Gene Summary

Name:
ectonucleoside triphosphate diphosphohydrolase 1
Synonyms:
ectoapyrase,  NTPDase-1,  2610206B08Rik,  Cd39

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased grip strength Entpd1tm1a(EUCOMM)Wtsi HOM Early adult 5.76×10-09
decreased circulating glycerol level Entpd1tm1a(EUCOMM)Wtsi HOM Early adult 1.14×10-05
decreased circulating free fatty acids level Entpd1tm1a(EUCOMM)Wtsi HOM Early adult 2.94×10-05
increased circulating sodium level Entpd1tm1b(EUCOMM)Wtsi HET Early adult 2.20×10-06
increased mean corpuscular hemoglobin concentration Entpd1tm1a(EUCOMM)Wtsi HOM Early adult 2.64×10-06
decreased total body fat amount Entpd1tm1a(EUCOMM)Wtsi HOM Early adult 1.96×10-05
tremors Entpd1tm1a(EUCOMM)Wtsi HOM Early adult 8.05×10-06
increased bone mineral content Entpd1tm1a(EUCOMM)Wtsi HOM Early adult 2.08×10-05
abnormal bone mineralization Entpd1tm1a(EUCOMM)Wtsi HOM Early adult 4.23×10-05
thrombocytopenia Entpd1tm1a(EUCOMM)Wtsi HOM Early adult 9.86×10-06
increased IgE level Entpd1tm1a(EUCOMM)Wtsi HOM Early adult 2.87×10-06
increased circulating chloride level Entpd1tm1b(EUCOMM)Wtsi HET Early adult 9.04×10-06

Download data as:  TSV  XLS

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lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 5)
Aorta N/A heterozygote 0.0% (0 of 5)
Blood N/A heterozygote 0.0% (0 of 5)
Bone marrow N/A heterozygote 0.0% (0 of 5)
Bone N/A heterozygote 0.0% (0 of 5)
Brain N/A heterozygote 20% (1 of 5)
Brainstem N/A heterozygote 0.0% (0 of 5)
Brown adipose tissue N/A heterozygote 0.0% (0 of 5)
Cartilage tissue N/A heterozygote 0.0% (0 of 5)
Cecum N/A heterozygote 0.0% (0 of 5)
Cerebellum N/A heterozygote 0.0% (0 of 5)
Cerebral cortex N/A heterozygote 0.0% (0 of 5)
Chest bone N/A heterozygote 0.0% (0 of 5)
Colon N/A heterozygote 0.0% (0 of 5)
Cranium N/A heterozygote 0.0% (0 of 5)
Diaphragm N/A heterozygote 0.0% (0 of 5)
Epididymis N/A heterozygote Not available
Esophagus N/A heterozygote 0.0% (0 of 5)
Eye N/A heterozygote 0.0% (0 of 5)
Gall bladder N/A heterozygote 0.0% (0 of 5)
Harderian gland N/A heterozygote 0.0% (0 of 5)
Heart N/A heterozygote 40% (2 of 5)
Hindlimb N/A heterozygote 0.0% (0 of 5)
Hippocampus N/A heterozygote 0.0% (0 of 5)
Hypothalamus N/A heterozygote 0.0% (0 of 5)
Kidney N/A heterozygote 20% (1 of 5)
Large intestine N/A heterozygote 0.0% (0 of 5)
Liver N/A heterozygote 0.0% (0 of 5)
Lower urinary tract N/A heterozygote 0.0% (0 of 5)
Lung N/A heterozygote 80% (4 of 5)
Lymph node N/A heterozygote 0.0% (0 of 5)
Main olfactory bulb N/A heterozygote 0.0% (0 of 5)
Mammary gland N/A heterozygote Not available
Mesenteric lymph node N/A heterozygote 0.0% (0 of 5)
Olfactory lobe N/A heterozygote 0.0% (0 of 5)
Oral epithelium N/A heterozygote 0.0% (0 of 5)
Ovary N/A heterozygote Not available
Oviduct N/A heterozygote Not available
Pancreas N/A heterozygote 100% (5 of 5)
Parathyroid gland N/A heterozygote 0.0% (0 of 5)
Parotid gland N/A heterozygote 0.0% (0 of 5)
Penis N/A heterozygote Not available
Peripheral nervous system N/A heterozygote 0.0% (0 of 5)
Peyer's patch N/A heterozygote 0.0% (0 of 5)
Pituitary gland N/A heterozygote 0.0% (0 of 5)
Prostate gland N/A heterozygote Not available
Sciatic nerve N/A heterozygote 0.0% (0 of 5)
Skeletal muscle N/A heterozygote 0.0% (0 of 5)
Skin N/A heterozygote 0.0% (0 of 5)
Small intestine N/A heterozygote 0.0% (0 of 5)
Spinal cord N/A heterozygote 0.0% (0 of 5)
Spleen N/A heterozygote 0.0% (0 of 5)
Stomach pyloric region N/A heterozygote 0.0% (0 of 5)
Stomach N/A heterozygote 40% (2 of 5)
Striatum N/A heterozygote 0.0% (0 of 5)
Sublingual gland N/A heterozygote 20% (1 of 5)
Submandibular gland N/A heterozygote 40% (2 of 5)
Testis N/A heterozygote 20% (1 of 5)
Thymus N/A heterozygote 0.0% (0 of 5)
Thyroid gland N/A heterozygote 0.0% (0 of 5)
Tongue N/A heterozygote 0.0% (0 of 5)
Trachea N/A heterozygote 0.0% (0 of 5)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 5)
Urinary bladder N/A heterozygote 0.0% (0 of 5)
Uterus N/A heterozygote Not available
Vagina N/A heterozygote Not available
Vas deferens N/A heterozygote 0.0% (0 of 5)
Vascular system N/A heterozygote 0.0% (0 of 5)
Vesicular gland N/A heterozygote 20% (1 of 5)
White adipose tissue N/A heterozygote 0.0% (0 of 5)
No Embryo expression data was found for this gene.

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%
blood
bone 0.0%
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
cranium
diaphragm 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
harderian gland
heart 0.0%
hindlimb 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%
main olfactory bulb 0.0%
mammary gland 0.0%
mesenteric lymph node
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Electrocardiogram (ECG)

Waveform Image

52 Images

X-ray

XRay Images Whole Body Lateral Orientation

20 Images

X-ray

XRay Images Whole Body Dorso Ventral

20 Images

Adult LacZ

LacZ Images Wholemount

31 Images

Human diseases caused by Entpd1 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 Entpd1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Autosomal Recessive Spastic Paraplegia Type 64
Spasticity ORPHA:401810
Spastic Paraplegia 64, Autosomal Recessive
Spastic paraplegia, Spasticity OMIM:615683

The table below shows human diseases predicted to be associated to Entpd1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Epistaxis, Giant platelets, Leukocyte inclusion bodies, Prolonged bleeding time, Abnormal bleedin... OMIM:155100
Glanzmann Thrombasthenia 2
Epistaxis, Decreased platelet glycoprotein IIb-IIIa, Abnormal bleeding, Bruising susceptibility, ... OMIM:619267
Glanzmann Thrombasthenia 1
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Decreased platelet glycoprotein IIb-II... OMIM:273800
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... OMIM:619130
Bleeding Disorder, Platelet-Type, 22
Gastrointestinal hemorrhage, Excessive bleeding from superficial cuts, Subcutaneous hemorrhage, I... OMIM:618462
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Platelet Signal Processing Defect
Epistaxis, Abnormal bleeding, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impair... OMIM:173590
Athrombia, Essential
Impaired platelet adhesion, Prolonged bleeding time, Impaired platelet aggregation OMIM:209050
Bleeding Disorder, Platelet-Type, 25
Bruising susceptibility, Excessive bleeding from superficial cuts, Prolonged bleeding after denta... OMIM:620486
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Abnormal bleeding, Impaired arachidonic acid-induced platelet aggregation,... OMIM:619271
Bleeding Disorder, Platelet-Type, 11
Epistaxis, Bruising susceptibility, Ecchymosis, Abnormal platelet count, Impaired ristocetin-indu... OMIM:614201
Bernard-Soulier Syndrome
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Giant platelets, Abnormal bleeding, Pr... OMIM:231200
Bleeding Disorder, Platelet-Type, 18
Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction, Impaired ADP-indu... OMIM:615888
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia, Impaired platelet aggregation, Macrothrombocytopenia, Post-partum hemorrhage, M... OMIM:124900
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce... OMIM:187950
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Abnormal bleeding, Petechiae, Thrombocytopenia, Impaired ... OMIM:187800
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Nodular regenerative hyperplasia of liver, Abnormality of the hepatic vasculature, Elevated circu... ORPHA:210136
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Epistaxis, Bruising susceptibility, Impaired arachidonic acid-induced platelet aggregation, Ecchy... OMIM:614009
Myh9-Related Disease
Nephropathy, Nephritis, Elevated circulating hepatic transaminase concentration, Giant platelets,... ORPHA:182050
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Interstitial Lung Disease 2
Usual interstitial pneumonia, Alveolar cell carcinoma, Increased circulating antibody level, Cirr... OMIM:178500
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia OMIM:143860
Bleeding Disorder, Platelet-Type, 15
Epistaxis, Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggrega... OMIM:615193
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal bleeding, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet... ORPHA:231393
Bleeding Disorder, Platelet-Type, 8
Epistaxis, Abnormal bleeding, Bruising susceptibility, Impaired ADP-induced platelet aggregation,... OMIM:609821
Glanzmann Thrombasthenia
Gingival bleeding, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Bruisi... ORPHA:849
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Decreased circulating renin level OMIM:614492
Von Willebrand Disease, Type 3
Epistaxis, Abnormal bleeding, Bruising susceptibility, Persistent bleeding after trauma, Prolonge... OMIM:277480
Thrombocytopenia With Beta-Thalassemia, X-Linked
Epistaxis, Increased RBC distribution width, Bruising susceptibility, Reduced platelet alpha gran... OMIM:314050
Thrombocytopenia 9
Abnormal bleeding, Abnormal platelet aggregation, Thrombocytopenia OMIM:620478
Gray Platelet Syndrome
Epistaxis, Abnormal bleeding, Abnormal number of alpha granules, Bruising susceptibility, Impaire... OMIM:139090
Slc35A1-Cdg
Pneumonia, Giant platelets, Abnormal bleeding, Subcutaneous hemorrhage, Pulmonary hemorrhage, Abn... ORPHA:238459
Hepatorenocardiac Degenerative Fibrosis
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hyperechogeni... OMIM:619902
Bleeding Disorder, Platelet-Type, 17
Epistaxis, Gastrointestinal hemorrhage, Increased RBC distribution width, Bruising susceptibility... OMIM:187900
Platelet Glycoprotein Iv Deficiency
Abnormal bleeding, Giant platelets, Prolonged bleeding time, Thrombocytopenia OMIM:608404
Von Willebrand Disease, Platelet-Type
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Gingival bleeding, Epistaxis, Stomatocytosis, Bruising susceptibility, Prolonged bleeding after d... OMIM:153670
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Hypertension, Raynaud phenomenon, Thrombocytopenia ORPHA:401945
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgG level, Secundum atrial septal defect, Decreased proportion of CD8-posit... OMIM:611926
Hemochromatosis, Type 2B
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Conges... OMIM:613313
Cystic Hamartoma Of Lung And Kidney
Recurrent respiratory infections, Pulmonary fibrosis, Hypertension, Multicystic kidney dysplasia ORPHA:2111
Pulmonary Hemosiderosis
Pulmonary fibrosis, Recurrent intrapulmonary hemorrhage, Iron deficiency anemia OMIM:178550
Platelet Disorder, Undefined
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired neutrophil chemotaxis, Neu... OMIM:618986
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Bone marrow hypocellularity, A... OMIM:614742
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Epistaxis, Impaired collagen-induced platelet aggregation, Acute monocytic leukemia, Bruising sus... OMIM:601399
Immune Thrombocytopenia
Abnormal bleeding, Thrombocytopenia OMIM:188030
Essential Thrombocythemia
Acute leukemia, Abnormality of thrombocytes, Prolonged bleeding time, Abnormal bleeding, Bruising... ORPHA:3318
Von Willebrand Disease, Type 1
Aortic valve stenosis, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged... OMIM:193400
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Cirrhosis, Myeloid leukemia, Leukemia... OMIM:614743
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly, Abnormal pulmonary ... OMIM:607616
Hermansky-Pudlak Syndrome 3
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Spontaneous, recurrent epistaxis, ... OMIM:614072
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Bruising susceptibility, Recurrent respiratory infec... ORPHA:3226
Bleeding Disorder, Platelet-Type, 21
Abnormal bleeding, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impaired platelet... OMIM:617443
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent upper respiratory tract infections, Hemophagocytosis, Hepatosplenomegaly, Splenomegaly,... OMIM:613101
Idiopathic Pulmonary Hemosiderosis
Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Hepatosplenomegaly, Nodular pat... ORPHA:99931
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Hyperechogenic kidn... OMIM:616217
Quebec Platelet Disorder
Epistaxis, Bruising susceptibility, Thrombocytopenia, Joint hemorrhage, Menorrhagia, Impaired epi... OMIM:601709
Sarcoidosis, Susceptibility To, 2
Mediastinal lymphadenopathy, Emphysema, Pleural effusion, Splenomegaly, Pneumothorax, Pulmonary a... OMIM:612387
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Cellulitis, Decreased circulating IgG level, Increased circulating IgE level, Decreased proportio... OMIM:618944
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Nodular regenerative hyperplasia of liver, Usual interstitial pneumonia, Hepatic failure, Increas... OMIM:620367
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Hepatic bridging fibrosis, Howell-Jolly bodies, Portal inflammation, Ventricular septal defect, E... OMIM:613759
Preeclampsia/Eclampsia 1
Proteinuria, Elevated circulating hepatic transaminase concentration, Hypertension, Thrombocytopenia OMIM:189800
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:300971
Hermansky-Pudlak Syndrome 7
Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction, Persistent bleedi... OMIM:614076
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Abnormality of neutrophils, Pancytopenia, Abnormal macrophage morp... ORPHA:2585
Felty Syndrome
Bone marrow hypocellularity, Recurrent pneumonia, Recurrent urinary tract infections, Abnormal ly... ORPHA:47612
Immunodeficiency 91 And Hyperinflammation
Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Nephrotic syndrome,... OMIM:619644
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Decreased prop... OMIM:619374
Pulmonary Nodular Lymphoid Hyperplasia
Nodular pattern on pulmonary HRCT, Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacyt... ORPHA:60026
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... OMIM:606843
Episodic Ataxia, Type 1
Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech OMIM:160120
Bernard-Soulier Syndrome
Gingival bleeding, Gastrointestinal hemorrhage, Giant platelets, Decreased platelet glycoprotein ... ORPHA:274
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne... OMIM:263200
Gray Platelet Syndrome
Epistaxis, Abnormality of thrombocytes, Bruising susceptibility, Abnormal bleeding, Splenomegaly,... ORPHA:721
Nephronophthisis 16
Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Cholestasis, Hypertrophic cardiomyo... OMIM:615382
Von Willebrand Disease, X-Linked Form
Abnormal bleeding, Prolonged bleeding time OMIM:314560
Idiopathic Pulmonary Fibrosis
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Honeycomb lung, Pulmonary insu... ORPHA:2032
Renal-Hepatic-Pancreatic Dysplasia 2
Malformation of the hepatic ductal plate, Hepatic fibrosis, Aortic valve stenosis, Abnormal lung ... OMIM:615415
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Recurrent tonsillitis, Lymphadenitis, Granuloma, Lymphopenia, Hepatosplenome... OMIM:618935
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia, Decreased skull ossification ORPHA:3319
Bleeding Disorder, Platelet-Type, 19
Epistaxis, Abnormal bleeding, Spontaneous hematomas, Thrombocytopenia, Anemia, Macrothrombocytope... OMIM:616176
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 9
Leukemia, Leukopenia, Pulmonary fibrosis OMIM:620400
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circulating hepatic tran... ORPHA:64743
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Decreased circulating IgG level, Pancytopenia, Decreased ... OMIM:618394
Mixed Connective Tissue Disease
Nephropathy, Gastrointestinal hemorrhage, Mediastinal lymphadenopathy, Hemolytic anemia, Leukopen... ORPHA:809
Neutrophil Immunodeficiency Syndrome
Abnormality of neutrophil physiology, Leukocytosis ORPHA:183707
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Spl... OMIM:614480
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Microcytic anemia, Abn... ORPHA:90308
Immunodeficiency 32B
Pneumonia, Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, Anemia, Eosino... OMIM:226990
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hypocholesterolemia, Hypersplenism, Myoclonus, Splenomegaly, Thrombocytopenia, Anemia... OMIM:610539
Specific Granule Deficiency 1
Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent ne... OMIM:245480
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hyper... ORPHA:369
Tatsumi Factor Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:272650
Hermansky-Pudlak Syndrome 4
Epistaxis, Abnormal bleeding, Bruising susceptibility, Absent platelet dense granules, Pulmonary ... OMIM:614073
Bleeding Disorder, Platelet-Type, 12
Epistaxis, Intestinal bleeding, Bruising susceptibility, Impaired platelet aggregation, Joint hem... OMIM:605735
Bleeding Disorder, Platelet-Type, 9
Bruising susceptibility, Thrombocytopenia OMIM:614200
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Elevated circulating hepatic transaminase concentration, ... ORPHA:79124
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Abnormal bone structure, Persistence of hemoglobin F ORPHA:46532
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... OMIM:619658
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Reduced h... ORPHA:79126
Immunodeficiency 25
Increased circulating IgE level, Complete or near-complete absence of specific antibody response ... OMIM:610163
Asbestos Intoxication
Cor pulmonale, Right ventricular failure, Abnormal pulmonary interstitial morphology, Atelectasis... ORPHA:2302
Immunodeficiency 114, Folate-Responsive
Decreased circulating IgG level, Increased circulating IgE level, Lymphopenia, Splenomegaly, Mega... OMIM:620603
Polymyositis
Vasculitis, Gastrointestinal hemorrhage, Abnormal atrioventricular conduction, Dilated cardiomyop... ORPHA:732
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Dyskeratosis Congenita, Autosomal Dominant 2
Hepatic fibrosis, Bone marrow hypocellularity, Dilated cardiomyopathy, Aplastic anemia, Pancytope... OMIM:613989
Chronic Beryllium Disease
Reticulonodular pattern on pulmonary HRCT, Lymphocytic interstitial pneumonia, Hypersensitivity p... ORPHA:133
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Osteopenia, Decreased circulating IgG level, Increased circulating IgE level, Decreased circulati... ORPHA:98813
Fadd-Related Immunodeficiency
Hepatic fibrosis, Pulmonary artery atresia, Decreased liver function, Ventricular septal defect ORPHA:306550
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... OMIM:616278
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Periportal fibrosis, Increased hepa... OMIM:278000
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Ane... OMIM:615285
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Spasticity, Tremor, Babinski sign, Ataxia, Flexion contracture OMIM:611105
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620126
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Emphysema, Stage 5 chronic kidney disease, Lung adenocarcinoma, Protei... OMIM:618913
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Cholestasis, Cirrhosis, Atrial septal defect, Hepatomegaly, Polycystic kid... OMIM:208540
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Abnormality of the liver, Subcutaneous hemorrhage, Thrombocytopenia ORPHA:1980
Thrombocytopenia, Paris-Trousseau Type
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia OMIM:188025
Diffuse Alveolar Hemorrhage
Leukocytosis, Pulmonary venous hypertension, Hematuria, Proteinuria, Irregular septal thickening ... ORPHA:90060
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Mac... OMIM:300835
Hermansky-Pudlak Syndrome 5
Epistaxis, Bruising susceptibility, Impaired ADP-induced platelet aggregation, Absent platelet de... OMIM:614074
Factor V Deficiency
Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged prothrombin time, Prolonged blee... OMIM:227400
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia OMIM:620152
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620125
Eosinophilia, Familial
Leukocytosis, Recurrent bronchitis, Eosinophilia, Thrombocytopenia, Myocardial eosinophilic infil... OMIM:131400
Aspergillosis
Pneumonia, Hepatitis, Increased circulating IgE level, Pleural effusion, Eosinophilia, Hypersensi... ORPHA:1163
Gaucher Disease, Type I
Aortic valve stenosis, Epistaxis, Hypersplenism, Pancytopenia, Splenomegaly, Mitral regurgitation... OMIM:230800
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... OMIM:618982
Transaldolase Deficiency
Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Hepatosplenomegaly, Pancytope... OMIM:606003
Interstitial Lung And Liver Disease
Aminoaciduria, Hepatic fibrosis, Hepatic failure, Intraalveolar phospholipid accumulation, Choles... OMIM:615486
Adams-Oliver Syndrome 6
Hepatic fibrosis, Renal hypoplasia, Tricuspid regurgitation, Portal hypertension, Splenomegaly, V... OMIM:616589
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Hepatic fibrosis, Granuloma, Hemophagocytosis, Hepatosplenomegaly, Pan... OMIM:619858
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Neutropenia, Recurrent ph... OMIM:308240
Neurofibromatosis-Noonan Syndrome
Hypertrophic cardiomyopathy, Prolonged bleeding time, Pulmonic stenosis, Abnormality of the lymph... ORPHA:638
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega... OMIM:269600
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgE level, Decreased proportion of CD8-positive T cells, Reduced delayed hy... OMIM:617241
Hermansky-Pudlak Syndrome 2
Recurrent pneumonia, Reduced natural killer cell count, Enlarged platelet dense granules, Reduced... OMIM:608233
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Abnormally low T cell receptor excision circle level, Hepatic fibrosis, Gastrointestinal hemorrha... OMIM:617341
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension, Thrombocytopenia OMIM:166990
Senior-Boichis Syndrome
Chronic kidney disease, Abnormal urinary electrolyte concentration, Cholestasis, Hepatosplenomega... ORPHA:84081
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Splenomegaly, Hepatomegaly OMIM:616719
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Emphysema, Lymphopenia, Portal hypertension, Thrombocytopenia, Anemia, Pulmonary fibrosis OMIM:620365
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia OMIM:616949
Refractory Anemia
Normocytic anemia, Bone marrow hypocellularity, Abnormal bleeding, Macrocytic anemia, Anemia of i... ORPHA:98826
Immunodeficiency, Common Variable, 11
Increased circulating IgE level, Decreased circulating IgG level, Abnormal T cell count, Decrease... OMIM:615767
Nephrotic Syndrome, Type 7
Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kidney disease, Podo... OMIM:615008
Hemophilia B
Prolonged bleeding after dental extraction, Intracranial hemorrhage, Spontaneous, recurrent epist... ORPHA:98879
Retinitis Pigmentosa 89
Hepatic fibrosis, Micronodular cirrhosis, Hepatosplenomegaly, Intrahepatic bile duct dilatation, ... OMIM:618955
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia ORPHA:35710
Transaldolase Deficiency
Biventricular hypertrophy, Hepatosplenomegaly, Telangiectasia, Cirrhosis, Atrial septal defect, T... ORPHA:101028
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgE level, Lymph... ORPHA:169154
Splenoportal Vascular Anomalies
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Splenomegaly OMIM:271500
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of... OMIM:212050
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Giant platelets, Bruising susceptibility, Prolonged bleeding after d... OMIM:137560
Coach Syndrome 2
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Portal fibrosis, Hyper... OMIM:619111
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hematochezia, Hepatitis, El... OMIM:613812
Al Amyloidosis
Postural hypotension with compensatory tachycardia, Abnormal cardiac atrium morphology, Increased... ORPHA:85443
Autoimmune Lymphoproliferative Syndrome, Type Iia
Follicular hyperplasia, Increased circulating IgA level, Hepatomegaly, Nephrotic syndrome, Autoim... OMIM:603909
Erythroleukemia, Familial, Susceptibility To
Leukemia, Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, ... OMIM:133180
Senior-Loken Syndrome
Chronic kidney disease, Nephronophthisis, Stage 5 chronic kidney disease, Congenital hepatic fibr... ORPHA:3156
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619824
Hemochromatosis, Neonatal
Hepatic fibrosis, Hepatic failure, Abnormal bleeding, Hepatocellular necrosis, Cholestasis, Cirrh... OMIM:231100
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4
Pulmonary fibrosis, Honeycomb lung OMIM:616371
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per... ORPHA:139507
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal ... OMIM:614561
Polycythemia Vera
Gastrointestinal hemorrhage, Budd-Chiari syndrome, Increased hematocrit, Cerebral ischemia, Throm... OMIM:263300
Glycogen Storage Disease Iii
Hepatic fibrosis, Ventricular hypertrophy, Elevated circulating hepatic transaminase concentratio... OMIM:232400
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Radioulnar synostosis, Amegakaryocytic thrombocytopenia ORPHA:71289
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypernatremia OMIM:304800
Primary Dystonia, Dyt27 Type
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro... ORPHA:464440
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoornithinemia, Hyperammonemia, Hyperprolinemia, Hyperglutaminemia, Low plasma citrulline, Hype... OMIM:615751
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 3
Usual interstitial pneumonia, Pulmonary fibrosis OMIM:616373
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Reduced natural killer cell count, Decreased circulating ... OMIM:619510
Riddle Syndrome
Decreased circulating IgG level, Pulmonary fibrosis OMIM:611943
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Increased circulating IgE level, Craniosynostosis, Joint contracture of the hand, Eosinophilia OMIM:618523
Wild Type Attr Amyloidosis
Aortic valve stenosis, Nephropathy, Nephrotic syndrome, Congestive heart failure, Hypertrophic ca... ORPHA:330001
Prothrombin Deficiency, Congenital
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Ecchymosis, P... OMIM:613679
Transcobalamin Deficiency
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Pancytopenia, Neut... ORPHA:859
Bleeding Disorder, Platelet-Type, 20
Menorrhagia, Epistaxis, Bruising susceptibility, Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Menorrhagia, Epistaxis, Bruising susceptibility, Thrombocytopenia OMIM:613554
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 5
Bone marrow hypocellularity, Pulmonary fibrosis OMIM:618674
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level OMIM:235900
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Hermansky-Pudlak Syndrome 6
Epistaxis, Recurrent upper respiratory tract infections, Bruising susceptibility, Recurrent urina... OMIM:614075
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal pulmonary interstitial morphology, Nephrotic syndrome ORPHA:401835
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Osteoporosis, Eosinophilia OMIM:620532
Hermansky-Pudlak Syndrome 1
Gingival bleeding, Hematochezia, Epistaxis, Bruising susceptibility, Cardiomyopathy, Renal insuff... OMIM:203300
Sting-Associated Vasculopathy, Infantile-Onset
Lymphopenia, Leukopenia, Follicular hyperplasia, Telangiectasia, Increased circulating IgA level,... OMIM:615934
Babesiosis
Hepatic failure, Congestive heart failure, Leukopenia, Renal insufficiency, Splenomegaly, Thrombo... ORPHA:108
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, Abnormal bleeding, HbH hemoglobin, Bruising susceptibility, Microcytic anemia, Sp... ORPHA:231401
Dystonia 27
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... OMIM:616411
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia ORPHA:529799
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia ORPHA:529808
Congenital Factor Ii Deficiency
Epistaxis, Abnormal bleeding, Prolonged bleeding following circumcision, Excessive bleeding from ... ORPHA:325
Hermansky-Pudlak Syndrome 9
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Porphyria Cutanea Tarda, Type I
Hepatic fibrosis, Porphyrinuria OMIM:176090
Limited Cutaneous Systemic Sclerosis
Telangiectasia of the skin, Pulmonary arterial hypertension, Pulmonary fibrosis, Mucosal telangie... ORPHA:220402
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Abnormal localization of kidney, Congenital hepatic fibrosis ORPHA:446
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ... OMIM:619802
Dyskeratosis Congenita, Autosomal Dominant 1
Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Budd-Chiari synd... OMIM:127550
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical... ORPHA:98769
Gaucher Disease Type 1
Gingival bleeding, Hepatosplenomegaly, Hypersplenism, Pancytopenia, Increased circulating antibod... ORPHA:77259
Wiskott-Aldrich Syndrome
Nephropathy, Gingival bleeding, Decreased proportion of CD8-positive T cells, Lymphopenia, Abnorm... OMIM:301000
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Hypoplasia ... OMIM:300400
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive... ORPHA:3261
Neonatal Lupus Erythematosus
Hepatic failure, Elevated circulating hepatic transaminase concentration, Atrioventricular block,... ORPHA:398124
Dyskeratosis Congenita, Autosomal Dominant 3
Bone marrow hypocellularity, Gastrointestinal hemorrhage, Aplastic anemia, Pancytopenia, Leukopen... OMIM:613990
Wiskott-Aldrich Syndrome
Nephropathy, Gingival bleeding, Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia... ORPHA:906
Sitosterolemia 1
Stomatocytosis, Giant platelets, Abnormal bleeding, Reticulocytosis, Splenomegaly, Episodic hemol... OMIM:210250
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Mesangial hypercellularity, Hem... OMIM:616414
Atypical Hemolytic Uremic Syndrome
Decreased circulating complement factor B concentration, Abnormality of complement system, Microa... ORPHA:2134
Q Fever
Hepatosplenomegaly, Increased circulating antibody level, Hematuria, Hepatomegaly, Purpura, Endoc... ORPHA:781
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating IgG level, Reduced natural killer cell count, Increased circulating IgE lev... OMIM:619752
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Abnormality of humoral immunity, Lack of T cell function, Increased circulating IgE level, Lympho... ORPHA:277
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Epistaxis, Elevated circulating hepatic transaminase c... OMIM:619463
Blue Rubber Bleb Nevus
Microcytic anemia, Intestinal bleeding, Prolonged bleeding time ORPHA:1059
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni... OMIM:300539
Von Willebrand Disease
Epistaxis, Gastrointestinal hemorrhage, Abnormality of thrombocytes, Bruising susceptibility, Mic... ORPHA:903
Congenital Disorder Of Glycosylation, Type Iic
Pneumonia, Reduction of neutrophil motility, Bronchiolitis, Neutrophilia OMIM:266265
Immune Thrombocytopenia
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hemorrhage of the eye, Bruising suscep... ORPHA:3002
Primary Dystonia, Dyt13 Type
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... ORPHA:98807
Immunodeficiency 11B With Atopic Dermatitis
Increased circulating IgE level, Eosinophilia, Decreased circulating total IgM OMIM:617638
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
Congenital Disorder Of Glycosylation, Type Iif
Aortic regurgitation, Aminoaciduria, Subcutaneous hemorrhage, Pulmonary hemorrhage, Decreased pla... OMIM:603585
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:214700
Aicardi-Goutieres Syndrome 6
Splenomegaly, Tremor, Rigidity, Increased circulating Interferon-alpha concentration, Thrombocyto... OMIM:615010
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Dysmetria, Ankle clonus, Babinsk... OMIM:159550
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Port... OMIM:617394
Surfactant Metabolism Dysfunction, Pulmonary, 2
Recurrent pneumonia, Intralobular septal thickening, Spontaneous pneumothorax, Intraalveolar phos... OMIM:610913
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Abnormal bleeding, Hematuria, Increased circulating IgA level, Glomerulonephritis, Thrombocytopenia OMIM:314000
Immunodeficiency 47
Hepatic bridging fibrosis, Decreased circulating total IgG, Chronic decreased circulating total I... OMIM:300972
Autosomal Recessive Polycystic Kidney Disease
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun... ORPHA:731
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P... OMIM:619767
Nephronophthisis 3
Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinu... OMIM:604387
Caroli Syndrome
Hypersplenism, Congenital hepatic fibrosis, Cirrhosis, Abnormal ductus choledochus morphology, Ab... ORPHA:480520
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:610600
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Increased circulating IgE level, Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-po... OMIM:304790
Coach Syndrome 1
Hepatic fibrosis, Unilateral renal agenesis, Elevated circulating hepatic transaminase concentrat... OMIM:216360
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Anemia, Lymphadenopathy, Neutropenia, Thrombocytopenia, Hepatomeg... OMIM:603552
Hermansky-Pudlak Syndrome 11
Gingival bleeding, Epistaxis, Bruising susceptibility, Reduced platelet dense granules, Impaired ... OMIM:619172
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Chronic kidney disease, Hepatic fibrosis, Hepatic failure, Nephronophthisis, Cholestasis, Splenom... OMIM:615630
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level, Atrophic scars, Scarring ORPHA:89843
Thrombocytopenia 5
Epistaxis, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Bruising susceptibi... OMIM:616216
Non-Involuting Congenital Hemangioma
Hepatic hemangioma, Telangiectasia of the skin, Thrombocytopenia, Congestive heart failure ORPHA:141179
Idiopathic Hypereosinophilic Syndrome
Hepatosplenomegaly, Thrombocytosis, Myocardial eosinophilic infiltration, Neutrophilia, Myeloprol... ORPHA:3260
Hypoadrenocorticism, Familial
Hyponatremia, Hyperkalemia OMIM:240200
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... OMIM:605407
Typhoid
Epistaxis, Gastrointestinal hemorrhage, Splenomegaly, Arrhythmia, Hepatomegaly, Abnormal pulmonar... ORPHA:99745
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:203400
Lymphoid Interstitial Pneumonia
Subpleural interstitial thickening, Respiratory tract infection, Pulmonary venous hypertension, M... ORPHA:79128
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Kimura Disease
Increased circulating IgE level, Eosinophilia ORPHA:482
Relapsing Fever
Epistaxis, Hypotension, Elevated circulating hepatic transaminase concentration, Acute kidney inj... ORPHA:91547
Senior-Loken Syndrome 9
Hepatic fibrosis, Nephronophthisis, Cholestasis, Stage 5 chronic kidney disease, Chronic bronchit... OMIM:616629
Sandhoff Disease, Adult Form
Spasticity, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia ORPHA:309169
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Tetraparesis, Myoclonus, Hypertriglyceridemia, Tremor, Abnormal pyramidal sign, Ataxi... OMIM:615924
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Acute hepatic failure, Hepatic fibrosis, Hepatosplenomegaly ORPHA:466794
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No... OMIM:613470
Pontocerebellar Hypoplasia, Type 15
Spastic tetraplegia, Hypertonia, Thrombocytopenia, Anemia, Dystonia, Chronic neutropenia OMIM:619302
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... OMIM:610921
Scedosporiosis
Pneumonia, Bronchitis, Abnormal renal morphology, Pulmonary fibrosis, Pleuritis, Endocarditis, Pl... ORPHA:449280
Preeclampsia
Chronic kidney disease, Elevated systolic blood pressure, Abnormality of the hepatic vasculature,... ORPHA:275555
Lysinuric Protein Intolerance
Hemophagocytosis, Hepatosplenomegaly, Increased circulating antibody level, Cirrhosis, Glomerulon... ORPHA:470
Amegakaryocytic Thrombocytopenia, Congenital, 1
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
Thrombocytopenia 1
Decreased mean platelet volume, Increased circulating IgE level, Increased circulating IgA level,... OMIM:313900
Aicardi-Goutieres Syndrome 9
Thickened glomerular basement membrane, Hepatosplenomegaly, Hepatic steatosis, Glomerular scleros... OMIM:619487
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Anemia, Osteoporosis, ... ORPHA:100024
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Decreased circulating IgG level, Atelectasis, Hepatocellular necrosis, H... OMIM:618278
Forsythe-Wakeling Syndrome
Osteoporosis, Thrombocytopenia OMIM:613606
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Ghosal Hematodiaphyseal Dysplasia
Bone marrow hypocellularity, Hyperostosis cranialis interna, Leukopenia, Thrombocytopenia, Myelof... OMIM:231095
Hemoglobin H Disease
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Immunodeficiency 67
Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co... OMIM:607676
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Fetal Parvovirus Syndrome
Hypertrophic cardiomyopathy, Anemia, Thrombocytopenia ORPHA:295
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Periportal fibrosis, Abnormality of the urinary system OMIM:213010
Congenital Disorder Of Glycosylation, Type Iiaa
Persistent patent ductus venosus, Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperpl... OMIM:620454
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Hepatomegaly, Pulmonary fibrosis OMIM:615704
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hypertension, Hepatic steatosis ORPHA:280356
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... OMIM:603902
Dyskeratosis Congenita, Autosomal Recessive 1
Bone marrow hypocellularity, Hepatic fibrosis, Aplastic anemia, Pancytopenia, Thrombocytopenia, P... OMIM:224230
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatic fibrosis, Hematochezia, Elevated circulating hepatic transaminase concentration, Dilated ... OMIM:615895
Thrombotic Thrombocytopenic Purpura
Acute kidney injury, Microangiopathic hemolytic anemia, Renal insufficiency, Reticulocytosis, Hem... ORPHA:54057
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Pleural effusion, Sp... OMIM:613011
Infantile Liver Failure Syndrome 3
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ... OMIM:618641
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Defective T c... OMIM:614493
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated circulating creatine kin... ORPHA:94093
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Impaired memory B cell generation, Abnormal circulating IgM leve... OMIM:308230
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Right bundle branch block, Atelectasis, Pulmonary fibrosis ORPHA:254361
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia, Abnormal bleeding, Prolonged bleeding time OMIM:185050
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Hypersensitivity Pneumonitis, Familial
Hypersensitivity pneumonitis OMIM:145300
Rhabdoid Tumor
Renal neoplasm, Hematuria, Neoplasm of the liver, Internal hemorrhage, Lymphadenopathy, Thrombocy... ORPHA:69077
Acute Myelomonocytic Leukemia
Abnormal bleeding, Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia ORPHA:517
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Porta... ORPHA:53035
Rapidly Involuting Congenital Hemangioma
Hepatic hemangioma, Telangiectasia of the skin, Thrombocytopenia, Congestive heart failure ORPHA:141184
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... OMIM:202700
Syndromic Diarrhea
Aortic regurgitation, Hepatic fibrosis, Peripheral pulmonary artery stenosis, Renal hypoplasia, P... ORPHA:84064
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Cardiomyopathy, Renal insufficiency, Splenomegaly, Anemia, Pancreatitis, Neutropenia, Thrombocyto... ORPHA:79312
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Hypotension, Decreased liver function, Hepatosplenomegaly, Hypersple... ORPHA:98850
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski sign, Abnormal pyramidal sig... OMIM:607317
Roch-Leri Mesosomatous Lipomatosis
Multiple lipomas, Thrombocytopenia ORPHA:529
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Chediak-Higashi Syndrome
Hemophagocytosis, Bruising susceptibility, Leukopenia, Giant neutrophil granules, Splenomegaly, S... OMIM:214500
Cardiac-Urogenital Syndrome
Biventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Dextrocardia, Tachyca... OMIM:618280
Congenital Disorder Of Glycosylation, Type Ib
Hepatic fibrosis, Hepatic failure, Proximal tubulopathy, Abnormal bleeding, Renal cyst, Cirrhosis... OMIM:602579
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypoalbuminemia, Hypernatremia OMIM:615508
Necrobiosis Lipoidica
Abnormality of neutrophil physiology, Telangiectasia of the skin, Granuloma ORPHA:542592
Primary Myelofibrosis
Abnormal bleeding, Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Portal hyperte... ORPHA:824
Chédiak-Higashi Syndrome
Gingival bleeding, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Jaundice, Ple... ORPHA:167
Hardikar Syndrome
Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Ventricular septal defect, C... OMIM:301068
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
3-Methylglutaconic Aciduria Type 4
Cardiomyopathy, 3-Methylglutaconic aciduria, Thrombocytopenia, Decreased liver function ORPHA:67048
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe... OMIM:260300
Immunodeficiency 23
Increased circulating IgE level, Lymphopenia, Myoclonus, Joint hypermobility, Eosinophilia, Neutr... OMIM:615816
Primary Sclerosing Cholangitis
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... ORPHA:171
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Increased circulating IgE level, Osteoporosis, Recurrent fractures, Flex... ORPHA:3409
Nephrogenic Diabetes Insipidus
Hypernatremia ORPHA:223
Dominant Beta-Thalassemia
Hepatic fibrosis, Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hematopoiesis, Per... ORPHA:231226
Pyruvate Carboxylase Deficiency
Neonatal hyperbilirubinemia, Hyperammonemia, Hyperglutamatemia, Hyperprolinemia, Hypoglutaminemia... ORPHA:3008
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Laryngeal dystonia, Bradykinesia, Gait ataxia, Abnormal pyramidal sig... ORPHA:101110
Gaucher Disease
Aortic valve calcification, Gingival bleeding, Pancytopenia, Increased circulating antibody level... ORPHA:355
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Cellulitis, Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Spl... OMIM:615513
Granulomatosis With Polyangiitis
Hematuria, Arrhythmia, Purpura, Vasculitis, Gastrointestinal hemorrhage, Ureteral stenosis, Renal... ORPHA:900
Erdheim-Chester Disease
Congestive heart failure, Abnormal pericardium morphology, Pleural effusion, Renal insufficiency,... ORPHA:35687
Gaucher Disease Type 3
Aortic valve calcification, Abnormal heart valve morphology, Pancytopenia, Splenomegaly, Increase... ORPHA:77261
Bone Marrow Failure Syndrome 5
Decreased circulating antibody level, Erythroid hypoplasia, Anemia, Pure red cell aplasia, Pulmon... OMIM:618165
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyperchloriduria, Hyponatremia, Hypochloremia OMIM:613090
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... OMIM:619662
Interstitial Pneumonitis, Desquamative, Familial
Cor pulmonale, Recurrent upper respiratory tract infections, Type II pneumocyte hypertrophy, Desq... OMIM:263000
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Epistaxis, Subconjunctival hemorrhage, Abnormal bleeding, Bruising susceptib... ORPHA:464329
Overlap Myositis
Elevated circulating hepatic transaminase concentration, Abnormal heart morphology, Leukopenia, P... ORPHA:206572
Pontocerebellar Hypoplasia, Type 14
Spastic tetraplegia, Thrombocytopenia, Hypertonia, Dystonia, Chronic neutropenia OMIM:619301
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Decreased proportion of CD4... ORPHA:443811
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia OMIM:618425
Aicardi-Goutieres Syndrome 3
Hepatosplenomegaly, Elevated circulating hepatic transaminase concentration, Thrombocytopenia OMIM:610329
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Micropenis, Pulmonary fibrosis, Myocardial infarction ORPHA:457240
Immunodeficiency 13
Recurrent upper respiratory tract infections, Recurrent pneumonia, Lymphopenia, Decreased CD4:CD8... OMIM:615518
Sarcoidosis, Susceptibility To, 1
Mediastinal lymphadenopathy, Emphysema, Pericardial effusion, Pancytopenia, Pleural effusion, Spl... OMIM:181000
Nephronophthisis 11
Hepatic fibrosis, Nephronophthisis, Tubular basement membrane disintegration, Stage 5 chronic kid... OMIM:613550
Braddock Syndrome
Unilateral renal agenesis, Pulmonary arterial hypertension, Pulmonary fibrosis ORPHA:52047
Riddle Syndrome
Pneumonia, Enuresis nocturna, Recurrent pneumonia, Decreased circulating IgG level, Bronchitis, D... ORPHA:420741
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:66661
Indolent Systemic Mastocytosis
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega... ORPHA:98848
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Recurrent upper respiratory tract infections, Exocrine pancreatic insufficiency, Hepatosplenomega... OMIM:615952
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Cellulitis, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased specific anti-polysac... OMIM:606367
Cernunnos-Xlf Deficiency
Lymphopenia, T lymphocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Decreased circulatin... ORPHA:169079
Joubert Syndrome 35
Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis, Recurrent urinary tract infections OMIM:618161
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... OMIM:613092
Sea-Blue Histiocytosis
Abnormal bleeding, Sea-blue histiocytosis, Splenomegaly, Petechiae, Thrombocytopenia, Hepatomegal... ORPHA:158029
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:177735
Gallbladder Disease 1
Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal... OMIM:600803
Caffey Disease
Cellulitis, Cortical irregularity, Periosteal thickening of long tubular bones, Increased circula... ORPHA:1310
Systemic Lupus Erythematosus
Nephritis, Leukopenia, Pleuritis, Lupus nephritis, Thrombocytopenia, Hemolytic anemia, Pericarditis OMIM:152700
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... OMIM:608203
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Pan... OMIM:603471
Beta-Thalassemia Major
Hepatic fibrosis, Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hematopoiesis, Per... ORPHA:231214
Beta-Thalassemia
Cholelithiasis, Hepatitis, Hypertrophic cardiomyopathy, Microcytic anemia, Splenomegaly, Abnormal... ORPHA:848
Bronchial Neuroendocrine Tumor
Pneumonia, Abnormal pulmonary valve cusp morphology, Hepatic failure, Hypotension, Right ventricu... ORPHA:97287
Antisynthetase Syndrome
Aortic regurgitation, Pulmonary arterial hypertension, Telangiectasia of the skin, Myocarditis, A... ORPHA:81
Spinocerebellar Ataxia 40
Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Ataxia, In... OMIM:616053
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hepatic failure, Elevated circulating hepatic transaminase concentration, Reduced natural killer ... ORPHA:158057
Webb-Dattani Syndrome
Hypernatremia OMIM:615926
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:556037
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke... OMIM:619041
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Multiple joint contractures, Tremor, Ankle clonus, Dystonia, Babinski sign, Parkinson... ORPHA:521406
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy... OMIM:153600
Mgat2-Cdg
Decreased circulating IgG level, Abnormal bleeding, Abnormal heart morphology, Ventricular septal... ORPHA:79329
Neutropenia, Chronic Familial
Neutropenia, Increased circulating antibody level OMIM:162700
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Atelectasis, Hilar lymph node enlargement, Cholestasi... OMIM:620233
Systemic Sclerosis
Chronic kidney disease, Intestinal bleeding, Acute kidney injury, Right ventricular failure, Nail... ORPHA:90291
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Incoordination, Postural tremor, Cogwheel rigidity, Gait ataxia, Dyst... OMIM:128230
Boutonneuse Fever
Vasculitis, Elevated circulating hepatic transaminase concentration, Cervical lymphadenopathy, Le... ORPHA:83313
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Congenital Disorder Of Glycosylation, Type Ia
Hepatic fibrosis, Decreased circulating IgG level, Elevated circulating hepatic transaminase conc... OMIM:212065
Hjv Or Hamp-Related Hemochromatosis
Elevated circulating hepatic transaminase concentration, Abnormality of endocrine pancreas physio... ORPHA:79230
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Cellulitis, Osteopenia, Increased circulating IgE level, Osteomyelitis, Joint hypermobility, Eosi... ORPHA:2314
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil ... OMIM:619220
Leishmaniasis
Elevated circulating hepatic transaminase concentration, Abnormal bleeding, Pancytopenia, Leukope... ORPHA:507
Mpi-Cdg
Hepatic fibrosis, Gastrointestinal hemorrhage, Decreased liver function, Portal hypertension, Hep... ORPHA:79319
Dystonia 11, Myoclonic
Myoclonus, Writer's cramp, Tremor, Torticollis OMIM:159900
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Increased circulating antibody level, Lymphocytosis, Neutropenia, Mon... OMIM:614470
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Tremor, Hyperkinetic movements, Frequent falls, Hemiballismus OMIM:616921
Diffuse Cutaneous Systemic Sclerosis
Hypertensive crisis, Oliguria, Congestive heart failure, Renal insufficiency, Telangiectasia of t... ORPHA:220393
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Cardi... ORPHA:264580
Systemic Lupus Erythematosus 17
Lymphopenia, Chorea, Leukopenia, Decreased circulating complement C4 concentration, Thrombocytope... OMIM:301080
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Hyperkalemia OMIM:264350
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Idiopathic Aplastic Anemia
Gingival bleeding, Epistaxis, Bone marrow hypocellularity, Pancytopenia, Ecchymosis, Anemia, Reti... ORPHA:88
Acute Promyelocytic Leukemia
Gingival bleeding, Epistaxis, Diffuse alveolar hemorrhage, Abnormal bleeding, Bruising susceptibi... ORPHA:520
Combined Immunodeficiency Due To Dock8 Deficiency
Increased circulating IgE level, T lymphocytopenia, B lymphocytopenia ORPHA:217390
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, Elevated circulati... OMIM:251880
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibody level OMIM:247800
Thiamine-Responsive Megaloblastic Anemia Syndrome
Congestive heart failure, Ventricular septal defect, Paroxysmal atrial tachycardia, Megaloblastic... ORPHA:49827
Vitamin B12-Unresponsive Methylmalonic Acidemia
Cardiomyopathy, Leukopenia, Renal insufficiency, Macrocytic anemia, Anemia, Pancreatitis, Thrombo... ORPHA:27