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Gene: Sfrp1 MGI:892014

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Gene Summary

Name:
secreted frizzled-related protein 1
Synonyms:
sFRP-1,  2210415K03Rik

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased bone mineral content Sfrp1tm1Aksh HOM Early adult 6.00×10-06
decreased bone mineral density Sfrp1tm1Aksh HOM Early adult 3.75×10-06
abnormal iris morphology Sfrp1tm1Aksh HOM Early adult 4.01×10-05
abnormal pupil morphology Sfrp1tm1Aksh HOM   Early adult 1.45×10-05
increased total body fat amount Sfrp1tm1Aksh HOM Early adult 1.45×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Sfrp1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Sfrp1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Anterior Segment Dysgenesis 3
Peters anomaly, Ectopia pupillae, Rieger anomaly, Abnormal iris vasculature, Axenfeld anomaly, Po... OMIM:601631
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Whim Syndrome 2
Tetralogy of Fallot, Chronic neutropenia OMIM:619407
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Microphthalmia/Coloboma 10
Iris coloboma, Microcoria, Chorioretinal coloboma OMIM:616428
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... OMIM:177650
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m... OMIM:225200
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia, Neutropenia, He... OMIM:615285
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Keratoconus, Ectopia pupillae, Inguinal hernia, Corneal dystrophy OMIM:609141
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Corneal dystrophy, Ectopia pupillae OMIM:612868
Trimethylaminuria
Anemia, Splenomegaly, Neutropenia OMIM:602079
Iridocorneal Endothelial Syndrome
Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, Abnormal mi... ORPHA:64734
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia OMIM:616022
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Hemochromatosis, Type 3
Increased circulating iron concentration, Cardiomyopathy, Increased circulating ferritin concentr... OMIM:604250
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Myopathy, Tubular Aggregate, 1
Flexion contracture, Abnormal pupil morphology, Joint contracture OMIM:160565
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Anemia, Neutropenia... OMIM:603552
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... OMIM:122000
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Neutropenia, Abnormal T cell morphology OMIM:615214
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Ras-Associated Autoimmune Leukoproliferative Disorder
Leukemia, Pancytopenia, Splenomegaly, Lymphocytosis, Neutropenia, Monocytosis, Hepatomegaly, Auto... OMIM:614470
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Abnormal heart morphology, T lymphocytopenia, Hypocalcemia DECIPHER:16
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:94090
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed epiphyseal ossification, Hyperphosphatemia, Hypocalcemia OMIM:618618
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia OMIM:617585
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... ORPHA:75564
Immunodeficiency 24
Lymphopenia, Decreased proportion of memory B cells, Reduced proportion of mucosal-associated inv... OMIM:615897
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei OMIM:310350
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Hypophosphatemia, Craniosynostosis, Increased bone mineral den... OMIM:241520
Microcoria, Congenital
Hypoplasia of the iris dilator muscle, Microcoria OMIM:156600
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:2239
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia OMIM:610798
Fanconi Anemia, Complementation Group G
Leukemia, Anemia, Neutropenia, Thrombocytopenia OMIM:614082
Calciphylaxis
Cellulitis, Ectopic ossification, Hyperphosphatemia ORPHA:280062
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Enamel hypomineralization, Iron deficiency anemia, Neutropenia, Thrombocytopenia, Increased mean ... ORPHA:494444
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Neutropenia OMIM:616949
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology ORPHA:101082
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... OMIM:619041
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia ORPHA:859
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Iris cyst OMIM:620086
Pseudohypoparathyroidism Type 1B
Hyperphosphatemia, Hypocalcemic tetany, Increased bone density with cystic changes, Hypocalcemia,... ORPHA:94089
Facial Spasm
Anisocoria OMIM:134300
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Agammaglobulinemia 3, Autosomal Recessive
Absent circulating B cells, Neutropenia, Abnormal T cell morphology OMIM:613501
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-... OMIM:620481
Isolated Ectopia Lentis
Cataract, Joint stiffness, Ectopia lentis, Ectopia pupillae ORPHA:1885
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Disabling Pansclerotic Morphea Of Childhood
Elevated circulating C-reactive protein concentration, Lymphopenia, Neutropenia, Joint contracture OMIM:620443
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:146200
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Autoimmune Hypoparathyroidism
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Increased bone mineral density, Hypocalcemi... ORPHA:36913
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me... ORPHA:98973
Short Syndrome
Hypoplasia of the iris, Megalocornea, Abnormal dental enamel morphology, Abnormal pupil morpholog... ORPHA:3163
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... OMIM:309300
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal... OMIM:308240
Folate Malabsorption, Hereditary
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:229050
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a... OMIM:159550
Bone Marrow Failure Syndrome 6
Osteopenia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutrope... OMIM:618849
Woolly Hair
Cataract, Abnormal pupil morphology ORPHA:170
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Cellulitis, Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly... OMIM:618986
Pseudohypoparathyroidism, Type Ic
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Enamel hypoplasia, Osteoporosis OMIM:612462
Refractory Anemia
Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Erythroid hypoplasia, Neut... ORPHA:98826
Diamond-Blackfan Anemia 4
Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Atrial septal defect, Neutropenia OMIM:612527
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Neutropenia, B lymphocytopenia, Intermittent throm... OMIM:150550
X-Linked Recessive Ocular Albinism
Iris hypopigmentation, Abnormal pupil morphology, Astigmatism, Ocular albinism ORPHA:54
Pontocerebellar Hypoplasia, Type 15
Anemia, Chronic neutropenia, Thrombocytopenia OMIM:619302
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hemophagocytosis, Increased circulating ferritin concentration... ORPHA:158057
Pseudohypoparathyroidism, Type Ia
Hyperphosphatemia, Hypocalcemic tetany, Enamel hypoplasia, Subcutaneous ossification, Osteoporosis OMIM:103580
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Kenny-Caffey Syndrome, Type 2
Hyperphosphatemia, Hypocalcemia, Thickened cortex of long bones, Transient hypophosphatemia, Anem... OMIM:127000
Reticular Dysgenesis
Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus OMIM:267500
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Woolly Hair Nevus
Heterochromia iridis, Persistent pupillary membrane ORPHA:79414
Microphthalmia/Coloboma 7
Inferior chorioretinal coloboma, Iris coloboma OMIM:614497
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hyperphosphatemia, Hyperostosis, Enamel hypoplasia, Subperiosteal bone formation, Calcinosis, Hyp... OMIM:211900
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Iris coloboma, Cervical C3/C4 vertebral fusion, Chorioretinal co... OMIM:613702
Blue Diaper Syndrome
Hypercalcemia, Hyperphosphatemia ORPHA:94086
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Microphthalmia/Coloboma 3
Cataract, Iris coloboma OMIM:610092
Proteus-Like Syndrome
Cataract, Subcutaneous lipoma, Abnormal pupil morphology, Hyperostosis, Heterochromia iridis, Lim... ORPHA:2969
Immunodeficiency 46
Anemia, Neutropenia, Intermittent thrombocytopenia OMIM:616740
Autosomal Dominant Severe Congenital Neutropenia
Cellulitis, Osteopenia, Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutr... ORPHA:486
Specific Granule Deficiency 1
Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,... OMIM:245480
Agammaglobulinemia 4, Autosomal Recessive
Neutropenia, Abnormal T cell morphology OMIM:613502
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Hyperphosphatemia, Metacarpal periosteal thickening, Calvarial osteosclerosis, Hyperc... OMIM:617994
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... ORPHA:169154
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Cardiomyopathy, Splenomegaly, Hyperammonemia, Anemia, Neutropenia, Thrombocytopenia, Hepatomegaly ORPHA:79312
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Hypertrophic cardiomyopathy, Absent circulating B cells, Decreased proportion of class-switched m... OMIM:619705
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Hyperphosphatemia, Hyperuricemia, Hydroxyprolinemia, Osteoporosis, Increased bone min... OMIM:239000
Refractory Celiac Disease
Hypoalbuminemia, Normocytic anemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology... ORPHA:398063
Adult Idiopathic Neutropenia
Monocytopenia, Lymphopenia, Neutropenia, Monocytosis ORPHA:2688
Immunodeficiency 98 With Autoinflammation, X-Linked
Hemophagocytosis, Agranulocytosis, Splenomegaly, Autoimmune hemolytic anemia, B lymphocytopenia, ... OMIM:301078
Slc35A1-Cdg
Cellulitis, Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia ORPHA:238459
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Absent circulating B cells OMIM:619707
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane... OMIM:221900
Griscelli Syndrome Type 2
Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenomegaly, Neutropenia, Hepatomegaly ORPHA:79477
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:241410
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Splenomegaly, De... OMIM:617514
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Hypophosphatemia, Hypocalcemia OMIM:619073
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hyperammonemia, Anemia, Thrombocytopenia, Neutropenia, Hepatomegaly ORPHA:289916
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia OMIM:616738
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia, Elevated circulating alpha-fetoprotein concentration OMIM:617243
Specific Granule Deficiency 2
Osteopenia, Absent neutrophil specific granules, Amelogenesis imperfecta, Thrombocytopenia, Neutr... OMIM:617475
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Osteomalacia, Hypocalcemia, Tooth abscess, Hypophosphatemia, Iron deficiency anemia ORPHA:89937
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... OMIM:615615
Deafness, Autosomal Recessive 108
Iris coloboma OMIM:617654
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology ORPHA:2151
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Immunodeficiency 105
Reduced natural killer cell count, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired lympho... OMIM:619924
Immunodeficiency 8 With Lymphoproliferation
Lymphopenia OMIM:615401
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast... ORPHA:98850
Coats Disease
Leukocoria OMIM:300216
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hypomagnesemia, Leukocytosis, Hypocalcemia, Hyperuricemia, Elevated circulatin... ORPHA:94093
Bilateral Acute Depigmentation Of The Iris
Abnormal corneal endothelium morphology, Pigment deposition in the trabecular meshwork, Abnormal ... ORPHA:69736
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia OMIM:606843
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis OMIM:247800
Fuchs Heterochromic Iridocyclitis
Cataract, Chorioretinal scar, Corneal keratic precipitates, Iris atrophy, Heterochromia iridis, A... ORPHA:263479
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Whim Syndrome 1
Neutropenia OMIM:193670
Alexander Disease
Microcoria OMIM:203450
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Hemolytic an... ORPHA:444463
Hypophosphatemic Bone Disease
Hypophosphatemia, Rickets, Osteomalacia OMIM:146350
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Elevated circulating creatinine concentration, Neutropenia, Hyperuricemia OMIM:617056
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemia, Hypophosphatemic rickets, Rickets, Osteomalacia OMIM:193100
Pelger-Huet Anomaly
Giant platelets, Umbilical hernia, Ventricular septal defect, Hyposegmentation of neutrophil nucl... OMIM:169400
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Neutropenia, Megaloblastic anemia, Thrombocytopenia OMIM:598500
Immunodeficiency 102
Reduced natural killer cell count, Increased proportion of CD8-positive, alpha-beta TEMRA T cells... OMIM:301082
Hec Syndrome
Abnormal pupil morphology, Developmental cataract ORPHA:2119
Hypocalcemic Vitamin D-Resistant Rickets
Coarse metaphyseal trabecularization, Osteomalacia, Hypocalcemia, Hypophosphatemia, Abnormal adip... ORPHA:93160
2Q24 Microdeletion Syndrome
Cataract, Abnormality iris morphology, Camptodactyly of finger ORPHA:1617
Immunodeficiency 7
Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia, Hepatomegaly OMIM:615387
Sanjad-Sakati Syndrome
Abnormal dental enamel morphology, Patchy osteosclerosis, Hyperphosphatemia, Hypocalcemia ORPHA:2323
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Elevated circulating propionylcarnitine concentration, Inguinal hernia, Hypomethioninemia, Hyperh... OMIM:614857
Microcephalic Primordial Dwarfism, Toriello Type
Enamel hypoplasia, Neutropenia ORPHA:2643
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Hypochromic anemia, Rickets, Cardiomyopathy, Osteomalacia, Leuko... ORPHA:289157
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase ORPHA:99845
Propionic Acidemia
Cardiomyopathy, Pancytopenia, Hyperglycinemia, Hyperammonemia, Anemia, Neutropenia, Thrombocytope... OMIM:606054
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... OMIM:619802
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil ... OMIM:619220
Macrophage Activation Syndrome
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, He... ORPHA:158061
Norrie Disease
Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria, Corneal opacit... OMIM:310600
Neovascular Glaucoma
Rubeosis iridis, Uveal ectropion, Conjunctival hyperemia, Corneal stromal edema, Abnormal anterio... ORPHA:94058
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Corneal opacity, Cortical pulverul... OMIM:610202
Immunodeficiency 76
Lymphopenia, T lymphocytopenia, Splenomegaly, B lymphocytopenia OMIM:619164
Uveal Melanoma
Inferior lens subluxation, Mydriasis, Iris melanoma, Ciliary body melanoma, Zonular cataract ORPHA:39044
Weill-Marchesani Syndrome 4
Ectopia lentis, Posterior synechiae of the anterior chamber, Phakodonesis, Joint stiffness, Irido... OMIM:613195
Autosomal Dominant Kenny-Caffey Syndrome
Hyperphosphatemia, Hypocalcemic tetany, Cortical thickening of long bone diaphyses, Decreased sku... ORPHA:93325
Phacoanaphylactic Uveitis
Posterior uveitis, Anterior chamber flare grade 1+, Panuveitis, Hypopyon, Posterior synechiae of ... ORPHA:209959
Unilateral Ocular Duplication
Microcornea, Abnormal pupil morphology, Iris coloboma ORPHA:3374
Congenital Enterovirus Infection
Hypoalbuminemia, Cardiomyopathy, Leukopenia, Leukocytosis, Hyperammonemia, Abnormal macrophage mo... ORPHA:292
Immunodeficiency 67
Abnormal T cell count, Transient neutropenia, Abnormal B cell count, Abnormal natural killer cell... OMIM:607676
Aniridia 1
Chorioretinal hypopigmentation, Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupilla... OMIM:106210
Familial Isolated Hyperparathyroidism
Osteopenia, Chondrocalcinosis, Hypophosphatemia, Generalized osteoporosis, Hypercalcemia ORPHA:99879
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Anisocoria OMIM:300858
Felty Syndrome
Cellulitis, Abnormal lymphocyte morphology, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia, ... ORPHA:47612
Developmental And Epileptic Encephalopathy 66
Ventricular septal defect, Atrial septal defect, Neutropenia, Dextrocardia, Anemia OMIM:618067
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Immunodeficiency 110 With Lymphoproliferation
Secundum atrial septal defect, Lymphopenia, Autoimmune hemolytic anemia, Patent foramen ovale, Ne... OMIM:614868
Axenfeld-Rieger Syndrome, Type 3
Ectopia pupillae, Posterior embryotoxon, Posterior synechiae of the anterior chamber, Hypoplasia ... OMIM:602482
Familial Dysautonomia
Osteolysis, Abnormal pupil morphology, Heterochromia iridis, Corneal opacity, Recurrent fractures... ORPHA:1764
Neonatal Lupus Erythematosus
Dilated cardiomyopathy, Aplastic anemia, Abnormal heart morphology, Pancytopenia, Splenomegaly, A... ORPHA:398124
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cardiomyopathy, Leukopenia, Hyperglycinemia, Hyperammonemia, Neutropenia, Thrombocytopenia, Hepat... OMIM:251000
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Elevated circulating creatinine concentration, Lymphopenia, Leukopenia, Reduced haptoglobin level... OMIM:301110
Pseudohypoparathyroidism Type 1C
Ectopic ossification, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Enamel hypoplasia, Ca... ORPHA:79444
Cernunnos-Xlf Deficiency
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia ORPHA:169079
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Pancytopenia, Decreased proportion of CD4-positive helper T cells, Autoim... ORPHA:572
Aniridia 2
Lens subluxation, Cataract, Aniridia, Iris coloboma OMIM:617141
Methylmalonic Aciduria, Cblb Type
Dilated cardiomyopathy, Elevated circulating propionylcarnitine concentration, Pancytopenia, Hype... OMIM:251110
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Hypocalcemia, Sparse bone trabeculae, Hypophosphatemia,... OMIM:600081
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteoporosis, Osteopenia, Hypophosphatemia OMIM:612287
Pseudohypoparathyroidism Type 1A
Ectopic ossification, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Enamel hypoplasia, Ca... ORPHA:79443
Autoimmune Lymphoproliferative Syndrome
Splenomegaly, Autoimmune hemolytic anemia, Elevated proportion of CD4-negative, CD8-negative, alp... OMIM:601859
Immunodeficiency, Common Variable, 1
Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Neutr... OMIM:607594
Autosomal Dominant Hypocalcemia
Reduced bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:428
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia OMIM:618752
Dyskeratosis Congenita, Autosomal Dominant 2
Dilated cardiomyopathy, Aplastic anemia, Pancytopenia, Leukopenia, Neutropenia, Thrombocytopenia,... OMIM:613989
Acrodysostosis 1 With Or Without Hormone Resistance
Neonatal epiphyseal stippling, Epiphyseal stippling, Hyperphosphatemia, Calvarial hyperostosis OMIM:101800
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Elliptocytosis, Macrocytic anemia, Anisocytosis, Neutropenia, P... OMIM:300835
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Lymphopenia, Leukopenia, Splenomegaly, Ventricular septal defect, Hepatomegaly, Reduced bone mine... OMIM:620210
X-Linked Agammaglobulinemia
Cellulitis, Hypocalcemia, Neutropenia, Thrombocytopenia, Anemia, Recurrent cutaneous abscess form... ORPHA:47
Wolcott-Rallison Syndrome
Hypoalbuminemia, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Iron deficiency anemia, Double... ORPHA:1667
Immunodeficiency 95
Lymphopenia OMIM:619773
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Microspherophakia, Ectopia lentis, Megalocornea, Iridodonesis, Buphthalmos, Deep anterior chamber OMIM:251750
Barth Syndrome
Dilated cardiomyopathy, Elevated monolysocardiolipin/cardiolipin ratio, Hypertrophic cardiomyopat... OMIM:302060
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Abnor... ORPHA:158048
Chromosome 16Q12 Duplication Syndrome
Cataract, Anisocoria OMIM:619649
Idiopathic Aplastic Anemia
Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia ORPHA:88
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Reduced natural killer cell count, Cutaneous abscess, Neutropenia OMIM:619752
Malignant Hyperthermia Of Anesthesia
Cardiomyocyte mitochondrial proliferation, Hyperkalemia, Hyperphosphatemia, Elevated creatine kin... ORPHA:423
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Rickets, Hypophosphatemic rickets, Sparse bone trabeculae, Hypop... OMIM:241530
Autoinflammatory Disease, Systemic, X-Linked
Hepatosplenomegaly, Panniculitis, Neutropenia, B lymphocytopenia OMIM:301081
Diamond-Blackfan Anemia 7
Osteopenia, Secundum atrial septal defect, Increased mean corpuscular volume, Tetralogy of Fallot... OMIM:612562
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Pancytopenia, Macrocytic anemia, Hypomethioninemia, Hyperhomoc... ORPHA:2169
Immunodeficiency 32B
Hypoalbuminemia, Impaired oxidative burst, Splenomegaly, Anemia, Eosinophilia, Monocytopenia, Thr... OMIM:226990
Immunodeficiency 13
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... OMIM:615518
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteoporosis, Osteopenia, Hypophosphatemia OMIM:612286
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Neutropenia, Megaloblastic anemia, Hyperhomocystinemia, Hypomethioninemia OMIM:250940
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Rickets, Hypocalcemia, Sparse bone trabeculae, Hypophosphatemia,... OMIM:264700
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Restrictive cardiomyopathy, Increased circulating ferritin con... OMIM:619313
Ghosal Hematodiaphyseal Dysplasia
Hyperostosis cranialis interna, Leukopenia, Thrombocytopenia, Myelofibrosis, Refractory anemia, I... OMIM:231095
Hypophosphatemic Rickets, X-Linked Recessive
Delayed epiphyseal ossification, Rickets, Osteomalacia, Hypophosphatemic rickets, Sparse bone tra... OMIM:300554
Cyclic Neutropenia
Cellulitis, Lymphopenia, Cyclic neutropenia, Perianal abscess, Tooth abscess, Thrombocytopenia, D... ORPHA:2686
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Thrombocytopenia, Neutropenia OMIM:603585
Axenfeld-Rieger Syndrome, Type 1
Microcornea, Abnormally prominent line of Schwalbe, Ectopia pupillae, Megalocornea, Hypoplasia of... OMIM:180500
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro... ORPHA:35858
Oculopalatocerebral Syndrome
Leukocoria OMIM:257910
Hypophosphatemic Rickets, X-Linked Dominant
Rickets, Osteomalacia, Hepatosplenomegaly, Enamel hypomineralization, Hypophosphatemic rickets, H... OMIM:307800
Aregenerative Anemia
Pancytopenia, Decreased proportion of CD4-positive helper T cells, Abnormal proportion of CD8-pos... ORPHA:101096
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Cystathioninemia, Elevated circulating propionylcarnitine concentration, Pancytopenia, Anemia, Me... OMIM:277380
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Leukopenia, Noncompaction cardiomyopathy, Reticulocytopenia, B lymphocytopenia, Neut... ORPHA:508542
Persistent Hyperplastic Primary Vitreous
Cataract, Microcornea, Persistent pupillary membrane, Leukocoria, Developmental cataract, Corneal... ORPHA:91495
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-positive hemolytic anemia, Neutrope... OMIM:304790
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Secundum atrial septal defect, Lymphopenia, Hepatosplenomegaly, Leukopenia, Inguinal hernia, Sple... OMIM:612541
Colchicine Poisoning
Hypomagnesemia, Leukocytosis, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Myocardi... ORPHA:31824
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Trisomy 9P
Abnormal pupil morphology ORPHA:236
Pgm3-Cdg
Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous abscess, Lymphopenia, Leukop... ORPHA:443811
Dent Disease 2
Elevated circulating creatine kinase concentration, Hypophosphatemia, Umbilical hernia OMIM:300555
Ziegler-Huang Syndrome
Neutropenia, Macrocytic anemia, Persistence of hemoglobin F OMIM:620501
Transcobalamin Ii Deficiency
Pancytopenia, Macrocytic anemia, Erythroid hypoplasia, Anemia, Reticulocytopenia, Hyperhomocystin... OMIM:275350
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Craniosynostosis, Cardiomegaly ORPHA:88643
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosphatemia, Enamel hypopl... OMIM:277440
Peters Anomaly
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... ORPHA:708
Florid Cemento-Osseous Dysplasia
Abnormal cementum morphology, Multiple bony cystic lesions, Abnormal bone structure, Abnormal tra... ORPHA:83451
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i... OMIM:617780
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia, Hypertrophic cardiomyopathy, Leukopenia, Splenomegaly, Anemia, Atrial septal def... OMIM:617303
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating beta-C-terminal telopeptide concentration, Osteomalacia, Hypophosphatemic r... ORPHA:157215
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Rickets of the lower limbs, Sparse bone trabeculae, Gen... OMIM:600785
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Autoimmune thrombocytopenia, D... OMIM:619846
Hemorrhagic Fever-Renal Syndrome
Hyperphosphatemia, Elevated circulating creatinine concentration, Leukocytosis, Thrombocytopenia,... ORPHA:340
Linear Verrucous Nevus Syndrome
Hypophosphatemia, Reduced bone mineral density ORPHA:2611
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, An... ORPHA:540
Shwachman-Diamond Syndrome
Normocytic anemia, Hypoamylasemia, Osteopenia, Aplastic anemia, Leukemia, Increased mean corpuscu... ORPHA:811
Eiken Syndrome
Delayed epiphyseal ossification, Thin bony cortex, Abnormal bone ossification, Abnormal trabecula... ORPHA:79106
Letterer-Siwe Disease
Anemia, Hepatosplenomegaly, Neutropenia, Thrombocytopenia OMIM:246400
Methylmalonic Aciduria, Cbla Type
Pancytopenia, Hyperglycinemia, Hyperammonemia, Anemia, Neutropenia, Thrombocytopenia, Hepatomegal... OMIM:251100
Duane Retraction Syndrome
Microcornea, Chorioretinal coloboma, Central heterochromia, Aniridia, Abnormal pupil morphology, ... ORPHA:233
Intellectual Disability-Alacrima-Achalasia Syndrome
Anisocoria ORPHA:289483
Chediak-Higashi Syndrome
Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Anemia, Abnormal dense gra... OMIM:214500
Autoimmune Lymphoproliferative Syndrome, Type Iia
Splenomegaly, Autoimmune hemolytic anemia, Elevated proportion of CD4-negative, CD8-negative, alp... OMIM:603909
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Anemia, Thrombocytopenia, Neutropenia, Umbilical hernia OMIM:614520
Necrotizing Enterocolitis
Abnormal heart morphology, Leukocytosis, Hyponatremia, Thrombocytopenia, Neutropenia ORPHA:391673
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hyperammonemia, Neutropenia OMIM:618253
Hypomagnesemia 3, Renal
Hyperphosphatemia, Increased circulating beta-C-terminal telopeptide concentration, Rickets, Hypo... OMIM:248250
Distal Deletion 6P
Hypoplasia of the iris, Ectopia pupillae, Posterior embryotoxon, Abnormal anterior chamber morpho... ORPHA:96125
Dyskeratosis Congenita, Autosomal Dominant 3
Osteopenia, Aplastic anemia, Pancytopenia, Leukopenia, Macrocytic anemia, Neutropenia, Thrombocyt... OMIM:613990
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Chondrocalcinosis, Osteomalacia, Multiple lipomas, Hypophosphatemia, Hypercalcemia OMIM:600740
Cohen Syndrome
Leukopenia, Neutropenia, Mitral valve prolapse OMIM:216550
Acute Promyelocytic Leukemia
Pancytopenia, Leukopenia, Leukocytosis, Neutropenia, Thrombocytopenia, Anemia ORPHA:520
Cutis Marmorata Telangiectatica Congenita
Leukocoria OMIM:219250
3-Methylglutaconic Aciduria, Type Viia
Anemia, Neutropenia, Anisopoikilocytosis OMIM:619835
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis OMIM:619281
Autosomal Agammaglobulinemia
Cellulitis, Neutropenia ORPHA:33110
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Ectopia pupillae, Astigmatism, Scarring alopecia of scalp, Enamel hypoplasia OMIM:618727
Shwachman-Diamond Syndrome 1
Myocardial necrosis, Persistence of hemoglobin F, Pancytopenia, Irregular ossification at anterio... OMIM:260400
Systemic Lupus Erythematosus 17
Lymphopenia, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia OMIM:301080
Anterior Segment Dysgenesis 6
Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... OMIM:617315
Diamond-Blackfan Anemia 11
Bicuspid aortic valve, Neutropenia, Anemia of inadequate production OMIM:614900
Autosomal Recessive Hypophosphatemic Rickets
Renal hypophosphatemia, Abnormal trabecular bone morphology, Pseudo-fractures, Osteomalacia, Rick... ORPHA:289176
Fanconi-Bickel Syndrome
Hypouricemia, Rickets, Osteomalacia, Hyperbilirubinemia, Reduced subcutaneous adipose tissue, Inc... OMIM:227810
Charcot-Marie-Tooth Disease Type 1E
Joint contracture of the hand, Abnormal pupil morphology, Anisocoria ORPHA:90658
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Lymphopenia OMIM:152800
Schimke Immunoosseous Dysplasia
Osteopenia, Lymphopenia, Pancytopenia, Abnormal T cell morphology, Thrombocytopenia, Neutropenia,... OMIM:242900
Neonatal Alloimmune Neutropenia
Neutropenia in presence of anti-neutropil antibodies ORPHA:464370
Alagille Syndrome
Keratoconus, Abnormal pupil morphology, Corneal dystrophy ORPHA:52
Fanconi Renotubular Syndrome 1
Hypokalemia, Hypophosphatemia, Rickets, Osteomalacia OMIM:134600
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... OMIM:608203
Fanconi Renotubular Syndrome 2
Osteopenia, Hypophosphatemia, Rickets, Osteomalacia OMIM:613388
Immunodeficiency 114, Folate-Responsive
Increased circulating ferritin concentration, Lymphopenia, Splenomegaly, Megaloblastic anemia, Th... OMIM:620603
Congenital Disorder Of Glycosylation, Type Iic
Cellulitis, Reduction of neutrophil motility, Neutrophilia OMIM:266265
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cataract, Congenital contracture, Peters anomaly, Buphthalmos, Persistent pupillary membrane OMIM:613150
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Hypophosphatemic rickets OMIM:618913
Bone Marrow Failure Syndrome 3
Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, He... OMIM:617052
Methylmalonic Acidemia With Homocystinuria Type Cblf
Elevated circulating palmitoleylcarnitine concentration, Abnormal heart morphology, Megaloblastic... ORPHA:79284
Exercise-Induced Malignant Hyperthermia
Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Thrombocytop... ORPHA:466650
Noonan Syndrome 12
Tetralogy of Fallot, Lymphopenia, Thrombocytopenia, Ventricular septal defect OMIM:618624
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Thin bony cortex ORPHA:75508
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia, Rickets OMIM:612089
Combined Oxidative Phosphorylation Deficiency 55
Hypomagnesemia, Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Hyp... OMIM:619743
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Hypoproteinemia OMIM:207731
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Microcytic anemia, Elevated circulating creatine kinase concentration, Neutropenia, Hepatomegaly,... OMIM:251900
Dent Disease 1
Delayed epiphyseal ossification, Rickets, Osteomalacia, Sparse bone trabeculae, Hypophosphatemia,... OMIM:300009
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Osteopenia, Neutropenia, Atrial septal defect, Joint contracture OMIM:618005
Hyperparathyroidism, Neonatal Severe
Splenomegaly, Anemia, Hypophosphatemia, Calcinosis, Hepatomegaly, Hypercalcemia OMIM:239200
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Iris coloboma, Posterior synechiae of the anterior chamber, Developmental cataract OMIM:616722
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Neutropenia OMIM:616395
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis OMIM:619365
Schimke Immuno-Osseous Dysplasia
Abnormal proportion of naive CD4 T cells, Lymphopenia, Hyperlipidemia, Decreased proportion of na... ORPHA:1830
Immunodeficiency 44
Lymphopenia OMIM:616636
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... OMIM:610256
Poikiloderma With Neutropenia
Leukopenia, Splenomegaly, Neutropenia, Elevated circulating creatine kinase concentration OMIM:604173
Chédiak-Higashi Syndrome
Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ... ORPHA:167
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Splenomegaly, Decreased circulating prealbumin con... ORPHA:37042
Developmental Delay, Hypotonia, And Impaired Language
Neutropenia OMIM:620012
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Hepatomegaly, Hypophosphatemia, Rickets OMIM:616026
Fanconi Anemia, Complementation Group I
Neutropenia, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:609053
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell count, Enlarged platelet dense granules, Hepatosplenomegaly, Decrease... OMIM:608233
Intestinal Botulism
Mydriasis ORPHA:178481
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Splenomegaly, Autoimmune hemolytic anemia, Decreased proportion of class-switched m... OMIM:614700
Toxin-Mediated Infectious Botulism
Mydriasis ORPHA:230800
Immunodeficiency 55
Lymphopenia, Absent natural killer cells, Neutropenia OMIM:617827
Miller Fisher Syndrome
Mydriasis, Anisocoria ORPHA:98919
Fanconi Anemia, Complementation Group E
Abnormal heart morphology, Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia... OMIM:600901
3-Methylglutaconic Aciduria Type 7
Infection associated neutropenia, Neutropenia, Cardiomyopathy ORPHA:445038
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Sclerocornea, Cataract, Microcornea, Ectopia pupillae OMIM:615877
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Mydriasis ORPHA:247815
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Increased proportion of CD4-positive T cells, Lipodystrophy, Neutrophilia, Elevated... OMIM:617099
Fusariosis
Cellulitis, Granuloma, Brain abscess, Fasciitis, Abnormality of the spleen, Lymphopenia, Lung abs... ORPHA:228119
Evans Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutrop... ORPHA:1959
Immunodeficiency 23
Lymphopenia, Abscess, Eosinophilia, Neutropenia, Hemolytic anemia OMIM:615816
Oculo-Palato-Cerebral Syndrome
Cataract, Leukocoria, Joint hypermobility ORPHA:2714
Cystinosis
Hypokalemia, Hypophosphatemia, Rickets ORPHA:213
Glycogen Storage Disease Ib
Hyperlipidemia, Splenomegaly, Hyperuricemia, Neutropenia, Hepatomegaly, Osteoporosis, Enlarged ki... OMIM:232220
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Splenomegaly, Anemia, Osteopetrosis, Hepatomegaly, Hypocalce... OMIM:612301
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Leukocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Abnormal neutrophil c... ORPHA:3226
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Periostitis, Splenomegaly, Abscess, Hepatomegaly, Neutrophilia, Elevated circulating ... OMIM:612852
Acute Generalized Exanthematous Pustulosis
Eosinophilia, Leukocytosis, Neutropenia, Neutrophilia ORPHA:293173
Fanconi Anemia, Complementation Group A
Abnormal heart morphology, Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia... OMIM:227650
Sneddon Syndrome
Lymphopenia, Atrophic scars, Bicuspid aortic valve OMIM:182410
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lymphopenia, T lymphocytopenia, B lymphocytopenia ORPHA:277
Oculodentodigital Dysplasia, Autosomal Recessive
Cataract, Microcornea, Persistent pupillary membrane OMIM:257850
Vici Syndrome
Dilated cardiomyopathy, Cardiomyopathy, Lymphopenia, Leukopenia, Decreased proportion of CD4-posi... OMIM:242840
3-Methylglutaconic Aciduria, Type Viib
Thrombocytopenia, Flexion contracture, Leukopenia, Neutropenia OMIM:616271
Sepsis In Premature Infants
Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, Neutropenia, Thrombocytopenia, Elevated circula... ORPHA:90051
Mccune-Albright Syndrome
Aneurysmal bone cyst, Osteomalacia, Monostotic fibrous dysplasia, Pancytopenia, Fibrous dysplasia... ORPHA:562
Cartilage-Hair Hypoplasia
Lymphopenia, Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Conge... OMIM:250250
Aspergillosis
Eosinophilia, Neutropenia ORPHA:1163
Oculocerebrorenal Syndrome Of Lowe
Lentiglobus, Cataract, Atypical scarring of skin, Osteomalacia, Abnormal dental enamel morphology... ORPHA:534
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Knee flexion contracture, Hip contracture, Hypophosphatemia, Hypercalcemia OMIM:156400
Immunodeficiency 49
Abnormally low T cell receptor excision circle level, Umbilical hernia, Lymphopenia, Eosinophilia... OMIM:617237
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel... OMIM:616005
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Lymphopenia, Hemolytic anemia, Thrombocytopenia OMIM:616744
Relapsing Fever
Increased total bilirubin, Elevated circulating creatinine concentration, Leukopenia, Leukocytosi... ORPHA:91547
Fibrous Dysplasia Of Bone
Rickets, Osteomalacia, Cortical irregularity, Fibrous dysplasia of the bones, Hypophosphatemia, T... ORPHA:249
Rothmund-Thomson Syndrome
Abnormal trabecular bone morphology, Osteopenia, Aplastic anemia, Abnormal dental enamel morpholo... ORPHA:2909
Nephronophthisis 11
Anisocoria OMIM:613550
Fanconi-Bickel Syndrome
Osteopenia, Rickets, Hypophosphatemia, Hypertriglyceridemia, Hepatomegaly ORPHA:2088
Iatrogenic Botulism
Mydriasis ORPHA:254509
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Hypoproteinemia ORPHA:1116
Fanconi Anemia, Complementation Group C
Pancytopenia, Ventricular septal defect, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia... OMIM:227645
Megalocornea-Intellectual Disability Syndrome
Osteopenia, Hypoplasia of the iris, Megalocornea, Astigmatism, Joint hypermobility, Iridodonesis,... ORPHA:2479
Hermansky-Pudlak Syndrome 10
Hepatomegaly, Splenomegaly, Neutropenia OMIM:617050
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Splenomegaly, Anemia, Lipodystrophy, Thrombocytopenia, Hypertriglyceridemia, Hepatom... OMIM:617591
Wound Botulism
Mydriasis ORPHA:178475
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Hypertrophic cardiomyopathy, Hyperalaninemia, Hyperammonemia, Neutropenia OMIM:615471
Immunodeficiency With Hyper-Igm, Type 1
Splenomegaly, Thrombocytopenia, Neutropenia, Hepatomegaly, Hemolytic anemia OMIM:308230
Trichothiodystrophy
Osteopenia, Increased mean corpuscular hemoglobin concentration, Cardiomyopathy, Umbilical hernia... ORPHA:33364
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Reduced natural killer cell count, Lymphopenia, Decreased... OMIM:619510
Aortic Aneurysm, Familial Thoracic 6
Iris flocculi OMIM:611788
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Pure red cell aplasia, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Neut... OMIM:613179
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia OMIM:308990
Congenital Fibrosis Of Extraocular Muscles
Cataract, Anisocoria, Abnormal pupil shape ORPHA:45358
Inhalational Botulism
Mydriasis ORPHA:254504
X-Linked Hypophosphatemia
Cellulitis, Rickets, Hypophosphatemia, Tooth abscess, Generalized osteosclerosis, Enthesitis, Cra... ORPHA:89936
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphopenia, Sclerosis of skull base, T lymphocytopenia, Neutropenia, Autoimmune thrombocytopenia OMIM:607944
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Lens subluxation, Joint stiffness, Corneal opacity, Ectopia pupillae OMIM:608940
Whim Syndrome
Cellulitis, Tetralogy of Fallot, Lymphopenia, Abnormal neutrophil morphology, Neutropenia ORPHA:51636
Pearson Syndrome
Cardiomyopathy, Hypomagnesemia, Abnormal heart morphology, Pancytopenia, Hypocalcemia, Splenomega... ORPHA:699
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... ORPHA:98849
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T ce... ORPHA:331206
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypermagnesemia, Chondrocalcinosis, Osteomalacia, Lipoma, Hypocalcemic se... ORPHA:405
Cutis Marmorata Telangiectatica Congenita
Leukocoria, Reduced bone mineral density ORPHA:1556
Oncogenic Osteomalacia
Hypophosphatemia, Fibrous dysplasia of the bones, Hypocalcemia ORPHA:352540
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Hyperbilirubinemia, Refractory sideroblastic anemia, Reticulo... OMIM:557000
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hepatomegaly, Increased circulating free fatty acid level, Hypophosphatemia OMIM:605911
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Achalasia-Addisonianism-Alacrima Syndrome
Anisocoria OMIM:231550
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Hyperostosis, Chr... ORPHA:906
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Lens subluxation, Corneal opacity, Ectopia pupillae ORPHA:85167
Cartilage-Hair Hypoplasia
Cardiomyopathy, Hypocalcemia, Anemia, Neutropenia, Abnormal cardiac septum morphology, Hepatomega... ORPHA:175
Immunodeficiency 91 And Hyperinflammation
Hemophagocytosis, Hepatosplenomegaly, Hepatomegaly, Monocytosis, Thrombocytopenia, Neutrophilia, ... OMIM:619644
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypomagnesemia, Lymphopenia, Hypocalcemia, Reduced proportion of CD4+ effector m... ORPHA:90362
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Aplasia of... OMIM:242700
Pierson Syndrome
Cataract, Hypoplasia of the iris, Rieger anomaly, Uveal ectropion, Hypoplasia of the ciliary body... OMIM:609049
Kasabach-Merritt Phenomenon
Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Neutropenia, Thrombocytopenia, An... ORPHA:2330
Rothmund-Thomson Syndrome Type 1
Abnormal trabecular bone morphology, Osteopenia, Aplastic anemia, Abnormal dental enamel morpholo... ORPHA:221008
Knobloch Syndrome 1
Band keratopathy, Chorioretinal atrophy, Joint hypermobility, Iris transillumination defect, Cort... OMIM:267750
Neuhauser Syndrome
Osteopenia, Hypoplasia of the iris, Megalocornea, Iridodonesis, Iris transillumination defect, Co... OMIM:249310
Osteopetrosis, Autosomal Recessive 5
Mydriasis, Cranial hyperostosis, Osteopetrosis, Decreased osteoclast count, Increased bone minera... OMIM:259720
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Anemia, Elevated circulating creatine kinase concentration OMIM:618838
Shwachman-Diamond Syndrome 2
Hepatomegaly, Thrombocytopenia, Normocytic anemia, Neutropenia OMIM:617941
Herpes Simplex Virus Encephalitis
Elevated circulating C-reactive protein concentration, Hyponatremia, Leukocytosis, Neutrophilia ORPHA:1930
Botulism
Mydriasis ORPHA:1267
Agammaglobulinemia 1, Autosomal Recessive
Rectal abscess, Neutropenia, B lymphocytopenia OMIM:601495
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Hepatosplenomegaly, Autoimmune hemolytic anemia, Eosinophilia, Neutropenia in presence of anti-ne... OMIM:615952
Khan-Khan-Katsanis Syndrome
Lymphopenia, Corneal scarring, Patent foramen ovale, Neutropenia, Joint contracture, Anemia OMIM:618460
Autosomal Recessive Malignant Osteopetrosis
Abnormal pulmonary valve morphology, Splenomegaly, Hypocalcemia, Anemia, Hypophosphatemia, Osteop... ORPHA:667
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Anemia, Lymphopenia, Osteopenia, Thrombocytopenia OMIM:620365
Mhc Class Ii Deficiency 1
Neutropenia OMIM:209920
Oculoauricular Syndrome
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Iris ... OMIM:612109
Trichinellosis
Conjunctival hyperemia, Conjunctivitis, Abnormal uvea morphology, Anisocoria ORPHA:863
Attrv122I Amyloidosis
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef... ORPHA:85451
Rothmund-Thomson Syndrome Type 2
Abnormal trabecular bone morphology, Osteopenia, Aplastic anemia, Abnormal dental enamel morpholo... ORPHA:221016
Foodborne Botulism
Mydriasis ORPHA:228371
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Lymphopenia, Autoimmune hemolytic anemia, Abnormal T cell morphology, Decreased pro... ORPHA:760
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia OMIM:619767
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Cystathioninemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Neutropenia, Thro... OMIM:277400
Leigh Syndrome
Hypertrophic cardiomyopathy, Multiple joint contractures, Ventricular septal defect, Hyperalanine... ORPHA:506
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Elevated circulating palmitoleylcarnitine concentration, Abnormal heart m... ORPHA:79282
Retinitis Pigmentosa 97
Iris atrophy OMIM:620422
Agammaglobulinemia, X-Linked
Cor pulmonale, Neutropenia, B lymphocytopenia, Anemia, T lymphocytopenia OMIM:300755
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Lymphope... ORPHA:276
Late-Onset Retinal Degeneration
Choroidal neovascularization, Abnormal anterior eye segment morphology, Chorioretinal atrophy, Ab... ORPHA:67042
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Contracture of the proximal interphalangeal joint of the 3rd finger, Contracture of the proximal ... OMIM:618223
Retinoblastoma
Cellulitis, Hypopyon, Heterochromia iridis, Leukocoria, Uveitis ORPHA:790
Infant Botulism
Mydriasis, Keratoconjunctivitis sicca ORPHA:178478
X-Linked Intellectual Disability, Nascimento Type
Neonatal hyperbilirubinemia, Tetralogy of Fallot, Mitral stenosis, Patent foramen ovale, Ventricu... ORPHA:163956
Dent Disease
Renal hypophosphatemia, Delayed epiphyseal ossification, Rickets, Osteomalacia, Sparse bone trabe... ORPHA:1652
1Q41Q42 Microdeletion Syndrome
Abnormality iris morphology, Congenital diaphragmatic hernia ORPHA:250999
Saul-Wilson Syndrome
Neutropenia OMIM:618150
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Anemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Liver... ORPHA:54251
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Eosinophilia ORPHA:169160
Scalp-Ear-Nipple Syndrome
Cataract, Multiple lipomas, Developmental cataract, Anisocoria, Iris coloboma OMIM:181270
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Anisocoria OMIM:615510
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Cohen Syndrome
Neutropenia, Mitral valve prolapse, Ventricular septal defect ORPHA:193
Congenital Muscular Dystrophy With Cerebellar Involvement
Cataract, Abnormality iris morphology, Megalocornea ORPHA:370959
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Lymphopenia, Splenomegaly, Aplasia of the t... OMIM:602450
Revesz Syndrome
Leukocoria, Megalocornea OMIM:268130
Cryptogenic Organizing Pneumonia
Elevated circulating C-reactive protein concentration, Leukocytosis, Neutrophilia ORPHA:1302
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Hyperlipidemia, Hyperuricemia, Anemia, Hypercholesterolemia, Osteoporosis, Hypertrigl... ORPHA:79259
Legionnaires Disease
Cellulitis, Lymphopenia, Splenomegaly, Hyponatremia, Myocarditis, Endocarditis, Pericarditis ORPHA:549
Fanconi Anemia, Complementation Group D2
Abnormal heart morphology, Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia... OMIM:227646
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Granuloma, Lymphopenia, Hepatosplenomegaly, Impaired oxidative burst, Splenomegaly, Abscess, Peri... OMIM:618935
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:436159
Psoriasis 14, Pustular
Elevated circulating C-reactive protein concentration, Leukocytosis, Neutrophilia OMIM:614204
Juvenile Glaucoma
Abnormality iris morphology, Abnormal anterior chamber morphology ORPHA:98977
Icf Syndrome
Anemia, Lymphopenia, Abnormality of neutrophils, Umbilical hernia ORPHA:2268
Mirage Syndrome
Radial club hand, Lymphopenia, Leukopenia, Hyponatremia, Thrombocytopenia, Anemia, Hyperkalemia, ... OMIM:617053
Kikuchi-Fujimoto Disease
Leukopenia, Splenomegaly, Hepatomegaly, Anemia, Lymphocytosis, Neutropenia, Myocarditis, Elevated... ORPHA:50918
Traboulsi Syndrome
Cataract, Ectopia lentis, Phakodonesis, Iris atrophy, Joint hypermobility, Spherophakia, Anterior... OMIM:601552
Norrie Disease
Cataract, Ectopia lentis, Hypoplasia of the iris, Abnormal pupil morphology, Aplasia/Hypoplasia o... ORPHA:649
Raine Syndrome
Hypophosphatemia, Enamel hypoplasia, Subperiosteal bone formation, Increased bone mineral density... OMIM:259775
Collagenoma, Familial Cutaneous
Collagenoma, Iris atrophy OMIM:115250
Diamond-Blackfan Anemia 1
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:105650
Adult-Onset Still Disease
Neutrophilia, Abnormal circulating lipid concentration, Increased circulating ferritin concentrat... ORPHA:829
Toxic Epidermal Necrolysis
Anemia, Thrombocytopenia, Abnormal myocardium morphology, Neutropenia ORPHA:537
Pediatric-Onset Graves Disease
Splenomegaly, Thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Hepatomegal... ORPHA:525731
Autoimmune Lymphoproliferative Syndrome
Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Splenomegaly, Au... ORPHA:3261
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia, Ventricular septal defect, Hypoplasia of ... OMIM:243150
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Anisocoria, Inguinal hernia OMIM:618653
Hereditary Fructose Intolerance
Hepatomegaly, Hypermagnesemia, Hypophosphatemia, Hyperuricemia ORPHA:469
Zygomycosis
Cellulitis, Brain abscess, Fasciitis, Osteolysis, Splenic abscess, Neutropenia, Myocarditis, Endo... ORPHA:73263
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Hepatomegaly, Autoimmune thrombocytopenia OMIM:616100
Generalized Pustular Psoriasis
Hypoalbuminemia, Lymphopenia, Leukocytosis, Hypocalcemia, Hyponatremia, Elevated circulating C-re... ORPHA:247353
Staphylococcal Necrotizing Pneumonia
Elevated circulating C-reactive protein concentration, Leukopenia, Leukocytosis, Neutrophilia ORPHA:36238
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Rickets, Hypomagnesemia, Hypophosphatemic rickets,... OMIM:219800
Sickle Cell Disease
Splenic infarction, Increased red cell sickling tendency, Leukocytosis, Splenomegaly, Target cell... OMIM:603903
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Abnormal right ventricle morphology, Transient neutropenia, Inguinal hernia, Mitral valve prolaps... ORPHA:500095
Sweet Syndrome
Dilated cardiomyopathy, Leukocytosis, Chronic lymphatic leukemia, Anemia, Acute myeloid leukemia,... ORPHA:3243
Infantile Nephropathic Cystinosis
Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia, Rickets ORPHA:411629
Hermansky-Pudlak Syndrome