Gene Summary

Name:
RAB3 GTPase activating protein subunit 2
Synonyms:
1110059F07Rik

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
narrow eye opening Rab3gap2tm1b(KOMP)Wtsi HOM Early adult 9.11×10-06
abnormal optic disk morphology Rab3gap2tm1b(KOMP)Wtsi HOM   Early adult 6.38×10-05
hyperactivity Rab3gap2tm1b(KOMP)Wtsi HOM   Early adult 5.59×10-06
decreased hematocrit Rab3gap2tm1b(KOMP)Wtsi HOM   Early adult 5.07×10-06
increased circulating alkaline phosphatase level Rab3gap2tm1b(KOMP)Wtsi HOM Early adult 1.04×10-06
abnormal snout morphology Rab3gap2tm1b(KOMP)Wtsi HOM Early adult 1.98×10-07
prolonged RR interval Rab3gap2tm1b(KOMP)Wtsi HOM Early adult 1.04×10-05
thrombocytopenia Rab3gap2tm1b(KOMP)Wtsi HOM   Early adult 2.60×10-05
decreased heart rate Rab3gap2tm1b(KOMP)Wtsi HOM Early adult 1.10×10-05
decreased circulating HDL cholesterol level Rab3gap2tm1b(KOMP)Wtsi HOM Early adult 9.23×10-05
increased circulating bilirubin level Rab3gap2tm1b(KOMP)Wtsi HOM Early adult 2.43×10-06

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 0.0% (0 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Brain  Section images heterozygote Ambiguous
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote Not available
Pancreas  Section images heterozygote 100% (2 of 2)
Pituitary gland  Section images heterozygote Ambiguous
Skin  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thyroid gland  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote Ambiguous
Vascular system  Section images heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
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 0.0% (0 of 2)
Mammary gland 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)
Peripheral nervous system 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
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thalamus N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 1)
Brain N/A homozygote 0.0% (0 of 1)
Dorsal root ganglion N/A heterozygote 0.0% (0 of 1)
Dorsal root ganglion N/A homozygote 0.0% (0 of 1)
Ear N/A heterozygote 0.0% (0 of 1)
Ear N/A homozygote 0.0% (0 of 1)
Embryo N/A heterozygote 0.0% (0 of 1)
Embryo N/A homozygote 0.0% (0 of 1)
Eye N/A heterozygote 0.0% (0 of 1)
Eye N/A homozygote 0.0% (0 of 1)
Footplate N/A heterozygote 0.0% (0 of 1)
Footplate N/A homozygote 0.0% (0 of 1)
Forebrain N/A heterozygote 0.0% (0 of 1)
Forebrain N/A homozygote 0.0% (0 of 1)
Forelimb N/A heterozygote 0.0% (0 of 1)
Forelimb N/A homozygote 0.0% (0 of 1)
Fronto-nasal process N/A heterozygote 0.0% (0 of 1)
Fronto-nasal process N/A homozygote 0.0% (0 of 1)
Handplate N/A heterozygote 0.0% (0 of 1)
Handplate N/A homozygote 0.0% (0 of 1)
Head N/A heterozygote 0.0% (0 of 1)
Head N/A homozygote 0.0% (0 of 1)
Heart N/A heterozygote 0.0% (0 of 1)
Heart N/A homozygote 0.0% (0 of 1)
Hindbrain N/A heterozygote 0.0% (0 of 1)
Hindbrain N/A homozygote 0.0% (0 of 1)
Hindlimb N/A heterozygote 0.0% (0 of 1)
Hindlimb N/A homozygote 0.0% (0 of 1)
Liver N/A heterozygote 0.0% (0 of 1)
Liver N/A homozygote 0.0% (0 of 1)
Lung N/A heterozygote 0.0% (0 of 1)
Lung N/A homozygote 0.0% (0 of 1)
Mandibular process N/A heterozygote 0.0% (0 of 1)
Mandibular process N/A homozygote 0.0% (0 of 1)
Maxillary process N/A heterozygote 0.0% (0 of 1)
Maxillary process N/A homozygote 0.0% (0 of 1)
Midbrain N/A heterozygote 0.0% (0 of 1)
Midbrain N/A homozygote 0.0% (0 of 1)
Nose N/A heterozygote 0.0% (0 of 1)
Nose N/A homozygote 0.0% (0 of 1)
Oral cavity N/A heterozygote 0.0% (0 of 1)
Oral cavity N/A homozygote 0.0% (0 of 1)
Skin N/A heterozygote 0.0% (0 of 1)
Skin N/A homozygote 0.0% (0 of 1)
Spinal cord N/A heterozygote 0.0% (0 of 1)
Spinal cord N/A homozygote 0.0% (0 of 1)
Tail somite N/A heterozygote 0.0% (0 of 1)
Tail somite N/A homozygote 0.0% (0 of 1)
Tail N/A heterozygote 0.0% (0 of 1)
Tail N/A homozygote 0.0% (0 of 1)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thalamus 0.0%
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
urinary bladder 0.0%
uterus 0.33% (2 of 598)
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 1.17% (6 of 511)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
eye 0.2% (1 of 511)
footplate 0.2% (1 of 511)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
heart 0.2% (1 of 511)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
liver 0.2% (1 of 506)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
midbrain 0.2% (1 of 511)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 506)
skin 0.2% (1 of 511)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)

Associated Images

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

Eye Morphology

Images Slit Lamp

2 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Forepaw

10 Images

Adult LacZ

LacZ Images Section

18 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Combined SHIRPA and Dysmorphology

Images

5 Images

Auditory Brain Stem Response

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

7 Images

Electroretinography 2

Rod and cone PDF

2 Images

Human diseases caused by Rab3gap2 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 Rab3gap2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Micro Syndrome
Optic atrophy, Wide nasal bridge, Abnormality of retinal pigmentation, Short nose, Retinal coloboma ORPHA:2510
Warburg Micro Syndrome 2
Optic atrophy, Short nose OMIM:614225
Martsolf Syndrome 1
Downslanted palpebral fissures, Epicanthus, Cardiac arrest, Congestive heart failure, Cardiomyopathy OMIM:212720
Cataract-Intellectual Disability-Hypogonadism Syndrome
ORPHA:1387
Autosomal Recessive Spastic Paraplegia Type 69
ORPHA:401830

The table below shows human diseases predicted to be associated to Rab3gap2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Malaria
Anemia, Retinopathy, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration, T... ORPHA:673
Glutathione Peroxidase Deficiency
Compensated hemolytic anemia, Neonatal hyperbilirubinemia, Heinz bodies OMIM:614164
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Increased heart rate variability, Syncope, Bradycardia OMIM:614896
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Anemia, Congenital hemolytic anemia, Increased serum iron, Unconjugated hyperbilirubinemia, Eleva... ORPHA:766
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate production, Sple... OMIM:237800
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia, Fava bean-induced hemolytic anemia OMIM:618660
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Permanent atrial fibrillation, Palpitations, Bradycardia, Fi... OMIM:617280
Intellectual Developmental Disorder With Cardiac Arrhythmia
Retinal degeneration, Bradycardia, Sick sinus syndrome, Arrhythmia OMIM:617173
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia, Splenomegaly, Reticulocytosis OMIM:179700
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder, Bradycardia, Sick sinus syndrome OMIM:617182
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Atrial Standstill
Right bundle branch block, Mobitz I atrioventricular block, Ischemic stroke, Reduced left ventric... ORPHA:1344
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Ventricular tachycardia, Syncope, Bradycardia OMIM:611938
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced haptoglobin level, Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated re... OMIM:613673
Crigler-Najjar Syndrome Type 2
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79235
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Hyper... OMIM:616689
Rotor Syndrome
Hyperbilirubinemia, Conjunctival icterus, Conjugated hyperbilirubinemia ORPHA:3111
Aminoacylase 1 Deficiency
Hyperactivity, Bradycardia, Wide nasal bridge OMIM:609924
Cholestasis, Progressive Familial Intrahepatic, 12
Hyperbilirubinemia, Increased serum bile acid concentration, Splenomegaly, Conjugated hyperbiliru... OMIM:620010
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Ventricular fib... OMIM:616249
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Increased serum bile acid concentration, Hypercholesterolemia, Splenom... OMIM:619868
Dehydrated Hereditary Stomatocytosis
Increased total bilirubin, Increased mean corpuscular hemoglobin concentration, Congenital hemoly... ORPHA:3202
Megaloblastic Anemia, Folate-Responsive
Hyperbilirubinemia, Hyperhomocystinemia, Episodic hemolytic anemia, Schistocytosis, Increased cir... OMIM:601775
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Hypertro... OMIM:601419
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Optic atrophy, Epicanthus, Ptosis, Hypoplasia of the fovea, Upslanted palpebral fissure OMIM:620086
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia, Microangiopathic hemolytic anemia, Thrombocytopenia, Hyperkalemia OMIM:141000
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Bradycardia, Epicanthus, Dysphagia OMIM:616276
Lipoyltransferase 1 Deficiency
Increased total bilirubin, Pulmonary arterial hypertension, Hyperprolinemia, Bradycardia, Hypergl... OMIM:616299
Hyperlysinemia, Type I
Hyperlysinemia, Anemia, Hyperactivity OMIM:238700
Romano-Ward Syndrome
Sudden cardiac death, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia, Hypokalemia, S... ORPHA:101016
Hypercholanemia, Familial, 2
Unconjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:619256
Chronic Atrial And Intestinal Dysrhythmia
Pulmonic stenosis, Ventricular escape rhythm, Mitral regurgitation, Atrial flutter, Bradycardia, ... OMIM:616201
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Cholestasis, Progressive Familial Intrahepatic, 11
Increased serum bile acid concentration, Abnormal circulating bilirubin concentration OMIM:619874
Rh Deficiency Syndrome
Stomatocytosis, Reduced haptoglobin level, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis,... ORPHA:71275
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Hypersplenism, Ptosis, Hypocholesterolemia, Thrombocytopenia, Splenomegaly OMIM:610539
Beemer Lethal Malformation Syndrome
Thrombocytopenia, Wide nasal bridge OMIM:209970
Leber Hereditary Optic Neuropathy, Modifier Of
Leber optic atrophy, Optic atrophy OMIM:308905
Long Qt Syndrome 16
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval OMIM:618782
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Elevated circulating creatine kinase concentration, Hypertrophic ca... OMIM:618775
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL choles... OMIM:620058
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Stomatocytosis, Hemolytic anemia, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis OMIM:301083
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Hypertriglyceridemia, Hyperbil... ORPHA:158057
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anemia, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume, Anisocytosi... OMIM:616860
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Increased total iron binding capacity, Hyperbilirubinemia, Poikilocytosis, Abnormal eryth... ORPHA:98870
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hyperalaninemia, Bradycardia, Decreased plasma free carnitine, Congestive heart failure OMIM:619048
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Abnormal macular morphology, Increased LDL cholesterol concentrat... OMIM:607616
Familial Short Qt Syndrome
Sudden cardiac death, Ventricular arrhythmia, Syncope, Ventricular fibrillation, Palpitations, At... ORPHA:51083
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin, Congestive heart failure, Autoimmune hemolytic anemia, Tachycardia, Sp... ORPHA:90037
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... OMIM:616117
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Thrombocytopenia 2
Thrombocytopenia, Leukocytosis OMIM:188000
Sickle Cell Anemia
Hemolytic anemia, Unconjugated hyperbilirubinemia, Reticulocytosis, Persistence of hemoglobin F, ... ORPHA:232
Bile Acid Synthesis Defect, Congenital, 5
Increased total iron binding capacity, Hyperbilirubinemia, Increased serum bile acid concentratio... OMIM:616278
Progressive Familial Heart Block, Type Ib
Right bundle branch block, Syncope, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Relapsing Fever
Increased total bilirubin, Leukopenia, Anemia, Hypotension, Neutrophilia, Epistaxis, Elevated cir... ORPHA:91547
Cardiomyopathy, Dilated, 1D
Sudden cardiac death, Reduced left ventricular ejection fraction, Congestive heart failure, Dilat... OMIM:601494
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia, Hypertension OMIM:166990
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Crigler-Najjar Syndrome Type 1
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79234
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Spherocytosis, Type 2
Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Acanthocytosis, Spherocytosis OMIM:616649
Hemophagocytic Lymphohistiocytosis, Familial, 4
Conjunctivitis, Anemia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hemop... OMIM:603552
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Tako-Tsubo Cardiomyopathy
Hypotension, Ventricular arrhythmia, Cardiogenic shock, Angina pectoris, Palpitations, Prolonged ... ORPHA:66529
Combined Oxidative Phosphorylation Deficiency 10
Hyperalaninemia, Optic atrophy, Hypertrophic cardiomyopathy, Hyperammonemia, Bradycardia OMIM:614702
Atrial Standstill 2
Hyperpepsinogenemia I, Atrial standstill, Atrial cardiomyopathy, Palpitations, Atrial arrhythmia,... OMIM:615745
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyseryth... OMIM:224120
Spherocytosis, Type 4
Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Spherocytosis OMIM:612653
Paroxysmal Extreme Pain Disorder
Bradycardia, Tachycardia OMIM:167400
Atrial Septal Defect 6
Bradycardia, Atrial fibrillation OMIM:613087
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Syncope, Congestive heart failure, Asymmetric septal hypertrophy,... OMIM:600858
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Megaloblastic anemia, Optic atrophy, Cardiac arrest, Retinal dystr... ORPHA:49827
Infantile Sialic Acid Storage Disease
Epicanthus, Congestive heart failure, Ptosis, Vacuolated lymphocytes, Splenomegaly, Conjugated hy... OMIM:269920
Cln3 Disease
Pigmentary retinopathy, Optic atrophy, T-wave inversion, Bull's eye maculopathy, Dysphagia, Brady... ORPHA:228346
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Long Qt Syndrome 9
Cardiac arrest, Ventricular arrhythmia, Syncope, Prolonged QT interval, Abnormal U wave, Sinus br... OMIM:611818
Preeclampsia/Eclampsia 1
Thrombocytopenia, Hypertension OMIM:189800
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal platelet function, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Polycythemia Vera
Increased red blood cell mass, Cerebral hemorrhage, Cerebral ischemia, Increased hematocrit, Thro... OMIM:263300
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Hyperbilirubinemia, Reticulocytosis, Nonspherocytic hemolytic anemia, Splenome... OMIM:235700
Refractory Anemia
Abnormal cardiac ventricular function, Neutropenia, Normocytic anemia, Erythroid hypoplasia, Macr... ORPHA:98826
Tetanus
Abnormal autonomic nervous system physiology, Hypertension, Elevated circulating creatine kinase ... ORPHA:3299
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Cardiac arrest, Elevated circulating creatine kinase concentration, Premature ventri... OMIM:212138
Glycogen Storage Disease Vii
Increased total bilirubin, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hyperuricemi... OMIM:232800
Hereditary Elliptocytosis
Stomatocytosis, Congenital hemolytic anemia, Hemolytic anemia, Elliptocytosis, Hyperbilirubinemia... ORPHA:288
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hemolytic anemia, Retinal dystrophy, Hyperbilirubinemia, Reticulocytosis, Decreased hemoglobin co... ORPHA:713
Atrial Fibrillation, Familial, 10
Permanent atrial fibrillation, Tricuspid regurgitation, Atrial flutter, Bradycardia, Paroxysmal a... OMIM:614022
Spherocytosis, Type 1
Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Spherocytosis OMIM:182900
Thrombocytopenia 7
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:619130
Retinitis Pigmentosa 36
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:610599
Bleeding Disorder, Platelet-Type, 19
Epistaxis, Anemia, Thrombocytopenia, Macrothrombocytopenia OMIM:616176
Glutamine Deficiency, Congenital
Hypoglutaminemia, Wide nasal bridge, Short nose, Hyperammonemia, Bradycardia OMIM:610015
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Decreased serum creatinine, Reticulocytosis, Myocardial infarc... ORPHA:54057
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Hepatosplenomegaly, ... ORPHA:247598
Short Qt Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Shortened QT interval, Bradycardia, Atri... OMIM:609621
Harderoporphyria
Hemolytic anemia, Reticulocytosis, Increased circulating ferritin concentration, Neonatal hyperbi... OMIM:618892
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Congestive heart failure, Hypertrophic cardiomyopathy, Myocarditis, Bradyca... OMIM:617222
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia, Bradycardia ORPHA:95717
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis, Splenomegaly OMIM:185000
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Long Qt Syndrome 5
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular fibrillation, Prolonged QTc interv... OMIM:613695
Pyruvate Kinase Deficiency Of Red Cells
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosi... OMIM:266200
Intellectual Developmental Disorder, X-Linked 101
Unilateral ptosis, Hyperactivity, Optic atrophy OMIM:300928
Isolated Polycystic Liver Disease
Increased total bilirubin, Gastrointestinal hemorrhage ORPHA:2924
Sick Sinus Syndrome 4
Sinoatrial block, Syncope, Abnormal PR interval, Abnormal QRS complex, Chronotropic incompetence,... OMIM:619464
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Coenzyme Q10 Deficiency, Primary, 5
Hyperalaninemia, Bradycardia OMIM:614654
Trimethylaminuria
Anemia, Hypertension, Tachycardia, Neutropenia, Splenomegaly OMIM:602079
Sick Sinus Syndrome 2
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Aortic regurgitation, Atrial f... OMIM:163800
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Third degree atrioventricular block, Ventricular arrhythmia, Dilated cardio... OMIM:115200
Leber Hereditary Optic Neuropathy
Optic atrophy, Retinal vascular tortuosity, Retinal telangiectasia, Arrhythmia, Ventricular preex... ORPHA:104
Acquired Idiopathic Sideroblastic Anemia
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt... ORPHA:75564
Mixed-Type Autoimmune Hemolytic Anemia
Increased total bilirubin, Autoimmune hemolytic anemia, Tachycardia ORPHA:90036
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Thrombocytopenia, Abnormal hemoglobin ORPHA:3319
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cone/cone-rod dystrophy, Optic atrophy, Retinal degeneration, Sideroblastic anemia, Thiamine-resp... OMIM:249270
Leber Congenital Amaurosis 13
Retinal dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ret... OMIM:612712
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Heinz bodies, Unconjugated hyperbilirubinemia, Fava bean-induced hemolytic anemia, Reticulocytosi... OMIM:300908
Brugada Syndrome
Supraventricular tachycardia, Right bundle branch block, Trifascicular block, Cardiac arrest, Ven... ORPHA:130
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Complete heart block with narrow QRS complexes, Syncope, Atrioventricular b... OMIM:140400
Citrullinemia, Type Ii, Neonatal-Onset
Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Decr... OMIM:605814
Atrial Fibrillation, Familial, 7
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged PR interval... OMIM:612240
Intracranial Hypertension, Idiopathic
Papilledema, Hypertension OMIM:243200
Elliptocytosis 2
Elliptocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis OMIM:130600
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Increase... OMIM:267700
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Arrhythmia, Sensory axonal neuropathy, Ptosis, Dysphagia, Bradycardia, Cardiomyopathy OMIM:609286
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Supraventricular arrhythmia, Peripheral axonal neuropathy, Optic atrophy, Cardiomyopathy ORPHA:320360
Long Qt Syndrome 8
Sudden cardiac death, Syncope, Ventricular fibrillation, Aborted sudden cardiac death, Prolonged ... OMIM:618447
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Ventricular ar... OMIM:610193
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Thrombocytopenia, Sideroblastic anemia, Hypertension, Arrhythmia OMIM:617021
Amegakaryocytic Thrombocytopenia, Congenital
Amegakaryocytic thrombocytopenia, Thrombocytopenia, Pancytopenia OMIM:604498
Sick Sinus Syndrome 1
Ventricular escape rhythm, Prolonged QT interval, Atrioventricular block, Absent P wave, Sick sin... OMIM:608567
Glycogen Storage Disease Xii
Reduced haptoglobin level, Anemia, Epicanthus, Normocytic anemia, Hyperbilirubinemia, Elevated ci... OMIM:611881
Hepatoportal Sclerosis
Leukopenia, Anemia, Hypersplenism, Hyperbilirubinemia, Gastrointestinal hemorrhage, Portal hypert... ORPHA:64743
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Bradycardia, Atrial fibrillation OMIM:614302
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Acute myeloid leukemia, Retinal hemorrhage, Abnormal ... ORPHA:86839
Bachmann-Bupp Syndrome
Downslanted palpebral fissures, Blepharophimosis, Hyperbilirubinemia, Ptosis, Attention deficit h... OMIM:619075
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Cardiac Arrhythmia, Ankyrin-B-Related
Sudden cardiac death, Syncope, Prolonged QT interval, Atrial fibrillation, Sinus bradycardia OMIM:600919
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Bradycardia, Dilated cardiomyopathy OMIM:618815
Neuroleptic Malignant Syndrome
Hypotension, Abnormal autonomic nervous system physiology, Elevated circulating creatine kinase c... ORPHA:94093
Acitretin/Etretinate Embryopathy
Abnormal retinal morphology, Third degree atrioventricular block, Hypoplasia of the thymus, Epica... ORPHA:40366
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Sudden cardiac death, Effort-induced polymorphic ventricular tachycardia, Syncope, Atrial standst... OMIM:604772
Vitamin B12-Unresponsive Methylmalonic Acidemia
Leukopenia, Anemia, Optic atrophy, Hyperammonemia, Macrocytic anemia, Thrombocytopenia, Cardiomyo... ORPHA:27
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Epi... OMIM:155100
Fetal Parvovirus Syndrome
Hypertrophic cardiomyopathy, Anemia, Thrombocytopenia ORPHA:295
Sitosterolemia 1
Stomatocytosis, Hypercholesterolemia, Anemia, Reduced haptoglobin level, Reticulocytosis, Impaire... OMIM:210250
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Anemia, Spontaneous hemolytic crises, Restri... ORPHA:822
Platelet Signal Processing Defect
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Epi... OMIM:173590
Transaldolase Deficiency
Anemia, Telangiectasia, Hepatosplenomegaly, Increased serum bile acid concentration, Abnormal cir... ORPHA:101028
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Hepatosplenomegaly, Increased circulating ferritin concentration, Hemophagocytosis, Throm... OMIM:613101
Incessant Infant Ventricular Tachycardia
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac arrest, Wolff-Parkinson-White ... ORPHA:45453
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Retinal degeneration, Ventricular escape rhythm, Arrhythmia, Prolonged PR interval, Bradycardia, ... ORPHA:542306
Systemic Lupus Erythematosus 17
Leukopenia, Raynaud phenomenon, Lymphopenia, Autoimmune thrombocytopenia, Hypertensive crisis, Op... OMIM:301080
Familial Thyroid Dyshormonogenesis
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Bradycardia ORPHA:95716
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Thrombocytopenia, Leukemia OMIM:133180
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia OMIM:214900
Eosinophilia, Familial
Anemia, Thrombocytopenia, Leukocytosis, Eosinophilia OMIM:131400
Timothy Syndrome
Hypocalcemia, Bradycardia, Prolonged QT interval OMIM:601005
Hypobetalipoproteinemia, Familial, 1
Decreased LDL cholesterol concentration, Rod-cone dystrophy, Retinal degeneration, Steatorrhea, D... OMIM:615558
Bleeding Disorder, Platelet-Type, 16
Anemia, Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocyto... OMIM:187800
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anemia, Optic atrophy, Hyperammonemia, Thrombocytopenia, Neutropenia, Splenomegaly, Cardiomyopathy ORPHA:79312
Thrombocytopenia With Beta-Thalassemia, X-Linked
Splenomegaly, Hemolytic anemia, Reticulocytosis, Epistaxis, Increased RBC distribution width, Thr... OMIM:314050
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypotension, Reduced left ventricular ejection fraction, Hyperbilirubinemia, Heart block, Capilla... ORPHA:542323
Chronic Bilirubin Encephalopathy
Abnormal conjunctiva morphology, Hemolytic anemia, Abnormal auditory evoked potentials, Conjuncti... ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal conjunctiva morphology, Hemolytic anemia, Abnormal auditory evoked potentials, Conjuncti... ORPHA:529799
Wild Type Attr Amyloidosis
Orthostatic hypotension due to autonomic dysfunction, Abnormal EKG, Abnormal autonomic nervous sy... ORPHA:330001
Drug-Induced Lupus Erythematosus
Anemia, Elevated circulating creatine kinase concentration, Pericarditis, Increased blood urea ni... ORPHA:231111
Necrotizing Enterocolitis
Hypotension, Shock, Leukocytosis, Hyponatremia, Thrombocytopenia, Neutropenia, Bradycardia ORPHA:391673
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Anemia, Pancytopenia, Diffuse alveolar hemorrhage, Increased c... OMIM:616050
Cardiomyopathy, Dilated, 1Ii
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Elevated circulating cre... OMIM:615184
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Paroxysmal ventricular tachycardia,... OMIM:614021
Rh-Null, Regulator Type
Stomatocytosis, Hemolytic anemia, Unconjugated hyperbilirubinemia OMIM:268150
Wolfram Syndrome, Mitochondrial Form
Megaloblastic anemia, Optic atrophy, Abnormal autonomic nervous system physiology, Sideroblastic ... OMIM:598500
Cardiomyopathy, Dilated, 2F
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... OMIM:619747
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Thrombocytopenia, Epistaxis, Increased mean platelet volume OMIM:615193
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Anemia, Pancytopenia, Decreased nerve conduction velocity, Thrombo... OMIM:159550
Illum Syndrome
Bradycardia, Calcinosis OMIM:208155
Gray Platelet Syndrome
Epistaxis, Thrombocytopenia, Splenomegaly, Abnormality of thrombocytes ORPHA:721
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Raynaud phenomenon, Hypertension, Abnormal platelet aggregation ORPHA:401945
Hepatic Veno-Occlusive Disease
Increased total bilirubin ORPHA:890
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Long eyebrows, Bradycardia, Atrioventricular block OMIM:614407
Abetalipoproteinemia
Anemia, Decreased LDL cholesterol concentration, Rod-cone dystrophy, Hyperbilirubinemia, Keratoco... ORPHA:14
Snakebite Envenomation
Hypotension, Neuromuscular dysphagia, Cerebral ischemia, Cardiogenic shock, Pseudobulbar paralysi... ORPHA:449285
Amed Syndrome, Digenic
Acute myeloid leukemia, Leukopenia, Anemia, Attention deficit hyperactivity disorder, Thrombocyto... OMIM:619151
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Abnormal autonomic nervous system physiology, Bradycardia, Optic atrophy OMIM:614498
Pontocerebellar Hypoplasia Type 10
Optic atrophy, Wide nasal bridge, Long eyelashes, Long palpebral fissure, Highly arched eyebrow ORPHA:411493
Preeclampsia
Elevated systolic blood pressure, Hypertension, Elevated circulating creatinine concentration, Th... ORPHA:275555
Osteopetrosis, Autosomal Recessive 4
Anemia, Optic atrophy, Reticulocytosis, Thrombocytopenia, Optic disc pallor, Splenomegaly, Facial... OMIM:611490
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Anemia, Optic atrophy, Hyperammonemia, Thrombocytopenia, Neutropenia ORPHA:289916
Cardiomyopathy, Dilated, 1E
Supraventricular tachycardia, Right bundle branch block, Reduced left ventricular ejection fracti... OMIM:601154
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased total bilirubin, Leukopenia, Anemia, Pancytopenia, Hepatosplenomegaly, Increased circul... OMIM:603553
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Gastrointestinal hemorrhage, Giant platelets OMIM:137560
Attrv122I Amyloidosis
Anemia, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Abnormal EKG, Abn... ORPHA:85451
Retinitis Pigmentosa 71
Rod-cone dystrophy, Optic disc drusen, Attenuation of retinal blood vessels, Perifoveal ring of h... OMIM:616394
Erythrocytosis, Familial, 1
Increased red blood cell mass, Cerebral hemorrhage, Increased hematocrit, Hypertension, Myocardia... OMIM:133100
Moyamoya Disease 6 With Or Without Achalasia
Ischemic stroke, Raynaud phenomenon, Hypertension, Dysphagia, Thrombocytopenia OMIM:615750
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Congenital bilateral ptosis, Ptosis, Neonatal hyperbilirubinemia, Attention defici... ORPHA:73272
Neonatal Lupus Erythematosus
Anemia, Neutropenia, Hemolytic anemia, Dilated cardiomyopathy, Pancytopenia, Heart block, Abnorma... ORPHA:398124
Stuve-Wiedemann Syndrome 2
Pulmonary arterial hypertension, Thrombocytopenia, Congestive heart failure, Dysphagia OMIM:619751
Osteopetrosis, Autosomal Recessive 5
Anemia, Optic atrophy, Hyperbilirubinemia, Hypocalcemia, Pancytopenia, Hepatosplenomegaly, Hypoch... OMIM:259720
Anemia, Sideroblastic, 5
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia OMIM:619523
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Syncope, Elevated circulating creatine kinase concentration, Palpitations, Second degree atrioven... OMIM:616812
Wolfram Syndrome 1
Megaloblastic anemia, Optic atrophy, Sideroblastic anemia, Ptosis, Dysphagia, Thrombocytopenia, P... OMIM:222300
Aapoaiv Amyloidosis
Left ventricular outflow tract obstruction, Abnormal cardiac ventricular function, Hypertension, ... ORPHA:439232
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia ORPHA:1980
Birdshot Chorioretinopathy
Retinal thinning, Abnormal choroid morphology, Vitritis, Vitreous floaters, Choroidal neovascular... ORPHA:179
Xq25 Microduplication Syndrome
Sparse eyebrow, Hyperactivity, Epicanthus, Abnormality of the palpebral fissures, Highly arched e... ORPHA:521258
Glycine Encephalopathy
Restlessness, Impulsivity, Hyperactivity, Hyperglycinemia OMIM:605899
Lipodystrophy, Congenital Generalized, Type 4
Elevated circulating creatine kinase concentration, Tachycardia, Prolonged QT interval, Dysphagia... OMIM:613327
Bleeding Disorder, Platelet-Type, 24
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:619271
Paroxysmal Nocturnal Hemoglobinuria
Reduced haptoglobin level, Leukopenia, Anemia, Pulmonary embolism, Hemolytic anemia, Unconjugated... ORPHA:447
Beta-Thalassemia
Anemia, Abnormality of iron homeostasis, Hypertrophic cardiomyopathy, Thrombocytopenia, Abnormal ... ORPHA:848
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Optic atrophy, Vitreoretinopathy... OMIM:143200
Acute Myelomonocytic Leukemia
Leukocytosis, Anemia, Thrombocytopenia, Eosinophilia ORPHA:517
Glossopharyngeal Neuralgia
Abnormal glossopharyngeal nerve morphology, Cranial nerve compression, Syncope, Schwannoma, Jaw c... ORPHA:221098
Osteopetrosis, Autosomal Recessive 8
Anemia, Optic atrophy, Thrombocytopenia, Splenomegaly, Facial palsy OMIM:615085
Congenital Disorder Of Glycosylation, Type Im
Sparse eyebrow, Increased circulating free fatty acid level, Dilated cardiomyopathy, Sparse eyela... OMIM:610768
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Steatorrhea, Hypotriglyceridemia, Hypocholesterolemia, H... OMIM:246700
Sepsis In Premature Infants
Hypotension, Anemia, Tachycardia, Elevated circulating C-reactive protein concentration, Leukocyt... ORPHA:90051
Autosomal Recessive Progressive External Ophthalmoplegia
Abnormal retinal morphology, Optic atrophy, Facial palsy, Elevated circulating creatine kinase co... ORPHA:254886
Fanconi Anemia, Complementation Group G
Anemia, Thrombocytopenia, Neutropenia, Leukemia OMIM:614082
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Peripheral retinal degeneration, Optic atrophy, Optic disc pallor OMIM:609021
Infant Acute Respiratory Distress Syndrome
Hypotension, Cardiac arrest, Bradycardia, Tachycardia ORPHA:70587
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Thrombocytopenia, Anemia OMIM:619302
Hsd10 Mitochondrial Disease
Optic atrophy, Retinal degeneration, Elevated circulating tiglylglycine concentration, Agitation,... OMIM:300438
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... OMIM:619041
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hypermethioninemia, Hyperbilirubinemia, Pulmonic stenosis, Elevated circulating creatine kinase c... OMIM:614300
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Anemia, Extramedullary hematopoiesis, Thrombocytopenia, Neutropenia, Splenomegaly OMIM:615285
Bleeding Disorder, Platelet-Type, 20
Epistaxis, Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Epistaxis, Thrombocytopenia OMIM:613554
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia, Elevated circulating alpha-fetoprotein concentration OMIM:617243
Bernard-Soulier Syndrome
Epistaxis, Thrombocytopenia, Gastrointestinal hemorrhage, Giant platelets, Macrothrombocytopenia,... OMIM:231200
Lathosterolosis
Downslanted palpebral fissures, Wide nasal bridge, Abnormal circulating cholesterol concentration... OMIM:607330
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Sudden cardiac death, Right ventricular cardiomyopathy, Presyncope, Congestive heart failure, Pre... OMIM:604400
Distal Xq28 Microduplication Syndrome
Aplasia/Hypoplasia of the eyebrow, Epistaxis, Impulsivity, Neonatal hyperbilirubinemia, Attention... ORPHA:293939
Biliary Atresia, Extrahepatic
Increased total bilirubin, Hyperbilirubinemia, Unconjugated hyperbilirubinemia OMIM:210500
Non-Involuting Congenital Hemangioma
Thrombocytopenia, Congestive heart failure, Telangiectasia of the skin ORPHA:141179
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation OMIM:124900
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin OMIM:618528
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Retinal hemorrhage, Vitreous hemorrhage, Cerebral hemorrhage, Hyperbilirubinemia, Intracranial he... ORPHA:464321
D-Glyceric Aciduria
Bradycardia, Nonketotic hyperglycinemia, Optic nerve hypoplasia OMIM:220120
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Vasculitis, Pancytopenia, Thrombocytopenia, Hemophagocytosis, Elevated circulating... OMIM:308240
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia ORPHA:231401
Hyperinsulinism Due To Ucp2 Deficiency
Increased C-peptide level, Decreased circulating free fatty acid level, Syncope, Agitation, Hyper... ORPHA:276556
Congenital Disorder Of Glycosylation, Type Iik
Thrombocytopenia, Elevated circulating creatine kinase concentration OMIM:614727
Intermediate Osteopetrosis
Anemia, Cranial nerve compression, Optic atrophy from cranial nerve compression, Hypocalcemia, He... ORPHA:210110
Thrombocytopenia 5
Epistaxis, Anemia, Thrombocytopenia, Neutropenia OMIM:616216
Cardiomyopathy, Dilated, 2G
Right bundle branch block, Cerebral hemorrhage, Severely reduced left ventricular ejection fracti... OMIM:619897
Congenital Bile Acid Synthesis Defect Type 2
Abnormal serum bile acid concentration, Hyperbilirubinemia, Steatorrhea, Extramedullary hematopoi... ORPHA:79303
Sengers Syndrome
Hypertrophic cardiomyopathy, Thrombocytopenia OMIM:212350
Rhabdoid Tumor
Anemia, Hypertension, Internal hemorrhage, Hypercalcemia, Thrombocytopenia ORPHA:69077
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Incre... OMIM:613011
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hyperbilirubinemia, Elevated circulating long chain fatty acid concentration, Wide nasal bridge, ... OMIM:614886
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Bradycardia OMIM:619814
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anemia, Microangiopathic hemolytic anemia, Hypertension, Increased blood urea nitrogen, Elevated ... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anemia, Microangiopathic hemolytic anemia, Hypertension, Increased blood urea nitrogen, Elevated ... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anemia, Microangiopathic hemolytic anemia, Hypertension, Increased blood urea nitrogen, Elevated ... OMIM:612926
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:2134
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anemia, Microangiopathic hemolytic anemia, Hypertension, Increased blood urea nitrogen, Elevated ... OMIM:612924
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Anemia, Pancytopenia, Thrombocytopenia, Facial palsy OMIM:616435
Retinitis Pigmentosa 30
Rod-cone dystrophy, Optic atrophy, Bone spicule pigmentation of the retina, Attenuation of retina... OMIM:607921
Bone Marrow Failure Syndrome 2
Leukopenia, Anemia, Thrombocytopenia OMIM:615715
Fumarase Deficiency
Hyperbilirubinemia, Polycythemia, Optic atrophy OMIM:606812
Immunodeficiency 46
Conjunctivitis, Anemia, Neutropenia, Intermittent thrombocytopenia OMIM:616740
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Hypocholesterolemia, Decreased LDL cholesterol concentration, Decreased HDL cholesterol concentra... OMIM:616834
Retinitis Pigmentosa And Erythrocytic Microcytosis
Retinal pigment epithelial atrophy, Anemia, Retinal atrophy, Elliptocytosis, Decreased serum iron... OMIM:616959
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia, Congestive heart failure, Telangiectasia of the skin ORPHA:141184
Lujo Hemorrhagic Fever
Hypotension, Leukopenia, Myocarditis, Lymphopenia, Shock, Elevated circulating C-reactive protein... ORPHA:319213
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Pulmonary arterial hypertension, Methylmalonic acidemia, Hyperhomocystinemia, Hypomethioninemia, ... OMIM:614857
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume OMIM:252270
Mucopolysaccharidosis-Plus Syndrome
Leukopenia, Anemia, Telecanthus, Wide nasal bridge, Optic atrophy, Epicanthus, Chorioretinal hypo... OMIM:617303
Retinitis Pigmentosa 57
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:613582
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hyperbilirubinemia, Elevated circulating alpha-fetoprotein concentration, Portal hypertension, Th... OMIM:251880
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Attention deficit hyperact... ORPHA:90674
Squalene Synthase Deficiency
Decreased LDL cholesterol concentration, Epicanthus, Optic nerve hypoplasia, Elevated circulating... OMIM:618156
Hypermanganesemia With Dystonia 1
Unconjugated hyperbilirubinemia, Hypermanganesemia, Increased total iron binding capacity, Polycy... OMIM:613280
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Increased C-peptide level, Decreased circulating free fatty acid level, Syncope, Agitation, Hyper... ORPHA:276575
Bile Acid Synthesis Defect, Congenital, 2
Hyperbilirubinemia, Splenomegaly, Steatorrhea OMIM:235555
Sarcosinemia
Hypertrophic cardiomyopathy, Hypersarcosinemia, Pulmonic stenosis, Optic atrophy ORPHA:3129
Imerslund-Gräsbeck Syndrome
Megaloblastic anemia, Anisopoikilocytosis, Abnormal hemoglobin concentration, Reticulocytosis, Pa... ORPHA:35858
Acyl-Coa Dehydrogenase 9 Deficiency
Sudden cardiac death, Cerebellar hemorrhage, Elevated circulating acylcarnitine concentration, De... ORPHA:99901
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia, Decreased circulating cortisol level, Polyphagia OMIM:609734
Immunodeficiency 32B
Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Impaired oxidative burst, Thrombocytopenia, Sp... OMIM:226990
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Wolcott-Rallison Syndrome
Lymphocytosis, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Iron deficiency anemia, Neutrope... ORPHA:1667
Retinitis Pigmentosa 33
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... OMIM:610359
Pseudo-Torch Syndrome 2
Thrombocytopenia, Bradycardia, Cerebral hemorrhage OMIM:617397
Cholestasis, Benign Recurrent Intrahepatic, 1
Increased serum bile acid concentration, Conjugated hyperbilirubinemia OMIM:243300
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anemia, Microangiopathic hemolytic anemia, Hypertension, Increased blood urea nitrogen, Elevated ... OMIM:612925
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Crimean-Congo Hemorrhagic Fever
Hypotension, Hemoperitoneum, Elevated circulating creatine kinase concentration, Abnormal left ve... ORPHA:99827
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Pediatric-Onset Graves Disease
Hyperactivity, Abnormal eyelid morphology, Sinus tachycardia, Neutropenia in presence of anti-neu... ORPHA:525731
Myopathy With Extrapyramidal Signs
Hyperlysinemia, Hyperactivity, Optic atrophy, Epicanthus, Elevated circulating creatine kinase co... OMIM:615673
Tularemia
Conjunctivitis, Anemia, Leukocytosis, Thrombocytopenia, Tachycardia, Conjunctival hyperemia ORPHA:3392
Leishmaniasis
Leukopenia, Anemia, Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia, Splenomegaly,... ORPHA:507
Babesiosis
Leukopenia, Hemolytic anemia, Congestive heart failure, Myocardial infarction, Thrombocytopenia, ... ORPHA:108
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated circulating alpha-fetoprotein concentration, Increased serum bile acid concentration, Hy... OMIM:619662
Marburg Hemorrhagic Fever
Hypotension, Reticulocytosis, Elevated circulating creatine kinase concentration, Pericarditis, S... ORPHA:99826
Diffuse Neonatal Hemangiomatosis
Anemia, Thrombocytopenia, Hypercalcemia ORPHA:2123
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Unconjugated hyperbilirubinemia, Microangiopathic hemolytic anemia, Hypokalemia, Hypertension, Re... ORPHA:90038
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Thrombocytopenia, Splenomegaly OMIM:615010
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Bile Acid Synthesis Defect, Congenital, 1
Hypocholesterolemia, Steatorrhea, Splenomegaly, Conjugated hyperbilirubinemia OMIM:607765
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia, Cardiomyopathy ORPHA:67048
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, T-wave inversion, ST segment depression, Congestive heart failure, Left axis deviati... OMIM:261740
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Nephrotic Syndrome, Type 7
Thrombocytopenia, Hemolytic anemia OMIM:615008
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Sudden cardiac death, Cardiac arrest, Syncope, Premature ventricular contraction, Ventricular tac... OMIM:614916
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Downslanted palpebral fissures, Anemia, Bilateral ptosis, Heart murmur, Hyperbilirubinemia, Hypoc... ORPHA:163979
Hepatocellular Carcinoma
Hypotension, Anemia, Hypokalemia, Hyperbilirubinemia, Polycythemia, Internal hemorrhage, Thromboc... ORPHA:88673
Retinitis Pigmentosa 62
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:614181
Proximal Myopathy With Extrapyramidal Signs
Optic atrophy, Mildly elevated creatine kinase, Ptosis, Peripheral axonal neuropathy, Cardiomyopathy ORPHA:401768
Folate Malabsorption, Hereditary
Leukopenia, Thrombocytopenia, Neutropenia, Folate-responsive megaloblastic anemia OMIM:229050
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia OMIM:619232
Cone-Rod Dystrophy 16
Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule pigmentation of the re... OMIM:614500
Retinitis Pigmentosa 32
Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... OMIM:609913
Yellow Fever
Reduced left ventricular ejection fraction, Hyperbilirubinemia, Neutrophilia, Supraventricular ar... ORPHA:99829
Retinitis Pigmentosa 11
Rod-cone dystrophy, Macular edema, Macular degeneration, Macular atrophy, Bone spicule pigmentati... OMIM:600138
Cardiomyopathy, Dilated, 1G
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Pre... OMIM:604145
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity, Neonatal hyperbilirubinemia OMIM:609727
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Supraventricular tachycardia, Systolic anterior motion of the mitral valve,... OMIM:608758
Maternal Uniparental Disomy Of Chromosome 4
Decreased LDL cholesterol concentration, Rod-cone dystrophy, Optic atrophy, Elevated circulating ... ORPHA:96180
Bile Acid Synthesis Defect, Congenital, 4
Hyperbilirubinemia, Hematochezia, Decreased serum bile acid concentration OMIM:214950
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Poikilocytosis, Anisocytosis, Hypochromic anemia, Macrothrombocytopenia, Anemia of inadequate pro... ORPHA:67044
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pulmonary arterial hypertension, Leukopenia, Anemia, Hyperuricemia, Pancytopenia, Increased blood... OMIM:613845
Acquired Purpura Fulminans
Intracranial hemorrhage, Internal hemorrhage, Shock, Elevated circulating C-reactive protein conc... ORPHA:49566
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Sparse eyebrow, Wide nasal bridge, Hypertrophic cardiomyopathy, Peripheral axonal neuropathy, Hyp... OMIM:618810
Pearson Marrow-Pancreas Syndrome
Anemia, Reticulocytopenia, Hyperbilirubinemia, Refractory sideroblastic anemia, Sideroblastic ane... OMIM:557000
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormal circulating thyroglobulin level, Conjugated hyperbilirubinemia ORPHA:95715
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cerebellar hemorrhage, Leukopenia, Hyperglycinemia, Methylmalonic acidemia, Hyperammonemia, Throm... OMIM:251000
Cholestasis, Progressive Familial Intrahepatic, 1
Epistaxis, Splenomegaly, Conjugated hyperbilirubinemia OMIM:211600
Potocki-Lupski Syndrome
Hypocholesterolemia, Downslanted palpebral fissures, Hyperactivity, Oral-pharyngeal dysphagia OMIM:610883
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Chromosome Xq13 Duplication Syndrome
Short palpebral fissure, Hyperactivity, Medial flaring of the eyebrow, Sparse lateral eyebrow, Ep... OMIM:301069
Slc35A1-Cdg
Pulmonary hemorrhage, Abnormal platelet granules, Giant platelets, Thrombocytopenia, Neutropenia ORPHA:238459
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Idiopathic Aplastic Anemia
Retinal hemorrhage, Anemia, Reticulocytopenia, Pancytopenia, Epistaxis, Thrombocytopenia, Neutrop... ORPHA:88
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Caroli Syndrome
Leukopenia, Hypersplenism, Hyperbilirubinemia, Conjunctival icterus, Leukocytosis, Portal hyperte... ORPHA:480520
Leigh Syndrome With Leukodystrophy
Anemia, Optic atrophy, Hypertrophic cardiomyopathy, Ptosis, Pigmentary retinopathy ORPHA:255241
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Portal hypertension, Thrombocytopenia, Increased circulating ferritin concentration, Hepatospleno... ORPHA:210136
Hypothyroidism Due To Tsh Receptor Mutations
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, Bradycardia ORPHA:90673
Macrophage Activation Syndrome
Abnormal natural killer cell count, Anemia, Hypertriglyceridemia, Increased circulating ferritin ... ORPHA:158061
Zika Virus Disease
Conjunctivitis, Retinal pigment epithelial mottling, Abnormal optic disc morphology, Macular atro... ORPHA:448237
Stormorken Syndrome
Asplenia, Anemia, Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Epista... OMIM:185070
Congenital Heart Defects, Multiple Types, 3
Right bundle branch block, Atrioventricular dissociation, Atrioventricular block, Tachycardia, At... OMIM:614954
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Optic atrophy, Elevated circulating creatine kinase concentration OMIM:613151
Thrombocytopenia, Paris-Trousseau Type
Ptosis, Thrombocytopenia OMIM:188025
Dengue Fever
Hypotension, Leukopenia, Cerebral hemorrhage, Epistaxis, Hypoproteinemia, Gastrointestinal hemorr... ORPHA:99828
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Microangiopathic hemolytic anemia, Hypertension, Reticulocytosis, Increased blood urea nitrogen, ... OMIM:235400
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Poikilocytosis, Epistaxis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthoc... OMIM:300367
Wt Limb-Blood Syndrome
Thrombocytopenia, Leukemia, Pancytopenia, Hypoplastic anemia OMIM:194350
Ogden Syndrome
Torsade de pointes, Wide nasal bridge, Epicanthus, Premature atrial contractions, Dysphagia, Thro... OMIM:300855
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Impaired platelet aggregation, Poikilocytosis, Anisocytosis, Macrocytic anemia, T... OMIM:300835
Pseudo-Torch Syndrome 3
Anemia, Cerebral hemorrhage, Hypertension, Increased circulating ferritin concentration, Leukocyt... OMIM:618886
Retinitis Pigmentosa 81
Retinal pigment epithelial atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, A... OMIM:617871
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Retinitis Pigmentosa 73
Rod-cone dystrophy, Peripapillary atrophy, Macular crystals, Retinal atrophy, Bone spicule pigmen... OMIM:616544
Riboflavin Transporter Deficiency
Abnormal autonomic nervous system physiology, Hypertension, Ptosis, Dysphagia, Abnormal cranial n... ORPHA:97229
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Retinopathy, Thrombocytopenia, Splenomegaly, Blepharitis ORPHA:158029
Tangier Disease
Anemia, Hepatosplenomegaly, Facial diplegia, Peripheral axonal neuropathy, Ectropion, Hypocholest... ORPHA:31150
Thrombotic Thrombocytopenic Purpura, Hereditary
Transient ischemic attack, Microangiopathic hemolytic anemia, Reticulocytosis, Increased blood ur... OMIM:274150
Microphthalmia, Isolated 5
Retinal pigment epithelial atrophy, Optic disc drusen, Foveoschisis, Bone spicule pigmentation of... OMIM:611040
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Synophrys, Short nose, Impulsivity, Upslanted palpebral fissure OMIM:300143
Gaucher Disease, Type I
Pulmonary arterial hypertension, Anemia, Hypersplenism, Macular atrophy, Hypertension, Pancytopen... OMIM:230800
Propionic Acidemia
Cerebellar hemorrhage, Anemia, Hyperglycinemia, Pancytopenia, Hyperammonemia, Thrombocytopenia, N... OMIM:606054
Congenital Erythropoietic Porphyria
Reduced haptoglobin level, Leukopenia, Abnormal circulating porphyrin concentration, Hemolytic an... ORPHA:79277
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Pulmonary arterial hypertension, Leukopenia, Anemia, Telecanthus, Tricuspid regurgitation, Conjun... ORPHA:505248
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Antenatal intracerebral hemorrhage, Decreased plasma free carnitine, E... OMIM:608836
Immunodeficiency 97 With Autoinflammation
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... OMIM:619802
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Dysphagia, Cardiomyopathy, Optic atrophy, Abnormal EKG ORPHA:1177
Long Qt Syndrome 3
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular flutter, Ventricular tachycardia, ... OMIM:603830
Graft Versus Host Disease
Hyperbilirubinemia, Hemophagocytosis, Tachycardia, Hepatosplenomegaly ORPHA:39812
Transcobalamin Deficiency
Thrombocytopenia, Neutropenia, Pancytopenia, Lymphopenia ORPHA:859
Bile Acid Synthesis Defect, Congenital, 3
Hyperbilirubinemia, Hematochezia, Splenomegaly, Steatorrhea OMIM:613812
Noonan Syndrome 12
Supravalvular aortic stenosis, Thrombocytopenia, Lymphopenia OMIM:618624
Lysosomal Acid Lipase Deficiency
Leukopenia, Anemia, Hypersplenism, Steatorrhea, Hepatosplenomegaly, Increased LDL cholesterol con... OMIM:278000