Gene Summary

Name:
G protein-coupled receptor 22
Synonyms:
2900068K05Rik

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
decreased erythrocyte cell number Gpr22tm1b(KOMP)Wtsi HOM Early adult 2.45×10-06
increased circulating phosphate level Gpr22tm1b(KOMP)Wtsi HOM Early adult 1.39×10-05
increased circulating creatinine level Gpr22tm1b(KOMP)Wtsi HOM Early adult 7.29×10-05
decreased circulating serum albumin level Gpr22tm1b(KOMP)Wtsi HOM Early adult 1.73×10-05
decreased total body fat amount Gpr22tm1b(KOMP)Wtsi HOM Early adult 5.94×10-06
increased circulating aspartate transaminase level Gpr22tm1b(KOMP)Wtsi HOM Early adult 3.09×10-12
increased circulating potassium level Gpr22tm1b(KOMP)Wtsi HOM Early adult 4.29×10-05
decreased hemoglobin content Gpr22tm1b(KOMP)Wtsi HOM Early adult 6.08×10-05
increased circulating alanine transaminase level Gpr22tm1b(KOMP)Wtsi HOM Early adult 2.60×10-09
increased lean body mass Gpr22tm1b(KOMP)Wtsi HOM Early adult 1.03×10-05
abnormal gait Gpr22tm1b(KOMP)Wtsi HOM Early adult 4.40×10-05
hyperactivity Gpr22tm1b(KOMP)Wtsi HOM   Early adult 9.01×10-10
decreased hematocrit Gpr22tm1b(KOMP)Wtsi HOM Early adult 3.97×10-05

Download data as:  TSV  XLS

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lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Esophagus  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Pituitary gland  Wholemount images heterozygote 100% (2 of 2)
Small intestine  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone 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)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract 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)
Oral epithelium 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)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peyer's patch 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)
Skin N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea 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 100% (3 of 3)
Brain N/A homozygote 100% (2 of 2)
Ear N/A heterozygote 0.0% (0 of 3)
Ear N/A homozygote 0.0% (0 of 2)
Embryo N/A heterozygote 100% (3 of 3)
Embryo N/A homozygote 100% (2 of 2)
Eye N/A heterozygote 0.0% (0 of 3)
Eye N/A homozygote 0.0% (0 of 2)
Footplate N/A heterozygote Not available
Footplate N/A homozygote 0.0% (0 of 2)
Forebrain N/A heterozygote 0.0% (0 of 3)
Forebrain N/A homozygote 100% (2 of 2)
Forelimb N/A heterozygote 0.0% (0 of 3)
Forelimb N/A homozygote 100% (2 of 2)
Handplate N/A heterozygote Not available
Handplate N/A homozygote 0.0% (0 of 2)
Head N/A heterozygote 100% (3 of 3)
Head N/A homozygote 100% (2 of 2)
Heart N/A heterozygote 100% (3 of 3)
Heart N/A homozygote 50% (1 of 2)
Hindbrain N/A heterozygote 100% (3 of 3)
Hindbrain N/A homozygote 100% (2 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 3)
Hindlimb N/A homozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 3)
Liver N/A homozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 3)
Lung N/A homozygote 0.0% (0 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 3)
Mandibular process N/A homozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 3)
Maxillary process N/A homozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 3)
Midbrain N/A homozygote 50% (1 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 3)
Oral cavity N/A homozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 3)
Skin N/A homozygote 0.0% (0 of 2)
Tail somite N/A heterozygote 0.0% (0 of 3)
Tail somite N/A homozygote 0.0% (0 of 2)
Tail N/A heterozygote 0.0% (0 of 3)
Tail N/A homozygote 0.0% (0 of 2)

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

31 Images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

Embryo LacZ

LacZ images wholemount

8 Images

Adult LacZ

LacZ Images Wholemount

11 Images

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

Auditory Brain Stem Response

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

4 Images

Human diseases caused by Gpr22 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 Gpr22 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Increased circulating ferritin concentration, Anemia ORPHA:231249
Hyperlysinemia, Type I
Anemia, Hyperactivity, Hyperlysinemia OMIM:238700
Focal Segmental Glomerulosclerosis 1
Anemia, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Ataxia, Steppage gait, Hypercholesterolemia OMIM:607250
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154275
Malignant Hyperthermia, Susceptibility To, 3
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154276
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Ataxia, Steppage gait, Hypercholesterolemia ORPHA:94124
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Hypoalbuminemia, Failure to thrive in infancy, Broad-based gait OMIM:618805
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:145600
Erythroderma, Lethal Congenital
Failure to thrive, Hypoalbuminemia OMIM:227090
Hemangioma-Thrombocytopenia Syndrome
Microangiopathic hemolytic anemia, Hyperkalemia, Thrombocytopenia OMIM:141000
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Increased circulating ferritin concentration, Elevated circulating C-reactive prote... OMIM:616050
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94090
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Obesity, Hyperphosphatemia OMIM:603233
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Analbuminemia
Lipodystrophy, Elevated circulating transferrin concentration, Hypercholesterolemia, Hypoalbumine... OMIM:616000
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Increased circulating renin level, Hypocalcemia, Hyperphosphatemia, Hypomagnesemia OMIM:601198
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Thrombocytosis, Splenomegaly, Anemia, Hypoalbumi... OMIM:209950
Refractory Celiac Disease
Microcytic anemia, Hypoproteinemia, Normocytic anemia, Hypocalcemia, Abnormal spleen physiology, ... ORPHA:398063
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Hypoalbuminemia ORPHA:88643
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Anemia, Hypoalbuminemia, ... ORPHA:507
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia OMIM:146200
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Leukopenia, Hemophag... OMIM:267700
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Blue Diaper Syndrome
Hyperphosphatemia, Increased body weight, Hypercalcemia ORPHA:94086
Hyperphosphatemia, Polyuria, And Seizures
Hyperphosphatemia OMIM:239350
Immunodeficiency 8
Hyperactivity, Lymphopenia OMIM:615401
Congenital Disorder Of Glycosylation, Type Ih
Anemia, Failure to thrive, Hypoalbuminemia, Camptodactyly, Thrombocytopenia OMIM:608104
Chylomicron Retention Disease
Hypotriglyceridemia, Failure to thrive, Hypoalbuminemia, Hypocholesterolemia, Decreased LDL chole... OMIM:246700
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Elevated circulating creati... ORPHA:232
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Neutropenia, Hypoproteinemia, Hypoalbuminemia OMIM:600351
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia, Inability to walk, Splenomegaly, Ataxia, Hemolytic anemia OMIM:608885
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hypocalcemia, Highly elevated creatine kinase, Hyperphosphatemia, Difficulty walking ORPHA:99845
Galloway-Mowat Syndrome 8
Hypoalbuminemia, Enamel hypoplasia OMIM:618349
Congenital Lethal Erythroderma
Failure to thrive, Hypoalbuminemia ORPHA:1954
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Failure to thrive, Hypoalbuminemia OMIM:617156
Eosinophilic Gastroenteritis
Eosinophilia, Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia, Hypoal... ORPHA:2070
Familial Pseudohyperkalemia
Hyperkalemia, Increased mean corpuscular volume, Stomatocytosis, Reticulocytosis, Episodic hemoly... ORPHA:90044
Hyperprolinemia, Type I
Hyperprolinemia, Hyperactivity, Prolinuria, Ataxia, Hydroxyprolinuria, Hyperglycinuria OMIM:239500
Rajab Interstitial Lung Disease With Brain Calcifications 2
Microcytic anemia, Hypoalbuminemia, Hepatosplenomegaly, Hypertriglyceridemia OMIM:619013
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Weight loss, Abnormal circulating protein conc... ORPHA:103910
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Hemophagocytosis, Elevated circulating C-reactive p... ORPHA:158061
Calciphylaxis
Cellulitis, Hyperphosphatemia ORPHA:280062
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Leukop... OMIM:603553
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Ataxia, Gait ataxia, Truncal ataxia, Hypoalbuminemia, Limb ataxia OMIM:208920
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Hyperphosphatasia With Mental Retardation Syndrome 3
Hyperphosphatemia OMIM:614207
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Alg6-Cdg
Failure to thrive, Ataxia, Hypoalbuminemia, Decreased LDL cholesterol concentration ORPHA:79320
Pseudohypoparathyroidism, Type Ic
Obesity, Hyperphosphatemia, Hypocalcemic tetany, Enamel hypoplasia OMIM:612462
Glycogen Storage Disease Due To Aldolase A Deficiency
Hyperkalemia, Elevated creatine kinase after exercise, Hemolytic anemia ORPHA:57
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Wolcott-Rallison Syndrome
Decreased body weight, Hyponatremia, Neutropenia, Iron deficiency anemia, Hyperbilirubinemia, Hyp... ORPHA:1667
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Autoimmune Hypoparathyroidism
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:36913
Hyperchlorhidrosis, Isolated
Hyperkalemia, Failure to thrive, Hyponatremia OMIM:143860
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Leukocytosis, Acute myeloid leukemia, Abnormal mean c... ORPHA:86839
Ménétrier Disease
Hypoproteinemia, Weight loss, Hypoalbuminemia, Hypochromic microcytic anemia ORPHA:2494
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Pseudohypoparathyroidism, Type Ia
Obesity, Hyperphosphatemia, Hypocalcemic tetany, Enamel hypoplasia OMIM:103580
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Small for gestational age, Hypocalcemia, Anemia, Hyperphosphatemia OMIM:127000
Neuroleptic Malignant Syndrome
Hyponatremia, Leukocytosis, Thrombocytosis, Hyperkalemia, Hypocalcemia, Hyperuricemia, Elevated c... ORPHA:94093
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Elevated circulating creatine kinase concentration, Hyperkalemia OMIM:268200
Preeclampsia
Thrombocytopenia, Elevated circulating creatinine concentration, Small for gestational age ORPHA:275555
Dent Disease 2
Elevated circulating creatine kinase concentration, Aminoaciduria, Umbilical hernia, Hypophosphat... OMIM:300555
Pseudohypoparathyroidism Type 1B
Hypocalcemic seizures, Enamel hypoplasia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic tetany ORPHA:94089
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated alpha-fetoprotein, Hypercholesterolemia, Ataxia, Elevated circulating creatine kinase co... ORPHA:64753
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal hypophosphatemia OMIM:241519
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Failure to thrive, Hyponatremia, Increased circulating renin level OMIM:203400
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia, Decreased serum creatinine ORPHA:54057
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Failure to thrive, Hyponatremia, Increased circulating renin level OMIM:610600
Congenital Enterovirus Infection
Abnormal macrophage morphology, Leukopenia, Leukocytosis, Neutropenia, Anemia, Hypoalbuminemia, T... ORPHA:292
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Decreased proportion of CD3-positive T cells, Hypocalcemia, Anemia, Hypoalbumine... ORPHA:90362
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk OMIM:616657
Paget Disease Of Bone 5, Juvenile-Onset
Macular scar, Hydroxyprolinuria, Hyperuricemia, Failure to thrive, Hydroxyprolinemia, Hyperphosph... OMIM:239000
Nephrotic Syndrome, Type 14
Hypoalbuminemia, Lymphopenia, Ataxia, Hypertriglyceridemia OMIM:617575
Galloway-Mowat Syndrome 6
Decreased body weight, Hypoalbuminemia OMIM:618347
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypoalbuminemia ORPHA:529799
Chronic Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hemolytic anemia, Hypernatremia, Hypoalbuminemia ORPHA:529808
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Anemia, Thrombocytopenia ORPHA:3319
Juvenile Polyposis Syndrome
Anemia, Hypokalemia, Hypoalbuminemia, Failure to thrive OMIM:174900
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia, Microangiop... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia, Microangiop... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia, Microangiop... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia, Microangiop... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia, Microangiop... OMIM:612926
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia ORPHA:231393
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia, HbH hemoglobin OMIM:613978
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... OMIM:613673
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Elevated transferrin saturation, Anis... ORPHA:766
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Hepatoportal Sclerosis
Leukopenia, Splenomegaly, Anemia, Hyperbilirubinemia, Hypoalbuminemia, Hypersplenism, Thrombocyto... ORPHA:64743
Congenital Analbuminemia
Lipodystrophy, Hypoproteinemia, Hyperlipidemia, Small for gestational age, Hypercholesterolemia, ... ORPHA:86816
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Failure to thrive in infancy, Anemia, Hyperbilirubinemia, Hyperammonemia, Decreased HDL cholester... ORPHA:247598
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Thrombocytosis, Iron deficiency anemia, Hypoproteinemia, Hypoalbuminemia OMIM:226300
Hyperkalemic Periodic Paralysis
Hypokalemia, Hyponatremia, Flexion contracture, Hyperkalemia, Elevated circulating creatine kinas... ORPHA:682
Azotemia, Familial
Azotemia OMIM:109160
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Generalized aminoaciduria, Splenomegaly, Failure to thrive, Hyperbilirubinemia, Hypoalbuminemia, ... OMIM:251880
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hypoalbuminemia OMIM:602579
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Hyperphosphatemia, Enamel hypoplasia OMIM:211900
Nephrotic Syndrome, Type 1
Small for gestational age, Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Failure to thrive, Hyponatremia, Increased circulating renin level OMIM:177735
Hypercalcemia, Infantile, 2
Failure to thrive, Hypophosphatemia, Hypercalcemia OMIM:616963
Citrullinemia Type Ii
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hyperactivity, Elevated plasma citrulline,... ORPHA:247585
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Neutropenia, Anemia... ORPHA:540
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Failure to thrive, Hyponatremia OMIM:614736
Tubulointerstitial Nephritis With Uveitis
Non-caseating epithelioid cell granulomatosis, Elevated circulating creatinine concentration OMIM:607665
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Failure to thrive, Hyponatremia, Increased circulating renin level ORPHA:556037
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Saccharopinuria
Hyperlysinemia, Cystinuria, Abnormality of circulating enzyme level, Hyperlysinuria, Elevated pla... ORPHA:3124
Relapsing Fever
Leukopenia, Elevated circulating creatinine concentration, Leukocytosis, Neutrophilia, Elevated c... ORPHA:91547
Pseudohypoaldosteronism Type 2
Hyperkalemia, Abnormal dental enamel morphology ORPHA:757
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Hyperkalemia, Hyperphosphatemia ORPHA:423
Mucopolysaccharidosis-Plus Syndrome
Leukopenia, Flexion contracture, Inability to walk, Splenomegaly, Neutropenia, Anemia, Hypoalbumi... OMIM:617303
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Hypophosphatemia OMIM:241520
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Hypocalcemia, Hypophosphatemia ORPHA:89937
Beta-Thalassemia
Microcytic anemia, Splenomegaly, Abnormality of iron homeostasis, Anemia, Abnormal hemoglobin, Th... ORPHA:848
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Failure to thrive, Hyponatremia, Increased circulating renin level ORPHA:556030
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Birk-Landau-Perez Syndrome
Hyperkalemia, Difficulty walking, Ataxia OMIM:617595
Sanjad-Sakati Syndrome
Hypocalcemia, Abnormal dental enamel morphology, Hyperphosphatemia ORPHA:2323
Coenzyme Q10 Deficiency, Primary, 8
Flexion contracture, Elevated circulating creatinine concentration, Small for gestational age OMIM:616733
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Mpi-Cdg
Failure to thrive, Hypoalbuminemia ORPHA:79319
Abetalipoproteinemia
Dysmetria, Decreased LDL cholesterol concentration, Hypotriglyceridemia, Ataxia, Steppage gait, A... ORPHA:14
Amoebiasis Due To Entamoeba Histolytica
Anemia, Leukocytosis, Weight loss, Hypoalbuminemia ORPHA:67
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Decreased circulating renin level, Decreased serum creatinine OMIM:300539
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Dehydrated Hereditary Stomatocytosis
Increased circulating ferritin concentration, Schistocytosis, Reticulocytosis, Macrocytic anemia,... ORPHA:3202
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Schistocytosis, Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood ur... OMIM:235400
Congenital Disorder Of Glycosylation, Type Ia
Flexion contracture, Thrombocytosis, Ataxia, Abnormal subcutaneous fat tissue distribution, Failu... OMIM:212065
Bacterial Toxic-Shock Syndrome
Increased circulating metamyelocyte count, Cellulitis, Elevated circulating creatinine concentrat... ORPHA:36234
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Obesity, Hyperphosphatemia ORPHA:457059
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Hypocalcemia, Ataxia, Elevated circulating creatine kinase concentration, Hyperphos... ORPHA:466650
Fanconi-Bickel Syndrome
Generalized aminoaciduria, Hypokalemia, Reduced subcutaneous adipose tissue, Hypouricemia, Failur... OMIM:227810
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased serum zinc, Decreased body weight, Flexion contracture, Atypical scarring of skin, Decr... ORPHA:89842
Thrombotic Thrombocytopenic Purpura, Hereditary
Schistocytosis, Elevated circulating creatinine concentration, Increased blood urea nitrogen, Ret... OMIM:274150
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia, Hepatosplenomegaly, Failure to thrive, Hemolytic anemia, Reticulocytosis, Decreased ... OMIM:611590
S-Adenosylhomocysteine Hydrolase Deficiency
Hyperhomocystinemia, Hypermethioninemia, Elevated circulating creatine kinase concentration, Abno... ORPHA:88618
Pseudohypoaldosteronism, Type Iia
Hyperkalemia OMIM:145260
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Ataxia, Hypertriglyceridemia OMIM:615924
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Hypocalcemia, Elevated circulating creatinine concentration OMIM:179800
Autosomal Dominant Kenny-Caffey Syndrome
Anemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:93325
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating beta-C-terminal telopeptide level, Hypophosphatemic rickets, Waddling gait,... ORPHA:157215
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Failure to thrive in infancy, Increased circulating renin level, Hyperkalemia, Weig... ORPHA:171876
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Diffuse Alveolar Hemorrhage
Leukocytosis, Elevated circulating creatinine concentration, Anemia, Thrombocytopenia, Weight loss ORPHA:90060
Hemorrhagic Fever-Renal Syndrome
Decreased body weight, Leukocytosis, Elevated circulating creatinine concentration, Hyperkalemia,... ORPHA:340
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Failure to thrive, Hepatosplenomegaly, Hypoalbuminemia, Flexion contracture ORPHA:367
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperkalemia, Failure to thrive, Hyponatremia OMIM:264350
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia OMIM:240200
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Failure to thriv... ORPHA:37042
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Splenomegaly, Anemia, Aminoaciduria, Calcinosis, Failure to thrive, Hypophosphatemia OMIM:239200
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglyceridemia, Hypercholesterol... ORPHA:567548
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Avian Influenza
Leukopenia, Elevated circulating C-reactive protein concentration, Elevated circulating creatine ... ORPHA:454836
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Hypophosphatemia OMIM:193100
Pseudohypoparathyroidism Type 1C
Hypocalcemic seizures, Enamel hypoplasia, Hypocalcemia, Obesity, Calcinosis, Hyperphosphatemia, H... ORPHA:79444
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
C3 Glomerulopathy
Lipodystrophy, Elevated circulating creatinine concentration ORPHA:329918
Hepatocellular Carcinoma
Hypokalemia, Hyponatremia, Hypercalcemia, Thrombocytosis, Anemia, Hyperbilirubinemia, Hypoalbumin... ORPHA:88673
Pseudohypoaldosteronism, Type Iib
Hyperkalemia, Hyperchloremia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperkalemia, Hyperchloremia OMIM:614495
Cystinosis
Hypokalemia, Aminoaciduria, Failure to thrive, Gait disturbance, Hypophosphatemia ORPHA:213
Glycine Encephalopathy
Hyperglycinemia, Hyperactivity, Hyperglycinuria OMIM:605899
Aicardi-Goutieres Syndrome 9
Hepatosplenomegaly, Anemia, Failure to thrive, Hemolytic anemia, Hypoalbuminemia, Weight loss OMIM:619487
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Familial Isolated Hyperparathyroidism
Chondrocalcinosis, Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:99879
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:614817
Fanconi Renotubular Syndrome 2
Generalized aminoaciduria, Hypophosphatemia OMIM:613388
Cyanosis, Transient Neonatal
Reticulocytosis, Anemia, Methemoglobinemia OMIM:613977
Acrodysostosis 1 With Or Without Hormone Resistance
Hyperphosphatemia, Small for gestational age OMIM:101800
Polycythemia Vera
Leukocytosis, Increased hemoglobin, Increased hematocrit, Thrombocytosis, Splenomegaly, Increased... OMIM:263300
Mirage Syndrome
Hypoplastic spleen, Decreased body weight, Hyponatremia, Leukopenia, Hyperkalemia, Thrombocytopen... OMIM:617053
Hypocalcemic Vitamin D-Resistant Rickets
Abnormal adipose tissue morphology, Hypocalcemia, Hypophosphatemia, Gait disturbance ORPHA:93160
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Fanconi Renotubular Syndrome 5
Aminoaciduria, Hypophosphatemic rickets, Hypophosphatemia OMIM:618913
Nephronophthisis 2
Hyperkalemia, Elevated circulating creatinine concentration OMIM:602088
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Al Amyloidosis
Howell-Jolly bodies, Anemia, Hypoalbuminemia, Increased circulating NT-proBNP concentration, Weig... ORPHA:85443
Autosomal Dominant Hypocalcemia
Hypocalcemia, Hypomagnesemia, Hyperphosphatemia ORPHA:428
Alpha-Thalassemia
Microcytic anemia, Splenomegaly, Anemia, Hemolytic anemia, Abnormal hemoglobin, Hypersplenism ORPHA:846
Xfe Progeroid Syndrome
Corneal scarring, Enamel hypoplasia, Failure to thrive, Absence of subcutaneous fat, Cachexia, Hy... OMIM:610965
Pseudohypoaldosteronism, Type Iic
Hyperkalemia, Hyperchloremia OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperkalemia, Hyperchloremia OMIM:614496
Fanconi Renotubular Syndrome 1
Aminoaciduria, Hypokalemia, Hypophosphatemia OMIM:134600
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Leukopenia, Hepatosplenomegaly, Flexion contracture, Hernia, Inability to walk, Anemia, Hypoalbum... ORPHA:505248
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Enamel hypoplasia, Anemia, Failure to thrive, Hypoalbuminemia, Scarring, Atrophic scars ORPHA:79396
Purine Nucleoside Phosphorylase Deficiency
Decreased proportion of CD3-positive T cells, Autoimmune hemolytic anemia, Autoimmune thrombocyto... ORPHA:760
Pseudohypoparathyroidism Type 1A
Hypocalcemic seizures, Enamel hypoplasia, Hypocalcemia, Obesity, Calcinosis, Hyperphosphatemia, H... ORPHA:79443
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Small for gestational age, Elevated circulating creatine kinase concentration, Aminoaciduria, Fai... OMIM:619055
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Aminoaciduria, Hypophosphatemia OMIM:308990
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypocalcemia, Hypoalbuminemia, Hypertriglyceridemia, Hypomagnesemia OMIM:618183
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Reduced C-peptide level, Small for gestational age OMIM:618858
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Dysmetria, Inability to walk, Gait disturbance OMIM:618090
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Hypokalemia, Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circul... OMIM:241150
Familial Hypoaldosteronism
Hyperkalemia, Failure to thrive, Hyponatremia, Increased circulating renin level ORPHA:427
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Schistocytosis, Hyponatremia, Elevated circulating creatinine concentration, Leukocy... ORPHA:90038
Trichohepatoenteric Syndrome 1
Small for gestational age, Thrombocytosis, Hypermethioninemia, Abnormality of iron homeostasis, F... OMIM:222470
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Juvenile Polyposis Of Infancy
Subcutaneous lipoma, Anemia, Cachexia, Hypoalbuminemia, Refractory anemia ORPHA:79076
Acute Adrenal Insufficiency
Hyponatremia, Normocytic anemia, Hypercalcemia, Increased circulating renin level, Hyperkalemia, ... ORPHA:95409
Alg12-Cdg
Hyponatremia, Failure to thrive, Abnormal adipose tissue morphology, B lymphocytopenia, Hypoalbum... ORPHA:79324
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Generalized aminoaciduria, Hypocalcemic seizures, Enamel hypoplasia, Failure to thrive, Hypophosp... OMIM:264700
Linear Verrucous Nevus Syndrome
Hypophosphatemia ORPHA:2611
Erythrocytosis, Familial, 4
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:611783
Acute Interstitial Pneumonia
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:79126
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Failure to thrive, Hypophosphatemia, Difficulty walking OMIM:600081
Acrodysostosis With Multiple Hormone Resistance
Hypocalcemia, Obesity, Hyperphosphatemia, Hyperactivity ORPHA:280651
Apparent Mineralocorticoid Excess
Failure to thrive, Hypokalemia, Decreased circulating renin level, Small for gestational age OMIM:218030
Leigh Syndrome With Nephrotic Syndrome
Hypoalbuminemia ORPHA:255249
Insulin-Resistance Syndrome Type B
Decreased body weight, Leukopenia, Weight loss, Abnormal circulating lipid concentration, Hypotri... ORPHA:2298
Colchicine Poisoning
Hypokalemia, Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypocalcemia, Hypophos... ORPHA:31824
Multiple Myeloma
Elevated circulating creatinine concentration, Hypercalcemia, Splenomegaly, Anemia, Hyperproteine... ORPHA:29073
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypokalemia, Hypomagnesemia, Hyperactivity OMIM:618314
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Large for gestational age, Aminoaciduria, Hypophosphatemia, Hypouricemia OMIM:616026
Erythrocytosis, Familial, 5
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617907
Erythrocytosis, Familial, 6
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617980
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced intraabdominal adipose tissue, Hyperactivity, Generalized lipodystrophy, Ataxia, Reduced ... ORPHA:363400
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hyperactivity, Hypoalbuminemia, Camptodactyly, Umbilical hernia, Joint contracture of the hand OMIM:235510
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Failure to thrive, Hypophosphatemic rickets, Difficulty walking, Hypophosphatemia OMIM:241530
Hyperphosphatasia With Mental Retardation Syndrome 6
Flexion contracture, Hyperactivity, Knee flexion contracture, Elevated circulating creatine kinas... OMIM:616809
Marburg Hemorrhagic Fever
Abnormal lymphocyte morphology, Hypokalemia, Leukopenia, Elevated circulating creatinine concentr... ORPHA:99826
Liddle Syndrome 3
Hypokalemia OMIM:618126
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalcemia, Knee flexion contracture, Hip contracture, Hypophosphatemia, Waddling gait OMIM:156400
Combined Oxidative Phosphorylation Deficiency 37
Failure to thrive, Hyperalaninemia, Hypoalbuminemia OMIM:618329
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Transient hyperphenylalaninemia, Ataxia OMIM:612716
Galloway-Mowat Syndrome 3
Camptodactyly, Failure to thrive, Hypoalbuminemia, Hiatus hernia OMIM:617729
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Diabetes Mellitus, Permanent Neonatal, 1
Elevated hemoglobin A1c, Reduced C-peptide level, Small for gestational age OMIM:606176
Erythrocytosis, Familial, 1
Splenomegaly, Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:133100
Hypocalcemic Vitamin D-Dependent Rickets
Generalized aminoaciduria, Hypocalcemic seizures, Enamel hypoplasia, Hypocalcemia, Failure to thr... ORPHA:289157
Hypermanganesemia With Dystonia 1
Hypermanganesemia, Steppage gait, Increased total iron binding capacity, Polycythemia, Unconjugat... OMIM:613280
Galloway-Mowat Syndrome 1
Hiatus hernia, Small for gestational age, Ataxia, Hypoalbuminemia, Camptodactyly, Joint contractu... OMIM:251300
Vitamin D-Dependent Rickets, Type 2A
Hypocalcemic seizures, Enamel hypoplasia, Failure to thrive, Hypophosphatemia, Difficulty walking OMIM:277440
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase level, Increased mean corpuscular volume, Macrocytic anemia... OMIM:610629
Addison Disease
Hyponatremia, Normocytic anemia, Hypercalcemia, Increased circulating renin level, Hyperkalemia, ... ORPHA:85138
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Failure to thrive, Hyperactivity, Small for gestational age OMIM:609425
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Elbow flexion contracture, Broad-based gait OMIM:619470
Hereditary Amyloidosis With Primary Renal Involvement
Hepatosplenomegaly, Decreased circulating apolipoprotein AI concentration, Elevated circulating c... ORPHA:85450
Hypocalciuric Hypercalcemia, Familial, Type Iii
Multiple lipomas, Hypercalcemia, Chondrocalcinosis, Hypermagnesemia, Hypophosphatemia OMIM:600740
Succinic Semialdehyde Dehydrogenase Deficiency
Elevated circulating gamma-aminobutyric acid concentration, Hyperactivity, Ataxia, Increased leve... OMIM:271980
Myopathy With Extrapyramidal Signs
Hyperlysinemia, Leukocytosis, Hyperactivity, Splenomegaly, Ataxia, Hypervalinemia, Elevated circu... OMIM:615673
East Syndrome
Hypokalemia, Increased circulating renin level, Inability to walk, Ataxia, Hypomagnesemia, Diffic... ORPHA:199343
Phenylketonuria
Attention deficit hyperactivity disorder, Hyperactivity, Maternal hyperphenylalaninemia, Hyperphe... OMIM:261600
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia OMIM:612089
Adenosine deaminase, elevated, hemolytic anemia due to
Elevated red cell adenosine deaminase level, Hyperuricemia, Hemolytic anemia, Anisopoikilocytosis... OMIM:102730
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pancytopenia, Small for gestational age, Slender build, Hypocalcemia, Inguinal hernia, Anemia, Fa... OMIM:613658
Uremic Pruritus
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia ORPHA:94059
Liddle Syndrome 2
Hypokalemia, Decreased circulating renin level OMIM:618114
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic rickets, Hypophosphatemia, Enamel hypomineralization OMIM:307800
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Hypokalemia, Hyperamylasemia OMIM:604278
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypocalcemia, Anemia, Cachexia, Hypomagnesemia OMIM:175500
Juvenile Huntington Disease
Hyperactivity, Ataxia, Progressive cerebellar ataxia, Gait ataxia, Weight loss, Broad-based gait ORPHA:248111
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Anemia, Elevated circulating creatinine concentration ORPHA:230
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Mildly elevated creatine kinase ORPHA:681
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia, Gait disturbance ORPHA:352540
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Anemia, Elevated circulating creatinine concentration, Hyperuricemia OMIM:174000
Beta-Thalassemia Intermedia
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Abnormality of iron homeostasis, Increased HbA2 h... ORPHA:231222
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Reduced circulating transferrin concentration, Hypocholesterolemia, Lymphopenia,... ORPHA:90363
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Inguinal hernia, Elevated circulating creatinine concentration OMIM:614376
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Obesity, Mildly elevated creatine... ORPHA:79102
Liddle Syndrome
Hypokalemia ORPHA:526
Gaisböck Syndrome
Hypercholesterolemia, Increased circulating renin level, Increased hematocrit, Obesity, Increased... ORPHA:90041
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration OMIM:613095
Erythrocytosis, Familial, 2
Failure to thrive, Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:263400
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hepatosplenomegaly, Vacuolated lymphocytes, Hypercholesterolemia, Hyperkalemia, Ane... ORPHA:275761
Juvenile Nephropathic Cystinosis
Hypokalemia, Hyponatremia, Elevated circulating creatinine concentration, Hypocalcemia, Hypourice... ORPHA:411634
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Decreased plasma total carnitine, Elevated circulating creatinine concentration, Elevated circula... OMIM:608836
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Conjugated hyperbilirubinemia, Hypoalbuminemia ORPHA:186
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyperkalemia, Failure to thrive, Hyponatremia, Increased circulating renin level ORPHA:90791
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normochromic anemia, Elevated circulating creatinine concentration, Normocytic anemia ORPHA:247691
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Anisocytosis, Neutrope... OMIM:300835
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:300971
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Congenital diaphragmatic hernia, Inguinal hernia, Macrocytic anemia, Attention def... OMIM:614294
Fanconi-Bickel Syndrome
Generalized aminoaciduria, Failure to thrive, Hypophosphatemia, Hypertriglyceridemia ORPHA:2088
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Failure to thrive, Hypokalemia OMIM:602722
Primary Familial Polycythemia
Abnormal hemoglobin, Polycythemia ORPHA:90042
Liddle Syndrome 1
Hypokalemia, Decreased circulating renin level OMIM:177200
Pearson Syndrome
Pancytopenia, Hypoplastic spleen, Hypokalemia, Small for gestational age, Hypocalcemia, Splenomeg... ORPHA:699
Hypomagnesemia 2, Renal
Chondrocalcinosis, Hypokalemia, Hypomagnesemia OMIM:154020
Familial Glucocorticoid Deficiency
Hyperkalemia, Failure to thrive, Hyponatremia, Weight loss ORPHA:361
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Congenital Disorder Of Glycosylation, Type Iit
Iron deficiency anemia, Hypotriglyceridemia, Decreased serum creatinine, Decreased HDL cholestero... OMIM:618885
Dominant Beta-Thalassemia
Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration, Failure to thrive in inf... ORPHA:231226
Primary Fanconi Renotubular Syndrome
Generalized aminoaciduria, Hypokalemia, Hyperuricosuria, Bicarbonaturia, Hypophosphatemic rickets... ORPHA:3337
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating creatinine concentration, Normocytic anemia, Increased blood urea nitrogen, ... ORPHA:49041
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hypokalemia, Weight loss OMIM:613239
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia, Weight loss OMIM:188580
Beta-Thalassemia Major
Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration, Failure to thrive in inf... ORPHA:231214
Immunodeficiency 82 With Systemic Inflammation
T lymphocytopenia, Decreased proportion of naive T cells, Elevated circulating C-reactive protein... OMIM:619381
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Hypomagnesemia ORPHA:564178
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemic rickets, Hypophosphatemia OMIM:300554
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:163596
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:542323
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypokalemia, Athetosis, Decreased circulating renin level OMIM:615474
Familial Hypocalciuric Hypercalcemia
Hypocalcemic seizures, Hypercalcemia, Infantile hypercalcemia, Lipoma, Chondrocalcinosis, Hyperma... ORPHA:405
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperkalemia, Failure to thrive, Hyponatremia ORPHA:90790
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Failure to thrive, Hyperactivity, Broad-based gait, Unsteady gait OMIM:617865
Infantile Nephropathic Cystinosis
Hypokalemia, Abnormal blood ion concentration, Aminoaciduria, Failure to thrive, Hypophosphatemia ORPHA:411629
Bone Marrow Failure Syndrome 6
Neutropenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Hereditary Fructose Intolerance
Hypermagnesemia, Hypophosphatemia, Hyperuricemia ORPHA:469
X-Linked Creatine Transporter Deficiency
Abnormal circulating creatine concentration, Hyperactivity, Athetosis, Ataxia, Cachexia ORPHA:52503
Alport Syndrome 3, Autosomal Dominant
Hypophosphatemia, Azotemia OMIM:104200
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Obesity, Ataxia, Broad-based gait ORPHA:411515
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Diabetes Insipidus, Neurohypophyseal, X-Linked
Hypokalemia OMIM:304900
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Leukocytosis, Hyperkalemia, Hypocalcemia, Hemolytic anemia, Thrombocytopenia ORPHA:544482
8p23.1 deletion syndrome
Hyperactivity, Congenital diaphragmatic hernia DECIPHER:39
46,Xy Sex Reversal 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:154230
Osteootohepatoenteric Syndrome
Hypokalemia, Increased serum bile acid concentration, Anemia, Failure to thrive, Weight loss OMIM:619377
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, Failure to thrive, Flexion contracture, HbH hemoglobin ORPHA:98791
Primary Sclerosing Cholangitis
Hepatosplenomegaly, Splenomegaly, Weight loss, Hypoalbuminemia ORPHA:171
Dent Disease 1
Aminoaciduria, Hypophosphatemia OMIM:300009
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia, Ataxia ORPHA:31826
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Polycythemia, Dysdiadochokinesis, Decreased circulating ferritin concentration, Splenomegaly, Abn... ORPHA:309854
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Diarrhea 1, Secretory Chloride, Congenital
Failure to thrive, Hypokalemia, Hyponatremia, Hypochloremia OMIM:214700
Opsismodysplasia
Hypophosphatemia OMIM:258480
Hyperaldosteronism, Familial, Type Iii
Hypokalemia, Decreased circulating renin level OMIM:613677
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Increased circulating renin level, Hyperkalemia, Failure to thrive, Abnormal circul... ORPHA:168558
Histidinemia
Hyperactivity, Hyperhistidinemia, Histidinuria ORPHA:2157
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Increased circulating renin level, Hyperkalemia, Failure to thrive, Abnormal circul... ORPHA:289548
Apparent Mineralocorticoid Excess
Failure to thrive, Hypokalemia, Decreased circulating renin level ORPHA:320
Oligomeganephronia
Congenital diaphragmatic hernia, Elevated circulating creatinine concentration, Small for gestati... ORPHA:2260
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Hypokalemia, Increased circulating renin level, Ataxia, Dysdiadochokinesis, Hypomagnesemia OMIM:612780
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Failure to thrive, Increased mean corpuscular volume, Macrocytic anemia OMIM:612561
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small for gestational age, Hyperactivity, Truncal obesity, Failure to thrive, Neonatal hyperbilir... ORPHA:73272
Tempi Syndrome
Increased hematocrit, Polycythemia ORPHA:284227
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Obesity, Broad-based gait, Shuffling gait ORPHA:3077
Hereditary Methemoglobinemia
Methemoglobinemia, Athetosis, Small for gestational age ORPHA:621
Fructose Intolerance, Hereditary
Bicarbonaturia, Hyperuricosuria, Hyperuricemia, Failure to thrive, Hyperbilirubinemia, Hypophosph... OMIM:229600
Ectopic Aldosterone-Producing Tumor
Hypokalemia, Decreased circulating renin level ORPHA:231632
Oculocerebrorenal Syndrome Of Lowe
Hypokalemia, Hyponatremia, Atypical scarring of skin, Hypercholesterolemia, Hypoammonemia, Inguin... ORPHA:534
Spastic Paraplegia 29, Autosomal Dominant
Hiatus hernia, Neonatal hyperbilirubinemia, Hyperactivity OMIM:609727
Aapoaiv Amyloidosis
Hyperlipidemia, Elevated circulating creatinine concentration ORPHA:439232
Fibrous Dysplasia Of Bone
Antalgic gait, Hypophosphatemia, Difficulty walking, Hypercalcemia ORPHA:249
Renal Tubular Acidosis Iii
Hypokalemia OMIM:267200
Parathyroid Carcinoma
Hypercalcemia, Infantile hypercalcemia, Lipoma, Chondrocalcinosis, Hypophosphatemia, Weight loss ORPHA:143
Cln5 Disease
Dysmetria, Hyperactivity, Inability to walk, Ataxia, Unsteady gait, Dysdiadochokinesis, Truncal a... ORPHA:228360
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:223900
X-Linked Cerebral Adrenoleukodystrophy
Hamstring contractures, Dysmetria, Hyperactivity, Inability to walk, Ataxia, Gait disturbance, Ab... ORPHA:139396
Mccune-Albright Syndrome
Pancytopenia, Hypophosphatemia ORPHA:562
Primary Hyperoxaluria Type 1
Abnormality of circulating enzyme level, Anemia, Failure to thrive, Calcinosis, Hyperoxaluria ORPHA:93598
Gitelman Syndrome
Hypokalemia, Increased circulating renin level, Ataxia, Chondrocalcinosis, Failure to thrive, Hyp... OMIM:263800
Raine Syndrome
Hypophosphatemia, Arthrogryposis multiplex congenita, Enamel hypoplasia OMIM:259775
Cystinosis, Nephropathic
Generalized aminoaciduria, Hypokalemia, Hyponatremia, Failure to thrive in infancy, Hypophosphate... OMIM:219800
Autosomal Recessive Malignant Osteopetrosis
Anemia, Hypocalcemia, Hypophosphatemia, Splenomegaly ORPHA:667
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Infantile hypercalcemia, Lipoma, Chondrocalcinosis, Hypophosphatemia ORPHA:99880
Primary Unilateral Adrenal Hyperplasia
Hypokalemia, Decreased circulating renin level ORPHA:231580
Argininemia
Diaminoaciduria, Spastic gait, Hyperactivity, Hyperargininemia, Hyperammonemia OMIM:207800
Familial Hyperaldosteronism Type Ii
Hypokalemia ORPHA:404
Familial Hyperaldosteronism Type I
Hypokalemia ORPHA:403
Hyperlysinemia
Hyperlysinemia, Dysmetria, Cystinuria, Hyperlysinuria, Hyperactivity, Failure to thrive, Tip-toe ... ORPHA:2203
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Umbilical hernia, Overweight, Hiatus hernia OMIM:619769
Dent Disease
Elevated circulating creatine kinase concentration, Aminoaciduria, Renal hypophosphatemia, Hyperu... ORPHA:1652
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypokalemia, Decreased circulating renin level ORPHA:231625
Yellow Fever
Leukocytosis, Elevated circulating creatinine concentration, Neutrophilia, Elevated circulating c... ORPHA:99829
Lead Poisoning