Gene Summary

Name:
SET domain containing 6
Synonyms:
0610039J04Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased mean corpuscular hemoglobin Setd6tm1.1(KOMP)Mbp HOM Late adult 1.13×10-05
sclerocornea Setd6tm1.1(KOMP)Mbp HOM Early adult 5.03×10-12
increased circulating alanine transaminase level Setd6tm1.1(KOMP)Mbp HOM Early adult 4.43×10-05
increased circulating potassium level Setd6tm1.1(KOMP)Mbp HOM Early adult 5.65×10-05
female infertility Setd6tm1.1(KOMP)Mbp HOM Early adult 0.00
increased heart weight Setd6tm1.1(KOMP)Mbp HOM Early adult 7.08×10-05
hyperactivity Setd6tm1.1(KOMP)Mbp HOM Early adult 5.82×10-09
decreased mean corpuscular volume Setd6tm1.1(KOMP)Mbp HOM Late adult 2.67×10-07
increased erythrocyte cell number Setd6tm1.1(KOMP)Mbp HOM Late adult 6.20×10-08
increased circulating bilirubin level Setd6tm1.1(KOMP)Mbp HOM Early adult 2.98×10-05
increased circulating aspartate transaminase level Setd6tm1.1(KOMP)Mbp HOM Early adult 2.18×10-07
decreased thigmotaxis Setd6tm1.1(KOMP)Mbp HOM Early adult 4.59×10-05

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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 100% (2 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Cartilage tissue  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Cerebral cortex  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Hippocampus  Section images heterozygote 100% (2 of 2)
Hypothalamus  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Peripheral nervous system  Section images heterozygote 100% (2 of 2)
Pituitary gland  Section images heterozygote 100% (2 of 2)
Skeletal muscle  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Striatum  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 100% (2 of 2)
Thyroid gland  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vascular system  Section images heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Thymus N/A heterozygote 0.0% (0 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
Embryo N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Dorsal root ganglion N/A heterozygote 0.0% (0 of 2)
Ear N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 100% (2 of 2)
Footplate N/A heterozygote 0.0% (0 of 2)
Forebrain N/A heterozygote 0.0% (0 of 2)
Forelimb N/A heterozygote 0.0% (0 of 2)
Fronto-nasal process N/A heterozygote 0.0% (0 of 2)
Handplate N/A heterozygote 0.0% (0 of 2)
Head N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote Ambiguous
Mandibular process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Nose N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail N/A heterozygote 0.0% (0 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 585)
aorta 0.17% (1 of 585)
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
epididymis 13.43% (18 of 134)
esophagus 1.71% (7 of 409)
eye 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
submandibular gland 1.52% (2 of 132)
testis 1.03% (6 of 585)
thalamus 0.0%
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
urinary bladder 0.0%
uterus 0.0%
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)
brain 1.18% (6 of 508)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)

Associated Images

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

Adult LacZ

LacZ Images Section

39 Images

X-ray

XRay Images Whole Body Dorso Ventral

15 Images

X-ray

XRay Images Skull Lateral Orientation

15 Images

Electrocardiogram (ECG)

Waveform Image

17 Images

X-ray

XRay Images Forepaw

15 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

15 Images

Eye Morphology

Images Slit Lamp

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

Sleep Wake

Wake state (bmp file)

4 Images

Eye Morphology

Images Ophthalmoscopy

2 Images

Auditory Brain Stem Response

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

8 Images

Human diseases caused by Setd6 mutations

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

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

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

The table below shows human diseases predicted to be associated to Setd6 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Diamond-Blackfan Anemia 19
Anemia, Steroid-responsive anemia, Erythroid hypoplasia OMIM:618312
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Erythrocytosis, Familial, 3
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:609820
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Erythrocytosis, Familial, 4
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:611783
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Anemia, Sideroblastic, 4
Abnormal erythrocyte morphology, Sideroblastic anemia OMIM:182170
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... OMIM:603902
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Diamond-Blackfan Anemia 13
Elevated red cell adenosine deaminase level, Normocytic anemia OMIM:615909
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Heinz Body Anemias
Heinz bodies, Heinz body anemia, Nonspherocytic hemolytic anemia OMIM:140700
Diamond-Blackfan Anemia 3
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:610629
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Polycythemia Vera
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... OMIM:263300
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Hyperbilirubinemia OMIM:618660
Erythrocytosis, Familial, 8
Normocytic anemia, Polycythemia, Normochromic anemia, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:222800
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:205950
Pericardial Effusion, Chronic
Polycythemia OMIM:260900
Crigler-Najjar Syndrome Type 2
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79235
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:206100
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... OMIM:206000
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegaly, Increased m... OMIM:616689
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Erythrocytosis, Familial, 1
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly OMIM:133100
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... OMIM:619041
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Rotor Syndrome
Conjugated hyperbilirubinemia, Conjunctival icterus, Hyperbilirubinemia ORPHA:3111
Familial Pseudohyperkalemia
Stomatocytosis, Episodic hemolytic anemia, Reticulocytosis, Increased mean corpuscular volume ORPHA:90044
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Brittle Cornea Syndrome 2
Decreased corneal thickness, Gait disturbance, Flat cornea, Sclerocornea, Keratoglobus, Megalocor... OMIM:614170
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume OMIM:261000
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Malaria
Elevated circulating C-reactive protein concentration, Gait imbalance, Hyperbilirubinemia ORPHA:673
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly OMIM:185020
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia, Splenomegaly OMIM:179700
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Splenomegaly, Erythroid hyperplasia, Anemia of inadequate production OMIM:237800
Anterior Segment Dysgenesis 5
Developmental cataract, Posterior embryotoxon, Hypoplasia of the iris, Sclerocornea, Rieger anoma... OMIM:604229
Erythrocytosis, Familial, 2
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:263400
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Anterior Segment Dysgenesis 7
Buphthalmos, Sclerocornea, Cataract, Microcornea, Ocular anterior segment dysgenesis OMIM:269400
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production OMIM:603529
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Mental Retardation, Autosomal Dominant 52
Hyperactivity, Anxiety OMIM:617796
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Thrombocythemia 2
Thrombocytosis OMIM:601977
Premature Ovarian Failure 19
Secondary amenorrhea, Female infertility, Irregular menstruation, Premature ovarian insufficiency OMIM:619245
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Progressive cerebellar ataxia, Corneal opacity, Ataxia, Corneal dystrophy ORPHA:3177
Alpha-Thalassemia
Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia ORPHA:846
Anemia, Congenital Dyserythropoietic, Type Iv
Hypertrophic cardiomyopathy, Hepatomegaly, Hyperbilirubinemia, Splenomegaly OMIM:613673
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Phenylketonuria
Blue irides, Aggressive behavior, Self-mutilation, Hyperphenylalaninemia, Attention deficit hyper... OMIM:261600
Crigler-Najjar Syndrome Type 1
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79234
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
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane
Nonspherocytic hemolytic anemia OMIM:206300
Spherocytosis, Type 5
Reticulocytosis, Hemolytic anemia, Spherocytosis, Splenomegaly OMIM:612690
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... ORPHA:3203
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:612631
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Elliptocytosis 2
Reticulocytosis, Hemolytic anemia, Elliptocytosis OMIM:130600
Congenital Primary Aphakia
Sclerocornea, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye ORPHA:83461
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... ORPHA:232
Thrombocythemia 3
Thrombocytosis OMIM:614521
Glycine Encephalopathy
Aggressive behavior, Hyperglycinemia, Hyperactivity, Irritability, Impulsivity, Lethargy OMIM:605899
Anterior Segment Dysgenesis 2
Anterior segment of eye aplasia, Sclerocornea, Congenital aphakia, Aniridia, Peters anomaly, Post... OMIM:610256
Diamond-Blackfan Anemia 8
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume OMIM:612563
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Anemia, Splenomegaly, Anisoc... ORPHA:766
Anemia, Congenital Dyserythropoietic, Type Ia
Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Macrocytic dy... OMIM:224120
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk, Irritability OMIM:616657
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Mental Retardation, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hypercholesterolemia, Hypertriglycer... OMIM:605814
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Anemia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Anemi... OMIM:615631
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia, Hepatomegaly, Splenomegaly, Ataxia, Inability to walk, Cataract OMIM:608885
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Splenomegaly, Anemia of inadequate production OMIM:224100
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentration, Increase... OMIM:616278
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Progesterone Resistance
Female infertility OMIM:264080
Sclerocornea, Autosomal Dominant
Sclerocornea OMIM:181700
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Tempi Syndrome
Polycythemia, Increased hematocrit ORPHA:284227
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Hyperprolinemia, Type I
Hyperprolinemia, Hyperactivity, Aggressive behavior, Ataxia OMIM:239500
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Microphthalmia, Isolated, With Coloboma 9
Sclerocornea, Microcornea, Ocular anterior segment dysgenesis, Iris coloboma OMIM:615145
Spherocytosis, Type 2
Acanthocytosis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia OMIM:616649
Microphthalmia, Isolated 3
Sclerocornea OMIM:611038
Isolated Polycystic Liver Disease
Hepatomegaly, Increased total bilirubin ORPHA:2924
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Spherocytosis, Type 4
Reticulocytosis, Hemolytic anemia, Spherocytosis, Splenomegaly OMIM:612653
Liver Failure, Infantile, Transient
Hepatomegaly, Hyperbilirubinemia OMIM:613070
Fish-Eye Disease
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Increased VLDL ... OMIM:136120
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Hypermethioninemia Due To Adenosine Kinase Deficiency
Atrial septal defect, Hypermethioninemia, Hyperbilirubinemia, Pulmonic stenosis OMIM:614300
Cataract-Microcornea Syndrome
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea ORPHA:1377
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Hepatic Veno-Occlusive Disease
Hepatomegaly, Increased total bilirubin ORPHA:890
Ectodermal Dysplasia-Blindness Syndrome
Keratoconjunctivitis sicca, Sclerocornea, Corneal dystrophy, Cataract, Microcornea ORPHA:1806
Immunodeficiency 8
Hyperactivity OMIM:615401
Hypermanganesemia With Dystonia 1
Dystonia, Hepatomegaly, Unconjugated hyperbilirubinemia, Steppage gait, Bradykinesia, Hypermangan... OMIM:613280
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Acanthocytosis, Stomatocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, E... OMIM:109270
Anemia, Sideroblastic, 5
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia OMIM:619523
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Conjugated hyperbilirubinemia, Hyperlipidemia, Splenomegaly OMIM:214900
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Poikilocytosis, Heinz body anemia, Nonspherocytic hemolytic anemia, Elliptocytosis OMIM:141700
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:268200
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Microcornea, Corneal opacity ORPHA:2432
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Sclerocornea, Microcornea, Cataract, Ectopia pupillae OMIM:615877
Lipoyltransferase 1 Deficiency
Dystonia, Increased total bilirubin OMIM:616299
Mietens Syndrome
Sclerocornea, Microcornea, Corneal opacity, Cataract ORPHA:2557
Glutamate-Cysteine Ligase Deficiency
Reticulocytosis, Hepatosplenomegaly, Hemolytic anemia ORPHA:33574
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior, Anxiety OMIM:619031
Rodrigues Blindness
Sclerocornea, Microcornea OMIM:268320
Microphthalmia With Brain And Digit Anomalies
Sclerocornea, Microcornea, Cataract, Iris coloboma ORPHA:139471
Encephalocraniocutaneous Lipomatosis
Limbal dermoid, Ventricular septal defect, Hypoplasia of the iris, Sclerocornea, Subvalvular aort... OMIM:613001
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Iron-Refractory Iron Deficiency Anemia
Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia OMIM:206200
Distal Xq28 Microduplication Syndrome
Neonatal hyperbilirubinemia, Self-biting, Aggressive behavior, Patent foramen ovale, Tip-toe gait... ORPHA:293939
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... OMIM:202700
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Conjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:243300
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Anemia, Sideroblastic, 1
Macrocytic anemia, Hypochromic microcytic anemia, Sideroblastic anemia, Anemia of inadequate prod... OMIM:300751
Harderoporphyria
Splenomegaly, Increased circulating ferritin concentration, Hepatomegaly, Neonatal hyperbilirubin... OMIM:618892
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Increased total bilirubin OMIM:618528
Biliary Atresia, Extrahepatic
Hepatomegaly, Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin OMIM:210500
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia OMIM:609734
3Q29 Microduplication Syndrome
Ventricular septal defect, Sclerocornea, Aniridia, Iris coloboma, Cataract ORPHA:251038
Dermoids Of Cornea
Corneal opacity OMIM:304730
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Hepatomegaly, Hyperactivity, Ataxia, Hypertriglyceridemia OMIM:615924
Hyperlysinemia, Type I
Hyperactivity, Hyperlysinemia, Ectopia lentis OMIM:238700
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Decreased corneal sensation, Corneal stromal edema, Corneal scar... ORPHA:98964
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Hyperammonemia, Hyperthreoninemia, Hepatosplenomegaly, Hypermethioninemia, Dec... ORPHA:247598
Bile Acid Conjugation Defect 1
Hepatomegaly, Conjugated hyperbilirubinemia OMIM:619232
Infantile Sialic Acid Storage Disease
Hepatomegaly, Conjugated hyperbilirubinemia, Cardiomegaly, Splenomegaly OMIM:269920
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Hepatomegaly, Increased L... OMIM:267700
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:610600
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:203400
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Sclerocornea, Ventricular septal defect, Iris coloboma ORPHA:77298
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Pyropoikilocytosis, Hereditary
Hemolytic anemia, Pyropoikilocytosis, Microspherocytosis, Elliptocytosis OMIM:266140
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Anemia, Anisocytosis, Poikilocytosis, Abnormal erythrocyte mor... ORPHA:98870
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly OMIM:185000
Spherocytosis, Type 1
Reticulocytosis, Hemolytic anemia, Spherocytosis, Splenomegaly OMIM:182900
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Elevated hepatic iron concentration, Splenomegaly, Increased circulating ferritin c... OMIM:616860
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Birk-Landau-Perez Syndrome
Hyperkalemia, Dystonia, Ataxia, Difficulty walking OMIM:617595
Idiopathic Congenital Hypothyroidism
Lethargy, Neonatal hyperbilirubinemia ORPHA:95717
Megaloblastic Anemia, Folate-Responsive
Hyperhomocystinemia, Hyperbilirubinemia, Increased circulating ferritin concentration OMIM:601775
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Morm Syndrome
Hyperactivity, Aggressive behavior, Cataract ORPHA:75858
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Oculoauricular Syndrome
Iris cyst, Developmental cataract, Posterior embryotoxon, Microphakia, Sclerocornea, Iris colobom... OMIM:612109
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly OMIM:314050
8Q21.11 Microdeletion Syndrome
Sclerocornea, Corneal opacity, Cataract, Iris hypopigmentation ORPHA:284160
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Aggressive behavior, Hyperactivity, Ataxia, Transient hyperphenylalaninemia OMIM:612716
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypomagnesemia, Hyperactivity, Hypokalemia, Self-biting OMIM:618314
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Normochromic anemia, Splenomegaly, Nonspherocytic hemolytic anemia, Reticulocy... OMIM:235700
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomegal... ORPHA:158057
Linear Skin Defects With Multiple Congenital Anomalies 1
Ventricular septal defect, Histiocytoid cardiomyopathy, Sclerocornea, Chordee, Iris coloboma, Atr... OMIM:309801
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Corneal opacity ORPHA:1980
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia OMIM:141000
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Astigmatism, Opacification of the corneal stroma, Recurrent corn... ORPHA:98960
Glutaric Acidemia Type 3
Impulsivity, Abnormality of circulating enzyme level, Elevated circulating glutaric acid concentr... ORPHA:35706
Hyperkalemic Periodic Paralysis
Hyperkalemia, Hyponatremia, Gait disturbance, Hypokalemia, Elevated circulating creatine kinase c... ORPHA:682
Galactosialidosis
Corneal opacity ORPHA:351
Gorlin-Chaudhry-Moss Syndrome
Sclerocornea, Astigmatism ORPHA:2095
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Aggressive behavior, Impulsivity OMIM:604317
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Abnormal heart morphology, Aplasia/Hypoplasia of the iris, Corneal... ORPHA:1067
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:177735
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:556037
Bile Acid Synthesis Defect, Congenital, 4
Hepatomegaly, Hyperbilirubinemia OMIM:214950
Pseudohypoaldosteronism, Type Iia
Hyperkalemia OMIM:145260
Spinocerebellar Degeneration And Corneal Dystrophy
Opacification of the corneal stroma, Ataxia, Corneal dystrophy OMIM:271310
Winchester Syndrome
Corneal opacity OMIM:277950
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormal circulating thyroglobulin level, Conjugated hyperbilirubinemia ORPHA:95715
Digeorge Syndrome
Ventricular septal defect, Truncus arteriosus, Posterior embryotoxon, Sclerocornea, Tetralogy of ... OMIM:188400
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Hyperbilirubinemia, Splenomegaly OMIM:235555
Elliptocytosis 3
Decreased mean corpuscular volume, Chronic hemolytic anemia, Pyropoikilocytosis, Elliptocytosis OMIM:617948
Bachmann-Bupp Syndrome
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperbilirubinemia OMIM:619075
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Elevated circulating creatine kinase concentration, Corneal opacity, Cataract, Left ventricular h... OMIM:613153
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia OMIM:614736
Stromme Syndrome
Sclerocornea, Peters anomaly, Iris coloboma, Cataract, Microcornea OMIM:243605
Mannosidosis, Beta A, Lysosomal
Tortuosity of conjunctival vessels, Hyperactivity, Aggressive behavior OMIM:248510
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Cardiomyopathy, L... OMIM:617713
Succinic Semialdehyde Dehydrogenase Deficiency
Self-injurious behavior, Aggressive behavior, Hyperactivity, Elevated circulating gamma-aminobuty... OMIM:271980
Hydatidiform Mole, Recurrent, 4
Recurrent spontaneous abortion, Female infertility OMIM:618432
Beta-Thalassemia
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Thrombocytopenia ORPHA:848
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:556030
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Hypoalbuminemia ORPHA:88643
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypogonadism, Hyperactivity, Attention deficit hyperactivity disorder, Neonatal hyperbilirubinemia ORPHA:73272
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Elevated circulating creatine kinase concentration, Female infertility, Premature ovarian insuffi... OMIM:619518
Pseudohypoaldosteronism Type 2
Hyperkalemia ORPHA:757
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypoproteinemia, Hepatomegaly, Increased total bilirubin, Splenomegaly, Increased c... OMIM:603553
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Conjugated hyperbilirubinemia OMIM:605479
Smith-Lemli-Opitz Syndrome
Ventricular septal defect, Elevated 7-dehydrocholesterol, Sclerocornea, Self-injurious behavior, ... ORPHA:818
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Stomatocytosis, Hemolytic anemia, Anisopoikilocytosis, Elevated red cell adenosine deaminase level OMIM:102730
Juvenile Huntington Disease
Dystonia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Ataxia, Irritability, Broad... ORPHA:248111
Al-Gazali Syndrome
Sclerocornea, Corneal opacity OMIM:609465
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Heinz bodies, Splenomegaly, Fava bean-induced hemolytic anemia, Anisocytosis, Poiki... OMIM:300908
Dubin-Johnson Syndrome
Hepatomegaly, Conjugated hyperbilirubinemia ORPHA:234
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia OMIM:240200
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiom... OMIM:600649
Wolcott-Rallison Syndrome
Hyponatremia, Hepatomegaly, Double outlet right ventricle, Hyperbilirubinemia, Hyperammonemia, At... ORPHA:1667
8p23.1 deletion syndrome
Atrioventricular canal defect, Hyperactivity, Atrial septal defect, Abnormal heart morphology DECIPHER:39
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin, Splenomegaly ORPHA:90037
Pseudohypoaldosteronism, Type Iib
Hyperkalemia, Hyperchloremia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperkalemia, Hyperchloremia OMIM:614495
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Ataxia, Hyperbilirubinemia ORPHA:713
Norrie Disease
Aplasia/Hypoplasia of the lens, Hypoplasia of the iris, Ectopia lentis, Sclerocornea, Self-injuri... ORPHA:649
Familial Thyroid Dyshormonogenesis
Lethargy, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:95716
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Cataract ORPHA:85288
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Glycogen Storage Disease Due To Aldolase A Deficiency
Hyperkalemia, Elevated creatine kinase after exercise ORPHA:57
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:301008
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Aggressive behavior, Impulsivity OMIM:309548
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity, Neonatal hyperbilirubinemia OMIM:609727
Morquio Syndrome C
Corneal opacity OMIM:252300
Oocyte Maturation Defect 10
Female infertility, Spontaneous abortion OMIM:619176
Mental Retardation, Autosomal Dominant 43
Hyperactivity, Anxiety, Impulsivity OMIM:616977
Fish-Eye Disease
Hepatomegaly, Decreased HDL cholesterol concentration, Splenomegaly, Corneal opacity ORPHA:79292
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Phace Syndrome
Lens coloboma, Sclerocornea, Abnormal heart morphology, Iris coloboma, Heterochromia iridis, Tetr... ORPHA:42775
Abetalipoproteinemia
Keratoconjunctivitis sicca, Hepatomegaly, Decreased HDL cholesterol concentration, Hypocholestero... ORPHA:14
Genetic Recurrent Myoglobinuria
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia, Difficulty walking ORPHA:99845
Fraxe Intellectual Disability
Hyperactivity, Aggressive behavior, Impulsivity ORPHA:100973
Red Cell Permeability Defect
Elliptocytosis OMIM:179650
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Hepatomegaly, Decreased plasma free carnitine, Elevated circulating long ... OMIM:608836
Diamond-Blackfan Anemia 6
Macrocytic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:612561
Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level, Lethargy ORPHA:427
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Right ventricular hypertrophy, Ventricular septal defect, Conjugated hyperbilirubinemia OMIM:613404
Chronic Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Conjunctival icterus, Hypoalbuminemia, Abnormal conju... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Conjunctival icterus, Hypoalbuminemia, Abnormal conju... ORPHA:529799
Gómez-López-Hernández Syndrome
Ataxia, Corneal opacity ORPHA:1532
Nephronophthisis 2
Hyperkalemia, Situs inversus totalis, Elevated circulating creatinine concentration, Enlarged kidney OMIM:602088
Pyruvate Carboxylase Deficiency
Dystonia, Hepatomegaly, Hypernatremia, Neonatal hyperbilirubinemia, Increased level of L-glutamic... ORPHA:3008
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Glut1 Deficiency Syndrome 2
Reticulocytosis OMIM:612126
Peroxisome Biogenesis Disorder 12A (Zellweger)
Double outlet right ventricle, Atrial septal defect, Hyperbilirubinemia, Elevated circulating lon... OMIM:614886
Bile Acid Synthesis Defect, Congenital, 1
Hypocholesterolemia, Hepatomegaly, Hyperbilirubinemia, Splenomegaly OMIM:607765
Pseudohypoaldosteronism, Type Iic
Hyperkalemia, Hyperchloremia OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperkalemia, Hyperchloremia OMIM:614496
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Limbal Stem Cell Deficiency
Conjunctival hyperemia, Corneal perforation, Corneal scarring, Opacification of the corneal epith... ORPHA:171673
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Splenomegaly, Hyperbilirubinemia, Hypoalbuminemia OMIM:251880
Wolf-Hirschhorn Syndrome
Sclerocornea, Iris coloboma, Ataxia, Atrial septal defect, Abnormal heart valve morphology, Megal... ORPHA:280
Glycogen Storage Disease Vii
Increased total bilirubin, Hyperuricemia OMIM:232800
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnesium concentra... OMIM:241150
Congenital Bile Acid Synthesis Defect Type 2
Hepatomegaly, Conjugated hyperbilirubinemia, Abnormal serum bile acid concentration, Hyperbilirub... ORPHA:79303
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Hyperactivity, Irrit... ORPHA:3077
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Right ventricular hypertrophy, Ventricular septal defect, Conjugated hyperbilirubinemia, Atrial s... OMIM:208085
Van Den Ende-Gupta Syndrome
Sclerocornea OMIM:600920
Corneal Dystrophy, Reis-Bucklers Type
Corneal dystrophy, Opacification of the corneal stroma, Corneal opacity, Corneal erosion OMIM:608470
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperkalemia, Hyponatremia OMIM:264350
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly OMIM:601847
Mucolipidosis Type Iii
Abnormal aortic valve morphology, Corneal opacity, Abnormal heart valve morphology ORPHA:577
Congenital Bile Acid Synthesis Defect Type 3
Hepatosplenomegaly, Hyperbilirubinemia ORPHA:79302
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Athetosis, Ventricular septal defect, Biventricular hypertrophy, Decreased circulating renin leve... OMIM:615474
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity, Abnormal cardiac septum morphology ORPHA:2370
Chromosome 3Q29 Deletion Syndrome
Aggressive behavior, Hyperactivity, Anxiety, Gait ataxia OMIM:609425
Intrahepatic Cholestasis Of Pregnancy
Increased serum bile acid concentration, Depression, Hyperbilirubinemia ORPHA:69665
Generalized Pseudohypoaldosteronism Type 1
Hyperkalemia, Increased circulating renin level, Hyponatremia ORPHA:171876
Asherman Syndrome
Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc... ORPHA:137686
Livedoid Vasculopathy
Pancytopenia, Leukocytosis, Polycythemia, Anemia ORPHA:542643
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Lecithin:Cholesterol Acyltransferase Deficiency
Opacification of the corneal stroma, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:245900
Rh Deficiency Syndrome
Reduced haptoglobin level, Hepatosplenomegaly, Spontaneous abortion, Hyperbilirubinemia ORPHA:71275
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Splenomegaly, Hyperbilirubinemia, Hypocalcemia OMIM:259720
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Hypercholesterolemia, Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, In... OMIM:619662
Fumarase Deficiency
Polycythemia OMIM:606812
Coffin-Siris Syndrome 8
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:618362
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly OMIM:211600
Premature Ovarian Failure 6
Secondary amenorrhea, Streak ovary, Female infertility, Primary amenorrhea, Premature ovarian ins... OMIM:612310
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T... OMIM:255120
Landau-Kleffner Syndrome
Steppage gait, Aggressive behavior, Hyperactivity, Emotional lability, Impulsivity, Anxiety, Atte... ORPHA:98818
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly, Hyperalaninemia, Hyperprolinemia, Lethargy OMIM:619064
Pyruvate Kinase Deficiency Of Red Cells
Unconjugated hyperbilirubinemia, Splenomegaly OMIM:266200
Microphthalmia With Linear Skin Defects Syndrome
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Mitral valve prolapse, Posterior embryotoxon... ORPHA:2556
Osteopetrosis, Autosomal Recessive 4
Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocytopenia OMIM:611490
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Hereditary Spherocytosis
Hepatomegaly, Restrictive cardiomyopathy, Hyperbilirubinemia, Splenomegaly, Ataxia ORPHA:822
Phosphoglycerate Kinase 1 Deficiency
Reticulocytosis, Hemolytic anemia OMIM:300653
Hereditary Elliptocytosis
Congenital hemolytic anemia, Stomatocytosis, Splenomegaly, Poikilocytosis, Reticulocytosis, Abnor... ORPHA:288
Hepatoportal Sclerosis
Splenomegaly, Hyperbilirubinemia, Hypoalbuminemia ORPHA:64743
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Happy demeanor, Inappropriate laughter, Hyperactivity, Ataxia, Iris hypopigmentation, Broad-based... ORPHA:411515
Lennox-Gastaut Syndrome
Hyperactivity, Aggressive behavior, Falls, Personality disorder ORPHA:2382
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Aggressive behavior, Ataxia OMIM:300983
Mucolipidosis Iv
Dystonia, Opacification of the corneal stroma, Corneal opacity OMIM:252650
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Myopic astigmatism, Aggressive behavior, Attention deficit hyperactivity disorder, Corneal opacit... OMIM:152950
Liddle Syndrome 3
Hypokalemia OMIM:618126
Xq25 Microduplication Syndrome
Hyperactivity, Anxiety ORPHA:521258
Chromosome Xq25 Duplication Syndrome
Hyperactivity, Anxiety OMIM:300979
Hyperphosphatasia With Mental Retardation Syndrome 6
Elevated circulating creatine kinase concentration, Hyperactivity, Developmental cataract, Aggres... OMIM:616809
Hemochromatosis, Type 1
Increased serum iron, Testicular atrophy, Hepatomegaly, Amenorrhea, Azoospermia, Hypogonadotropic... OMIM:235200
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Thinning of Descemet membrane, Iris atrophy, Corneal op... OMIM:122000
Meckel Syndrome
Sclerocornea, Situs inversus totalis, Aplasia/Hypoplasia of the iris, Cataract, Microcornea ORPHA:564
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia OMIM:268150
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypomagnesemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia OMIM:601198
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Corneal opacity, Cataract, Posterior embryotoxon, Iris coloboma ORPHA:1473
Isolated Thyroid-Stimulating Hormone Deficiency
Neonatal hyperbilirubinemia, Abnormal circulating thyroglobulin level, Hypercholesterolemia, Atte... ORPHA:90674
Lcat Deficiency
Decreased circulating apolipoprotein AI concentration, Decreased HDL cholesterol concentration, H... ORPHA:650
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity OMIM:618090
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma, Hypogonadotropic hypogonadism, Secondary amenorrhea, Decreas... ORPHA:1643
Early-Onset Schizophrenia
Unhappy demeanor, Low self esteem, Suicidal ideation, Decreased female libido, Irritability, Anhe... ORPHA:96369
Neuroleptic Malignant Syndrome
Hyperkalemia, Hyponatremia, Hypernatremia, Elevated circulating creatine kinase concentration, Hy... ORPHA:94093
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia OMIM:619484
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Corneal opacity, Abnormal corneal endothelium morphology, Band keratopathy ORPHA:293621
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Cholestasis, Progressive Familial Intrahepatic, 5
Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Hyperammonemia OMIM:617049
Citrullinemia Type Ii
Hypoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Hyperlipidemia, Aggressiv... ORPHA:247585
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Neonatal hyperbilirubinemia, Hyperalaninemia, Hyperuricemia, Irritability ORPHA:348
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Poems Syndrome
Polycythemia, Thrombocytosis ORPHA:2905
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Developmental cataract, Corneal opacity OMIM:618815
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior OMIM:615541
Stickler Syndrome Type 2
Corneal opacity, Cataract ORPHA:90654
Liddle Syndrome 2
Hypokalemia, Decreased circulating renin level OMIM:618114
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Broad-based gait OMIM:619470
Autoimmune Hepatitis
Anxiety, Depression, Increased total bilirubin, Splenomegaly ORPHA:2137
Amme Complex
Elliptocytosis OMIM:300194
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Imerslund-Gräsbeck Syndrome
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... ORPHA:35858
Transketolase Deficiency
Secondary amenorrhea, Ventricular septal defect, Hepatomegaly, Elevated circulating ribitol conce... ORPHA:488618
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Hepatomegaly, Abnormality of iron homeostasis, Infertility, Amenorrhea, Hypog... ORPHA:465508
Intellectual Developmental Disorder, Autosomal Recessive 38
Blue irides, Aggressive behavior, Self-mutilation, Hyperactivity, Unsteady gait OMIM:615516
Mixed-Type Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90036
Myopathy With Extrapyramidal Signs
Dystonia, Ventricular septal defect, Hepatomegaly, Elevated circulating creatine kinase concentra... OMIM:615673
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Aggressive behavior, Hyperactivity, Anxiety, Depression OMIM:619467
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Cardiomyocyte mitochondrial proliferation, Hyperphosphatemia, Elevated creatine kin... ORPHA:423
Sialidosis Type 2
Ataxia, Corneal opacity, Hepatomegaly, Splenomegaly ORPHA:87876
Hereditary Cryohydrocytosis With Reduced Stomatin
Ataxia, Zonular cataract, Conjugated hyperbilirubinemia, Hepatosplenomegaly, Cataract ORPHA:168577
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased red cell hemolysis by shear stress, Splenomegaly, Exercise-induced hemolysis, Increased... OMIM:194380
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:54057
Congenital Hereditary Endothelial Dystrophy Type Ii
Corneal stromal edema, Corneal opacity, Increased corneal thickness, Abnormal Descemet membrane m... ORPHA:293603
Mitochondrial Complex I Deficiency, Nuclear Type 36
Hyperprolinemia, Perimembranous ventricular septal defect, Cardiomegaly, Hyperalaninemia OMIM:619170
Hurler-Scheie Syndrome
Hepatomegaly, Cardiomyopathy, Splenomegaly, Abnormal heart valve morphology, Corneal opacity ORPHA:93476
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Reticulocytosis, Hepatosplenomegaly, Hemolytic anemia, Decreased mean corpuscular volume OMIM:611590
Yunis-Varon Syndrome
Ventricular septal defect, Sclerocornea, Cardiomegaly, Cardiomyopathy, Atrial septal defect, Tetr... ORPHA:3472
Hypothyroidism Due To Tsh Receptor Mutations
Lethargy, Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:90673
Sitosterolemia 1