Gene Summary

Name:
GATA binding protein 2
Synonyms:
Gata-2

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
enlarged epididymis Gata2tm1b(KOMP)Wtsi HET Early adult 0.00
abnormal embryo size Gata2tm1b(KOMP)Wtsi HET E9.5 0.00
abnormal kidney morphology Gata2tm1b(KOMP)Wtsi HET Early adult 0.00
abnormal auditory brainstem response Gata2tm1b(KOMP)Wtsi HET   Early adult 2.22×10-06
embryonic growth retardation Gata2tm1b(KOMP)Wtsi HOM E9.5 0.00
embryonic lethality prior to tooth bud stage Gata2tm1b(KOMP)Wtsi HOM   E12.5 0.00
embryonic growth retardation Gata2tm1b(KOMP)Wtsi HET E9.5 0.00
absent epididymis Gata2tm1b(KOMP)Wtsi HET Early adult 0.00
abnormal embryo size Gata2tm1b(KOMP)Wtsi HOM E9.5 0.00
preweaning lethality, complete penetrance Gata2tm1b(KOMP)Wtsi HOM   Early adult 0.00
abnormal ovary morphology Gata2tm1b(KOMP)Wtsi HET Early adult 0.00
abnormal epididymis morphology Gata2tm1b(KOMP)Wtsi HET Early adult 0.00

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 50% (1 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Ileum  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vagina  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Vesicular gland  Section images heterozygote 50% (1 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote Not available
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Jejunum N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote Not available
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote Not available
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland 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)
Tongue N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
White adipose tissue N/A heterozygote Not available

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

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 3)
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
Ear N/A heterozygote 66.67% (2 of 3)
Embryo N/A heterozygote 66.67% (2 of 3)
Eye N/A heterozygote 66.67% (2 of 3)
Footplate N/A heterozygote 0.0% (0 of 3)
Forebrain N/A heterozygote 0.0% (0 of 3)
Forelimb N/A heterozygote 0.0% (0 of 3)
Gut N/A heterozygote 0.0% (0 of 2)
Handplate N/A heterozygote 0.0% (0 of 3)
Head N/A heterozygote 0.0% (0 of 3)
Heart N/A heterozygote 0.0% (0 of 3)
Hindbrain N/A heterozygote 0.0% (0 of 3)
Hindlimb N/A heterozygote 0.0% (0 of 3)
Liver N/A heterozygote 0.0% (0 of 3)
Lung N/A heterozygote 0.0% (0 of 3)
Mandibular process N/A heterozygote 0.0% (0 of 3)
Maxillary process N/A heterozygote 0.0% (0 of 3)
Midbrain N/A heterozygote 0.0% (0 of 3)
Nose N/A heterozygote 100% (2 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 3)
Chorioallantoic placenta N/A heterozygote 100% (2 of 2)
Skeleton N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 3)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Tail somite N/A heterozygote 0.0% (0 of 3)
Tail N/A heterozygote 0.0% (0 of 3)
Trachea N/A heterozygote 0.0% (0 of 2)
Urinary system N/A heterozygote 100% (2 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.72% (4 of 558)
aorta 0.18% (1 of 552)
blood 0.0%
bone marrow 0.0%
brain 0.73% (4 of 545)
brainstem 0.36% (2 of 548)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 552)
cecum 3.17% (11 of 347)
cerebellum 0.55% (3 of 548)
cerebral cortex 0.37% (2 of 545)
chest bone Unavailable
colon 9.17% (11 of 120)
diaphragm 0.0%
duodenum 0.88% (1 of 114)
epididymis 13.28% (17 of 128)
esophagus 1.57% (6 of 381)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.19% (1 of 540)
hindlimb 0.0%
hippocampus 0.55% (3 of 548)
hypothalamus 0.36% (2 of 548)
ileum 10.92% (13 of 119)
jejunum 4.96% (6 of 121)
kidney 3.52% (19 of 540)
large intestine 1.85% (10 of 540)
liver 0.0%
lower urinary tract 0.18% (1 of 558)
lung 0.18% (1 of 554)
lymph node 0.18% (1 of 549)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.36% (2 of 549)
ovary 0.19% (1 of 537)
oviduct 0.0%
pancreas 0.74% (4 of 543)
parathyroid gland 0.19% (1 of 528)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.18% (1 of 548)
peyers patch 0.0%
pituitary gland 0.18% (1 of 556)
prostate gland 2.18% (12 of 550)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.18% (1 of 551)
small intestine 1.64% (9 of 550)
spinal cord 0.54% (3 of 551)
spleen 0.54% (3 of 554)
stomach 1.83% (10 of 546)
stomach pyloric region 0.0%
striatum 0.55% (3 of 547)
sublingual gland 0.0%
submandibular gland 1.59% (2 of 126)
testis 1.08% (6 of 553)
thymus 0.18% (1 of 547)
thyroid gland 2.95% (16 of 543)
tongue 4.39% (5 of 114)
trachea 0.55% (3 of 547)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 4.11% (15 of 365)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

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

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

Anatomy Background staining in controls(WT)
axial skeleton 1.72% (1 of 58)
brain 1.09% (5 of 460)
central nervous system ganglion 1.56% (1 of 64)
ear 0.22% (1 of 462)
embryo 0.22% (1 of 460)
eye 0.22% (1 of 448)
footplate 0.22% (1 of 464)
forebrain 0.22% (1 of 450)
forelimb 0.22% (1 of 453)
gut 1.92% (1 of 52)
handplate 0.22% (1 of 449)
head 1.08% (5 of 461)
heart 0.23% (1 of 443)
hindbrain 1.1% (5 of 454)
hindlimb 0.22% (1 of 464)
liver 0.22% (1 of 448)
lung 0.22% (1 of 448)
mandibular process 0.22% (1 of 463)
maxillary process 0.22% (1 of 450)
midbrain 0.22% (1 of 453)
nose 1.43% (1 of 70)
oral cavity 0.22% (1 of 455)
placenta 14.29% (5 of 35)
skeleton 1.54% (1 of 65)
skin 0.21% (1 of 469)
spinal cord 0.0%
tail 0.22% (1 of 445)
tail somite group 0.22% (1 of 457)
trachea 1.89% (1 of 53)
urinary system 1.72% (1 of 58)

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

X-ray

XRay Images Hind Leg and Hip

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Adult LacZ

LacZ Images Section

27 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Forepaw

10 Images

Human diseases caused by Gata2 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 Gata2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Abnormal neutrophil count, Myeloproliferative disorder, Splenomegaly, Thrombocytope... ORPHA:3226
Lymphedema, Primary, With Myelodysplasia
Pancytopenia, Lymphedema, Leukemia OMIM:614038
Immunodeficiency 21
Neutropenia, Abnormal natural killer cell morphology, Myeloid leukemia, Aplastic anemia, Monocyto... OMIM:614172
Leukemia, Acute Myeloid
Acute myeloid leukemia OMIM:601626
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Leukocytosis ORPHA:98827
Myelodysplastic Syndrome
OMIM:614286

The table below shows human diseases predicted to be associated to Gata2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Diamond-Blackfan Anemia 19
Anemia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618312
Diamond-Blackfan Anemia-Like
Pure red cell aplasia, Steroid-responsive anemia OMIM:617911
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Diamond-Blackfan Anemia 13
Normocytic anemia, Elevated red cell adenosine deaminase level OMIM:615909
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Anemia, Hypochromia OMIM:205950
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Anemia, Hypochromia OMIM:206100
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Finger Locking, Recurrent, With Intrauterine Growth Retardation And Proportionate Short Stature
Short stature, Intrauterine growth retardation OMIM:135950
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Sideroblastic anemia, Hepatosplenomegaly, Pyridoxine-responsive sideroblastic anemia, Decreased m... OMIM:206000
Diamond-Blackfan Anemia 18
Neutropenia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618310
Heinz Body Anemias
Heinz bodies, Heinz body anemia, Nonspherocytic hemolytic anemia OMIM:140700
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly ORPHA:294
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Chromosome 5Q Deletion Syndrome
Anemia of inadequate production, Erythroid hypoplasia, Refractory macrocytic anemia OMIM:153550
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Hydronephrosis, Duplicated collecting system OMIM:163850
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Nephrotic syndrome, Renal sarcoma, Renal hypoplasia, Hydronephrosis, Mult... OMIM:143400
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Anemia ORPHA:2802
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Proteinuria, Renal hypoplasia, Stage 5 chronic kidney disease, Focal segmenta... OMIM:616002
Humero-Radio-Ulnar Synostosis
Abnormality of the ureter, Abnormality of the upper urinary tract ORPHA:3266
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane
Nonspherocytic hemolytic anemia OMIM:206300
Adenosine Triphosphatase Deficiency, Anemia Due To
Nonspherocytic hemolytic anemia OMIM:102800
Hemolytic Anemia With Thermal Sensitivity Of Red Cells
Congenital hemolytic anemia OMIM:235370
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain
Compensated hemolytic anemia OMIM:142309
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:612631
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Renal Caliceal Diverticuli-Deafness Syndrome
Hydronephrosis, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of... ORPHA:2838
Nephronophthisis
Anemia ORPHA:655
Hyperlysinemia, Type I
Anemia OMIM:238700
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Spastic Paraplegia And Evans Syndrome
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia OMIM:601608
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Oval macrocytosis, Anisocytosis, Poikilocytosis OMIM:603529
Glutathione Peroxidase Deficiency
Heinz bodies, Compensated hemolytic anemia OMIM:614164
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly OMIM:312500
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia, HbH hemoglobin OMIM:613978
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia ORPHA:231393
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Congenital Primary Megaureter
Nephrolithiasis, Abnormal penis morphology, Hydronephrosis, Abnormality of the upper urinary trac... ORPHA:617
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis OMIM:619398
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Anemia, Leukopenia, Thrombocytopenia OMIM:167850
Holzgreve Syndrome
Renal agenesis, Renal hypoplasia OMIM:236110
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter ORPHA:1450
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia OMIM:611283
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Reduced renal corticomedullary differentiation, Beta 2-microglobulinuria, Proteinuria, Renal hypo... OMIM:611555
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Horseshoe kidney, Hydronephrosis, Multicystic kidney dysplasia, Renal dysplasia, ... OMIM:617805
Anemia, Sideroblastic, 1
Anemia of inadequate production, Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic ... OMIM:300751
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Anemia, Sideroblastic, 5
Neutropenia, Anemia, Thrombocytopenia, Reduced hematocrit, Hypochromic microcytic anemia OMIM:619523
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Urofacial Syndrome 2
Hydronephrosis, Enuresis, Urinary urgency, Recurrent urinary tract infections, Renal insufficienc... OMIM:615112
Diamond-Blackfan Anemia 16
Anemia OMIM:617408
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Neonatal death, Renal hypoplasia, Renal cyst OMIM:228940
Thymic Aplasia With Fetal Death
Renal agenesis, Stillbirth, Ureteral agenesis OMIM:274210
Protoporphyria, Erythropoietic, 2
Iron deficiency anemia OMIM:618015
46,Xx Testicular Disorder Of Sex Development
Ambiguous genitalia, Male hypogonadism, Polycystic ovaries, Decreased testicular size ORPHA:393
Congenital Atransferrinemia
Anemia ORPHA:1195
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To
Hemolytic anemia OMIM:231900
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal cyst, Renal hypoplasia, Ureteral agenesis, Renal dysplasia, Neonatal death, Stillbirth OMIM:236500
Meier-Gorlin Syndrome 8
Renal hypoplasia, Decreased body weight OMIM:617564
Lower Limb Malformation-Hypospadias Syndrome
Abnormality of the ureter, Hypospadias ORPHA:2487
Eosinophilia, Familial
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia OMIM:131400
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Renal hypoplasia, Chronic kidney disease, Tubulointerstitial fibrosis, Renal tubular... OMIM:613092
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Diamond-Blackfan Anemia 9
Anemia OMIM:613308
Lessel-Kubisch Syndrome
Renal hypoplasia, Renal insufficiency OMIM:618681
Renal Hypoplasia
Unilateral renal agenesis, Abnormal renal tubule morphology, Abnormality of the ureter, Decreased... ORPHA:93101
Glutathione Synthetase Deficiency
Hemolytic anemia ORPHA:32
Erythroleukemia, Familial, Susceptibility To
Leukemia, Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Thrombocytopenia OMIM:133180
Diethylstilbestrol Syndrome
Epididymal cyst, Micropenis, Cryptorchidism, Abnormality of the uterus, Testicular dysgenesis, Ab... ORPHA:1916
Cyanosis, Transient Neonatal
Reticulocytosis, Anemia, Methemoglobinemia OMIM:613977
Gonadoblastoma
Abnormality of the ovary, Ovarian gonadoblastoma, Gonadal calcification, Ambiguous genitalia, Fem... ORPHA:206484
Acute Erythroid Leukemia
Pancytopenia, Anemia, Leukopenia, Erythroid hypoplasia ORPHA:318
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Anemia of inadequate production, Hemolytic anemia, Elliptocytosis OMIM:166910
Vesicoureteral Reflux 3
Hydronephrosis, Vesicoureteral reflux, Hydroureter OMIM:613674
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Diamond-Blackfan Anemia 20
Anemia, Erythroid hypoplasia OMIM:618313
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:230450
Congenital Anomalies Of Kidney And Urinary Tract 3
Hydronephrosis, Ectopic kidney, Vesicoureteral reflux, Renal cyst OMIM:618270
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Death in infancy, Hydroureter OMIM:618240
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydronephrosis, Hydroureter OMIM:264140
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Hydronephrosis, Abnormality of the urinary system ORPHA:2669
Macdermot-Winter Syndrome
Hydronephrosis, Death in infancy OMIM:247990
Dysmyelination With Jaundice
Hydronephrosis, Hypoplasia of penis, Hydroureter OMIM:224250
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Anemia, Hepatosplenomegaly OMIM:273680
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Preeclampsia/Eclampsia 1
Elevated hepatic transaminase, Edema, Hypertension, Thrombocytopenia OMIM:189800
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia, Extramedullary hematopoiesis OMIM:615285
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Megaloblastic anemia OMIM:243320
Hydrops Fetalis, Nonimmune
Anemia OMIM:236750
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Hydronephrosis, Hypospadias, Failure to thrive, Recurrent urinary tract infections, Neurogenic bl... OMIM:191800
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Anemia, Thrombocytopenia ORPHA:3319
Bone Marrow Failure Syndrome 2
Anemia, Leukopenia, Thrombocytopenia OMIM:615715
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Erythroid hyperplasia OMIM:237800
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hydronephrosis, Failure to thrive, Duplicated collecting system OMIM:617093
Testicular Regression Syndrome
Absent testis, Abnormal morphology of female internal genitalia, Aplasia/Hypoplasia of the testes... ORPHA:983
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Splenomegaly OMIM:206400
Bresek Syndrome
Renal hypoplasia, Renal dysplasia, Hypoplasia of the bladder, Neonatal death, Vesicoureteral reflux ORPHA:85284
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anisocytosis, Reduced red cell pyruvate kinase level, Anemia, Chronic hemolytic ane... ORPHA:766
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis OMIM:608898
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Premature Ovarian Failure 2A
Premature ovarian insufficiency OMIM:300511
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Facial palsy, Decreased motor nerve conduction velocity OMIM:601382
Anemia, Hypochromic Microcytic, With Iron Overload 2
Poikilocytosis, Splenomegaly, Anemia, Decreased mean corpuscular volume, Hypochromia OMIM:615234
Cenani-Lenz Syndactyly Syndrome
Renal agenesis, Renal hypoplasia OMIM:212780
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Heinz body anemia, Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis OMIM:141700
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia OMIM:616176
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Renal hypoplasia, Chronic kidney disease OMIM:617661
Spherocytosis, Type 3
Spherocytosis, Hemolytic anemia OMIM:270970
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Neutropenia, Anemia, Acute... OMIM:202700
Trimethylaminuria
Neutropenia, Anemia, Splenomegaly OMIM:602079
Pernicious Anemia
Megaloblastic anemia OMIM:170900
Thymic-Renal-Anal-Lung Dysplasia
Renal agenesis, Ureteral dysgenesis, Ureteral agenesis OMIM:274265
Urofacial Syndrome 1
Hydronephrosis, Enuresis, Urethral obstruction, Recurrent urinary tract infections, Hydroureter, ... OMIM:236730
Microcephaly 20, Primary, Autosomal Recessive
Renal hypoplasia, Hyperechogenic kidneys OMIM:617914
Bardet-Biedl Syndrome 3
Renal hypoplasia, Obesity OMIM:600151
46,Xx Ovotesticular Disorder Of Sex Development
Small scrotum, Polycystic ovaries, Abnormal morphology of female internal genitalia, Cryptorchidi... ORPHA:2138
Pyropoikilocytosis, Hereditary
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis OMIM:266140
Bleeding Disorder, Platelet-Type, 16
Macrothrombocytopenia, Platelet anisocytosis, Giant platelets, Anemia, Thrombocytopenia OMIM:187800
Diamond-Blackfan Anemia 12
Reticulocytopenia, Normochromic anemia, Macrocytic anemia, Elevated red cell adenosine deaminase ... OMIM:615550
Anemia, Congenital Dyserythropoietic, Type Ib
Splenomegaly, Anisocytosis, Anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate ... OMIM:615631
Split-Hand/Foot Malformation 3
Renal hypoplasia OMIM:246560
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia ORPHA:517
Refractory Anemia
Normocytic anemia, Neutropenia, Macrocytic anemia, Normochromic anemia, Anemia of inadequate prod... ORPHA:98826
Renal Coloboma Syndrome
Renal hypoplasia, Multicystic kidney dysplasia, Renal dysplasia, Renal insufficiency, Vesicourete... ORPHA:1475
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase level, Increased mean corpuscular volume, Macrocytic anemia... OMIM:610629
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Pancytopenia, Acute myeloid leukemia, Neutropenia, Anemia, Increased mean corpuscular volume, Thr... OMIM:619041
Hinman Syndrome
Hydronephrosis, Enuresis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral... ORPHA:84085
Vacterl Association With Hydrocephalus
Renal hypoplasia, Stillbirth OMIM:276950
Tetragametic Chimerism
Perineal hypospadias, Ovotestis, Micropenis, Cryptorchidism, Abnormality of the ovary, True herma... ORPHA:199310
Congenital Megacalycosis
Enlarged kidney, Renal cyst, Nephrolithiasis, Hematuria, Hydronephrosis, Tubulointerstitial nephr... ORPHA:93109
Alpha-Thalassemia
Microcytic anemia, Splenomegaly, Anemia, Hemolytic anemia, Abnormal hemoglobin, Hypersplenism ORPHA:846
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia OMIM:618660
Immunodeficiency, Common Variable, 6
Enlarged kidney, Mesangial Immune complex deposition, Hydronephrosis, Glomerulonephritis, Macrosc... OMIM:613496
Hadziselimovic Syndrome
Renal hypoplasia, Failure to thrive OMIM:612946
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Anemia, Congenital Dyserythropoietic, Type Ia
Poikilocytosis, Splenomegaly, Anisocytosis, Erythroid hyperplasia, Reticulocytosis, Anemia of ina... OMIM:224120
Orofaciodigital Syndrome Xvii
Micropenis, Renal hypoplasia, Decreased body weight OMIM:617926
Cryohydrocytosis
Reticulocytosis, Splenomegaly, Hemolytic anemia, Stomatocytosis OMIM:185020
Fanconi Anemia, Complementation Group T
Pancytopenia, Anemia, Thrombocytopenia OMIM:616435
Renal Dysplasia
Ureteral atresia, Functional abnormality of the bladder, Hydronephrosis, Multicystic kidney dyspl... ORPHA:93108
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Renal agenesis, Micropenis, Renal hypoplasia, Obesity, Hypospadias ORPHA:171839
X-Linked Intellectual Disability, Schimke Type
Hydronephrosis, Vesicoureteral reflux, Failure to thrive in infancy ORPHA:85285
Iron-Refractory Iron Deficiency Anemia
Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia OMIM:206200
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Premature ovarian insufficiency ORPHA:75325
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Renal agenesis, Hydronephrosis, Renal hypoplasia OMIM:618494
Nephronophthisis 13
Nephronophthisis, Renal hypoplasia, Stage 5 chronic kidney disease, Mild proteinuria OMIM:614377
Verheij Syndrome
Renal agenesis, Renal hypoplasia, Renal cyst OMIM:615583
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Abnormality of the ureter, Hypospadias, Hypoplasia of penis, Renal hypoplasia/aplasia ORPHA:1046
Ovarian Dysgenesis 2
Gonadal hypoplasia, Abnormality of the uterus, Premature ovarian insufficiency, Hypergonadotropic... OMIM:300510
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Anisocytosis, Neutrope... OMIM:300835
Atransferrinemia
Hypochromic anemia OMIM:209300
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Anisocytosis, Abnormal mean co... ORPHA:3203
Adenosine deaminase, elevated, hemolytic anemia due to
Stomatocytosis, Hemolytic anemia, Anisopoikilocytosis, Elevated red cell adenosine deaminase level OMIM:102730
Fanconi Anemia, Complementation Group G
Neutropenia, Anemia, Thrombocytopenia, Leukemia OMIM:614082
Combined Oxidative Phosphorylation Deficiency 11
Renal tubular acidosis, Renal cyst, Renal hypoplasia, Renal dysplasia, Renal insufficiency, Death... OMIM:614922
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Renal hypoplasia, Urethral obstruction, Renal dysplasia, Hypertrophy of the urinary bladder OMIM:601389
Meckel Syndrome 12
Renal agenesis, Renal hypoplasia, Ureteral hypoplasia OMIM:616258
Fetal Parvovirus Syndrome
Anemia, Thrombocytopenia ORPHA:295
Joubert Syndrome 22
Renal hypoplasia OMIM:615665
Even-Plus Syndrome
Renal hypoplasia, Recurrent urinary tract infections, Vesicoureteral reflux OMIM:616854
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Hydronephrosis, Ureteral atresia OMIM:183802
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Renal hypoplasia, Obesity, Vesicoureteral reflux ORPHA:464288
Papillorenal Syndrome
Renal cyst, Horseshoe kidney, Nephrolithiasis, Renal malrotation, Proteinuria, Renal hypoplasia, ... OMIM:120330
Cat-Eye Syndrome
Abnormal localization of kidney, Hydronephrosis, Renal hypoplasia/aplasia ORPHA:195
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment OMIM:600501
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Renal hypoplasia, Hypoplasia of penis ORPHA:2256
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Chronic hemolytic anemia, Elliptocytosis OMIM:617948
Imerslund-Grasbeck Syndrome 2
Megaloblastic anemia OMIM:618882
Distal Trisomy 6P
Hydronephrosis, Renal hypoplasia, Abnormality of the urinary system ORPHA:1745
Thrombocytopenia 5
Neutropenia, Anemia, Thrombocytopenia OMIM:616216
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Hydronephrosis, Decreased body weight, Vesicoureteral reflux OMIM:618265
Acrorenal Syndrome, Autosomal Recessive
Renal hypoplasia, Decreased numbers of nephrons, Renal insufficiency OMIM:201310
Alagille Syndrome 2
Renal cyst, Renal tubular acidosis, Hematuria, Proteinuria, Renal hypoplasia, Renal insufficiency OMIM:610205
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydronephrosis, Megacystis, Hydroureter, Neonatal death, Fetal megacystis OMIM:619362
Premature Ovarian Failure 16
Premature ovarian insufficiency, Elevated circulating follicle stimulating hormone level, Reduced... OMIM:618723
Spherocytosis, Type 5
Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612690
Formiminoglutamic Aciduria
Megaloblastic anemia, Anemia ORPHA:51208
Immunodeficiency 69
Pancytopenia, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Splenomegaly, Anemia OMIM:618963
Brain Malformations With Or Without Urinary Tract Defects
Hydronephrosis, Renal hypoplasia, Vesicoureteral reflux OMIM:613735
Image Syndrome
Hydronephrosis, Hypospadias ORPHA:85173
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Glomerular sclerosis, Decreased glomerular filtration rate, Renal hypoplasia, Renal salt wasting,... OMIM:174000
Oligomeganephronia
Unilateral renal agenesis, Abnormality of medullary pyramid morphology, Small for gestational age... ORPHA:2260
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly OMIM:224100
Mungan Syndrome
Renal hypoplasia, Vesicoureteral reflux OMIM:611376
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of somatosensory evoked potentials, Sensorineural hearing impairment, Abnormal audito... ORPHA:320401
Bone Marrow Failure Syndrome 5
Anemia, Pure red cell aplasia OMIM:618165
Cernunnos-Xlf Deficiency
T lymphocytopenia, Thrombocytopenia, Anemia, B lymphocytopenia, Lymphopenia ORPHA:169079
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Acanthocytosis, Hemolytic anem... OMIM:616689
Premature Ovarian Failure 1
Premature ovarian insufficiency, Increased circulating gonadotropin level OMIM:311360
Wolfram Syndrome, Mitochondrial Form
Hydronephrosis, Hydroureter OMIM:598500
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Unilateral renal agenesis, Death in infancy, Bilateral renal agenesis, Ureteral atresia OMIM:618845
Elliptocytosis 2
Reticulocytosis, Hemolytic anemia, Elliptocytosis OMIM:130600
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Premature Ovarian Failure 19
Premature ovarian insufficiency OMIM:619245
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Hepatic Adenomas, Familial
Polycystic ovaries OMIM:142330
Renal And Mullerian Duct Hypoplasia
Renal hypoplasia, Anteriorly displaced urethral meatus, Horseshoe kidney OMIM:266810
Prune Belly Syndrome
Abnormality of the ureter, Renal insufficiency, Multicystic kidney dysplasia, Failure to thrive, ... ORPHA:2970
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Renal hypoplasia, Small for gestational age OMIM:616817
Matthew-Wood Syndrome
Renal hypoplasia, Failure to thrive, Horseshoe kidney, Vesicoureteral reflux ORPHA:2470
Fanconi Anemia, Complementation Group I
Decreased body weight, Horseshoe kidney, Renal hypoplasia, Vesicoureteral reflux, Abnormal renal ... OMIM:609053
Beta-Mercaptolactate Cysteine Disulfiduria
Abnormality of the ureter, Obesity ORPHA:1035
Premature Ovarian Failure 9
Premature ovarian insufficiency, Increased circulating gonadotropin level OMIM:615724
Premature Ovarian Failure 3
Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Premature Ovarian Failure 5
Premature ovarian insufficiency, Hypoplasia of the ovary, Streak ovary, Reduced antral follicle c... OMIM:611548
Orofaciodigital Syndrome Xv
Hydronephrosis OMIM:617127
Dohle Bodies And Leukemia
Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies OMIM:223350
Ochoa Syndrome
Hydronephrosis, Urethral obstruction, Recurrent urinary tract infections, Renal insufficiency, Ur... ORPHA:2704
Senior-Loken Syndrome 1
Anemia OMIM:266900
Penoscrotal Transposition
Renal agenesis, Abnormality of the ureter, Renal dysplasia, Abnormality of the urethra, Hypospadi... ORPHA:2842
Intellectual Developmental Disorder, Autosomal Dominant 42
Hydronephrosis, Failure to thrive OMIM:616973
Hemolytic Anemia, Congenital, X-Linked
Hemolytic anemia OMIM:301015
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
8P23.1 Duplication Syndrome
Hydronephrosis ORPHA:251076
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Unilateral renal agenesis, Renal agenesis, Ectopic kidney, Bifid ureter, Horseshoe kidney, Decrea... OMIM:617641
Posterior Urethral Valve
Fetal pyelectasis, Pyelonephritis, Urinary retention, Enuresis nocturna, Dysuria, Hydronephrosis,... ORPHA:93110
Diamond-Blackfan Anemia 4
Neutropenia, Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia OMIM:612527
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Proteinuria, Renal hypoplasia, Glomerulonephritis, Chronic tubulointerstitial nephritis, Stage 5 ... OMIM:614376
Burn-Mckeown Syndrome
Renal hypoplasia OMIM:608572
Adams-Oliver Syndrome 6
Renal hypoplasia OMIM:616589
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, EEG abnormality, Sensorineural hearing impairment OMIM:617519
Fanconi Anemia, Complementation Group O
Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease OMIM:613390
Transaldolase Deficiency
Hepatosplenomegaly, Hydrops fetalis, Anemia, Cirrhosis, Telangiectasia, Edema, Thrombocytopenia ORPHA:101028
Ataxia-Pancytopenia Syndrome
Pancytopenia, Hypoplastic anemia, Neutropenia, Anemia, Thrombocytopenia, Acute myelomonocytic leu... OMIM:159550
Fowler Urethral Sphincter Dysfunction Syndrome
Urinary retention, Polycystic ovaries, Dysuria, Abnormality of the ovary, Urinary incontinence, A... ORPHA:2795
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Anemia of inadequate production, Congenital thrombocytopenia, Poikilocytosis, Acanthocytosis OMIM:300367
Spherocytosis, Type 2
Splenomegaly, Acanthocytosis, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:616649
Perrault Syndrome 6
Hypoplasia of the uterus, Sensorineural hearing impairment, Premature ovarian insufficiency, Stre... OMIM:617565
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Thrombocytos... ORPHA:75564
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevated circulating follicle... OMIM:612964
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hydronephrosis, Renal hypoplasia, Aminoaciduria OMIM:617913
Amyloidosis, Familial Visceral
Cholestasis, Splenomegaly, Hepatomegaly, Hypertension, Edema OMIM:105200
Myopathy, Congenital, Progressive, With Scoliosis
Hydronephrosis, Renal atrophy OMIM:618578
Rudiger Syndrome
Micropenis, Bicornuate uterus, Ureterovesical stenosis, Ovarian cyst OMIM:268650
Silver-Russell Syndrome 1
Abnormality of the ureter, Small for gestational age, Congenital posterior urethral valve, Nephro... OMIM:180860
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Ketonuria, Renal hypoplasia OMIM:619053
Spherocytosis, Type 4
Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612653
Malaria
Anemia, Thrombocytopenia ORPHA:673
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Renal hypoplasia, Renal dysplasia, Hypoplasia of penis, Renal insufficiency ORPHA:85321
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Anemia ORPHA:371
Solute carrier family 4 (anion exchanger), member 1
Splenomegaly, Acanthocytosis, Spherocytosis, Hemolytic anemia, Elliptocytosis, Stomatocytosis, Re... OMIM:109270
12Q14 Microdeletion Syndrome
Renal hypoplasia, Failure to thrive, Horseshoe kidney, Ectopic kidney ORPHA:94063
Fanconi Anemia, Complementation Group V
Neutropenia, Anemia, Thrombocytopenia OMIM:617243
6P22 Microdeletion Syndrome
Hydronephrosis ORPHA:251046
Prune Belly Syndrome
Urethral valve, Hydronephrosis, Congenital posterior urethral valve, Hydroureter OMIM:100100
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Anisocytosis, Splenomegaly, Anemia, Erythroid hyperplasia, Decreased mean cor... OMIM:616860
Erythrocytosis, Familial, 8
Normocytic anemia, Splenomegaly, Nonspherocytic hemolytic anemia, Polycythemia, Normochromic anemia OMIM:222800
Cach Syndrome
Renal hypoplasia ORPHA:135
Immunodeficiency 46
Neutropenia, Anemia, Intermittent thrombocytopenia OMIM:616740
Focal Segmental Glomerulosclerosis 1
Anemia OMIM:603278
Distal Limb Deficiencies-Micrognathia Syndrome
Renal hypoplasia, Renal insufficiency, Proteinuria ORPHA:1307
Joubert Syndrome 35
Multicystic kidney dysplasia, Hydronephrosis, Recurrent urinary tract infections, Renal fibrosis OMIM:618161
Oslam Syndrome
Anemia OMIM:165660
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... OMIM:613673
Fanconi Anemia, Complementation Group W
Renal hypoplasia OMIM:617784
Emanuel Syndrome
Micropenis, Renal hypoplasia, Renal agenesis OMIM:609029
Urban-Rogers-Meyer Syndrome
Abnormality of the ureter, Obesity, Hypoplasia of penis ORPHA:3409
Xanthinuria, Type I
Hydronephrosis, Pyelonephritis, Xanthine nephrolithiasis, Xanthinuria OMIM:278300
Lesch-Nyhan Syndrome
Anemia ORPHA:510
Fraser Syndrome 2
Renal agenesis, Renal hypoplasia, Aplasia of the bladder OMIM:617666
Bor Syndrome
Renal hypoplasia/aplasia, Hydronephrosis, Multicystic kidney dysplasia, Ureteropelvic junction ob... ORPHA:107
Ovarian Fibroma
Abnormality of the ovary, Ovarian fibroma, Gonadal calcification ORPHA:314473
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Glycosuria, Renal cyst, Nephrolithiasis, Decreased numbers of nephrons... OMIM:137920
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Renal hypoplasia ORPHA:75389
Igg4-Related Retroperitoneal Fibrosis
Nephrotic syndrome, Unilateral renal hypoplasia, Acute kidney injury, Dysuria, Hydronephrosis, He... ORPHA:49041
Elliptocytosis 1
Elliptocytosis, Splenomegaly, Hemolytic anemia OMIM:611804
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:266120
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Leukopenia, Refractory anemia, Monocytosis OMIM:616871
Caudal Duplication Anomaly
Ureteral duplication OMIM:607864
Rh-Null, Regulator Type
Hemolytic anemia, Stomatocytosis OMIM:268150
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy OMIM:125250
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia ORPHA:3204
Fanconi Anemia, Complementation Group F
Renal hypoplasia, Failure to thrive, Pelvic kidney, Microphallus, Vesicoureteral reflux OMIM:603467
Endove Syndrome, Limb-Brain Type
Hydronephrosis, Failure to thrive, Recurrent urinary tract infections, Neurogenic bladder OMIM:619218
Pallister-Hall Syndrome
Ectopic kidney, Renal cyst, Micropenis, Hydronephrosis, Renal hypoplasia, Renal dysplasia, Hydrou... OMIM:146510
Premature Ovarian Failure 10
Azoospermia, Elevated circulating luteinizing hormone level, Decreased testicular size, Elevated ... OMIM:612885
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Renal hypoplasia, Vesicoureteral reflux OMIM:617660
Ureter, Bifid Or Double
Ureteral duplication OMIM:191550
Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies
Hydronephrosis, Ureteropelvic junction obstruction, Renal hypoplasia, Failure to thrive in infancy OMIM:618975
Atresia Of Urethra
Hydronephrosis, Dilatation of the bladder, Patent urachus, Megacystis, Renal dysplasia, Recurrent... ORPHA:105
Senior-Boichis Syndrome
Reduced renal corticomedullary differentiation, Abnormal renal insterstitial morphology, Renal hy... ORPHA:84081
Dehydrated Hereditary Stomatocytosis
Schistocytosis, Reticulocytosis, Macrocytic anemia, Increased mean corpuscular hemoglobin concent... ORPHA:3202
Osteopetrosis, Autosomal Recessive 8
Anemia, Splenomegaly, Thrombocytopenia OMIM:615085
Hereditary Xanthinuria
Hematuria, Acute kidney injury, Xanthinuria, Hydronephrosis, Decreased urinary urate, Increased u... ORPHA:3467
Familial Pseudohyperkalemia
Reticulocytosis, Episodic hemolytic anemia, Increased mean corpuscular volume, Stomatocytosis ORPHA:90044
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Renal hypoplasia/aplasia, Hydronephrosis, Multicystic kidney dysplasia, Displacement of the ureth... ORPHA:2973
Mu-Heavy Chain Disease
Abnormal B cell count, Anemia, Splenomegaly ORPHA:100024
Developmental Delay With Or Without Dysmorphic Facies And Autism
Renal cyst, Hydronephrosis, Renal hypoplasia, Microphallus, Vesicoureteral reflux OMIM:618454
Emanuel Syndrome
Unilateral renal agenesis, Renal hypoplasia, Failure to thrive, Micropenis ORPHA:96170
Diabetes Insipidus, Neurohypophyseal, X-Linked
Hydronephrosis, Polyuria OMIM:304900
Caudal Regression Syndrome
Renal agenesis, Ectopic kidney, Abnormality of the ureter, Ureteral duplication, Renal insufficie... ORPHA:3027
Congenital Disorder Of Glycosylation, Type Iig
Hydronephrosis, Hypospadias, Failure to thrive in infancy, Renal insufficiency OMIM:611209
Ureterocele
Duplicated collecting system, Ureterocele OMIM:191650
Khan-Khan-Katsanis Syndrome
Hydronephrosis, Failure to thrive, Renal hypoplasia, Vesicoureteral reflux OMIM:618460
Erythrocytosis, Familial, 5
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617907
Erythrocytosis, Familial, 6
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617980
Rosaï-Dorfman Disease
Anemia ORPHA:158014
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Renal hypoplasia, Renal cyst, Hypospadias, Polycystic kidney dysplasia OMIM:614091
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia OMIM:603552
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Renal hypoplasia OMIM:618914
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Vesicoureteral reflux, Nephrolithiasis, Hydroureter OMIM:617219
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Splenomegaly, Nonspherocytic hemolytic anemia, Reticulocytosis, Normochromic a... OMIM:235700
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity OMIM:601455
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Abnormality of the bladder, Hypoplasia of penis, Abnormality of the upper urinary tract, Hydroureter ORPHA:2547
Diamond-Blackfan Anemia 5
Reticulocytopenia, Leukopenia, Erythroid hypoplasia, Macrocytic anemia OMIM:612528
Bone Marrow Failure Syndrome 6
Neutropenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Duplication Of Urethra
Bladder duplication, Penile hypospadias, Chordee, Unilateral renal hypoplasia, Dysuria, Micropeni... ORPHA:237
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormality of the ureter, Hypospadias ORPHA:2522
Diabetic Embryopathy
Micropenis, Hydronephrosis, Ureteral duplication, Renal hypoplasia/aplasia ORPHA:1926
Primary Hyperoxaluria Type 2
Nephrocalcinosis, Nephrolithiasis, Recurrent urinary tract infections, Ureteral obstruction, Rena... ORPHA:93599
Marden-Walker Syndrome
Micropenis, Renal hypoplasia, Hypospadias OMIM:248700
Glycogen Storage Disease Iv
Hepatic failure, Portal hypertension, Hepatosplenomegaly, Hydrops fetalis, Polyhydramnios, Cardio... OMIM:232500
Premature Ovarian Failure 8
Elevated circulating luteinizing hormone level, Ovarian neoplasm, Elevated circulating follicle s... OMIM:615723
Fanconi Anemia, Complementation Group L
Micropenis, Renal hypoplasia OMIM:614083
Autosomal Erythropoietic Protoporphyria
Microcytic anemia, Cholelithiasis, Decreased liver function, Cirrhosis, Edema ORPHA:79278
Axial Mesodermal Dysplasia Spectrum
Renal cyst, Abnormality of the ureter, Hydronephrosis, Abnormal localization of kidney, Abnormali... ORPHA:1834
Senior-Loken Syndrome 4
Anemia OMIM:606996
Tetraploidy
Hydronephrosis, Renal hypoplasia/aplasia ORPHA:3305
Anemia, Congenital Dyserythropoietic, Type Iiia
Anemia of inadequate production, Congenital hypoplastic anemia, Macrocytic anemia OMIM:105600
Exstrophy-Epispadias Complex
Abnormality of the ureter, Horseshoe kidney, Bifid penis, Bladder fistula, Renal duplication, Ren... ORPHA:322
Short Stature, Microcephaly, And Endocrine Dysfunction
Unilateral renal agenesis, Ectopic kidney, Micropenis, Renal hypoplasia, Truncal obesity OMIM:616541
Aredyld Syndrome
Abnormality of the ureter, Cachexia ORPHA:1133
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Micropenis, Hydronephrosis, Renal cyst, Renal dysplasia OMIM:615287
Desmoid Tumor
Hydronephrosis, Abnormality of the upper urinary tract ORPHA:873
Spherocytosis, Type 1
Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:182900
Charcot-Marie-Tooth Disease, Type 4C
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Prolonged brainstem... OMIM:601596
Duane-Radial Ray Syndrome
Renal agenesis, Horseshoe kidney, Renal malrotation, Crossed fused renal ectopia, Hydronephrosis,... OMIM:607323
Bladder Exstrophy
Abnormality of the ureter, Bladder exstrophy, Hypoplasia of penis, Recurrent urinary tract infect... ORPHA:93930
Klippel-Trénaunay Syndrome
Microcytic anemia, Gastrointestinal hemorrhage, Congestive heart failure, Hydrops fetalis, Pulmon... ORPHA:90308
Overhydrated Hereditary Stomatocytosis
Reticulocytosis, Splenomegaly, Hemolytic anemia, Stomatocytosis OMIM:185000
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Renal cyst, Ureteral atresia, Hydronephrosis, Renal hypoplasia, Multic... OMIM:614527
Von Hippel-Lindau Syndrome
Tinnitus, Epididymal cyst, Papillary cystadenoma of the epididymis, Pancreatic cysts, Sensorineur... OMIM:193300
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Neutropenia, Anemia, Congenital thrombocytopenia, Thrombocytopenia OMIM:616738
Penile Agenesis
Fetal pyelectasis, Urethral atresia, male, Cystic renal dysplasia, Urethral fistula, Unilateral r... ORPHA:49
Ovarian Fibrothecoma
Abnormality of the endometrium, Ovarian fibroma, Gonadal calcification, Abnormality of the ovary ORPHA:314478
Stromme Syndrome
Hydronephrosis, Bilateral renal hypoplasia, Stillbirth OMIM:243605
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Abnormality of the ureter, Renal hypoplasia/aplasia ORPHA:1770
Joubert Syndrome 37
Micropenis, Hydronephrosis, Obesity OMIM:619185
Microphthalmia, Syndromic 9
Horseshoe kidney, Renal malrotation, Hydronephrosis, Renal hypoplasia, Pelvic kidney OMIM:601186
Trisomy 13
Hydronephrosis, Abnormality of the ureter, Displacement of the urethral meatus, Multiple renal cysts ORPHA:3378
Endove Syndrome, Limb-Only Type
Hydronephrosis, Vesicoureteral reflux OMIM:619217
Weyers Ulnar Ray/Oligodactyly Syndrome
Hydronephrosis OMIM:602418
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydronephrosis, Enlarged kidney, Urethral atresia OMIM:314390
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Anemia, Thrombocytopenia OMIM:613101
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydroureter, Hydronephrosis, Megacystis OMIM:619431
Rauch-Steindl Syndrome
Failure to thrive, Bilateral renal hypoplasia, Hyperechogenic kidneys OMIM:619695
Wolfram Syndrome 1
Hydroureter, Hydronephrosis, Neurogenic bladder OMIM:222300
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Anemia ORPHA:2668
Premature Ovarian Failure 18
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:619203
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter, Premature ovarian insufficiency OMIM:617175
Ventriculomegaly With Defects Of The Radius And Kidney
Renal agenesis, Ectopic kidney, Horseshoe kidney, Ureteral duplication OMIM:602200
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... OMIM:612310
Basel-Vanagaite-Smirin-Yosef Syndrome
Hydronephrosis, Hypospadias OMIM:616449
Idiopathic Aplastic Anemia
Pancytopenia, Neutropenia, Anemia, Reticulocytopenia, Thrombocytopenia ORPHA:88
Caudal Duplication
Renal hypoplasia/aplasia, Ureteral duplication, Abnormal penis morphology ORPHA:1756
Vitamin B12-Responsive Methylmalonic Acidemia
Anemia ORPHA:28
Renal Dysplasia-Limb Defects Syndrome
Neonatal death, Renal hypoplasia, Renal dysplasia OMIM:266910
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Anemia, Increased mean corpuscular volume, Abnormal erythrocyte morphology, Poikilo... ORPHA:98870
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Hydronephrosis, Failure to thrive ORPHA:488613
Red Cell Permeability Defect