosylation, Type Iio
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Decreased circulating c... OMIM:616828
Hemophilia A With Vascular Abnormality
Persistent bleeding after trauma, Bruising susceptibility, Capillary fragility, Gastrointestinal ... OMIM:306800
Immunodeficiency 76
Recurrent pneumonia, Colitis, Splenomegaly, Chronic diarrhea, Lymphadenopathy OMIM:619164
Hemophilia A
Splenic rupture, Gastrointestinal hemorrhage, Oral cavity bleeding, Joint hemorrhage, Bleeding wi... ORPHA:98878
Congenital Factor Vii Deficiency
Epistaxis, Bruising susceptibility, Gastrointestinal hemorrhage, Menorrhagia, Gingival bleeding, ... ORPHA:327
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia ORPHA:158048
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Failure to thrive, Hypercalcemia OMIM:239199
Isolated Polycystic Liver Disease
Feeding difficulties in infancy, Gastrointestinal hemorrhage, Gastroesophageal reflux, Abdominal ... ORPHA:2924
Bardet-Biedl Syndrome 9
Polyphagia, Polydipsia, Renal insufficiency OMIM:615986
Hemophilia B
Persistent bleeding after trauma, Gastrointestinal hemorrhage, Osteoarthritis, Joint hemorrhage, ... OMIM:306900
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Colitis, Recurrent aphthous stomatitis, Recurrent sinusitis, Perioral eczema, Diarrhea OMIM:613960
Hypercalcemia, Infantile, 1
Hypercalciuria, Polyuria, Nephrocalcinosis, Nephrolithiasis OMIM:143880
Neuroendocrine Tumor Of The Rectum
Hematochezia, Bloody diarrhea, Weight loss, Constipation, Protracted diarrhea, Hypotension, Anore... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hematochezia, Bloody diarrhea, Weight loss, Constipation, Protracted diarrhea, Hypotension, Anore... ORPHA:100082
Helix Syndrome
Nephrolithiasis, Polyuria, Renal insufficiency, Polydipsia, Hypocalciuria OMIM:617671
Prothrombin Deficiency, Congenital
Bruising susceptibility, Ecchymosis, Gastrointestinal hemorrhage, Menorrhagia, Gingival bleeding,... OMIM:613679
Ganglioneuroma
Colorectal polyposis, Gastrointestinal hemorrhage, Multiple intestinal neurofibromatosis, Hamarto... ORPHA:251992
Central Diabetes Insipidus
Polydipsia, Nocturia ORPHA:178029
Nephrogenic Diabetes Insipidus
Hydroureter, Enuresis nocturna, Functional abnormality of the bladder, Hyposthenuria, Renal insuf... ORPHA:223
Visceral Myopathy 2
Hiatus hernia, Megaduodenum, Intestinal malrotation, Gastroesophageal reflux, Intestinal obstruct... OMIM:619350
Hyperphosphatemia, Polyuria, And Seizures
Polyuria OMIM:239350
Congenital Factor X Deficiency
Abnormal umbilical stump bleeding, Bruising susceptibility, Epistaxis, Gastrointestinal hemorrhag... ORPHA:328
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Burkitt Lymphoma
Gastrointestinal hemorrhage, Nausea and vomiting, Abdominal pain, Abnormality of the spleen, Abno... ORPHA:543
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Acute kidney injury, Proteinuria, Hypercholesterolemia, Abnormal glo... ORPHA:567548
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:612526
Cystinosis
Renal tubular dysfunction, Proteinuria, Aminoaciduria, Nephropathy, Renal insufficiency, Polydipsia ORPHA:213
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Bardet-Biedl Syndrome 17
Renal cyst, Micropenis, Polyuria, Polydipsia, Stage 5 chronic kidney disease OMIM:615994
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Bartter Syndrome, Type 3
Impaired reabsorption of chloride, Hyperaldosteronism, Polyuria, Renal salt wasting, Renal potass... OMIM:607364
Congenital Lethal Erythroderma
Failure to thrive, Hypoalbuminemia ORPHA:1954
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Abdominal distention, Protein-losing enteropathy, Diarrhea, Weight loss ORPHA:103910
Growth Hormone Insensitivity Syndrome
Failure to thrive, Truncal obesity, Hypercholesterolemia ORPHA:181393
Congenital Factor Xiii Deficiency
Persistent bleeding after trauma, Bruising susceptibility, Hepatic failure, Spontaneous hematomas... ORPHA:331
Eosinophilic Gastroenteritis
Hematochezia, Abnormality of the gastrointestinal tract, Weight loss, Abdominal pain, Allergic rh... ORPHA:2070
Immunodeficiency, Common Variable, 11
Failure to thrive, Crohn's disease, Mucoid diarrhea, Inflammation of the large intestine OMIM:615767
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Citrullinemia Type Ii
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Elevated plasma citrulline, Decreased body... ORPHA:247585
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Rhabdoid Tumor
Weight loss, Hypercalcemia ORPHA:69077
Hypophosphatasia
Failure to thrive in infancy, Hypercalcemia ORPHA:436
Uremic Pruritus
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia ORPHA:94059
Familial Hyperaldosteronism Type Iii
Hypercalciuria, Polydipsia, Glucocortocoid-insensitive primary hyperaldosteronism ORPHA:251274
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Decreased glomerular filtration rate, Polyuria, Renal salt wasting, Hypernatriuria, Renal insuffi... OMIM:613090
Lymphoproliferative Syndrome, X-Linked, 2
Recurrent skin infections, Erythema nodosum, Colitis, Splenomegaly, Acne, Inflammation of the lar... OMIM:300635
Familial Isolated Hyperparathyroidism
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:99879
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Temple Syndrome
Small for gestational age, Hypercholesterolemia, Overweight, Truncal obesity, Hypertriglyceridemia OMIM:616222
Malignant Atrophic Papulosis
Gastrointestinal infarctions, Constrictive pericarditis, Gastrointestinal hemorrhage OMIM:602248
Refractory Celiac Disease
Hypoproteinemia, Hypocalcemia, Hypophosphatemia, Hypoalbuminemia, Hypomagnesemia, Weight loss ORPHA:398063
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Failure to thrive, I... OMIM:267700
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Failure to thrive, Hypoalbuminemia OMIM:617156
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Nephrolithiasis, Hematuria, Renal insufficiency OMIM:614723
Diverticulosis, Small-Intestinal
Jejunal diverticula, Rheumatoid arthritis, Thyroiditis, Jejunoileal diverticula, Ulcerative colit... OMIM:223320
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Reduced renal corticomedullary differentiation, Decreased glomerular filtration rate, Global glom... OMIM:602522
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94090
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Fetal And Neonatal Alloimmune Thrombocytopenia
Petechiae, Ecchymosis, Gastrointestinal hemorrhage, Purpura, Subarachnoid hemorrhage, Melena, Abn... ORPHA:853
Budd-Chiari Syndrome
Portal hypertension, Gastrointestinal hemorrhage, Peritonitis, Cholecystitis, Splenomegaly, Esoph... ORPHA:131
Nk-Cell Enteropathy
Hematochezia, Gastric ulcer, Intestinal polyp, Constipation, Gastroesophageal reflux, Colonic div... ORPHA:263665
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Decreased circulating renin level, Decreased serum creatinine OMIM:300539
Hereditary Central Diabetes Insipidus
Polydipsia ORPHA:30925
Hyperparathyroidism, Neonatal Severe
Hypercalciuria, Polyuria, Hyperphosphaturia, Aminoaciduria, Polydipsia OMIM:239200
Combined Deficiency Of Factor V And Factor Viii
Epistaxis, Bruising susceptibility, Gastrointestinal hemorrhage, Menorrhagia, Prolonged bleeding ... ORPHA:35909
Asthma, Nasal Polyps, And Aspirin Intolerance
Nasal polyposis OMIM:208550
Drug-Induced Lupus Erythematosus
Increased blood urea nitrogen, Elevated circulating C-reactive protein concentration, Elevated ci... ORPHA:231111
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Arrhythmia, Congestive heart failure, Macroglossia, Dysphagia, Abnor... ORPHA:85446
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Primary Unilateral Adrenal Hyperplasia
Glucocortocoid-insensitive primary hyperaldosteronism, Polydipsia, Increased urinary potassium ORPHA:231580
Von Willebrand Disease, Type 1
Gastrointestinal angiodysplasia, Persistent bleeding after trauma, Bruising susceptibility, Epist... OMIM:193400
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Hypocalcemia, Elevated circulating creatinine concentration OMIM:179800
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Colitis, Minimal change glomerulonephritis OMIM:617006
Severe Hemophilia A
Persistent bleeding after trauma, Bruising susceptibility, Epistaxis, Gastrointestinal hemorrhage... ORPHA:169802
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Distal Renal Tubular Acidosis
Renal cyst, Nephrocalcinosis, Hypermagnesiuria, Nephrolithiasis, Hypocitraturia, Hypercalciuria, ... ORPHA:18
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Proteinuria, Polyuria, Chronic kidney disease, Renal salt wasting, Hyperechogenic kidneys OMIM:613845
Glucose-Galactose Malabsorption
Hypernatremia, Failure to thrive, Weight loss, Hypercalcemia ORPHA:35710
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Obesity, Hyperphosphatemia OMIM:603233
Progressive Familial Intrahepatic Cholestasis
Failure to thrive, Hypocalcemia ORPHA:172
Amelogenesis Imperfecta, Type Ig
Nephrocalcinosis, Polyuria, Enuresis, Renal insufficiency, Impaired renal concentrating ability OMIM:204690
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Decreased circulating apolipoprotein C-II concen... OMIM:207750
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:277460
Juvenile Nephropathic Cystinosis
Glycosuria, Renal Fanconi syndrome, Proteinuria, Proximal tubulopathy, Chronic kidney disease, Lo... ORPHA:411634
Moderate Hemophilia A
Gastrointestinal hemorrhage, Subcutaneous hemorrhage, Prolonged bleeding after dental extraction,... ORPHA:169805
Typhoid
Cardiac arrest, Gastrointestinal hemorrhage, Arrhythmia, Constipation, Infectious encephalitis, S... ORPHA:99745
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
2P21 Microdeletion Syndrome
Failure to thrive, Hypocalcemia, Cystinuria ORPHA:163693
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Gitelman Syndrome
Polydipsia, Enuresis, Polyuria, Nocturia, Renal magnesium wasting, Renal potassium wasting, Salt ... OMIM:263800
Epidermolysis Bullosa Acquisita
Abdominal pain, Inflammation of the large intestine ORPHA:46487
Senior-Boichis Syndrome
Reduced renal corticomedullary differentiation, Abnormal renal insterstitial morphology, Renal hy... ORPHA:84081
Periodic Fever, Familial, Autosomal Dominant
Erysipelas, Myositis, Gastrointestinal hemorrhage, Maculopapular exanthema, Chronic diarrhea, Cer... OMIM:142680
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Radiation Proctitis
Hematochezia, Rectal fistula, Rectal abscess, Abnormality of gastrointestinal vasculature, Arteri... ORPHA:70475
Carney-Stratakis Syndrome
Gastrointestinal stroma tumor, Gastrointestinal hemorrhage, Abdominal pain, Dysphagia, Intestinal... ORPHA:97286
Juvenile Polyposis Syndrome
Hematochezia, Colon cancer, Intussusception, Rectal prolapse, Abdominal pain, Failure to thrive, ... OMIM:174900
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Fundic gland polyposis, Abdominal pain, Gastric adenocarcinoma, Melena OMIM:619182
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Obesity, Hypercalcemia ORPHA:251004
Preeclampsia
Elevated circulating creatinine concentration, Small for gestational age ORPHA:275555
Proximal Renal Tubular Acidosis
Glycosuria, Nephrocalcinosis, Nephrolithiasis, Hyperuricosuria, Hypercalciuria, Bicarbonaturia, G... ORPHA:47159
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration, Small for gestational age OMIM:616733
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Neoplasm of the rectum, Neoplasm of the liver, Rectal prolapse, Abdominal pain, An... ORPHA:424019
Oculocerebrodental Syndrome
Hypocalcemia, Hypercalcemia ORPHA:557003
Immunodeficiency 37
Colitis, Infectious encephalitis OMIM:616098
Linear Iga Dermatosis
Epistaxis, Inflammation of the large intestine ORPHA:46488
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Sterile arthritis, Hepatosplenomegaly, Colitis, Acne, Cystic acne, Arthritis OMIM:604416
Non-Functioning Paraganglioma
Weight loss, Hypercalcemia ORPHA:94080
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Small for gestational age, Hypocalcemia, Obesity, Overweight, Elevated circulati... ORPHA:26793
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Bloody diarrhea, Colonic atresia, Intestinal malrotation, Interface hepatitis, Inte... OMIM:243150
Secondary Short Bowel Syndrome
Small intestinal dysmotility, Weight loss, Constipation, Aganglionic megacolon, Abnormality of th... ORPHA:95427
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Saccharopinuria
Hyperlysinemia, Cystinuria, Abnormality of circulating enzyme level, Hyperlysinuria, Elevated pla... ORPHA:3124
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia OMIM:208920
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Hematochezia, Adenomatous colonic polyposis, Small intestinal polyposis, Multiple gastric polyps,... ORPHA:329971
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Polydipsia, Hyperaldosteronism, Nephrolithiasis ORPHA:369929
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612926
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Obesity, Hypercholesterolemia ORPHA:254531
Bartter Syndrome, Type 5, Antenatal, Transient
Hypercalciuria, Polyuria, Medullary nephrocalcinosis OMIM:300971
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Elevated alpha-fetoprotein, Hypoalbuminemia, ... ORPHA:64753
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Hereditary Mixed Polyposis Syndrome
Colorectal polyposis, Hematochezia, Neoplasm of the gastrointestinal tract, Colon cancer, Intussu... ORPHA:157794
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Colitis, Splenomegaly, Recurrent sinusitis, Lymphadenopathy OMIM:613101
Autoinflammation With Infantile Enterocolitis
Feeding difficulties in infancy, Diffuse alveolar hemorrhage, Splenomegaly, Failure to thrive, En... OMIM:616050
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia OMIM:146200
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Dengue Fever
Bruising susceptibility, Petechiae, Gastrointestinal hemorrhage, Gingival bleeding, Hypotension, ... ORPHA:99828
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypocalcemia, Hypoalbuminemia, Hypomagnesemia, Weight loss ORPHA:90362
Morgagni-Stewart-Morel Syndrome
Obesity, Hypercholesterolemia, Hyperuricemia ORPHA:77296
Gastrointestinal Stromal Tumor
Gastrointestinal stroma tumor, Esophageal neoplasm, Neoplasm of the gastrointestinal tract, Gastr... ORPHA:44890
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia OMIM:612089
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hematochezia, Gastrointestinal carcinoma, Anorexia, Hamartomatous polyposis, Abdominal pain, Mala... OMIM:175500
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Increased circulating renin level, Hypocalcemia, Hyperphosphatemia, Hypomagnesemia OMIM:601198
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating gamma-aminobutyric acid concentration, Hypocalcemia OMIM:619658
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Failure to thrive, Hypercalcemia OMIM:241500
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration OMIM:607665
Hermansky-Pudlak Syndrome 1
Hematochezia, Bruising susceptibility, Ecchymosis, Colitis, Gingival bleeding, Inflammation of th... OMIM:203300
Infantile Nephropathic Cystinosis
Glycosuria, Renal Fanconi syndrome, Renal tubular dysfunction, Hyperphosphaturia, Low-molecular-w... ORPHA:411629
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Arthritis, Colitis, Inflammation of the large intestine, Eczema, Failure to thrive, Dysphagia, Ch... OMIM:608809
Alg6-Cdg
Failure to thrive, Hypoalbuminemia, Decreased LDL cholesterol concentration ORPHA:79320
Omenn Syndrome
Failure to thrive, Hypoproteinemia OMIM:603554
Mpi-Cdg
Portal hypertension, Gastrointestinal hemorrhage, Decreased liver function, Failure to thrive, Pr... ORPHA:79319
Desmoid Tumor
Gastrointestinal hemorrhage, Desmoid tumors, Abdominal pain, Malabsorption, Intestinal polyposis,... ORPHA:873
Immunodeficiency 57 With Autoinflammation
Gastritis, Bronchiectasis, Inflammation of the large intestine, Failure to thrive, Perianal absce... OMIM:618108
Anosmia For Isobutyric Acid
Partial anosmia OMIM:207000
Triokinase And Fmn Cyclase Deficiency Syndrome
Failure to thrive in infancy, Hypoalbuminemia OMIM:618805
Thymic Neuroendocrine Tumor
Hypercalcemia, Weight loss, Increased circulating cortisol level ORPHA:97289
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Budd-Chiari syndrome, Cerebral is... OMIM:263300
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Arthritis, Peritonitis, Recurrent aphthous stomatitis, Abdominal pai... ORPHA:343
Immunodeficiency 60 And Autoimmunity
Crohn's disease, Colitis, Splenomegaly, Chronic diarrhea, Bronchiectasis, Ulcerative colitis OMIM:618394
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Failure to thrive, H... OMIM:603553
Familial Cold Urticaria
Polydipsia ORPHA:47045
Acquired Von Willebrand Syndrome
Gastrointestinal angiodysplasia, Persistent bleeding after trauma, Bruising susceptibility, Aorti... ORPHA:99147
Familial Hyperaldosteronism Type I
Polydipsia, Dexamethasone-suppressible primary hyperaldosteronism ORPHA:403
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Elevated alpha-fetoprotein, Abnormal circulating serine concentration, Hyperly... ORPHA:247598
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Galloway-Mowat Syndrome 6
Decreased body weight, Hypoalbuminemia OMIM:618347
Peutz-Jeghers Syndrome
Esophageal neoplasm, Abnormality of the gastrointestinal tract, Gastrointestinal carcinoma, Gastr... ORPHA:2869
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Bleeding Disorder, Platelet-Type, 17
Bruising susceptibility, Petechiae, Ecchymosis, Gastrointestinal hemorrhage, Prolonged bleeding t... OMIM:187900
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Bleeding Disorder, Platelet-Type, 12
Bruising susceptibility, Menorrhagia, Intestinal bleeding, Joint hemorrhage, Epistaxis OMIM:605735
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Anosmia For Butyl Mercaptan
Anosmia OMIM:270350
Anosmia, Isolated Congenital, X-Linked
Anosmia OMIM:301700
Anosmia, Isolated Congenital
Anosmia OMIM:107200
Isovaleric Acid, Inability To Smell
Anosmia OMIM:243450
Galactokinase Deficiency
Hypergalactosemia, Small for gestational age, Hypercholesterolemia, Failure to thrive, Increased ... ORPHA:79237
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypoalbuminemia OMIM:226300
Trichohepatoenteric Syndrome 2
Small for gestational age, Colitis, Failure to thrive, Hepatitis, Villous atrophy, Diarrhea OMIM:614602
Polycythemia Vera
Bruising susceptibility, Portal hypertension, Gastrointestinal hemorrhage, Gingival bleeding, Pul... ORPHA:729
Hereditary Amyloidosis With Primary Renal Involvement
Intestinal perforation, Nausea, Petechiae, Abnormality of the gastrointestinal tract, Gastrointes... ORPHA:85450
Cryoglobulinemic Vasculitis
Viral hepatitis, Petechiae, Gastrointestinal hemorrhage, Splenomegaly, Abdominal pain, Keratoconj... ORPHA:91138
Immunodeficiency 14B, Autosomal Recessive
Recurrent pneumonia, Colitis, Chronic diarrhea, Inflammation of the large intestine, Recurrent si... OMIM:619281
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Renal agenesis, Horseshoe kidney, Renal Fanconi syndrome, Acute kidney injury, Multicystic kidney... ORPHA:93111
Autoimmune Hepatitis
Spider hemangioma, Viral hepatitis, Sclerosing cholangitis, Gastrointestinal hemorrhage, Glomerul... ORPHA:2137
Laron Syndrome
Truncal obesity, Hypercholesterolemia ORPHA:633
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Colitis, Skin rash, Ileal ulcer, Anterior uveitis OMIM:616744
Aggressive Systemic Mastocytosis
Portal hypertension, Gastrointestinal hemorrhage, Hepatosplenomegaly, Weight loss, Maculopapular ... ORPHA:98850
Immunodeficiency 70
Achalasia, Colitis, Recurrent sinusitis, Celiac disease, Furuncle OMIM:618969
Bernard-Soulier Syndrome
Bruising susceptibility, Petechiae, Gastrointestinal hemorrhage, Menorrhagia, Prolonged bleeding ... ORPHA:274
Microscopic Polyangiitis
Sinusitis, Uveitis, Gastrointestinal hemorrhage, Arrhythmia, Congestive heart failure, Arthritis,... ORPHA:727
Bartter Syndrome, Type 2, Antenatal
Hyperaldosteronism, Nephrocalcinosis, Hyposthenuria, Hypercalciuria, Polyuria, Renal salt wasting... OMIM:241200
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia OMIM:608093
Oculoskeletodental Syndrome
Small for gestational age, Hypocalcemia, Hypercalcemia OMIM:618440
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Proximal tubulopathy, Polyuria OMIM:560000
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Increased blood urea nitrogen, Hyperlipidemia, Elevated circulating creatinine concentration OMIM:235400
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Persistent bleeding after trauma, Epistaxis, Gastrointestinal hemorrhage, Subcutaneous hemorrhage... ORPHA:465
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hypoalbuminemia OMIM:602579
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Acute Adrenal Insufficiency
Hyponatremia, Hypercalcemia, Increased circulating renin level, Hyperkalemia, Decreased circulati... ORPHA:95409
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Hepatosplenomegaly, Lymphadenitis, Pneumonia, Colitis, Chron... ORPHA:911
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Esophageal varix, Retinal telangiectasia, Portal hypertension, Gastrointestinal hemorrhage OMIM:617341
Cystinosis, Nephropathic
Glycosuria, Generalized aminoaciduria, Renal Fanconi syndrome, Nephrolithiasis, Proteinuria, Poly... OMIM:219800
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Hypertriglyceridemia OMIM:619013
Esophagitis, Eosinophilic, 1
Esophagitis, Failure to thrive, Dysphagia, Vomiting OMIM:610247
Esophagitis, Eosinophilic, 2
Esophagitis, Failure to thrive, Dysphagia, Vomiting OMIM:613412
Polymyositis
Dilated cardiomyopathy, Weight loss, Gastrointestinal hemorrhage, Arrhythmia, Congestive heart fa... ORPHA:732
Abdominal Obesity-Metabolic Syndrome 3
Abdominal obesity, Truncal obesity, Hypercholesterolemia OMIM:615812
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypercalcemia, Decreased circulating cortisol level, Hyperuricemia, Failure to thri... ORPHA:199299
Immunodeficiency 27A
Weight loss, Hypoalbuminemia OMIM:209950
Ebola Hemorrhagic Fever
Nausea, Acute pancreatitis, Gastrointestinal hemorrhage, Maculopapular exanthema, Abdominal pain,... ORPHA:319218
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Failure to thrive, Vasculitis, Lymphadenopathy, Inflammation of the large intestine OMIM:617718
Immunodeficiency, Common Variable, 8, With Autoimmunity
Recurrent otitis media, Recurrent pneumonia, Uveitis, Pneumonia, Erythema nodosum, Arthritis, Col... OMIM:614700
Ciliary Dyskinesia With Excessively Long Cilia
Abnormal respiratory motile cilium morphology, Nasal polyposis, Chronic rhinitis, Recurrent bronc... OMIM:242680
Gastroesophageal Reflux
Esophagitis, Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux OMIM:109350
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypophosphatemia, Hypercalcemia OMIM:600740
Smith-Magenis Syndrome
Increased body weight, Hypertriglyceridemia, Hypercholesterolemia OMIM:182290
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Feeding difficulties in infancy, Nausea, Abnormal peristalsis, Vomiting, Gastroesophageal reflux,... ORPHA:411696
Congenital Disorder Of Glycosylation, Type Ih
Failure to thrive, Hypoalbuminemia OMIM:608104
Hereditary Renal Hypouricemia
Increased blood urea nitrogen, Hypouricemia, Hyperuricosuria ORPHA:94088
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Whipple Disease
Myositis, Uveitis, Gastrointestinal hemorrhage, Arthritis, Infectious encephalitis, Hypotension, ... ORPHA:3452
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia OMIM:156400
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Intestinal perforation, Hematochezia, Morphological abnormality of the gastrointestinal tract, Bl... ORPHA:464321
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine ORPHA:54057
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Cholangitis, Colitis, Protracted diarrhea, Infectious encephalitis, Failure to t... OMIM:209920
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Truncal obesity, Obesity, Small for gestational age, Hypercholesterolemia ORPHA:96184
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hypotension, Abdominal pain, Erythroderma, Malnutrition, Abnormality... ORPHA:79456
Mixed Connective Tissue Disease
Myositis, Gastrointestinal hemorrhage, Arthritis, Purpura, Gastroesophageal reflux, Myocarditis, ... ORPHA:809
Congenital Generalized Lipodystrophy
Failure to thrive, Increased C-peptide level, Hypertriglyceridemia, Hypercholesterolemia ORPHA:528
Zygomycosis
Nausea, Gastrointestinal hemorrhage, Hematemesis, Hepatitis, Pancreatitis, Fasciitis, Diarrhea, A... ORPHA:73263
Leptospirosis
Hyperproteinemia ORPHA:509
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Neuroendocrine Tumor Of The Colon
Bloody diarrhea, Weight loss, Protracted diarrhea, Hypotension, Anorexia, Abdominal pain, Chronic... ORPHA:100080
Blue Rubber Bleb Nevus
Intestinal bleeding, Volvulus, Gastrointestinal infarctions, Prolonged bleeding time, Skin rash ORPHA:1059
Hyperparathyroidism-Jaw Tumor Syndrome
Renal cyst, Nephrocalcinosis, Renal hamartoma, Nephrolithiasis, Hypercalciuria, Nephroblastoma, D... ORPHA:99880
Thrombotic Thrombocytopenic Purpura, Hereditary
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:274150
Juvenile Polyposis Of Infancy
Hematochezia, Gastrointestinal hemorrhage, Intussusception, High, narrow palate, Rectal prolapse,... ORPHA:79076
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Parathyroid Carcinoma
Renal cyst, Nephrocalcinosis, Renal hamartoma, Nephrolithiasis, Hypercalciuria, Nephroblastoma, D... ORPHA:143
Autoinflammation, Immune Dysregulation, And Eosinophilia
Hepatosplenomegaly, Eosinophilic liver infiltration, Colonic eosinophilia, Membranous nephropathy... OMIM:618999
Familial Hypocalciuric Hypercalcemia
Hypocalcemic seizures, Hypercalcemia, Infantile hypercalcemia, Hypermagnesemia, Renal hypophospha... ORPHA:405
46,Xy Sex Reversal 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:154230
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated alpha-fetoprotein, Hypercholesterolemia, Increased serum bile acid concentration, Conjug... OMIM:619662
Hypotonia-Cystinuria Syndrome
Failure to thrive, Hypocalcemia, Cystinuria OMIM:606407
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Colitis, Bone marrow hypocellularity OMIM:615190
Shigellosis
Intestinal perforation, Nausea, Hepatic failure, Uveitis, Failure to thrive in infancy, Bloody mu... ORPHA:810
Wiskott-Aldrich Syndrome
Blepharitis, Hematemesis, Otitis media, Hypoplasia of the thymus, Keratitis, Intracranial hemorrh... ORPHA:906
Bartter Syndrome, Type 1, Antenatal
Hyperaldosteronism, Nephrocalcinosis, Hyposthenuria, Hypercalciuria, Polyuria, Renal salt wasting... OMIM:601678
Hyperlipoproteinemia, Type I
Increased circulating chylomicron concentration, Hyperlipidemia, Lactescent serum, Hypercholester... OMIM:238600
Leishmaniasis
Weight loss, Hypoalbuminemia ORPHA:507
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:93324
Malignant Atrophic Papulosis
Intestinal perforation, Gastrointestinal hemorrhage, Peritonitis, Myocardial infarction, Arteriti... ORPHA:679
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Obesity, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia ORPHA:209902
Cog4-Cdg
Failure to thrive in infancy, Hypercholesterolemia ORPHA:263501
Cholestasis-Lymphedema Syndrome
Portal hypertension, Gastrointestinal hemorrhage, Splenomegaly, Nausea and vomiting, Abdominal pain ORPHA:1414
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia OMIM:235255
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Abnormal circulating protein concentration ORPHA:86839
Sporadic Pheochromocytoma/Secreting Paraganglioma
Weight loss, Hypercalcemia ORPHA:276621
Nephronophthisis 2
Hyperkalemia, Elevated circulating creatinine concentration OMIM:602088
Addison Disease
Hyponatremia, Hypercalcemia, Increased circulating renin level, Hyperkalemia, Decreased circulati... ORPHA:85138
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration OMIM:613095
Panhypophysitis
Polydipsia, Decreased circulating cortisol level, Hyposthenuria ORPHA:95513
Ring Chromosome 10 Syndrome
Hypocalcemia, Cachexia ORPHA:1438
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Nephrotic Syndrome, Type 14
Hypoalbuminemia, Hypertriglyceridemia OMIM:617575
Johanson-Blizzard Syndrome
Failure to thrive, Hypoproteinemia ORPHA:2315
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Glomerular sclerosis, Decreased glomerular filtration rate, Renal hypoplasia, Renal salt wasting,... OMIM:174000
9Q31.1Q31.3 Microdeletion Syndrome
Overweight, Hypercholesterolemia ORPHA:401923
Classical-Like Ehlers-Danlos Syndrome Type 1
Bruising susceptibility, Gastrointestinal hemorrhage, Arrhythmia ORPHA:230839
Wolfram Syndrome
Dysuria, Recurrent urinary tract infections, Abnormality of the urinary system, Nephropathy, Poly... ORPHA:3463
Hereditary Hemorrhagic Telangiectasia
Hepatic failure, Portal hypertension, Gastrointestinal hemorrhage, Mucosal telangiectasiae, Conge... ORPHA:774
Autoimmune Hypoparathyroidism
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:36913
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypocalcemia, Hypoalbuminemia, Hypertriglyceridemia, Hypomagnesemia OMIM:618183
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Failure to thrive in infancy, Membranous nephropathy, Hepatitis, Inflammatory abnormality of the ... ORPHA:37042
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
S-Adenosylhomocysteine Hydrolase Deficiency
Hyperhomocystinemia, Hypermethioninemia, Elevated circulating creatine kinase concentration, Abno... ORPHA:88618
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Failure to thrive, Hypercalcemia ORPHA:476126
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Crohn's disease, Recurrent pneumonia, Hepatosplenomegaly, Lymphadenitis, Acute pancreatitis, Sple... OMIM:618935
Immunodeficiency 58
Recurrent pneumonia, Helicobacter pylori infection, Cutaneous abscess, Colitis, Chronic diarrhea,... OMIM:618131
Primary Hyperoxaluria Type 3
Nephrocalcinosis, Hematuria, Dysuria, Abnormality of urine homeostasis, Abnormal renal physiology... ORPHA:93600
Carney Triad
Gastrointestinal stroma tumor, Gastrointestinal hemorrhage, Arrhythmia, Anorexia, Abdominal pain,... ORPHA:139411
Neuroendocrine Tumor Of Stomach
Hepatic failure, Protracted diarrhea, Hematemesis, Facial telangiectasia, Lack of bowel sounds, B... ORPHA:100075
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Hypoalbuminemia, Elevated circulating C-reactive pr... ORPHA:158061
Hepatoportal Sclerosis
Portal hypertension, Gastrointestinal hemorrhage, Hypersplenism, Splenomegaly, Esophageal varix, ... ORPHA:64743
Erdheim-Chester Disease
Dysuria, Hydronephrosis, Xanthelasma, Renal insufficiency, Polydipsia ORPHA:35687
Monosomy 13Q34
Obesity, Infantile hypercalcemia ORPHA:96168
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Peritonitis, Periodontitis, Cervical lymphadenopathy, Abdom... ORPHA:2686
Autoimmune Lymphoproliferative Syndrome, Type Iia
Petechiae, Gastrointestinal hemorrhage, Splenomegaly, Chronic noninfectious lymphadenopathy, Foll... OMIM:603909
Gitelman Syndrome
Renal tubular acidosis, Renal Fanconi syndrome, Decreased urinary potassium, Primary hyperaldoste... ORPHA:358