Gene Summary

Name:
protein kinase, cGMP-dependent, type I
Synonyms:
Prkg1b,  Prkgr1b

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
enlarged spleen Prkg1tm1b(KOMP)Wtsi HOM Early adult 0.00
increased startle reflex Prkg1tm1b(KOMP)Wtsi HET Early adult 3.69×10-07
preweaning lethality, incomplete penetrance Prkg1tm1b(KOMP)Wtsi HOM   Early adult 0.00
enlarged heart Prkg1tm1b(KOMP)Wtsi HET Early adult 0.00
abnormal duodenum morphology Prkg1tm1b(KOMP)Wtsi HOM Early adult 0.00

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 100% (2 of 2)
Aorta  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Cartilage tissue  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 50% (1 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Stomach  Wholemount images heterozygote 50% (1 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thyroid gland  Wholemount images heterozygote Ambiguous
Trachea  Wholemount images heterozygote 100% (2 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
Vascular system  Wholemount images heterozygote 100% (2 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 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)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
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)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 50% (1 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)
Thymus N/A heterozygote 0.0% (0 of 2)
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 100% (1 of 1)
Brain N/A homozygote 100% (1 of 1)
Ear N/A heterozygote Not available
Ear N/A homozygote Not available
Embryo N/A heterozygote 100% (1 of 1)
Embryo N/A homozygote 100% (1 of 1)
Eye N/A heterozygote Not available
Eye N/A homozygote 100% (1 of 1)
Footplate N/A heterozygote 0.0% (0 of 1)
Footplate N/A homozygote 0.0% (0 of 1)
Forebrain N/A heterozygote 100% (1 of 1)
Forebrain N/A homozygote 100% (1 of 1)
Forelimb N/A heterozygote 0.0% (0 of 1)
Forelimb 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 100% (1 of 1)
Head N/A homozygote 100% (1 of 1)
Heart N/A heterozygote Not available
Heart N/A homozygote Not available
Hindbrain N/A heterozygote 100% (1 of 1)
Hindbrain N/A homozygote 100% (1 of 1)
Hindlimb N/A heterozygote 0.0% (0 of 1)
Hindlimb N/A homozygote 0.0% (0 of 1)
Liver N/A heterozygote Not available
Liver N/A homozygote Not available
Lung N/A heterozygote Not available
Lung N/A homozygote Not available
Mandibular process N/A heterozygote Not available
Mandibular process N/A homozygote Not available
Maxillary process N/A heterozygote Not available
Maxillary process N/A homozygote Not available
Midbrain N/A heterozygote 0.0% (0 of 1)
Midbrain N/A homozygote 100% (1 of 1)
Oral cavity N/A heterozygote Not available
Oral cavity N/A homozygote Not available
Skin N/A heterozygote Not available
Skin N/A homozygote Not available
Tail somite N/A heterozygote Not available
Tail somite N/A homozygote 100% (1 of 1)
Tail N/A heterozygote 0.0% (0 of 1)
Tail N/A homozygote 100% (1 of 1)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
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 0.0%
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
oral cavity 0.0%
skin 0.0%
tail 0.0%
tail somite group 0.0%

Associated Images

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

Adult LacZ

LacZ Images Wholemount

12 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

18 Images

X-ray

XRay Images Whole Body Dorso Ventral

15 Images

Echo

M-Mode Images

24 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

MicroCT E18.5

Embryo reconstruction

4 Images

Human diseases caused by Prkg1 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 Prkg1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Ischemic stroke, High, narrow palate, Aortic regurgitation, Hypertension, Transient ischemic atta... ORPHA:91387
Aortic Aneurysm, Familial Thoracic 8
OMIM:615436

The table below shows human diseases predicted to be associated to Prkg1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypertension, Essential
Elevated systolic blood pressure, Elevated mean arterial pressure, Elevated diastolic blood pressure OMIM:145500
Intracranial Hypertension, Idiopathic
Hypertension OMIM:243200
Abdominal Obesity-Metabolic Syndrome 1
Hypertension OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension OMIM:605572
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
Diamond-Blackfan Anemia-Like
Pure red cell aplasia, Steroid-responsive anemia OMIM:617911
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid... OMIM:237800
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice, Anemia, Reticulocytosis, Methemoglobinemia OMIM:613977
Anemia, Congenital Dyserythropoietic, Type Ib
Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,... OMIM:615631
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Hypochromia, Anemia, Decreased mean corpuscular volume OMIM:205950
Ethanolaminosis
Cardiomegaly OMIM:227150
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension OMIM:166990
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Pheochromocytoma/Paraganglioma Syndrome 6
Hypertension OMIM:618464
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,... OMIM:616689
Coronary Artery Disease, Autosomal Dominant, 1
Hypertension, Myocardial infarction OMIM:608320
Paramyotonia Congenita Of Von Eulenburg
Handgrip myotonia, Facial muscle hypertrophy, Percussion myotonia, Myotonia of the upper limb, Co... ORPHA:684
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Reduced erythrocyte gamma-glutamyl cysteine synthetase activity, Hemolytic anemia, Reticulocytosis OMIM:230450
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Polycystic Kidney Disease 7
Hypertension OMIM:620056
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Epilepsy With Bilateral Occipital Calcifications
Celiac disease OMIM:226810
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis... OMIM:616860
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Epistaxis, Sple... OMIM:314050
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Epistaxis, Thrombocyto... OMIM:616216
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno... ORPHA:3203
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Increased RBC distribution width, Megaloblastic anemia, Megalo... OMIM:261000
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Preeclampsia/Eclampsia 1
Hypertension OMIM:189800
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, Type I diabetes mellitus, T-cell acute lymphoblastic leukemias... OMIM:620044
Melorheostosis With Osteopoikilosis
Hypertension ORPHA:1879
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula... ORPHA:3202
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly OMIM:224100
Glutamate-Cysteine Ligase Deficiency
Jaundice, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis ORPHA:33574
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Cardiomyopathy, Familial Hypertrophic, 30, Atrial
Atrial fibrillation, Atrial flutter, Hypertension, Reduced left ventricular ejection fraction OMIM:620734
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis OMIM:603529
Hyperaldosteronism, Familial, Type Iv
Hypertension OMIM:617027
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic... ORPHA:67044
Familial Pseudohyperkalemia
Increased mean corpuscular volume, Hypertension, Reticulocytosis, Episodic hemolytic anemia, Stom... ORPHA:90044
Jejunal Atresia
Abnormal abdomen morphology, Jejunal atresia OMIM:243600
Overhydrated Hereditary Stomatocytosis
Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja... OMIM:185000
Brachydactyly-Arterial Hypertension Syndrome
Hypertension ORPHA:1276
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Anemia, Hepatomegaly, Anemia of inadequate production, Hypertrophic cardiomyo... OMIM:613673
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Supravalvular Aortic Stenosis
Angina pectoris, Hypertension, Systolic heart murmur, Arrhythmia, Syncope, Supravalvular aortic s... ORPHA:3193
Myotonia Congenita, Autosomal Recessive
Skeletal muscle hypertrophy, Percussion myotonia, Myotonia with warm-up phenomenon, EMG: myotonic... OMIM:255700
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ... ORPHA:86841
Spastic Paraplegia-Nephritis-Deafness Syndrome
Hypertension ORPHA:2820
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Nail-Patella-Like Renal Disease
Hypertension ORPHA:2613
Spherocytosis, Type 5
Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia... OMIM:612690
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Hypothyroidism, Bone marr... OMIM:618849
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612126
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2
Lacunar stroke, Hypertension, Transient ischemic attack OMIM:616779
Hypertension And Brachydactyly Syndrome
Hypertension OMIM:112410
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612563
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:300946
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Anemia ORPHA:2802
Alpha-Thalassemia
Anisopoikilocytosis, Congestive heart failure, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis... ORPHA:846
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Thrombotic Thrombocytopenic Purpura
Diarrhea, Reticulocytosis, Arrhythmia, Thrombocytopenia, Microangiopathic hemolytic anemia, Myoca... ORPHA:54057
Cystic Hamartoma Of Lung And Kidney
Hypertension ORPHA:2111
Trimethylaminuria
Anemia, Hypertension, Splenomegaly, Tachycardia, Neutropenia OMIM:602079
Iga Nephropathy, Susceptibility To, 3
Hypertension OMIM:616818
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia... OMIM:235700
Focal Segmental Glomerulosclerosis 5
Hypertension OMIM:613237
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Percussion myotonia, Rimmed vacuoles, Skeletal muscle fibrosis, Myofibrillar myopathy, Increased ... ORPHA:34516
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Melena, Increased mean corpuscular volume, Poikilocytosis, Anisocytosis, Abnormal erythro... ORPHA:98870
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R... OMIM:224120
Myotonia Congenita, Autosomal Dominant
Handgrip myotonia, Skeletal muscle hypertrophy, Percussion myotonia, Myotonia with warm-up phenom... OMIM:160800
Harderoporphyria
Hepatomegaly, Reticulocytosis, Vomiting, Prolonged neonatal jaundice, Splenomegaly, Hemolytic anemia OMIM:618892
Iga Nephropathy, Susceptibility To, 2
Hypertension OMIM:613944
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hypertension OMIM:607832
Polycythemia Vera
Gastrointestinal hemorrhage, Increased red blood cell mass, Budd-Chiari syndrome, Cerebral ischem... OMIM:263300
Cryohydrocytosis
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:185020
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Anemia, Increased mean corpuscular volume, Hypertension, Ascites, Pulmonary arterial hypertension... OMIM:617021
Focal Segmental Glomerulosclerosis 2
Hypertension OMIM:603965
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Reticuloendotheliosis, X-Linked
Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly OMIM:312500
Coronary Artery Disease, Autosomal Dominant 2
Hypertension, Sudden cardiac death, Myocardial infarction OMIM:610947
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Anisocytosis, Hypochromic microcytic anemia OMIM:206200
Moyamoya Disease 6 With Or Without Achalasia
Ischemic stroke, Hypertension, Impotence, Dysphagia, Raynaud phenomenon, Achalasia OMIM:615750
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Erythrocytosis, Familial, 1
Myocardial infarction, Increased red blood cell mass, Hypertension, Increased circulating hemoglo... OMIM:133100
Myotonic Dystrophy 1
Atrial flutter, Atrial fibrillation, Facial diplegia, Myotonia, Dysphagia, Hypogonadism, First de... OMIM:160900
Spherocytosis, Type 4
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612653
Spherocytosis, Type 2
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia OMIM:616649
Diamond-Blackfan Anemia 13
Normocytic anemia, Elevated red cell adenosine deaminase activity OMIM:615909
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Anemia OMIM:611283
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, EMG: myopathic abnormalities, Weakness of the intrinsic hand muscl... ORPHA:488650
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Intestinal malrotation, Abnormal intestine morphology ORPHA:2978
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia OMIM:618310
Sickle Cell Anemia
Ischemic stroke, Chronic hemolytic anemia, Jaundice, Iron deficiency anemia, Cholelithiasis, Incr... ORPHA:232
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Reduced erythrocyte adenosine triphosphate concentration, Reticulocytosis, Erythroid hyperplasia,... OMIM:301083
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Hypertension, Telangiectases producing 'marbled' skin OMIM:206570
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Hepatomegaly, Choleli... OMIM:266200
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Ulcerative colitis, Bloody diarrhea, Anemia, Leukocytosis OMIM:619398
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated hepatic iron co... OMIM:615234
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Pyloric stenosis, Arthrogryposis multiplex congenita, Pulmonic stenosis, Camptodactyly OMIM:614262
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Impaired platelet aggregation, Poikilocytosis, Bone marrow hypocellularity, El... OMIM:300835
Spherocytosis, Type 1
Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:182900
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly OMIM:611490
Periventricular Nodular Heterotopia
Pyloric stenosis, Aortic regurgitation, Gastroesophageal reflux ORPHA:98892
Anemia, Hypochromic Microcytic, With Iron Overload 1
Anemia, Hypochromia, Elevated hepatic iron concentration, Decreased mean corpuscular volume, Eryt... OMIM:206100
Renal Failure, Progressive, With Hypertension
Hypertension OMIM:161900
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, ST segment elevation, Hypertension, Prolonged PR interval OMIM:615378
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol... OMIM:300908
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hyperaldosteronism, Familial, Type Ii
Hypertension OMIM:605635
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Jaundice, Hepatomegaly, Pancytopenia, Increased mean corpuscular volume, Megaloblastic anemia, Th... OMIM:613839
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Arrhythmia, Pulmonary embolism ORPHA:1345
Glomerulopathy With Fibronectin Deposits 2
Hypertension OMIM:601894
Majeed Syndrome
Delayed puberty, Anemia of inadequate production, Hepatosplenomegaly, Decreased mean corpuscular ... OMIM:609628
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis, Projectile vomiting OMIM:179010
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Mitral regurgitation, Macrocytic ... OMIM:612561
Dominant Beta-Thalassemia
Delayed puberty, Splenomegaly, Decreased mean corpuscular volume, Adrenal insufficiency, High-out... ORPHA:231226
Rh-Null, Amorph Type
Stomatocytosis, Anisocytosis, Hemolytic anemia, Reticulocytosis OMIM:617970
Moyamoya Disease With Early-Onset Achalasia
Hypertension, Raynaud phenomenon ORPHA:401945
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Congenital Atransferrinemia
Hypothyroidism, Anemia, Abnormality of the pancreas ORPHA:1195
Rh Deficiency Syndrome
Jaundice, Macrocytic anemia, Hypochromia, Spherocytosis, Reticulocytosis, Anisocytosis, Hepatospl... ORPHA:71275
Immunodeficiency 96
Defective T cell proliferation, Decreased circulating total IgM, Increased mean corpuscular volum... OMIM:619774
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Decreased mean corpuscular volume, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis OMIM:611590
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Phosphoglycerate Kinase 1 Deficiency
Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis OMIM:300653
Myofibrillar Myopathy 10
Ankle flexion contracture, Knee flexion contracture, Prolonged QTc interval, Percussion myotonia,... OMIM:619040
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c... ORPHA:35858
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... OMIM:133180
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r... OMIM:620367
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Muscle fiber splitting, Lower limb amyotrophy, Ragged-red muscle fibers, Rimmed vacuoles, Upper l... OMIM:616924
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Hypertension OMIM:605115
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr... OMIM:194380
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Increased circulating antibody level, Chronic diarrhea, Th... OMIM:615285
Erythrocytosis, Familial, 4
Elevated circulating erythropoietin concentration, Polycythemia, Increased circulating hemoglobin... OMIM:611783
Glomerulopathy With Fibronectin Deposits 1
Hypertension OMIM:137950
Polycystic Kidney Disease 5
Hypertension OMIM:617610
Erythrocytosis, Familial, 5
Elevated circulating erythropoietin concentration, Polycythemia, Increased circulating hemoglobin... OMIM:617907
Liddle Syndrome
Hypertension, Cerebral ischemia, Arrhythmia ORPHA:526
Hereditary Spherocytosis
Jaundice, Anemia, Hepatomegaly, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp... ORPHA:822
Iga Nephropathy, Susceptibility To, 1
Hypertension OMIM:161950
Rippling Muscle Disease 1
Skeletal muscle hypertrophy, Percussion-induced rapid rolling muscle contractions, Muscle mounding OMIM:600332
Lessel-Kubisch Syndrome
Hypertension OMIM:618681
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior... ORPHA:98855
Myotonic Dystrophy 2
Handgrip myotonia, Right bundle branch block, Oligozoospermia, Premature ventricular contraction,... OMIM:602668
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Hypertension, Vomiting, Abnor... ORPHA:2169
Coproporphyria, Hereditary
Diarrhea, Hypertension, Increased fecal coproporphyrin III:coproporphyrin I ratio, Vomiting, Cons... OMIM:121300
Congenital-Onset Steinert Myotonic Dystrophy
Encopresis, Gastroesophageal reflux, Facial hypotonia, Diarrhea, Constipation, Myotonia, Dysphagi... ORPHA:589821
Emery-Dreifuss Muscular Dystrophy
Myotonia, Limb-girdle muscular dystrophy, Myopathy, Proximal muscle weakness in lower limbs, Prox... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Myotonia, Limb-girdle muscular dystrophy, Myopathy, Proximal muscle weakness in lower limbs, Prox... ORPHA:98853
Brody Disease
Skeletal muscle hypertrophy, Percussion myotonia, Flexion contracture, Myotonia OMIM:601003
Beta-Thalassemia Intermedia
Anemia of inadequate production, Splenomegaly, Hypogonadism, Decreased mean corpuscular volume, A... ORPHA:231222
Pseudohypoaldosteronism, Type Iia
Hypertension OMIM:145260
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Left ventricular systolic dysfunction, Calf muscle pseudohypertrophy, Calf muscle hypertrophy, Sc... ORPHA:353
Acetazolamide-Responsive Myotonia
Skeletal muscle hypertrophy, Myotonia, Dysphagia ORPHA:99736
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly OMIM:206400
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Ankle flexion contracture, Weakness of facial musculature, Elbow flexion contracture, Pyloric ste... OMIM:619461
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Lower limb amyotrophy, Calf muscle hypertrophy, Cardiomyopathy, Wrist flexion contracture, Upper ... ORPHA:206549
Rippling Muscle Disease 2
Skeletal muscle hypertrophy, Percussion-induced rapid rolling muscle contractions, Muscle moundin... OMIM:606072
Paramyotonia Congenita
Paradoxical myotonia, Percussion myotonia, Handgrip myotonia, Skeletal muscle hypertrophy OMIM:168300
Beta-Thalassemia
Hepatomegaly, Anemia, Cholelithiasis, Hypertrophic cardiomyopathy, Thrombocytopenia, Abnormal hem... ORPHA:848
Moyamoya Disease 1
Inflammatory arteriopathy, Telangiectasia OMIM:252350
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior... ORPHA:98863
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Grange Syndrome
Hypertension, Aortic regurgitation ORPHA:79094
Acquired Idiopathic Sideroblastic Anemia
Congestive heart failure, Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic a... ORPHA:75564
Immunodeficiency 69
Anemia, Hemophagocytosis, Pancytopenia, Diarrhea, Leukocytosis, Hepatosplenomegaly, Splenomegaly,... OMIM:618963
Lipodystrophy, Congenital Generalized, Type 4
Muscular dystrophy, Muscle mounding, Prolonged QT interval, Bradycardia, Atrial fibrillation, Ske... OMIM:613327
Elliptocytosis 2
Elliptocytosis, Hemolytic anemia, Reticulocytosis OMIM:130600
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope... ORPHA:444463
Myopathy, X-Linked, With Excessive Autophagy
Muscle fiber necrosis, Skeletal muscle autophagosome accumulation, Skeletal muscle atrophy, Myoto... OMIM:310440
Chromosome 5Q Deletion Syndrome
Anemia of inadequate production, Erythroid hypoplasia, Refractory macrocytic anemia OMIM:153550
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Granulocytopenia OMIM:608898
Diamond-Blackfan Anemia 16
Pulmonic stenosis, Anemia OMIM:617408
Nephronophthisis
Anemia ORPHA:655
Refractory Anemia
Normocytic anemia, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemia, Abnormal cardiac... ORPHA:98826
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Congenital shortened small intestine, Intestinal malrotation, Pylo... OMIM:300048
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies OMIM:140700
Sitosterolemia 1
Chronic hemolytic anemia, Giant platelets, Anemia, Impaired platelet aggregation, Episodic hemoly... OMIM:210250
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Anemia, Reticulocytopenia, Abnormality of the hypothalamus-pituitary axis, H... ORPHA:300298
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Hepatomegaly, Anemia, Pericarditis, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Morbid Obesity And Spermatogenic Failure
Congestive heart failure, Hypertension, Myocardial infarction OMIM:615703
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Zebra Body Myopathy
Muscle fiber splitting, Handgrip myotonia, Torticollis, Rimmed vacuoles, Autophagic vacuoles, EMG... ORPHA:97240
Erythrocytosis, Familial, 2
Increased red blood cell mass, Hypotension, Pulmonary arterial hypertension, Increased circulatin... OMIM:263400
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemia... OMIM:258900
Myotonia, Potassium-Aggravated
Handgrip myotonia, Skeletal muscle hypertrophy, Percussion myotonia, Myotonia, Skeletal muscle at... OMIM:608390
Ganglioneuroma
Gastrointestinal hemorrhage, Colorectal polyposis, Multiple intestinal neurofibromatosis, Hyperte... ORPHA:251992
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia, Ascites, Hypertrophic cardiomyopathy ORPHA:295
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Distal lower limb muscle weakness, Handgrip myotonia, Weakness of long finger extensor muscles, W... ORPHA:324442
Hereditary Elliptocytosis
Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal jaundice, Elliptocy... ORPHA:288
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Retinal hemorrhage, Abnorm... ORPHA:86839
Portal Hypertension, Noncirrhotic, 1
Esophageal varix, Splenomegaly, Portal hypertension, Hepatomegaly OMIM:617068
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertension ORPHA:71529
Hemochromatosis, Type 2B
Congestive heart failure, Cirrhosis, Hepatomegaly, Anemia, Cardiomyopathy, Splenomegaly, Hypogona... OMIM:613313
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Thrombocytopenia, Epistaxis, Anemia OMIM:616176
Hydrops Fetalis, Nonimmune
Congestive heart failure, Anemia OMIM:236750
Fg Syndrome 3
Pyloric stenosis, Joint contracture, Chronic constipation OMIM:300406
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Cardiomyopathy, Arrhythmia ORPHA:3222
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:300448
Myotonia Permanens
Skeletal muscle hypertrophy, Generalized muscle hypertrophy, Myotonia, Dysphagia ORPHA:99735
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Reduced erythrocyte adenylate kinase activity, Hemolytic anemia OMIM:612631
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis ORPHA:713
Hyperkalemic Periodic Paralysis
Congestive heart failure, Skeletal muscle hypertrophy, Bowel incontinence, Skeletal muscle atroph... ORPHA:682
Beta-Thalassemia Major
Delayed puberty, Anemia of inadequate production, Splenomegaly, Decreased mean corpuscular volume... ORPHA:231214
Mantle Cell Lymphoma
Splenomegaly, Abnormality of the gastrointestinal tract, Lymphadenopathy ORPHA:52416
Familial Cervical Artery Dissection
Hypertension, Transient ischemic attack, Cerebral ischemia, Recurrent cerebral hemorrhage, Subara... ORPHA:36382
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Denys-Drash Syndrome
Hypertension ORPHA:220
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Diarrhea, Hypertension, Reticulocytosis, Thrombocytopenia, Microangiopathic hemolytic anemia, Sch... OMIM:235400
Richieri Costa-Da Silva Syndrome
Distal lower limb muscle weakness, Handgrip myotonia, Asymmetric limb muscle stiffness, Myotonia ... ORPHA:3101
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia
Myotonia, Skeletal muscle atrophy OMIM:254950
Familial Cylindromatosis
Telangiectasia of the skin ORPHA:211
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ... OMIM:616959
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Muscular Dystrophy, Barnes Type
Muscular dystrophy, Myotonia, Myopathy OMIM:158800
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Increased muscle glycogen content, Myotonia, Skeletal muscle atrophy ORPHA:371
Glycogen Storage Disease Vii
Jaundice, Cholelithiasis, Reticulocytosis, Reduced erythrocyte 2,3-diphosphoglycerate concentrati... OMIM:232800
Thrombocytopenia, Paris-Trousseau Type
Pyloric stenosis OMIM:188025
Eosinophilia, Familial
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis OMIM:131400
Alpha-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly, Abnormal small intestine morphology ORPHA:100025
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis OMIM:266120
Duodenal Atresia
Duodenal atresia OMIM:223400
Thrombotic Thrombocytopenic Purpura, Hereditary
Jaundice, Transient ischemic attack, Reticulocytosis, Prolonged neonatal jaundice, Thrombocytopen... OMIM:274150
Hyperaldosteronism, Familial, Type I
Hypertension OMIM:103900
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hypertension OMIM:600666
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Cirrhosis, Anemia, Increased mean corpuscular volume, Budd-Chiari syndrome, Bone... OMIM:127550
Elliptocytosis 3
Pyropoikilocytosis, Chronic hemolytic anemia, Intermittent jaundice, Elliptocytosis, Decreased me... OMIM:617948
Fibronectin Glomerulopathy
Hypertension, Cerebral hemorrhage ORPHA:84090
Pseudohypoaldosteronism Type 2
Hypertension ORPHA:757
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly OMIM:273680
Acute Erythroid Leukemia
Anemia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocellularity, Leukopenia, Monoclonal i... ORPHA:318
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Splenomegaly, Hypersplenism OMIM:183350
Bone Marrow Failure Syndrome 2
Bone marrow hypocellularity, Thrombocytopenia, Anemia, Leukopenia OMIM:615715
Primary Familial Polycythemia
Polycythemia, Epistaxis, Abnormal hemoglobin ORPHA:90042
Ornithine Transcarbamylase Deficiency
Pyloric stenosis ORPHA:664
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia OMIM:618852
Myotonia Fluctuans
Handgrip myotonia, Myotonia of the upper limb, Myotonia with warm-up phenomenon, Spasticity of fa... ORPHA:99734
Epidermolysis Bullosa, Junctional 1B, Severe
Pyloric stenosis OMIM:226700
Myotonia With Skeletal Abnormalities And Mental Retardation
Skeletal muscle hypertrophy, Myotonia, Firm muscles OMIM:255710
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Hepatomegaly, Diarrhea, Microvesicular hepatic steatosis, Leukocytosis,... OMIM:618278
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Pyloric stenosis OMIM:133705
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Increased circulating antibody level, Pancytopenia, Lymphocytosis, Splenomegaly, He... OMIM:614470
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Calf muscle hypertrophy, Upper limb muscle weakness, Proximal amyotrophy, Myotonia, Lower limb mu... ORPHA:209335
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit OMIM:609820
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Hemophagocytosis, Lymphadenopathy, Decreased circulating antibody level, Abnormal natural... OMIM:613101
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Primary Membranoproliferative Glomerulonephritis
Hypertension, Myocardial infarction ORPHA:54370
Arterial Calcification, Generalized, Of Infancy, 2
Congestive heart failure, Reduced left ventricular ejection fraction, Sinus tachycardia, Hyperten... OMIM:614473
Houge-Janssens Syndrome 1
Pyloric stenosis, Chronic diarrhea, Congenital muscular torticollis, Facial hypotonia OMIM:616355
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Pyloric stenosis, High palate ORPHA:314575
Diamond-Blackfan Anemia 12
Reticulocytopenia, Elevated red cell adenosine deaminase activity, Normochromic anemia, Macrocyti... OMIM:615550
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Megaloblastic anemia OMIM:277410
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Increased circulating antibody level, Lymphadenopathy, Splenomegaly, Abnorm... ORPHA:100024
Diamond-Blackfan Anemia 9
Anemia OMIM:613308
Immunodeficiency 52
Defective T cell proliferation, Lymphadenopathy, Abnormal natural killer cell count, Decreased ci... OMIM:617514
Martinez-Frias Syndrome
Annular pancreas, Hypoplasia of the gallbladder, Intestinal hypoplasia, Pancreatic hypoplasia, Tr... OMIM:601346
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Flexion contracture, Congenital pyloric atresia OMIM:612138
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Anisocytosis, Hepatomegaly OMIM:604273
Capillary Malformation-Arteriovenous Malformation 2
Telangiectasia OMIM:618196
Hypokalemic Periodic Paralysis, Type 1
Myotonia, Myopathy OMIM:170400
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Congestive heart failure, Wolff-Parkinson-White syndrome, Episodic vomiting, Ragged-red muscle fi... OMIM:540000
Tempi Syndrome
Increased circulating IgG level, Ascites, Polycythemia, Intracranial hemorrhage, Increased hemato... ORPHA:284227
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Anemia, Impaired platelet aggregation, Thrombocytopenia, ... OMIM:187800
Hemophagocytic Lymphohistiocytosis, Familial, 4
Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly... OMIM:603552
Pseudohypoaldosteronism, Type Iib
Hypertension OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hypertension OMIM:614495
Bone Marrow Failure Syndrome 3
Aplastic anemia, Hyperechogenic pancreas, Anemia, Acute myeloid leukemia, Pancytopenia, Increased... OMIM:617052
Atransferrinemia
Abnormality of the liver, Congestive heart failure, Hypochromic anemia OMIM:209300
Erythrocytosis, Familial, 7
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617981
Erythrocytosis, Familial, 6
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617980
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Hypertension, Pulmonary arterial hypertension, Right ventricular ... OMIM:178600
Proximal Myotonic Myopathy
Myotonia ORPHA:606
Liddle Syndrome 2
Hypertension OMIM:618114
Liddle Syndrome 3
Hypertension OMIM:618126
Cutis Marmorata Telangiectatica Congenita
Hypertension, Telangiectasia OMIM:219250
Diamond-Blackfan Anemia 4
Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia, Neutropenia OMIM:612527
Schnitzler Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Vasculitis, Leukocytosis, Increased circulating IgM level,... ORPHA:37748
Autoinflammatory Disease, Familial, Behcet-Like 3
Ileitis OMIM:618287
Familial Partial Lipodystrophy, Köbberling Type
Hypertension ORPHA:79084
Visceral Myopathy 2
Intestinal obstruction, Rectal prolapse, Gastroesophageal reflux, Intestinal pseudo-obstruction, ... OMIM:619350
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Hepatomegaly, Iron deficiency anem... OMIM:601859
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Anemia, Hypochromic microcytic anemia, Howell-Jolly bodies, Poikilocytosis, Sideroblastic anemia,... OMIM:301310
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Increased circulating antibody level, Congenital agranulocytosis, Acute m... OMIM:202700
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, Abnormality of the foot muscula... ORPHA:169189
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Pyloric stenosis OMIM:617219
Senior-Loken Syndrome
Hypertension ORPHA:3156
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Decreased circulating antibody level, Abnormal plat... ORPHA:2585
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly OMIM:607616
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia OMIM:619523
Arterial Tortuosity Syndrome
Myocarditis, Congestive heart failure, Myocardial infarction, Gastroesophageal reflux, Hypertensi... ORPHA:3342
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Esophagitis, Macrocytic anemia, Neutropenia OMIM:612562
Gray Platelet Syndrome
Thrombocytopenia, Epistaxis, Splenomegaly ORPHA:721
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Thrombocytopenia, Monocytosis, Anemia, Neutropenia OMIM:620534
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Gastritis, Pancolitis, Abnormal intestine morphology, Esophagitis, Du... OMIM:619079
Episodic Ataxia Type 1
Nausea, Calf muscle hypertrophy, Myotonia ORPHA:37612
Amyloidosis, Familial Visceral
Hypertension OMIM:105200
Acute Myelomonocytic Leukemia
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis ORPHA:517
Glutaric Aciduria Iii
Hypertension OMIM:231690
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Pancreatitis, Acute colitis, Diarrhea, Hypertension, Bloody diarrhea, Leukocytosis, Reticulocytos... ORPHA:90038
Shwachman-Diamond Syndrome
Aplastic anemia, Steatorrhea, Macrocytic anemia, Chronic neutropenia, Bone marrow hypocellularity... ORPHA:811
Idiopathic Aplastic Anemia
Anemia, Pancytopenia, Reticulocytopenia, Retinal hemorrhage, Bone marrow hypocellularity, Epistax... ORPHA:88
Craniofaciofrontodigital Syndrome
Congestive heart failure, Gastrointestinal hemorrhage, Persistent fetal circulation, Gastroesopha... ORPHA:363705
Immunodeficiency 27A
Anemia, Lymphadenopathy, Increased circulating IgG level, Diarrhea, Leukocytosis, Increased circu... OMIM:209950
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Hypokalemic Periodic Paralysis, Type 2
Myotonia OMIM:613345
Thomsen And Becker Disease
Myotonia ORPHA:614
Sneddon Syndrome
Hypertension, Intracranial hemorrhage ORPHA:820
Mungan Syndrome
Intestinal pseudo-obstruction, Gastroparesis, Barrett esophagus, Tricuspid regurgitation, Pulmoni... OMIM:611376
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypersplenism OMIM:610539
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia, Dysphagia, Dilated cardiomyopathy, Mitral re... ORPHA:261250
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Immunodeficiency 46
Anemia, Chronic diarrhea, Decreased circulating antibody level, Intermittent thrombocytopenia, Ne... OMIM:616740
Autoimmune Lymphoproliferative Syndrome
Increased circulating antibody level, Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity... ORPHA:3261
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Spherocytosis, Splenomegaly ORPHA:66518
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Anemia, Leukemia, Neutropenia OMIM:614082
Central Hypoventilation Syndrome, Congenital, 3
Episodic hypertension OMIM:619483
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Hypertension, Mitral regurgitation OMIM:173900
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Increased circulating IgG... OMIM:619220
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Hypertension OMIM:202110
Lipodystrophy, Familial Partial, Type 4
Hypertension OMIM:613877
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Pulmonary embolism, Anemia, Cerebral hemorrhage OMIM:614514
Liddle Syndrome 1
Hypertension OMIM:177200
Castleman Disease
Intestinal obstruction, Jaundice, Anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Restricti... ORPHA:160
Immunodeficiency 104
Hepatomegaly, Lymphadenopathy, Gastroesophageal reflux, Diarrhea, T lymphocytopenia, Splenomegaly OMIM:608971
Myopathy, Centronuclear, X-Linked
Facial palsy, High palate, Pyloric stenosis, Flexion contracture, Diaphragmatic eventration OMIM:310400
Trisomy 18P
Pyloric stenosis, High, narrow palate, Facial palsy ORPHA:1715
Focal Segmental Glomerulosclerosis 1
Hypertension OMIM:603278
Fg Syndrome Type 1
Gastroesophageal reflux, High palate, Anal atresia, Abnormal large intestine morphology, Pyloric ... ORPHA:93932
Transaldolase Deficiency
Cirrhosis, Anemia, Thrombocytopenia, Hepatosplenomegaly, Telangiectasia ORPHA:101028
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Ziegler-Huang Syndrome
Macrocytic anemia, Anterior pituitary hypoplasia, Persistence of hemoglobin F, Bone marrow hypoce... OMIM:620501
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Aicardi-Goutieres Syndrome 6
Hepatomegaly, Thrombocytopenia, Splenomegaly, Hemolytic anemia OMIM:615010
Nephronophthisis 18
Hypertension OMIM:615862
Inflammatory Skin And Bowel Disease, Neonatal, 2
Hypertension OMIM:616069
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Premature ovarian insufficiency, Myotonia ORPHA:391307
Hemochromatosis, Type 4
Cirrhosis, Hepatomegaly, Anemia, Cardiomyopathy, Arrhythmia, Diabetes mellitus, Hepatic steatosis OMIM:606069
Nephrotic Syndrome, Type 1
Pyloric stenosis, Gastroesophageal reflux OMIM:256300
Pseudohypoaldosteronism, Type Iie
Hypertension OMIM:614496
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Decreased circulating total IgM, Hepatomegaly, Splenomegaly OMIM:606445
Thrombocythemia 1
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Imp... OMIM:187950
Narcolepsy Type 1
Hypertension, Constipation, Male sexual dysfunction, Syncope, Female sexual dysfunction ORPHA:2073
Ulnar-Mammary Syndrome
Aplasia of the pectoralis major muscle, Ectopic anus, Anal atresia, Pyloric stenosis, Camptodacty... ORPHA:3138
Potocki-Shaffer Syndrome
Delayed puberty, Hypertension, Anemia, Hypothyroidism ORPHA:52022
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Postorgasmic Illness Syndrome
Palpitations, Hypertension ORPHA:279947
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Anemia, Lymphadenopathy ORPHA:158014
Trichothiodystrophy 6, Nonphotosensitive
Increased HbA2 hemoglobin, Decreased mean corpuscular volume OMIM:616943
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Hypertension OMIM:618061
3P25.3 Microdeletion Syndrome
High, narrow palate, Pyloric stenosis, Pulmonic stenosis, Cleft palate, Skeletal muscle atrophy, ... ORPHA:435638
Riboflavin Transporter Deficiency
Hypertension, Facial palsy, Limb muscle weakness, Skeletal muscle atrophy, Dysphagia, Hypogonadism ORPHA:97229
Diamond-Blackfan Anemia 5
Leukopenia, Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia OMIM:612528
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Pyloric stenosis, Bifid uvula, High palate, Cleft palate ORPHA:96184
Corticosteroid-Binding Globulin Deficiency
Hypertension, Hypotension OMIM:611489
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Anemia, Abnormal lymph node morphology, Leukocytosis, Epistaxis, Hepatosplenomegaly... OMIM:612840
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytopenia, Thrombocytope... ORPHA:169079
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Tyrosinemia Type 1
Hepatocellular carcinoma, Splenomegaly, Hepatomegaly ORPHA:882
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly OMIM:617441
Telangiectasia, Hereditary Benign
Diffuse telangiectasia OMIM:187260
Plin1-Related Familial Partial Lipodystrophy
Infertility, Calf muscle hypertrophy, Hypertension, Oligomenorrhea ORPHA:280356
Orthostatic Hypotension 2
Anemia, Orthostatic hypotension OMIM:618182
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Decreased circulating IgE, Pancytopenia, B lymphocytopenia, Increased proportion of effec... OMIM:619824
X-Linked Hypohidrotic Ectodermal Dysplasia
Hypertension ORPHA:181
Hyperkalemic Periodic Paralysis
Myotonia OMIM:170500
Malaria
Thrombocytopenia, Anemia ORPHA:673
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypertension OMIM:201910
Craniofacial Dyssynostosis With Short Stature
Pyloric stenosis OMIM:218350
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Splenomegaly, Increased circulating IgG level, Vasculitis, Autoimmun... OMIM:603909
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Splenomegaly, Eosinophilia OMIM:607685
Autoinflammation With Infantile Enterocolitis
Anemia, Episodic vomiting, Pancytopenia, Enterocolitis, Thrombocytopenia, Splenomegaly, Secretory... OMIM:616050
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:615085
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Vasculitis in the skin, Hepatomegaly, Anemia, Splenomegaly OMIM:620296
Babesiosis
Congestive heart failure, Jaundice, Hepatomegaly, Leukopenia, Splenomegaly, Thrombocytopenia, Hem... ORPHA:108
Pituitary Adenoma 1, Multiple Types
Hypertension, Cardiomyopathy OMIM:102200
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Marden-Walker Syndrome
High, narrow palate, High palate, Camptodactyly, Congenital contracture, Pyloric stenosis, Cleft ... OMIM:248700
Kasabach-Merritt Phenomenon
Hepatic hemangioma, Anemia, Abnormal lymphatic vessel morphology, Reticulocytosis, Leukopenia, Th... ORPHA:2330
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Intestinal obstruction, Autoimmune hemolytic anemia, Impaired lymphocyte transform... OMIM:243150
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Pheochromocytoma--Islet Cell Tumor Syndrome
Congestive heart failure, Episodic hypertension, Cerebral hemorrhage, Positive regitine blocking ... OMIM:171420
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Anemia, Splenomegaly, Hyperparathyroidism OMIM:618107
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Reticular Dysgenesis
Anemia, Diarrhea, Decreased circulating antibody level, Leukopenia, Aplasia/Hypoplasia of the thy... ORPHA:33355
Cryoglobulinemia, Familial Mixed
Hypertension OMIM:123550
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Congestive heart failure, Dilated cardiomyopathy, Hypertension, Hypertrophic cardiomyopathy ORPHA:1349
Diamond-Blackfan Anemia
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... ORPHA:124
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Bradycardia, Palpitations, Low-output congestive heart failure, Mildly red... ORPHA:66529
Ataxia-Pancytopenia Syndrome