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Gene: Hax1 MGI:1346319

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
HCLS1 associated X-1
Synonyms:
HS1-associated protein X-1,  HAX-1,  Hs1bp1,  mHAX-1s,  Silg111

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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.

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.

Phenotype associated images not available

Human diseases caused by Hax1 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 Hax1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Impaired vibratory sensation, Neutropenia OMIM:610738

The table below shows human diseases predicted to be associated to Hax1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco... OMIM:615897
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Immunodeficiency 79
Decreased proportion of CD4-positive T cells OMIM:619238
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:618204
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia OMIM:615615
Reticular Dysgenesis
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... OMIM:267500
Immunodeficiency 48
Hepatomegaly, Absence of CD8-positive T cells, Splenomegaly, Failure to thrive, Panhypogammaglobu... OMIM:269840
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Failure to thrive, Redu... OMIM:300400
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Absence of... OMIM:619924
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Small for gestational age, Failure to thrive in infancy, Decreased proportion of CD8-positive T c... OMIM:617241
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Failure to thrive in infancy, Cervical lymphadenopathy, Decreased circulating total IgM, B lympho... OMIM:618987
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:312863
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Lymphadenopathy, Wei... ORPHA:100024
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... OMIM:614493
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t... OMIM:611926
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Increased c... OMIM:615513
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in... OMIM:619313
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Abnor... OMIM:212050
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... OMIM:618982
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, Growth delay, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, De... ORPHA:169154
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Cernunnos-Xlf Deficiency
Thrombocytopenia, Decreased circulating antibody level, Growth delay, T lymphocytopenia, B lympho... ORPHA:169079
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... OMIM:613501
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Immunodeficiency 62
Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Decreased circulating total ... OMIM:618459
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia OMIM:618310
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Failure to thrive, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta T... OMIM:619824
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Failure to thrive, Absence of lymph node germinal center, Increased circulating IgE level, Lack o... ORPHA:277
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti... OMIM:620282
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy OMIM:183350
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu... OMIM:619846
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ... OMIM:619802
Immunodeficiency 19
T lymphocytopenia, Failure to thrive, Abnormal B cell morphology, Abnormal natural killer cell mo... OMIM:615617
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Arthritis, B lymphocytopenia, Failure to thrive secondary to recurrent infecti... OMIM:601457
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati... OMIM:613500
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... OMIM:619707
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Immunodeficiency 75 With Lymphoproliferation
Decreased proportion of class-switched memory B cells, Follicular hyperplasia, Lymphadenopathy, H... OMIM:619126
Ataxia-Pancytopenia Syndrome
Pancytopenia, Ataxia, Thrombocytopenia, Unsteady gait, Impaired vibration sensation in the lower ... OMIM:159550
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Immunodeficiency 102
Hepatomegaly, Increased circulating interleukin 6 concentration, Partial absence of specific anti... OMIM:301082
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Osteopenia, Failure to thrive, Absent peripheral lymph nodes in presence of infection, Abnormal i... ORPHA:98813
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl... OMIM:617514
Immunodeficiency 70
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... OMIM:618969
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymphocytopeni... OMIM:612692
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Increased circulating IgE level, Decreased proportion of class-s... OMIM:615767
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Short stature, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Growth de... OMIM:616005
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level OMIM:616873
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Increased circulating IgE level, Increased susceptibility to fractures, Decreased ci... OMIM:619752
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Activated Pi3K-Delta Syndrome
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Decreased circulating antibody level, Lymphade... ORPHA:397596
Immunodeficiency 104
Hepatomegaly, Splenomegaly, Lymphadenopathy, T lymphocytopenia, Failure to thrive secondary to re... OMIM:608971
Immunodeficiency 85 And Autoimmunity
Lymphopenia, Failure to thrive in infancy, Oligoarthritis, Growth delay, Decreased circulating to... OMIM:619510
Immunodeficiency 57 With Autoinflammation
Failure to thrive, Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B l... OMIM:618108
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophi... ORPHA:331206
Immunodeficiency, Common Variable, 1
Hepatomegaly, Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil a... OMIM:607594
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro... OMIM:618944
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia... OMIM:602450
Immunodeficiency 95
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly OMIM:606445
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia OMIM:616022
Folate Malabsorption, Hereditary
Ataxia, Folate-responsive megaloblastic anemia, Athetosis, Leukopenia, Neutropenia, Thrombocytopenia OMIM:229050
Leukodystrophy, Hypomyelinating, 24
Hypothyroidism, Severe short stature, B lymphocytopenia, Flexion contracture OMIM:619851
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Decreased circulating total IgM... OMIM:619281
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chronic decreased ciru... OMIM:615607
Glutathione Synthetase Deficiency
Hemolytic anemia, Ataxia, Neutropenia OMIM:266130
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... OMIM:613493
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... OMIM:300853
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Lymphopenia, Hepatomegaly, Short stature, Joint stiffness, Postnatal growth retardation, Splenome... OMIM:620210
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... ORPHA:911
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, I... OMIM:603909
Ataxia-Telangiectasia
Decreased circulating IgG level, Lymphopenia, Failure to thrive, Diabetes mellitus, Ataxia, Femal... OMIM:208900
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I... OMIM:150550
Immunodeficiency 8 With Lymphoproliferation
Lymphopenia, Attention deficit hyperactivity disorder OMIM:615401
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Short stature, Recurrent fractures, Abnormality of the thyroid gland, Splenomegaly,... ORPHA:417
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Abnormal circulating IgM level, Increased circulating IgA level, Lymphad... OMIM:618048
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating antibody level, Growth delay, Decreased circulating total IgM, B lymphocyto... OMIM:614069
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Immunodeficiency 21
Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ... OMIM:614172
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Astrocytosis, Inappropria... ORPHA:275864
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Aggressive behavior, Astrocytosis, Inappropriate behavior, Gait disturbance, Disinh... OMIM:600795
Trimethylaminuria
Splenomegaly, Anemia, Neutropenia OMIM:602079
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Generalized lymp... OMIM:618986
Progressive Multifocal Leukoencephalopathy
Somatic sensory dysfunction, Decreased proportion of CD8-positive T cells, Dysmetria, Gait ataxia... ORPHA:217260
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Immunodeficiency 68
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic arthritis, Abnormal natural ... OMIM:612260
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T... OMIM:242700
Pontocerebellar Hypoplasia, Type 14
Simplified gyral pattern, Chronic neutropenia, Thrombocytopenia OMIM:619301
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia ORPHA:217390
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Impaired vibratory sensation, Neutropenia OMIM:610738
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... ORPHA:859
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia OMIM:615285
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia OMIM:617585
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Simplified gyral pattern, Chronic neutropenia, Anemia OMIM:619302
Immunodeficiency 92
Hepatomegaly, Osteomyelitis, Cholangitis, Leukocytosis, Decreased proportion of class-switched me... OMIM:619652
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ... OMIM:619705
Mirage Syndrome
Hypergonadotropic hypogonadism, Short stature, Adrenal hypoplasia, Cryptorchidism, Anemia, Leukop... OMIM:617053
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Neutropenia OMIM:615214
Familial Infantile Bilateral Striatal Necrosis
Ataxia, Gait ataxia, Choreoathetosis, Astrocytosis, Gait disturbance, Dysphagia, Loss of ambulati... ORPHA:225154
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level OMIM:247800
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Majeed Syndrome
Hepatomegaly, Increased bone mineral density, Osteomyelitis, Cachexia, Congenital hypoplastic ane... ORPHA:77297
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt... OMIM:243150
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Growth delay, B lymphoc... OMIM:301078
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Immunodeficiency 43
Decreased specific antibody response to polysaccharide vaccine, Lung abscess, Abnormal circulatin... OMIM:241600
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia OMIM:610798
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy, Decreased circulating antibody level, Partial absence of spe... OMIM:618261
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Anemia, Neutropenia OMIM:614082
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Decreased sp... OMIM:617006
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Osteopenia, Recurrent fractures, Eosinophilia, Craniosynostosis, Increased circulating IgE level,... OMIM:147060
Intermediate Osteopetrosis
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Hepatosplenom... ORPHA:210110
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... OMIM:615206
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Thrombocytopenia, Failure to thrive, Absent circulating B cells OMIM:619693
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Adrenal cortical sclerosis, Absent specific antibody response, Lymphopenia, Severe B lymphocytope... OMIM:102700
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased... OMIM:618394
Spinocerebellar Ataxia, Autosomal Recessive 23
Ataxia, Neutropenia OMIM:616949
Selective Igm Deficiency
Decreased proportion of CD4-positive T cells, Hashimoto thyroiditis, Autoimmune thrombocytopenia,... ORPHA:331235
Gaucher Disease Type 1
Osteopenia, Hepatomegaly, Pancytopenia, Increased bone mineral density, Hypersplenism, Splenomega... ORPHA:77259
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome
Decreased proportion of CD4-positive T cells, Short stature, Delayed puberty, Decreased body weight ORPHA:477814
Immunodeficiency 54
Hepatomegaly, Short stature, Postnatal growth retardation, Splenomegaly, Lymphadenopathy, Adrenoc... OMIM:609981
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... OMIM:606367
Autoinflammatory Disease, Systemic, X-Linked
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:301081
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei OMIM:310350
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt... OMIM:614470
Aggressive Systemic Mastocytosis
Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Bone pain, Oste... ORPHA:98850
Immunodeficiency 15B
Failure to thrive, Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreas... OMIM:615592
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... OMIM:619375
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... OMIM:606843
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec... OMIM:613502
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... OMIM:617765
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... ORPHA:35078
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, I... OMIM:601859
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... OMIM:153600
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology, Intrauterine growt... OMIM:615966
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus, Hepatomegaly OMIM:616622
Beta-Thalassemia Intermedia
Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,... ORPHA:231222
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Splenomegaly, Lymphadenopathy, Incr... OMIM:618495
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... ORPHA:75564
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Osteomyelitis, Short stature, Recurrent fractures, Mandibular oste... ORPHA:53
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Hepatomegaly, Decreased proportion of naive T cells, Failure to thrive, Abnormal imm... ORPHA:276
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anorexia, Splenomegaly, Choreoathetosis, Anemia, Neutropenia, Thrombocytopenia ORPHA:79312
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... ORPHA:98826
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Increased bone mineral density, Recurrent fractures, Splenomegaly,... OMIM:611490
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Osteopenia, Pancytopenia, Ataxia, Portal hypertension, Growth delay, Hepatic fibrosis, Bone marro... OMIM:617341
Jessner Lymphocytic Infiltration Of The Skin
Abnormal lymphocyte morphology ORPHA:33314
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Eosinophilia, Hepatitis, Hepatosplenomegaly, Increased circulating antibody level, D... ORPHA:169160
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly... ORPHA:98849
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... OMIM:619220
Osteopetrosis, Autosomal Dominant 3
Osteopenia, Hepatomegaly, Hyperparathyroidism, Recurrent fractures, Splenomegaly, Anemia OMIM:618107
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Chronic neutropenia, Fail... OMIM:614700
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia ORPHA:2688
Lissencephaly Syndrome, Norman-Roberts Type
Intrauterine growth retardation, Hypoplastic spleen ORPHA:89844
Hemophagocytic Lymphohistiocytosis, Familial, 4
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia OMIM:603552
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Increased circulating IgG level,... OMIM:209950
Hemochromatosis, Type 3
Lymphopenia, Anemia, Neutropenia OMIM:604250
Stormorken Syndrome
Howell-Jolly bodies, Short stature, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... OMIM:610163
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Immunodeficiency 46
Neutropenia, Anemia, Intermittent thrombocytopenia OMIM:616740
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia, Impaired pain sensation ORPHA:2582
Hypophosphatasia
Short stature, Failure to thrive in infancy, Craniosynostosis, Recurrent fractures, Anemia ORPHA:436
Wilson Disease
Hepatomegaly, Splenomegaly, Jaundice, Bone pain, Hepatitis, Increased body weight, Weight loss, A... ORPHA:905
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Chorea, Choreoathetosis, Anemia, Neutropenia, Thrombocytopenia ORPHA:289916
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali... ORPHA:543
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Failure to thrive, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypop... OMIM:612541
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... OMIM:618849
Whim Syndrome 1
Neutropenia OMIM:193670
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... OMIM:600802
Microcephalic Primordial Dwarfism, Toriello Type
Severe short stature, Delayed skeletal maturation, Decreased circulating total IgM, Neutropenia, ... ORPHA:2643
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Ataxia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decrea... OMIM:616084
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte count, Portal hyper... ORPHA:79124
Gracile Bone Dysplasia
Short stature, Asplenia, Decreased skull ossification, Hypoplastic spleen, Failure to thrive OMIM:602361
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Short stature, Small for gestational age, Macronodular cirrhosis, Abnormal T cell morphology, Gen... OMIM:215250
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmune hemolytic anemia, Chronic hepatitis due to cryptosporidium infection, Ab... ORPHA:572
Congenital Disorder Of Glycosylation, Type Iir
Decreased proportion of CD4-positive T cells, Hepatomegaly, Jaundice, Micronodular cirrhosis, Dec... OMIM:301045
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocyto... OMIM:613011
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia, Impaired distal tactile sensation OMIM:182410
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Recurrent fractures, Mandibular osteom... OMIM:259710
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T... OMIM:619767
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgG level, Thyroid carcinoma, Lymphocytosis, Increased B cell count, Decrea... ORPHA:3261
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Lymphopenia, Hepatomegaly, Limited elbow movement, Craniosynostosis, Decreased proportion of CD8-... ORPHA:508533
Agammaglobulinemia 1, Autosomal Recessive
Decreased circulating antibody level, Agammaglobulinemia, Rectal abscess, B lymphocytopenia, Neut... OMIM:601495
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Autoimmune hemolytic anemia, Hepatomegaly, Autoimmune thrombocytopenia, Splenomegaly... OMIM:616100
Diamond-Blackfan Anemia 8
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612563
Syndromic Diarrhea
Hepatomegaly, Small for gestational age, Short stature, Increased mean platelet volume, Splenomeg... ORPHA:84064
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Short stature, Anemia ORPHA:3204
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Osteopetrosis, Autosomal Recessive 9
Hyperparathyroidism, Increased bone mineral density, Cortical sclerosis, Postnatal growth retarda... OMIM:620366
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased proportion of class-switched memory B cells, Decreased... OMIM:614878
Sporadic Creutzfeldt-Jakob Disease
Ataxia, Gliosis, Astrocytosis ORPHA:204
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphop... ORPHA:444463
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Pancytopenia, Increased bone mineral density, Osteomyelitis, Craniosynostosis, Sple... OMIM:259700
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l... ORPHA:158057
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia OMIM:598500
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Accelerated skeletal maturation, Insulin-... ORPHA:66628
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, B lymphocytopenia, Bone marrow hypocellularity, Intrauterine growth retardation, Re... OMIM:620133
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Gaucher Disease Type 3
Hepatomegaly, Pancytopenia, Increased bone mineral density, Ataxia, Splenomegaly, Delayed skeleta... ORPHA:77261
Developmental And Epileptic Encephalopathy 66
Broad-based gait, Abnormal repetitive mannerisms, Anemia, Neutropenia OMIM:618067
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum testosterone concentration, Hypergonadotropic hypogonadism, Decreased serum lepti... ORPHA:179494
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... ORPHA:486
Agammaglobulinemia, X-Linked
Hepatocellular carcinoma, Enteroviral hepatitis, Agammaglobulinemia, Decreased circulating total ... OMIM:300755
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Eosinophilia, Abnormally low T cell receptor excision circle level OMIM:618092
Mitochondrial Complex I Deficiency, Nuclear Type 33
Loss of ambulation, Simplified gyral pattern, Dysphagia, Neutropenia OMIM:618253
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Ataxia, Thrombocytopenia, Neutropenia OMIM:603585
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Intrauterine growth retardation, Pancytopenia OMIM:600546
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Increased circulating IgE level, Growth delay, Increased circulating IgG level, Dec... OMIM:243700
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Hypothyroidism, Atypical or prolong... ORPHA:83471
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... OMIM:166600
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Bone pain, Anemia, Pathologic fracture, ... OMIM:230800
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Growth delay, Decreased circulating total IgM, Defec... OMIM:619774
Primary Intestinal Lymphangiectasia
Lymphopenia, Peritoneal effusion, Decreased circulating antibody level, Abnormal lymphatic vessel... ORPHA:90362
Subacute Inflammatory Demyelinating Polyneuropathy
Limitation of movement at ankles, Somatic sensory dysfunction, Leukocytosis, Distal sensory impai... ORPHA:206594
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia OMIM:612527
Lymphedema, Primary, With Myelodysplasia
Acute myeloid leukemia, Pancytopenia, Decreased CD4:CD8 ratio, Leukemia OMIM:614038
Acute Promyelocytic Leukemia
Pancytopenia, Anorexia, Leukocytosis, Anemia, Leukopenia, Addictive alcohol use, Neutropenia, Thr... ORPHA:520
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia OMIM:616738
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Splenomegaly, Lymphocytosis, Hemophagocytosis, Neutropenia, Thromb... OMIM:308240
Focal Cortical Dysplasia, Type Ii
Astrocytosis OMIM:607341
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Decreased proportion of CD3-positive T cells, Failure to thrive,... ORPHA:275
Pearson Syndrome
Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hyp... ORPHA:699
Hypophosphatasia, Infantile
Craniosynostosis, Increased susceptibility to fractures, Decreased calvarial ossification, Dispro... OMIM:241500
Asplenia, Isolated Congenital
Asplenia, Thrombocytosis, Howell-Jolly bodies OMIM:271400
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Short stature, Increased circulating IgM level, T lymphocytopenia, Failure to thrive, Reduced nat... OMIM:242860
Spinocerebellar Ataxia Type 27
Akinesia, Aggressive behavior, Limb ataxia, Gait ataxia, Gait disturbance, Difficulty walking, Tr... ORPHA:98764
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Short stature, Decreased response to growth hormone stimulation test, Enteroviral hepatitis, Dela... OMIM:307200
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Increased circulating IgG level, Leukopenia, T lymphocytopenia, Neutropen... ORPHA:443811
Immunodeficiency 9
Failure to thrive, Hypoplasia of the thymus OMIM:612782
Immunodeficiency, Common Variable, 7
Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par... OMIM:614699
Systemic Lupus Erythematosus 17
Autoimmune thrombocytopenia, Chorea, Leukopenia, Lymphopenia, Thrombocytopenia OMIM:301080
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Lymphopenia, Severe B lymphocytopenia, Portal hypertension, Craniosynostosis, T... OMIM:620005
Immunodeficiency 22
Failure to thrive, Abscess, Thrombocytopenia, Decreased circulating total IgM, Decreased circulat... OMIM:615758
Fanconi Anemia, Complementation Group V
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:617243
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato... OMIM:308230
Slc35A1-Cdg
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia ORPHA:238459
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Inability to walk, Difficulty walking, Astrocytosis OMIM:611087
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Dyskeratosis Congenita, Autosomal Recessive 5
Postnatal growth retardation, Decreased circulating antibody level, Leukopenia, Bone marrow hypoc... OMIM:615190
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Osteopenia, Ataxia, Decreased lymphocyte proliferation in response to anti-CD3, Abnormal T cell s... ORPHA:221139
Specific Granule Deficiency 2
Absent neutrophil specific granules, Thrombocytopenia, Anemia, Neutropenia OMIM:617475
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Joint contracture of the... OMIM:214110
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia OMIM:618752
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ... ORPHA:101096
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Osteopenia, Short stature, Ataxia, Postnatal growth retardation, Osteoporosis, Increased suscepti... OMIM:612199
Monosomy 5P
Short stature, Recurrent fractures, Joint hyperflexibility, Abnormality of bone mineral density, ... ORPHA:281
Roifman Syndrome
Hip contracture, Hypogonadotropic hypogonadism, Eosinophilia, Short stature, Postnatal growth ret... ORPHA:353298
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Failure to thrive, Severe B lymphocytopenia, Decreased circulating cortisol level, Decreased resp... ORPHA:293978
Inherited Creutzfeldt-Jakob Disease
Progressive cerebellar ataxia, Chorea, Astrocytosis, Gait ataxia ORPHA:282166
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... OMIM:617237
Multiple Myeloma
Osteopenia, Increased circulating IgA level, Splenomegaly, Bone pain, Decreased circulating antib... ORPHA:29073
Chronic Beryllium Disease
Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T cells, Weight loss ORPHA:133
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Increased circulating interleukin 6 concentration, Hepatomegaly, Asplenia, Cerv... OMIM:614034
Developmental Delay, Hypotonia, And Impaired Language
Ataxia, Neutropenia OMIM:620012
Lysinuric Protein Intolerance
Hepatomegaly, Short stature, Recurrent fractures, Splenomegaly, Delayed skeletal maturation, Oste... OMIM:222700
Mazabraud Syndrome
Bone pain, Recurrent fractures ORPHA:57782
Immunodeficiency 40
Hepatomegaly, Eosinophilic granuloma, Growth delay, T lymphocytopenia, Reduced antigen-specific T... OMIM:616433
Autosomal Dominant Hyper-Ige Syndrome
Osteopenia, Osteomyelitis, Recurrent fractures, Eosinophilia, Craniosynostosis, Increased circula... ORPHA:2314
Epidermodysplasia Verruciformis, Susceptibility To, 4
Increased proportion of exhausted T cells OMIM:618307
Pelger-Huet Anomaly
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... OMIM:169400
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Osteopenia, Autoimmune hemolytic anemia, Short stature, Autoimmune thrombocytopenia, Abnormality ... ORPHA:391487
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Ataxia, Autoimmune thrombocytopenia, Abnormal T cell morphology, Dec... ORPHA:760
Immunodeficiency 7
Splenomegaly, Autoimmune hemolytic anemia, Hypereosinophilia, Neutropenia OMIM:615387
Acute Erythroid Leukemia
Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocellularity, Anemia ORPHA:318
Wiskott-Aldrich Syndrome
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... ORPHA:906
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Lymphopenia, Neutropenia OMIM:614868
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Neutropenia OMIM:617056
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Short stature, Thrombocytopenia, Reticulocytopenia, Leukopenia, Rhizomelic arm shortening, B lymp... ORPHA:508542
Gnathodiaphyseal Dysplasia
Osteopenia, Mandibular osteomyelitis, Recurrent fractures ORPHA:53697
Autoimmune Polyendocrinopathy Type 4
Osteopenia, Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune thrombocytopenia, Prima... ORPHA:227990
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Dermatitis Herpetiformis
Bone pain, Recurrent fractures, Microcytic anemia ORPHA:1656
Hypergonadotropic Hypogonadism-Cataract Syndrome
Hypergonadotropic hypogonadism, Short stature, Recurrent fractures, Increased circulating gonadot... ORPHA:2410
Griscelli Syndrome Type 2
Splenomegaly, Pancytopenia, Hemophagocytosis, Neutropenia ORPHA:79477
Autoimmune Polyendocrinopathy Type 3
Osteopenia, Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Aut... ORPHA:227982
Immunodeficiency 55
Absent natural killer cells, Short stature, Postnatal growth retardation, Lymphadenopathy, Neutro... OMIM:617827
Immunodeficiency 11B With Atopic Dermatitis
Decreased circulating total IgM, Increased circulating IgE level, Eosinophilia OMIM:617638
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Chorea, Lymphopenia, Thrombocytopenia OMIM:616744
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Ataxia, Abnormal dense granules, Thrombocytopenia, Spl... OMIM:214500
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Failure to thrive in infancy, Increased circulating IgA level, Leukocytosis, Lympha... OMIM:617099
Osteoporosis, Childhood- Or Juvenile-Onset, With Developmental Delay
Osteopenia, Recurrent fractures OMIM:619884
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... OMIM:300835
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Anemia, Bone marrow hypocellularity, Neutropenia, Polymicrogyria, Thrombocytopenia OMIM:614520
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Ataxia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagocytosis... ORPHA:158048
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the 2nd finger, Pr... OMIM:130060
Sting-Associated Vasculopathy, Infantile-Onset
Failure to thrive, Increased circulating IgA level, Follicular hyperplasia, Joint stiffness, Para... OMIM:615934
Immunodeficiency 23
Hemolytic anemia, Somatic sensory dysfunction, Failure to thrive, Ataxia, Abscess, Eosinophilia, ... OMIM:615816
Idiopathic Aplastic Anemia
Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Thrombocytopenia ORPHA:88
Cyclic Neutropenia
Cyclic neutropenia, Perianal abscess, Decreased eosinophil count, Lymphopenia, Tooth abscess, Thr... ORPHA:2686
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Patent ductus arteriosus, Normochromic anemia, Thrombocytopenia, Neutropenia OMIM:614857
Huntington Disease
Oral-pharyngeal dysphagia, Aggressive behavior, Inability to walk, Chorea, Gait disturbance, Gait... ORPHA:399
Multiple Enchondromatosis, Maffucci Type
Pathologic fracture OMIM:614569
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Increased circulating interleukin 6 concentration, Perianal abscess, Weight loss, Iron deficiency... OMIM:301074
Transcobalamin Ii Deficiency
Macrocytic anemia, Pancytopenia, Ataxia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia OMIM:275350
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Recurrent fractures ORPHA:2773
Boutonneuse Fever
Cervical lymphadenopathy, Lymphadenopathy, Increased circulating IgG level, Increased circulating... ORPHA:83313
Mccune-Albright Syndrome
Accelerated skeletal maturation, Bone pain, Hyperthyroidism, Osteomalacia, Precocious puberty, He... ORPHA:562
Paternal Uniparental Disomy Of Chromosome 1
Pain insensitivity, Short stature, Recurrent fractures, Craniosynostosis, Obesity, Delayed pubert... ORPHA:251004
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Impaired n... OMIM:608203
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Compulsive behaviors, Reduction of neutrophil motility OMIM:266265
H Syndrome
Diabetes mellitus, Short stature, Recurrent fractures, Microcytic anemia, Delayed skeletal matura... ORPHA:168569
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Postnatal growth... OMIM:612394
Senior-Loken Syndrome 4
Polydipsia, Anemia OMIM:606996
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... ORPHA:35858
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Splenomegaly, Astrocytosis, Dysdiadochokinesis, Gait disturbance, Difficulty walking, Truncal ata... ORPHA:309854
Hyperparathyroidism, Neonatal Severe
Hepatomegaly, Recurrent fractures, Splenomegaly, Primary hyperparathyroidism, Elevated circulatin... OMIM:239200
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
Osteootohepatoenteric Syndrome
Recurrent fractures, Avascular necrosis of the capital femoral epiphysis, Microvesicular hepatic ... OMIM:619377
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus ORPHA:40366
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Unsteady gait, Neuromuscular dysphagia, Falls, Gait imbalance, Loss o... ORPHA:240094
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereo... OMIM:617388
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Decreased circulating total IgG, Osteomalacia, Osteomyelit... OMIM:619381
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Leukopenia, Thrombocytopenia, Neutropenia OMIM:251000
Immunodeficiency, Common Variable, 2
Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, De... OMIM:240500
Spinocerebellar Ataxia 21
Ataxia, Akinesia, Aggressive behavior, Impulsivity, Limb ataxia, Gait ataxia, Progressive cerebel... OMIM:607454
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Neutropenia OMIM:616395
Pycnodysostosis
Joint laxity, Decreased serum insulin-like growth factor 1, Increased bone mineral density, Rhizo... ORPHA:763
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Hepatomegaly, Failure to thrive, Short stature, Chronic neutropenia, Hypothyroidism, ... ORPHA:79259
Barth Syndrome
Cyclic neutropenia, Hypochromic microcytic anemia, Gait disturbance, Granulocytopenia, Neutropenia OMIM:302060
Macrophage Activation Syndrome
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Abnormal natural killer cell count, Thromboc... ORPHA:158061
Neonatal Lupus Erythematosus
Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia ORPHA:398124
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... ORPHA:398063
Spastic Paraplegia-Paget Disease Of Bone Syndrome
Increased spinal bone density, Bone pain, Recurrent fractures ORPHA:329475
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne... OMIM:233600
Neonatal Alloimmune Neutropenia
Neutropenia in presence of anti-neutropil antibodies ORPHA:464370
3-Methylglutaconic Aciduria, Type Viia
Anisopoikilocytosis, Anemia, Neutropenia OMIM:619835
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp... ORPHA:436159
Microphthalmia, Syndromic 9
Severe short stature, Short stature, Cryptorchidism, Multilobulated spleen, Intrauterine growth r... OMIM:601186
Rothmund-Thomson Syndrome
Osteopenia, Small for gestational age, Aplastic anemia, Short stature, Reduced bone mineral densi... ORPHA:2909
Schimke Immunoosseous Dysplasia
Waddling gait, Pancytopenia, Thrombocytopenia, Abnormal T cell morphology, Neutropenia, Lymphopen... OMIM:242900
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Follicular thyroid carcinoma, Recurrent fractures, Bone pa... ORPHA:319487
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Thrombocy... OMIM:617780
Congenital Enterovirus Infection
Abnormal macrophage morphology, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia ORPHA:292
Infantile Systemic Hyalinosis
Osteopenia, Severe short stature, Osteomalacia, Recurrent fractures, Camptodactyly of finger, Joi... ORPHA:2176
Propionic Acidemia
Thrombocytopenia, Pancytopenia, Anemia, Neutropenia OMIM:606054
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Leukopenia, Bone marrow hypocellularity, Neutropenia, Thrombocytop... OMIM:613989
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Failure to thrive, Severe B lymphocytopenia, Biliary hyperplasia, Cryptorchidism, P... ORPHA:83617
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic anemia, Neutropenia,... OMIM:304790
Lethal Congenital Contracture Syndrome 10
Intrauterine growth retardation, Stiff neck, Hypoplasia of the thymus OMIM:617022
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia OMIM:618948
3-Methylglutaconic Aciduria, Type Viib
Ataxia, Choreoathetosis, Leukopenia, Neutropenia, Thrombocytopenia OMIM:616271
3-Methylglutaconic Aciduria Type 7
Choreoathetosis, Bone marrow hypocellularity, Infection associated neutropenia, Neutropenia ORPHA:445038
3-Methylglutaconic Aciduria, Type V
Ataxia, Postnatal growth retardation, Microvesicular hepatic steatosis, Cryptorchidism, Normochro... OMIM:610198
Immunodeficiency 67
Liver abscess, Transient neutropenia OMIM:607676
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Joint laxity, Short stature, Isosexual precocious puberty, Osteoporosis, Increased su... ORPHA:2788
Cohen Syndrome
Leukopenia, Neutropenia OMIM:216550
Felty Syndrome
Splenomegaly, Anemia, Bone marrow hypocellularity, Neutropenia, Abnormal lymphocyte morphology, T... ORPHA:47612
Hypoglossia With Situs Inversus
Asplenia, Polysplenia OMIM:612776
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Hepatomegaly, Failure to thrive, Decreased circulating total... OMIM:300972
Mucopolysaccharidosis-Plus Syndrome
Inability to walk, Thrombocytopenia, Splenomegaly, Patent ductus arteriosus, Leukopenia, Bone mar... OMIM:617303
Blue Rubber Bleb Nevus
Iron deficiency anemia, Abnormality of the liver, Pathologic fracture, Thrombocytopenia OMIM:112200
Diamond-Blackfan Anemia 11
Bone marrow hypocellularity, Anemia of inadequate production, Neutropenia OMIM:614900
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Lymphopenia, Abnormal repetitive mannerisms, Aggressive behavior ORPHA:391307
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Choreoathetosis, Ataxia, Dysphagia, Neutropenia OMIM:615471
Letterer-Siwe Disease
Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly OMIM:246400
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Thrombocytopenia, Anemia, Neutropenia ORPHA:47
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Osteopenia, Recurrent fractures, Postnatal growth retardation, Delayed skeletal maturation, Joint... ORPHA:2324
Gaucher Disease
Osteopenia, Osteoarthritis, Bone pain, Avascular necrosis, Hepatomegaly, Increased bone mineral d... ORPHA:355
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Hepatitis, Rectal abscess, Hypoplasia of the thymus, Type I diabetes... ORPHA:436252
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Osteomyelitis, Eosinophilia, Increased circulating IgE level, Decreased circulating IgA level, Cu... OMIM:618282
Lysinuric Protein Intolerance
Osteopenia, Hepatomegaly, Decreased response to growth hormone stimulation test, Thrombocytopenia... ORPHA:470
Urban-Rogers-Meyer Syndrome
Short stature, Recurrent fractures, Camptodactyly of finger, Cryptorchidism, Increased circulatin... ORPHA:3409
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Increased mean corpuscular volume, Pancytopenia, Neutropenia ORPHA:2169
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Pancytopenia, Short stature, Recurrent fractures, Enlarged tonsils, Anemia, Leukope... ORPHA:2785
Lymphangiectasia, Intestinal
Lymphopenia OMIM:152800
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Schimke Immuno-Osseous Dysplasia
Thrombocytopenia, Decreased proportion of naive CD8 T cells, Abnormal proportion of naive CD4 T c... ORPHA:1830
Laterality Defects, Autosomal Dominant
Asplenia OMIM:601086
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Recurrent fractures, Abnormal lymph node morphology, Papil... ORPHA:97290
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Short stature, Dysgammaglobulinemia, T lymphocytopenia, B lymphocyto... OMIM:251260
Autosomal Agammaglobulinemia
Neutropenia ORPHA:33110
Noonan Syndrome 12
Lymphopenia, Thrombocytopenia OMIM:618624
Alg12-Cdg
Decreased serum insulin-like growth factor 1, Partial absence of specific antibody response to Ha... ORPHA:79324
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Waddling gait, Neutropenia, Difficulty walking, Microcytic anemia OMIM:251900
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Short stature, Osteolysis, Increased susceptibility to fractures, Pathologic fracture, Hepatic st... ORPHA:52430
Maffucci Syndrome
Neoplasm of the adrenal cortex, Short stature, Recurrent fractures, Neoplasm of the parathyroid g... ORPHA:163634
Isolated Anencephaly
Intrauterine growth retardation, Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes ORPHA:563609
Herpes Simplex Virus Encephalitis
Leukocytosis, Neutrophilia, Addictive alcohol use ORPHA:1930
Ataxia-Telangiectasia
Lymphopenia, Ataxia, Gait disturbance ORPHA:100
Manganese Poisoning
Akinesia, Aggressive behavior, Hypersexuality, Gait disturbance, Inappropriate laughter, Compulsi... ORPHA:306682
Porphyria, Congenital Erythropoietic
Osteopenia, Hemolytic anemia, Hepatomegaly, Short stature, Splenomegaly, Jaundice, Osteolysis, Ch... OMIM:263700
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Inability to walk, Astrocytosis, Lissencephaly, Dysphagia, Pachygyria ORPHA:258
Bloom Syndrome
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Diabetes mellitus, Small fo... ORPHA:125
Cerebroretinal Microangiopathy With Calcifications And Cysts 3
Intrauterine growth retardation, Recurrent fractures OMIM:620368
Autosomal Recessive Cutis Laxa Type 2A
Ataxia, Postnatal growth retardation, Increased susceptibility to fractures, Athetosis, Intrauter... ORPHA:357058
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Recurrent fractures, Cryptorchidism, Joint hyperflexibility, Decreased calvarial ossification, Di... ORPHA:2772
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Difficulty walking, Neutropenia ORPHA:1667
Kufor-Rakeb Syndrome
Ataxia, Akinesia, Aggressive behavior, Distal sensory impairment, Gait disturbance, Dysphagia OMIM:606693
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla... OMIM:250250
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Vertebral fusion, Short stature, Avascular necrosis of the capital femoral epiphysis, Abnormal ci... ORPHA:93315
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Ataxia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenome... OMIM:613179
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Hepatomegaly, Small for gestational age, Limb joint contracture, Nodular regenerative hyperplasia... ORPHA:404454
Distal Renal Tubular Acidosis
Hemolytic anemia, Short stature, Osteomalacia, Bone pain, Rickets, Reduced bone mineral density, ... ORPHA:18
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Hyperactivity, Aplastic anemia, Thrombocytopenia, Persisten... OMIM:617052
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Pancytopenia, Somatic sensory dysfunction, Ataxia, Inability to wa... ORPHA:167
Supranuclear Palsy, Progressive, 1
Akinesia, Astrocytosis, Gliosis, Falls, Gait imbalance, Dysphagia OMIM:601104
Vici Syndrome
Dysphagia, Leukopenia, T lymphocytopenia, Gray matter heterotopia, Neutropenia, Decreased proport... OMIM:242840
Osteogenesis Imperfecta, Type Xiv
Osteopenia, Short stature, Recurrent fractures, Increased susceptibility to fractures OMIM:615066
Dyskeratosis Congenita
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Short stature, Recurrent fractures, Ab... ORPHA:1775
Rothmund-Thomson Syndrome Type 2
Osteopenia, Small for gestational age, Aplastic anemia, Short stature, Cryptorchidism, Delayed sk... ORPHA:221016
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Pancytopenia, Megaloblastic anemia, Patent ductus arteriosus, Anemia, Neutropenia, Thrombocytopenia OMIM:277380
Osteogenesis Imperfecta, Type V
Osteopenia, Hyperextensibility of the finger joints, Short stature, Recurrent fractures, Hyperext... OMIM:610967
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Hepatosplenomegaly, Enlarg... OMIM:608233
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Osteopenia, Joint laxity, Adrenal hypoplasia, Growth delay, Hypoplasia of the t... OMIM:613177
Methylmalonic Aciduria, Cblb Type
Thrombocytopenia, Pancytopenia, Anemia, Neutropenia OMIM:251110
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Multiple prenatal fractures, Bowing of limbs due to multiple fractures, Decreased calvarial ossif... OMIM:259410
Staphylococcal Necrotizing Pneumonia
Leukopenia, Leukocytosis, Neutrophilia, Addictive alcohol use ORPHA:36238
Leigh Syndrome
Ataxia, Chorea, Dysphagia, Choreoathetosis, Athetosis, Gliosis, Neutropenia, Anemia ORPHA:506
Chronic Visceral Acid Sphingomyelinase Deficiency
Osteopenia, Hepatomegaly, Decreased serum insulin-like growth factor 1, Ataxia, Short stature, Au... ORPHA:77293
Diamond-Blackfan Anemia 7
Patent ductus arteriosus, Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612562
Immunodeficiency 32B
Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocytopenia, Thromb... OMIM:226990
Gorham-Stout Disease
Osteopenia, Osteomyelitis, Osteolysis involving bones of the upper limbs, Bone pain, Osteolysis, ... ORPHA:73
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia OMIM:207731
Necrotizing Enterocolitis
Leukocytosis, Thrombocytopenia, Neutropenia ORPHA:391673
Bruck Syndrome 1
Joint laxity, Hip contracture, Short stature, Ankle flexion contracture, Osteoporosis, Elbow flex... OMIM:259450
Atypical Juvenile Parkinsonism
Akinesia, Inability to walk, Gait ataxia, Shuffling gait, Short stepped shuffling gait ORPHA:391411
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Multiple prenatal fractures, Decreased calvarial ossification, Bowing of lim... OMIM:259440
Osteogenesis Imperfecta, Type Xix
Osteopenia, Severe short stature, Rhizomelia, Recurrent fractures, Multiple prenatal fractures, J... OMIM:301014
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Myocardial necrosis, Pancytopenia, Persistence of hemoglobin F, Anemia, N... OMIM:260400
Mohr-Tranebjaerg Syndrome
Increased susceptibility to fractures OMIM:304700
Evans Syndrome
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr... ORPHA:1959
Acute Generalized Exanthematous Pustulosis
Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia ORPHA:293173
Gnathodiaphyseal Dysplasia
Osteopenia, Osteomyelitis, Diaphyseal cortical sclerosis, Increased susceptibility to fractures OMIM:166260
Progressive Non-Fluent Aphasia
Restlessness, Astrocytosis ORPHA:100070
Poikiloderma With Neutropenia
Splenomegaly, Leukopenia, Neutropenia OMIM:604173
Familial Hemophagocytic Lymphohistiocytosis
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia ORPHA:540
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Osteopenia, Pathologic fracture OMIM:618193
Aspergillosis
Eosinophilia, Neutropenia ORPHA:1163
Whim Syndrome
Lymphopenia, Abnormal neutrophil morphology, Limb ataxia, Neutropenia ORPHA:51636
Khan-Khan-Katsanis Syndrome
Patent ductus arteriosus after premature birth, Neutropenia, Dysphagia, Lymphopenia, Anemia OMIM:618460
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia ORPHA:1116
Greenberg Dysplasia
Hepatomegaly, Rhizomelia, Recurrent fractures, Multiple prenatal fractures, Costal cartilage calc... OMIM:215140
Intellectual Developmental Disorder, Autosomal Dominant 54
Ataxia, Aggressive behavior, Inability to walk, Neutropenia, Bruxism OMIM:617799
Hereditary Sensory And Autonomic Neuropathy Type 1
Pain insensitivity, Osteomyelitis, Impaired temperature sensation, Distal sensory impairment, Lim... ORPHA:36386
Arthrogryposis, Distal, Type 2A
Hip contracture, Flexion contracture of finger, Small for gestational age, Recurrent fractures, S... OMIM:193700
Intermediate Nemaline Myopathy
Multiple prenatal fractures, Arthrogryposis multiplex congenita, Flexion contracture ORPHA:171433
Shwachman-Diamond Syndrome
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... ORPHA:811
Fanconi Anemia, Complementation Group I
Bone marrow hypocellularity, Neutropenia OMIM:609053
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus, Short stature ORPHA:3004
Osteogenesis Imperfecta, Type Xxii
Short stature, Recurrent fractures, Multiple prenatal fractures, Reduced bone mineral density, De... OMIM:619795
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Postnatal growth retardation, J... ORPHA:79303
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Hyperthyroidism, Short stature, Impaired T cell function, Abnormality of the ... ORPHA:567
Aceruloplasminemia
Refractory anemia, Ataxia, Akinesia, Chorea, Limb ataxia, Gait ataxia, Hypochromic microcytic anemia ORPHA:48818
Hypocalcemic Vitamin D-Dependent Rickets
Short stature, Osteomalacia, Postnatal growth retardation, Delayed epiphyseal ossification, Bone ... ORPHA:289157
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... ORPHA:33543
Spinocerebellar Ataxia Type 21
Progressive cerebellar ataxia, Akinesia, Gait ataxia ORPHA:98773
Deafness-Lymphedema-Leukemia Syndrome
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloproliferative disorde... ORPHA:3226
Spondyloenchondrodysplasia With Immune Dysregulation
T lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Neutropenia OMIM:607944
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Ataxia, Short stature, Postnatal growth retardation, Osteoporosis, Thyroiditis... OMIM:212750
Perry Syndrome
Inappropriate behavior, Disinhibition, Short stepped shuffling gait, Akinesia OMIM:168605
Fanconi Anemia, Complementation Group E
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:600901
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Short stat... ORPHA:2235
Autoimmune Polyendocrine Syndrome, Type Ii
Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Thymoma, Chronic hepatitis, ... OMIM:269200
Methylmalonic Aciduria, Cbla Type
Thrombocytopenia, Pancytopenia, Anemia, Neutropenia OMIM:251100
Hypophosphatasia, Adult
Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra... OMIM:146300
Gaucher Disease, Perinatal Lethal
Akinesia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Dysphagia, Anemia OMIM:608013
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Hepatomegaly, Pain insensitivity, Ataxia, Short stature, Hepatocellular carcinoma, Microvesicular... OMIM:256810
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia, Anorexia ORPHA:1302
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Anorexia, Thrombocytopenia, Reticulocytopenia, Neutropenia, H... OMIM:557000
Fusariosis
Brain abscess, Lung abscess, Abnormality of the spleen, Granuloma, Neutropenia, Lymphopenia ORPHA:228119
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis, Shuffling gait, Dysphagia ORPHA:247234
Bare Lymphocyte Syndrome, Type Ii
Neutropenia OMIM:209920
Kasabach-Merritt Syndrome
Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An... ORPHA:2330
Bruck Syndrome 2
Osteopenia, Short stature, Flexion contracture, Elbow flexion contracture, Increased susceptibili... OMIM:609220
Neurodegeneration With Brain Iron Accumulation 1
Hyperactivity, Ataxia, Akinesia, Acanthocytosis, Phonic tics, Choreoathetosis, Gait disturbance, ... OMIM:234200
Fanconi Anemia, Complementation Group A
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:227650
Toxic Epidermal Necrolysis
Neutropenia, Anemia, Dysphagia, Polydipsia, Thrombocytopenia ORPHA:537
Familial Expansile Osteolysis
Pathologic fracture, Bone pain, Osteolysis OMIM:174810
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Anemia, Hypochromic microcytic anemia, Akinesia OMIM:619147
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Premature thelarche, Osteolysis involving bones of the upper limbs, Osteoporosis, Ost... ORPHA:371428
Pediatric-Onset Graves Disease
Hyperactivity, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Polydipsia, Po... ORPHA:525731
Digeorge Syndrome
Parathyroid agenesis, Impaired T cell function, Decreased circulating parathyroid hormone level, ... OMIM:188400
Hermansky-Pudlak Syndrome 10
Splenomegaly, Neutropenia OMIM:617050
Prader-Willi Syndrome
Osteopenia, Diabetes mellitus, Short stature, Decreased response to growth hormone stimulation te... ORPHA:739
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Patent ductus arteriosus, Neutropenia OMIM:618005
Hamamy Syndrome
Hypoparathyroidism, Osteopenia, Recurrent fractures, Craniosynostosis, Microcytic anemia, Cryptor... OMIM:611174
Congenital Insensitivity To Pain With Severe Intellectual Disability
Pain insensitivity, Osteomyelitis, Small for gestational age, Recurrent fractures, Impaired tacti... ORPHA:453510
Hyperparathyroidism, Transient Neonatal
Osteopenia, Hyperparathyroidism, Recurrent fractures, Ovarian cyst, Splenic cyst, Fractured rib OMIM:618188
Variant Abeta2M Amyloidosis
Hepatic amyloidosis, Wrist pain, Pathologic fracture, Abnormal salivary gland morphology, Knee pain ORPHA:314652
Classic Progressive Supranuclear Palsy Syndrome
Impulsivity, Akinesia, Neuromuscular dysphagia, Falls, Gait imbalance ORPHA:240071
Osteogenesis Imperfecta
Osteopenia, Somatic sensory dysfunction, Small for gestational age, Ataxia, Short stature, Rhizom... ORPHA:666
Treacher-Collins Syndrome
Cryptorchidism, Abnormality of the adrenal glands, Hypoplasia of the thymus, Abnormality of bone ... ORPHA:861
Brucellosis
Liver abscess, Chorea, Knee osteoarthritis, Increased circulating IgG level, Leukopenia, Abnormal... ORPHA:1304
Fanconi Anemia, Complementation Group D2
Pancytopenia, Patent ductus arteriosus, Reticulocytopenia, Anemia, Bone marrow hypocellularity, A... OMIM:227646
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Small for gestational age, Fractured radius, Multiple prenatal fractures, Flexion con... OMIM:616897
Neuropathy, Hereditary Sensory And Autonomic, Type V
Impaired vibratory sensation, Pain insensitivity, Osteomyelitis, Recurrent fractures, Impaired pa... OMIM:608654
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Recurrent fractures, Craniosynostosis, Splenomegaly, Bone pain, Lymphadenopathy, Gr... ORPHA:667
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Multiple prenatal fractures, Arthrogryposis multiplex congenita, Flexion contracture OMIM:616867
Kikuchi-Fujimoto Disease
Ataxia, Anorexia, Thrombocytopenia, Splenomegaly, Leukopenia, Lymphocytosis, Neutropenia, Anemia ORPHA:50918
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Pathologic fracture, Limitation of joint mobility, Short stature ORPHA:166277
Methylmalonic Acidemia With Homocystinuria Type Cblf
Neutropenia, Megaloblastic anemia ORPHA:79284
Achondrogenesis Type 1A
Severe short stature, Recurrent fractures, Abnormal enchondral ossification ORPHA:93299
Marshall-Smith Syndrome
Craniosynostosis, Accelerated skeletal maturation, Reduced bone mineral density, Increased suscep... ORPHA:561
Hereditary Late-Onset Parkinson Disease
Impulsivity, Akinesia, Agitation, Shuffling gait, Gliosis, Dysphagia ORPHA:411602
Fanconi Anemia, Complementation Group C
Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Leukemia, Thro... OMIM:227645
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Prop... ORPHA:54595
Neurodegeneration With Brain Iron Accumulation 5
Akinesia, Aggressive behavior OMIM:300894
Lathosterolosis
Bilobate gallbladder, Increased mean platelet volume, Acanthocytosis, Intrahepatic cholestasis, S... OMIM:607330
Sepsis In Premature Infants
Splenomegaly, Leukocytosis, Anemia, Neutropenia, Thrombocytopenia ORPHA:90051
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... ORPHA:189427
Insulin-Resistance Syndrome Type B
Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Increased circulating IgG level,... ORPHA:2298
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Perianal abscess, Leukocytosis, Increased circulating IgE level, Increased circulating IgG level,... OMIM:618213
Aspartylglucosaminuria
Joint laxity, Hepatomegaly, Short stature, Delayed skeletal maturation, Vacuolated lymphocytes, N... OMIM:208400
Corticobasal Syndrome
Somatic sensory dysfunction, Gait disturbance, Akinesia ORPHA:454887
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Chronic active hepatitis, Female hypogonadism, Decreased circulating parathyr... OMIM:240300
Mucopolysaccharidosis Type 3
Hepatomegaly, Ataxia, Adenoiditis, Joint stiffness, Splenomegaly, Avascular necrosis of the capit... ORPHA:581
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Postn... ORPHA:288
Grange Syndrome
Increased susceptibility to fractures ORPHA:79094
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Ataxia, Thrombocytopenia, Hepatic necrosis, Leukopenia, Increased mean corpuscul... OMIM:127550
Dyskeratosis Congenita, Digenic
Decreased circulating IgG level, Short stature, Decreased circulating total IgM, Intrauterine gro... OMIM:620040
Osteogenesis Imperfecta, Type Xv
Bowing of limbs due to multiple fractures, Short stature, Recurrent fractures, Joint hypermobility OMIM:615220
Paget Disease Of Bone 6
Osteoarthritis, Bone pain, Recurrent fractures OMIM:616833
Osteogenesis Imperfecta, Type Xii
Hyperextensibility of the finger joints, Short stature, Recurrent fractures, Osteoporosis, Genera... OMIM:613849
Saul-Wilson Syndrome
Neutropenia OMIM:618150
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Recurrent fractures, Reduced bone mineral density, Ovarian neoplasm, Lymphangioma, Neoplasm of th... ORPHA:137608
Postencephalitic Parkinsonism
Paresthesia, Akinesia, Dysphagia ORPHA:97349
Gaisböck Syndrome
Diabetes mellitus, Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentration,... ORPHA:90041
Ebola Hemorrhagic Fever
Leukopenia, Lymphopenia, Thrombocytopenia, Dysphagia ORPHA:319218
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Ataxia, Elevated hemoglobin A1c, Anterior pituitary hypoplasia, Sh... OMIM:616113
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ... OMIM:615415
Brain-Lung-Thyroid Syndrome
Hyperactivity, Ataxia, Abnormal eating behavior, Chorea, Abnormal drinking behavior, Choreoatheto... ORPHA:209905
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Osteopenia, Joint laxity, Short stature, Advanced ossification of carpal bones, Increased suscept... OMIM:615349
Rin2 Syndrome
Cryptorchidism, Hypergonadotropic hypogonadism, Joint hypermobility, Increased susceptibility to ... ORPHA:217335
Cockayne Syndrome Type 3
Splenomegaly, Unsteady gait, Difficulty walking, Astrocytosis ORPHA:90324
Osteogenesis Imperfecta, Type Xiii
Increased bone mineral density, Short stature, Recurrent fractures, Osteoporosis, Reduced bone mi... OMIM:614856
Osteogenesis Imperfecta, Type Iii
Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal fractures, Decreased calv... OMIM:259420
Shwachman-Diamond Syndrome 2
Normocytic anemia, Thrombocytopenia, Neutropenia OMIM:617941
Marchiafava-Bignami Disease
Ataxia, Aggressive behavior, Gait ataxia, Addictive alcohol use, Gait disturbance ORPHA:221074
Dysplasia Epiphysealis Hemimelica
Tarsal synostosis, Recurrent fractures, Accelerated skeletal maturation, Joint stiffness, Osteoar... ORPHA:1822
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Recurrent fractures, Delayed epiphyseal ossification, Bone pain, Rickets, Growth delay, Elevated ... OMIM:264700
Vitamin D-Dependent Rickets, Type 2A
Recurrent fractures, Delayed epiphyseal ossification, Bone pain, Rickets, Growth delay, Elevated ... OMIM:277440
Eec Syndrome
Anterior hypopituitarism, Hypoplasia of the thymus, Decreased response to growth hormone stimulat... ORPHA:1896
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Neutropenia in presence o... ORPHA:37042
Adamantinoma
Pathologic fracture, Bone pain ORPHA:55881
Multiple Pterygium Syndrome, X-Linked
Intrauterine growth retardation, Flexion contracture, Increased susceptibility to fractures, Vert... OMIM:312150
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Recurrent fractures, Decreased circulating parathyroid hormone level, Delayed epiphyseal ossifica... OMIM:241530
Primary Sjögren Syndrome
Normocytic anemia, Chronic active hepatitis, Chorea, Leukopenia, Decreased circulating complement... ORPHA:289390
Progeria-Short Stature-Pigmented Nevi Syndrome
T lymphocytopenia, Broad-based gait, Paresthesia, Microcytic anemia ORPHA:2959
Legionnaires Disease
Ataxia, Anorexia, Splenomegaly, Bone marrow hypocellularity, Lymphopenia ORPHA:549
Type 1 Diabetes Mellitus
Polydipsia, Polyphagia OMIM:222100
Mucolipidosis Ii Alpha/Beta
Osteopenia, Hepatomegaly, Craniosynostosis, Splenomegaly, Limitation of joint mobility, Growth de... OMIM:252500
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Ataxia, Dysmetria, Dysphagia, Lymphopenia, Polymicrogyria OMIM:619708
Classic Pantothenate Kinase-Associated Neurodegeneration
Increased susceptibility to fractures, Weight loss ORPHA:216866
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Recurrent fractures, Delayed epiphyseal ossification, Bone pain, Rickets, Growth delay, Failure t... OMIM:600081
Fraser Syndrome 2
Hypoplasia of the thymus OMIM:617666
Osteogenesis Imperfecta, Type Ii
Small for gestational age, Recurrent fractures, Multiple prenatal fractures, Absent ossification ... OMIM:166210
Isotretinoin-Like Syndrome
Postnatal growth retardation, Intrauterine growth retardation, Lymphopenia ORPHA:2306
Relapsing Fever
Neutrophilia, Leukocytosis, Anemia, Leukopenia, Thrombocytopenia ORPHA:91547
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Splenomegaly, Growth delay, Decreased circulating total IgM, Osteopetrosis, Decreas... OMIM:612301
Osteogenesis Imperfecta, Type Xi
Osteopenia, Joint laxity, Short stature, Recurrent fractures, Increased susceptibility to fractures OMIM:610968
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Osteopenia, Postnatal growth retardation, Cryptorchidism, Generalized joint laxity, Increased sus... ORPHA:251028
Diamond-Blackfan Anemia
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... ORPHA:124
X-Linked Intellectual Disability, Nascimento Type
Recurrent cutaneous abscess formation, Aggressive behavior, Patent ductus arteriosus, Compulsive ... ORPHA:163956
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Abscess, Perianal abscess, Splenomegaly, Hepatosplenomegaly, Impaired oxidative... OMIM:618935
Cardiofacioneurodevelopmental Syndrome
Asplenia, Cryptorchidism, Abdominal situs inversus, Camptodactyly OMIM:619123
Mycetoma
Osteomyelitis, Abnormality of the lymphatic system, Osteoporosis, Painless fractures due to injur... ORPHA:2583
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... OMIM:208540
Reni Syndrome
Lymphopenia, Ataxia OMIM:617575
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Hepatosplenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibo... OMIM:615952
Igg4-Related Submandibular Gland Disease
Eosinophilia, Increased circulating IgG4 level, Cholangitis, Retroperitoneal fibrosis, Abnormalit... ORPHA:449432
Multiple Pterygium Syndrome, Lethal Type
Intrauterine growth retardation, Flexion contracture, Increased susceptibility to fractures, Vert... OMIM:253290
Hajdu-Cheney Syndrome
Osteopenia, Hepatomegaly, Short stature, Recurrent fractures, Splenomegaly, Bone pain, Osteolysis... ORPHA:955
Hermansky-Pudlak Syndrome
Anorexia, Neutropenia ORPHA:79430
Short Stature, Microcephaly, And Endocrine Dysfunction
Broad-based gait, Ataxia, Simplified gyral pattern, Dysmetria, Dysdiadochokinesis, Gait disturban... OMIM:616541
Icf Syndrome
Anemia, Lymphopenia, Abnormality of neutrophils ORPHA:2268
Lethal Congenital Contracture Syndrome Type 1
Limitation of joint mobility, Short stature, Recurrent fractures ORPHA:1486
Acquired Aneurysmal Subarachnoid Hemorrhage
Leukocytosis, Addictive alcohol use ORPHA:90065
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Thrombocytopenia, Lymphopenia, Anemia OMIM:620365
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Ataxia, Gliosis, Astrocytosis OMIM:203700
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating osteocalcin level, Short stature, Osteomalacia, Decreased circulating parat... ORPHA:157215
3-Methylglutaconic Aciduria, Type Viii
Patent ductus arteriosus, Dysphagia, Neutropenia OMIM:617248
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Pathologic fracture OMIM:221770
Neurofibromatosis Type 1
Ataxia, Short stature, Recurrent fractures, Joint stiffness, Abnormality of the endocrine system,... ORPHA:636
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Neutropenia, Thrombocytopenia, Megaloblastic anemia OMIM:277400
Monosomy 22
Contractures of the large joints, Aplasia of the thymus, Hypochromic microcytic anemia, Hepatospl... ORPHA:96123
Geroderma Osteodysplasticum
Osteopenia, Hyperextensibility of the finger joints, Severe short stature, Recurrent fractures, O... OMIM:231070
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... ORPHA:652
Bruck Syndrome
Short stature, Recurrent fractures, Joint stiffness, Osteoporosis, Arthrogryposis multiplex conge... ORPHA:2771
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Decreased circulating antibody level, Decreased circulating tot... ORPHA:90363
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Freezing of gait, Akinesia OMIM:619911
Osteosarcoma
Pathologic fracture, Osteolysis, Weight loss ORPHA:668
Cole-Carpenter Syndrome 2
Osteopenia, Short stature, Recurrent fractures, Postnatal growth retardation, Lambdoidal craniosy... OMIM:616294
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Thrombocytopenia OMIM:619644
Primary Ciliary Dyskinesia
Asplenia, Polysplenia ORPHA:244
Trichothiodystrophy
Neutropenia, Increased mean corpuscular hemoglobin concentration, Anemia, Gait ataxia ORPHA:33364
Renal Glucosuria
Polydipsia, Polyphagia OMIM:233100
Juvenile Paget Disease
Short stature, Recurrent fractures, Osteoporosis ORPHA:2801
Nephronophthisis 4
Polydipsia, Anemia OMIM:606966
Paget Disease Of Bone 2, Early-Onset
Fractures of the long bones, Bone pain, Osteolysis, Increased susceptibility to fractures, Sclero... OMIM:602080
Rothmund-Thomson Syndrome Type 1
Aplastic anemia, Attention deficit hyperactivity disorder, Neutropenia, Leukemia, Anemia ORPHA:221008
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Ataxia, Hypogonadotropic hypogonadism, Re... ORPHA:478
Familial Cold Urticaria
Dysesthesia, Polydipsia ORPHA:47045
Cohen Syndrome
Neutropenia ORPHA:193
Parkinson Disease 17
Akinesia OMIM:614203
Microsporidiosis
Brain abscess, Osteomyelitis, Cholangitis, Cachexia, Abnormality of the spleen, Lymphadenitis, Pe... ORPHA:2552
Mosaic Trisomy 9
Camptodactyly of finger, Asplenia, Cryptorchidism, Limitation of joint mobility, Abnormal liver l... ORPHA:99776
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Neutropenia, Ataxia, Thrombocytopenia, Megaloblastic anemia ORPHA:79282
Proteus-Like Syndrome
Splenomegaly, Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland ORPHA:2969
Whipple Disease
Ataxia, Anorexia, Splenomegaly, Polydipsia, Anemia ORPHA:3452
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Rhizomelia, Small for gestational age, Recurrent fractures, Short stature, Decreased ... OMIM:616229
Congenital Myopathy 9A
Akinesia OMIM:618822
Wiedemann-Rautenstrauch Syndrome
Small for gestational age, Short stature, Cryptorchidism, Flexion contracture, Increased serum te... OMIM:264090
Acute Radiation Syndrome
Lymphopenia, Granulocytopenia, Thrombocytopenia ORPHA:454831
Central Diabetes Insipidus
Polydipsia, Anorexia ORPHA:178029
East Syndrome
Salt craving, Ataxia, Inability to walk, Difficulty walking, Polydipsia ORPHA:199343
Ciliary Dyskinesia, Primary, 1
Asplenia OMIM:244400
Hereditary Central Diabetes Insipidus
Polydipsia ORPHA:30925
Hypocalcemic Vitamin D-Resistant Rickets
Hyperparathyroidism, Short stature, Recurrent fractures, Osteomalacia, Bone pain, Osteolysis ORPHA:93160
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia, Congenital contracture OMIM:619036
Fibrous Dysplasia Of Bone
Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Elevated circulating growth ho... ORPHA:249
Nestor-Guillermo Progeria Syndrome
Short stature, Decreased serum leptin, Limited elbow movement, Joint stiffness, Flexion contractu... OMIM:614008
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteopenia, Osteoporosis, Increased susceptibility to fractures OMIM:612287
Fanconi Renotubular Syndrome 2
Osteopenia, Short stature, Recurrent fractures, Osteomalacia, Bone pain, Rickets, Elevated circul... OMIM:613388
Congenital Disorder Of Glycosylation, Type Iib
Hepatomegaly, Recurrent fractures, Decreased circulating IgA level, Decreased circulating antibod... OMIM:606056
Osteogenesis Imperfecta, Type Iv
Short stature, Recurrent fractures, Reduced bone mineral density, Increased susceptibility to fra... OMIM:166220
Osteogenesis Imperfecta, Type Vi
Joint laxity, Increased susceptibility to fractures OMIM:613982
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteopenia, Osteoporosis, Increased susceptibility to fractures OMIM:612286
Glycogen Storage Disease Ib
Splenomegaly, Neutropenia OMIM:232220
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Anemia ORPHA:54251
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Disproportionate short stature, Increased... OMIM:224300
Arthrogryposis Multiplex Congenita 6
Akinesia OMIM:619334
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Recurrent fractures OMIM:166740
Nephronophthisis 1
Polydipsia, Anemia OMIM:256100
Dpagt1-Cdg
Ataxia, Akinesia, Aggressive behavior, Inability to walk, Head-banging, Stereotypical body rockin... ORPHA:86309
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Short stature, Osteomalacia, Recurrent fractures, Joint stiffness, Thrombocy... ORPHA:534
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Severe short stature, Osteoporosis, Recurrent fractures OMIM:126550
Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Agenesis of pineal gland, Multiple joint contractures, Short stature, Joint hypermobi... ORPHA:536471
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased bone mineral density, Short stature, Recurrent fractures, Ankylosis, Osteop... OMIM:239000
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Polymicrogyria, Akinesia OMIM:225790
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Short stature, Recurrent fractures, Joint hypermobility, Reduced bone mineral density OMIM:619115
Psoriasis 14, Pustular
Leukocytosis, Neutrophilia OMIM:614204
Mccune-Albright Syndrome
Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... OMIM:174800
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2
Short stature, Recurrent fractures, Joint hypermobility OMIM:619120
Arthrogryposis Multiplex Congenita 5
Normocytic anemia, Poikilocytosis, Akinesia, Acanthocytosis OMIM:618947
Right Atrial Isomerism
Asplenia, Abdominal situs ambiguus, Polysplenia OMIM:208530
Sweeney-Cox Syndrome
Asplenia, Bilateral cryptorchidism OMIM:617746
Mitochondrial Complex I Deficiency, Nuclear Type 28
Choreoathetosis, Akinesia, Truncal ataxia OMIM:618249
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Ataxia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Leukopenia, Agitation, Bone... OMIM:615688
Lethal Congenital Contracture Syndrome 2
Akinesia OMIM:607598
Adult-Onset Still Disease
Splenomegaly, Leukocytosis, Neutrophilia, Bone marrow hypocellularity ORPHA:829
Metaphyseal Chondrodysplasia, Jansen Type
Hypoparathyroidism, Osteopenia, Hip contracture, Severe short stature, Knee flexion contracture, ... OMIM:156400
Solitary Bone Cyst
Pathologic fracture, Bone pain ORPHA:83468
Supranuclear Palsy, Progressive, 2
Akinesia, Gliosis, Falls, Gait imbalance, Dysphagia OMIM:609454
Nephronophthisis-Like Nephropathy 2
Polydipsia OMIM:619468
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Osteopenia, Rhizomelia, Short stature, Recurrent fractures, Accelerated skeletal maturation, Join... OMIM:245600
Secondary Non-Traumatic Avascular Necrosis
Addictive alcohol use, Difficulty walking ORPHA:399180
Bardet-Biedl Syndrome 9
Polydipsia, Polyphagia OMIM:615986
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... OMIM:105650
Heterotaxy, Visceral, 2, Autosomal
Asplenia, Abdominal situs inversus, Polysplenia OMIM:605376
Hypophosphatemic Rickets, X-Linked Recessive
Short stature, Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Bone pain, Ric... OMIM:300554
Geroderma Osteodysplastica
Severe short stature, Recurrent fractures, Osteoporosis, Growth delay, Joint hyperflexibility, Ab... ORPHA:2078
Oncogenic Osteomalacia
Pathologic fracture, Bone pain, Increased susceptibility to fractures ORPHA:352540
Schimmelpenning-Feuerstein-Mims Syndrome
Osteopenia, Short stature, Recurrent fractures, Precocious puberty, Growth delay, Hypophosphatemi... OMIM:163200
Nephronophthisis 11
Polydipsia, Anemia OMIM:613550
Osteofibrous Dysplasia, Susceptibility To
Pathologic fracture OMIM:607278
Macrocephaly/Autism Syndrome
Splenomegaly, Lymphopenia OMIM:605309
Cartilage-Hair Hypoplasia
Anemia, Neutropenia ORPHA:175
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Neutropenia OMIM:271510
Osteogenesis Imperfecta, Type Xxi
Recurrent fractures, Osteoporosis, Disproportionate short-limb short stature, Joint hypermobility OMIM:619131
Osteoglophonic Dysplasia
Osteopenia, Severe short stature, Rhizomelia, Camptodactyly of finger, Craniosynostosis, Cryptorc... OMIM:166250
Congenital Alveolar Capillary Dysplasia
Asplenia, Absent gallbladder, Annular pancreas ORPHA:210122
Familial Dysautonomia
Abnormal peritoneum morphology, Ataxia, Recurrent fractures, Impaired pain sensation, Osteolysis,... ORPHA:1764
Congenital Myopathy 12
Akinesia OMIM:612540
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os... OMIM:112250
Cole-Carpenter Syndrome 1
Osteopenia, Short stature, Recurrent fractures, Reduced bone mineral density, Coronal craniosynos... OMIM:112240
Fetal Akinesia Deformation Sequence
Akinesia ORPHA:994
Severe Congenital Nemaline Myopathy
Multiple prenatal fractures, Arthrogryposis multiplex congenita, Flexion contracture ORPHA:171430
Antley-Bixler Syndrome
Camptodactyly of finger, Recurrent fractures, Craniosynostosis, Joint stiffness, Elbow ankylosis ORPHA:83
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Asplenia, Short stature OMIM:619657
Truncus Arteriosus
Intrauterine growth retardation, Adrenocortical abnormality, Hypoplasia of the thymus ORPHA:3384
Idiopathic Juvenile Osteoporosis
Bone pain, Recurrent fractures, Osteoporosis ORPHA:85193
Dent Disease 1
Short stature, Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Bone pain, Ric... OMIM:300009
Osteogenesis Imperfecta, Type I
Osteopenia, Recurrent fractures, Increased susceptibility to fractures, Finger joint hypermobilit... OMIM:166200
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Multiple prenatal fractures, Arthrogryposis multiplex congenita, Flexion contracture OMIM:616866
Dysosteosclerosis
Increased bone mineral density, Short stature, Recurrent fractures ORPHA:1782
Premature Aging Syndrome, Penttinen Type
Flexion contracture of finger, Recurrent fractures, Delayed skeletal maturation, Elevated circula... OMIM:601812
Proteasome-Associated Autoinflammatory Syndrome 3
Splenomegaly, Thrombocytopenia, Lymphopenia, Anemia OMIM:617591
Cystinosis
Abnormal repetitive mannerisms, Polydipsia, Gait disturbance ORPHA:213
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Hypersplenism, Pancytopenia, Neutropenia in presence of anti-neutropil antibodies, Hepatosplenome... ORPHA:228426
Brittle Cornea Syndrome
Joint hyperflexibility, Osteoporosis, Camptodactyly, Increased susceptibility to fractures ORPHA:90354
Stuve-Wiedemann Syndrome 1
Short stature, Impaired pain sensation, Osteoporosis, Elbow flexion contracture, Knee flexion con... OMIM:601559
Cerebrotendinous Xanthomatosis
Osteopenia, Somatic sensory dysfunction, Ataxia, Osteoporosis, Increased susceptibility to fractu... ORPHA:909
Senior-Loken Syndrome 1
Polydipsia, Anemia OMIM:266900
Cole-Carpenter Syndrome
Intrauterine growth retardation, Short stature, Recurrent fractures, Joint hyperflexibility ORPHA:2050
Pseudoaminopterin Syndrome
Short stature, Limited elbow movement, Sagittal craniosynostosis, Asplenia, Cryptorchidism, Patch... ORPHA:221120
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Joint hypermobility, Recurrent fractures, Generalized osteoporosis OMIM:617952
Spinal muscular atrophy, type I, with congenital bone fractures
Osteopenia, Flexion contracture, Multiple prenatal fractures OMIM:271225
Methanol Poisoning
Addictive alcohol use ORPHA:31825
Keppen-Lubinsky Syndrome
Postnatal growth retardation, Flexion contracture, Increased susceptibility to fractures, Failure... ORPHA:435628
Pneumocystosis
Abnormal neutrophil count ORPHA:723
Stüve-Wiedemann Syndrome
Osteopenia, Short stature, Recurrent fractures, Camptodactyly of finger, Impaired pain sensation,... ORPHA:3206
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Small for gestational age, Short stature, Chronic pancreatitis, Crypto... OMIM:307030
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Recurrent fractures, Craniosynostosis, Postnatal growth ... ORPHA:536467
Marshall-Smith Syndrome
Decreased hip abduction, Short stature, Recurrent fractures, Large sternal ossification centers, ... OMIM:602535
Generalized Pustular Psoriasis
Leukocytosis, Lymphopenia ORPHA:247353
Wolfram Syndrome
Polydipsia, Ataxia, Anemia ORPHA:3463
Cleidocranial Dysplasia
Decreased skull ossification, Short stature, Recurrent fractures, Osteoporosis ORPHA:1452
Senior-Boichis Syndrome
Aggressive behavior, Hepatosplenomegaly, Agitation, Attention deficit hyperactivity disorder, Pol... ORPHA:84081
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Hyperextensibility of the finger joints, Short stature, Recurrent fractures, Cryptorchidism, Oste... OMIM:309583
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Short stature, Recurrent fractures, Rickets OMIM:268315
Renal Tubular Acidosis, Distal, 1
Pathologic fracture, Osteomalacia OMIM:179800
Osteogenesis Imperfecta, Type Xx
Multiple prenatal fractures, Intrauterine growth retardation, Disproportionate short-limb short s... OMIM:618644
Osteogenesis Imperfecta, Type Viii
Osteopenia, Joint laxity, Recurrent fractures, Multiple prenatal fractures, Decreased calvarial o... OMIM:610915
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Short stature, Recurrent fractures, Tracheomalacia, Tracheobr... ORPHA:140
Zygomycosis
Brain abscess, Splenic abscess, Neutropenia ORPHA:73263
Thauvin-Robinet-Faivre Syndrome
Transient neutropenia OMIM:617107
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Transient neutropenia, Chronic neutropenia ORPHA:500095
Erdheim-Chester Disease
Polydipsia, Ataxia, Anemia ORPHA:35687
Al-Gazali Syndrome
Osteopenia, Proximal radio-ulnar synostosis, Recurrent fractures, Failure to thrive, Wrist flexio... OMIM:609465
Grange Syndrome
Increased susceptibility to fractures, Recurrent fractures, Decreased body weight OMIM:602531
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Athetosis, Polydipsia ORPHA:369929
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Anemia ORPHA:935
Glycogen Storage Disease Ic
Cyclic neutropenia OMIM:232240
Feingold Syndrome 1
Asplenia, Annular pancreas, Polysplenia, Accessory spleen OMIM:164280
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Short stature, Recurrent fractures, Osteoporosis, Increased susceptibility to fractur... OMIM:259770
Arima Syndrome
Gray matter heterotopia, Polydipsia, Ataxia, Anemia OMIM:243910
Hajdu-Cheney Syndrome
Osteopenia, Joint laxity, Short stature, Cryptorchidism, Osteoporosis, Foot acroosteolysis, Osteo... OMIM:102500
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Anorexia, Oral-pharyngeal dysphagia, Renal tubular epithelial necrosis, Neutropenia, Anemia ORPHA:95455
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Block vertebrae, Asplenia, Biliary atresia, Abdominal situs inversus, Polysplenia, ... OMIM:306955
Porphyria Cutanea Tarda
Abnormal erythrocyte enzyme level, Addictive alcohol use, Cutaneous abscess ORPHA:101330
Sweet Syndrome
Acute myeloid leukemia, Neutrophilia, Leukocytosis, Chronic lymphatic leukemia, Anemia, Sterile a... ORPHA:3243
Brittle Cornea Syndrome 2
Recurrent fractures, Joint hypermobility OMIM:614170
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Splenomegaly, Neutrophilia, Abscess OMIM:612852
Exudative Vitreoretinopathy 1
Recurrent fractures OMIM:133780
Meckel Syndrome, Type 1
Accessory spleen, Camptodactyly of finger, Malformation of the hepatic ductal plate, Adrenal hypo... OMIM:249000
African Trypanosomiasis
Somatic sensory dysfunction, Akinesia, Aggressive behavior, Splenomegaly, Impaired proprioception... ORPHA:3385
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Osteopenia, Joint laxity, Short stature, Recurrent fractures, Craniosynostosis, Accelerated skele... OMIM:130070
Menkes Disease
Osteomyelitis, Recurrent fractures, Tarsal synostosis, Chorea, Osteoporosis, Joint hyperflexibili... ORPHA:565
Isolated Osteopoikilosis
Addictive alcohol use ORPHA:166119
Common Variable Immunodeficiency
Splenomegaly, Hemolytic anemia, Lymphopenia, Autoimmune thrombocytopenia ORPHA:1572
Panhypophysitis
Normochromic anemia, Polydipsia ORPHA:95513
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Polydipsia, Dysdiadochokinesis, Salt craving, Ataxia OMIM:612780
Meckel Syndrome
Accessory spleen, Pancreatic fibrosis, Asplenia, Congenital hepatic fibrosis, Pancreatic cysts, C... ORPHA:564
Parkinson Disease 23, Autosomal Recessive Early-Onset
Akinesia OMIM:616840
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Absent nipple, Aplasia of the thymus, Short stature, Congenital hypothyroidism, Hydrocele testis,... OMIM:620186
Ochoa Syndrome
Polydipsia ORPHA:2704
Hallermann-Streiff Syndrome
Recurrent fractures, Proportionate short stature, Cryptorchidism, Reduced bone mineral density, A... ORPHA:2108
Cleidocranial Dysplasia 1
Increased bone mineral density, Short stature, Moderately short stature, Increased susceptibility... OMIM:119600
Idiopathic Hypereosinophilic Syndrome
Somatic sensory dysfunction, Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenome... ORPHA:3260
Osteogenesis Imperfecta, Type Xvii
Joint laxity, Short stature, Recurrent fractures, Osteoporosis, Reduced bone mineral density OMIM:616507
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Increased susceptibility to fractures ORPHA:2769
Leukocyte Adhesion Deficiency Type Ii
Neutrophilia, Ataxia, Microcytic anemia, Leukocytosis, Impaired tandem gait, Anemia ORPHA:99843
Familial Hyperaldosteronism Type I
Polydipsia ORPHA:403
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Joint laxity, Severe short stature, Delayed proximal femoral epiphyseal ossification, Flexion con... OMIM:271640
Acute Lung Injury
Addictive alcohol use ORPHA:178320
X-Linked Intellectual Disability, Snyder Type
Short stature, Recurrent fractures, Cryptorchidism, Osteoporosis, Abnormality of the Leydig cells... ORPHA:3063
Bardet-Biedl Syndrome 17
Polydipsia OMIM:615994
Primary Fanconi Renotubular Syndrome
Osteomalacia, Bone pain, Weight loss, Growth delay, Increased susceptibility to fractures, Hypoph... ORPHA:3337
Gitelman Syndrome
Polydipsia, Salt craving, Ataxia, Paresthesia OMIM:263800
Teratoma, Pineal
Polydipsia OMIM:273120
Tetraamelia Syndrome 1
Asplenia, Adrenal gland agenesis OMIM:273395
Familial Hyperaldosteronism Type Iii
Polydipsia ORPHA:251274
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Osteopenia, Diabetes mellitus, Cryptorchidism, Jaundice, Obesity, Hypogonadism, Pathologic fracture OMIM:614231
Hyper-Igd Syndrome
Splenomegaly, Leukocytosis, Neutrophilia, Hepatosplenomegaly OMIM:260920
Marburg Hemorrhagic Fever
Lymphopenia, Reticulocytosis, Anorexia, Aggressive behavior, Dysesthesia, Neutrophilia in presenc... ORPHA:99826
Acquired Central Diabetes Insipidus
Polydipsia ORPHA:95626
Lowe Oculocerebrorenal Syndrome
Short stature, Osteomalacia, Camptodactyly of finger, Postnatal growth retardation, Cryptorchidis... OMIM:309000
Sapho Syndrome
Osteomyelitis, Recurrent fractures, Craniofacial osteosclerosis, Bone pain, Osteolysis, Synovitis... ORPHA:793
Classic Homocystinuria
Hepatomegaly, Osteoporosis, Recurrent fractures, Joint stiffness ORPHA:394
Heterotaxy, Visceral, 5, Autosomal
Asplenia, Intrauterine growth retardation, Abdominal situs ambiguus, Abdominal situs inversus OMIM:270100
Dent Disease
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Bone pain, Rickets ORPHA:1652
Mowat-Wilson Syndrome
Ataxia, Short stature, Recurrent fractures, Impaired pain sensation, Asplenia, Cryptorchidism, De... ORPHA:2152
Ethylene Glycol Poisoning
Addictive alcohol use, Ataxia, Renal tubular epithelial necrosis ORPHA:31826
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia OMIM:304800
Nephrogenic Diabetes Insipidus
Polydipsia, Anorexia ORPHA:223
Familial Mediterranean Fever
Splenomegaly, Leukocytosis, Neutrophilia OMIM:249100
Septo-Optic Dysplasia Spectrum
Polydipsia ORPHA:3157
Primary Hyperoxaluria
Generalized osteosclerosis, Failure to thrive, Bone pain, Recurrent fractures ORPHA:416
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Asplenia, Annular pancreas, Pulmonary lymphangiectasia OMIM:265380
Sponastrime Dysplasia
Neutropenia ORPHA:93357
Hyperaldosteronism, Familial, Type Iii
Polydipsia OMIM:613677
Proteus Syndrome
Thymus hyperplasia, Cachexia, Testicular neoplasm, Neoplasm of the thymus, Splenomegaly, Enlarged... ORPHA:744
Primary Unilateral Adrenal Hyperplasia
Polydipsia ORPHA:231580
Apparent Mineralocorticoid Excess
Polydipsia ORPHA:320
Senior-Loken Syndrome 3
Polydipsia OMIM:606995
Gitelman Syndrome
Iron deficiency anemia, Polydipsia, Salt craving, Paresthesia ORPHA:358
Autosomal Recessive Cutis Laxa Type 1
Joint laxity, Intrauterine growth retardation, Severe short stature, Pathologic fracture ORPHA:90349
Reynolds Syndrome
Splenomegaly, Lymphopenia OMIM:613471
Hyperoxaluria, Primary, Type I
Pathologic fracture, Increased bone mineral density, Bone pain OMIM:259900
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Neutrophilia, Anorexia, Splenomegaly, Leukocytosis, Leukopenia, Agitation, Thromboc... ORPHA:99827
Osteogenesis Imperfecta, Type Vii
Osteopenia, Rhizomelia, Short stature, Recurrent fractures, Multiple prenatal fractures, Decrease... OMIM:610682
Cirrhotic Cardiomyopathy
Addictive alcohol use ORPHA:57777
Autosomal Recessive Polycystic Kidney Disease
Hypersplenism, Splenomegaly, Hepatosplenomegaly, Polydipsia, Thrombocytopenia ORPHA:731
Nephronophthisis 3
Polydipsia OMIM:604387
Renal Hypoplasia
Polydipsia ORPHA:93101
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Short stature, Impaired pain sensation, Asplenia, Cryptorchidism, Delayed skeletal maturation, Fl... ORPHA:261537
Pituitary Dermoid And Epidermoid Cysts
Polydipsia ORPHA:91351
Cystinosis, Nephropathic
Splenomegaly, Polydipsia, Dysphagia, Oral-pharyngeal dysphagia OMIM:219800
Oligomeganephronia
Polydipsia ORPHA:2260
Rabson-Mendenhall Syndrome
Polydipsia ORPHA:769
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Aggressive behavior, Impaired pain sensation, Self-injurious behavior, Compulsive behaviors, Poly... ORPHA:293987
Helix Syndrome
Polydipsia OMIM:617671
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Short stature, Impaired pain sensation, Asplenia, Cryptorchidism, Delayed skeletal maturation, Fl... ORPHA:261552
Hypomagnesemia 3, Renal
Polydipsia OMIM:248250
Infantile Nephropathic Cystinosis
Polydipsia ORPHA:411629
Hyperparathyroidism-Jaw Tumor Syndrome
Polydipsia, Dysphagia ORPHA:99880
Parathyroid Carcinoma
Polydipsia, Dysphagia ORPHA:143
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Polydipsia ORPHA:93111
Juvenile Nephropathic Cystinosis
Polydipsia ORPHA:411634
Bartter Syndrome, Type 2, Antenatal
Polydipsia, Paresthesia OMIM:241200
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Polydipsia OMIM:602522
Proximal Renal Tubular Acidosis
Polydipsia ORPHA:47159

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Hax1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Hax1.

No publications found that use IMPC mice or data for Hax1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Hax1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Hax1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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