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Gene: Sfrp1 MGI:892014

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	Allele	Zyg	Life Stage	P Value
abnormal iris morphology	Sfrp1^tm1Aksh	HOM	Early adult	4.01×10^-05
abnormal pupil morphology	Sfrp1^tm1Aksh	HOM	Early adult	1.45×10^-05
decreased bone mineral density	Sfrp1^tm1Aksh	HOM	Early adult	3.75×10^-06
increased total body fat amount	Sfrp1^tm1Aksh	HOM	Early adult	1.45×10^-05
increased bone mineral content	Sfrp1^tm1Aksh	HOM	Early adult	6.00×10^-06

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.

Human diseases associated with Sfrp1 (0 diseases)
Human diseases predicted to be associated with Sfrp1 (541 diseases)

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	Matching phenotypes	Source
Pupillary Membrane, Persistence Of	Developmental cataract, Megalocornea, Persistent pupillary membrane	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	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi...	OMIM:617319
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia	OMIM:618310
Anterior Segment Dysgenesis 3	Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post...	OMIM:601631
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane	OMIM:620253
Whim Syndrome 2	Tetralogy of Fallot, Chronic neutropenia	OMIM:619407
Microphthalmia, Isolated, With Coloboma 10	Microcoria, Iris coloboma, Chorioretinal coloboma	OMIM:616428
Immunodeficiency 50	Lymphopenia, Neutropenia	OMIM:300988
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Lymphopenia	OMIM:615615
Cyclic Neutropenia	Cyclic neutropenia	OMIM:162800
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m...	OMIM:225200
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Inguinal hernia, Corneal dystrophy, Ectopia pupillae, Corneal guttata	OMIM:609141
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Corneal Dystrophy, Posterior Amorphous	Ectopia pupillae, Iris coloboma, Corneal dystrophy	OMIM:612868
Trimethylaminuria	Splenomegaly, Anemia, Neutropenia	OMIM:602079
Iridocorneal Endothelial Syndrome	Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ...	ORPHA:64734
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia	ORPHA:70592
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Neutropenia	ORPHA:90023
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Neutropenia	OMIM:616022
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Neutropenia, Chronic Familial	Neutropenia	OMIM:162700
Hemochromatosis, Type 3	Increased circulating ferritin concentration, Elevated transferrin saturation, Cardiomyopathy, In...	OMIM:604250
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Myopathy, Tubular Aggregate, 1	Joint contracture, Abnormal pupil morphology, Flexion contracture	OMIM:160565
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, A...	OMIM:603552
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia, Hypocalcemia, Abnormal heart morphology	DECIPHER:16
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Splenomegaly, Monocyto...	OMIM:614470
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae	OMIM:618031
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Myelolymphatic Insufficiency	Leukopenia, Hyposegmentation of neutrophil nuclei	OMIM:310350
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ...	ORPHA:75564
Immunodeficiency 24	Lymphopenia, Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Reduced proportion ...	OMIM:615897
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Calciphylaxis	Ectopic ossification, Hyperphosphatemia, Cellulitis	ORPHA:280062
Microcoria, Congenital	Microcoria, Hypoplasia of the iris dilator muscle	OMIM:156600
Fanconi Anemia, Complementation Group G	Thrombocytopenia, Leukemia, Anemia, Neutropenia	OMIM:614082
Hypophosphatemic Rickets, Autosomal Recessive, 1	Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric...	OMIM:241520
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Neutropenia	OMIM:615214
Spinocerebellar Ataxia, Autosomal Recessive 23	Hyponatremia, Neutropenia	OMIM:616949
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Neutropenia	OMIM:610798
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, T...	ORPHA:494444
Megalocornea	Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d...	OMIM:309300
Charcot-Marie-Tooth Disease Type 1B	Abnormal pupil morphology	ORPHA:101082
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia	OMIM:617585
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Iris cyst	OMIM:620086
Transcobalamin Deficiency	Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Facial Spasm	Anisocoria	OMIM:134300
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Pseudopseudohypoparathyroidism	Ectopic ossification, Hyperphosphatemia, Hypocalcemia	ORPHA:79445
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Agammaglobulinemia 3, Autosomal Recessive	Neutropenia, Absent circulating B cells, Abnormal T cell morphology	OMIM:613501
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Hypercalcemia, Hyperphosphatemia, Calvarial osteosclerosis, Metacarpal periosteal thi...	OMIM:617994
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia	OMIM:603233
Malignant Hyperthermia, Susceptibility To, 3	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Isolated Ectopia Lentis	Ectopia pupillae, Cataract, Joint stiffness, Ectopia lentis	ORPHA:1885
Hypoparathyroidism, Familial Isolated, 1	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Microphthalmia, Isolated, With Corectopia	Ectopia pupillae	OMIM:156900
Glutathione Synthetase Deficiency	Hemolytic anemia, Neutropenia	OMIM:266130
Autoimmune Hypoparathyroidism	Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemi...	ORPHA:36913
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm...	ORPHA:98973
Folate Malabsorption, Hereditary	Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:229050
Bone Marrow Failure Syndrome 6	Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphope...	OMIM:618849
Ataxia-Pancytopenia Syndrome	Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto...	OMIM:159550
Short Syndrome	Posterior embryotoxon, Inguinal hernia, Corneal opacity, Abnormal dental enamel morphology, Lipod...	ORPHA:3163
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote...	ORPHA:158057
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent throm...	OMIM:150550
Woolly Hair	Abnormal pupil morphology, Cataract	ORPHA:170
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia	OMIM:619302
Diamond-Blackfan Anemia 4	Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Atrial septal defect	OMIM:612527
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Pseudohypoparathyroidism, Type Ic	Osteoporosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Enamel hypoplasia	OMIM:612462
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Hyperostosis, Subperiosteal bone formation, Hyperphosphatemia, Enamel hypoplasia	OMIM:211900
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, Impaired neutrophil chemotaxis, Cellulitis, Neutropenia, Hepatosplenomegaly, Leukop...	OMIM:618986
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Pseudohypoparathyroidism Type 2	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94090
X-Linked Recessive Ocular Albinism	Abnormal pupil morphology, Astigmatism, Ocular albinism, Iris hypopigmentation	ORPHA:54
Malignant Hyperthermia, Susceptibility To, 1	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:145600
Pseudohypoparathyroidism, Type Ia	Osteoporosis, Subcutaneous ossification, Hyperphosphatemia, Hypocalcemic tetany, Enamel hypoplasia	OMIM:103580
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Neutropenia	OMIM:610738
Reticular Dysgenesis	Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus	OMIM:267500
Microphthalmia, Isolated, With Coloboma 7	Iris coloboma, Inferior chorioretinal coloboma	OMIM:614497
Woolly Hair Nevus	Heterochromia iridis, Persistent pupillary membrane	ORPHA:79414
Klippel-Feil Syndrome 3, Autosomal Dominant	Cervical C3/C4 vertebral fusion, Iris coloboma, Chorioretinal coloboma, Cervical C5/C6 vertebrae ...	OMIM:613702
Blue Diaper Syndrome	Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia	ORPHA:2688
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Thic...	OMIM:127000
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio...	OMIM:308240
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Osteopenia, Aplastic anemia, Eosinophilia, Cellulitis, Acute lymphoblasti...	ORPHA:486
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Ophthalmoplegia, Familial Static	Anisocoria	OMIM:165000
Immunodeficiency 46	Neutropenia, Anemia, Intermittent thrombocytopenia	OMIM:616740
Microphthalmia, Isolated, With Coloboma 3	Cataract, Iris coloboma	OMIM:610092
Proteus-Like Syndrome	Cataract, Abnormal pupil morphology, Hyperostosis, Limbal dermoid, Heterochromia iridis, Subcutan...	ORPHA:2969
Agammaglobulinemia 4, Autosomal Recessive	Neutropenia, Abnormal T cell morphology	OMIM:613502
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp...	ORPHA:169154
Pseudohypoparathyroidism Type 1B	Calcinosis, Increased bone mineral density, Diaphyseal sclerosis, Hyperphosphatemia, Hypocalcemia...	ORPHA:94089
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Splenomegaly, Hyperammonemia, Anemia, Cardiomyopathy, Neutropenia, Thrombocytopenia	ORPHA:79312
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Increased bone mineral density, Macular scar, Hydroxyprolinemia, Osteoporosis, Hyperp...	OMIM:239000
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased proportion of class-switched memory B cells, Right ventricular dilatation, B lymphocyto...	OMIM:619705
Fanconi Anemia, Complementation Group V	Anemia, Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Neutropenia	OMIM:617243
Immunodeficiency 98 With Autoinflammation, X-Linked	Myelofibrosis, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemoph...	OMIM:301078
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,...	ORPHA:398063
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Absent circulating B cells	OMIM:619707
Slc35A1-Cdg	Giant platelets, Neutropenia, Cellulitis, Abnormal platelet granules, Thrombocytopenia	ORPHA:238459
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Hyperammonemia, Anemia, Neutropenia, Thrombocytopenia	ORPHA:289916
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hypocalcemic seizures, Hypocalcemia, Patchy osteosclerosis, Hyperphosphatemia	OMIM:241410
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Hypocalcemia, Hypophosphatemia	OMIM:619073
Specific Granule Deficiency 2	Osteopenia, Absent neutrophil specific granules, Anemia, Neutropenia, Thrombocytopenia, Amelogene...	OMIM:617475
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Hyperlipidemia, Hemophagocytosis, Neutropenia	ORPHA:79477
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t...	ORPHA:263479
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Leukocoria, Uveitis, Microcornea, Buphthalmos, Shallow anterior chambe...	OMIM:221900
Whim Syndrome 1	Neutropenia	OMIM:193670
Autosomal Dominant Hypophosphatemic Rickets	Osteomalacia, Rickets, Iron deficiency anemia, Hypocalcemia, Hypophosphatemia, Tooth abscess	ORPHA:89937
Bilateral Acute Depigmentation Of The Iris	Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig...	ORPHA:69736
Deafness, Autosomal Recessive 108	Iris coloboma	OMIM:617654
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp...	ORPHA:94093
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l...	OMIM:619924
Coats Disease	Leukocoria	OMIM:300216
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Aggressive Systemic Mastocytosis	Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, Osteolysis, Hepatosple...	ORPHA:98850
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Abnormal pupil morphology	ORPHA:2151
Immunodeficiency 8 With Lymphoproliferation	Lymphopenia	OMIM:615401
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis	OMIM:247800
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Elevated circulating creatinine concentration, Hyperuricemia, Anemia, Neutropenia	OMIM:617056
Immunodeficiency With Hyper-Igm, Type 3	Neutropenia	OMIM:606843
Immunodeficiency 102	Hepatomegaly, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, ...	OMIM:301082
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphop...	ORPHA:444463
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome	Iris hypopigmentation	ORPHA:85332
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:598500
Alexander Disease	Microcoria	OMIM:203450
Hypophosphatemic Bone Disease	Rickets, Osteomalacia, Hypophosphatemia	OMIM:146350
Pelger-Huet Anomaly	Ventricular septal defect, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Gia...	OMIM:169400
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Rickets, Osteomalacia, Hypophosphatemia	OMIM:193100
Hypocalcemic Vitamin D-Resistant Rickets	Osteomalacia, Bone cyst, Osteolysis, Abnormal adipose tissue morphology, Hypocalcemia, Hypophosph...	ORPHA:93160
Macrophage Activation Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Spleno...	ORPHA:158061
Sanjad-Sakati Syndrome	Hypocalcemia, Hyperphosphatemia, Abnormal dental enamel morphology, Patchy osteosclerosis	ORPHA:2323
Hec Syndrome	Abnormal pupil morphology, Developmental cataract	ORPHA:2119
2Q24 Microdeletion Syndrome	Camptodactyly of finger, Cataract, Abnormality iris morphology	ORPHA:1617
Microcephalic Primordial Dwarfism, Toriello Type	Enamel hypoplasia, Neutropenia	ORPHA:2643
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Hypomethioninemia, Inguinal hernia, Hyperhomocystinemia, Normochromic ane...	OMIM:614857
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hepatomegaly, Hyperammonemia, Leukopenia, Cardiomyopathy, Hyperglycinemia...	OMIM:251000
Propionic Acidemia	Hepatomegaly, Pancytopenia, Osteoporosis, Hyperammonemia, Anemia, Cardiomyopathy, Hyperglycinemia...	OMIM:606054
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Anisocoria	OMIM:300858
Genetic Recurrent Myoglobinuria	Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia	ORPHA:99845
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Neutropenia	OMIM:615387
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T...	OMIM:619802
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil ...	OMIM:619220
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia	OMIM:616738
Immunodeficiency 76	Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia	OMIM:619164
Norrie Disease	Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham...	OMIM:310600
Weill-Marchesani Syndrome 4	Iridodonesis, Ectopia lentis, Joint stiffness, Shallow anterior chamber, Posterior synechiae of t...	OMIM:613195
Cataract 21, Multiple Types	Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I...	OMIM:610202
Autosomal Dominant Kenny-Caffey Syndrome	Cortical thickening of long bone diaphyses, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemi...	ORPHA:93325
Uveal Melanoma	Iris melanoma, Inferior lens subluxation, Zonular cataract, Ciliary body melanoma, Mydriasis	ORPHA:39044
Unilateral Ocular Duplication	Microcornea, Abnormal pupil morphology, Iris coloboma	ORPHA:3374
Congenital Enterovirus Infection	Abnormal macrophage morphology, Pericardial effusion, Myocarditis, Leukocytosis, Hyperammonemia, ...	ORPHA:292
Phacoanaphylactic Uveitis	Hypopyon, Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium mo...	ORPHA:209959
Felty Syndrome	Hepatomegaly, Pericarditis, Splenomegaly, Cellulitis, Osteolysis, Anemia, Neutropenia, Abnormal l...	ORPHA:47612
Familial Isolated Hyperparathyroidism	Osteopenia, Hypercalcemia, Hypophosphatemia, Generalized osteoporosis, Chondrocalcinosis	ORPHA:99879
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Neutropenia	OMIM:618752
Developmental And Epileptic Encephalopathy 66	Ventricular septal defect, Dextrocardia, Neutropenia, Atrial septal defect, Anemia	OMIM:618067
Pseudohypoparathyroidism Type 1C	Calcinosis, Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany,...	ORPHA:79444
Amoebic Keratitis	Iris atrophy, Anterior uveitis, Cataract, Abnormal corneal epithelium morphology, Abnormal anteri...	ORPHA:67043
Axenfeld-Rieger Syndrome, Type 3	Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter...	OMIM:602482
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Secundum atrial septal defect, Neutropenia, Lymphopenia, Patent fora...	OMIM:614868
Aniridia 1	Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,...	OMIM:106210
Neonatal Lupus Erythematosus	Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Splenomegaly, Dilated cardiomyopat...	ORPHA:398124
Familial Dysautonomia	Corneal opacity, Recurrent fractures, Abnormal pupil morphology, Corneal erosion, Osteolysis, Het...	ORPHA:1764
Pseudohypoparathyroidism Type 1A	Calcinosis, Increased bone mineral density, Reduced bone mineral density, Hyperostosis frontalis ...	ORPHA:79443
Immunodeficiency By Defective Expression Of Mhc Class Ii	Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal CD4:CD8 ratio, N...	ORPHA:572
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Osteopenia, Osteoporosis, Hypophosphatemia	OMIM:612287
Aniridia 2	Aniridia, Iris coloboma, Cataract, Lens subluxation	OMIM:617141
Melorheostosis, Isolated	Hyperostosis, Increased bone mineral density	OMIM:155950
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegal...	OMIM:601859
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcemia, Hypophosphatemia,...	OMIM:600081
Autosomal Dominant Hypocalcemia	Hypomagnesemia, Hyperphosphatemia, Hypocalcemia, Reduced bone mineral density	ORPHA:428
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy...	OMIM:300835
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin co...	ORPHA:158048
Chromosome 16Q12 Duplication Syndrome	Anisocoria, Cataract	OMIM:619649
Immunodeficiency 95	Lymphopenia	OMIM:619773
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Dilated cardiomyopathy, Osteoporosis, Leukopenia, Neutropenia, Thr...	OMIM:613989
Acrodysostosis 1 With Or Without Hormone Resistance	Calvarial hyperostosis, Epiphyseal stippling, Neonatal epiphyseal stippling, Hyperphosphatemia	OMIM:101800
Wolcott-Rallison Syndrome	Hyponatremia, Hepatomegaly, Hyperammonemia, Iron deficiency anemia, Hypoalbuminemia, Lymphocytosi...	ORPHA:1667
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Hyperammonemia, Anemia, Hyperglycinemia, Neut...	OMIM:251110
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Neutropenia, Anemia, Hypocalcemia, Cellulitis, Thrombocyto...	ORPHA:47
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Ventricular septal defect, Splenomegaly, Reduced bone mineral density, Leukopenia, ...	OMIM:620210
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea	OMIM:251750
Malignant Hyperthermia Of Anesthesia	Hyperkalemia, Elevated creatine kinase after exercise, Hyperphosphatemia, Cardiomyocyte mitochond...	ORPHA:423
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia	ORPHA:2582
Autoinflammatory Disease, Systemic, X-Linked	Neutropenia, Panniculitis, B lymphocytopenia, Hepatosplenomegaly	OMIM:301081
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Cutaneous abscess, Lymphopenia, Reduced natural killer cell count, Neutropenia	OMIM:619752
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Osteopenia, Osteoporosis, Hypophosphatemia	OMIM:612286
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Hypoalb...	OMIM:226990
Methylcobalamin Deficiency Type Cble	Hypomethioninemia, Macrocytic anemia, Pancytopenia, Osteoporosis, Hyperhomocystinemia, Increased ...	ORPHA:2169
Immunodeficiency 13	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Abnormal circulating calcium concentration, Delayed epiphyseal ossification, Rickets, Sparse bone...	OMIM:241530
Diamond-Blackfan Anemia 7	Osteopenia, Macrocytic anemia, Ventricular septal defect, Secundum atrial septal defect, Osteopor...	OMIM:612562
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Cyclic Neutropenia	Cyclic neutropenia, Perianal abscess, Cellulitis, Decreased eosinophil count, Lymphopenia, Tooth ...	ORPHA:2686
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcemic seizures, Hypocalc...	OMIM:264700
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Myelofibrosis, Increased bone mineral density, Leukopenia, Hyperostosis crania...	OMIM:231095
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Thrombocytopenia	ORPHA:88
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Dextrocardia, Megaloblastic anemia, Hyperhomo...	OMIM:277380
Hypophosphatemic Rickets, X-Linked Recessive	Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosphatemia,...	OMIM:300554
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p...	ORPHA:101096
Barth Syndrome	Cyclic neutropenia, Dilated cardiomyopathy, Neutropenia, Hypochromic microcytic anemia, Granulocy...	OMIM:302060
Immunodeficiency, Common Variable, 1	Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo...	OMIM:607594
Congenital Disorder Of Glycosylation, Type Iif	Macrothrombocytopenia, Thrombocytopenia, Neutropenia	OMIM:603585
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
Axenfeld-Rieger Syndrome, Type 1	Rieger anomaly, Polycoria, Microcornea, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Megal...	OMIM:180500
Necrotizing Enterocolitis	Hyponatremia, Leukocytosis, Abnormal heart morphology, Neutropenia, Thrombocytopenia	ORPHA:391673
Oculopalatocerebral Syndrome	Leukocoria	OMIM:257910
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Pericardial eff...	OMIM:619313
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Inguinal hernia, Cor triatriatum, Intermittent thrombocytopenia, Perianal abscess, ...	OMIM:612541
Colchicine Poisoning	Hyponatremia, Myocarditis, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypo...	ORPHA:31824
Immunodeficiency 67	Liver abscess, Transient neutropenia	OMIM:607676
Duane Retraction Syndrome	Central heterochromia, Abnormal pupil morphology, Microcornea, Hypoplastic iris stroma, Chorioret...	ORPHA:233
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Noncompaction cardiomyopathy, Thrombocytopenia, Reticulocytopenia, Leukopenia, Panniculitis, B ly...	ORPHA:508542
Hypercalcemia, Infantile, 2	Hypercalcemia, Hypophosphatemia	OMIM:616963
Trisomy 9P	Abnormal pupil morphology	ORPHA:236
Dent Disease 2	Umbilical hernia, Elevated circulating creatine kinase concentration, Hypophosphatemia	OMIM:300555
Persistent Hyperplastic Primary Vitreous	Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ...	ORPHA:91495
Pgm3-Cdg	Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat...	ORPHA:443811
Hypocalcemic Vitamin D-Dependent Rickets	Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcemic seiz...	ORPHA:289157
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Craniosynostosis, Cardiomegaly	ORPHA:88643
Familial Hemophagocytic Lymphohistiocytosis	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, A...	ORPHA:540
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Splenomegaly, Flexion contracture, Enlarged kidney, Anemia, Leukopenia, Hypoalbumin...	OMIM:617303
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abnormal cementum morphology, ...	ORPHA:83451
Vitamin D-Dependent Rickets, Type 2A	Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcemic seizures, Hypophos...	OMIM:277440
Shwachman-Diamond Syndrome	Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane...	ORPHA:811
Hemorrhagic Fever-Renal Syndrome	Leukocytosis, Elevated circulating creatinine concentration, Hyperkalemia, Anemia, Hyperphosphate...	ORPHA:340
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Osteomalacia, Increased circulating beta-C-terminal telopeptide concentration, Reduced bone miner...	ORPHA:157215
Letterer-Siwe Disease	Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly	OMIM:246400
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Hyperhomo...	OMIM:617780
Linear Verrucous Nevus Syndrome	Hypophosphatemia, Reduced bone mineral density	ORPHA:2611
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased proportion of CD4+C...	OMIM:619846
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati...	OMIM:600785
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Thrombocytopenia, Splenomegaly, Neutrope...	OMIM:214500
Eiken Syndrome	Abnormal trabecular bone morphology, Delayed epiphyseal ossification, Thin bony cortex, Abnormal ...	ORPHA:79106
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Hyperammonemia, Anemia, Hyperglycinemia, Neut...	OMIM:251100
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Thrombocytopenia, Umbilical hernia, Anemia, Neutropenia	OMIM:614520
Mitochondrial Complex I Deficiency, Nuclear Type 33	Hyperammonemia, Neutropenia	OMIM:618253
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic anemia, Neutropenia,...	OMIM:304790
Cohen Syndrome	Leukopenia, Mitral valve prolapse, Neutropenia	OMIM:216550
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypercalcemia, Osteomalacia, Hypermagnesemia, Multiple lipomas, Hypophosphatemia, Chondrocalcinosis	OMIM:600740
Transcobalamin Ii Deficiency	Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia	OMIM:275350
Diamond-Blackfan Anemia 11	Bicuspid aortic valve, Anemia of inadequate production, Neutropenia	OMIM:614900
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Distal Deletion 6P	Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio...	ORPHA:96125
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegal...	OMIM:603909
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
3-Methylglutaconic Aciduria, Type Viia	Anisopoikilocytosis, Anemia, Neutropenia	OMIM:619835
Cutis Marmorata Telangiectatica Congenita	Leukocoria	OMIM:219250
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Myocardial necrosis, Persistence of hemoglobi...	OMIM:260400
Acute Promyelocytic Leukemia	Pancytopenia, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia	ORPHA:520
Intellectual Disability-Alacrima-Achalasia Syndrome	Anisocoria	ORPHA:289483
Hypophosphatemic Rickets, X-Linked Dominant	Osteomalacia, Abnormal circulating calcium concentration, Enamel hypomineralization, Rickets, Hyp...	OMIM:307800
Methylmalonic Acidemia With Homocystinuria Type Cblf	Hypomethioninemia, Megaloblastic anemia, Abnormal heart morphology, Hyperhomocystinemia, Elevated...	ORPHA:79284
Autosomal Agammaglobulinemia	Cellulitis, Neutropenia	ORPHA:33110
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Cataract, Scarring alopecia of scalp, Ectopia pupillae, Astigmatism, Enamel hypoplasia	OMIM:618727
Schimke Immunoosseous Dysplasia	Osteopenia, Pancytopenia, Abnormal T cell morphology, Anemia, Neutropenia, Lymphopenia, Thrombocy...	OMIM:242900
Systemic Lupus Erythematosus 17	Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia	OMIM:301080
Neonatal Alloimmune Neutropenia	Neutropenia in presence of anti-neutropil antibodies	ORPHA:464370
Fanconi-Bickel Syndrome	Reduced subcutaneous adipose tissue, Hepatomegaly, Hypouricemia, Osteomalacia, Rickets, Hypophosp...	OMIM:227810
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste...	ORPHA:289176
Fanconi Renotubular Syndrome 1	Hypokalemia, Rickets, Osteomalacia, Hypophosphatemia	OMIM:134600
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Alagille Syndrome	Keratoconus, Abnormal pupil morphology, Corneal dystrophy	ORPHA:52
Charcot-Marie-Tooth Disease Type 1E	Anisocoria, Abnormal pupil morphology, Joint contracture of the hand	ORPHA:90658
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Reduced bone mineral den...	OMIM:617052
Fanconi Renotubular Syndrome 2	Osteopenia, Rickets, Osteomalacia, Hypophosphatemia	OMIM:613388
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hypercalcemia, Splenomegaly, Hypophosphatemia, Anemia	OMIM:239200
Congenital Disorder Of Glycosylation, Type Iic	Cellulitis, Neutrophilia, Reduction of neutrophil motility	OMIM:266265
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cataract, Buphthalmos, Congenital contracture, Persistent pupillary membrane, Peters anomaly	OMIM:613150
Exercise-Induced Malignant Hyperthermia	Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia...	ORPHA:466650
Lymphangiectasia, Intestinal	Lymphopenia, Neonatal hypoproteinemia	OMIM:152800
Noonan Syndrome 12	Lymphopenia, Ventricular septal defect, Tetralogy of Fallot, Thrombocytopenia	OMIM:618624
Fanconi Renotubular Syndrome 5	Hypophosphatemic rickets, Hypophosphatemia	OMIM:618913
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Thin bony cortex	ORPHA:75508
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract	OMIM:616722
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Hepatomegaly, Elevated circulating creatine kinase concentration, Microcytic anemia, Highly eleva...	OMIM:251900
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Atrial septal defect, Joint contracture, Neutropenia	OMIM:618005
Combined Oxidative Phosphorylation Deficiency 55	Elevated circulating creatine kinase concentration, Hypophosphatemia, Anemia, Hypomagnesemia, Hyp...	OMIM:619743
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Rickets, Hypercalcemia, Hypophosphatemia	OMIM:612089
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Hyponatremia, Pancytopenia, Hypertriglyceridemia, Pericardial effu...	ORPHA:167
Trichothiodystrophy 3, Photosensitive	Lymphopenia, Neutropenia	OMIM:616395
Dent Disease 1	Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosphatemia,...	OMIM:300009
Intestinal Botulism	Mydriasis	ORPHA:178481
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Toxin-Mediated Infectious Botulism	Mydriasis	ORPHA:230800
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia, Hypoproteinemia	OMIM:207731
Schimke Immuno-Osseous Dysplasia	Thrombocytopenia, Hyperlipidemia, Decreased proportion of naive CD8 T cells, Abnormal proportion ...	ORPHA:1830
Poikiloderma With Neutropenia	Splenomegaly, Leukopenia, Elevated circulating creatine kinase concentration, Neutropenia	OMIM:604173
Developmental Delay, Hypotonia, And Impaired Language	Neutropenia	OMIM:620012
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Mydriasis	OMIM:619365
Fanconi Anemia, Complementation Group I	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Neutropenia	OMIM:609053
Immunodeficiency 44	Lymphopenia	OMIM:616636
Hermansky-Pudlak Syndrome 2	Hepatomegaly, Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Hepatospleno...	OMIM:608233
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hepatomegaly, Hypouricemia, Rickets, Hypophosphatemia	OMIM:616026
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Neutropenia	OMIM:617827
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hypomagnesemia, Neutropen...	ORPHA:37042
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Fanconi Anemia, Complementation Group E	Pancytopenia, Reticulocytopenia, Abnormal heart morphology, Anemia, Neutropenia, Leukemia, Thromb...	OMIM:600901
Glycogen Storage Disease Ib	Hepatomegaly, Splenomegaly, Hyperlipidemia, Osteoporosis, Hyperuricemia, Neutropenia, Enlarged ki...	OMIM:232220
3-Methylglutaconic Aciduria Type 7	Cardiomyopathy, Infection associated neutropenia, Neutropenia	ORPHA:445038
Miller Fisher Syndrome	Anisocoria, Mydriasis	ORPHA:98919
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Hypouricemia, Increased circulating guanosine concentration, Pure re...	OMIM:613179
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Lipodystrophy, Elevated circulating C-reactive protein concentration, Leukocytosis,...	OMIM:617099
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microcornea, Ectopia pupillae, Cataract, Sclerocornea	OMIM:615877
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple...	OMIM:614700
Fusariosis	Brain abscess, Fasciitis, Lung abscess, Abnormality of the spleen, Cellulitis, Granuloma, Pannicu...	ORPHA:228119
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloprolife...	ORPHA:3226
Cystinosis	Hypokalemia, Rickets, Hypophosphatemia	ORPHA:213
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Hepatomegaly, Splenomegaly, Hypocalcemic seizures, Osteopetr...	OMIM:612301
Fanconi Anemia, Complementation Group A	Pancytopenia, Reticulocytopenia, Abnormal heart morphology, Anemia, Neutropenia, Leukemia, Thromb...	OMIM:227650
Rothmund-Thomson Syndrome	Osteopenia, Abnormal trabecular bone morphology, Calcinosis, Aplastic anemia, Abnormal dental ena...	ORPHA:2909
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Hepatomegaly, Neutrophilia, Abscess, Elevated circulating C-reactive protein concentr...	OMIM:612852
Acute Generalized Exanthematous Pustulosis	Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia	ORPHA:293173
Immunodeficiency 23	Hemolytic anemia, Eosinophilia, Abscess, Neutropenia, Lymphopenia	OMIM:615816
Sneddon Syndrome	Atrophic scars, Lymphopenia, Bicuspid aortic valve	OMIM:182410
Evans Syndrome	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr...	ORPHA:1959
Oculo-Palato-Cerebral Syndrome	Cataract, Leukocoria, Joint hypermobility	ORPHA:2714
Sepsis In Premature Infants	Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ...	ORPHA:90051
Vici Syndrome	Atrial septal defect, Left ventricular hypertrophy, Elevated circulating creatine kinase concentr...	OMIM:242840
3-Methylglutaconic Aciduria, Type Viib	Leukopenia, Flexion contracture, Thrombocytopenia, Neutropenia	OMIM:616271
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	T lymphocytopenia, Lymphopenia, B lymphocytopenia	ORPHA:277
Mccune-Albright Syndrome	Pancytopenia, Osteomalacia, Fibrous dysplasia of the bones, Polyostotic fibrous dysplasia, Aneury...	ORPHA:562
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Hip contracture, Hypercalcemia, Knee flexion contracture, Hypophosphatemia	OMIM:156400
Oculodentodigital Dysplasia, Autosomal Recessive	Microcornea, Cataract, Persistent pupillary membrane	OMIM:257850
Iatrogenic Botulism	Mydriasis	ORPHA:254509
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla...	OMIM:250250
Oculocerebrorenal Syndrome Of Lowe	Inguinal hernia, Cataract, Corneal opacity, Chorioretinal dysplasia, Osteomalacia, Recurrent frac...	ORPHA:534
Immunodeficiency 36 With Lymphoproliferation	Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cells, Decreased...	OMIM:616005
Wound Botulism	Mydriasis	ORPHA:178475
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Umbi...	OMIM:617237
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Mydriasis	ORPHA:247815
Fanconi Anemia, Complementation Group C	Pancytopenia, Ventricular septal defect, Flexion contracture, Reticulocytopenia, Anemia, Neutrope...	OMIM:227645
Fibrous Dysplasia Of Bone	Thin bony cortex, Cortical irregularity, Osteomalacia, Hypercalcemia, Fibrous dysplasia of the bo...	ORPHA:249
Fanconi-Bickel Syndrome	Osteopenia, Hepatomegaly, Hypertriglyceridemia, Rickets, Hypophosphatemia	ORPHA:2088
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Hyperalaninemia, Hypertrophic cardiomyopathy, Hyperammonemia, Neutropenia	OMIM:615471
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Lymphopenia, Thrombocytopenia	OMIM:616744
Nephronophthisis 11	Anisocoria	OMIM:613550
Megalocornea-Intellectual Disability Syndrome	Osteopenia, Iridodonesis, Hypoplasia of the iris, Joint hyperflexibility, Astigmatism, Megalocorn...	ORPHA:2479
Hermansky-Pudlak Syndrome 10	Hepatomegaly, Splenomegaly, Neutropenia	OMIM:617050
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Hepatomegaly, Splenomegaly, Neutropenia, Thrombocytopenia	OMIM:308230
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Splenomegaly, Flexion contracture, Anemia, Pan...	OMIM:617591
Relapsing Fever	Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Elevated circu...	ORPHA:91547
Aspergillosis	Eosinophilia, Neutropenia	ORPHA:1163
Trichothiodystrophy	Osteopenia, Increased bone mineral density, Multiple joint contractures, Ventricular septal defec...	ORPHA:33364
Inhalational Botulism	Mydriasis	ORPHA:254504
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Hypoproteinemia	ORPHA:1116
Aortic Aneurysm, Familial Thoracic 6	Iris flocculi	OMIM:611788
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Hypophosphatemia	OMIM:308990
Immunodeficiency 85 And Autoimmunity	T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr...	OMIM:619510
Congenital Fibrosis Of Extraocular Muscles	Anisocoria, Abnormal pupil shape, Cataract	ORPHA:45358
X-Linked Hypophosphatemia	Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Rickets, Vertebral hyperostosis, R...	ORPHA:89936
Spondyloenchondrodysplasia With Immune Dysregulation	Autoimmune thrombocytopenia, T lymphocytopenia, Sclerosis of skull base, Neutropenia, Lymphopenia	OMIM:607944
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
Adult-Onset Still Disease	Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ...	ORPHA:829
Pearson Syndrome	Reticulocytosis, Pancytopenia, Hepatomegaly, Splenomegaly, Hypomagnesemia, Abnormal heart morphol...	ORPHA:699
Whim Syndrome	Neutropenia, Tetralogy of Fallot, Abnormal neutrophil morphology, Cellulitis, Lymphopenia	ORPHA:51636
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph...	ORPHA:331206
Rothmund-Thomson Syndrome Type 1	Osteopenia, Abnormal trabecular bone morphology, Calcinosis, Aplastic anemia, Abnormal dental ena...	ORPHA:221008
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Hepatomegaly, Thrombocytopenia, Reticulocytopenia, Hyperbilir...	OMIM:557000
Cutis Marmorata Telangiectatica Congenita	Leukocoria, Reduced bone mineral density	ORPHA:1556
Diamond-Blackfan Anemia	Acute myeloid leukemia, Ventricular septal defect, Pure red cell aplasia, Erythroid hypoplasia, R...	ORPHA:124
Oncogenic Osteomalacia	Fibrous dysplasia of the bones, Hypocalcemia, Hypophosphatemia	ORPHA:352540
Achalasia-Addisonianism-Alacrima Syndrome	Anisocoria	OMIM:231550
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An...	ORPHA:2330
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatosplenome...	OMIM:619644
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci...	OMIM:242700
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Cystathioni...	OMIM:277400
Pierson Syndrome	Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Uveal ectropion, Hypoplasia of the iris...	OMIM:609049
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ectopia pupillae, Corneal opacity, Lens subluxation	ORPHA:85167
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le...	ORPHA:906
Shwachman-Diamond Syndrome 2	Normocytic anemia, Hepatomegaly, Thrombocytopenia, Neutropenia	OMIM:617941
Botulism	Mydriasis	ORPHA:1267
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Hypercalcemia, Osteomalacia, Hypermagnesemia, Hypocalcemic seizures, Lipo...	ORPHA:405
Rothmund-Thomson Syndrome Type 2	Osteopenia, Abnormal trabecular bone morphology, Calcinosis, Aplastic anemia, Abnormal dental ena...	ORPHA:221016
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Abnormal pulmonary valve morphology, Craniosynostosis, Splenomegaly, Reduced bone m...	ORPHA:667
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Pericardial effusion, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased p...	ORPHA:90362
Osteopetrosis, Autosomal Recessive 5	Increased bone mineral density, Cranial hyperostosis, Decreased osteoclast count, Osteopetrosis, ...	OMIM:259720
Cartilage-Hair Hypoplasia	Hepatomegaly, Abnormally ossified vertebrae, Neutropenia, Cardiomyopathy, Abnormal cardiac septum...	ORPHA:175
Revesz Syndrome	Megalocornea, Leukocoria	OMIM:268130
Khan-Khan-Katsanis Syndrome	Corneal scarring, Neutropenia, Joint contracture, Lymphopenia, Patent foramen ovale, Anemia	OMIM:618460
Agammaglobulinemia 1, Autosomal Recessive	B lymphocytopenia, Rectal abscess, Neutropenia	OMIM:601495
Combined Oxidative Phosphorylation Deficiency 41	Elevated circulating creatine kinase concentration, Anemia, Cardiomegaly	OMIM:618838
Knobloch Syndrome 1	Band keratopathy, Chorioretinal atrophy, Developmental cataract, Iris transillumination defect, L...	OMIM:267750
Foodborne Botulism	Mydriasis	ORPHA:228371
Trichinellosis	Anisocoria, Conjunctival hyperemia, Conjunctivitis, Abnormal uvea morphology	ORPHA:863
Bare Lymphocyte Syndrome, Type Ii	Neutropenia	OMIM:209920
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Osteopenia, Thrombocytopenia, Lymphopenia, Anemia	OMIM:620365
Attrv122I Amyloidosis	Increased circulating NT-proBNP concentration, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic ...	ORPHA:85451
Herpes Simplex Virus Encephalitis	Hyponatremia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration	ORPHA:1930
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Dilated cardiomyopathy, Hyperamm...	ORPHA:79282
Leigh Syndrome	Multiple joint contractures, Ventricular septal defect, Neutropenia, Hyperalaninemia, Hypertrophi...	ORPHA:506
Oculoauricular Syndrome	Cataract, Sclerocornea, Chorioretinal atrophy, Developmental cataract, Microcornea, Iris cyst, Po...	OMIM:612109
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Hypouricemia, Autoimmune thrombocytopenia, Abnormal T cell morpholog...	ORPHA:760
Agammaglobulinemia, X-Linked	Cor pulmonale, T lymphocytopenia, B lymphocytopenia, Neutropenia, Anemia	OMIM:300755
Neuhauser Syndrome	Hypoplasia of the iris, Iridodonesis, Megalocornea, Osteopenia	OMIM:249310
Infant Botulism	Keratoconjunctivitis sicca, Mydriasis	ORPHA:178478
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Lymphopenia, Abnormally low T cell receptor excision circle level	OMIM:619767
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Contracture of the proximal interphalangeal joint of the 4th finger, Ectopia pupillae, Contractur...	OMIM:618223
Retinoblastoma	Leukocoria, Uveitis, Cellulitis, Hypopyon, Heterochromia iridis	ORPHA:790
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Hepatosplenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibo...	OMIM:615952
Late-Onset Retinal Degeneration	Iris atrophy, Choroidal neovascularization, Abnormal anterior eye segment morphology, Chorioretin...	ORPHA:67042
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration...	ORPHA:54251
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymphopenia, Hepatomegaly, Decreased proportion of naive T cells, Abnormally low T cell receptor ...	ORPHA:276
Saul-Wilson Syndrome	Neutropenia	OMIM:618150
1Q41Q42 Microdeletion Syndrome	Abnormality iris morphology, Congenital diaphragmatic hernia	ORPHA:250999
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased proportion of CD3-positive T cells, Lymphopenia, Eosinophilia, Hepatosplenomegaly	ORPHA:169160
Uremic Pruritus	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Anisocoria	OMIM:615510
X-Linked Intellectual Disability, Nascimento Type	Recurrent cutaneous abscess formation, Ventricular septal defect, Double outlet right ventricle, ...	ORPHA:163956
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Aplasia of the thymus, Eosinophilia, Splenomegaly, B lymphocytopenia, Abnormally lo...	OMIM:602450
Dent Disease	Renal hypophosphatemia, Osteomalacia, Elevated circulating creatine kinase concentration, Delayed...	ORPHA:1652
Cohen Syndrome	Mitral valve prolapse, Ventricular septal defect, Neutropenia	ORPHA:193
Scalp-Ear-Nipple Syndrome	Cataract, Developmental cataract, Anisocoria, Multiple lipomas, Iris coloboma	OMIM:181270
Fanconi Anemia, Complementation Group D2	Pancytopenia, Reticulocytopenia, Abnormal heart morphology, Anemia, Neutropenia, Leukemia, Thromb...	OMIM:227646
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Hepatomegaly, Hypertriglyceridemia, Chronic neutropenia, Hyperlipidemia, Osteoporosis...	ORPHA:79259
Congenital Muscular Dystrophy With Cerebellar Involvement	Megalocornea, Cataract, Abnormality iris morphology	ORPHA:370959
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Abscess, Perianal abscess, Splenomegaly, Hepatosplenomegaly, Impaired oxidative...	OMIM:618935
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp...	ORPHA:436159
Autoimmune Lymphoproliferative Syndrome	Reticulocytosis, Autoimmune hemolytic anemia, Hepatomegaly, Eosinophilia, Autoimmune thrombocytop...	ORPHA:3261
Psoriasis 14, Pustular	Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration	OMIM:614204
Kikuchi-Fujimoto Disease	Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Myocarditis, A...	ORPHA:50918
Cryptogenic Organizing Pneumonia	Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration	ORPHA:1302
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Patent foramen ovale, Neutr...	ORPHA:391487
Legionnaires Disease	Hyponatremia, Pericarditis, Myocarditis, Splenomegaly, Endocarditis, Cellulitis, Lymphopenia	ORPHA:549
Pediatric-Onset Graves Disease	Hepatomegaly, Craniosynostosis, Splenomegaly, Neutropenia in presence of anti-neutropil antibodie...	ORPHA:525731
Norrie Disease	Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Corneal opacity, Sclerocornea,...	ORPHA:649
Mirage Syndrome	Hyponatremia, Radial club hand, Hyperkalemia, Anemia, Leukopenia, Hypoplastic spleen, Lymphopenia...	OMIM:617053
Juvenile Glaucoma	Abnormal anterior chamber morphology, Abnormality iris morphology	ORPHA:98977
Icf Syndrome	Anemia, Umbilical hernia, Lymphopenia, Abnormality of neutrophils	ORPHA:2268
Hereditary Fructose Intolerance	Hepatomegaly, Hypermagnesemia, Hyperuricemia, Hypophosphatemia	ORPHA:469
Raine Syndrome	Increased bone mineral density, Subperiosteal bone formation, Hypophosphatemia, Arthrogryposis mu...	OMIM:259775
Isotretinoin-Like Syndrome	Inguinal hernia, Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Conotruncal defect...	ORPHA:2306
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Joint laxity, Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the ant...	OMIM:601552
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphopenia	OMIM:616100
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Anisocoria, Inguinal hernia	OMIM:618653
Diamond-Blackfan Anemia 1	Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ...	OMIM:105650
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Omphalocele, Autoimmune hemolytic ane...	OMIM:243150
Toxic Epidermal Necrolysis	Abnormal myocardium morphology, Thrombocytopenia, Anemia, Neutropenia	ORPHA:537
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi...	ORPHA:247353
Sweet Syndrome	Acute myeloid leukemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leuk...	ORPHA:3243
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Inguinal hernia, Transient neutropenia, Ventricular septal defect, Chronic neutropenia, Abnormal ...	ORPHA:500095
Zygomycosis	Brain abscess, Pericarditis, Fasciitis, Myocarditis, Osteolysis, Endocarditis, Neutropenia, Splen...	ORPHA:73263
Infantile Nephropathic Cystinosis	Hypokalemia, Rickets, Abnormal blood ion concentration, Hypophosphatemia	ORPHA:411629
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Delayed ossification of carpal bones, Neutropenia	OMIM:271510
Cystinosis, Nephropathic	Hyponatremia, Hepatomegaly, Splenomegaly, Rickets, Reduced blood urea nitrogen, Hypophosphatemia,...	OMIM:219800
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Inc...	OMIM:603903
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Corneal opacity, Polycoria, Developmental cataract, Microcornea, Hypoplasia of the iris, Ectopia ...	OMIM:175780
Hermansky-Pudlak Syndrome	Cardiomyopathy, Abnormal dental enamel morphology, Neutropenia	ORPHA:79430
Charcot-Marie-Tooth Disease Type 4C	Anisocoria	ORPHA:99949
Weill-Marchesani Syndrome 2	Iridodonesis, Cataract, Lens luxation, Ectopia lentis, Joint stiffness, Microspherophakia, Elbow ...	OMIM:608328
Oculodentodigital Dysplasia	Cataract, Camptodactyly of finger, Abnormal dental enamel morphology, Cranial hyperostosis, Abnor...	ORPHA:2710
Hyperparathyroidism-Jaw Tumor Syndrome	Hypercalcemia, Osteoporosis, Hypophosphatemia, Lipoma, Chondrocalcinosis	ORPHA:99880
Staphylococcal Necrotizing Pneumonia	Leukopenia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration	ORPHA:36238
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce...	ORPHA:411634
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Iris atrophy, Cataract, Recurrent fractures, Osteoporosis, Increased susceptibility t...	OMIM:259770
Primary Fanconi Renotubular Syndrome	Hypouricemia, Osteomalacia, Bicarbonaturia, Hypophosphatemia, Hypokalemia, Decreased circulating ...	ORPHA:3337
Bickerstaff Brainstem Encephalitis	Anisocoria, Mydriasis	ORPHA:79138
Parathyroid Carcinoma	Hypercalcemia, Osteoporosis, Hypophosphatemia, Lipoma, Chondrocalcinosis	ORPHA:143
Serotonin Syndrome	Mydriasis	ORPHA:43116
Superficial Siderosis	Anisocoria	ORPHA:247245
Retinoblastoma	Leukocoria	OMIM:180200
Glycogen Storage Disease Ic	Hepatomegaly, Hyperlipidemia, Cyclic neutropenia, Hyperuricemia	OMIM:232240
Selective Igm Deficiency	Decreased proportion of CD4-positive T cells, Fasciitis, Autoimmune thrombocytopenia, Decreased p...	ORPHA:331235
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Inguinal hernia, Lymphopenia, Anemia, Reduced bone mineral density	ORPHA:935
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ...	OMIM:231005
Craniotubular Dysplasia, Ikegawa Type	Sclerosis of skull base, Thin bony cortex, Mydriasis	OMIM:619727
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Osteoporosis, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia...	OMIM:127550
Wolf-Hirschhorn Syndrome	Vertebral fusion, Rieger anomaly, Abnormal sternal ossification, Ectopia pupillae, Radioulnar syn...	OMIM:194190
Thauvin-Robinet-Faivre Syndrome	Inguinal hernia, Transient neutropenia, Ventricular septal defect, Mitral valve prolapse	OMIM:617107
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Pancytopenia, Hypersplenism, Neutropenia in presence of anti-neutropil antibodies, Hepatosplenome...	ORPHA:228426
Intellectual Developmental Disorder, Autosomal Dominant 54	Neutropenia	OMIM:617799
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Absent natural kil...	OMIM:600802
Opsismodysplasia	Hypophosphatemia	OMIM:258480
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosin...	OMIM:102700
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, ...	OMIM:615688
Multisystemic Smooth Muscle Dysfunction Syndrome	Mydriasis	OMIM:613834
Pituitary Apoplexy	Mydriasis	ORPHA:95613
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp...	ORPHA:35078
Syndromic Diarrhea	Hepatomegaly, Inguinal hernia, Bicuspid aortic valve, Ventricular septal defect, Increased mean p...	ORPHA:84064
Alport Syndrome 3A, Autosomal Dominant	Azotemia, Hypophosphatemia	OMIM:104200
Arachnoid Cyst	Mydriasis	ORPHA:2356
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Mildly elevated c...	ORPHA:79102
Collagenoma, Familial Cutaneous	Iris atrophy	OMIM:115250
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ...	OMIM:249100
Sponastrime Dysplasia	Joint laxity, Cataract, Generalized joint laxity, Delayed epiphyseal ossification, Ivory epiphyse...	ORPHA:93357
Vascular Ehlers-Danlos Syndrome	Keratoconus, Inguinal hernia, Abnormal pupil morphology, Osteoarthritis, Cigarette-paper scars, O...	ORPHA:286
Witteveen-Kolk Syndrome	Joint laxity, Inguinal hernia, Cataract, Congenital diaphragmatic hernia, Contracture of the dist...	OMIM:613406
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Iris atrophy, Cataract, Abnormal pupil morphology, Flexion contracture, Microcornea, Ectopia pupi...	ORPHA:261552
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic...	OMIM:619573
Fructose Intolerance, Hereditary	Hepatomegaly, Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia	OMIM:229600
Neonatal Marfan Syndrome	Iridodonesis, Lipoatrophy, Ectopia lentis, Flexion contracture, Megalocornea, Joint hypermobility	ORPHA:284979
Alternating Hemiplegia Of Childhood	Mydriasis	ORPHA:2131
Aspartylglucosaminuria	Hepatomegaly, Vacuolated lymphocytes, Hernia, Neutropenia	OMIM:208400
Mowat-Wilson Syndrome	Cataract, Microcornea, Ectopia pupillae, Chorioretinal coloboma, Iris coloboma	OMIM:235730
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Osteopenia, Autoimmune hemolytic anem...	OMIM:614162
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Mydriasis	OMIM:619351
Pneumocystosis	Abnormal neutrophil count	ORPHA:723
3-Methylglutaconic Aciduria, Type Viii	Neutropenia	OMIM:617248
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Inguinal hernia, Abnormality of connective tissue, Abnormality iris morphology	ORPHA:91387
Cocaine Intoxication	Mydriasis	ORPHA:90068
Hyper-Igd Syndrome	Splenomegaly, Leukocytosis, Neutrophilia, Hepatosplenomegaly	OMIM:260920
Reynolds Syndrome	Calcinosis, Hepatomegaly, Splenomegaly, Hyperbilirubinemia, Lymphopenia	OMIM:613471
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Tubulointerstitial Nephritis And Uveitis Syndrome	Nongranulomatous uveitis, Anterior uveitis, Cataract, Choroidal neovascularization, Anterior cham...	ORPHA:91500
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Atypical scarring of skin, Anemia, Neutropenia	ORPHA:95455
Scorpion Envenomation	Mydriasis	ORPHA:466677
Multiple System Atrophy 1, Susceptibility To	Iris atrophy	OMIM:146500
Plague	Arthritis, Conjunctival hyperemia, Mydriasis	ORPHA:707
Acrofrontofacionasal Dysostosis 1	Iris atrophy	OMIM:201180
Yellow Fever	Neutrophilia, Elevated circulating creatine kinase concentration, Pancreatic hyperplasia, Leukocy...	ORPHA:99829
Neurooculorenal Syndrome	Iris atrophy	OMIM:620305

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 Sfrp1

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 Sfrp1.

No publications found that use IMPC mice or data for Sfrp1.

Order Mouse and ES Cells

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MGI Allele	Allele Type	Produced
Sfrp1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Sfrp1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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