Gene Summary

Name:
actin related protein 2/3 complex, subunit 1B
Synonyms:
SOP2Hs,  p41-ARC,  L72

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 mature NK cell number Arpc1btm1a(EUCOMM)Wtsi HOM   Early adult 0.00
decreased Ly6C-positive mature NK cell number Arpc1btm1a(EUCOMM)Wtsi HOM   Early adult 0.00
decreased NK cell number Arpc1btm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased mean platelet volume Arpc1btm1a(EUCOMM)Wtsi HOM   Early adult 1.73×10-05
increased CD103-positive CD11b-low dendritic cell number Arpc1btm1a(EUCOMM)Wtsi HOM   Early adult 0.00
fusion of vertebral arches Arpc1btm1a(EUCOMM)Wtsi HOM Early adult 3.70×10-05
increased KLRG1-positive T-helper cell number Arpc1btm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased CD4-positive, alpha-beta memory T cell number Arpc1btm1a(EUCOMM)Wtsi HOM Early adult 0.00
increased leukocyte cell number Arpc1btm1a(EUCOMM)Wtsi HOM Early adult 1.21×10-10
decreased KLRG1-positive NK cell number Arpc1btm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased red blood cell distribution width Arpc1btm1a(EUCOMM)Wtsi HOM Early adult 9.14×10-11
thrombocytosis Arpc1btm1a(EUCOMM)Wtsi HOM Early adult 8.11×10-05
decreased circulating fructosamine level Arpc1btm1a(EUCOMM)Wtsi HOM Early adult 1.84×10-13
increased memory CD4-positive, CD25-positive, alpha-beta regulatory T cell number Arpc1btm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased circulating total protein level Arpc1btm1a(EUCOMM)Wtsi HOM Early adult 1.54×10-06
increased plasma cell number Arpc1btm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased memory-marker NK cell number Arpc1btm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased KLRG1-positive CD4-positive, CD25-positive, alpha-beta regulatory T cell number Arpc1btm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased memory-marker CD4-negative NK T cell number Arpc1btm1a(EUCOMM)Wtsi HOM   Early adult 0.00
decreased mean corpuscular hemoglobin Arpc1btm1a(EUCOMM)Wtsi HOM Early adult 1.53×10-09
vertebral fusion Arpc1btm1a(EUCOMM)Wtsi HOM Early adult 1.10×10-05
increased circulating calcium level Arpc1btm1a(EUCOMM)Wtsi HOM Early adult 6.15×10-06
increased effector memory T-helper cell number Arpc1btm1a(EUCOMM)Wtsi HOM   Early adult 0.00
decreased transitional stage T2 B cell number Arpc1btm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased KLRG1+ CD4 alpha beta T cell number Arpc1btm1a(EUCOMM)Wtsi HOM Early adult 0.00
increased immature NK cell number Arpc1btm1a(EUCOMM)Wtsi HOM   Early adult 0.00
decreased macrophage cell number Arpc1btm1a(EUCOMM)Wtsi HOM   Early adult 0.00
decreased marginal zone precursor B cell number Arpc1btm1a(EUCOMM)Wtsi HOM   Early adult 0.00
decreased circulating alkaline phosphatase level Arpc1btm1a(EUCOMM)Wtsi HOM Early adult 5.58×10-05
decreased CD4-positive, alpha beta T cell number Arpc1btm1a(EUCOMM)Wtsi HOM Early adult 0.00
increased CD4-positive, CD25-positive, alpha-beta regulatory T cell number Arpc1btm1a(EUCOMM)Wtsi HOM   Early adult 0.00
decreased body length Arpc1btm1a(EUCOMM)Wtsi HOM Early adult 2.79×10-06
decreased circulating serum albumin level Arpc1btm1a(EUCOMM)Wtsi HOM   Early adult 5.84×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

X-ray

XRay Images Whole Body Lateral Orientation

17 Images

X-ray

XRay Images Skull Lateral Orientation

17 Images

X-ray

XRay Images Whole Body Dorso Ventral

17 Images

X-ray

XRay Images Forepaw

16 Images

Histopathology

Images

9 Images

Eye Morphology

Images Slit Lamp

1 Images

Eye Morphology

Images Ophthalmoscopy

1 Images

Legacy Phenotype Associated Images

View all 69 images

Human diseases caused by Arpc1b 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 Arpc1b by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume OMIM:617718

The table below shows human diseases predicted to be associated to Arpc1b by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 69
Increased circulating ferritin concentration, Thrombocytosis, Leukocytosis, Pancytopenia, Anemia,... OMIM:618963
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly OMIM:618261
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Pancytopenia, Reduced natural killer cell count, Th... OMIM:616050
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Salmonella osteomyelitis, Histiocytosis, Hypoalbuminemia, Anemia, S... OMIM:209950
Immunodeficiency 20
Reduced natural killer cell count OMIM:615707
Immunodeficiency 8
Lymphopenia OMIM:615401
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Thrombocytosis, Abnormal erythrocyte morphology, Bone marrow hypocellularit... ORPHA:86841
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Megaloblastic anemia, Lymphopenia, Septic arthritis, Pancytopenia, Anemia of inad... OMIM:617780
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Thrombocytosis, Microcytic anemia, Pancytopenia, Arthritis, Elevated circulating C-reactive prote... OMIM:604416
Juvenile Arthritis
Leukocytosis, Thrombocytosis OMIM:618795
Immunodeficiency 40
Lymphopenia OMIM:616433
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, Thrombocytosis, Leukocytosis, Polyarticular arthritis, B lymphocytopenia, Neutrophilia OMIM:619281
Sickle Cell Anemia
Iron deficiency anemia, Osteoporosis, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chron... ORPHA:232
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, T lymphocytopenia, Impaired lymphocyte transformati... OMIM:619313
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... OMIM:202700
Immunodeficiency 54
Adrenocorticotropic hormone excess, Adrenal insufficiency, Reduced natural killer cell count, Hyp... OMIM:609981
Immunodeficiency 57 With Autoinflammation
T lymphocytopenia, Perianal abscess, Reduced natural killer cell count, B lymphocytopenia OMIM:618108
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia, Lymphopenia ORPHA:1116
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Lymphangiectasia, Intestinal
Lymphopenia, Neonatal hypoproteinemia OMIM:152800
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Chronic hemolytic anemia, Reticulocytosis, Increase... ORPHA:766
Refractory Celiac Disease
Iron deficiency anemia, Osteoporosis, Hypocalcemia, Hypoproteinemia, Hypophosphatemia, Microcytic... ORPHA:398063
Leishmaniasis
Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia, Splenomegaly, Hypoalbuminemia, An... ORPHA:507
Immunodeficiency 19
Lymphopenia OMIM:615617
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia OMIM:619398
Histiocytosis, Familial Lipochrome
Polyarticular arthritis, Histiocytosis, Increased alpha-globulin OMIM:235900
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Leukocytosis, Increased hemoglobin, Thrombocytopenia, Incre... OMIM:263300
Immunodeficiency 24
Reduced proportion of mucosal-associated invariant T cells, Lymphopenia, Decreased CD4:CD8 ratio,... OMIM:615897
Nephrotic Syndrome, Type 14
Hypothyroidism, Lymphopenia, Hypoglycemia, Hypertriglyceridemia, Adrenal insufficiency, Hypoalbum... OMIM:617575
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia, Lymphopenia OMIM:207731
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Cutaneous abscess, Decreased proportion of C... OMIM:618204
Omenn Syndrome
Severe B lymphocytopenia, Hypoproteinemia, Thrombocytopenia, Hypoplasia of the thymus, B lymphocy... OMIM:603554
Congenital Amegakaryocytic Thrombocytopenia
Scoliosis, Abnormal form of the vertebral bodies, Thrombocytopenia, Anemia, Decreased skull ossif... ORPHA:3319
Thrombocythemia 2
Thrombocytosis OMIM:601977
Macrothrombocytopenia and progressive sensorineural deafness
Thrombocytopenia, Giant platelets, Macrothrombocytopenia OMIM:600208
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies, Giant platelets OMIM:155100
Bleeding Disorder, Platelet-Type, 24
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Inc... OMIM:619271
Multiple Myeloma
Elevated circulating creatinine concentration, Bone pain, Hyperproteinemia, Pathologic fracture, ... ORPHA:29073
Sebastian syndrome
Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies, Giant platelets OMIM:605249
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Lymphopenia, Joint stiffness, Elevated circulating C-reactive protein concentrati... OMIM:615934
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Anemia, ... OMIM:187800
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Neutropenia, Hypoalbuminemia OMIM:600351
Secondary Intestinal Lymphangiectasia
Hypocalcemia, Lymphopenia, Hypoproteinemia, Arthritis ORPHA:90363
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia, Anemia OMIM:603278
Pelger-Huet Anomaly
Abnormality of neutrophils, Kyphosis, Hyposegmentation of neutrophil nuclei, Neutropenia, Thrombo... OMIM:169400
Cernunnos-Xlf Deficiency
T lymphocytopenia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia ORPHA:169079
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Leukocytosis, Bone pain, Thrombocytopenia, Acute myel... ORPHA:86839
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Hypercalcemia, Anemia ORPHA:2123
Fechtner syndrome
Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies, Giant platelets OMIM:153640
Myh9-Related Disease
Congenital thrombocytopenia, Giant platelets, Increased mean platelet volume, Neutrophil inclusio... ORPHA:182050
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Eosinophilic Gastroenteritis
Leukocytosis, Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Anemia, Eos... ORPHA:2070
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hemophagocytosis, Increased total bilirubin, Hypopr... OMIM:267700
Rhabdoid Tumor
Thrombocytopenia, Hypercalcemia, Anemia ORPHA:69077
Slc35A1-Cdg
Thrombocytopenia, Giant platelets, Neutropenia, Abnormal platelet granules ORPHA:238459
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Decreased proportion of CD4-positive helper T cells... ORPHA:276
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Reduced natural killer cell count OMIM:242860
Primary Myelofibrosis
Thrombocytosis, Leukocytosis, Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Anemi... ORPHA:824
Hermansky-Pudlak Syndrome 2
Albinism, Neutropenia, Ocular albinism, Fair hair, Thrombocytopenia, Reduced natural killer cell ... OMIM:608233
Sitosterolemia 1
Impaired platelet aggregation, Hypercholesterolemia, Episodic hemolytic anemia, Chronic hemolytic... OMIM:210250
Thrombocythemia 1
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet ... OMIM:187950
Congenital Enterovirus Infection
Leukocytosis, Abnormal macrophage morphology, Neutropenia, Thrombocytopenia, Hypoalbuminemia, Ane... ORPHA:292
Congenital Disorder Of Glycosylation, Type Ih
Camptodactyly, Thrombocytopenia, Hypoalbuminemia, Anemia, Short neck OMIM:608104
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Anisocytosis, Splenomegaly, Anemia, Anemia of inadequate ... OMIM:615631
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Primary Intestinal Lymphangiectasia
Iron deficiency anemia, Hypocalcemia, Osteoporosis, Hypoproteinemia, Lymphopenia, Hypoalbuminemia ORPHA:90362
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Anisocytosis, Splenomegaly, Un... OMIM:300908
Hypophosphatasia
Hypercalcemia, Craniosynostosis, Recurrent fractures, Anemia ORPHA:436
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Immunodeficiency 68
T lymphocytopenia, Abnormal natural killer cell count, Septic arthritis, B lymphocytopenia, Abscess OMIM:612260
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells OMIM:615607
Rajab Interstitial Lung Disease With Brain Calcifications 2
Scoliosis, Joint hypermobility, Microcytic anemia, Hypothyroidism, Hypopituitarism, Hypertriglyce... OMIM:619013
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Anisocytosis, Spleno... OMIM:224120
Immunodeficiency 72 With Autoinflammation
Increased proportion of memory T cells, Hepatosplenomegaly, Increased B cell count OMIM:618982
Papular Xanthoma
Histiocytosis ORPHA:158008
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Bernard-Soulier Syndrome
Thrombocytopenia, Impaired ristocetin-induced platelet aggregation, Giant platelets OMIM:231200
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of class-switched memory B cells, Increased proportion autoreactive unrespon... OMIM:615559
Dengue Fever
Thrombocytopenia, Hypoproteinemia, Leukopenia ORPHA:99828
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Hypothyroidism, Hyperbilirubinemia, Hyponatremia, Neutrope... ORPHA:1667
X-Linked Lymphoproliferative Disease
Increased proportion of CD25+ mast cells, Lymphocytosis, T lymphocytopenia, Hemophagocytosis, Inc... ORPHA:2442
Thrombocythemia 3
Thrombocytosis OMIM:614521
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hemophagocytosis, Increased total bilirubin, Hypopr... OMIM:603553
Pgm3-Cdg
T lymphocytopenia, Abnormal CD4:CD8 ratio, Cutaneous abscess, Hemolytic anemia, Decreased proport... ORPHA:443811
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Bone cyst, Hypercalcemia, Hyperparathyroidism, Anemia ORPHA:2668
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells OMIM:312863
Albers-Schönberg Osteopetrosis
Genu valgum, Hypocalcemia, Recurrent fractures, Generalized osteosclerosis, Bone pain, Mandibular... ORPHA:53
Hypophosphatasia, Infantile
Platyspondyly, Craniosynostosis, Elevated plasma pyrophosphate, Decreased calvarial ossification,... OMIM:241500
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hypochromia, Conjugated hyperbilirubinemia, Erythro... OMIM:616860
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphol... OMIM:300835
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Avian Influenza
Lymphopenia, Thrombocytopenia, Elevated circulating C-reactive protein concentration, Hypoalbumin... ORPHA:454836
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia OMIM:618987
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume OMIM:617718
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Lymphopenia, Neutropenia OMIM:614868
Eosinophilia, Familial
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia OMIM:131400
Insulin-Resistance Syndrome Type B
Hyperinsulinemic hypoglycemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Leukope... ORPHA:2298
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly OMIM:619164
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Limitation of joint mobility, Eosinophilia, Arthritis ORPHA:2582
Late-Onset Isolated Acth Deficiency
Vitiligo, Generalized bone demineralization, Adrenocorticotropin deficient adrenal insufficiency,... ORPHA:199299
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Mucopolysaccharidosis-Plus Syndrome
Flexion contracture, Neutropenia, Thrombocytopenia, Splenomegaly, Acetabular dysplasia, Hypoalbum... OMIM:617303
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Lymphopenia, Neutropenia, Hyperpigmentation of the ... OMIM:604250
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Hyperlordosis, Decreased proportion of CD4-positive helper T cells, Abnormal T cell subset distri... ORPHA:221139
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Microcytic anemia OMIM:618805
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Hypoproteinemia, Thrombocytosis, Hypoalbuminemia OMIM:226300
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Acute Peripheral Arterial Occlusion
Leukocytosis, Lower limb pain, Limb pain ORPHA:90064
Iron-Refractory Iron Deficiency Anemia
Hypochromic microcytic anemia, Elevated hepcidin level, Anisocytosis, Poikilocytosis OMIM:206200
Amoebiasis Due To Entamoeba Histolytica
Lung abscess, Leukocytosis, Hypoalbuminemia, Anemia, Liver abscess ORPHA:67
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Splenomegaly, Anemia, Abnormal platelet function, Abnormal hemoglobin ORPHA:231393
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hemophagocytosis, Neutropenia, Thrombocytopenia, Hy... ORPHA:540
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
T lymphocytopenia, Splenomegaly OMIM:608971
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Thrombocytosis, Leukocytosis, Lymphopenia, Pancytopenia, Splenomegaly, Elevated circulating C-rea... OMIM:615688
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
T lymphocytopenia, Absent natural killer cells, Lymphopenia, Impaired lymphocyte transformation w... ORPHA:35078
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, B lymphocytopenia, Arthritis OMIM:601457
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Splenome... ORPHA:444463
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
T lymphocytopenia, Lymphopenia, Absent natural killer cells, Impaired lymphocyte transformation w... OMIM:600802
Beta-Ketothiolase Deficiency
Leukocytosis, Hyperammonemia, Thrombocytosis, Hyperuricemia ORPHA:134
Obesity Due To Congenital Leptin Deficiency
Accelerated skeletal maturation, Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypo... ORPHA:66628
Griscelli Syndrome, Type 2
Hemophagocytosis, Melanin pigment aggregation in hair shafts, Silver-gray hair, Accumulation of m... OMIM:607624
Acute Myelomonocytic Leukemia
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia ORPHA:517
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly OMIM:606445
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia OMIM:616941
Mastocytosis
Osteoporosis, Abnormality of skin pigmentation, Chronic leukemia, Recurrent fractures, Hypercalce... ORPHA:98292
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Decreased proportion of CD3-positive T cells, Lymphopenia, Abnormal ... ORPHA:331206
Syndromic Diarrhea
Thrombocytosis, Abnormality of iron homeostasis, Lymphopenia, Increased mean platelet volume, Hyp... ORPHA:84064
Obesity Due To Leptin Receptor Gene Deficiency
Accelerated skeletal maturation, Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypo... ORPHA:179494
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Immunodeficiency 31C
Autoimmune hemolytic anemia, Hypothyroidism, Lymphopenia, Delayed puberty, Osteopenia, Diabetes m... OMIM:614162
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Vacuolated lymphocytes, Large clumps of pigment irr... ORPHA:167
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Hyperbilirubinemia, Abnormal erythrocyte morphology, Aniso... ORPHA:98870
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Hypertriglyceridemia, Granulocytopenia, Anemia, Hepatosplenomegaly OMIM:608898
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Lymphopenia OMIM:247630
Ulna Metaphyseal Dysplasia Syndrome
Delayed skeletal maturation, Hypercalcemia, Abnormality of the vertebral column, Wrist pain OMIM:191420
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Iron deficiency anemia, Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T... ORPHA:37042
Hemorrhagic Fever-Renal Syndrome
Thrombocytopenia, Hypoproteinemia, Leukocytosis ORPHA:340
Neuroleptic Malignant Syndrome
Hypocalcemia, Thrombocytosis, Leukocytosis, Hypernatremia, Hyponatremia, Hyperuricemia, Elevated ... ORPHA:94093
Immunodeficiency 13
T lymphocytopenia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD... OMIM:615518
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Lymphopenia, Increased proportion ... OMIM:617514
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
3-Hydroxy-3-Methylglutaric Aciduria
Thrombocytosis, Leukocytosis, Hyperuricemia, Anemia, Leukopenia, Hyperammonemia ORPHA:20
Immunodeficiency 21
Myeloid leukemia, Monocytopenia, Abnormal natural killer cell morphology, Lymphopenia, Neutropeni... OMIM:614172
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Reduced bone mineral density, Splenomegaly, Abnormal thrombocyte morphology, Delaye... ORPHA:172
Familial Cold Autoinflammatory Syndrome 2
Lower limb pain, Leukocytosis, Elevated circulating C-reactive protein concentration, Splenomegal... OMIM:611762
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Elevated circulating creatinine concentration, Increased circulating metamyelocyte ... ORPHA:36234
Alpha-Heavy Chain Disease
Hypocalcemia, Anemia, Splenomegaly ORPHA:100025
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Lymphopenia, B lymphocytopenia ORPHA:277
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Pancytope... OMIM:614470
Acquired Partial Lipodystrophy
Lymphocytosis, Insulin resistance ORPHA:79087
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis OMIM:247800
Trichohepatoenteric Syndrome 1
Thrombocytosis, Abnormality of iron homeostasis, Hypermethioninemia, Increased mean platelet volu... OMIM:222470
Niemann-Pick Disease, Type B
Bone-marrow foam cells, Sea-blue histiocytosis, Hypertriglyceridemia, Splenomegaly, Increased LDL... OMIM:607616
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Kyphosis, Flexion contracture, Hypocholesterolemia, Hypoalbuminemia, Osteopenia OMIM:212065
Addison Disease
Vitiligo, Generalized bone demineralization, Hyperuricemia, Delayed puberty, Hypercalcemia, Decre... ORPHA:85138
Reticular Dysgenesis
Congenital agranulocytosis, Lymphopenia, Leukopenia, Hypoplasia of the thymus OMIM:267500
Mu-Heavy Chain Disease
Osteoporosis, Osteolysis, Abnormal B cell count, Anemia, Splenomegaly ORPHA:100024
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Short neck, Thoracic kyphosis, Flexion contracture, Lumbar kyphosis, Thrombocytopenia, Lumbar hyp... ORPHA:505248
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Neutropenia, Thrombocytopenia, Hy... OMIM:603552
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Ménétrier Disease
Hypochromic microcytic anemia, Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume,... OMIM:618849
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Extramedullary hematopoiesis, Hyperbilirubinemia, Osteopetrosis, Pancytopenia, Thro... OMIM:259720
Cinca Syndrome
Leukocytosis, Patellar overgrowth, Elevated circulating C-reactive protein concentration, Anemia,... OMIM:607115
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased proportion of... OMIM:615513
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Lathosterolosis
Osteoporosis, Lumbosacral meningocele, Abnormal circulating cholesterol concentration, Hyperbilir... OMIM:607330
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Osteoporosis, Hypocalcemia, Thrombocytosis, Rickets, Macrocytic anemia OMIM:212750
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Stomatocytosis, Splenomegaly OMIM:153670
Takenouchi-Kosaki Syndrome
Thrombocytopenia, Scoliosis, Camptodactyly, Increased mean platelet volume OMIM:616737
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Insulin resistance, Hypertriglyceridemia, Splenomegaly, Hepat... OMIM:612526
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Thrombocytopenia, Hyperbilirubinemia, Hypoalbuminemia, Splenomegaly OMIM:251880
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
X-Linked Agammaglobulinemia
Hypocalcemia, Neutropenia, Thrombocytopenia, Recurrent cutaneous abscess formation, Anemia, Osteo... ORPHA:47
Leptospirosis
Thrombocytopenia, Hyperproteinemia ORPHA:509
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia, Craniosynostosis, Sandwich appearance of vertebral bodies, Osteopetrosis, Increased... OMIM:259700
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Craniosynostosis, Increased blood urea nitrogen, Recurrent fractures, ... ORPHA:251004
Analbuminemia
Osteoporosis, Hypercholesterolemia, Elevated circulating transferrin concentration, Hypoalbuminem... OMIM:616000
Autoerythrocyte Sensitization Syndrome
Thrombocytosis, Impaired platelet adhesion, Joint hemorrhage, Autoimmune thrombocytopenia, Abnorm... ORPHA:324636
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteolysis, Joint swelling, Periostitis, Fused cervical vertebrae, Elevated circulating C-reactiv... OMIM:612852
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Recurrent fractures, Calcinosis, Hypercalcemia, Anemia, Splenomegaly OMIM:239200
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia OMIM:616176
Dominant Beta-Thalassemia
Osteoporosis, Hypochromic microcytic anemia, Genu valgum, Abnormality of iron homeostasis, Decrea... ORPHA:231226
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomega... OMIM:150550
Familial Cold Autoinflammatory Syndrome 1
Leukocytosis, Elevated circulating C-reactive protein concentration, Arthritis OMIM:120100
Acute Adrenal Insufficiency
Androgen insufficiency, Vitiligo, Adrenal hypoplasia, Primary adrenal insufficiency, Decreased ci... ORPHA:95409
Oculoskeletodental Syndrome
Scoliosis, Hypocalcemia, Thoracic kyphosis, Hypothyroidism, Hypercalcemia, Splenomegaly, Elbow fl... OMIM:618440
Autoinflammatory Syndrome, Familial, Behcet-Like
Thrombocytopenia, Polyarticular arthritis, Lymphopenia, Hemolytic anemia OMIM:616744
Blackfan-Diamond Anemia
Elevated red cell adenosine deaminase level, Erythroid hypoplasia, Pure red cell aplasia, Thrombo... ORPHA:124
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Decreased proportion of memory B cells, Abnormal natural killer cell count, Pa... ORPHA:79124
Cogan Syndrome
Leukocytosis, Thrombocytosis, Anemia ORPHA:1467
Brucellosis
Lung abscess, Osteomyelitis, Thrombocytosis, Leukocytosis, Hip osteoarthritis, Granuloma, Septic ... ORPHA:1304
Congenital Erythropoietic Porphyria
Osteoporosis, Osteolysis, Hemolytic anemia, Increased erythrocyte protoporphyrin concentration, R... ORPHA:79277
Wiskott-Aldrich Syndrome, Autosomal Dominant
Iron deficiency anemia, Decreased mean platelet volume, Hemolytic anemia, Lymphopenia, Thrombocyt... OMIM:600903
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Autoimmune thromb... ORPHA:169154
Chronic Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypoalbuminemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypoalbuminemia ORPHA:529799
Schnitzler Syndrome
Leukocytosis, Bone pain, Increased bone mineral density, Anemia, Splenomegaly, Arthritis ORPHA:37748
Poems Syndrome
Thrombocytosis, Sclerosis of hand bone, Polycythemia, Sclerotic vertebral endplates, Sclerosis of... ORPHA:2905
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Decreased proportion of CD4-positive helper T cells, Decreased proporti... OMIM:617241
Retinitis Pigmentosa And Erythrocytic Microcytosis
Elliptocytosis, Anisocytosis, Decreased serum iron, Anemia, Decreased mean corpuscular volume, Po... OMIM:616959
Beta-Thalassemia
Abnormality of iron homeostasis, Microcytic anemia, Thrombocytopenia, Reduced bone mineral densit... ORPHA:848
Muckle-Wells Syndrome
Leukocytosis, Polyarticular arthritis, Elevated circulating C-reactive protein concentration OMIM:191900
Fibrous Dysplasia Of Bone
Scoliosis, Elevated circulating growth hormone concentration, Increased circulating cortisol leve... ORPHA:249
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia ORPHA:26137
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Congenital hypothyroidism, Craniosynostosis, Hypoalbuminemia ORPHA:88643
Adamantinoma
Pathologic fracture, Hypercalcemia, Bone pain ORPHA:55881
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Wiskott-Aldrich Syndrome
Iron deficiency anemia, Decreased mean platelet volume, Decreased proportion of CD8-positive T ce... OMIM:301000
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hemophagocytosis, Thrombocytopenia, Hypertriglyceri... OMIM:613101
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Hepatocellular Carcinoma
Thrombocytosis, Polycythemia, Hyperbilirubinemia, Hyponatremia, Bone pain, Thrombocytopenia, Hypo... ORPHA:88673
Immunodeficiency, Common Variable, 13
Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Multicentric Reticulohistiocytosis
Histiocytosis, Arthritis ORPHA:139436
Pancytopenia And Occlusive Vascular Disease
Thrombocytopenia, Leukopenia, Pancytopenia, Anemia OMIM:167850
Infantile Myofibromatosis
Osteolysis, Irregular hyperpigmentation, Chondrocalcinosis, Bone cyst, Hypercalcemia, Limitation ... ORPHA:2591
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Kyphosis, Short neck, Fused cervical vertebrae, Abnormal reticulocyte morphology ORPHA:2522
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Chondrocalcinosis, Parathyroid adenoma, Generalized osteoporosis, Hypercalcemia... ORPHA:99879
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, B lymphocytopenia ORPHA:217390
Rajab Interstitial Lung Disease With Brain Calcifications 1
Scoliosis, Hypocalcemia, Joint laxity, Rickets, Pancytopenia, Reduced bone mineral density, Hypoa... OMIM:613658
Sea-Blue Histiocyte Disease
Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase level, Thrombocytosis, Hypoplastic coccygeal vertebrae, Con... OMIM:105650
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... ORPHA:231154
Generalized Eruptive Histiocytosis
Spotty hyperpigmentation, Histiocytosis, Leukemia, Hypereosinophilia ORPHA:157991
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Beta-Thalassemia Intermedia
Osteoporosis, Abnormality of iron homeostasis, Persistence of hemoglobin F, Leukocytosis, Extrame... ORPHA:231222
Hyperparathyroidism 4
Osteopenia, Hypercalcemia, Primary hyperparathyroidism, Parathyroid carcinoma OMIM:617343
Idiopathic Hypereosinophilic Syndrome
Thrombocytosis, Joint swelling, Leukocytosis, Thrombocytopenia, Ankle swelling, Anemia, Splenomeg... ORPHA:3260
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Galloway-Mowat Syndrome 6
Hypothyroidism, Hypoalbuminemia, Delayed skeletal maturation, Decreased response to growth hormon... OMIM:618347
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Johanson-Blizzard Syndrome
Hypoproteinemia, Delayed skeletal maturation, Anemia ORPHA:2315
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hypoalbuminemia, Hyperlipidemia OMIM:615863
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Hypophosphatemia, Hypocalcemia, Rickets, Tooth abscess, Bone pain, Osteom... ORPHA:89937
Cinca Syndrome
Delayed closure of the anterior fontanelle, Abnormality of neutrophils, Leukocytosis, Abnormal gr... ORPHA:1451
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Abetalipoproteinemia
Abnormality of retinal pigmentation, Hypotriglyceridemia, Reticulocytosis, Hypothyroidism, Hyperb... ORPHA:14
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Scoliosis, Hyperlordosis, Kyphosis, Achilles tendon contracture, Vertebral fusion, Elevated circu... OMIM:606612
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hyperthreoninemia, Abnormal cir... ORPHA:247598
Acute Monoblastic/Monocytic Leukemia
Lymphocytosis, Hypochromic anemia, Acute monocytic leukemia, Leukocytosis, Ankle swelling, Anemia ORPHA:514
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Scoliosis, Abnormal macrophage morphology, Achilles tendon contracture, Lumbar hyperlordosis, Ele... ORPHA:353
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Delayed closure of the anterior fontanelle, Decreased skull ossification, Anemia, H... OMIM:244460
Transcobalamin Deficiency
Thrombocytopenia, Lymphopenia, Pancytopenia, Neutropenia ORPHA:859
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Hemivertebrae, Vertebral fusion, Abnormality of the odontoid process, Kyphoscoliosis, ... OMIM:277300
Unclassified Myelodysplastic Syndrome
Leukocytosis, Acute myeloid leukemia, Bone marrow hypocellularity ORPHA:98827
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:611926
Familial Thrombocytosis
Acute myeloid leukemia, Chronic myelogenous leukemia, Thrombocytosis, Splenomegaly ORPHA:71493
Hypophosphatemic Rickets
Hypophosphatemia, Parathyroid hyperplasia, Rickets, Periapical tooth abscess, Tooth abscess, Cran... ORPHA:437
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Pseudo-Torch Syndrome 3
Leukocytosis, Congenital thrombocytopenia, Increased circulating ferritin concentration, Anemia OMIM:618886
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Elliptocytosis, Reticulocytosis, Anisocytosis, Decreased mean corpuscul... OMIM:618278
Noonan Syndrome 12
Thrombocytopenia, Lymphopenia, Spinal canal stenosis OMIM:618624
Fanconi Anemia, Complementation Group I
Hypothyroidism, Neutropenia, Fused cervical vertebrae, Cafe-au-lait spot, Short neck, Bone marrow... OMIM:609053
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
T lymphocytopenia, Monocytopenia, Lymphopenia, Abnormally low T cell receptor excision circle lev... OMIM:618986
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Craniosynostosis, Hyperpigmentation of the skin, Hypoalbuminemia, Anemia, Generalized reticulate ... ORPHA:79396
Thymic Neuroendocrine Tumor
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Neuroendocrine neoplasm, ... ORPHA:97289
Hypervitaminosis A, Susceptibility To
Lower limb pain, Hypercalcemia OMIM:240150
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Giant platelets, Decreased platelet glycoprotei... ORPHA:274
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia, Delayed skeletal maturation, Decreased response to growth hormone stimuation test,... OMIM:614732
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased plasma carnitine, Flexion contracture, Decreased serum iron, Decreased serum zinc, Hypo... ORPHA:89842
Oculocerebrodental Syndrome
Scoliosis, Hyperlordosis, Hypocalcemia, Thoracic kyphosis, Hypercalcemia, Delayed skeletal matura... ORPHA:557003
Relapsing Fever
Increased total bilirubin, Leukocytosis, Elevated circulating creatinine concentration, Thrombocy... ORPHA:91547
Immunodeficiency 70
Decreased proportion of CD4-positive helper T cells, B lymphocytopenia OMIM:618969
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Leukocytosis, Hypochromic anemia, Thrombocytosis, Perianal abscess OMIM:618213
Ataxia-Pancytopenia Syndrome
Abnormal platelet function, Abnormality of neutrophils, Abnormal macrophage morphology, Acute mye... ORPHA:2585
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Osteopetrosis, Anemia, Splenomegaly, Abnormal thrombo... OMIM:612840
Purine Nucleoside Phosphorylase Deficiency
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Hypouricemia, Decreased proportion of C... ORPHA:760
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia, Hepatosplenomegaly, Flexion contracture ORPHA:367
Acute Panmyelosis With Myelofibrosis
Lymphocytosis, Myelofibrosis, Low back pain, Acute myelomonocytic leukemia, Pancytopenia, Acute m... ORPHA:86843
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypoglycemia OMIM:617156
Vipoma
Increased circulating gonadotropin level, Elevated circulating growth hormone concentration, Incr... ORPHA:97282
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia, Short neck, Splenomegaly OMIM:235255
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Glucose intolerance, Neonatal hyp... ORPHA:552
Congenital Disorder Of Glycosylation, Type Iif
Thrombocytopenia, Decreased platelet glycoprotein Ib, Neutropenia, Macrothrombocytopenia OMIM:603585
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
B lymphocytopenia, Decreased proportion of memory B cells ORPHA:70593
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimm... OMIM:618534
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, Autoimmune thrombocytopenia, Autoimmune hemolytic a... OMIM:613011
Colchicine Poisoning
Hypophosphatemia, Hypocalcemia, Leukocytosis, Hyponatremia, Abnormal blood ion concentration, Hyp... ORPHA:31824
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Neutropenia, Pancytopenia, Thrombocytopenia, Aplastic anemia, Sp... OMIM:308240
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Thrombocytopenia, Hyponatremia, Leukocytosis ORPHA:83601
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia, Anemia OMIM:174900
Al Amyloidosis
Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Hypoalbuminemia, Anemia ORPHA:85443
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia, Abnormal hemoglobin ORPHA:846
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Scoliosis, Hypercholesterolemia, Hypoalbuminemia OMIM:208920
Herpes Simplex Virus Encephalitis
Neutrophilia, Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis ORPHA:1930
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, B lymphocytopenia, Neutropenia in presence... OMIM:607594
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Joint swelling, Leukocytosis, Increased proportion of CD4-positive T cells, Elevated circulating ... OMIM:617099
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Autoimm... ORPHA:911
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Platyspondyly, Aplasia of the thymus, Autoimmune thrombocytopenia, Auto... OMIM:102700
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Pyrimidine-responsive megalo... OMIM:258900
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Psoriasis 14, Pustular
Leukocytosis, Polyarticular arthritis, Elevated circulating C-reactive protein concentration, Oli... OMIM:614204
Schimke Immunoosseous Dysplasia
Platyspondyly, Thoracic kyphosis, Lymphopenia, Ovoid vertebral bodies, Elevated circulating thyro... OMIM:242900
Griscelli Syndrome Type 2
Hemophagocytosis, Iris hypopigmentation, Hypopigmentation of hair, Premature graying of hair, Neu... ORPHA:79477
Agammaglobulinemia 1, Autosomal Recessive
B lymphocytopenia, Neutropenia OMIM:601495
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Scoliosis, Camptodactyly, Flexion contracture, Increased mean platelet volume, Thrombocytopenia ORPHA:487796
Adult-Onset Still Disease
Joint swelling, Leukocytosis, Abnormal circulating lipid concentration, Elevated circulating C-re... ORPHA:829
Somatostatinoma
Hypochromic microcytic anemia, Increased circulating gonadotropin level, Elevated circulating gro... ORPHA:97283
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Severe B lymphocytopenia, Decreased circulating ACTH level, Adrenocorticotropin deficient adrenal... ORPHA:293978
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Autoimmune hemolytic anemia, Abnormally lo... OMIM:619374
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypothyroidism, Hypoinsulinemia, Diabeti... ORPHA:99886
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral fusion, Vertebral segmentation defect OMIM:221950
Adult Idiopathic Neutropenia
Monocytosis, Monocytopenia, Neutropenia, Lymphopenia ORPHA:2688
Chylomicron Retention Disease
Hypotriglyceridemia, Steatorrhea, Hypocholesterolemia, Decreased LDL cholesterol concentration, H... OMIM:246700
Thrombocytopenia 1
Joint hemorrhage, Decreased mean platelet volume, Intermittent thrombocytopenia, Congenital throm... OMIM:313900
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Hermansky-Pudlak Syndrome 9
Thrombocytopenia, Ocular albinism, Leukopenia, Hypopigmentation of the skin OMIM:614171
Glucagonoma
Increased circulating gonadotropin level, Elevated circulating growth hormone concentration, Incr... ORPHA:97280
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... ORPHA:293964
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia, Flexion contracture, Spinal rig... OMIM:615883
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia, Short neck, Splenomegaly, Hepatosplenomegaly ORPHA:1655
Immunodeficiency By Defective Expression Of Mhc Class Ii
T lymphocytopenia, Abnormal CD4:CD8 ratio, Autoimmune thrombocytopenia, Decreased circulating bet... ORPHA:572
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Parathyroid hyperplasia, Metacarpal periosteal thickening, Hypercalcemia, Elevated circulating pa... OMIM:617994
Sarcoidosis
Hemolytic anemia, Increased T cell count, Joint swelling, Hypothyroidism, Bone cyst, Hyperthyroid... ORPHA:797
Aggressive Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Osteoporosis, Osteolysis, Leukocytosis, Neutropenia, Bo... ORPHA:98850
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia, Elevated circulating parathyroid hormone level, Genu varum, Osteo... OMIM:619073
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia, Hypoalbuminemia OMIM:602579
Progressive Multifocal Leukoencephalopathy
Abnormal proportion of CD4-positive T cells, Decreased proportion of CD8-positive T cells ORPHA:217260
Nephrotic Syndrome, Type 1
Hypothyroidism, Hypoproteinemia, Hypoalbuminemia, Hyperlipidemia OMIM:256300
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Parathyroid hyperplasia, Rickets, Hypophosphatemic rickets, Bone pain, Hypercal... OMIM:612089
Leukocyte Adhesion Deficiency
Impaired platelet aggregation, Thrombocytosis, Leukocytosis, Polycythemia, Impaired neutrophil ch... ORPHA:2968
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Gorlin Syndrome
Scoliosis, Melanocytic nevus, Hemivertebrae, Vertebral fusion, Hypogonadotropic hypogonadism, Ver... ORPHA:377
Macrocephaly/Autism Syndrome
Lymphopenia, Splenomegaly OMIM:605309
Ring Chromosome 21 Syndrome
Scoliosis, Fused thoracic vertebrae, Thoracic hemivertebrae, Multiple cafe-au-lait spots, Diabete... ORPHA:1445
Hyperparathyroidism 1
Hypercalcemia, Primary hyperparathyroidism OMIM:145000
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypomagnesemia, Hypocalcemia, Hypokalemia, Anemia OMIM:175500
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, T lymphocytopenia, Impaired lymphocyte transformation with phytohemaggl... OMIM:300400
Cryptogenic Organizing Pneumonia
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis ORPHA:1302
Autoimmune Lymphoproliferative Syndrome
Coombs-positive hemolytic anemia, Lymphocytosis, Elevated proportion of CD4-negative, CD8-negativ... ORPHA:3261
Spondylocostal Dysostosis 4, Autosomal Recessive
Hemivertebrae, Vertebral fusion, Abnormality of the odontoid process, Spina bifida occulta, Block... OMIM:613686
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Thrombocytopenia, Bone marrow hypocellularity, Abnormal neutrophil count, Splenomeg... ORPHA:3226
Multiple Synostoses Syndrome 2
Humeroradial synostosis, Tarsal synostosis, Proximal symphalangism, Vertebral fusion, Finger symp... OMIM:610017
Spondyloenchondrodysplasia With Immune Dysregulation
Scoliosis, T lymphocytopenia, Platyspondyly, Vitiligo, Hypopigmented skin patches on arms, Joint ... OMIM:607944
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Pathologic fracture, Hypercalcemia, Hip contracture, Knee flexion contracture, ... OMIM:156400
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Impaired oxidative burst, Abnormally low T cell receptor excision circle level, Imp... OMIM:608203
Cartilage-Hair Hypoplasia
Scoliosis, Joint hypermobility, Limited elbow extension, Impaired lymphocyte transformation with ... OMIM:250250
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Scoliosis, Multiple pterygia, Arthrogryposis multiplex congenita, Craniosynostosis, Tarsal synost... OMIM:178110
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Hypocalcemic Vitamin D-Resistant Rickets
Scoliosis, Genu valgum, Hypocalcemia, Osteolysis, Hypophosphatemia, Abnormal form of the vertebra... ORPHA:93160
Tularemia
Cutaneous abscess, Leukocytosis, Thrombocytopenia, Anemia, Brain abscess ORPHA:3392
Brachydactyly, Type B1
Hypoplastic sacrum, Camptodactyly, Hemivertebrae, Vertebral fusion, Delayed cranial suture closur... OMIM:113000
Kbg Syndrome
Scoliosis, Thoracic kyphosis, Persistent open anterior fontanelle, Vertebral fusion, Short neck, ... ORPHA:2332
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Acute hyperammonemia, Hypertriglyceridemia, Hypoalbuminemi... ORPHA:247585
Thrombocytopenia-Absent Radius Syndrome
Leukocytosis, Carpal bone hypoplasia, Carpal synostosis, Thrombocytopenia, Patellar aplasia, Anem... OMIM:274000
Purine Nucleoside Phosphorylase Deficiency
Pure red cell aplasia, Increased circulating guanosine concentration, Autoimmune thrombocytopenia... OMIM:613179
Thrombocytopenia-Absent Radius Syndrome
Scoliosis, Fused cervical vertebrae, Thrombocytopenia, Aplasia/Hypoplasia of the patella, Genu va... ORPHA:3320
Non-Functioning Paraganglioma
Paraganglioma, Hypercalcemia, Paraganglioma of head and neck ORPHA:94080
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hemophagocytosis, Pancytopenia, Hypertriglyceridemi... OMIM:618398
Diffuse Alveolar Hemorrhage
Thrombocytopenia, Elevated circulating creatinine concentration, Anemia, Leukocytosis ORPHA:90060
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD2... OMIM:606367
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Flexion contracture, Thrombocytopenia, Hypertriglyceridemia, Anemia, Splenomegaly, A... OMIM:617591
Immunodeficiency 49
Wormian bones, Lymphopenia, Eosinophilia OMIM:617237
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Ivic Syndrome
Scoliosis, Radioulnar synostosis, Synostosis of carpal bones, Leukocytosis, Thrombocytopenia, Joi... ORPHA:2307
Cartilage-Hair Hypoplasia
Scoliosis, Accelerated skeletal maturation, Hyperlordosis, Limited elbow extension, Biconvex vert... ORPHA:175
Autosomal Dominant Severe Congenital Neutropenia
Monocytosis, Lymphopenia, Leukemia, Neutropenia, Acute myeloid leukemia, Aplastic anemia, Osteope... ORPHA:486
Juvenile Polyposis Of Infancy
Hypoalbuminemia, Anemia, Refractory anemia ORPHA:79076
Ataxia-Telangiectasia
T lymphocytopenia, Glucose intolerance, Decreased proportion of CD4-positive helper T cells, Lymp... OMIM:208900
Majeed Syndrome
Hypochromic microcytic anemia, Leukocytosis, Congenital hypoplastic anemia, Flexion contracture, ... ORPHA:77297
Mevalonic Aciduria
Leukocytosis, Thrombocytopenia, Elevated circulating C-reactive protein concentration, Anemia, Ky... OMIM:610377
Fanconi Anemia, Complementation Group V
Neutropenia, Elevated alpha-fetoprotein, Thrombocytopenia, Anemia, Bone marrow hypocellularity OMIM:617243
Multiple Endocrine Neoplasia Type 4
Hyperinsulinemic hypoglycemia, Increased circulating cortisol level, Elevated circulating growth ... ORPHA:276152
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Hypercholesterolemia, Decreased HDL cholesterol concentration, Vacuolated... OMIM:278000
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Verheij Syndrome
Scoliosis, Hemivertebrae, Vertebral fusion, Hip dislocation, Short neck OMIM:615583
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Scoliosis, Hyperlordosis, Kyphosis, Achilles tendon contracture, Vertebral fusion, Elevated circu... OMIM:607155
Isolated Klippel-Feil Syndrome
Scoliosis, Abnormality of the vertebral column, Cervical C2/C3 vertebral fusion, Abnormal vertebr... ORPHA:2345
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Ovoid vertebral bodies, Delayed skeletal maturation, Neutropenia, Pa... OMIM:260400
Hyperparathyroidism 2 With Jaw Tumors
Parathyroid carcinoma, Hurthle cell thyroid adenoma, Hypercalcemia, Parathyroid adenoma, Hyperpar... OMIM:145001
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Vertebral segmentation defect, Sacral dimple OMIM:618845
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Parathyroid Carcinoma
Parathyroid carcinoma, Hypercalcemia, Hyperparathyroidism OMIM:608266
Acute Promyelocytic Leukemia
Leukocytosis, Neutropenia, Bone pain, Pancytopenia, Thrombocytopenia, Anemia, Leukopenia ORPHA:520
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Tarsal synostosis, Abnormal form of the vertebral bodies, Posterior fusion of lumbosacral vertebr... ORPHA:2064
Pheochromocytoma--Islet Cell Tumor Syndrome
Pheochromocytoma, Hypercalcemia, Cafe-au-lait spot, Axillary freckling OMIM:171420
Multiple Endocrine Neoplasia, Type I
Prolactinoma, Elevated circulating growth hormone concentration, Increased circulating cortisol l... OMIM:131100
Immunodeficiency 36
Lymphopenia, Chronic lymphatic leukemia, Splenomegaly OMIM:616005
Hereditary Chronic Pancreatitis
Leukocytosis, Elevated circulating C-reactive protein concentration ORPHA:676
Keratoconus Posticus Circumscriptus
Short neck, Limited elbow extension and supination, Abnormal vertebral segmentation and fusion OMIM:244600
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Elbow dislocation, Increased bone mineral density, Abnormal vertebral... ORPHA:90650
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Neutropenia, Reticulocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Leukope... ORPHA:508542
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Multiple Endocrine Neoplasia Type 1
Pancreatic endocrine tumor, Elevated circulating growth hormone concentration, Increased circulat... ORPHA:652
Thymoma
Hemolytic anemia, Abnormal lymphocyte morphology, Pancytopenia, B lymphocytopenia, Limitation of ... ORPHA:99867
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Osteoporosis, Leukocytosis, Chronic lymphatic leukemia, Bone pain, Normocytic a... ORPHA:98849
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Pearson Syndrome
Hypocalcemia, Reticulocytosis, Neutropenia, Pancytopenia, Anemia, Hypomagnesemia, Thrombocytopeni... ORPHA:699
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased proportion of class-switched memory B cells, Vitiligo, Autoimmune thrombocytopenia, Aut... OMIM:614700
Staphylococcal Necrotizing Pneumonia
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukopenia, Leukocytosis ORPHA:36238
Kniest Dysplasia
Platyspondyly, Arthropathy, Enlarged joints, Flexion contracture of finger, Coronal cleft vertebr... ORPHA:485
Livedoid Vasculopathy
Enlargement of the ankles, Lower limb pain, Leukocytosis, Polycythemia, Abnormal circulating lipi... ORPHA:542643
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hyperostosis, Knee pain, Hypoalbuminemia, Periostosis OMIM:614441
Familial Parathyroid Adenoma
Hypophosphatemia, Parathyroid carcinoma, Parathyroid hyperplasia, Recurrent fractures, Generalize... ORPHA:99877
Infection-Related Hemolytic Uremic Syndrome
Hypocalcemia, Hemolytic anemia, Leukocytosis, Hyponatremia, Septic arthritis, Thrombocytopenia, B... ORPHA:544482
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:163596
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Flexion contracture, Short neck, HbH hemoglobin, Microcytic anemia ORPHA:98791