Gene Summary

Name:
ubiquitin specific peptidase 38
Synonyms:
4631402N15Rik,  4833420O05Rik

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
increased total body fat amount Usp38tm1b(EUCOMM)Hmgu HOM Early adult 2.26×10-14
prolonged RR interval Usp38tm1b(EUCOMM)Hmgu HOM Early adult 9.60×10-05
decreased circulating creatinine level Usp38tm1b(EUCOMM)Hmgu HOM Early adult 1.80×10-05
thrombocytopenia Usp38tm1b(EUCOMM)Hmgu HOM Early adult 1.33×10-07
increased mean corpuscular volume Usp38tm1b(EUCOMM)Hmgu HOM Early adult 6.26×10-05
persistence of hyaloid vascular system Usp38tm1b(EUCOMM)Hmgu HOM Early adult 5.77×10-05
decreased prepulse inhibition Usp38tm1b(EUCOMM)Hmgu HOM Early adult 3.97×10-06
decreased lean body mass Usp38tm1b(EUCOMM)Hmgu HOM Early adult 1.95×10-15
abnormal bone structure Usp38tm1b(EUCOMM)Hmgu HOM   Early adult 5.55×10-07

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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  Wholemount images heterozygote 75% (3 of 4)
Aorta  Wholemount images heterozygote 100% (4 of 4)
Bone  Wholemount images heterozygote 100% (4 of 4)
Brain  Wholemount images heterozygote 100% (4 of 4)
Brainstem  Wholemount images heterozygote 100% (4 of 4)
Brown adipose tissue  Wholemount images heterozygote 100% (4 of 4)
Cartilage tissue  Wholemount images heterozygote 100% (4 of 4)
Cerebellum  Wholemount images heterozygote 100% (4 of 4)
Cerebral cortex  Wholemount images heterozygote 100% (4 of 4)
Esophagus  Wholemount images heterozygote 100% (4 of 4)
Eye  Wholemount images heterozygote 100% (4 of 4)
Gall bladder  Wholemount images heterozygote 100% (4 of 4)
Heart  Wholemount images heterozygote 100% (4 of 4)
Hippocampus  Wholemount images heterozygote 100% (4 of 4)
Hypothalamus  Wholemount images heterozygote 100% (4 of 4)
Kidney  Wholemount images heterozygote 100% (4 of 4)
Large intestine  Wholemount images heterozygote 100% (4 of 4)
Liver  Wholemount images heterozygote 100% (4 of 4)
Lower urinary tract  Wholemount images heterozygote 100% (4 of 4)
Lung  Wholemount images heterozygote 100% (4 of 4)
Lymph node  Wholemount images heterozygote 75% (3 of 4)
Mammary gland  Wholemount images heterozygote 50% (2 of 4)
Olfactory lobe  Wholemount images heterozygote 100% (4 of 4)
Oral epithelium  Wholemount images heterozygote 100% (4 of 4)
Ovary  Wholemount images heterozygote 50% (2 of 4)
Oviduct  Wholemount images heterozygote 50% (2 of 4)
Pancreas  Wholemount images heterozygote 100% (4 of 4)
Parathyroid gland  Wholemount images heterozygote 100% (4 of 4)
Peripheral nervous system  Wholemount images heterozygote 100% (4 of 4)
Peyer's patch  Wholemount images heterozygote 100% (4 of 4)
Pituitary gland  Wholemount images heterozygote 75% (3 of 4)
Prostate gland  Wholemount images heterozygote 50% (2 of 4)
Skin  Wholemount images heterozygote 100% (4 of 4)
Small intestine  Wholemount images heterozygote 100% (4 of 4)
Spinal cord  Wholemount images heterozygote 100% (4 of 4)
Spleen  Wholemount images heterozygote 100% (4 of 4)
Stomach  Wholemount images heterozygote 100% (4 of 4)
Striatum  Wholemount images heterozygote 100% (4 of 4)
Testis  Wholemount images heterozygote 50% (2 of 4)
Thymus  Wholemount images heterozygote 100% (4 of 4)
Thyroid gland  Wholemount images heterozygote 100% (4 of 4)
Trachea  Wholemount images heterozygote 100% (4 of 4)
Uterus  Wholemount images heterozygote 50% (2 of 4)
Vascular system  Wholemount images heterozygote 100% (4 of 4)
Skeletal muscle N/A heterozygote 0.0% (0 of 4)
White adipose tissue N/A heterozygote 0.0% (0 of 4)

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 66.67% (2 of 3)
Brain N/A homozygote 100% (3 of 3)
Ear N/A heterozygote Not available
Ear N/A homozygote Not available
Embryo N/A heterozygote 100% (3 of 3)
Embryo N/A homozygote 100% (3 of 3)
Eye N/A heterozygote 100% (3 of 3)
Eye N/A homozygote 100% (3 of 3)
Footplate N/A heterozygote Not available
Footplate N/A homozygote 33.33% (1 of 3)
Forebrain N/A heterozygote 66.67% (2 of 3)
Forebrain N/A homozygote 100% (3 of 3)
Forelimb N/A heterozygote 66.67% (2 of 3)
Forelimb N/A homozygote 66.67% (2 of 3)
Handplate N/A heterozygote Not available
Handplate N/A homozygote 33.33% (1 of 3)
Head N/A heterozygote 100% (3 of 3)
Head N/A homozygote 100% (3 of 3)
Heart N/A heterozygote Ambiguous
Heart N/A homozygote 33.33% (1 of 3)
Hindbrain N/A heterozygote 66.67% (2 of 3)
Hindbrain N/A homozygote 100% (3 of 3)
Hindlimb N/A heterozygote 66.67% (2 of 3)
Hindlimb N/A homozygote 66.67% (2 of 3)
Liver N/A heterozygote Not available
Liver N/A homozygote 33.33% (1 of 3)
Lung N/A heterozygote Not available
Lung N/A homozygote Not available
Mandibular process N/A heterozygote Not available
Mandibular process N/A homozygote 33.33% (1 of 3)
Maxillary process N/A heterozygote Not available
Maxillary process N/A homozygote 33.33% (1 of 3)
Midbrain N/A heterozygote 66.67% (2 of 3)
Midbrain N/A homozygote 100% (3 of 3)
Oral cavity N/A heterozygote Not available
Oral cavity N/A homozygote 33.33% (1 of 3)
Skin N/A heterozygote Not available
Skin N/A homozygote 33.33% (1 of 3)
Tail somite N/A heterozygote 66.67% (2 of 3)
Tail somite N/A homozygote 66.67% (2 of 3)
Tail N/A heterozygote 66.67% (2 of 3)
Tail N/A homozygote 100% (3 of 3)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.7% (4 of 573)
aorta 0.18% (1 of 571)
bone 0.0%
brain 0.53% (3 of 570)
brainstem 0.35% (2 of 564)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 569)
cerebellum 0.53% (3 of 565)
cerebral cortex 0.35% (2 of 565)
esophagus 1.8% (7 of 389)
eye 0.0%
gall bladder 0.0%
heart 0.35% (2 of 566)
hippocampus 0.53% (3 of 571)
hypothalamus 0.36% (2 of 560)
kidney 3.72% (21 of 565)
large intestine 1.78% (10 of 561)
liver 0.0%
lower urinary tract 0.0%
lung 0.35% (2 of 577)
lymph node 0.18% (1 of 566)
mammary gland 0.0%
olfactory lobe 0.18% (1 of 553)
oral epithelium 0.0%
ovary 0.18% (1 of 566)
oviduct 0.0%
pancreas 0.89% (5 of 559)
parathyroid gland 0.18% (1 of 546)
peripheral nervous system 0.35% (2 of 574)
peyers patch 0.0%
pituitary gland 0.18% (1 of 570)
prostate gland 1.77% (10 of 564)
skeletal muscle 0.0%
skin 0.18% (1 of 563)
small intestine 1.59% (9 of 565)
spinal cord 0.53% (3 of 566)
spleen 0.53% (3 of 566)
stomach 2.12% (12 of 565)
striatum 0.53% (3 of 567)
testis 1.05% (6 of 572)
thymus 0.18% (1 of 567)
thyroid gland 2.84% (16 of 563)
trachea 0.53% (3 of 562)
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%

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

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

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 508)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)

Associated Images

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

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

Echo

M-Mode Images

32 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

Adult LacZ

LacZ Images Wholemount

27 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

Auditory Brain Stem Response

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

4 Images

Human diseases caused by Usp38 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 Usp38 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:205950
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... ORPHA:232
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... OMIM:206000
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... OMIM:619041
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:206100
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Hyperbilirubinemia, Splen... OMIM:616689
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Familial Pseudohyperkalemia
Hyperkalemia, Hypertension, Increased mean corpuscular volume, Stomatocytosis, Episodic hemolytic... ORPHA:90044
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume OMIM:261000
Congenital Dyserythropoietic Anemia Type Iii
Increased serum iron, Increased mean corpuscular volume, Anemia, Hyperbilirubinemia, Melena, Anis... ORPHA:98870
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Poikilocytosis, ... OMIM:615234
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Thrombocytopenia 4
Thrombocytopenia OMIM:612004
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Osteopenia, ... OMIM:618849
Diamond-Blackfan Anemia 3
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:610629
Diamond-Blackfan Anemia 8
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume OMIM:612563
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Decreased skull ossification, Abnormal hemoglobin ORPHA:3319
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Decreased serum creatinine, Myocardial infarction, Reticulocyt... ORPHA:54057
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia OMIM:124900
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia ORPHA:231393
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Hyperhomocystinemia, Hypomethioninemia, Neutropenia, Increased mean corpuscula... ORPHA:2169
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Thrombocytopenia 7
Reduced platelet dense granules, Impaired ristocetin-induced platelet aggregation, Impaired colla... OMIM:619130
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia, Hypertension OMIM:166990
Refractory Anemia With Excess Blasts
Leukocytosis, Retinal hemorrhage, Palpitations, Abnormal mean corpuscular volume, Abnormal circul... ORPHA:86839
Diamond-Blackfan Anemia 6
Macrocytic anemia, Increased mean corpuscular volume, Mitral regurgitation, Failure to thrive, Pe... OMIM:612561
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Neutropenia, Leukopenia, Failure to thrive, Anemia, Splenomegaly, Extramedullary hematopoiesis, T... OMIM:615285
Forsythe-Wakeling Syndrome
Thrombocytopenia, Decreased body weight, Osteoporosis OMIM:613606
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia OMIM:167850
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Amegakaryocytic Thrombocytopenia, Congenital
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia, Thrombocytopenia, Microangiopathic hemolytic anemia, Ventricular arrhythmia OMIM:141000
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Failure to thrive, Osteopetrosis, Anemia, Splenomegaly, Thrombocytopenia OMIM:615085
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia, Multiple lipomas ORPHA:529
Refractory Anemia
Abnormal cardiac ventricular function, Macrocytic anemia, Normocytic anemia, Neutropenia, Normoch... ORPHA:98826
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Erythroid hyperplasia, Elevated hepatic iron concentration, Anemia, Splenomegaly, In... OMIM:616860
Majeed Syndrome
Erythroid hyperplasia, Failure to thrive, Hepatosplenomegaly, Microcytic anemia, Flexion contract... OMIM:609628
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Hyperhomocystinemia, Hypomethioninemia, Methylmalonic acidemia, Increased mean corpuscular volume... OMIM:277410
Preeclampsia/Eclampsia 1
Thrombocytopenia, Hypertension OMIM:189800
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... ORPHA:3203
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia, Rickets, Failure to thrive, Hepatosplenomegaly, Reticulocytosis, Decreased mean corp... OMIM:611590
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Bleeding Disorder, Platelet-Type, 16
Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired... OMIM:187800
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Preeclampsia
Hypertension, Elevated diastolic blood pressure, Small for gestational age, Elevated circulating ... ORPHA:275555
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Acute Myelomonocytic Leukemia
Leukocytosis, Weight loss, Anemia, Thrombocytopenia, Eosinophilia ORPHA:517
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thrombocytopenia OMIM:133180
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia OMIM:131400
Polycythemia Vera
Cerebral hemorrhage, Thrombocytosis, Leukocytosis, Increased red blood cell mass, Budd-Chiari syn... OMIM:263300
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia... ORPHA:75564
Malaria
Thrombocytopenia, Elevated circulating C-reactive protein concentration, Anemia, Hyperbilirubinemia ORPHA:673
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Anemia, Decreased serum iron, Retinal pigment epithelial atrophy, Anisocytosis... OMIM:616959
Platelet Signal Processing Defect
Impaired epinephrine-induced platelet aggregation, Epistaxis, Impaired collagen-induced platelet ... OMIM:173590
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Anemia, Splenomegaly, Osteopenia, Hypersplenism, Thrombocytopenia OMIM:610539
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia, Lipoatrophy, Telangiectasia of the skin, Congestive heart failure ORPHA:141184
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hypertension, Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, A... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hypertension, Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, A... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hypertension, Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, A... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hypertension, Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, A... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hypertension, Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, A... OMIM:612926
Shwachman-Diamond Syndrome
Chronic neutropenia, Macrocytic anemia, Neutropenia, Normocytic anemia, Leukopenia, Increased mea... ORPHA:811
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Epistaxis, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Anemia, Sideroblastic, 5
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia OMIM:619523
Fetal Parvovirus Syndrome
Hypertrophic cardiomyopathy, Thrombocytopenia, Anemia ORPHA:295
Congenital Disorder Of Glycosylation, Type Iik
Elevated circulating creatine kinase concentration, Failure to thrive, Osteoporosis, Amelogenesis... OMIM:614727
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Retinal degeneration, Thiamine-responsive megaloblastic anemia, Cardiomyopathy, Si... OMIM:249270
Intellectual Developmental Disorder With Cardiac Arrhythmia
Arrhythmia, Retinal degeneration, Bradycardia, Sick sinus syndrome OMIM:617173
Diamond-Blackfan Anemia 7
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume, Osteoporosis, Osteopenia OMIM:612562
Beta-Thalassemia Intermedia
Leukocytosis, Abnormality of iron homeostasis, Erythroid hyperplasia, Elevated hepatic iron conce... ORPHA:231222
Sebastian syndrome
Neutrophil inclusion bodies, Epistaxis, Leukocyte inclusion bodies, Giant platelets, Thrombocytop... OMIM:605249
Hemophagocytic Lymphohistiocytosis, Familial, 4
Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglycerid... OMIM:603552
Renal Failure, Progressive, With Hypertension
Hypertension, Elevated circulating creatinine concentration OMIM:161900
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Paroxysmal atrial tachycardia, Megaloblastic anemia, Cardiac arrest, Congestive he... ORPHA:49827
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Impaired epinephrine-induced platelet aggregation, Impaired arach... OMIM:619271
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Myelofibrosis, Anemia, Splenomegaly, Thrombocytopenia OMIM:617441
Gray Platelet Syndrome
Thrombocytopenia, Epistaxis, Abnormality of thrombocytes, Splenomegaly ORPHA:721
Beta-Thalassemia
Hypertrophic cardiomyopathy, Abnormality of iron homeostasis, Anemia, Abnormal hemoglobin, Spleno... ORPHA:848
16Q24.3 Microdeletion Syndrome
Dilated cardiomyopathy, Increased mean corpuscular volume, Mitral regurgitation, Optic nerve hypo... ORPHA:261250
Ghosal Hematodiaphyseal Dysplasia
Leukopenia, Refractory anemia, Hyperostosis cranialis interna, Myelofibrosis, Increased bone mine... OMIM:231095
Osteopetrosis, Autosomal Recessive 4
Optic atrophy, Optic disc pallor, Osteopetrosis, Anemia, Splenomegaly, Hepatosplenomegaly, Reticu... OMIM:611490
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased serum iron, Decreased transferrin saturation, Anisopoikilocytosis, Elevated hepatic iro... ORPHA:300298
Relapsing Fever
Leukocytosis, Leukopenia, Elevated circulating creatinine concentration, Epistaxis, Anemia, Incre... ORPHA:91547
Atrial Standstill
Syncope, Abnormal P wave, Atrial standstill, Ventricular escape rhythm, Reduced ejection fraction... ORPHA:1344
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Thrombocytopenia, Hypertension, Arrhythmia, Sideroblastic anemia OMIM:617021
Sea-Blue Histiocyte Disease
Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Gastrointestinal hemorrhage, Giant platelets OMIM:137560
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Optic atrophy, Neutropenia, Failure to thrive, Anemia, Cardiomyopathy, Splenomegaly, Hyperammonem... ORPHA:79312
Cernunnos-Xlf Deficiency
B lymphocytopenia, Anemia, Lymphopenia, Thrombocytopenia, T lymphocytopenia ORPHA:169079
Fanconi Anemia, Complementation Group G
Leukemia, Thrombocytopenia, Neutropenia, Anemia OMIM:614082
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia ORPHA:1980
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Neutrophil inclusion bodies, Epistaxis, Leukocyte inclusion bodies, Myocardial infarction, Giant ... OMIM:155100
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Hypertension, Abnormal platelet aggregation, Raynaud phenomenon ORPHA:401945
Eisenmenger Syndrome
Right ventricular failure, Syncope, Left-to-right shunt, Ventricular arrhythmia, Elevated circula... ORPHA:97214
Elliptocytosis 3
Decreased mean corpuscular volume, Chronic hemolytic anemia, Pyropoikilocytosis, Elliptocytosis OMIM:617948
Macrothrombocytopenia and progressive sensorineural deafness
Thrombocytopenia, Macrothrombocytopenia, Giant platelets OMIM:600208
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Leukopenia OMIM:615715
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Congenital Disorder Of Glycosylation, Type Ix
Failure to thrive, Thrombocytopenia, Optic atrophy OMIM:615597
Vitamin B12-Unresponsive Methylmalonic Acidemia
Optic atrophy, Macrocytic anemia, Leukopenia, Anemia, Cardiomyopathy, Hyperammonemia, Thrombocyto... ORPHA:27
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia, Epistaxis OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia, Epistaxis OMIM:613554
Atrial Fibrillation, Familial, 18
Palpitations, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Bradycardia OMIM:617280
Autoinflammation With Infantile Enterocolitis
Failure to thrive, Anemia, Splenomegaly, Reduced natural killer cell count, Increased circulating... OMIM:616050
Chronic Atrial And Intestinal Dysrhythmia
Atrial fibrillation, Mitral regurgitation, Failure to thrive, Bradycardia, Pulmonic stenosis, Atr... OMIM:616201
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomegaly, Hypertrig... OMIM:613101
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Abnormality of iron homeostasis, Failure to thrive in infancy, Hypochromi... ORPHA:231226
Atypical Hemolytic Uremic Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:2134
Blackfan-Diamond Anemia
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased mean corpuscu... ORPHA:124
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Neutropenia, Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocyto... OMIM:159550
Tako-Tsubo Cardiomyopathy
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... ORPHA:66529
Slc35A1-Cdg
Neutropenia, Pulmonary hemorrhage, Abnormal platelet granules, Giant platelets, Thrombocytopenia,... ORPHA:238459
Beta-Thalassemia Major
Dilated cardiomyopathy, Abnormality of iron homeostasis, Anisopoikilocytosis, Failure to thrive i... ORPHA:231214
Neonatal Lupus Erythematosus
Hemolytic anemia, Dilated cardiomyopathy, Neutropenia, Prolonged QT interval, Atrioventricular bl... ORPHA:398124
Thrombocytopenia 5
Anemia, Thrombocytopenia, Epistaxis, Neutropenia OMIM:616216
Coach Syndrome 2
Coloboma, Hypertension, Elevated circulating creatinine concentration, Chorioretinal coloboma OMIM:619111
Imerslund-Gräsbeck Syndrome
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... ORPHA:35858
Wolfram Syndrome, Mitochondrial Form
Optic atrophy, Neutropenia, Megaloblastic anemia, Sideroblastic anemia, Thrombocytopenia OMIM:598500
Drug-Induced Lupus Erythematosus
Pericarditis, Elevated circulating creatine kinase concentration, Prolonged QTc interval, Anemia,... ORPHA:231111
Fanconi Anemia, Complementation Group T
Pancytopenia, Thrombocytopenia, Anemia OMIM:616435
Non-Involuting Congenital Hemangioma
Thrombocytopenia, Telangiectasia of the skin, Congestive heart failure ORPHA:141179
Bleeding Disorder, Platelet-Type, 19
Epistaxis, Macrothrombocytopenia, Anemia OMIM:616176
Idiopathic Neonatal Atrial Flutter
Abnormal QRS complex, Reduced ejection fraction, Supraventricular tachycardia, Large for gestatio... ORPHA:45452
Thrombotic Thrombocytopenic Purpura, Hereditary
Schistocytosis, Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration,... OMIM:274150
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617182
+173470 integrin, beta-3
Post-transfusion thrombocytopenia, Intracranial hemorrhage, Epistaxis, Decreased platelet glycopr... OMIM:173470
Transaldolase Deficiency
Abnormal circulating glutamine concentration, Telangiectasia, Anemia, Hepatosplenomegaly, Increas... ORPHA:101028
3-Methylglutaconic Aciduria Type 4
Failure to thrive, Thrombocytopenia, Cardiomyopathy ORPHA:67048
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hypertension, Schistocytosis, Hyperlipidemia, Microangiopathic hemolytic anemia, Elevated circula... OMIM:235400
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Optic atrophy, Neutropenia, Anemia, Hyperammonemia, Thrombocytopenia ORPHA:289916
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocytopenia, Anemia of inadequate pro... ORPHA:67044
Coenzyme Q10 Deficiency, Primary, 8
Hypertension, Elevated circulating creatinine concentration, Small for gestational age, Flexion c... OMIM:616733
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Rhabdoid Tumor
Hypercalcemia, Hypertension, Weight loss, Anemia, Thrombocytopenia, Internal hemorrhage ORPHA:69077
Osteopetrosis, Autosomal Recessive 2
Optic atrophy, Cranial hyperostosis, Osteopetrosis, Anemia, Diaphyseal sclerosis, Hepatosplenomeg... OMIM:259710
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Nephrotic Syndrome, Type 7
Thrombocytopenia, Hemolytic anemia OMIM:615008
Wt Limb-Blood Syndrome
Hypoplastic anemia, Leukemia, Pancytopenia, Thrombocytopenia, Joint contracture of the 5th finger OMIM:194350
Combined Oxidative Phosphorylation Deficiency 14
Thrombocytopenia, Aminoaciduria, Anemia OMIM:614946
Specific Granule Deficiency 2
Neutropenia, Absent neutrophil specific granules, Failure to thrive, Anemia, Amelogenesis imperfe... OMIM:617475
Aggressive Systemic Mastocytosis
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Weight loss, Osteoporosis, Anemia, Abnorma... ORPHA:98850
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Thrombocytopenia, Anemia OMIM:619302
Thrombocytopenia With Beta-Thalassemia, X-Linked
Epistaxis, Splenomegaly, Reticulocytosis, Thrombocytopenia, Hemolytic anemia OMIM:314050
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... OMIM:616117
Immunodeficiency 46
Anemia, Neutropenia, Failure to thrive, Intermittent thrombocytopenia OMIM:616740
Brugada Syndrome
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... ORPHA:130
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Elevated alpha-fetoprotein, Neutropenia OMIM:617243
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Anemia, Hyperbilirubinemia, Splenomegaly, Acute myeloi... ORPHA:158057
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Hyperhomocystinemia, Neutropenia, Methylmalonic acidemia, Homocystinuria, Pulmonary arterial hype... OMIM:614857
Acyl-Coa Dehydrogenase 9 Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Failure to thrive, Fatigable weakness, Eleva... ORPHA:99901
Idiopathic Aplastic Anemia
Neutropenia, Epistaxis, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Retinal hemorr... ORPHA:88
Propionic Acidemia
Neutropenia, Failure to thrive, Osteoporosis, Anemia, Cardiomyopathy, Hyperglycinemia, Hyperammon... OMIM:606054
Osteopetrosis, Autosomal Recessive 1
Optic atrophy, Failure to thrive, Osteopetrosis, Craniosynostosis, Anemia, Calvarial osteoscleros... OMIM:259700
Bernard-Soulier Syndrome
Epistaxis, Impaired ristocetin-induced platelet aggregation, Gastrointestinal hemorrhage, Giant p... OMIM:231200
Congenital Toxoplasmosis
Thrombocytopenia, Abnormality of retinal pigmentation, Anemia, Failure to thrive in infancy ORPHA:858
Isovaleric Acidemia
Leukopenia, Hyperglycinuria, Pancytopenia, Thrombocytopenia, Cerebellar hemorrhage OMIM:243500
Cardiogenic Shock
Right ventricular failure, Mitral regurgitation, Low pulse pressure, Elevated circulating creatin... ORPHA:97292
Sengers Syndrome
Hypertrophic cardiomyopathy, Thrombocytopenia OMIM:212350
Hereditary Arterial And Articular Multiple Calcification Syndrome
Abnormal cardiovascular system physiology, Decreased serum creatinine, Arterial occlusion ORPHA:289601
Diffuse Alveolar Hemorrhage
Leukocytosis, Elevated circulating creatinine concentration, Weight loss, Anemia, Pulmonary venou... ORPHA:90060
Leishmaniasis
Leukopenia, Weight loss, Anemia, Splenomegaly, Abnormal macrophage morphology, Hypoalbuminemia, P... ORPHA:507
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Acanthocytosis, Epistaxis, Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate prod... OMIM:300367
Congenital Disorder Of Glycosylation, Type Iif
Neutropenia, Decreased platelet glycoprotein Ib, Aortic regurgitation, Pulmonary hemorrhage, Thro... OMIM:603585
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Leukopenia, Failure to thrive, Cardiomyopathy, Hyperglycinemia, Hyperammo... OMIM:251000
Isolated Agammaglobulinemia
Failure to thrive, Abnormal lymphocyte morphology, Anemia, Thrombocytopenia, Cellulitis, Abnormal... ORPHA:229717
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Leukopenia, Failure to thrive, Pulmonary arterial hypertension, Anemia, Hyperuricem... OMIM:613845
Progressive Familial Heart Block, Type Ib
Syncope, Prolonged QT interval, Atrioventricular block, Left anterior fascicular block, Bradycard... OMIM:604559
Aapoaiv Amyloidosis
Abnormal cardiac ventricular function, Hypertrophic cardiomyopathy, Hypertension, Sinus bradycard... ORPHA:439232
Familial Short Qt Syndrome
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... ORPHA:51083
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Elevated systolic blood pressure, Decreased serum creatinine, Decreased circulating... OMIM:300539
Long Qt Syndrome 15
Prolonged QT interval, Prolonged QTc interval, Bradycardia, Cardiac arrest, Ventricular fibrillation OMIM:616249
Long Qt Syndrome 16
T-wave alternans, Prolonged QTc interval, Bradycardia, Second degree atrioventricular block OMIM:618782
Babesiosis
Leukopenia, Splenomegaly, Myocardial infarction, Congestive heart failure, Thrombocytopenia, Hemo... ORPHA:108
Thrombocytopenia 6
Myelofibrosis, Thrombocytopenia, Osteoporosis, Spontaneous, recurrent epistaxis OMIM:616937
Romano-Ward Syndrome
Syncope, Sinus bradycardia, Abnormal T-wave, Ventricular arrhythmia, Hypokalemia, Torsade de poin... ORPHA:101016
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Epistaxis, Mye... OMIM:139090
Omenn Syndrome
B lymphocytopenia, Hypoproteinemia, Failure to thrive, Hypoplasia of the thymus, Anemia, Splenome... OMIM:603554
Castleman Disease
Restrictive cardiomyopathy, Weight loss, Anemia, Myelofibrosis, Thrombocytopenia, Decreased mean ... ORPHA:160
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Autoimmune thromb... OMIM:613011
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Small for gestational age, Elevated circulating creatine kinase conc... OMIM:618775
Phosphoglycerate Dehydrogenase Deficiency
Thrombocytopenia, Megaloblastic anemia OMIM:601815
Transcobalamin Deficiency
Pancytopenia, Thrombocytopenia, Neutropenia, Lymphopenia ORPHA:859
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Osteopetrosis, Autosomal Recessive 5
Optic atrophy, Optic disc pallor, Osteopetrosis, Anemia, Decreased osteoclast count, Hyperbilirub... OMIM:259720
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Hypercalcemia, Anemia ORPHA:2123
Primary Myelofibrosis
Leukocytosis, Thrombocytosis, Cachexia, Anemia, Splenomegaly, Hepatosplenomegaly, Poikilocytosis,... ORPHA:824
C3 Glomerulopathy
Hypertension, Elevated circulating creatinine concentration, Lipodystrophy ORPHA:329918
Sick Sinus Syndrome 4
Syncope, Abnormal QRS complex, Sinus bradycardia, Abnormal PR interval, Atrioventricular block, A... OMIM:619464
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Abnormal dense granule content, Epistaxis, Acute myeloid leukemia, Abnormal alpha granule content... OMIM:601399
Idiopathic Non-Lupus Full-House Nephropathy
Hypertension, Elevated circulating creatinine concentration ORPHA:567544
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration, Non-caseating epithelioid cell granulomatosis OMIM:607665
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Congenital Disorder Of Glycosylation, Type Ih
Failure to thrive, Anemia, Hypoalbuminemia, Thrombocytopenia, Camptodactyly OMIM:608104
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Failure to thrive, Anisocytosis, Poikilocytosis, Chronic hemolytic anemia, Reticulocytosis, Decre... OMIM:618278
Gaucher Disease, Type I
Hypertension, Macular atrophy, Mitral regurgitation, Epistaxis, Anemia, Pulmonary arterial hypert... OMIM:230800
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... ORPHA:521
Systemic Mastocytosis With Associated Hematologic Neoplasm
Leukocytosis, Chronic lymphatic leukemia, Syncope, Normocytic anemia, Normochromic anemia, Chroni... ORPHA:98849
Folate Malabsorption, Hereditary
Neutropenia, Leukopenia, Failure to thrive, Thrombocytopenia, Folate-responsive megaloblastic anemia OMIM:229050
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Neutropenia, Congenital thrombocytopenia OMIM:616738
Long Qt Syndrome 14
T-wave alternans, Sinus bradycardia, Prolonged QT interval, Atrioventricular block, Prolonged QTc... OMIM:616247
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Neutropenia, Failure to thrive, Anemia, Large for gestational age, Thrombocytopenia, Aminoaciduri... OMIM:614520
Snakebite Envenomation
Hyponatremia, Intracranial hemorrhage, Epistaxis, Tachycardia, Cerebral ischemia, Cardiogenic sho... ORPHA:449285
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Ventricular tachycardia, Syncope, Bradycardia OMIM:611938
Atrial Standstill 2
Atrial standstill, Scarring, Palpitations, Bradycardia, Cardiomyopathy, Atrial cardiomyopathy, Ab... OMIM:615745
Gaucher Disease, Type Iii
Pancytopenia, Thrombocytopenia, Decreased body weight, Splenomegaly OMIM:231000
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Reduced ejection fraction, Angina pectoris, Restrictive cardiomyopat... ORPHA:85451
Amed Syndrome, Digenic
Leukopenia, Failure to thrive, Anemia, Acute myeloid leukemia, Thrombocytopenia OMIM:619151
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Leukopenia, Increased LDL... OMIM:267700
Autoinflammatory Syndrome, Familial, Behcet-Like
Thrombocytopenia, Hemolytic anemia, Lymphopenia OMIM:616744
Congenital Disorder Of Glycosylation, Type Iig
Failure to thrive in infancy, Anemia, Osteopenia, Camptodactyly, Thrombocytopenia OMIM:611209
Methylmalonic Aciduria, Cblb Type
Neutropenia, Methylmalonic acidemia, Failure to thrive, Anemia, Hyperglycinemia, Hyperammonemia, ... OMIM:251110
Proteasome-Associated Autoinflammatory Syndrome 2
Failure to thrive, Thrombocytopenia OMIM:618048
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Thrombocytopenia, Megaloblastic anemia OMIM:613839
Stormorken Syndrome
Asplenia, Elevated circulating creatine kinase concentration, Epistaxis, Anemia, Howell-Jolly bod... OMIM:185070
Gaucher Disease, Type Ii
Failure to thrive, Thrombocytopenia, Anemia, Splenomegaly OMIM:230900
Immunodeficiency, Common Variable, 12, With Autoimmunity
Thrombocytopenia, Autoimmune hemolytic anemia OMIM:616576
Car T Cell Therapy-Associated Cytokine Release Syndrome
Reduced ejection fraction, Elevated circulating creatinine concentration, Hyperbilirubinemia, Hea... ORPHA:542323
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Hyperhomocystinemia, Neutropenia, Cystathioninuria, Methylmalonic acidemia, Cystathioninemia, Fai... OMIM:277380
Felty Syndrome
Neutropenia, Pericarditis, Weight loss, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Thr... ORPHA:47612
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Splenomegaly, Lymphocytosis, Vasculitis, Pancytopenia, Thrombocytopenia, Aplastic an... OMIM:308240
Fechtner syndrome
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:153640
Bleeding Disorder, Platelet-Type, 17
Epistaxis, Myelofibrosis, Absence of alpha granules, Gastrointestinal hemorrhage, Thrombocytopenia OMIM:187900
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:603909
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia OMIM:314000
Bone Marrow Failure Syndrome 4
Thrombocytopenia, Anemia, Leukopenia OMIM:618116
Noonan Syndrome 12
Supravalvular aortic stenosis, Thrombocytopenia, Lymphopenia OMIM:618624
Immune Thrombocytopenia
Cerebral hemorrhage, Thrombocytopenia, Gastrointestinal hemorrhage, Epistaxis ORPHA:3002
Congenital Enterovirus Infection
Myocarditis, Leukocytosis, Neutropenia, Leukopenia, Anemia, Cardiomyopathy, Hyperammonemia, Abnor... ORPHA:292
Pelger-Huet Anomaly
Neutropenia, Failure to thrive, Hyposegmentation of neutrophil nuclei, Giant platelets, Thrombocy... OMIM:169400
Myh9-Related Disease
Neutrophil inclusion bodies, Increased mean platelet volume, Spontaneous, recurrent epistaxis, My... ORPHA:182050
Dyskeratosis Congenita, Autosomal Dominant 2
Dilated cardiomyopathy, Leukopenia, Failure to thrive, Osteoporosis, Pancytopenia, Thrombocytopen... OMIM:613989
Systemic Lupus Erythematosus
Thrombocytopenia, Hemolytic anemia, Pericarditis, Leukopenia OMIM:152700
Proteasome-Associated Autoinflammatory Syndrome 3
Failure to thrive, Panniculitis, Anemia, Lipodystrophy, Splenomegaly, Lymphopenia, Flexion contra... OMIM:617591
Bacterial Toxic-Shock Syndrome
Myocarditis, Shock, Increased circulating myelocyte count, Elevated circulating creatine kinase c... ORPHA:36234
Quebec Platelet Disorder
Thrombocytopenia, Joint hemorrhage, Impaired epinephrine-induced platelet aggregation, Epistaxis OMIM:601709
Methylmalonic Aciduria, Cbla Type
Neutropenia, Methylmalonic acidemia, Failure to thrive, Anemia, Hyperglycinemia, Hyperammonemia, ... OMIM:251100
Aicardi-Goutieres Syndrome 4
Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly OMIM:610333
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Anemia, Splenomegaly, Osteolysis, Autoimmune thrombocytopenia, Th... ORPHA:100026
Dopamine Beta-Hydroxylase Deficiency
Syncope, Orthostatic hypotension, Orthostatic syncope, Elevated circulating creatinine concentrat... ORPHA:230
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Atrial fibrillati... OMIM:115200
Sick Sinus Syndrome 1
Sinus bradycardia, Prolonged QT interval, Ventricular escape rhythm, Atrioventricular block, Abse... OMIM:608567
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Decreased plasma free carnitine, Failure to thrive, Bradycardia, Hyperalaninemia, Congestive hear... OMIM:619048
Aicardi-Goutieres Syndrome 7
Thrombocytopenia, Vasculitis, Splenomegaly OMIM:615846
Thyrocerebrorenal Syndrome
Thrombocytopenia ORPHA:3327
Aicardi-Goutieres Syndrome 5
Thrombocytopenia, Flexion contracture OMIM:612952
Macrophage Activation Syndrome
Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglycerid... ORPHA:158061
Alg8-Cdg
Optic atrophy, Hyponatremia, Small for gestational age, Failure to thrive, Anemia, Camptodactyly,... ORPHA:79325
Necrotizing Enterocolitis
Shock, Leukocytosis, Hyponatremia, Neutropenia, Small for gestational age, Bradycardia, Thrombocy... ORPHA:391673
Myopathy, Myofibrillar, 1
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Restric... OMIM:601419
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Failure to thrive, Lymphocytosis, Vasculitis, Thrombocytopenia OMIM:617718
Immunodeficiency 91 And Hyperinflammation
Monocytosis, Failure to thrive, Pulmonary hemorrhage, Neutrophilia, Hepatosplenomegaly, Thrombocy... OMIM:619644
X-Linked Agammaglobulinemia
Neutropenia, Failure to thrive, Weight loss, Anemia, Hypocalcemia, Thrombocytopenia, Cellulitis ORPHA:47
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Posterior lenticonus, Chorioretinal coloboma, Iris coloboma ORPHA:231736
Fetal Gaucher Disease
Abnormality of the spleen, Intracranial hemorrhage, Arthrogryposis multiplex congenita, Splenomeg... ORPHA:85212
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Arrhythmia, Bradycardia, Atrial fibrillation OMIM:614302
Congenital Rubella Syndrome
Thrombocytopenia, Abnormality of retinal pigmentation, Anemia, Splenomegaly ORPHA:290
Dengue Fever
Cerebral hemorrhage, Hypoproteinemia, Leukopenia, Epistaxis, Gastrointestinal hemorrhage, Thrombo... ORPHA:99828
Idiopathic Congenital Hypothyroidism
Delayed proximal femoral epiphyseal ossification, Bradycardia, Umbilical hernia, Neonatal hyperbi... ORPHA:95717
Aregenerative Anemia
Neutropenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Decreased proport... ORPHA:101096
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Leukocytosis, Hyponatremia, Hypertension, Unconjugated hyperbilirubinemia, Schistocytosis, Microa... ORPHA:90038
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Thrombocytopenia OMIM:254900
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Intracranial hemorrhage, Acute leukemia, Weight loss, Splenomegaly, Myeloproliferat... ORPHA:3226
Short Qt Syndrome 2
Syncope, Shortened QT interval, Atrial fibrillation, Bradycardia, Sudden cardiac death, Ventricul... OMIM:609621
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Hypertension, Telangiectasia, Normocytic anemia, Normochromic anemia, Elevated circulating creati... ORPHA:247691
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Thrombocytopenia, Hepatosplenomegaly, Portal hypertension, Increased circulating ferritin concent... ORPHA:210136
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Atrial fibrillation, Elevated circulating creatine kinase concentration, F... OMIM:613327
Lig4 Syndrome
Pancytopenia, Thrombocytopenia, Telangiectasia, Failure to thrive OMIM:606593
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Hypertension, Neutropenia, Anemia, Cerebral ischemia, Osteopenia, Tra... OMIM:242900
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Neutropenia, Leukopenia, Monocytosis, Mitral regurgitation, Failure to thrive, Hypoplasia of the ... OMIM:612541
Lysosomal Acid Lipase Deficiency
Decreased HDL cholesterol concentration, Leukopenia, Increased LDL cholesterol concentration, Fai... OMIM:278000
Wolfram Syndrome 1
Optic atrophy, Megaloblastic anemia, Cardiomyopathy, Sideroblastic anemia, Pigmentary retinopathy... OMIM:222300
Stt3B-Cdg
Failure to thrive, Thrombocytopenia, Optic atrophy ORPHA:370924
Tularemia
Leukocytosis, Anemia, Thrombocytopenia, Tachycardia ORPHA:3392
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Progressive Familial Heart Block, Type Ii
Syncope, Sinus bradycardia, Atrioventricular block, Complete heart block with narrow QRS complexe... OMIM:140400
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Acquired Purpura Fulminans
Shock, Intracranial hemorrhage, Thrombocytopenia, Elevated circulating C-reactive protein concent... ORPHA:49566
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Cerebral hemorrhage, Hypertrophic cardiomyopathy, Intracranial hemorrhage, Hip contracture, Osteo... ORPHA:464321
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Thrombocytopenia, Leukocytosis, Hyponatremia, Cerebral vasculitis ORPHA:83601
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Leukocytosis, Hypertension, Anemia, Increased circulating ferritin concentra... OMIM:618886
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Thrombocytopenia OMIM:613987
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypoproteinemia, Leukopenia, Failure to thrive, Anemia, Increased total bilirubin, ... OMIM:603553
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Optic atrophy, Bradycardia, Inguinal hernia, Flexion contracture OMIM:614498
Pediatric-Onset Graves Disease
Hypertension, Atrial fibrillation, Neutropenia in presence of anti-neutropil antibodies, Palpitat... ORPHA:525731
Holocarboxylase Synthetase Deficiency
Thrombocytopenia, Weight loss, Hyperammonemia ORPHA:79242
Immunodeficiency 10
Thrombocytopenia, Amelogenesis imperfecta, Autoimmune hemolytic anemia OMIM:612783
Hepatoportal Sclerosis
Leukopenia, Anemia, Hyperbilirubinemia, Splenomegaly, Hypersplenism, Gastrointestinal hemorrhage,... ORPHA:64743
Cardiomyopathy, Familial Hypertrophic, 6
Hypertrophic cardiomyopathy, Sinus bradycardia, Atrial fibrillation, Ventricular preexcitation, A... OMIM:600858
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Gaucher Disease Type 1
Leukopenia, Pulmonary arterial hypertension, Anemia, Splenomegaly, Osteopenia, Hypersplenism, Inc... ORPHA:77259
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia, Increased total bilirubin OMIM:616299
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Neutropenia, Coombs-positive hemolytic anemia, Failure to thrive, Anemia, Autoimmune thrombocytop... OMIM:304790
Cardiac Arrhythmia, Ankyrin-B-Related
Syncope, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Overlap Myositis
Hypertension, Leukopenia, Abnormality of connective tissue, Abnormal circulating lipid concentrat... ORPHA:206572
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia OMIM:188025
Neuroleptic Malignant Syndrome
Hyperkalemia, Leukocytosis, Thrombocytosis, Hyponatremia, Hypertension, Hypernatremia, Elevated c... ORPHA:94093
Hermansky-Pudlak Syndrome 9
Thrombocytopenia, Leukopenia OMIM:614171
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Thrombocytopenia, Bradycardia OMIM:617397
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
3-Methylglutaconic Aciduria, Type Viii
Neutropenia, Bradycardia OMIM:617248
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Failure to thrive, Thrombocytopenia OMIM:616577
Thyrocerebroretinal Syndrome
Thrombocytopenia OMIM:274240
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Transaldolase Deficiency
Telangiectasia, Small for gestational age, Failure to thrive, Anemia, Splenomegaly, Hepatosplenom... OMIM:606003
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia, Flexion contracture OMIM:618815
Sepsis In Premature Infants
Leukocytosis, Neutropenia, Small for gestational age, Anemia, Tachycardia, Bradycardia, Splenomeg... ORPHA:90051
Carnitine-Acylcarnitine Translocase Deficiency
Premature ventricular contraction, Elevated circulating creatine kinase concentration, Atrioventr... OMIM:212138
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Generalized aminoaciduria, Failure to thrive, Hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, ... OMIM:251880
Acute Interstitial Pneumonia
Reduced hematocrit, Hypertension, Elevated circulating creatinine concentration, Elevated circula... ORPHA:79126
Congenital Disorder Of Glycosylation, Type Iil
Optic atrophy, Elevated circulating creatine kinase concentration, Failure to thrive, Splenomegal... OMIM:614576
Tufted Angioma
Thrombocytopenia, Anemia ORPHA:1063
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Leukocytosis, Hypertension, Intracranial hemorrhage, Shock, Palpitations, Subconjun... ORPHA:340
Hereditary Amyloidosis With Primary Renal Involvement
Hypertension, Decreased HDL cholesterol concentration, Elevated circulating creatinine concentrat... ORPHA:85450
Schimke Immuno-Osseous Dysplasia
Decreased proportion of naive CD8 T cells, Hypertension, Neutropenia, Hyperlipidemia, Small for g... ORPHA:1830
Mevalonic Aciduria
Fluctuating splenomegaly, Leukocytosis, Failure to thrive in infancy, Optic disc pallor, Normocyt... OMIM:610377
Platelet Disorder, Undefined
Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Retinal degeneration, Ventricular escape rhythm, Bradycardia, Prolonged PR interval, Sick sinus s... ORPHA:542306
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired platelet aggregation OMIM:617443
Von Willebrand Disease, Type 3
Thrombocytopenia, Joint hemorrhage, Epistaxis, Impaired platelet aggregation OMIM:277480
Acute Promyelocytic Leukemia
Leukocytosis, Neutropenia, Leukopenia, Weight loss, Epistaxis, Anemia, Pancytopenia, Thrombocytop... ORPHA:520
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hyperhomocystinemia, Hypomethioninemia, Neutropenia, Cystathioninuria, Methylmalonic acidemia, Cy... OMIM:277400
Portal Hypertension, Noncirrhotic, 2
Portal hypertension, Thrombocytopenia, Epistaxis, Splenomegaly OMIM:619463
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia, Hyperalaninemia OMIM:614654
Nephronophthisis 2
Hyperkalemia, Hypertension, Elevated circulating creatinine concentration, Pulmonary insufficiency OMIM:602088
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Bradycardia OMIM:616276
Mucopolysaccharidosis-Plus Syndrome
Hypertrophic cardiomyopathy, Optic atrophy, Neutropenia, Leukopenia, Anemia, Splenomegaly, Conges... OMIM:617303
Lysinuric Protein Intolerance
Leukopenia, Failure to thrive, Osteoporosis, Anemia, Pulmonary hemorrhage, Truncal obesity, Splen... OMIM:222700
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Leukopenia, Small for gestational age, Elevated circulating creatine kinase concentration, Optic ... OMIM:301056
Wiskott-Aldrich Syndrome
Neutropenia, Abnormal platelet function, Hypoplasia of the thymus, Chronic leukemia, Recurrent in... ORPHA:906
Mirage Syndrome
Hyperkalemia, Hyponatremia, Intracranial hemorrhage, Radial club hand, Leukopenia, Anemia, Lympho... OMIM:617053
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
B lymphocytopenia, Neutropenia, Noncompaction cardiomyopathy, Leukopenia, Panniculitis, Anemia, T... ORPHA:508542
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Intermittent thrombocytopenia, Splenomegaly OMIM:150550
Congenital Erythropoietic Porphyria
Reduced haptoglobin level, Scarring, Unconjugated hyperbilirubinemia, Erythroid hyperplasia, Leuk... ORPHA:79277
Congenital Disorder Of Glycosylation, Type Iit
Iron deficiency anemia, Hypotriglyceridemia, Decreased HDL cholesterol concentration, Decreased s... OMIM:618885
Cog4-Cdg
Hypercholesterolemia, Thrombocytopenia, Hepatosplenomegaly, Failure to thrive in infancy ORPHA:263501
Catastrophic Antiphospholipid Syndrome
Myocarditis, Microangiopathic hemolytic anemia, Coombs-positive hemolytic anemia, Pulmonary arter... ORPHA:464343
Shwachman-Diamond Syndrome 1
Irregular ossification at anterior rib ends, Neutropenia, Small for gestational age, Failure to t... OMIM:260400
Long Qt Syndrome 9
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia OMIM:611818
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Hyperammonemia, Capillary leak, Hyperamylasemia, Pericardi... ORPHA:99826
Multiple Myeloma
Hyperproteinemia, Hypercalcemia, Elevated circulating creatinine concentration, Weight loss, Anem... ORPHA:29073
Beemer-Ertbruggen Syndrome
Thrombocytopenia, Increased bone mineral density ORPHA:1237
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia, Epistaxis OMIM:273900
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Hypertension, Elevated circulating creatinine concentration, Anemia, Hyperuricemia, Hypotension OMIM:174000
Wilson Disease
Failure to thrive, Weight loss, Anemia, Splenomegaly, Thrombocytopenia, Increased body weight ORPHA:905
Hereditary Folate Malabsorption
Failure to thrive, Megaloblastic anemia, Pancytopenia, Thrombocytopenia, Eosinophilia ORPHA:90045
Vexas Syndrome
Macrocytic anemia, Elevated circulating C-reactive protein concentration, Arteritis, Thrombocytop... OMIM:301054
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Optic atrophy, Hyperhomocystinemia, Hypomethioninemia, Neutropenia, Retin... ORPHA:79282
Sea-Blue Histiocytosis
Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly ORPHA:158029
Prolidase Deficiency
Diffuse telangiectasia, Failure to thrive, Anemia, Splenomegaly, Thrombocytopenia OMIM:170100
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Failure to thrive, Decreased proportion of CD3-positive T cells, Hepatospl... ORPHA:331206
Griscelli Syndrome
Leukopenia, Abnormal circulating lipid concentration, Splenomegaly, Thrombocytopenia, Abnormality... ORPHA:381
Zika Virus Disease
Macular atrophy, Lens subluxation, Abnormality of the optic disc, Retinal pigment epithelial mott... ORPHA:448237
Tropical Endomyocardial Fibrosis
Splenomegaly, Abnormal EKG, Eosinophilia, Abnormal P wave, Reduced ejection fraction, Mitral regu... ORPHA:75565
Glutamine Deficiency, Congenital
Bradycardia, Hyperammonemia, Hypoglutaminemia, Flexion contracture, Camptodactyly OMIM:610015
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypertrophic cardiomyopathy, Optic atrophy, Abnormality of retinal pigmentation, Leukopenia, Mitr... ORPHA:505248
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Portal hypertension, Failure to thrive in infancy, Anemia, Pulmonary hemorrhage, Hepatosplenomega... ORPHA:79124
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hypertrophic cardiomyopathy, Thrombocytopenia, Congestive heart failure, Dilated cardiomyopathy OMIM:611126
Hemophagocytic Syndrome Associated With An Infection
Hyperproteinemia, Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration... ORPHA:158048
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Delayed epiphyseal ossification, Bradycardia, Large for gestational age, Absent ossification of c... ORPHA:226313
Sudden Cardiac Failure, Infantile
Hypertrophic cardiomyopathy, Congestive heart failure, Bradycardia, Myocarditis OMIM:617222
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypertension, Elevated circulating creatinine concentration OMIM:613095
Familial Hemophagocytic Lymphohistiocytosis
Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglycerid... ORPHA:540
Lysinuric Protein Intolerance
Hyperglycinemia, Hyperammonemia, Increased circulating ferritin concentration, Hepatosplenomegaly... ORPHA:470
Smith-Kingsmore Syndrome
Thrombocytopenia, Umbilical hernia, Large for gestational age OMIM:616638
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Thrombocytopenia, Hypochromic microcytic anemia, Increased circulating ferritin concentration ORPHA:3240
Yellow Fever
Shock, Leukocytosis, Reduced ejection fraction, Elevated circulating creatine kinase concentratio... ORPHA:99829
Familial Thyroid Dyshormonogenesis
Delayed proximal femoral epiphyseal ossification, Neonatal hyperbilirubinemia, Abnormal circulati... ORPHA:95716
Paroxysmal Nocturnal Hemoglobinuria
Reduced haptoglobin level, Hypertension, Unconjugated hyperbilirubinemia, Leukopenia, Erythroid h... ORPHA:447
Igg4-Related Retroperitoneal Fibrosis
Hypertension, Normocytic anemia, Budd-Chiari syndrome, Renovascular hypertension, Elevated circul... ORPHA:49041
Wild Type Attr Amyloidosis
Hypertrophic cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Weight loss, B... ORPHA:330001
Chediak-Higashi Syndrome
Neutropenia, Leukopenia, Abnormal dense granules, Giant neutrophil granules, Anemia, Splenomegaly... OMIM:214500
Oligomeganephronia
Hypertension, Small for gestational age, Congenital diaphragmatic hernia, Elevated circulating cr... ORPHA:2260
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Illum Syndrome
Calcinosis, Bradycardia, Arthrogryposis multiplex congenita OMIM:208155
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration, Inguinal hernia OMIM:614376
Chédiak-Higashi Syndrome
Abnormal natural killer cell morphology, Abnormality of retinal pigmentation, Hyponatremia, Neutr... ORPHA:167
Avian Influenza
Leukopenia, Elevated circulating creatine kinase concentration, Lymphopenia, Congestive heart fai... ORPHA:454836
Letterer-Siwe Disease
Anemia, Thrombocytopenia, Hepatosplenomegaly, Neutropenia OMIM:246400
Boutonneuse Fever
Thrombocytopenia, Vasculitis, Leukopenia ORPHA:83313
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Fa... OMIM:614700
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hypocalcification of dental enamel, Amelogenesis imperfecta, Splenomegaly, Thrombocytopenia, Hemo... ORPHA:169090
Porphyria, Congenital Erythropoietic
Corneal scarring, Joint contracture of the hand, Splenomegaly, Osteopenia, Atypical scarring of s... OMIM:263700
Cyclic Neutropenia
Lymphopenia, Cyclic neutropenia, Thrombocytopenia, Cellulitis, Decreased eosinophil count ORPHA:2686
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Hypertension, Orthostatic hypotension, Elevated circulating creatinine concentration, Tachycardia... OMIM:223900
Hermansky-Pudlak Syndrome 5
Thrombocytopenia, Epistaxis OMIM:614074
Hellp Syndrome
Cerebral hemorrhage, Microangiopathic hemolytic anemia, Increased body weight, Internal hemorrhag... ORPHA:244242
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Failure to thrive, Atrioventricular block, Bradycardia, Joint contracture of the 5th finger OMIM:614407
Cryoglobulinemia, Familial Mixed