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Gene: Soat1 MGI:104665

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

sterol O-acyltransferase 1

Synonyms:

8430426K15Rik, Acact, hid, ACAT-1

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Soat1 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 Soat1 (0 diseases)
Human diseases predicted to be associated with Soat1 (436 diseases)

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

The table below shows human diseases predicted to be associated to Soat1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Pili Gemini	Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Ab...	ORPHA:79492
Discoid Fibromas, Familial Multiple	Abnormal hair morphology	OMIM:190340
Ringed Hair	Abnormal hair morphology	OMIM:180600
Hairy Nose Tip	Abnormal hair morphology	OMIM:139630
Striate Palmoplantar Keratoderma	Abnormal hair morphology, Abnormality of the nail	ORPHA:50942
Keratosis Palmoplantaris Striata Iii	Abnormal hair morphology, Abnormality of the nail	OMIM:607654
Thyroid Hormone Metabolism, Abnormal, 2	Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentration, Hypercholestero...	OMIM:619855
Hypotrichosis 9	Sparse body hair, Sparse scalp hair	OMIM:614237
Pili Bifurcati	Abnormal hair morphology, Abnormality of hair texture	ORPHA:720
Hypotrichosis 1	Sparse body hair, Sparse eyebrow, Sparse axillary hair, Sparse pubic hair, Sparse eyelashes, Spar...	OMIM:605389
Hypertriglyceridemia 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia	OMIM:619324
Ringed Hair Disease	Abnormal hair pattern, Fine hair	ORPHA:169
Alopecia Areata 2	Alopecia of scalp, Alopecia universalis, Patchy alopecia, Alopecia totalis	OMIM:610753
Lymphoblastic Leukemia, Acute, With Lymphomatous Features	Lymphoma, T-cell acute lymphoblastic leukemias, Acute lymphoblastic leukemia	OMIM:247640
Alopecia Totalis	Alopecia, Alopecia of scalp	ORPHA:700
Pseudopili Annulati	Abnormality of hair texture, Abnormality of the scalp hair	OMIM:613241
Alopecia, Congenital	Alopecia, Sparse hair	OMIM:300042
Hypertrichosis Lanuginosa Congenita	Double eyebrow, Congenital, generalized hypertrichosis	OMIM:145700
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Alopecia Universalis Congenita	Absent eyelashes, Alopecia universalis, Absent pubic hair, Absent eyebrow, Absent axillary hair	OMIM:203655
Alopecia-Intellectual Disability Syndrome 1	Alopecia, Alopecia universalis	OMIM:203650
Hypotrichosis 11	Aplasia/Hypoplasia of the eyebrow, Alopecia universalis, Sparse hair, Absent axillary hair, Spars...	OMIM:615059
Hypotrichosis Simplex	Sparse body hair, Alopecia, Sparse eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse hair	ORPHA:55654
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Increased hepatic glycogen content, Hyperlipidemia, Hypercholester...	OMIM:232700
Hypotrichosis 4	Sparse body hair, Alopecia, Sparse eyebrow, Sparse scalp hair, Uncombable hair, Sparse eyelashes	OMIM:146550
Atrichia With Papular Lesions	Sparse hair	OMIM:209500
Alopecia, Familial Focal	Patchy alopecia	OMIM:104110
Alopecia-Intellectual Disability Syndrome 3	Alopecia universalis	OMIM:613930
Alopecia-Intellectual Disability Syndrome 2	Alopecia universalis	OMIM:610422
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Hypotrichosis 10	Sparse body hair, Sparse eyelashes, Sparse eyebrow	OMIM:614238
Myeloproliferative Syndrome, Transient	Transient myeloproliferative syndrome, Leukocytosis	OMIM:159595
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Impaired lymphocyte transformation with phytohemagglutinin, Lymphoma, Monoclonal immunoglobulin M...	OMIM:153600
Glioma Susceptibility 9	Astrocytoma, Renal neoplasm, Glioma, Leukemia, Neoplasm of the lung	OMIM:616568
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Refractory anemia with ringe...	OMIM:133180
Alopecia Universalis	Absent eyelashes, Absent eyebrow, Alopecia universalis, Patchy alopecia	ORPHA:701
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis	Sparse hair	OMIM:246500
Isolated Anencephaly	Maternal diabetes, Thymus hyperplasia, Adrenal hypoplasia	ORPHA:563609
Papular Xanthoma	Histiocytosis, Hyperlipidemia	ORPHA:158008
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Myeloproliferative Disorder, Chronic, With Eosinophilia	Malignant eosinophil proliferation, Eosinophilia, Myeloproliferative disorder	OMIM:131440
Alopecia Areata 1	Trachyonychia, Alopecia universalis, Alopecia totalis, Nail pits, Patchy alopecia	OMIM:104000
Hypertrichosis, Anterior Cervical	Anterior cervical hypertrichosis	OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type	Congenital, generalized hypertrichosis	OMIM:145701
Ichthyosis-Hypotrichosis Syndrome	Sparse hair	ORPHA:91132
Hypertrichosis, Congenital Generalized	Hirsutism, Congenital, generalized hypertrichosis	OMIM:307150
Juvenile Myelomonocytic Leukemia	Juvenile myelomonocytic leukemia	OMIM:607785
Cholesterol-Ester Transfer Protein Deficiency	Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem...	ORPHA:79506
Witkop Syndrome	Small nail, Fine hair, Nail pits, Ridged nail, Concave nail, Sparse hair	OMIM:189500
Ectodermal Dysplasia 6, Hair/Nail Type	Alopecia, Thin toenail, Sparse hair, Dystrophic toenail	OMIM:614928
Cholestasis, Progressive Familial Intrahepatic, 10	Increased total bilirubin, Elevated circulating alanine aminotransferase concentration, Jaundice,...	OMIM:619868
Congenital Disorder Of Glycosylation, Type Iip	Decreased circulating ceruloplasmin concentration, Elevated hepatic transaminase, Hepatic steatos...	OMIM:616829
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia, Alopecia of scalp	OMIM:260910
Cholesteryl Ester Storage Disease	Cirrhosis, Hepatic failure, Jaundice, Hepatomegaly, Hypercholesterolemia, Adrenal calcification, ...	ORPHA:75234
Hypothyroidism, Congenital, Nongoitrous, 8	Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu...	OMIM:301033
Coronary Artery Disease, Autosomal Dominant, 1	Diabetes mellitus, Hypercholesterolemia	OMIM:608320
Li-Fraumeni Syndrome	Nephroblastoma, Breast carcinoma, Prostate cancer, Adrenocortical carcinoma, Choriocarcinoma, Neo...	OMIM:151623
Graham Little-Piccardi-Lassueur Syndrome	Alopecia, Sparse scalp hair, Sparse pubic hair, Sparse axillary hair	ORPHA:505
Woolly Hair, Autosomal Recessive 3	Sparse scalp hair, Trichorrhexis nodosa, Curly hair, Fine hair, Sparse eyelashes, Sparse hair	OMIM:616760
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency	Increased circulating ACTH level, Congenital adrenal hyperplasia	OMIM:613571
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia	OMIM:144300
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Alopecia totalis	ORPHA:1014
Myeloproliferative Disease, Autosomal Recessive	Myeloproliferative disorder	OMIM:254700
Pigmented Nodular Adrenocortical Disease, Primary, 3	Increased circulating cortisol level, Adrenal hyperplasia	OMIM:614190
Uncombable Hair Syndrome	Trichodysplasia, Woolly hair, White hair, Patchy alopecia, Coarse hair, Abnormal hair morphology	ORPHA:1410
Hypercholesterolemia, Familial, 4	Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia	OMIM:603813
Li-Fraumeni Syndrome	Acute myeloid leukemia, Neoplasm of the gastrointestinal tract, Neoplasm of the central nervous s...	ORPHA:524
Ectodermal Dysplasia 9, Hair/Nail Type	Absent hair, Absent eyelashes, Nail dysplasia, Concave nail, Sparse hair, Nail dystrophy, Atrichia	OMIM:614931
Lipoid Congenital Adrenal Hyperplasia	Adrenogenital syndrome, Congenital adrenal hyperplasia	OMIM:201710
Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality	Congenital alopecia totalis, Alopecia universalis	OMIM:104130
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Reduced terminal:vellus ratio, Sparse hair, Pili torti	OMIM:601553
Morbid Obesity And Spermatogenic Failure	Type II diabetes mellitus, Hepatic steatosis, Increased LDL cholesterol concentration, Decreased ...	OMIM:615703
Hemophagocytic Lymphohistiocytosis, Familial, 3	Anemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Hypertriglyceridemia	OMIM:608898
Nut Midline Carcinoma	Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Pancreatic squamous cell carcinom...	ORPHA:443167
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Thrombocytopenia, Myelodysplasia, Increased mean corpuscular volume	OMIM:252270
Congenital Disorder Of Glycosylation, Type Iio	Cirrhosis, Hepatic failure, Cholestatic liver disease, Decreased circulating ceruloplasmin concen...	OMIM:616828
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Cervical Hypertrichosis With Underlying Kyphoscoliosis	Sacral hypertrichosis, Lumbar hypertrichosis, Anterior cervical hypertrichosis, Thoracic hypertri...	OMIM:117850
Loose Anagen Syndrome	Abnormal hair morphology, Abnormal hair whorl	ORPHA:168
Mismatch Repair Cancer Syndrome 2	T-cell acute lymphoblastic leukemias, Colon cancer, Glioblastoma multiforme	OMIM:619096
Trichodysplasia-Xeroderma Syndrome	Sparse body hair, Alopecia, Sparse eyebrow, Sparse scalp hair, Trichorrhexis nodosa, Pili torti, ...	ORPHA:3361
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer	Acute myeloid leukemia, Colon cancer, Adenomatous colonic polyposis	OMIM:246470
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type	Sparse scalp hair, Sparse axillary hair, Sparse pubic hair, Abnormality of the nail, Onychogrypos...	ORPHA:1808
Leukemia, Acute, X-Linked	Acute leukemia	OMIM:308960
Leukemia, Acute Lymphoblastic	Acute lymphoblastic leukemia	OMIM:613065
Leukemia, Acute Monocytic	Acute monocytic leukemia	OMIM:151380
Leukemia, Acute Myeloid	Acute myeloid leukemia	OMIM:601626
Lysosomal Acid Lipase Deficiency	Adrenal insufficiency, Hepatosplenomegaly, Hepatic steatosis, Bone-marrow foam cells, Hepatomegal...	OMIM:278000
Ras-Associated Autoimmune Leukoproliferative Disorder	Lymphoma, Splenomegaly, Hemolytic anemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopeni...	OMIM:614470
N Syndrome	Neoplasm, Leukemia, Cryptorchidism	OMIM:310465
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Elevated circulating apolipoprotein B concentration, In...	OMIM:144250
Glycogen Storage Disease Ixa1	Hyperuricemia, Elevated hepatic transaminase, Hepatomegaly, Hypercholesterolemia, Hypertriglyceri...	OMIM:306000
Marie Unna Hereditary Hypotrichosis	Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair, Coarse hair, Sparse or absent eye...	ORPHA:444
Ectodermal Dysplasia 4, Hair/Nail Type	Sparse body hair, Alopecia, Pili torti, Brittle hair, Absent eyelashes, Temporal hypotrichosis, O...	OMIM:602032
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Hypoplasia of the thymus, Lymphopenia	OMIM:200900
Angioma Serpiginosum, X-Linked	Sparse hair, Nail dystrophy, Fine hair	OMIM:300652
Lipodystrophy, Congenital Generalized, Type 3	Hepatosplenomegaly, Hepatic steatosis, Diabetes mellitus, Hepatomegaly, Hypercholesterolemia, Hyp...	OMIM:612526
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Lymphoma, Leukopenia, Acute myeloid leukemia, Myelodysplasia, Bone marrow hypocellularity, Refrac...	OMIM:616871
Fanconi Anemia, Complementation Group G	Anemia, Myelodysplasia, Thrombocytopenia, Neutropenia, Leukemia	OMIM:614082
Parc Syndrome	Absent eyelashes, Alopecia, Absent eyebrow	OMIM:600331
Hyperaldosteronism, Familial, Type I	Hyperaldosteronism, Decreased circulating renin level, Adrenogenital syndrome, Adrenal hyperplasia	OMIM:103900
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Sparse body hair, Alopecia, Dystrophic toenail, Alopecia of scalp, Onychogryposis of toenails	OMIM:617294
Alpha-Thalassemia-Myelodysplastic Syndrome	Neutropenia, Myelodysplasia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Micr...	ORPHA:231401
Nail Disorder, Nonsyndromic Congenital, 3	Abnormal hair morphology, Leukonychia, Concave nail	OMIM:151600
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Anemia, Myelodysplasia, Pancytopenia, Bone marrow hypocellularity, Increa...	OMIM:619041
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Myelodysplasia, Acute lymphoblastic leukemia, Hepatocellular carcinoma, H...	ORPHA:158057
Histiocytosis, Familial Lipochrome	Increased alpha-globulin, Histiocytosis	OMIM:235900
Generalized Eruptive Histiocytosis	Hypereosinophilia, Lymphadenopathy, Histiocytosis, Leukemia	ORPHA:157991
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Anemia, Increased LDL cholesterol concentration, Decreased HDL cholestero...	OMIM:607616
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2	Myeloid leukemia, Pancytopenia, Bone marrow hypocellularity, Aplastic anemia, Leukemia	OMIM:614743
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Cirrhosis, Scleros...	OMIM:619662
Lymphedema, Primary, With Myelodysplasia	Acute myeloid leukemia, Decreased CD4:CD8 ratio, Myelodysplasia, Pancytopenia, Leukemia, Verrucae	OMIM:614038
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormality of neutrophils, Abnormal macrophage morphology	ORPHA:2690
Hypereosinophilic Syndrome, Idiopathic	Splenomegaly, Eosinophilia, Myeloproliferative disorder	OMIM:607685
Unclassified Myelodysplastic Syndrome	Acute myeloid leukemia, Myelodysplasia, Bone marrow hypocellularity, Leukocytosis, Multiple linea...	ORPHA:98827
Reticular Dysgenesis	Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus, Lymphopenia	OMIM:267500
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia	OMIM:615863
Monilethrix	Alopecia, Brittle hair, Nail dysplasia, Abnormality of hair texture, Sparse hair, Nail dystrophy	OMIM:158000
Cutaneous Neuroendocrine Carcinoma	Squamous cell carcinoma of the skin, Lymphoid leukemia, Neoplasm of the outer ear, Multiple myelo...	ORPHA:79140
Hypotrichosis 12	Dry hair, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Sparse or absent eyelashes, Slow-growin...	OMIM:615885
Uncombable Hair Syndrome 3	Pili canaliculi, Curly hair, Uncombable hair, Brittle hair	OMIM:617252
Apolipoprotein C-Ii Deficiency	Splenomegaly, Decreased circulating apolipoprotein C-II concentration, Hepatomegaly, Hypercholest...	OMIM:207750
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc...	OMIM:202700
Amed Syndrome, Digenic	Acute myeloid leukemia, Leukopenia, Anemia, Myelodysplasia, Bone marrow hypocellularity, Thromboc...	OMIM:619151
Low Phospholipid-Associated Cholelithiasis	Cholelithiasis, Biliary cirrhosis, Liver abscess, Neoplasm of the liver, Sclerosing cholangitis, ...	ORPHA:69663
Bone Marrow Failure And Diabetes Mellitus Syndrome	T-cell acute lymphoblastic leukemias, Type I diabetes mellitus, Pancytopenia, Increased mean corp...	OMIM:620044
Hair Defect With Photosensitivity And Mental Retardation	Sparse eyebrow, Brittle hair, Coarse hair, Sparse eyelashes, Sparse hair	OMIM:234030
Hemophagocytic Lymphohistiocytosis, Familial, 4	Anemia, Neutropenia, Jaundice, Increased circulating ferritin concentration, Hemophagocytosis, He...	OMIM:603552
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Hypercholesterolemia	OMIM:607250
Histiocytosis, Progressive Mucinous	Mucinous histiocytosis	OMIM:142630
Hepatic Lipase Deficiency	Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia	OMIM:614025
Hypotrichosis 8	Dry hair, Sparse eyebrow, Sparse scalp hair, Fair hair, Sparse axillary hair, Nail pits, Woolly h...	OMIM:278150
Citrullinemia, Type Ii, Neonatal-Onset	Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Elevated circulating alanine aminotransfer...	OMIM:605814
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Alopecia, Nail dystrophy	OMIM:616487
Pili Torti	Alopecia, Abnormal eyebrow morphology, Pili torti, Brittle hair, Abnormality of the nail, Abnorma...	ORPHA:2889
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Leukopenia, Acute myeloid leukemia, Abnormality of neutrophil morphology, Myelodysplasia, Erythro...	ORPHA:86841
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears	Sparse hair, Woolly hair	OMIM:278200
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Alopecia, Ridged nail, Nail dystrophy, Nail pits	OMIM:601705
Growth Hormone Insensitivity Syndrome	Diabetes insipidus, Hypogonadism, Type II diabetes mellitus, Diabetes mellitus, Hypercholesterolemia	ORPHA:181393
Erythrokeratodermia Variabilis Et Progressiva 2	Hypertrichosis	OMIM:617524
Chromosome 14Q32 Duplication Syndrome, 700-Kb	Acute myeloid leukemia, Chronic myelomonocytic leukemia	OMIM:616604
Uncombable Hair Syndrome 1	Dry hair, Pili canaliculi, Uncombable hair	OMIM:191480
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL choles...	OMIM:620058
Proteus-Like Syndrome	Hemangioma, Polycystic ovaries, Abnormality of the parathyroid gland, Thymus hyperplasia, Exostos...	ORPHA:2969
Acquired Idiopathic Sideroblastic Anemia	Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Myelodysplasia, Normocy...	ORPHA:75564
Hypotrichosis 7	Sparse body hair, Sparse eyebrow, Sparse scalp hair, Brittle hair, Sparse axillary hair, Abnormal...	OMIM:604379
Immunodeficiency 21	Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, My...	OMIM:614172
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Neutropenia, Acute lymphoblastic leukemia, Myelodysplasia	OMIM:610738
Wt Limb-Blood Syndrome	Pancytopenia, Cryptorchidism, Thrombocytopenia, Leukemia, Hypoplastic anemia	OMIM:194350
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hepatitis, Cholesterol gallstones, Hepatic steatosis, Increased LDL cholesterol concentration, Ch...	ORPHA:209902
Hypotrichosis 5	Alopecia, Thin eyebrow, Abnormality of the nail, Abnormal sweat gland morphology, Absent pubic ha...	OMIM:612841
Sabinas Brittle Hair Syndrome	Dry hair, Brittle hair, Nail dysplasia, Sparse hair, Nail dystrophy	OMIM:211390
Woolly Hair	Sparse body hair, Sparse lateral eyebrow, Brittle hair, Fine hair, Woolly hair, Hypopigmentation ...	ORPHA:170
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel...	ORPHA:521
Leukemia, Chronic Lymphocytic, Susceptibility To, 2	Chronic lymphatic leukemia	OMIM:109543
Leukemia, Chronic Lymphocytic	Chronic lymphatic leukemia	OMIM:151400
Analbuminemia	Increased LDL cholesterol concentration, Hypoalbuminemia, Elevated circulating transferrin concen...	OMIM:616000
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Lymphoma, Acute myeloid leukemia, Abnormal alpha granule content, Myelodysplasia, Abnormal dense ...	OMIM:601399
Hypercholesterolemia, Familial, 3	Hypercholesterolemia, Abnormal LDL cholesterol concentration, Xanthelasma	OMIM:603776
Sea-Blue Histiocyte Disease	Elevated circulating alanine aminotransferase concentration, Cirrhosis, Sea-blue histiocytosis, E...	OMIM:269600
Distal Myopathy, Tateyama Type	Abnormal circulating creatine kinase concentration, Hypercholesterolemia	ORPHA:488650
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia	OMIM:616873
Woolly Hair, Autosomal Dominant	Dry hair, Abnormal eyebrow morphology, Woolly hair, Abnormal eyelash morphology, Coarse hair, Slo...	OMIM:194300
Primary Erythromelalgia	Leukemia	ORPHA:90026
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Fine hair, Abnormality of the nail, Abnormal eyelash m...	ORPHA:573
Palmoplantar Keratoderma And Woolly Hair	Sparse body hair, Sparse eyebrow, Sparse scalp hair, Leukonychia, Woolly hair, Sparse eyelashes	OMIM:616099
Crandall Syndrome	Sparse body hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Pili torti, Brittle hair, Fine hair	ORPHA:202
Hypotrichosis 13	Abnormal sweat gland morphology, Sparse eyelashes, Sparse hair, Woolly hair	OMIM:615896
Benign Cephalic Histiocytosis	Histiocytosis	ORPHA:157997
Hypotrichosis 14	Sparse body hair, Sparse pubic hair, Short eyelashes, Sparse hair, Absent axillary hair	OMIM:618275
Leukemia, Chronic Myeloid	Chronic myelogenous leukemia, Ph-positive acute lymphoblastic leukemia	OMIM:608232
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Hypercholesterolemia	ORPHA:94124
Hypercholesterolemia, Familial, 2	Hypercholesterolemia, Increased LDL cholesterol concentration, Xanthelasma	OMIM:144010
Familial Hyperaldosteronism Type Ii	Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Adrenal hyperplasia, Abnormal...	ORPHA:404
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Abnormal macrophage morphology, Pancytopenia, Abnormality of neutr...	ORPHA:2585
Tumor Predisposition Syndrome 2	Acute myeloid leukemia, Ductal carcinoma in situ, Juvenile type ovarian granulosa cell tumor, Sch...	OMIM:619975
Hyperlipoproteinemia, Type I	Jaundice, Pancreatitis, Lactescent serum, Hepatosplenomegaly, Hyperlipidemia, Hypercholesterolemi...	OMIM:238600
Hereditary Progressive Mucinous Histiocytosis	Mucinous histiocytosis	ORPHA:158025
Lymphoproliferative Syndrome, X-Linked, 2	Hepatitis, Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Hepatome...	OMIM:300635
Mismatch Repair Cancer Syndrome 1	Lymphoma, Medulloblastoma, Astrocytoma, Adenocarcinoma of the small intestine, Adenocarcinoma of ...	OMIM:276300
Autoimmune Polyendocrinopathy Type 1	Decreased circulating aldosterone level, Increased circulating cortisol level, Adrenal hyperplasi...	ORPHA:3453
Dohle Bodies And Leukemia	Leukocyte inclusion bodies, Acute myeloid leukemia, Anemia	OMIM:223350
Björnstad Syndrome	Alopecia, Brittle hair	ORPHA:123
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Adrenogenital syndrome, Adrenal hyperplasia	OMIM:201910
Familial Hyperaldosteronism Type I	Hypokalemia, Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, D...	ORPHA:403
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:616435
Pseudopelade Of Brocq	Alopecia, Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow, Abnormality of the nail, Abnormal...	ORPHA:129
Fanconi Anemia, Complementation Group D1	Acute myeloid leukemia, Bone marrow hypocellularity, T-cell acute lymphoblastic leukemias	OMIM:605724
Hypotrichosis 6	Sparse eyebrow, Pili torti, Brittle hair, Sparse eyelashes, Sparse hair	OMIM:607903
Ectodermal Dysplasia 7, Hair/Nail Type	Alopecia, Sparse eyebrow, Sparse scalp hair, Dystrophic toenail, Brittle hair, Onycholysis, Abnor...	OMIM:614929
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Hepatosplenomegaly, Increased circulating ferritin concentration, Hemophagocytosis, Throm...	OMIM:613101
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Adrenogenital syndrome, Adrenal hyperplasia	OMIM:202110
Trichodental Dysplasia	Slow-growing hair, Sparse hair, Fine hair, Brittle hair	OMIM:601453
Galactokinase Deficiency	Hyperinsulinemia, Hypergalactosemia, Increased level of galactitol in plasma, Hepatosplenomegaly,...	ORPHA:79237
Systemic Mastocytosis With Associated Hematologic Neoplasm	Lymphoma, Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic l...	ORPHA:98849
Immunodeficiency 42	Hypoplasia of the thymus, Splenomegaly	OMIM:616622
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Myelodysplasia, Acute lymphoblastic leukemia, Lymphopenia, Hemangioma, Eo...	ORPHA:486
Cog4-Cdg	Cirrhosis, Elevated hepatic transaminase, Hepatosplenomegaly, Hypercholesterolemia, Fatal liver f...	ORPHA:263501
Storage Pool Platelet Disease	Decreased mean platelet volume, Myelodysplasia, Acute leukemia	OMIM:185050
Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy	Anterior cervical hypertrichosis	OMIM:239840
Deafness-Lymphedema-Leukemia Syndrome	Lymphadenopathy, Abnormal neutrophil count, Bone marrow hypocellularity, Leukocytosis, Myeloproli...	ORPHA:3226
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Hypoplastic a...	OMIM:159550
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1	Anemia, Myeloid leukemia, Myelodysplasia, Pancytopenia, Bone marrow hypocellularity, Mediastinal ...	OMIM:614742
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency	Hepatic fibrosis, Cirrhosis, Hepatocellular adenoma, Elevated hepatic transaminase, Hepatocellula...	ORPHA:370
Sitosterolemia 1	Reduced haptoglobin level, Hypercholesterolemia, Stomatocytosis, Anemia, Giant platelets, Reticul...	OMIM:210250
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Precocious puberty, Maturity-onset diabetes of the young, Hypercholesterolemia	ORPHA:254531
Griscelli Syndrome Type 2	Jaundice, Pancytopenia, Hemophagocytosis, Hyperlipidemia, Hepatomegaly, Neutropenia, Splenomegaly	ORPHA:79477
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Dysbetalipoproteinemia	Hypercholesterolemia, Hypothyroidism, Hepatic steatosis, Diabetes mellitus, Increased LDL cholest...	ORPHA:412
Citrullinemia Type Ii	Hepatic fibrosis, Hepatocellular carcinoma, Acute hyperammonemia, Elevated hepatic transaminase, ...	ORPHA:247585
Hyperaldosteronism, Familial, Type Iii	Decreased circulating renin level, Hypokalemia, Hyperaldosteronism, Adrenal hyperplasia	OMIM:613677
Hypotrichosis-Intellectual Disability, Lopes Type	Sparse hair	ORPHA:2266
Syndromic Recessive X-Linked Ichthyosis	Testicular seminoma, Acute leukemia, Hypogonadism, Cryptorchidism	ORPHA:281090
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Elevated hepatic tra...	ORPHA:247598
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Nephroblastoma, Meningioma, Leukemia	OMIM:602501
Aggressive Systemic Mastocytosis	Anemia, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of...	ORPHA:98850
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Anemia, Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Hypertrigly...	OMIM:618398
Acth-Independent Macronodular Adrenal Hyperplasia	Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT...	OMIM:219080
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia	OMIM:619036
Morgagni-Stewart-Morel Syndrome	Hypothyroidism, Hyperuricemia, Diabetes mellitus, Abnormality of the thyroid gland, Hypercholeste...	ORPHA:77296
Congenital Generalized Lipodystrophy	Precocious puberty in females, Increased C-peptide level, Cirrhosis, Hyperinsulinemia, Hepatic st...	ORPHA:528
Pigmented Nodular Adrenocortical Disease, Primary, 4	Primary hypercortisolism, Adrenal hyperplasia, Diabetes mellitus, Increased circulating cortisol ...	OMIM:615830
Macrophage Activation Syndrome	Abnormal natural killer cell count, Elevated circulating alanine aminotransferase concentration, ...	ORPHA:158061
Acute Monoblastic/Monocytic Leukemia	Central hypothyroidism, Anemia, Lymphocytosis, Hypochromic anemia, Acute monocytic leukemia, Leuk...	ORPHA:514
Myelocytic Leukemia-Like Syndrome, Familial, Chronic	Chronic myelogenous leukemia	OMIM:600080
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Acute myelomonocytic leukemia, Lymphocytosis, Pancytopenia, Bone marrow h...	ORPHA:86843
Bjornstad Syndrome	Alopecia, Dry hair, Pili torti, Brittle hair, Coarse hair, Hair shafts flattened at irregular int...	OMIM:262000
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatic fibrosis, Cirrhosis, Anemia, Hepatocellular adenoma, Elevated hepatic transaminase, Abnor...	ORPHA:264580
Familial Hyperaldosteronism Type Iii	Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Adrenal hyperplasia, Abnormal...	ORPHA:251274
Immunodeficiency 36 With Lymphoproliferation	Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Enla...	OMIM:616005
Laron Syndrome	Delayed puberty, Abnormality of the endocrine system, Hypercholesterolemia	ORPHA:633
Pili Torti, Early-Onset	Dry hair, Pili torti, Brittle hair, Coarse hair, Hair shafts flattened at irregular intervals and...	OMIM:261900
Acth-Independent Macronodular Adrenal Hyperplasia 2	Macronodular adrenal hyperplasia, Decreased circulating ACTH level, Increased urinary cortisol le...	OMIM:615954
Temple Syndrome	Hypercholesterolemia, Precocious puberty, Decreased testicular size, Maturity-onset diabetes of t...	OMIM:616222
Agammaglobulinemia 8B, Autosomal Recessive	Anemia, B lymphocytopenia, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Pancyt...	OMIM:619824
Acute Promyelocytic Leukemia	Acute promyelocytic leukemia	OMIM:612376
Primary Pigmented Nodular Adrenocortical Disease	Increased circulating cortisol level, Type II diabetes mellitus, Decreased circulating ACTH level...	ORPHA:189439
Immunodeficiency 47	Leukopenia, Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Cirrho...	OMIM:300972
Essential Thrombocythemia	Abnormal platelet morphology, Myelodysplasia, Splenomegaly, Acute leukemia	ORPHA:3318
Hypergonadotropic Hypogonadism And Partial Alopecia	Alopecia	OMIM:241090
Thymoma	Neoplasm of the gastrointestinal tract, Leukemia, Neoplasm of head and neck, Imbalanced hemoglobi...	ORPHA:99867
Ataxia-Oculomotor Apraxia 4	Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia	OMIM:616267
Abdominal Obesity-Metabolic Syndrome 3	Type II diabetes mellitus, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hyperch...	OMIM:615812
Lig4 Syndrome	Lymphoma, Hypothyroidism, Type II diabetes mellitus, Pancytopenia, Lymphadenopathy, Leukocytosis,...	ORPHA:99812
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin...	ORPHA:90793
Griscelli Syndrome, Type 2	Hemophagocytosis, Hepatosplenomegaly	OMIM:607624
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatic fibrosis, Cirrhosis, Anemia, Hepatocellular adenoma, Elevated hepatic transaminase, Hepat...	ORPHA:79240
Bile Acid Synthesis Defect, Congenital, 1	Hepatic failure, Cirrhosis, Jaundice, Elevated hepatic transaminase, Acholic stools, Steatorrhea,...	OMIM:607765
Immunodeficiency 97 With Autoinflammation	Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ...	OMIM:619802
Lysosomal Acid Lipase Deficiency	Hepatic fibrosis, Hepatic failure, Microvesicular hepatic steatosis, Decreased liver function, An...	ORPHA:275761
African Iron Overload	Abnormal thyroid morphology, Hepatic fibrosis, Increased circulating cortisol level, Abnormality ...	ORPHA:139507
Turcot Syndrome With Polyposis	Neoplasm of the central nervous system, Ependymoma, Hepatoblastoma, Soft tissue neoplasm, Glioma,...	ORPHA:99818
Hemophagocytic Lymphohistiocytosis, Familial, 1	Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Jaundice...	OMIM:267700
Autoinflammatory-Pancytopenia Syndrome	Hepatic fibrosis, Granuloma, Type I diabetes mellitus, Pancytopenia, Hepatosplenomegaly, Hemophag...	OMIM:619858
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia	Hyperaldosteronism, Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decre...	ORPHA:189427
Idiopathic Steroid-Resistant Nephrotic Syndrome	Abnormal circulating lipid concentration, Hypercholesterolemia, Peritonitis, Hypertriglyceridemia...	ORPHA:567548
Primary Unilateral Adrenal Hyperplasia	Decreased circulating renin level, Hypokalemia, Glucocortocoid-insensitive primary hyperaldostero...	ORPHA:231580
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Macroorchidism, Jaundice, Decreased circulating cortisol level, Hyperkalemia, Increased circulati...	ORPHA:90790
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Single lineage myelodysplasia, Abnormal mean corpuscular volume, Multiple...	ORPHA:86839
Hypobetalipoproteinemia, Familial, 1	Elevated circulating alanine aminotransferase concentration, Decreased LDL cholesterol concentrat...	OMIM:615558
Leishmaniasis	Leukopenia, Anemia, Abnormal macrophage morphology, Elevated hepatic transaminase, Pancytopenia, ...	ORPHA:507
Hypotrichosis And Recurrent Skin Vesicles	Sparse body hair, Sparse eyebrow, Sparse scalp hair, Leukonychia, Sparse axillary hair, Sparse ey...	OMIM:613102
Chilblain Lupus	Chronic myelomonocytic leukemia	ORPHA:90280
Retinoblastoma	Lymphoma, Retinoblastoma, Pinealoma, Ewing sarcoma, Osteosarcoma, Leukemia	OMIM:180200
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Elevated circulating creatine kinase concentration, Hypoalbuminemia, Hypercholesterolemia	OMIM:208920
Lymphoproliferative Syndrome, X-Linked, 1	Hepatic failure, Fulminant hepatitis, Lymphocytosis, Pancytopenia, Thrombocytopenia, Hemophagocyt...	OMIM:308240
Ataxia-Telangiectasia	Female hypogonadism, Lymphoma, Hypoplasia of the thymus, T lymphocytopenia, Acute lymphoblastic l...	OMIM:208900
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Hyperaldosteronism, Hypokalemia, Adrenal hyperplasia, Abnormal circulating renin, Dexamethasone-s...	ORPHA:369929
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Splenomegaly, Lymphoproliferative disorder, Chronic lymphatic leukemia	ORPHA:90033
Isolated Thyroid-Stimulating Hormone Deficiency	Macroorchidism, Increased circulating prolactin concentration, Increased pituitary glycoprotein h...	ORPHA:90674
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Precocious puberty, Cryptorchidism, Maturity-onset diabetes of the young, Hypercholesterolemia	ORPHA:96184
Smith-Magenis Syndrome	Hypertriglyceridemia, Abnormality of the thyroid gland, Hypercholesterolemia	OMIM:182290
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Elevated circulating...	ORPHA:90791
Proteus Syndrome	Diabetes insipidus, Macroorchidism, Neoplasm of the thymus, Enlarged polycystic ovaries, Neoplasm...	ORPHA:744
9Q31.1Q31.3 Microdeletion Syndrome	Type II diabetes mellitus, Hypercholesterolemia	ORPHA:401923
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Elevated circulating creatine kinase concentration, Hypoalbuminemia, Elevated circulating alpha-f...	ORPHA:64753
Ataxia With Vitamin E Deficiency	Increased LDL cholesterol concentration, Hypertriglyceridemia, Xanthelasma, Hypercholesterolemia	OMIM:277460
Maternal Uniparental Disomy Of Chromosome 6	Thrombocytopenia, Increased serum testosterone level, Hydrocele testis, Congenital adrenal hyperp...	ORPHA:96181
Congenital Analbuminemia	Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia	ORPHA:86816
Zinc Deficiency, Transient Neonatal	Alopecia	OMIM:608118
Nasu-Hakola Disease	Acute leukemia	ORPHA:2770
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypothyroidism, Hypopituitarism, Leukocytosis, Hypercholesterolemia	ORPHA:90065
Lysinuric Protein Intolerance	Elevated hepatic transaminase, Hepatosplenomegaly, Hepatomegaly, Hypercholesterolemia, Thrombocyt...	ORPHA:470
Lipodystrophy, Familial Partial, Type 2	Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Acute pancreatitis, Polycystic ov...	OMIM:151660
Nephrotic Syndrome, Type 11	Hypoalbuminemia, Hypercholesterolemia	OMIM:616730
Multicentric Reticulohistiocytosis	Histiocytosis	ORPHA:139436
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Adrenogenital syndrome, Increased serum testosterone level, Decreased circulating aldosterone lev...	OMIM:202010
Immunodeficiency 27A	Anemia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Histiocytosis, Splenomegaly, Hypoalbumi...	OMIM:209950
Diffuse Cutaneous Mastocytosis	Lymphocytosis, Abnormality of the spleen, Lymphadenopathy, Myeloproliferative disorder	ORPHA:79456
Hemophagocytic Lymphohistiocytosis, Familial, 2	Increased total bilirubin, Leukopenia, Anemia, Jaundice, Elevated hepatic transaminase, Pancytope...	OMIM:603553
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the thymus, T lymphocyt...	OMIM:300400
Familial Hemophagocytic Lymphohistiocytosis	Anemia, Neutropenia, Jaundice, Elevated hepatic transaminase, Increased circulating ferritin conc...	ORPHA:540
Shwachman-Diamond Syndrome	Pancreatic hypoplasia, Acute myeloid leukemia, Chronic neutropenia, Leukopenia, Decreased respons...	ORPHA:811
Trichotillomania	Alopecia	OMIM:613229
Hemophagocytic Syndrome Associated With An Infection	Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Neutropenia, Ele...	ORPHA:158048
Pyoderma Gangrenosum	Myeloid leukemia, Myelodysplasia	ORPHA:48104
Familial Thrombocytosis	Acute myeloid leukemia, Myelodysplasia, Thrombocytosis, Splenomegaly, Chronic myelogenous leukemia	ORPHA:71493
Mastocytosis	Sarcoma, Mastocytosis, Acute leukemia, Splenomegaly, Chronic leukemia	ORPHA:98292
Mandibuloacral Dysplasia	Hyperinsulinemia, Increased circulating free fatty acid level, Insulin-resistant diabetes mellitu...	ORPHA:2457
Gaisböck Syndrome	Increased mean corpuscular hemoglobin concentration, Hyperuricemia, Increased red blood cell coun...	ORPHA:90041
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C...	OMIM:617241
Generalized Glucocorticoid Resistance Syndrome	Precocious puberty, Decreased circulating aldosterone level, Increased circulating cortisol level...	ORPHA:786
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Chronic neutropenia, Anemia, Hyperuricemia, Hypothyroidism, Hepatocellular adenoma, Thyroiditis, ...	ORPHA:79259
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Elevated hepatic transaminase, Hepatosplenomegaly, Hemophagocytosis, Elevated circu...	OMIM:619644
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Leukemia, Myelodysplasia, Supernumerary nipple, Cryptorchidism	OMIM:619951
Fanconi Anemia, Complementation Group E	Anemia, Reticulocytopenia, Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Thromboc...	OMIM:600901
Noonan Syndrome 6	Juvenile myelomonocytic leukemia, Cryptorchidism	OMIM:613224
Congenital Enterovirus Infection	Leukopenia, Hepatic failure, Anemia, Abnormal macrophage morphology, Hepatitis, Hyperammonemia, C...	ORPHA:292
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Decreased testicular size, Hypertriglyceridemia, Hypercholesterolemia	OMIM:610644
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia...	OMIM:619313
Smith-Magenis Syndrome	Hypothyroidism, Precocious puberty, Delayed puberty, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:819
Waldenström Macroglobulinemia	Lymphoma, Leukemia, Normocytic anemia, Abnormality of neutrophils, Lymphadenopathy, Monoclonal im...	ORPHA:33226
Fanconi Anemia, Complementation Group A	Anemia, Reticulocytopenia, Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Thromboc...	OMIM:227650
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Elevated circulating 17-hydroxyprogesterone concentration, Adrenal insufficiency, Impaired cortis...	OMIM:201810
Fanconi Anemia, Complementation Group C	Anemia, Reticulocytopenia, Pancytopenia, Hypergonadotropic hypogonadism, Bone marrow hypocellular...	OMIM:227645
Cahmr Syndrome	Generalized hypertrichosis	OMIM:211770
Retinoblastoma	Lymphoma, Retinoblastoma, Leiomyosarcoma, Melanoma, Ewing sarcoma, Pineoblastoma, Osteosarcoma, G...	ORPHA:790
Immunodeficiency 98 With Autoinflammation, X-Linked	B lymphocytopenia, Type I diabetes mellitus, Autoimmune hemolytic anemia, Hemophagocytosis, Hepat...	OMIM:301078
Rothmund-Thomson Syndrome Type 1	Hypothyroidism, Anemia, Hypogonadism, Myelodysplasia, Squamous cell carcinoma, Melanoma, Basal ce...	ORPHA:221008
Tatton-Brown-Rahman Syndrome	Myeloid leukemia, Neuroendocrine neoplasm, Cryptorchidism	ORPHA:404443
Bloom Syndrome	Nephroblastoma, Acute myeloid leukemia, Lymphoma, Stomach cancer, Myelodysplasia, Abnormal propor...	ORPHA:125
Sweet Syndrome	Acute myeloid leukemia, Anemia, Breast carcinoma, Sterile abscess, Chronic lymphatic leukemia, Ne...	ORPHA:3243
Galloway-Mowat Syndrome 7	Hypercholesterolemia	OMIM:618348
Niemann-Pick Disease, Type A	Elevated circulating alanine aminotransferase concentration, Sea-blue histiocytosis, Elevated cir...	OMIM:257200
Megalocornea-Mental Retardation Syndrome	Primary hypothyroidism, Hypercholesterolemia	OMIM:249310
Bardet-Biedl Syndrome 20	Bilateral cryptorchidism, Elevated hepatic transaminase, Male hypogonadism, Hypercholesterolemia,...	OMIM:619471
Porphyria Due To Ala Dehydratase Deficiency	Abnormal erythrocyte enzyme level, Myeloproliferative disorder	ORPHA:100924
Wiskott-Aldrich Syndrome	Lymphoma, Anemia, Hypoplasia of the thymus, Hemolytic anemia, Abnormal eosinophil morphology, Lym...	ORPHA:906
Omenn Syndrome	Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Lymphadenopathy, E...	OMIM:603554
Neurofibromatosis Type 1	Spinal neurofibromas, Multiple lipomas, Precocious puberty, Astrocytoma, Neoplasm of the gastroin...	ORPHA:636
Megalocornea-Intellectual Disability Syndrome	Hypothyroidism, Hypercholesterolemia	ORPHA:2479
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally low T cell receptor excis...	OMIM:602450
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly, Hepatomegaly	ORPHA:158029
Rothmund-Thomson Syndrome Type 2	Lymphoma, Anemia, Myelodysplasia, Squamous cell carcinoma, Melanoma, Basal cell carcinoma, Neopla...	ORPHA:221016
X-Linked Lymphoproliferative Disease	T lymphocytopenia, Elevated hepatic transaminase, Hepatosplenomegaly, Increased T cell count, Dec...	ORPHA:2442
T-Cell Immunodeficiency With Thymic Aplasia	T lymphocytopenia, Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplen...	OMIM:242700
Down Syndrome	Acute megakaryocytic leukemia, Hypothyroidism, Abnormality of the lymphatic system, Type II diabe...	ORPHA:870
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Aplasia of the thymus	ORPHA:3004
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Bone marrow hypocellularity, Cryptorchidism, Aplastic anemia	OMIM:617052
Tubulointerstitial Nephritis With Uveitis	Elevated circulating creatinine concentration, Non-caseating epithelioid cell granulomatosis	OMIM:607665
Lymphoproliferative Syndrome 2	Pancytopenia, Hepatosplenomegaly, Hemophagocytosis, Hepatomegaly, Aplastic anemia, Splenomegaly	OMIM:615122
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Abnormal macrophage morphology, Elevated circulating creatine kinase concentration	ORPHA:353
Mandibuloacral Dysplasia With Type A Lipodystrophy	Hypercholesterolemia, Hyperinsulinemia, Calcinosis, Hepatomegaly, Hyperlipidemia, Insulin-resista...	OMIM:248370
Fanconi Anemia, Complementation Group D2	Anemia, Reticulocytopenia, Pancytopenia, Hypergonadotropic hypogonadism, Bone marrow hypocellular...	OMIM:227646
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Abnormal response to human chorionic gonadotrophin stimulation test, Decreased circulating dehydr...	ORPHA:95699
Polycythemia Vera	Acute leukemia, Splenomegaly, Myelodysplasia	ORPHA:729
Lmna-Related Cardiocutaneous Progeria Syndrome	Pulmonary carcinoid tumor, Hypertriglyceridemia, Abnormal intrahepatic bile duct morphology, Hype...	ORPHA:363618
Bloom Syndrome	Lymphoma, Type II diabetes mellitus, Squamous cell carcinoma, Elevated hemoglobin A1c, Cryptorchi...	OMIM:210900
Mosaic Variegated Aneuploidy Syndrome 1	Nephroblastoma, Embryonal rhabdomyosarcoma, Leukemia, Cryptorchidism	OMIM:257300
Rothmund-Thomson Syndrome	Anemia, Myelodysplasia, Squamous cell carcinoma, Melanoma, Basal cell carcinoma, Neoplasm of the ...	ORPHA:2909
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Anemia, Myelodysplasia, Pancytopenia, Persistence of hemoglobin F, Thromb...	OMIM:260400
Legius Syndrome	Nephroblastoma, Multiple lipomas, Neoplasm of the central nervous system, Neurofibromas, Acute mo...	ORPHA:137605
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Adrenal gland agenesis	OMIM:611812
Cushing Disease	Pituitary corticotropic cell adenoma, Increased circulating cortisol level, Increased circulating...	ORPHA:96253
Primary Sclerosing Cholangitis	Cholangiocarcinoma, Elevated hepatic transaminase, Hepatocellular carcinoma, Hepatosplenomegaly, ...	ORPHA:171
Alagille Syndrome 1	Cirrhosis, Hepatic failure, Elevated hepatic transaminase, Hepatocellular carcinoma, Reduced numb...	OMIM:118450
Nijmegen Breakage Syndrome	Lymphoma, Hemolytic anemia, Glioma, Rhabdomyosarcoma, Autoimmune hemolytic anemia, Neoplasm, Thro...	ORPHA:647
Chédiak-Higashi Syndrome	Anemia, Neutropenia, Jaundice, Elevated hepatic transaminase, Pancytopenia, Hepatosplenomegaly, H...	ORPHA:167
Congenital Factor Xiii Deficiency	Myeloid leukemia	ORPHA:331
Idiopathic Hypereosinophilic Syndrome	Anemia, Myelodysplasia, Neutrophilia, Generalized lymphadenopathy, Hepatosplenomegaly, Cervical l...	ORPHA:3260
Mosaic Variegated Aneuploidy Syndrome	Nephroblastoma, Hypothyroidism, Stomach cancer, Myelodysplasia, Vaginal neoplasm, Acute lymphobla...	ORPHA:1052
17Q11 Microdeletion Syndrome	Precocious puberty, Myelodysplasia, Plexiform neurofibroma, Multiple mucosal neuromas, Glioma, Op...	ORPHA:97685
Cushing Syndrome Due To Ectopic Acth Secretion	Abnormal lymph node morphology, Pituitary corticotropic cell adenoma, Decreased eosinophil count,...	ORPHA:99889
Blackfan-Diamond Anemia	Acute myeloid leukemia, Leukopenia, Osteosarcoma, Adenocarcinoma of the colon, Reticulocytopenia,...	ORPHA:124
Noonan Syndrome 2	Leukemia, Cryptorchidism	OMIM:605275
Dubowitz Syndrome	Lymphoma, Anemia, Acute lymphoblastic leukemia, Abnormality of neutrophils, Neoplasm, Hypoparathy...	ORPHA:235
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Leukopenia, Anemia, Myelodysplasia, Decreased testicular size, Oropharyng...	OMIM:305000
Chediak-Higashi Syndrome	Leukopenia, Anemia, Jaundice, Giant neutrophil granules, Hemophagocytosis, Hepatomegaly, Impaired...	OMIM:214500
Autoimmune Polyendocrinopathy Type 3	Thymoma, Leukopenia, Biliary cirrhosis, Autoimmune hypoparathyroidism, Non-caseating epithelioid ...	ORPHA:227982
Simple Cryoglobulinemia	Multiple myeloma, Monoclonal immunoglobulin M proteinemia, Chronic lymphatic leukemia, B-cell lym...	ORPHA:91139
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Hypoplasia of the thymus, Lymphopenia, Impaired lymphocyte transformation with phytohemagglutinin...	OMIM:243150
Autoimmune Polyendocrinopathy Type 4	Thymoma, Leukopenia, Biliary cirrhosis, Non-caseating epithelioid cell granulomatosis, Hepatitis,...	ORPHA:227990
Niemann-Pick Disease, Type C1	Sea-blue histiocytosis, Bone-marrow foam cells, Hepatomegaly, Fatal liver failure in infancy, Pro...	OMIM:257220
Juvenile Xanthogranuloma	Myeloproliferative disorder	ORPHA:158000
Immunodeficiency 9	Hypoplasia of the thymus	OMIM:612782
H Syndrome	Hypertriglyceridemia, Hypogonadism, Decreased testicular size, Hepatosplenomegaly, Diabetes melli...	ORPHA:168569
Dubowitz Syndrome	Lymphoma, Acute lymphoblastic leukemia, Cryptorchidism, Aplastic anemia, Neuroblastoma	OMIM:223370
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Cryptorchidism, Juvenile myelomonocytic leukemia, Splenomegaly, Hepatosplenomegaly	OMIM:613563
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Hypoplastic nipples, Acute lymphoblastic leukemia	OMIM:280000
Graft Versus Host Disease	Hyperbilirubinemia, Jaundice, Elevated hepatic transaminase, Hepatosplenomegaly, Hemophagocytosis...	ORPHA:39812
Niemann-Pick Disease, Type C2	Sea-blue histiocytosis, Jaundice, Bone-marrow foam cells, Hepatomegaly, Prolonged neonatal jaundi...	OMIM:607625
Biliary, Renal, Neurologic, And Skeletal Syndrome	Biliary cirrhosis, Hepatomegaly, Hypercholesterolemia, Splenomegaly, Conjugated hyperbilirubinemi...	OMIM:619534
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Hemophagocytosis, Hepatosplenomegaly	ORPHA:86884
Steinert Myotonic Dystrophy	Hyperinsulinemia, Decreased response to growth hormone stimulation test, Abnormality of thyroid p...	ORPHA:273
Cryptococcosis	Mediastinal lymphadenopathy, Neoplasm, Lymphoid leukemia	ORPHA:1546
Schinzel-Giedion Syndrome	Central hypothyroidism, Nephroblastoma, Myeloid leukemia, Ependymoma, Hepatoblastoma, Teratoma, A...	ORPHA:798
Rubinstein-Taybi Syndrome 1	Premature thelarche, Bilateral cryptorchidism, Capillary hemangioma, Neoplasm, Accessory spleen, ...	OMIM:180849
Ellis Van Creveld Syndrome	Acute leukemia, Cryptorchidism	ORPHA:289
Oculocerebrorenal Syndrome Of Lowe	Hypercholesterolemia, Diabetes insipidus, Hyperaldosteronism, Anemia, Abnormal calcium-phosphate ...	ORPHA:534
Down Syndrome	Acute megakaryocytic leukemia, Hypothyroidism, Myeloproliferative disorder	OMIM:190685
Tetraamelia Syndrome 1	Asplenia, Adrenal gland agenesis	OMIM:273395
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Leukopenia, Anemia, Hypoplasia of the thymus, Perianal abscess, Erythroid hypoplasia, Hepatosplen...	OMIM:612541
Acitretin/Etretinate Embryopathy	Hypoplasia of the thymus	ORPHA:40366
Chronic Visceral Acid Sphingomyelinase Deficiency	Hypersplenism, Neoplasm of the liver, Acute promyelocytic leukemia, Autoimmune thrombocytopenia, ...	ORPHA:77293
Aicardi-Goutières Syndrome	Hypothyroidism, Chronic lymphatic leukemia, Hepatosplenomegaly, Diabetes mellitus, Neonatal alloi...	ORPHA:51
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	B lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Severe B lymphocytopenia, Autoimmune...	OMIM:102700
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Lymphoma, Leukemia	ORPHA:2526
Noonan Syndrome 3	Juvenile myelomonocytic leukemia, Cryptorchidism	OMIM:609942
Acrokeratoelastoidosis Of Costa	Granulomatosis	ORPHA:38
Lysinuric Protein Intolerance	Leukopenia, Anemia, Pancreatitis, Hyperammonemia, Increased circulating ferritin concentration, H...	OMIM:222700
Poland Syndrome	Retinal hamartoma, Diabetes mellitus, Cryptorchidism, Acute leukemia, Neoplasm of the breast	ORPHA:2911
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Liver abscess, Granulomatosis, Rectal abscess, Hepatomegaly, Impaired oxidative burst, Splenomegaly	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Liver abscess, Granulomatosis, Rectal abscess, Hepatomegaly, Impaired oxidative burst, Splenomegaly	OMIM:233710
Peroxisome Biogenesis Disorder 2A (Zellweger)	Hypoplasia of the thymus, Cryptorchidism	OMIM:214110
Gm1-Gangliosidosis, Type Ii	Sea-blue histiocytosis, Splenomegaly, Hepatomegaly	OMIM:230600
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Liver abscess, Granulomatosis, Rectal abscess, Hepatomegaly, Impaired oxidative burst, Splenomegaly	OMIM:233690
Homozygous Familial Hypercholesterolemia	Hepatic steatosis, Increased LDL cholesterol concentration, Hyperlipidemia, Hypercholesterolemia	ORPHA:391665
Thymic Aplasia	Hypothyroidism, T lymphocytopenia, Coombs-positive hemolytic anemia, Thyroiditis, Decreased propo...	ORPHA:83471
Lowe Oculocerebrorenal Syndrome	Elevated maternal serum alpha-fetoprotein, Elevated circulating creatine kinase concentration, El...	OMIM:309000
Chime Syndrome	Acute leukemia	ORPHA:3474
Lipodystrophy, Familial Partial, Type 7	Recurrent pancreatitis, Hypertriglyceridemia, Type I diabetes mellitus, Hypercholesterolemia	OMIM:606721
Monosomy 22	Sarcoma, Gonadal neoplasm, Schwannoma, Hypochromic microcytic anemia, Hepatosplenomegaly, Meningi...	ORPHA:96123
Hydrolethalus Syndrome 1	Adrenal gland dysgenesis, Accessory spleen	OMIM:236680
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Perianal abscess, Impaired neutrophil chemotaxis, Polycythemia, Hyperinsu...	ORPHA:2968
Histiocytosis-Lymphadenopathy Plus Syndrome	Pancreatic hypoplasia, Retroperitoneal fibrosis, Decreased response to growth hormone stimulation...	OMIM:602782
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Decreased response to growth hormone stimulation test, T lymphocytopenia, Abnormal B cell morphol...	OMIM:618223
Combined Immunodeficiency-Enteropathy Spectrum	Peritoneal abscess, Hypoplasia of the thymus, Type I diabetes mellitus, Autoimmune hemolytic anem...	ORPHA:436252
Granulomatous Disease, Chronic, X-Linked	Liver abscess, Granuloma, Granulomatosis, Rectal abscess, Hepatomegaly, Impaired oxidative burst,...	OMIM:306400
Chronic Thromboembolic Pulmonary Hypertension	Neoplasm, Myeloproliferative disorder	ORPHA:70591
Lethal Congenital Contracture Syndrome 10	Hypoplasia of the thymus	OMIM:617022
Listeriosis	Brain abscess, Hepatic granulomatosis, Liver abscess, Jaundice, Abscess, Granulomatosis, Cholecys...	ORPHA:533
Noonan Syndrome 1	Hypogonadism, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Neurofibrosarco...	OMIM:163950
Syndromic Diarrhea	Hypothyroidism, Hypoplasia of the thymus, Increased mean platelet volume, Lymphopenia, Hepatoblas...	ORPHA:84064
Doors Syndrome	Congenital hypothyroidism, Thrombocytosis, Adrenal hyperplasia	ORPHA:79500
Cutis Laxa, Autosomal Recessive, Type Ic	Hypoplasia of the thymus, Accessory spleen, Adrenal hypoplasia	OMIM:613177
Treacher-Collins Syndrome	Hypoplasia of the thymus, Multiple enchondromatosis, Thyroid hypoplasia, Abnormality of the adren...	ORPHA:861
Sotos Syndrome	Hypothyroidism, Astrocytoma, Acute lymphoblastic leukemia, Hydrocele testis, Cholesteatoma, Heman...	ORPHA:821
Eec Syndrome	Anterior hypopituitarism, Lymphoma, Hypoplasia of the thymus, Decreased response to growth hormon...	ORPHA:1896
Granulomatosis With Polyangiitis	Diabetes insipidus, Granulomatosis, Elevated circulating C-reactive protein concentration, Abnorm...	ORPHA:900
Pauci-Immune Glomerulonephritis	Elevated circulating creatinine concentration, Granulomatosis, Pancreatitis	ORPHA:93126
22Q11.2 Deletion Syndrome	Cholelithiasis, Hypothyroidism, Hypoplasia of the thymus, Hyperthyroidism, Hypoparathyroidism, Ab...	ORPHA:567
Digeorge Syndrome	Hypothyroidism, Anemia, Hypoplasia of the thymus, Hydrocele testis, Abnormality of the thymus, Pa...	OMIM:188400
Granulomatosis With Polyangiitis	Granulomatosis	OMIM:608710
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Acute myelomonocytic leukemia, Multiple enchondromatosis, Cavernous hemangioma of the face, Caver...	ORPHA:99646
Truncus Arteriosus	Adrenocortical abnormality, Hypoplasia of the thymus	ORPHA:3384
Wiedemann-Rautenstrauch Syndrome	Hypoplasia of the thymus, Increased serum testosterone level, Cryptorchidism	OMIM:264090

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 Soat1

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 Soat1.

No publications found that use IMPC mice or data for Soat1.

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MGI Allele	Allele Type	Produced
Soat1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

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