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Gene: Itga8 MGI:109442

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Gene Summary

Name:
integrin alpha 8
Synonyms:
N/A

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Itga8tm1b(KOMP)Wtsi HOM   Early adult 0.00
increased grip strength Itga8tm1b(KOMP)Wtsi HET   Early adult 7.37×10-05
decreased circulating glucose level Itga8tm1b(KOMP)Wtsi HET Early adult 3.79×10-05
increased circulating free fatty acids level Itga8tm1b(KOMP)Wtsi HET Early adult 9.56×10-05
decreased mean corpuscular hemoglobin concentration Itga8tm1b(KOMP)Wtsi HET Early adult 7.49×10-05
increased circulating sodium level Itga8tm1b(KOMP)Wtsi HET Early adult 6.54×10-06
increased mean corpuscular volume Itga8tm1b(KOMP)Wtsi HET   Early adult 2.13×10-06
increased circulating calcium level Itga8tm1b(KOMP)Wtsi HET Early adult 1.51×10-05

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 N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 100% (2 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 100% (2 of 2)
Epididymis N/A heterozygote 50% (1 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 100% (2 of 2)
Hypothalamus N/A heterozygote 100% (2 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 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 Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 100% (2 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thalamus 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)
Urinary bladder N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
Vascular system N/A heterozygote 100% (2 of 2)
Vesicular gland N/A heterozygote Not available
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 50% (1 of 2)
Brain N/A homozygote Ambiguous
Dorsal root ganglion N/A heterozygote Ambiguous
N/A Ambiguous
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote Ambiguous
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote Ambiguous
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 100% (2 of 2)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 50% (1 of 2)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 100% (2 of 2)
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote Ambiguous
N/A Ambiguous
Gut N/A heterozygote 100% (1 of 1)
N/A Ambiguous
Handplate N/A heterozygote 100% (2 of 2)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 0.0% (0 of 2)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 50% (1 of 2)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 100% (2 of 2)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 100% (2 of 2)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 100% (2 of 2)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 50% (1 of 2)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Oral cavity N/A heterozygote 50% (1 of 2)
Oral cavity N/A homozygote Ambiguous
Rib pre-cartilage condensation N/A heterozygote 100% (1 of 1)
N/A Ambiguous
Skin N/A heterozygote 100% (2 of 2)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote Ambiguous
N/A Ambiguous
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 0.0% (0 of 2)
Tail N/A homozygote Ambiguous
Umbilical artery embryonic part N/A heterozygote 100% (1 of 1)
N/A Ambiguous
Umbilical vein embryonic part N/A heterozygote 100% (1 of 1)
N/A Ambiguous
Vibrissa N/A heterozygote 100% (1 of 1)
N/A Ambiguous

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
urinary bladder
uterus 0.0%
vascular system 0.0%
vesicular gland Unavailable
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 0.0%
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
gut Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
rib pre-cartilage condensation Ambiguous
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%
umbilical artery embryonic part Ambiguous
umbilical vein embryonic part Ambiguous
vibrissa Ambiguous

Associated Images

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

Embryo LacZ

LacZ images wholemount

12 Images

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Eye Morphology

Images Ophthalmoscopy

2 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Adult LacZ

LacZ Images Section

20 Images

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X-ray

XRay Images Forepaw

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Combined SHIRPA and Dysmorphology

Images

6 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

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

8 Images

View images

Human diseases caused by Itga8 mutations

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

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

The table below shows human diseases associated to Itga8 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Renal Hypodysplasia/Aplasia 1
Low-set ears, Bilateral renal agenesis, Proteinuria, Renal dysplasia, Pulmonary hypoplasia OMIM:191830
Renal Agenesis, Bilateral
Low-set ears, Renal agenesis, Pulmonary hypoplasia ORPHA:1848

The table below shows human diseases predicted to be associated to Itga8 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Sideroblastic anemia, Hypochromia, Anemia, Elevated... OMIM:205950
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration ORPHA:231249
Anemia, Hypochromic Microcytic, With Iron Overload 1
Increased circulating iron concentration, Erythroid hyperplasia, Hypochromia, Elevated hepatic ir... OMIM:206100
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... OMIM:261000
Familial Pseudohyperkalemia
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy... ORPHA:90044
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Hyperbili... OMIM:616689
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Bone Marrow Failure And Diabetes Mellitus Syndrome
Type I diabetes mellitus, Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corp... OMIM:620044
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Dehydrated Hereditary Stomatocytosis
Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Increased mean corp... ORPHA:3202
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Congenital Dyserythropoietic Anemia Type Iii
Increased circulating iron concentration, Increased mean corpuscular volume, Increased total iron... ORPHA:98870
Adamantinoma
Hypercalcemia ORPHA:55881
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... OMIM:619041
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Type II ... OMIM:616860
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Anemia, Hypercalcemia ORPHA:2668
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Humero-Radio-Ulnar Synostosis
Abnormality of the ureter, Abnormality of the upper urinary tract ORPHA:3266
Lower Limb Malformation-Hypospadias Syndrome
Low-set, posteriorly rotated ears, Abnormality of the ureter, Hypospadias, Macrotia ORPHA:2487
Diffuse Neonatal Hemangiomatosis
Anemia, Hypercalcemia, Thrombocytopenia ORPHA:2123
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Autosomal Recessive Primary Microcephaly
Gray matter heterotopia, Unilateral renal agenesis, Vesicoureteral reflux, Pachygyria ORPHA:2512
Blue Diaper Syndrome
Hypercalcemia, Increased proinsulin:insulin ratio, Hyperphosphatemia, Recurrent hypoglycemia ORPHA:94086
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter, Round ear ORPHA:1450
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... OMIM:300946
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Atelectasis, Recurrent respiratory infections, Chronic otitis media, Lissencephaly OMIM:619466
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Sideroblastic anemia, Splenomegaly, Elevated hepati... OMIM:615234
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Abnormality of the ureter, Renal hypoplasia/aplasia, Aplasia/Hypoplasia of the lungs, Hypoplasia ... ORPHA:1046
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Braddock Syndrome
Unilateral renal agenesis, Pulmonary fibrosis, Posteriorly rotated ears, Overfolded helix ORPHA:52047
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypernatremia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypernatremia ORPHA:529799
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
High-frequency hearing impairment, Recurrent bronchitis, Atelectasis, Otitis media OMIM:300455
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Aganglionic megacolon, Unilateral renal agenesis, Hearing impairment OMIM:235740
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Unilateral renal agenesis, Bilateral renal agenesis, Ureteral atresia OMIM:618845
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Oligomeganephronia
Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas... ORPHA:2260
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoornithinemia, Hypoglycemia, Hyperammonemia, Hyperprolinemia, Hyperglutaminemia, Low plasma ci... OMIM:615751
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto... OMIM:185000
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Bardet-Biedl Syndrome 16
Bronchiolitis, Renal agenesis, Hearing impairment, Recurrent otitis media, Stage 5 chronic kidney... OMIM:615993
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Neutropenia OMIM:616949
Hemoglobin H Disease
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia OMIM:143860
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... OMIM:603902
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... ORPHA:263458
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Hepatosplenomegaly, Splenomegaly, Hypocalcemia, Hypercholesterolemia, Hypertr... OMIM:612526
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... ORPHA:93101
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia ORPHA:35710
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Conductive hearing impairment, Atelectasis, Recurrent otitis media, Recurren... OMIM:616726
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia OMIM:618849
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal lung morphology, Renal agenesis, Stillbirth ORPHA:294975
Branchiootorenal Syndrome 1
Unilateral renal agenesis, Renal malrotation, Abnormal renal collecting system morphology, Dilata... OMIM:113650
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Chronic kidney disease, Unilateral renal agenesis, Renal hypoplasia, Low-set ears OMIM:617661
Rhabdoid Tumor
Anemia, Hypercalcemia, Thrombocytopenia ORPHA:69077
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Ciliary Dyskinesia, Primary, 21
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Atelectasis OMIM:615294
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic a... OMIM:617021
Hypophosphatasia
Anemia, Hypercalcemia ORPHA:436
Hypoadrenocorticism, Familial
Hyponatremia, Hyperkalemia, Hypoglycemia OMIM:240200
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Renal Agenesis
Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins... ORPHA:411709
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Low-set ears, Unilateral renal agenesis, Macrotia, Crossed fused renal ectopia, Micropenis, Lisse... OMIM:618142
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hypomagnesemia, Pancytopenia, Leukopenia, Hyperuricemia, Hyponatremia, Increased blood urea nitro... OMIM:613845
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia OMIM:620152
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Abnor... ORPHA:71212
Congenital Isolated Acth Deficiency
Hyponatremia, Decreased circulating cortisol level, Hypoglycemic seizures, Neonatal hypoglycemia ORPHA:199296
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Steatorrhea, Increased circulating free fatty acid level, Hypophosphatemia, Hypoglycemia OMIM:605911
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hypomagnesemia, Leukocytosis, Hypocalcemia, Hyperuricemia, Elevated circulatin... ORPHA:94093
Glycogen Storage Disease Vi
Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia, Hypercholesterolemia OMIM:232700
Alpha-Heavy Chain Disease
Anemia, Splenomegaly, Hypocalcemia ORPHA:100025
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu... OMIM:610805
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Renal Caliceal Diverticuli-Deafness Syndrome
Abnormality of the urinary system, Hydroureter, Sensorineural hearing impairment, Hydronephrosis,... ORPHA:2838
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating 18-hydroxycortisone level, Hyponatremia, Increased circulating corticostero... OMIM:610600
Pyruvate Carboxylase Deficiency
Neonatal hyperbilirubinemia, Hypoglycemia, Hyperglycemia, Hyperammonemia, Hyperglutamatemia, Hype... ORPHA:3008
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypoglycemia, Hyperglycemia, Hyperglycinemia, Thrombocytopenia, Hypernatremia OMIM:620423
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Ectopic kidney, Renal agenesis, Conductive hearing impairment OMIM:601076
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypernatremia OMIM:304800
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Low-set ears, Unilateral renal agenesis, Renal hypoplasia, Hearing impairment, Polymicrogyria, Re... OMIM:618494
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level OMIM:620126
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hypoglycemia OMIM:614736
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, ... OMIM:277410
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating iron concentration, Increased circulating ferritin concentration, Hepatospl... ORPHA:300298
Emanuel Syndrome
Low-set ears, Unilateral renal agenesis, Renal hypoplasia, Hearing impairment, Recurrent urinary ... OMIM:609029
Burn-Mckeown Syndrome
Unilateral renal agenesis, Renal hypoplasia, Conductive hearing impairment, Hearing impairment, P... OMIM:608572
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level OMIM:620125
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atelectasis, Cystic pattern on pulmonary HRCT, Ground-glass opacification, Parenchymal consolidat... OMIM:610978
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Prune Belly Syndrome
Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract infections, Abnormality of the... ORPHA:2970
Syndromic Recessive X-Linked Ichthyosis
Unilateral renal agenesis, Renal insufficiency, Lissencephaly ORPHA:281090
Myotubular Myopathy With Abnormal Genital Development
Atelectasis, Glandular hypospadias, Penile hypospadias, Neonatal death, Micropenis, Hypospadias OMIM:300219
Intellectual Developmental Disorder, Autosomal Recessive 71
Micropenis, Unilateral renal agenesis, Macrotia OMIM:618504
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hepatosplenomegaly, Reticulocytosis, Hypokalemia, Decreased mean corpuscular volume, Hemolytic an... OMIM:611590
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia OMIM:613839
Radial-Renal Syndrome
Unilateral renal agenesis, Ectopic kidney, Abnormal pinna morphology OMIM:179280
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F OMIM:612561
D-Glyceric Aciduria
Increased circulating free fatty acid level, Hyperglycinemia, Nonketotic hyperglycinemia ORPHA:941
Mandibuloacral Dysplasia
Insulin resistance, Increased circulating free fatty acid level, Insulin-resistant diabetes melli... ORPHA:2457
Williams-Beuren Region Duplication Syndrome
Hydronephrosis, Unilateral renal agenesis, Overfolded helix, Chronic otitis media OMIM:609757
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Pancytopenia, Macrocytic anemia, Hypomethioninemia, Hyperhomoc... ORPHA:2169
C1Q Deficiency 2
Recurrent otitis media, Recurrent lower respiratory tract infections, Bronchiectasis, Atelectasis OMIM:620321
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... OMIM:267700
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Type I diabetes mellitus, Hypoglycemia, Macrocytic anemia, Hyperuricemia, Hypo... ORPHA:199299
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Low-set ears, Unilateral renal agenesis, Renal hypoplasia, Hypoplastic helices, Renal agenesis, H... OMIM:617641
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:94090
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Ground-gl... ORPHA:79126
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Micropenis, Unilateral renal agenesis, Hearing impairment OMIM:244200
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bilateral facial palsy, Bronchiolitis, Atelectasis, Pulmonary fibrosis ORPHA:254361
Bronchopulmonary Dysplasia
Emphysema, Abnormal lung morphology, Pulmonary sequestration, Atelectasis ORPHA:70589
Inverted Duplicated Chromosome 15 Syndrome
Low-set, posteriorly rotated ears, Unilateral renal agenesis ORPHA:3306
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:615872
Emanuel Syndrome
Low-set ears, Unilateral renal agenesis, Renal hypoplasia, Hearing impairment, Recurrent otitis m... ORPHA:96170
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Ground-g... ORPHA:2302
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Unilateral renal agenesis OMIM:601355
Chopra-Amiel-Gordon Syndrome
Unilateral renal agenesis OMIM:619504
Coach Syndrome 1
Unilateral renal agenesis, Nephronophthisis, Multiple small medullary renal cysts, Stage 5 chroni... OMIM:216360
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Hyperka... ORPHA:556037
Klippel-Feil Syndrome 1, Autosomal Dominant
Unilateral renal agenesis, Conductive hearing impairment, Hearing impairment, Sensorineural heari... OMIM:118100
Hypercalcemia, Infantile, 1
Hypercalcemia OMIM:143880
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Hypoketotic hypoglycemia, Hyperammonemia, Hypocalcem... ORPHA:26793
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Low-set ears, Renal hypoplasia, Ureteral agenesis, Neonatal death, Renal cyst, Stillbirth, Renal ... OMIM:236500
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Bronchogenic Cyst
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Paresthesi... ORPHA:2357
2P21 Microdeletion Syndrome
Hypocalcemia, Hypoglycemia ORPHA:163693
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Houge-Janssens Syndrome 2
Unilateral renal agenesis, Gait ataxia OMIM:616362
Congenital Disorder Of Glycosylation, Type Iil
Unilateral renal agenesis, Abnormal cortical gyration, Proximal tubulopathy, Optic atrophy, Hyper... OMIM:614576
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypoalbuminemia, Hypernatremia OMIM:615508
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Chronic hemolytic anemia, Elliptocytosis OMIM:617948
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Low-set ears, Unilateral renal agenesis, Renal hypoplasia, Anteverted ears, Recurrent otitis medi... OMIM:620654
Nephrogenic Diabetes Insipidus
Hypernatremia ORPHA:223
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Hyperka... ORPHA:556030
Trisomy 13
Low-set ears, Optic atrophy, Abnormal helix morphology, Abnormal lung lobation, Abnormality of th... ORPHA:3378
Axial Mesodermal Dysplasia Spectrum
Abnormality of the urinary system, Abnormality of the ureter, Renal hypoplasia/aplasia, Hydroneph... ORPHA:1834
Lymphangioleiomyomatosis
Optic atrophy, Chylothorax, Atelectasis, Abnormal urinary color, Emphysema, Pulmonary lymphangiom... ORPHA:538
Short Stature, Microcephaly, And Endocrine Dysfunction
Unilateral renal agenesis, Renal hypoplasia, Dysmetria, Sensorineural hearing impairment, Ataxia,... OMIM:616541
Progressive Familial Intrahepatic Cholestasis
Splenomegaly, Hypocalcemia ORPHA:172
Thymic-Renal-Anal-Lung Dysplasia
Ureteral agenesis, Ureteral dysgenesis, Renal agenesis OMIM:274265
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:610021
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased circulating iron concentration, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, ... OMIM:616959
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni... OMIM:300539
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:2239
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Hereditary Orotic Aciduria
Aminoaciduria, Oroticaciduria, Abnormality of the ureter, Low-set, posteriorly rotated ears, Orot... ORPHA:30
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Abnormal circula... ORPHA:86839
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythroid hyperpla... ORPHA:231222
Refractory Celiac Disease
Hypoalbuminemia, Normocytic anemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology... ORPHA:398063
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Low-set ears, Unilateral renal agenesis, Hearing impairment, Vesicoureteral reflux, Micropenis, P... OMIM:619951
Caudal Regression Syndrome
Renal agenesis, Abnormality of the ureter, Renal insufficiency, Vesicoureteral reflux, Ureteral d... ORPHA:3027
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Anemia, Hypercalcemia OMIM:241500
Hyperparathyroidism, Neonatal Severe
Splenomegaly, Hypophosphatemia, Calcinosis, Anemia, Hypercalcemia OMIM:239200
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia ORPHA:99879
Webb-Dattani Syndrome
Hypernatremia OMIM:615926
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level OMIM:177735
Meconium Aspiration Syndrome
Transient pulmonary infiltrates, Atelectasis, Aspiration pneumonia, Pneumothorax, Abnormal pulmon... ORPHA:70588
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia ORPHA:557003
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:203400
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Hyperkalemia, Hyperaldosteronism OMIM:264350
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubin... OMIM:613673
Neonatal Hemochromatosis
Increased circulating iron concentration, Hypoglycemia, Increased circulating ferritin concentration ORPHA:446
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Leukocytosis, Thrombocytopenia ORPHA:83601
Majeed Syndrome
Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Anemia of inadequate production, De... OMIM:609628
Primary Ciliary Dyskinesia
Abnormal sperm motility, Conductive hearing impairment, Hearing impairment, Atelectasis, Recurren... ORPHA:244
Kallmann Syndrome With Spastic Paraplegia
Micropenis, Unilateral renal agenesis, Ataxia OMIM:308750
Shashi-Pena Syndrome
Low-set ears, Unilateral renal agenesis, Cupped ear, Overfolded helix, Posteriorly rotated ears OMIM:617190
Acute Adrenal Insufficiency
Normocytic anemia, Hypoglycemia, Hyperuricemia, Hyponatremia, Decreased circulating cortisol leve... ORPHA:95409
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Nager Syndrome
Unilateral renal agenesis, Atresia of the external auditory canal, Hearing impairment, Low-set, p... ORPHA:245
Porphyria Due To Ala Dehydratase Deficiency
Abnormal circulating porphyrin concentration, Hyponatremia, Abnormal erythrocyte enzyme concentra... ORPHA:100924
Diamond-Blackfan Anemia 11
Unilateral renal agenesis, Atresia of the external auditory canal, Stenosis of the external audit... OMIM:614900
Beaulieu-Boycott-Innes Syndrome
Horseshoe kidney, Unilateral renal agenesis, Recurrent urinary tract infections OMIM:613680
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Hemophagocytosis, Increased total bilirubin, Increased circulating ferritin conc... OMIM:603553
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Hearing impairment, Recurrent urinary tract infections, Horseshoe kidn... ORPHA:363444
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Unilateral renal agenesis, Recurrent urinary tract infections, Positive Romberg sign, Protruding ... ORPHA:221139
Congenital Disorder Of Glycosylation, Type Im
Increased circulating free fatty acid level, Hypoketotic hypoglycemia OMIM:610768
Bladder Exstrophy And Epispadias Complex
Unilateral renal agenesis, Hydroureter, Horseshoe kidney, Bladder exstrophy, Epispadias OMIM:600057
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Unilateral renal agenesis OMIM:206750
Idiopathic Chronic Eosinophilic Pneumonia
Atelectasis, Parenchymal consolidation, Pleural effusion, Abnormal pulmonary thoracic imaging fin... ORPHA:2902
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Atelectasis OMIM:267450
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithi... ORPHA:617
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Shwachman-Diamond Syndrome
Normocytic anemia, Hypoamylasemia, Aplastic anemia, Increased mean corpuscular volume, Pancytopen... ORPHA:811
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Fraser Syndrome 2
Low-set ears, Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Bilateral renal agenes... OMIM:617666
Beta-Mercaptolactate Cysteine Disulfiduria
Low-set, posteriorly rotated ears, Abnormality of the ureter, Hypoplasia of the ear cartilage ORPHA:1035
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Increased blood urea nitrogen, Episodic hemolytic anemia ORPHA:251004
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Elevated creatine kinase after exercise ORPHA:284426
Dextrocardia
Abnormal lung lobation, Abnormality of the ureter, Abnormality of the pulmonary artery, Abnormal ... ORPHA:1666
Beta-Thalassemia
Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Anemia, Abnormality of ir... ORPHA:848
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Ureteropelvic junction obstruction, Renal ... OMIM:143400
Aica-Ribosiduria Due To Atic Deficiency
Hyponatremia, Hypoglycemia OMIM:608688
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Hyperkalemia, Microangiopathic hemolytic anemia OMIM:141000
Central Diabetes Insipidus
Hyponatremia ORPHA:178029
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypercholesterolemia, Hypoglycemic seizures, Incr... OMIM:620211
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:146200
Mirage Syndrome
Hypoglycemia, Lymphopenia, Leukopenia, Hyponatremia, Thrombocytopenia, Anemia, Hyperkalemia, Hypo... OMIM:617053
Fliedner-Zweier Syndrome
Hydronephrosis, Unilateral renal agenesis, Multicystic kidney dysplasia OMIM:620511
Wolcott-Rallison Syndrome
Hypoalbuminemia, Neonatal insulin-dependent diabetes mellitus, Hyperbilirubinemia, Hyperammonemia... ORPHA:1667
Ehlers-Danlos Syndrome, Classic-Like, 1
Unilateral renal agenesis, Vesicoureteral reflux OMIM:606408
Recurrent Respiratory Papillomatosis
Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atel... ORPHA:60032
Takenouchi-Kosaki Syndrome
Low-set ears, Unilateral renal agenesis, Optic atrophy, Sensorineural hearing impairment, Hydrone... OMIM:616737
Addison Disease
Normocytic anemia, Type I diabetes mellitus, Hypoglycemia, Hyperuricemia, Thiamine-responsive meg... ORPHA:85138
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Bronchiectasis, Atelectasis ORPHA:922
Renal Hypodysplasia/Aplasia 3
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr... OMIM:617805
Infant Acute Respiratory Distress Syndrome
Pneumonia, Pulmonary edema, Respiratory tract infection, Atelectasis ORPHA:70587
Waardenburg Syndrome Type 3
Hearing impairment, Atelectasis ORPHA:896
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Splenomegaly, Thrombocytopenia OMIM:620367
Cutis Laxa, Autosomal Dominant 3
Low-set ears, Unilateral renal agenesis, Protruding ear OMIM:616603
Prune Belly Syndrome With Pulmonic Stenosis, Impaired Intellectual Development, And Deafness
Hydronephrosis, Hydroureter, Sensorineural hearing impairment OMIM:264140
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia OMIM:612089
Nephronophthisis-Like Nephropathy 2
Stage 5 chronic kidney disease, Renal insufficiency, Pulmonary infiltrates, Polyuria, Tubular lum... OMIM:619468
Herpes Simplex Virus Encephalitis
Elevated circulating C-reactive protein concentration, Hyponatremia, Leukocytosis, Neutrophilia ORPHA:1930
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia, Iron deficiency anemia ORPHA:89937
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Recurrent respiratory infections ORPHA:3348
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Micropenis, Unilateral renal agenesis, Ataxia OMIM:308700
Oculoskeletodental Syndrome
Splenomegaly, Hypercalcemia, Hypocalcemia OMIM:618440
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:300971
Diabetic Embryopathy
Hearing impairment, Low-set, posteriorly rotated ears, Abnormality of the pulmonary artery, Renal... ORPHA:1926
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Unilateral renal agenesis, Hearing impairment, Neonatal death, Pachygyria, Gray matter heterotopi... OMIM:620024
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Bone Marrow Failure Syndrome 3
Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, Ac... OMIM:617052
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Unilateral renal agenesis, Hearing impairment, Hydronephrosis, Stillbirth, Pulmonary hypoplasia OMIM:308050
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Low-set ears, Unilateral renal agenesis, Renal agenesis OMIM:619227
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Posttransplant Acute Limbic Encephalitis
Hyponatremia ORPHA:163921
Necrotizing Enterocolitis
Hyperglycemia, Leukocytosis, Abnormal glucose homeostasis, Hyponatremia, Thrombocytopenia, Neutro... ORPHA:391673
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume OMIM:619774
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Stage 5 chronic kidney disease, Ureterop... OMIM:137920
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231226
Glycogen Storage Disease Ixa1
Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Bifid Nose With Or Without Anorectal And Renal Anomalies
Low-set ears, Unilateral renal agenesis, Renal agenesis, Overfolded helix, Posteriorly rotated ears OMIM:608980
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase ... OMIM:618838
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Unilateral renal agenesis, Hypospadias, Abnormal renal collecting system morphology, Optic nerve ... ORPHA:468631
Colchicine Poisoning
Hypomagnesemia, Leukocytosis, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal... ORPHA:31824
Peutz-Jeghers Syndrome
Neoplasm of the lung, Abnormality of the ureter, Multiple renal cysts, Renal cell carcinoma ORPHA:2869
Penoscrotal Transposition
Penoscrotal transposition, Abnormality of the urethra, Renal agenesis, Abnormality of the ureter,... ORPHA:2842
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
Chand Syndrome
Hydroureter, Atelectasis, Ataxia ORPHA:1401
Short-Rib Thoracic Dysplasia 12
Low-set ears, Renal hypoplasia, Atelectasis, Neonatal death, Posteriorly rotated ears, Abnormal p... OMIM:269860
Thymic Neuroendocrine Tumor
Hypercalcemia, Increased circulating cortisol level ORPHA:97289
Diamond-Blackfan Anemia 7
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612562
Immunodeficiency 82 With Systemic Inflammation
Hypoalbuminemia, Reduced natural killer cell count, Decreased proportion of naive T cells, Spleno... OMIM:619381
Renal Hypoplasia, Bilateral
Hyponatremia, Anemia, Hyperkalemia, Glycosuria ORPHA:97362
Urban-Rogers-Meyer Syndrome
Aplasia/Hypoplasia of the earlobes, Abnormality of the ureter, Hypoplasia of penis, Overfolded helix ORPHA:3409
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231214
Snakebite Envenomation
Hyponatremia, Thrombocytopenia ORPHA:449285
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia ORPHA:91354
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Low-set ears, Abnormality of the ureter, Hypospadias ORPHA:2522
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad... OMIM:614527
Alg8-Cdg
Hyponatremia, Anemia, Thrombocytopenia ORPHA:79325
Generalized Pustular Psoriasis
Hypoalbuminemia, Lymphopenia, Leukocytosis, Hypocalcemia, Hyponatremia, Elevated circulating C-re... ORPHA:247353
Hyperkalemic Periodic Paralysis
Hypokalemia, Hyperkalemia, Hyponatremia, Elevated circulating creatine kinase concentration ORPHA:682
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Glucocortocoid-insensitive primary hyperaldosteronism, Hyperkalemia, Increased circ... ORPHA:171876
Vici Syndrome
Optic atrophy, Renal tubular acidosis, Sensorineural hearing impairment, Ureteral atresia, Gray m... ORPHA:1493
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hypercalcemia, Hyperphosphatemia, Calcinosis OMIM:211900
Multiple Myeloma
Elevated circulating creatinine concentration, Splenomegaly, Anemia, Hyperproteinemia, Hypercalcemia ORPHA:29073
Monosomy 13Q34
Insulin resistance, Hypercalcemia ORPHA:96168
Fraser Syndrome 3
Low-set ears, Hypoplasia of the bladder, Bilateral renal agenesis, Abnormal lung lobation, Ureter... OMIM:617667
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Atresia of the external auditory canal, Low-set, posteriorly rotated ears, Abnormality of the ure... ORPHA:1770
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Unilateral renal agenesis ORPHA:1064
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Atelectasis, Recurrent otitis media, Ground-glass opa... OMIM:620233
Dyskeratosis Congenita, Autosomal Dominant 1
Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leukopenia, Thrombocytopenia, An... OMIM:127550
Cryohydrocytosis
Pseudohyperkalemia, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia OMIM:185020
Autosomal Recessive Spondylocostal Dysostosis
Low-set, posteriorly rotated ears, Abnormality of the ureter, Hypospadias, Anomalous pulmonary ve... ORPHA:2311
Diarrhea 1, Secretory Chloride, Congenital
Hyperaldosteronism, Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:214700
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hyperammonemia, Hypoglycemia ORPHA:664
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypophosphatemia, Hypercalcemia OMIM:600740
Wolfram Syndrome, Mitochondrial Form
Optic atrophy, Hydroureter, Sensorineural hearing impairment, Hydronephrosis, Abnormal autonomic ... OMIM:598500
Cholera
Hypoglycemia, Hypocalcemia, Hypokalemia, Hyponatremia, Abnormal blood ion concentration ORPHA:173
Spondyloepiphyseal Dysplasia, Nishimura Type
Hyperphosphatemia, Hypocalcemia OMIM:618618
Silver-Russell Syndrome 1
Abnormality of the ureter, Nephroblastoma, Urethral valve, Hypospadias, Congenital posterior uret... OMIM:180860
Orthostatic Hypotension 2
Anemia, Hypoglycemia OMIM:618182
Ciliary Dyskinesia, Primary, 1
Pneumonia, Bronchiectasis, Conductive hearing impairment, Atelectasis, Recurrent bronchitis, Chro... OMIM:244400
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Anemia, Hypocalcemia, Hypomagnesemia OMIM:175500
7Q11.23 Microduplication Syndrome
Unilateral renal agenesis, Hypospadias, Hearing impairment, Abnormal earlobe morphology, Low-set,... ORPHA:96121
Multiple Endocrine Neoplasia, Type I
Hypercalcemia, Increased circulating cortisol level, Hypoglycemia OMIM:131100
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Optic disc pallor, Hydroureter OMIM:618240
Smith-Lemli-Opitz Syndrome
Low-set ears, Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Hearing impairment, Ab... OMIM:270400
Fanconi Anemia, Complementation Group N
Unilateral renal agenesis, Horseshoe kidney, Nephroblastoma, Ectopic kidney, Pelvic kidney OMIM:610832
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia, Hyperammonemia, Abnormal circulating leucine concentration ORPHA:6
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Unilateral renal agenesis, Total anomalous pulmonary venous return, Optic atrophy, Hearing impair... ORPHA:487796
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Leukocytosis, R... ORPHA:90038
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hydroureter, Abnormality of the upper urinary tract, Hypoplasia of penis, Abnormality of the blad... ORPHA:2547
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia OMIM:617994
Kenny-Caffey Syndrome, Type 1
Anemia, Hypocalcemia, Hypomagnesemia OMIM:244460
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Unilateral renal agenesis, Hypospadias, Hydronephrosis, Renal cyst, Abnormality of neuronal migra... ORPHA:464311
Neurofaciodigitorenal Syndrome
Low-set ears, Unilateral renal agenesis, Atresia of the external auditory canal, Abnormal antitra... ORPHA:2673
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Protruding ear, Abnormality of the ureter, Recurrent respiratory infections, Macrotia ORPHA:3253
Autosomal Dominant Cutis Laxa
Low-set ears, Unilateral renal agenesis, Peripheral pulmonary artery stenosis, Bronchiolitis, Emp... ORPHA:90348
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Emphysema, Stage 5 chronic kidney disease, Lung adenocarcinoma, Protei... OMIM:618913
Hereditary Coproporphyria
Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79273
Albers-Schönberg Osteopetrosis
Anemia, Hypocalcemia, Abnormal leukocyte morphology ORPHA:53
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Low-set ears, Unilateral renal agenesis, Hydroureter, Bilateral renal agenesis, Prominent crus of... OMIM:619194
Czeizel-Losonci Syndrome
Hypoplastic helices, Abnormality of the urinary system, Ureteral agenesis, Low-set, posteriorly r... ORPHA:2437
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia OMIM:156400
Alagille Syndrome
Peripheral pulmonary artery stenosis, Abnormality of the ureter, Renal hypoplasia/aplasia, Protru... ORPHA:52
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia, Hyperuricemia ORPHA:364
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia OMIM:602080
Familial Glucocorticoid Deficiency
Hyponatremia, Decreased circulating cortisol level, Ketotic hypoglycemia, Hypoglycemic seizures, ... ORPHA:361
Cutis Laxa, Autosomal Recessive, Type Ic
Peripheral pulmonary artery stenosis, Multiple bladder diverticula, Recurrent pneumonia, Atelecta... OMIM:613177
Trichothiodystrophy 6, Nonphotosensitive
Increased HbA2 hemoglobin, Decreased mean corpuscular volume OMIM:616943
Microcephaly 20, Primary, Autosomal Recessive
Renal hypoplasia, Optic nerve hypoplasia, Bilateral renal agenesis, Hyperechogenic kidneys, Urete... OMIM:617914
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Elevated circulating sebacic acid concentration, Elevated circulating suberic acid concentration,... OMIM:615160
Mayer-Rokitansky-Küster-Hauser Syndrome
Unilateral renal agenesis, Hearing impairment, Horseshoe kidney, Abnormal ear morphology, Abnorma... ORPHA:3109
Cockayne Syndrome Type 3
Unilateral renal agenesis, Renal hypoplasia, Hydroureter, Urinary retention, Conductive hearing i... ORPHA:90324
Whipple Disease
Hyponatremia, Anemia, Splenomegaly, Insulin resistance ORPHA:3452
Spinal Cord Injury
Hypercalcemia ORPHA:90058
Aredyld Syndrome
Low-set, posteriorly rotated ears, Abnormality of the ureter, Abnormal tragus morphology ORPHA:1133
Vipoma
Increased circulating cortisol level, Hypokalemia, Hypercalcemia, Normochromic anemia, Diabetes m... ORPHA:97282
Hyperparathyroidism, Transient Neonatal
Low-set ears, Unilateral renal agenesis, Enlarged kidney OMIM:618188
Alpha-Thalassemia
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... ORPHA:846
Schizophrenia 1
Partially duplicated kidney, Protruding ear, Ectopic kidney, Renal agenesis OMIM:181510
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Recurrent respiratory infections, Chronic otitis media, Atelectasis ORPHA:2314
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Progressive sensorineural hearing impairment, Vesicoureteral reflux, R... ORPHA:2237
Zttk Syndrome
Low-set ears, Unilateral renal agenesis, Optic atrophy, Horseshoe kidney, Protruding ear, Unilate... OMIM:617140
Methylmalonic Acidemia With Homocystinuria Type Cblf
Unilateral renal agenesis, Methylmalonic aciduria ORPHA:79284
Urofacial Syndrome 1
Urethral obstruction, Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral v... OMIM:236730
Hypotonia-Cystinuria Syndrome
Neonatal hypoglycemia, Hypocalcemia OMIM:606407
Primary Pulmonary Hypoplasia
Low-set ears, Abnormal pulmonary artery morphology, Ureteral stenosis, Pneumothorax, Recurrent re... ORPHA:2257
Matthew-Wood Syndrome
Low-set ears, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Abnormal lung morphology... ORPHA:2470
Scalp-Ear-Nipple Syndrome
Low-set ears, Unilateral renal agenesis, Renal hypoplasia, Cupped ear, Underdeveloped tragus, Pye... OMIM:181270
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia ORPHA:93324
Somatostatinoma
Increased circulating cortisol level, Hypochromic microcytic anemia, Steatorrhea, Hypercalcemia, ... ORPHA:97283
Pituitary Apoplexy
Hyponatremia, Hypoglycemia, Increased circulating cortisol level, Normochromic anemia ORPHA:95613
Intellectual Developmental Disorder, Autosomal Dominant 70
Hyponatremia OMIM:620157
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Low-set ears, Unilateral renal agenesis, Recurrent otitis media, Recurrent sinusitis, Posteriorly... OMIM:213980
Glucagonoma
Increased circulating cortisol level, Acanthocytosis, Steatorrhea, Hypercalcemia, Normochromic an... ORPHA:97280
Porphyria Variegata
Hyponatremia, Anemia, Abnormal circulating porphyrin concentration ORPHA:79473
Fanconi Anemia, Complementation Group L
Low-set ears, Unilateral renal agenesis, Renal hypoplasia, Anotia, Micropenis, Microtia OMIM:614083
Acrodysostosis 1 With Or Without Hormone Resistance
Unilateral renal agenesis, Optic atrophy, Hearing impairment OMIM:101800
Neurooculorenal Syndrome
Unilateral renal agenesis, Hypoplasia of the bladder, Bilateral renal agenesis, Hyperechogenic ki... OMIM:620305
Zygomycosis
Nephritis, Atelectasis, Renal insufficiency, Pleural effusion, Abnormal cranial nerve morphology,... ORPHA:73263
Congenital Disorder Of Glycosylation, Type Iiaa
Hydronephrosis, Unilateral renal agenesis OMIM:620454
Shigellosis
Microangiopathic hemolytic anemia, Hypoglycemia, Leukocytosis, Hyponatremia, Splenic abscess, Thr... ORPHA:810
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hypoglycemia ORPHA:90790
Renal Dysplasia
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... ORPHA:93108
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypomagnesemia, Lymphopenia, Hypocalcemia, Reduced proportion of CD4+ effector m... ORPHA:90362
Whim Syndrome
Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atelectasis, Limb a... ORPHA:51636
Hemochromatosis, Neonatal
Abnormality of iron homeostasis, Increased circulating iron concentration, Hypoglycemia, Increase... OMIM:231100
Dyrk1A-Related Intellectual Disability Syndrome
Unilateral renal agenesis, Hypospadias, Hydronephrosis, Renal cyst, Protruding ear, Micropenis, O... ORPHA:464306
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia OMIM:618183
X-Linked Agammaglobulinemia
Anemia, Thrombocytopenia, Hypocalcemia, Neutropenia ORPHA:47
Smith-Magenis Syndrome
Conductive hearing impairment, Impaired pain sensation, Abnormality of the ureter, Renal hypoplas... ORPHA:819
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:36913
Serkal Syndrome
Abnormal penis morphology, Hypoplasia of the bladder, Renal agenesis, Hypospadias, Pulmonary hypo... ORPHA:139466
Lujo Hemorrhagic Fever
Microscopic hematuria, Oliguria, Renal insufficiency, Atelectasis ORPHA:319213
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypermagnesemia, Hypocalcemic seizures, Hypercalcemia ORPHA:405
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent hypoglycemia, Abnormal lymphocyte morphology, Hyponatremia, Decreased circulating corti... ORPHA:293978
Ellis Van Creveld Syndrome
Hydroureter, Emphysema, Abnormality of the ureter, Renal hypoplasia/aplasia, Aplasia/Hypoplasia o... ORPHA:289
Sacral Agenesis With Vertebral Anomalies
Unilateral renal agenesis, Persistent cloaca, Neonatal death OMIM:615709
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Neonatal hypoglycemia, Increase... ORPHA:90791
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Adrenal Hypoplasia, Congenital
Hyponatremia, Decreased circulating cortisol level OMIM:300200
Diamond-Blackfan Anemia 1
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:105650
Vesicoureteral Reflux 3
Hydroureter, Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Grade III vesico... OMIM:613674
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hyperaldosteronism, Hypokalemia, Hyponatremia, Hypochloremia OMIM:613090
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Low-set ears, Unilateral renal agenesis, Abnormality of the urinary system, Dilatation of the ren... ORPHA:95699
Timothy Syndrome
Hypocalcemia, Hypoglycemia OMIM:601005
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Low-set ears, Cupped ear, Large fleshy ears, Vesicoureteral reflux, Overfolded helix, Hydronephro... OMIM:614080
Hartsfield Syndrome
Hypernatremia OMIM:615465
Fibrous Dysplasia Of Bone
Hypophosphatemia, Hypercalcemia, Increased circulating cortisol level, Diabetes mellitus ORPHA:249
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Ectopic kidney, Renal agenesis, Renal dysplasia, Hearing impairment ORPHA:2578
Myoectodermal Gonadal Dysgenesis Syndrome
Low-set ears, Unilateral renal agenesis, Sensorineural hearing impairment, Overfolded helix, Post... OMIM:618419
Adenohypophysitis
Hyponatremia, Decreased circulating cortisol level, Normochromic anemia ORPHA:95512
Relapsing Polychondritis
Atelectasis, Vertigo, Renal insufficiency, Sensorineural hearing impairment, Hematuria, Proteinur... ORPHA:728
Chédiak-Higashi Syndrome
Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ... ORPHA:167
Juvenile Nephropathic Cystinosis
Hypouricemia, Glycosuria, Elevated circulating creatinine concentration, Hypocalcemic tetany, Hyp... ORPHA:411634
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Urolithiasis, Renal insufficiency, 2,8-dihydroxyadenine crystalluria, Nephrolithiasis, ... OMIM:614723
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia ORPHA:476126
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis OMIM:158330
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hyperaldosteronism, Hypokalem... OMIM:601678
Lysosomal Acid Lipase Deficiency
Hepatosplenomegaly, Hypersplenism, Bone-marrow foam cells, Xanthelasma, Hyponatremia, Hypercholes... ORPHA:275761
Cockayne Syndrome
Unilateral renal agenesis, Renal hypoplasia, Optic atrophy, Somatic sensory dysfunction, Progress... ORPHA:191
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Splenomegaly, Hypocalcemia, Thrombocytopenia, Anemia OMIM:259700
Congenital Tracheal Stenosis
Abnormal earlobe morphology, Abnormal lung lobation, Abnormality of the ureter, Anomalous origin ... ORPHA:141127
8Q24.3 Microdeletion Syndrome
Unilateral renal agenesis, Bilateral renal hypoplasia, Abnormal lung lobation, Vesicoureteral ref... ORPHA:508488
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Low-set ears, Unilateral renal agenesis, Optic atrophy, Optic nerve hypoplasia, Hearing impairmen... ORPHA:500150
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Vesicoureteral reflux, Hydroureter, Nephrolithiasis OMIM:617219
Legionnaires Disease
Hyponatremia, Lymphopenia, Splenomegaly ORPHA:549
Renal Hypodysplasia/Aplasia 1
Low-set ears, Bilateral renal agenesis, Proteinuria, Renal dysplasia, Pulmonary hypoplasia OMIM:191830
Acrorenal-Mandibular Syndrome
Low-set ears, Renal agenesis, Aplasia of the bladder, Abnormality of the ureter, Posteriorly rota... OMIM:200980
Pheochromocytoma
Hypercalcemia OMIM:171300
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Low-set ears, Atelectasis, Peripapillary atrophy, Renal neoplasm, Mixed hearing impairment, Poste... ORPHA:536467
Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:427
Panhypophysitis
Hyponatremia, Decreased circulating cortisol level, Normochromic anemia ORPHA:95513
Penile Agenesis
Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Unilateral renal hypoplasia, B... ORPHA:49
Farber Disease
Diffuse reticular or finely nodular infiltrations, Recurrent upper respiratory tract infections, ... ORPHA:333
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Atelectasis, Pachygyria, Recurrent lower respiratory tract infections, Facial palsy, Lissencephaly ORPHA:258
Sheehan Syndrome
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Normochromic anemia ORPHA:91355
Leopard Syndrome 1
Low-set ears, Unilateral renal agenesis, Sensorineural hearing impairment, Protruding ear, Poster... OMIM:151100
Trisomy 20P
Low-set, posteriorly rotated ears, Abnormality of the ureter, Abnormal antihelix morphology, Hydr... ORPHA:261318
Mody
Abnormal oral glucose tolerance, Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, ... ORPHA:552
Oculocerebrorenal Syndrome Of Lowe
Aminoaciduria, Nephrocalcinosis, Oligosacchariduria, Atelectasis, Low-set, posteriorly rotated ea... ORPHA:534
Digeorge Syndrome
Low-set ears, Unilateral renal agenesis, Recurrent pneumonia, Atelectasis, Recurrent otitis media... OMIM:188400
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Low-set ears, Congenital pulmonary airway malformation, Hypoplasia of the bladder, Renal agenesis... OMIM:611812
Acrofacial Dysostosis 1, Nager Type
Low-set ears, Unilateral renal agenesis, Conductive hearing impairment, Atresia of the external a... OMIM:154400
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Splenomegaly, Hypocalcemia, Hypokalemia, Hyponatremia, Calcinosis OMIM:617913
Wolfram Syndrome 1
Optic atrophy, Hydroureter, Hearing impairment, Sensorineural hearing impairment, Hydronephrosis,... OMIM:222300
Celiac Disease, Susceptibility To, 1
Type I diabetes mellitus, Hypocalcemia, Macrocytic anemia, Iron deficiency anemia, Thrombocytosis... OMIM:212750
Pseudohypoparathyroidism Type 1B
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:94089
Alg12-Cdg
Hypoalbuminemia, Recurrent hypoglycemia, Hypocholesterolemia, Hyponatremia, Thrombocytopenia, B l... ORPHA:79324
22Q11.2 Deletion Syndrome
Low-set ears, Optic atrophy, Renal hypoplasia, Small earlobe, Conductive hearing impairment, Hear... ORPHA:567
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Anisocytosis, Poikilocytosis, ... OMIM:618278
Hb Bart'S Hydrops Fetalis
Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Kenny-Caffey Syndrome, Type 2
Anemia, Hyperphosphatemia, Hypocalcemia, Transient hypophosphatemia OMIM:127000
Mandibulofacial Dysostosis With Alopecia
Low-set ears, Hydroureter, Cupped ear, Conductive hearing impairment, Stenosis of the external au... OMIM:616367
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypercalcemia, Hypertriglyceridemia ORPHA:369837
Amyloidosis, Finnish Type
Urolithiasis, Stage 5 chronic kidney disease, Renal insufficiency, Orthostatic hypotension, Nephr... OMIM:105120
Distal 22Q11.2 Microduplication Syndrome
Low-set ears, Unilateral renal agenesis, Abnormal helix morphology, Optic disc coloboma, Abnormal... ORPHA:261337
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia ORPHA:29072
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia OMIM:612462
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Combined Oxidative Phosphorylation Deficiency 40
Anemia, Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase ... OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Anemia, Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase ... OMIM:618839
Methylmalonic Aciduria, Cblb Type
Hypoglycemia, Elevated circulating propionylcarnitine concentration, Pancytopenia, Hyperglycinemi... OMIM:251110
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Bladder Exstrophy
Recurrent urinary tract infections, Abnormality of the ureter, Vesicoureteral reflux, Hypoplasia ... ORPHA:93930
Caudal Duplication Anomaly
Ureteral duplication OMIM:607864
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Unilateral renal agenesis, Dilatation of the renal pelvis, Hearing impairment, Recurrent urinary ... ORPHA:268261
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Optic nerve hypoplasia ORPHA:457284
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hy... ORPHA:276152
Infection-Related Hemolytic Uremic Syndrome
Leukocytosis, Hypocalcemia, Hyponatremia, Thrombocytopenia, Hyperkalemia, Hemolytic anemia, Diabe... ORPHA:544482
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory tract infection, Oligosacchariduria, Atelectasis, Hearing impairment ORPHA:365
Toriello-Lacassie-Droste Syndrome
Abnormal penis morphology, Hearing impairment, Abnormality of the ureter, Aganglionic megacolon, ... ORPHA:3339
Meckel Syndrome 12
Low-set ears, Renal hypoplasia, Ureteral hypoplasia, Bilateral renal agenesis OMIM:616258
Infant Botulism
Hyponatremia ORPHA:178478
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypoalbuminemia, Type I diabetes mellitus, Hypomagnesemia, Hypocalcemia, Autoimmune hemolytic ane... ORPHA:37042
Caudal Duplication
Abnormal penis morphology, Ureteral duplication, Renal hypoplasia/aplasia ORPHA:1756
Stankiewicz-Isidor Syndrome
Low-set ears, Hearing impairment, Abnormal optic disc morphology, Micropenis, Ureteral duplicatio... OMIM:617516
Ureter, Bifid Or Double
Ureteral duplication OMIM:191550
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase ORPHA:99845
Ventriculomegaly With Defects Of The Radius And Kidney
Horseshoe kidney, Ureteral duplication, Ectopic kidney, Renal agenesis OMIM:602200
Vacterl/Vater Association
Multicystic kidney dysplasia, Abnormality of the urethra, Renal agenesis, Low-set, posteriorly ro... ORPHA:887
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Pancytopenia, Hepatosplenomegaly, Hyperbilirubinemia, Hypocalcemia,... OMIM:259720
Igg4-Related Kidney Disease
Chronic kidney disease, Acute kidney injury, Abnormal lung morphology, Urinary bladder inflammati... ORPHA:449395
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen, Hypocalcemia OMIM:602361
Pallister-Hall Syndrome
Hypospadias, Unilateral renal agenesis, Auricular tag, Bilateral renal agenesis, Atresia of the e... ORPHA:672
Zollinger-Ellison Syndrome
Hypercalcemia, Increased circulating cortisol level, Increased glucagon level ORPHA:913
Glycogen Storage Disease Ixc
Hypoglycemia, Splenomegaly, Fasting hypoglycemia, Hypertriglyceridemia OMIM:613027
Hypocalcemic Vitamin D-Dependent Rickets
Hypochromic anemia, Leukocytosis, Hypocalcemia, Splenomegaly, Hypophosphatemia, Hypocalcemic seiz... ORPHA:289157
Proboscis Lateralis
Unilateral renal agenesis, Duplication of renal pelvis, Optic disc coloboma, Ureteral agenesis, O... ORPHA:141099
Hypouricemia, Renal, 1
Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Urolithiasis, Proteinuria, Hyper... OMIM:220150
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Low-set ears, Nephrocalcinosis, Hydroureter, Ureteral stenosis, Renal cyst, Hypercalciuria, Ataxia OMIM:615398
Baller-Gerold Syndrome
Conductive hearing impairment, Abnormality of the ureter, Vesicoureteral reflux, Hydronephrosis, ... ORPHA:1225
Ciliary Dyskinesia, Primary, 20
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent sinusitis, Pulmonary artery s... OMIM:615067
Castleman Disease
Elevated circulating C-reactive protein concentration, Anemia, Decreased mean corpuscular volume,... ORPHA:160
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Hypocalcemia OMIM:600081
Rabin-Pappas Syndrome
Hyponatremia OMIM:620155
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Recurrent upper respiratory tract infect... OMIM:308205
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Atelectasis, Polymicrogyria, Pulmonary artery atresia, Posteriorly rotated ears, Pulmonary hypopl... OMIM:620371
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Abnormal circulating cholesterol concentration, Hyponatremia, Decreased circulating cortisol leve... ORPHA:168558
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:241410
Codas Syndrome
Overfolded helix, Crumpled ear, Hydroureter, Sensorineural hearing impairment ORPHA:1458
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Abnormal circulating cholesterol concentration, Hyponatremia, Decreased circulating cortisol leve... ORPHA:289548
Schinzel-Giedion Syndrome
Low-set ears, Abnormality of the outer ear, Recurrent pneumonia, Abnormal helix morphology, Large... ORPHA:798
Mckusick-Kaufman Syndrome
Hydroureter, Vesicovaginal fistula, Hydronephrosis, Aganglionic megacolon, Polycystic kidney dysp... OMIM:236700
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia OMIM:264700
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Glycosuria, Hypomagnesemia, Hypophosphatemic ricke... OMIM:219800
Renal-Hepatic-Pancreatic Dysplasia 1
Pulmonary hypoplasia, Stage 5 chronic kidney disease, Renal insufficiency, Ureteral atresia, Neon... OMIM:208540
Fanconi Anemia, Complementation Group B
Low-set ears, Renal agenesis, Abnormal lung lobation, Micropenis, Overfolded helix OMIM:300514
Alpha-1-Antitrypsin Deficiency
Emphysema, Nephrotic syndrome, Bronchiectasis, Bronchitis ORPHA:60
Primary Hyperoxaluria Type 2
Nephrocalcinosis, Recurrent urinary tract infections, Ureteral obstruction, Hyperoxaluria, Renal ... ORPHA:93599
Pallister-Hall Syndrome
Renal hypoplasia, Hydroureter, Atresia of the external auditory canal, Abnormal lung lobation, Di... OMIM:146510
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Hydroureter, Fetal megacystis OMIM:249210
Ppoma
Hypercalcemia, Increased circulating cortisol level ORPHA:97278
Prune Belly Syndrome
Hydronephrosis, Hydroureter, Congenital posterior urethral valve OMIM:100100
Ureterocele
Duplicated collecting system, Ureterocele OMIM:191650
Raine Syndrome
Low-set ears, Hydroureter, Neonatal death, Hydronephrosis, Protruding ear, Mixed hearing impairme... OMIM:259775
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Low-set ears, Peripheral pulmonary artery stenosis, Hypoplasia of the bladder, Hydroureter, Cross... OMIM:300707
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia, Hypoglycemia OMIM:607143
Pearson Syndrome
Glycosuria, Hypomagnesemia, Pancytopenia, Hypocalcemia, Reticulocytosis, Splenomegaly, Hypokalemi... ORPHA:699
Hyperparathyroidism-Jaw Tumor Syndrome
Hypophosphatemia, Hypercalcemia ORPHA:99880
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Low-set ears, Polymicrogyria, Renal insufficiency, Overfolded helix, Hydronephrosis, Abnormality ... OMIM:608836
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Radio-Renal Syndrome
Multicystic kidney dysplasia, Chylothorax, Renal agenesis, Pleural effusion, Renal hypoplasia/apl... ORPHA:3015
Parathyroid Carcinoma
Hypophosphatemia, Hypercalcemia ORPHA:143
Eisenmenger Syndrome
Abnormal circulating B-type natriuretic peptide concentration, Increased mean corpuscular volume,... ORPHA:97214
Japanese Encephalitis
Hyponatremia, Neutrophilia ORPHA:79139
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hyperaldosteronism, Hypokalemia, Hyponatremia, Hypochloremia OMIM:602522
Ziegler-Huang Syndrome
Neutropenia, Macrocytic anemia, Persistence of hemoglobin F OMIM:620501
Polyendocrine-Polyneuropathy Syndrome
Elevated hemoglobin A1c, Type I diabetes mellitus, Hypoglycemia OMIM:616113
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia ORPHA:93160
Exstrophy-Epispadias Complex
Penoscrotal transposition, Renal hypoplasia, Bladder exstrophy, Horseshoe kidney, Abnormality of ... ORPHA:322
Bartter Syndrome Type 4
Hypomagnesemia, Hyperaldosteronism, Hypokalemia, Hyponatremia, Hypochloremia, Increased circulati... ORPHA:89938
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Microphthalmia, Lenz Type
Hydroureter, Hearing impairment, Optic disc coloboma, Low-set, posteriorly rotated ears, Renal hy... ORPHA:568
Grfoma
Hypercalcemia, Increased circulating cortisol level ORPHA:97261
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Renal insufficiency, Pulmonary artery st... ORPHA:140952
Combined Oxidative Phosphorylation Deficiency 3
Hyponatremia, Hyperammonemia, Elevated circulating creatine kinase concentration OMIM:610505
Granulomatous Disease, Chronic, X-Linked
Recurrent pneumonia, Air bronchogram, Pleural effusion, Atelectasis OMIM:306400
Mitochondrial Trifunctional Protein Deficiency
Hypoketotic hypoglycemia, Hypocalcemia ORPHA:746
Peroxisome Biogenesis Disorder 4B
Optic atrophy, Ureterocele, Decreased nerve conduction velocity, Sensorineural hearing impairment... OMIM:614863
Holoprosencephaly
Hyponatremia, Abnormality of the spleen, Diabetes mellitus, Hypoglycemia ORPHA:2162
Gitelman Syndrome
Insulin resistance, Hypermagnesemia, Type I diabetes mellitus, Hypomagnesemia, Glucose intoleranc... ORPHA:358
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Glycosuria, Hypoglycemia, Hypophosphatemia, Diabetes mellitus OMIM:616026
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Elevated circulating creatinine concentration, Hypocalcemia, Elevated circulatin... ORPHA:36234
17Q12 Microdeletion Syndrome
Multicystic kidney dysplasia, Ureterocele, Hearing impairment, Renal insufficiency, Renal hypopla... ORPHA:261265
Epidermolysis Bullosa Simplex With Pyloric Atresia
Abnormality of the urinary system, Abnormality of the urethra, Ureterocele, Aplasia of the bladde... ORPHA:158684
Cat Eye Syndrome
Low-set ears, Total anomalous pulmonary venous return, Renal agenesis, Hearing impairment, Horses... OMIM:115470
Severe Generalized Junctional Epidermolysis Bullosa
Pneumonia, Multicystic kidney dysplasia, Hydroureter, Ureterocele, Urinary retention, Recurrent u... ORPHA:79404
Otopalatodigital Syndrome Type 2
Low-set ears, Hearing impairment, Ureteral obstruction, Hydronephrosis, Hypospadias, Abnormal pin... ORPHA:90652
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Low-set ears, Ureteral duplication, Optic disc coloboma, Renal duplication OMIM:270420
Familial Dysautonomia
Hyponatremia ORPHA:1764
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Noonan Syndrome 4
Low-set ears, Hydronephrosis, Ureteral duplication, Thickened helices, Posteriorly rotated ears OMIM:610733
Atresia Of Urethra
Hydroureter, Megacystis, Recurrent urinary tract infections, Bladder fistula, Renal insufficiency... ORPHA:105
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Sarcoidosis
Hypercalcemia, Leukopenia, Increased T cell count, Eosinophilia, Thrombocytopenia, Anemia, Hemoly... ORPHA:797
Meckel Syndrome, Type 1
Low-set ears, Hypoplasia of the bladder, Renal agenesis, Abnormality of the ureter, Polycystic ki... OMIM:249000
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Splenomegaly, Hypoproteinemia, Hypocalcemia OMIM:235255
Phosphoribosylpyrophosphate Synthetase Superactivity
Low-set ears, Hearing impairment, Urolithiasis, Renal insufficiency, Sensorineural hearing impair... OMIM:300661
Cloacal Exstrophy
Hydroureter, Ureterocele, Horseshoe kidney, Vesicoureteral reflux, Ureteropelvic junction obstruc... ORPHA:93929
Familial Visceral Myopathy
Hydroureter, Megacystis, Low-set, posteriorly rotated ears, Vesicoureteral reflux, Aganglionic me... ORPHA:2604
Granulomatosis With Polyangiitis
Ureteral stenosis, Recurrent intrapulmonary hemorrhage, Renal insufficiency, Otitis media, Sensor... ORPHA:900
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyponatremia, Hyperkalemia OMIM:201810
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Leukopenia, Hyperbilirubinemia, Hypocalcemia, Hyper... OMIM:619991
Mitochondrial Complex I Deficiency, Nuclear Type 32
Hyponatremia OMIM:618252
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Recurrent aspiration pneumonia, Peripheral pulmonary artery stenosis, Abnormal renal collecting s... ORPHA:280633
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Unilateral renal agenesis, Recurrent pneumonia, D-2-hydroxyglutaric aciduria, Macrotia ORPHA:99646
Multiple Endocrine Neoplasia Type 2
Hypercalcemia ORPHA:653
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Abnormality of the urethra, Renal hypoplasia/aplasia, ... ORPHA:2973
Koolen-De Vries Syndrome
Vesicoureteral reflux, Overfolded helix, Renal duplication, Hydronephrosis, Protruding ear, Urete... ORPHA:96169
Noonan Syndrome 9
Hydroureter OMIM:616559
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydronephrosis, Neonatal death, Hydroureter, Fetal megacystis OMIM:619362
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Low-set ears, Unilateral renal agenesis, Recurrent otitis media, Congenital Horner syndrome, Micr... OMIM:619503
Acute Intermittent Porphyria
Hyponatremia ORPHA:79276
Sanjad-Sakati Syndrome
Hyperphosphatemia, Hypocalcemia ORPHA:2323
Baraitser-Winter Cerebrofrontofacial Syndrome
Hydroureter, Optic disc coloboma, Polymicrogyria, Hydronephrosis, Abnormality of the upper urinar... ORPHA:2995
Fryns Syndrome
Low-set ears, Abnormal helix morphology, Chylothorax, Renal agenesis, Hydronephrosis, Renal cyst,... OMIM:229850
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Splenomegaly, Hepatosplenomegaly, Hypoproteinemia, Hypocalcemia ORPHA:1655
Marden-Walker Syndrome
Abnormal penis morphology, Low-set ears, Multicystic kidney dysplasia, Abnormality of the urinary... ORPHA:2461
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperaldosteronism, Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia ORPHA:73224
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, HbH hemoglobin ORPHA:98791
Heterotaxy, Visceral, 5, Autosomal
Renal hypoplasia, Total anomalous pulmonary venous return, Pulmonary artery atresia, Ureteral ste... OMIM:270100
Multiple Endocrine Neoplasia Type 1
Primary hypercortisolism, Hypercalcemia, Increased circulating cortisol level ORPHA:652
Carpenter Syndrome 1
Low-set ears, Optic atrophy, Hydroureter, Conductive hearing impairment, Sensorineural hearing im... OMIM:201000
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hypokalemia, Hyponatremia OMIM:618426
Peutz-Jeghers Syndrome
Abnormality of the ureter, Bladder polyp OMIM:175200
Scalp-Ear-Nipple Syndrome
Duplication of renal pelvis, Recurrent urinary tract infections, Underdeveloped tragus, Pyeloneph... ORPHA:2036
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Low-set ears, Dilatation of the renal pelvis, Hydroureter, Pulmonary artery dilatation, Abnormal ... OMIM:265380
Autosomal Dominant Hypocalcemia
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:428
Double Outlet Right Ventricle
Hypocalcemia ORPHA:3426
Junctional Epidermolysis Bullosa With Pyloric Atresia
Ureterocele, Urinary bladder inflammation, Aplasia of the bladder, Renal duplication, Hematuria, ... ORPHA:79403
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Hypoglycemia, Pancytopenia, Hypocalcemia, Anemia, Unconjugated hyperbilirubinemia OMIM:613658
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Hydroureter, Renal agenesis, Ureterocele, Conductive hearing impairment, Vesicoureteral reflux, H... OMIM:129900
Alg9-Cdg
Low-set ears, Hypoplasia of the bladder, Abnormal lung lobation, Large fleshy ears, Low-set, post... ORPHA:79328
Pseudohypoparathyroidism Type 1C
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Calcinosis, Hypocalcemic seizures ORPHA:79444
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Anemia, Hyperbilirubinemia, Hypocalcemia, Thrombocytopenia ORPHA:163979
Williams Syndrome
Type II diabetes mellitus, Hypercalcemia, Abnormal circulating lipid concentration, Elevated circ... ORPHA:904
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Low-set ears, Acute kidney injury, Nephronophthisis, Stage 5 chronic kidney disease, Reduced rena... OMIM:266920
Autosomal Recessive Polycystic Kidney Disease
Hypersplenism, Hepatosplenomegaly, Splenomegaly, Increased serum bile acid concentration, Hyponat... ORPHA:731
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Neonatal hypoglycemia, Hypochlo... ORPHA:90794
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Hyperglycemia, Hyperlipidemia ORPHA:293987
Lead Poisoning
Imbalanced hemoglobin synthesis, Decreased HDL cholesterol concentration, Increased LDL cholester... ORPHA:330015
Bardet-Biedl Syndrome 12
Hydronephrosis, Hydroureter, Cystic renal dysplasia OMIM:615989
Schwartz-Jampel Syndrome
Abnormality of the urinary system, Low-set, posteriorly rotated ears, Abnormality of the ureter, ... ORPHA:800
Renal Agenesis, Bilateral
Low-set ears, Renal agenesis, Pulmonary hypoplasia ORPHA:1848
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Leukopenia, Hypocalcemia, Elevated circulating creatine kinase concentration, Throm... ORPHA:2785
Cartilage-Hair Hypoplasia
Anemia, Hypocalcemia, Neutropenia ORPHA:175
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropenia, Thrombocytopenia,... OMIM:260400
Thoracoabdominal Syndrome
Hypospadias, Renal agenesis, Pulmonary hypoplasia OMIM:313850
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Khan-Khan-Katsanis Syndrome
Renal hypoplasia, Vesicoureteral reflux, Sensorineural hearing impairment, Hydronephrosis, Renal ... OMIM:618460
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Tetraamelia Syndrome 1
Low-set ears, Renal agenesis, Urethral atresia, Peripheral pulmonary vessel aplasia, Pulmonary hy... OMIM:273395
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
Ureteral duplication, Duplication of renal pelvis, Macrotia ORPHA:457212
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydronephrosis, Hydroureter, Megacystis OMIM:619431
Pseudohypoparathyroidism Type 1A
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Calcinosis, Hypocalcemic seizures ORPHA:79443
Autosomal Recessive Malignant Osteopetrosis
Anemia, Splenomegaly, Hypophosphatemia, Hypocalcemia ORPHA:667
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia ORPHA:31826
Williams-Beuren Syndrome
Glucose intolerance, Hypercalcemia, Diabetes mellitus OMIM:194050
Autosomal Dominant Kenny-Caffey Syndrome
Anemia, Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia ORPHA:93325
Exercise-Induced Malignant Hyperthermia
Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Thrombocytop... ORPHA:466650
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Hydroureter, Renal agenesis, Ureterocele, Megacystis, Hearing impairment, Vesicoureteral reflux, ... OMIM:604292
T-Cell Immunodeficiency With Thymic Aplasia
Hypocalcemic tetany, Decreased proportion of naive T cells, Aplasia of the thymus, Coombs-positiv... ORPHA:83471
Sotos Syndrome
Neonatal hypoglycemia, Acute lymphoblastic leukemia, Hypercalcemia ORPHA:821
White-Kernohan Syndrome
Low-set ears, Hydroureter, Horseshoe kidney, Recurrent otitis media, Hydronephrosis, Simple ear, ... OMIM:619426
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Frontometaphyseal Dysplasia 1
Hydronephrosis, Hydroureter, Hearing impairment, Sensorineural hearing impairment OMIM:305620
Hardikar Syndrome
Hypoplasia of the bladder, Hydroureter, Recurrent urinary tract infections, Vertigo, Mild hearing... OMIM:301068
Cardiac Valvular Dysplasia 1
Hydronephrosis, Pulmonary artery atresia, Hydroureter, Urethral diverticulum OMIM:212093
Hypomagnesemia 3, Renal
Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Hypomagnesemi... OMIM:248250
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Multicystic kidney dysplasia, Hydroureter, Megacystis ORPHA:2241
Restrictive Dermopathy 1
Low-set ears, Neonatal death, Stillbirth, Ureteral duplication, Hypospadias, Pulmonary hypoplasia OMIM:275210
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hypoglycemia, Decreased circulating renin level, Hyponatremia, Decreased circulating cortisol lev... OMIM:201750
Thymoma
Leukemia, Pure red cell aplasia, Aplastic anemia, Imbalanced hemoglobin synthesis ORPHA:99867
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Posteriorly rotated ears, Hydroureter, Hearing impairment OMIM:610759
Hennekam Syndrome
Lymphopenia, Hypocalcemia, Splenomegaly ORPHA:2136
Velocardiofacial Syndrome
Hypocalcemia OMIM:192430
Early Infantile Epileptic Encephalopathy
Ureterocele, Renal dysplasia, Episodic ataxia, Pachygyria, Micropenis, Choreoathetosis ORPHA:1934
Peters Plus Syndrome
Optic atrophy, Multicystic kidney dysplasia, Microtia, second degree, Conductive hearing impairme... ORPHA:709
Diphallia
Penoscrotal transposition, Bladder exstrophy, Horseshoe kidney, Distal urethral duplication, Rena... ORPHA:227
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
Coffin-Siris Syndrome 1
Low-set ears, Renal hypoplasia, Hydroureter, Hearing impairment, Gait ataxia, Hydronephrosis, Pos... OMIM:135900
Oeis Complex
Duplicated collecting system, Hydroureter, Renal agenesis, Hydronephrosis, Micropenis, Pelvic kid... OMIM:258040
Frontometaphyseal Dysplasia
Conductive hearing impairment, Hearing impairment, Ureteral obstruction, Sensorineural hearing im... ORPHA:1826
Poland Syndrome
Abnormality of the outer ear, Renal hypoplasia, Ureterocele, Vesicoureteral reflux, Renal hypopla... ORPHA:2911
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Abnormal hemoglobin ORPHA:847
Skin Creases, Congenital Symmetric Circumferential, 2
Low-set ears, Hypospadias, Ureterocele, Uplifted earlobe, Overfolded helix, Posteriorly rotated e... OMIM:616734
Beckwith-Wiedemann Syndrome
Nephropathy, Otosclerosis, Hearing impairment, Abnormal earlobe morphology, Anterior creases of e... ORPHA:116
Schinzel-Giedion Midface Retraction Syndrome
Low-set ears, Hydroureter, Ureteral stenosis, Hydronephrosis, Micropenis, Hypospadias OMIM:269150
Fanconi Anemia
Abnormality of the urinary system, Hydroureter, Hearing impairment, Recurrent urinary tract infec... ORPHA:84
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:301040
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Hydroureter, Hydronephrosis, Abnormality of the upper urinary tract, Aganglionic megacolon, Abnor... ORPHA:2273
Occipital Horn Syndrome
Hydronephrosis, Ureteral obstruction, Bladder diverticulum, Orthostatic hypotension OMIM:304150
Simpson-Golabi-Behmel Syndrome
Multicystic kidney dysplasia, Abnormal helix morphology, Hydroureter, Low-set, posteriorly rotate... ORPHA:373
Restrictive Dermopathy
Low-set ears, Ureteral duplication, Hypospadias, Pulmonary hypoplasia ORPHA:1662
Intellectual Developmental Disorder, Autosomal Dominant 73
Low-set ears, Hydroureter, Conductive hearing impairment, Recurrent otitis media, Anteverted ears... OMIM:620450
Microphthalmia, Syndromic 1
Low-set ears, Renal hypoplasia, Hydroureter, Hearing impairment, Optic disc coloboma, Recurrent o... OMIM:309800
Cranioectodermal Dysplasia 1
Hypocalcemia OMIM:218330
Meckel Syndrome
Optic atrophy, Multicystic kidney dysplasia, Low-set, posteriorly rotated ears, Urethral atresia,... ORPHA:564
Heart Defects, Congenital, And Other Congenital Anomalies
Pulmonary artery stenosis, Ureteral duplication, Glycosuria OMIM:600001
Craniofacial Microsomia 1
Multicystic kidney dysplasia, Duplicated tragus, Conductive hearing impairment, Renal agenesis, A... OMIM:164210
Thrombocytopenia-Absent Radius Syndrome
Dilatation of the renal pelvis, Horseshoe kidney, Vesicoureteral reflux, Axial malrotation of the... OMIM:274000
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Low-set ears, Abnormality of the urinary system, Hydroureter, Hydronephrosis, Abnormality of the ... ORPHA:2636
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Pulmonary artery stenosis, Ureteral duplication ORPHA:2255
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hypocalcemia OMIM:620330
Focal Dermal Hypoplasia
Low-set ears, Optic atrophy, Horseshoe kidney, Bifid ureter, Stenosis of the external auditory ca... OMIM:305600
Johanson-Blizzard Syndrome
Splenomegaly, Hypocalcemia, Increased VLDL cholesterol concentration, Conjugated hyperbilirubinem... OMIM:243800
Peters-Plus Syndrome
Low-set ears, Renal hypoplasia, Microtia, second degree, Hearing impairment, Stenosis of the exte... OMIM:261540
Charge Syndrome
Lymphopenia, Hypocalcemia OMIM:214800
Alkaptonuria
Methemoglobinemia, Hemolytic anemia ORPHA:56

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Itga8

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Itga8.

No publications found that use IMPC mice or data for Itga8.

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MGI Allele Allele Type Produced
Itga8tm39262(L1L2_Pgk_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Itga8tm39262(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Itga8tm39262(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Itga8tm39262(L1L2_Pgk_PM) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Itga8tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Itga8tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Itga8tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, ES Cells

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