Not currently registered for phenotyping at IMPC

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

Gene Summary

sterol O-acyltransferase 1
ACAT-1,  Acact,  8430426K15Rik,  hid

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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.

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 Similarity of
Matching phenotypes Source
Pili Gemini
Abnormal hair laboratory examination, Hair shafts flattened at irregular intervals and twisted th... ORPHA:79492
Discoid Fibromas, Familial Multiple
Abnormal hair morphology OMIM:190340
Tented Eyebrows
Abnormal hair morphology OMIM:611426
Ringed Hair
Abnormal hair morphology OMIM:180600
Hairy Nose Tip
Abnormal hair morphology OMIM:139630
Striate Palmoplantar Keratoderma
Abnormality of the nail, Abnormal hair morphology ORPHA:50942
Occipital Hair, White Lock Of
White hair, Abnormal hair morphology OMIM:310900
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Hypotrichosis 9
Sparse scalp hair, Sparse body hair OMIM:614237
Hypotrichosis 13
Woolly hair, Sparse and thin eyebrow, Sparse hair OMIM:615896
Hypotrichosis 14
Sparse body hair, Sparse hair OMIM:618275
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Hypotrichosis 4
Sparse hair, Sparse and thin eyebrow, Alopecia, Sparse body hair, Pili torti, Sparse eyelashes OMIM:146550
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Hypotrichosis 1
Sparse eyebrow, Sparse hair, Sparse axillary hair, Sparse pubic hair, Sparse body hair, Sparse ey... OMIM:605389
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Alopecia Areata 2
Alopecia of scalp, Alopecia totalis, Patchy alopecia, Alopecia universalis OMIM:610753
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, Elevated hepatic transaminase OMIM:306000
Alopecia Totalis
Alopecia of scalp, Alopecia ORPHA:700
Glycogen Storage Disease Vi
Hypercholesterolemia, Elevated hepatic transaminase, Hyperlipidemia, Hepatomegaly, Hypertriglycer... OMIM:232700
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Pseudopili Annulati
Abnormality of the scalp hair, Abnormality of hair texture OMIM:613241
Hypotrichosis 5
Absent pubic hair, Absent axillary hair, Alopecia, Thin eyebrow, Sparse eyelashes OMIM:612841
Alopecia Universalis Congenita
Alopecia universalis, Alopecia OMIM:203655
Lymphoblastic Leukemia, Acute, With Lymphomatous Features
Acute lymphoblastic leukemia, Lymphoma, T-cell acute lymphoblastic leukemias OMIM:247640
Hypotrichosis Simplex
Sparse hair, Sparse scalp hair, Sparse and thin eyebrow, Alopecia, Sparse body hair, Sparse eyela... ORPHA:55654
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Hypertrichosis Lanuginosa Congenita
Congenital, generalized hypertrichosis, Double eyebrow OMIM:145700
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Alopecia-Mental Retardation Syndrome 1
Alopecia universalis OMIM:203650
Alopecia-Mental Retardation Syndrome 2
Alopecia universalis OMIM:610422
Alopecia-Mental Retardation Syndrome 3
Alopecia universalis OMIM:613930
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Hypotrichosis 11
Sparse hair, Absent axillary hair, Sparse or absent eyelashes, Alopecia, Aplasia/Hypoplasia of th... OMIM:615059
Hypotrichosis 10
Sparse body hair, Sparse eyebrow, Sparse eyelashes OMIM:614238
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... OMIM:153600
Alopecia Universalis
Absent eyelashes, Patchy alopecia, Alopecia universalis, Absent eyebrow ORPHA:701
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Sparse hair OMIM:246500
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Erythroleukemia, Familial, Susceptibility To
Refractory anemia with ringed sideroblasts, Erythroid hyperplasia, Thrombocytopenia, Acute myeloi... OMIM:133180
Glioma Susceptibility 9
Leukemia, Glioma, Astrocytoma OMIM:616568
Isolated Anencephaly
Thymus hyperplasia, Maternal diabetes, Adrenal hypoplasia ORPHA:563609
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Myeloproliferative Disorder, Chronic, With Eosinophilia
Myeloproliferative disorder, Malignant eosinophil proliferation, Eosinophilia OMIM:131440
Alopecia Areata 1
Nail pits, Trachyonychia, Alopecia totalis, Alopecia universalis, Patchy alopecia OMIM:104000
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Hypertrichosis, Congenital Generalized
Congenital, generalized hypertrichosis, Hirsutism OMIM:307150
Hypertrichosis, Anterior Cervical
Anterior cervical hypertrichosis OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type
Congenital, generalized hypertrichosis OMIM:145701
Hypotrichosis 7
Woolly hair, Sparse and thin eyebrow, Sparse hair, Sparse eyelashes OMIM:604379
Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia OMIM:607785
Witkop Syndrome
Nail pits, Small nail, Sparse hair, Ridged nail, Concave nail, Fine hair OMIM:189500
Ectodermal Dysplasia 6, Hair/Nail Type
Dystrophic toenail, Sparse hair, Alopecia, Thin toenail OMIM:614928
Congenital Disorder Of Glycosylation, Type Iip
Hypercholesterolemia, Elevated hepatic transaminase, Hepatic steatosis, Decreased liver function,... OMIM:616829
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia of scalp, Alopecia OMIM:260910
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Graham Little-Piccardi-Lassueur Syndrome
Sparse scalp hair, Sparse pubic hair, Sparse axillary hair, Alopecia ORPHA:505
Li-Fraumeni Syndrome
Prostate cancer, Prostate neoplasm, Soft tissue sarcoma, Lung adenocarcinoma, Nephroblastoma, Ost... OMIM:151623
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia, Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone ... OMIM:301033
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Cirrhosis, Hepatomegaly, Jaundice, Hypertriglyceridemia, Hepatic failure, S... ORPHA:75234
Woolly Hair, Autosomal Recessive 3
Sparse hair, Curly hair, Sparse scalp hair, Trichorrhexis nodosa, Fine hair, Sparse eyelashes OMIM:616760
Uncombable Hair Syndrome 2
Pili canaliculi, Uncombable hair OMIM:617251
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating ACTH level, Congenital adrenal hyperplasia OMIM:613571
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Uncombable Hair Syndrome
Trichodysplasia, Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Woolly hair ORPHA:1410
Myeloproliferative Disease, Autosomal Recessive
Myeloproliferative disorder OMIM:254700
Hyperlipoproteinemia, Type Ii, And Deafness
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:144300
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Trichodysplasia, Alopecia of scalp ORPHA:79129
Li-Fraumeni Syndrome
Non-Hodgkin lymphoma, Ovarian neoplasm, Neoplasm, Colorectal polyposis, Hodgkin lymphoma, Breast ... ORPHA:524
Ectodermal Dysplasia 9, Hair/Nail Type
Atrichia, Sparse hair, Absent eyelashes, Nail dysplasia, Concave nail, Absent hair, Nail dystrophy OMIM:614931
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Diabetes mellitus, Hypertriglyceridemia, Hyperlipidemia OMIM:610947
Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality
Congenital alopecia totalis, Alopecia universalis OMIM:104130
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Hypertriglyceridemia, Granulocytopenia, Anemia, Hepatosplenomegaly OMIM:608898
Lipoid Congenital Adrenal Hyperplasia
Adrenogenital syndrome, Congenital adrenal hyperplasia OMIM:201710
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Vacuolated lymphocytes, Hypersplenism, Leukopenia, Anemia, Bone-marrow foam... OMIM:278000
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Reduced terminal:vellus ratio, Sparse hair, Pili torti OMIM:601553
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Hepatic steatosis, Hypertriglyceridemia, Type II diabetes mellitus, Decreas... OMIM:615703
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Cirrhosis, Intrahepatic cholestasis, Hyperbilirubinemia, Hypermethioninemia... OMIM:605814
Nut Midline Carcinoma
Neuroblastoma, Pancreatic squamous cell carcinoma, Neoplasm, Oropharyngeal squamous cell carcinom... ORPHA:443167
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Niemann-Pick Disease, Type B
Bone-marrow foam cells, Hepatomegaly, Hypertriglyceridemia, Sea-blue histiocytosis, Splenomegaly,... OMIM:607616
Trichodysplasia-Xeroderma Syndrome
Trichodysplasia, Coarse hair, Sparse scalp hair, Sparse and thin eyebrow, Brittle hair, Alopecia,... ORPHA:3361
Cerebellar Ataxia And Ectodermal Dysplasia
Sparse hair, Alopecia OMIM:212835
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Thrombocytopenia, Acute myeloid leukemia, Myelodysplasia, Increased mean corpuscular volume OMIM:252270
Congenital Disorder Of Glycosylation, Type Iio
Hypercholesterolemia, Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Prolonged neonatal ... OMIM:616828
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Sacral hypertrichosis, Thoracic hypertrichosis, Anterior cervical hypertrichosis, Lumbar hypertri... OMIM:117850
Loose Anagen Syndrome
Abnormal hair morphology, Abnormal hair whorl ORPHA:168
Woolly Hair, Autosomal Dominant
Dry hair, Abnormal hair morphology, Coarse hair, Slow-growing hair, Woolly hair OMIM:194300
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Mismatch Repair Cancer Syndrome 2
Glioblastoma multiforme, Colon cancer, T-cell acute lymphoblastic leukemias OMIM:619096
Alopecia-Epilepsy-Oligophrenia Syndrome Of Moynahan
Sparse hair, Alopecia OMIM:203600
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Abnormality of the nail, Abnormal hair morphology, Absent eyebrow, Sparse axillary hair, Sparse s... ORPHA:1808
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Lymphoproliferative disorder, Monocytosis, Hemolytic anemia, Autoimmune thrombocyt... OMIM:614470
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Acute myeloid leukemia, Adenomatous colonic polyposis, Colon cancer OMIM:246470
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
N Syndrome
Neoplasm, Cryptorchidism, Leukemia OMIM:310465
Uncombable Hair Syndrome 3
Pili canaliculi, Curly hair, Uncombable hair OMIM:617252
Marie Unna Hereditary Hypotrichosis
Coarse hair, Sparse scalp hair, Sparse or absent eyelashes, Alopecia, Aplasia/Hypoplasia of the e... ORPHA:444
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Spleno... OMIM:612526
Ectodermal Dysplasia 4, Hair/Nail Type
Onycholysis, Absent eyelashes, Absent eyebrow, Brittle hair, Alopecia, Congenital onychodystrophy... OMIM:602032
Angioma Serpiginosum, X-Linked
Fine hair, Sparse hair, Nail dystrophy OMIM:300652
Parc Syndrome
Alopecia, Absent eyelashes, Absent eyebrow OMIM:600331
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Xanthelasma, Increased VLDL cholesterol concentration, Elevated circulating... OMIM:144250
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Myelodysplasia, Monocytosis, Lymphoma, Acute myeloid leukemia, Leukopenia, Refractory anemia, Bon... OMIM:616871
Epidermolysis Bullosa Simplex, Generalized, With Scarring And Hair Loss
Alopecia of scalp, Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails OMIM:617294
Fanconi Anemia, Complementation Group G
Myelodysplasia, Neutropenia, Thrombocytopenia, Anemia, Leukemia OMIM:614082
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Decreased circulating renin level, Adrenogenital syndrome, Hyperaldosteronism OMIM:103900
Trichodysplasia, Sparse hair, Dry hair, Coarse hair, Sparse axillary hair, Slow-growing hair, Spa... OMIM:190360
Alpha-Thalassemia-Myelodysplastic Syndrome
Myelodysplasia, Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, A... ORPHA:231401
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Myelodysplasia, Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Incr... OMIM:619041
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2
Myeloid leukemia, Pancytopenia, Aplastic anemia, Leukemia, Bone marrow hypocellularity OMIM:614743
Cutaneous Neuroendocrine Carcinoma
Basal cell carcinoma, Multiple myeloma, Neoplasm of the outer ear, Chronic noninfectious lymphade... ORPHA:79140
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased alpha-globulin OMIM:235900
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Sparse hair, Nail dysplasia, Brittle hair, Alopecia, Abnormality of hair texture, Nail dystrophy OMIM:158000
Unclassified Myelodysplastic Syndrome
Myelodysplasia, Leukocytosis, Acute myeloid leukemia, Multiple lineage myelodysplasia, Bone marro... ORPHA:98827
Hypotrichosis 12
Sparse hair, Dry hair, Slow-growing hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the e... OMIM:615885
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Eosinophilia, Splenomegaly OMIM:607685
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hypoalbuminemia, Hyperlipidemia OMIM:615863
Ectodermal Dysplasia 7, Hair/Nail Type
Onycholysis, Sparse hair, Sparse and thin eyebrow, Brittle hair, Alopecia, Dystrophic toenail, Dy... OMIM:614929
Immunodeficiency 21
Myeloid leukemia, Myelodysplasia, Monocytopenia, Abnormal natural killer cell morphology, Lymphop... OMIM:614172
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Congenital agranulocytosis, Leukopenia OMIM:267500
Hair Defect With Photosensitivity And Mental Retardation
Sparse hair, Coarse hair, Sparse and thin eyebrow, Brittle hair, Sparse eyelashes OMIM:234030
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... OMIM:202700
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Increased circulating chylomicron concentration, Hypertriglyceridemia, Hepa... OMIM:207750
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Neutropenia, Hepatomegaly, Hypert... OMIM:603552
Palmoplantar Keratoderma And Woolly Hair
Leukonychia, Sparse scalp hair, Sparse and thin eyebrow, Sparse body hair, Woolly hair, Woolly sc... OMIM:616099
Amed Syndrome, Digenic
Myelodysplasia, Adrenal hypoplasia, Thrombocytopenia, Acute myeloid leukemia, Anemia, Leukopenia,... OMIM:619151
Hypotrichosis 8
Nail pits, Sparse hair, Dry hair, Ridged nail, Coarse hair, Sparse axillary hair, Fair hair, Spar... OMIM:278150
Generalized Eruptive Histiocytosis
Histiocytosis, Leukemia, Hypereosinophilia ORPHA:157991
Histiocytosis, Progressive Mucinous
Mucinous histiocytosis OMIM:142630
Pili Torti
Abnormal eyebrow morphology, Abnormality of the nail, Brittle hair, Alopecia, Abnormality of hair... ORPHA:2889
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Myelodysplasia, Thrombocytosis, Abnormal erythrocyte morphology, Bone marro... ORPHA:86841
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Woolly hair, Sparse hair OMIM:278200
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Nail pits, Ridged nail, Alopecia, Nail dystrophy OMIM:601705
Uncombable Hair Syndrome 1
Pili canaliculi, Uncombable hair, Dry hair OMIM:191480
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Papular Xanthoma
Histiocytosis ORPHA:158008
Erythrokeratodermia Variabilis Et Progressiva 2
Hypertrichosis OMIM:617524
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia, Type II diabetes mellitus, Diabetes insipidus, Hypogonadism, Diabetes mellitus ORPHA:181393
Acquired Idiopathic Sideroblastic Anemia
Myelodysplasia, Hypochromic anemia, Thrombocytosis, Leukocytosis, Refractory anemia with ringed s... ORPHA:75564
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypercholesterolemia, Hepatic steatosis, Macrovesicular hepatic steatosis, Cholesterol gallstones... ORPHA:209902
Sabinas Brittle Hair Syndrome
Sparse hair, Dry hair, Nail dysplasia, Brittle hair, Nail dystrophy OMIM:211390
Sitosterolemia 1
Hypercholesterolemia, Episodic hemolytic anemia, Chronic hemolytic anemia, Stomatocytosis, Reticu... OMIM:210250
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair
Sparse hair OMIM:272980
Woolly Hair
Hypopigmentation of hair, Slow-growing hair, Sparse lateral eyebrow, Brittle hair, Abnormality of... ORPHA:170
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Myelodysplasia, Neutropenia OMIM:610738
Lymphedema, Primary, With Myelodysplasia
Pancytopenia, Myelodysplasia, Leukemia OMIM:614038
Sea-Blue Histiocyte Disease
Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Proteus-Like Syndrome
Hemangioma, Subcutaneous lipoma, Polycystic ovaries, Abnormality of the parathyroid gland, Spleno... ORPHA:2969
Wt Limb-Blood Syndrome
Cryptorchidism, Thrombocytopenia, Hypoplastic anemia, Pancytopenia, Leukemia OMIM:194350
Elevated circulating transferrin concentration, Hypercholesterolemia, Increased LDL cholesterol c... OMIM:616000
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Myelodysplasia, Acute monocytic leukemia, Abnormal alpha granule content, Neuroblastoma, Abnormal... OMIM:601399
Leukemia, Chronic Lymphocytic, Susceptibility To, 2
Chronic lymphatic leukemia OMIM:109543
Leukemia, Chronic Lymphocytic
Chronic lymphatic leukemia OMIM:151400
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis ORPHA:158025
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Onychogryposis, Pedal, With Keratosis Plantaris And Coarse Hair
Coarse hair, Onychogryposis of toenails, Sparse hair, Dry hair OMIM:164680
Abnormal eyebrow morphology, Abnormality of the nail, Sparse hair, Abnormal eyelash morphology, S... ORPHA:573
Crandall Syndrome
Brittle hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse body hair, Fine hair, Pili torti ORPHA:202
Primary Erythromelalgia
Leukemia ORPHA:90026
Hypercholesterolemia, Familial, 3
Abnormal LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma OMIM:603776
Benign Cephalic Histiocytosis
Histiocytosis ORPHA:157997
Immunodeficiency, Common Variable, 13
Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Ataxia With Vitamin 3 Deficiency
Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:277460
Leukemia, Chronic Myeloid
Chronic myelogenous leukemia, Ph-positive acute lymphoblastic leukemia OMIM:608232
Wolman Disease
Bone-marrow foam cells, Steatorrhea, Hepatomegaly, Adrenal insufficiency, Hepatic failure, Spleno... ORPHA:75233
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Increased circulating chylomicron concentration, Jaundice, Pancreatitis, Sp... OMIM:238600
Familial Hyperaldosteronism Type Ii
Secretory adrenocortical adenoma, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal... ORPHA:404
Ataxia-Pancytopenia Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology, Acute myelomonocytic leukemia, Hypopl... ORPHA:2585
Hypercholesterolemia, Familial, 2
Hypercholesterolemia, Increased LDL cholesterol concentration, Xanthelasma OMIM:144010
Björnstad Syndrome
Brittle hair, Alopecia ORPHA:123
Mismatch Repair Cancer Syndrome 1
Non-Hodgkin lymphoma, Basal cell carcinoma, Adenocarcinoma of the colon, Medulloblastoma, Neurobl... OMIM:276300
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hemophagocytosis, Thrombocytopenia, Hypertriglyceri... OMIM:613101
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hemophagocytosis, Hepatomegaly, Hypertriglyceridemi... OMIM:300635
Pseudopelade Of Brocq
Abnormality of the nail, Abnormal hair morphology, Sparse scalp hair, Alopecia, Aplasia/Hypoplasi... ORPHA:129
Hypotrichosis 6
Sparse hair, Sparse and thin eyebrow, Brittle hair, Pili torti, Sparse eyelashes OMIM:607903
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:201910
Familial Hyperaldosteronism Type I
Secretory adrenocortical adenoma, Abnormal circulating renin, Hypokalemia, Dexamethasone-suppress... ORPHA:403
Temple Syndrome
Hypercholesterolemia, Cryptorchidism, Maturity-onset diabetes of the young, Hypertriglyceridemia,... OMIM:616222
Galactokinase Deficiency
Hypercholesterolemia, Hyperinsulinemia, Hypergonadotropic hypogonadism, Increased level of galact... ORPHA:79237
Fanconi Anemia, Complementation Group D1
Acute myeloid leukemia, Bone marrow hypocellularity, T-cell acute lymphoblastic leukemias OMIM:605724
Autoimmune Polyendocrinopathy Type 1
Increased circulating cortisol level, Abnormal calcium-phosphate regulating hormone level, Primar... ORPHA:3453
Storage Pool Platelet Disease
Myelodysplasia, Decreased mean platelet volume, Acute leukemia OMIM:185050
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:202110
Trichodental Dysplasia
Fine hair, Brittle hair, Sparse hair, Slow-growing hair OMIM:601453
Chromosome 14Q32 Duplication Syndrome, 700-Kb
Myeloid leukemia OMIM:616604
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Myelodysplasia, Multiple myeloma, Leukocytosis, Chronic lymphatic leukemia, Lym... ORPHA:98849
Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy
Anterior cervical hypertrichosis OMIM:239840
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypercholesterolemia, Cirrhosis, Elevated hepatic transaminase, Hepatocellular adenoma, Hepatocel... ORPHA:370
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Hypertriglyceridemia, Pancreatitis OMIM:606721
Autosomal Dominant Severe Congenital Neutropenia
Hemangioma, Myelodysplasia, Monocytosis, Lymphopenia, Leukemia, Neutropenia, Acute myeloid leukem... ORPHA:486
Dohle Bodies And Leukemia
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia OMIM:223350
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Thrombocytopenia, Bone marrow hypocellularity, Abnormal neutrophil count, Splenomeg... ORPHA:3226
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Myeloid leukemia, Myelodysplasia, Pancytopenia, Aplastic anemia, Anemia, Mediastinal lymphadenopa... OMIM:614742
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Neutropenia, Pancytopenia, Thrombocytopenia, Hypoplastic anemia, A... OMIM:159550
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Elevated hepatic transaminase, Hepatic steatosis, Hepatoce... ORPHA:247585
Hypercholesterolemia, Cirrhosis, Fatal liver failure in infancy, Elevated hepatic transaminase, T... ORPHA:263501
Hypotrichosis-Intellectual Disability, Lopes Type
Sparse hair ORPHA:2266
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia, Maturity-onset diabetes of the young, Precocious puberty ORPHA:254531
Myeloproliferative disorder, Splenomegaly OMIM:254450
Griscelli Syndrome Type 2
Hemophagocytosis, Neutropenia, Hepatomegaly, Jaundice, Pancytopenia, Splenomegaly, Hyperlipidemia ORPHA:79477
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hemophagocytosis, Pancytopenia, Hypertriglyceridemi... OMIM:618398
Xanthelasma, Hypercholesterolemia, Hepatic steatosis, Hypothyroidism, Acute pancreatitis, Hepatom... ORPHA:412
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Cirrhosis, Hyperinsulinemia, Hepatic steatosis, Polycystic ovaries, Hepatom... ORPHA:528
Hyperaldosteronism, Familial, Type Iii
Decreased circulating renin level, Adrenal hyperplasia, Hypokalemia, Hyperaldosteronism OMIM:613677
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Leukemia, Nephroblastoma, Meningioma OMIM:602501
Bjornstad Syndrome
Dry hair, Hair shafts flattened at irregular intervals and twisted through 180 degrees about thei... OMIM:262000
Primary Pigmented Nodular Adrenocortical Disease
Pigmented micronodular adrenocortical disease, Hypogonadism, Adrenal hyperplasia, Diabetes mellitus ORPHA:189439
Syndromic Recessive X-Linked Ichthyosis
Hypogonadism, Cryptorchidism, Testicular seminoma, Acute leukemia ORPHA:281090
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Cirrhosis, Elevated hepatic transaminase, Hepatocellular adenoma, Hepatic s... ORPHA:264580
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hyperthreoninemia, Abnormal cir... ORPHA:247598
Acth-Independent Macronodular Adrenal Hyperplasia
Decreased circulating ACTH level, Increased circulating cortisol level, Primary hypercortisolism,... OMIM:219080
Immunodeficiency 36
Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, B-cell lymphoma OMIM:616005
Myelocytic Leukemia-Like Syndrome, Familial, Chronic
Chronic myelogenous leukemia OMIM:600080
Acute Panmyelosis With Myelofibrosis
Lymphocytosis, Acute myelomonocytic leukemia, Pancytopenia, Acute myeloid leukemia, Splenomegaly,... ORPHA:86843
Acute Monoblastic/Monocytic Leukemia
Lymphocytosis, Hypochromic anemia, Acute monocytic leukemia, Leukocytosis, Central hypothyroidism... ORPHA:514
Pili Torti, Early-Onset
Dry hair, Hair shafts flattened at irregular intervals and twisted through 180 degrees about thei... OMIM:261900
Aggressive Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Leukocytosis, Neutropenia, Pancytopenia, Thrombocytopen... ORPHA:98850
Pigmented Nodular Adrenocortical Disease, Primary, 4
Adrenal hyperplasia, Increased circulating cortisol level, Primary hypercortisolism, Diabetes mel... OMIM:615830
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Laron Syndrome
Hypercholesterolemia, Delayed puberty, Abnormality of the endocrine system ORPHA:633
Acute Promyelocytic Leukemia
Acute promyelocytic leukemia OMIM:612376
Familial Hyperaldosteronism Type Iii
Abnormal circulating renin, Adrenal hyperplasia, Hypokalemia, Glucocortocoid-insensitive primary ... ORPHA:251274
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Diabetes mellitus, Meningioma, Macronodular adrenal hyperplasia ORPHA:189427
Griscelli Syndrome, Type 2
Hemophagocytosis, Hepatosplenomegaly OMIM:607624
Lig4 Syndrome
Cryptorchidism, Leukocytosis, Hypothyroidism, Lymphoma, Pancytopenia, Type II diabetes mellitus, ... ORPHA:99812
Essential Thrombocythemia
Myelodysplasia, Abnormal platelet morphology, Acute leukemia, Splenomegaly ORPHA:3318
Non-Hodgkin lymphoma, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lym... OMIM:208900
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH level, Increased circulating cortiso... OMIM:615954
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia OMIM:241090
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90793
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hyperbi... OMIM:607765
Diffuse Cutaneous Mastocytosis
Leukemia, Cutaneous mastocytosis ORPHA:79456
Lysosomal Acid Lipase Deficiency
Xanthelasma, Hypercholesterolemia, Fatal liver failure in infancy, Bone-marrow foam cells, Microv... ORPHA:275761
Turcot Syndrome With Polyposis
Adenomatous colonic polyposis, Neoplasm of the central nervous system, Pilomatrixoma, Cerebellar ... ORPHA:99818
African Iron Overload
Increased circulating ferritin concentration, Peritonitis, Micronodular cirrhosis, Increased circ... ORPHA:139507
Idiopathic Steroid-Resistant Nephrotic Syndrome
Peritonitis, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglyceridemia... ORPHA:567548
Primary Unilateral Adrenal Hyperplasia
Decreased circulating renin level, Adrenal hyperplasia, Hypokalemia, Glucocortocoid-insensitive p... ORPHA:231580
Hypotrichosis And Recurrent Skin Vesicles
Sparse eyebrow, Sparse hair, Leukonychia, Sparse axillary hair, Sparse scalp hair, Sparse body ha... OMIM:613102
Chilblain Lupus
Chronic myelomonocytic leukemia ORPHA:90280
Acth Deficiency, Isolated
Adrenal hypoplasia, Decreased circulating cortisol level, Cholestasis, Jaundice, Adrenocorticotro... OMIM:201400
Retinoblastoma, Lymphoma, Osteosarcoma, Pinealoma, Leukemia, Ewing sarcoma OMIM:180200
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Goiter, Increased pituitary glycoprotein hormone alpha subunit level, Decre... ORPHA:90674
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Hyperactive renin-angiotensin system, Hyponatremia, Macroor... ORPHA:90790
Elevated hepatic transaminase, Abnormal macrophage morphology, Pancytopenia, Hepatomegaly, Thromb... ORPHA:507
Refractory Anemia With Excess Blasts
Single lineage myelodysplasia, Leukocytosis, Thrombocytopenia, Acute myeloid leukemia, Anemia of ... ORPHA:86839
Smith-Magenis Syndrome
Hypercholesterolemia, Abnormality of the thyroid gland, Hypertriglyceridemia OMIM:182290
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia OMIM:208920
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hemopha... OMIM:267700
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Lymphoproliferative disorder, Chronic lymphatic leukemia, Splenomegaly ORPHA:90033
Chylomicron Retention Disease
Hypotriglyceridemia, Steatorrhea, Hypocholesterolemia, Decreased LDL cholesterol concentration, H... OMIM:246700
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia, Cryptorchidism, Precocious puberty, Maturity-onset diabetes of the young ORPHA:96184
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Abnormal circulating renin, Adrenal hyperplasia, Hypokalemia, Hyperaldosteronism ORPHA:369929
Proteus Syndrome
Neoplasm of the central nervous system, Ovarian neoplasm, Hamartoma, Visceral angiomatosis, Retin... ORPHA:744
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia OMIM:615812
Zinc Deficiency, Transient Neonatal
Alopecia OMIM:608118
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Abnormal circulating dehydroepiandrosterone concentration, Cryptorchidism, Increased circulating ... ORPHA:90791
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia, Type II diabetes mellitus ORPHA:401923
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Hyperinsulinemia, Hepatic steatosis, Insulin-resistant diabetes mellitus, A... OMIM:151660
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperglutaminemia, Leukopenia... ORPHA:470
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Multicentric Reticulohistiocytosis
Histiocytosis ORPHA:139436
Congenital Analbuminemia
Hypercholesterolemia, Hypoproteinemia, Hypoalbuminemia, Increased alpha-globulin, Hyperlipidemia ORPHA:86816
Omenn Syndrome
Severe B lymphocytopenia, Lymphadenopathy, Hypoplasia of the thymus, Thrombocytopenia, B lymphocy... OMIM:603554
Acquired Aneurysmal Subarachnoid Hemorrhage
Leukocytosis, Hypercholesterolemia, Hypothyroidism, Hypopituitarism ORPHA:90065
Nasu-Hakola Disease
Acute leukemia ORPHA:2770
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Elevated serum 11-deoxycortisol, Precocious ... OMIM:202010
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Adrenal hyperplasia, Premature pubarche OMIM:201810
Bloom Syndrome
Cryptorchidism, Lymphoma, Type II diabetes mellitus, Leukemia, Squamous cell carcinoma OMIM:210900
Alopecia OMIM:613229
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Histiocytosis, Hypoalbuminemia, Anemia, Splenomegaly, Hepatosplenom... OMIM:209950
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Leukemia, Abnormality of the thymus OMIM:208910
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Neutropenia, Hepatomegaly, Pancytopenia, Thrombocytopenia, Fulmi... OMIM:308240
Shwachman-Diamond Syndrome
Myelodysplasia, Chronic neutropenia, Neutropenia, Hypopituitarism, Impaired neutrophil chemotaxis... ORPHA:811
Down Syndrome
Hypothyroidism, Acute megakaryocytic leukemia, Myeloproliferative disorder OMIM:190685
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypoalbuminemia, Elevat... ORPHA:64753
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hemophagocytosis, Elevated hepatic transaminase, Ne... ORPHA:540
Chronic leukemia, Sarcoma, Splenomegaly, Mastocytosis, Acute leukemia ORPHA:98292
Maternal Uniparental Disomy Of Chromosome 6
Thrombocytopenia, Hydrocele testis, Congenital adrenal hyperplasia, Increased serum testosterone ... ORPHA:96181
Pyoderma Gangrenosum
Myeloid leukemia, Myelodysplasia ORPHA:48104
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Increased circulating cortisol level, Abnormal circulating test... ORPHA:786
Mandibuloacral Dysplasia
Hypercholesterolemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Hypertriglyceridemia... ORPHA:2457
Gm1-Gangliosidosis, Type Ii
Sea-blue histiocytosis OMIM:230600
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Xanthelasma, Hypercholesterolemia, Increased hepatic glycogen content, Hepatocellular adenoma, He... ORPHA:79259
Congenital Enterovirus Infection
Leukocytosis, Abnormal macrophage morphology, Neutropenia, Cholestasis, Thrombocytopenia, Hepatit... ORPHA:292
Familial Thrombocytosis
Myelodysplasia, Thrombocytosis, Chronic myelogenous leukemia, Acute myeloid leukemia, Splenomegaly ORPHA:71493
Noonan Syndrome 6
Cryptorchidism, Juvenile myelomonocytic leukemia OMIM:613224
Fanconi Anemia, Complementation Group E
Cryptorchidism, Hypergonadotropic hypogonadism, Neutropenia, Reticulocytopenia, Pancytopenia, Thr... OMIM:600901
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hemopha... OMIM:603553
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Decreased proportion of CD4-positive helper T cells, Decreased proporti... OMIM:617241
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Decreased testicular size, Hypertriglyceridemia OMIM:610644
Fanconi Anemia, Complementation Group A
Cryptorchidism, Hypergonadotropic hypogonadism, Neutropenia, Reticulocytopenia, Pancytopenia, Thr... OMIM:227650
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, T lymphocytopenia, Impaired lymphocyte transformation with phytohemaggl... OMIM:300400
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Lymph node hypoplasia, Aplasia of the thymus OMIM:602450
Bone-marrow foam cells OMIM:256150
Fanconi Anemia, Complementation Group C
Cryptorchidism, Hypergonadotropic hypogonadism, Neutropenia, Reticulocytopenia, Pancytopenia, Thr... OMIM:227645
Rothmund-Thomson Syndrome Type 1
Cryptorchidism, Myelodysplasia, Basal cell carcinoma, Neoplasm of the skin, Hypothyroidism, Neutr... ORPHA:221008
Retinoblastoma, Glioma, Lymphoma, Leiomyosarcoma, Osteosarcoma, Rhabdomyosarcoma, Leukemia, Pineo... ORPHA:790
Waldenström Macroglobulinemia
Abnormality of neutrophils, Normocytic anemia, Lymphoma, Splenomegaly, Leukemia, Monoclonal immun... ORPHA:33226
Cushing Disease
Hypokalemia, Diabetes mellitus, Adrenal hyperplasia, Premature ovarian insufficiency, Pituitary a... ORPHA:96253
Bloom Syndrome
Myelodysplasia, Recurrent tonsillitis, Neoplasm of the skin, Abnormal proportion of CD8-positive ... ORPHA:125
Megalocornea-Mental Retardation Syndrome
Hypercholesterolemia, Primary hypothyroidism OMIM:249310
Niemann-Pick Disease, Type C1
Fatal liver failure in infancy, Bone-marrow foam cells, Hepatomegaly, Prolonged neonatal jaundice... OMIM:257220
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Smith-Magenis Syndrome
Hypercholesterolemia, Hypothyroidism, Hypertriglyceridemia, Delayed puberty, Precocious puberty ORPHA:819
Porphyria Due To Ala Dehydratase Deficiency
Abnormal erythrocyte enzyme level, Myeloproliferative disorder ORPHA:100924
Cahmr Syndrome
Generalized hypertrichosis OMIM:211770
Sweet Syndrome
Leukocytosis, Chronic lymphatic leukemia, Neoplasm, Hematological neoplasm, Acute myeloid leukemi... ORPHA:3243
Neurofibromatosis Type 1
Cryptorchidism, Lisch nodules, Neoplasm of the gastrointestinal tract, Urinary tract neoplasm, Ne... ORPHA:636
Paroxysmal Nocturnal Hemoglobinuria
Myelodysplasia, Hemolytic anemia, Pancytopenia, Hypoplastic anemia, Acute myeloid leukemia, Aplas... ORPHA:447
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia, Hypothyroidism ORPHA:2479
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Lymphocytosis, Pancytopenia, Histiocytosis, Decreas... ORPHA:2442
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Tatton-Brown-Rahman Syndrome
Myeloid leukemia, Cryptorchidism, Neuroendocrine neoplasm ORPHA:404443
Sea-Blue Histiocytosis
Hepatomegaly, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly ORPHA:158029
Rothmund-Thomson Syndrome Type 2
Cryptorchidism, Myelodysplasia, Basal cell carcinoma, Neutropenia, Squamous cell carcinoma, Lymph... ORPHA:221016
Lymphoproliferative Syndrome 2
Hemophagocytosis, Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatosplenomegaly OMIM:615122
T-Cell Immunodeficiency With Thymic Aplasia
Abnormal T cell morphology, Lymphopenia, Aplasia of the thymus, Hepatosplenomegaly OMIM:242700
Fanconi Anemia, Complementation Group D2
Cryptorchidism, Hypergonadotropic hypogonadism, Neutropenia, Reticulocytopenia, Pancytopenia, Thr... OMIM:227646
Down Syndrome
Abnormality of the lymphatic system, Hypothyroidism, Acute megakaryocytic leukemia, Type II diabe... ORPHA:870
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Abnormality of the intrahepatic bile duct, Hypertriglyceridemia, Pulmonary ... ORPHA:363618
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Elevated circulating creatine kinase concentration, Abnormal macrophage morphology ORPHA:353
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus ORPHA:3004
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration, Non-caseating epithelioid cell granulomatosis OMIM:607665
Polycythemia Vera
Myelodysplasia, Acute leukemia, Splenomegaly ORPHA:729
Niemann-Pick Disease, Type C2
Bone-marrow foam cells, Hepatomegaly, Prolonged neonatal jaundice, Sea-blue histiocytosis, Spleno... OMIM:607625
Wiskott-Aldrich Syndrome
Hemolytic anemia, Chronic leukemia, Microcytic anemia, Lymphopenia, Neutropenia, Lymphoma, Hypopl... ORPHA:906
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal response to ACTH stimulation test, Cryptorchidism, Increased circulating corticosterone ... ORPHA:95699
Niemann-Pick Disease, Type A
Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cells, Microcytic... OMIM:257200
Shwachman-Diamond Syndrome 1
Myelodysplasia, Persistence of hemoglobin F, Neutropenia, Pancytopenia, Thrombocytopenia, Acute m... OMIM:260400
Bone Marrow Failure Syndrome 3
Cryptorchidism, Pancytopenia, Acute myeloid leukemia, Aplastic anemia, Bone marrow hypocellularity OMIM:617052
Rothmund-Thomson Syndrome
Basal cell carcinoma, Myelodysplasia, Neutropenia, Squamous cell carcinoma, Aplastic anemia, Anem... ORPHA:2909
Alagille Syndrome 1
Hypercholesterolemia, Cirrhosis, Elevated hepatic transaminase, Reduced number of intrahepatic bi... OMIM:118450
Nijmegen Breakage Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Glioma, B-cell lymphoma, Neoplasm, Thrombocytopeni... ORPHA:647
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Cryptorchidism, Erythroid hypoplasia, Monocytosis, Lymphopenia, Neutropenia, Hypoplasia of the th... OMIM:612541
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Adrenal gland agenesis OMIM:611812
Neuraminidase Deficiency
Hepatomegaly, Bone-marrow foam cells, Vacuolated lymphocytes, Splenomegaly OMIM:256550
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Hemophagocytosis, Hypoproteinemia, Increased propor... ORPHA:167
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Extramedullary hematopoiesis, Hyperbilirubinemia, Hepatomegaly, Pancytopenia, Throm... OMIM:259720
Congenital Factor Xiii Deficiency
Myeloid leukemia ORPHA:331
Mosaic Variegated Aneuploidy Syndrome 1
Cryptorchidism, Leukemia, Nephroblastoma, Rhabdomyosarcoma OMIM:257300
Gastrointestinal Defects And Immunodeficiency Syndrome
Hypoplasia of the thymus, Autoimmune hemolytic anemia OMIM:243150
Mosaic Variegated Aneuploidy Syndrome
Myelodysplasia, Hypothyroidism, Neoplasm, Nephroblastoma, Stomach cancer, Rhabdomyosarcoma, Vagin... ORPHA:1052
Chediak-Higashi Syndrome
Hemophagocytosis, Abnormal dense granules, Impaired neutrophil bactericidal activity, Neutropenia... OMIM:214500
Idiopathic Hypereosinophilic Syndrome
Myelodysplasia, Thrombocytosis, Leukocytosis, Generalized lymphadenopathy, Thrombocytopenia, Anem... ORPHA:3260
Blackfan-Diamond Anemia
Elevated red cell adenosine deaminase level, Erythroid hypoplasia, Myelodysplasia, Pure red cell ... ORPHA:124
17Q11 Microdeletion Syndrome
Atypical neurofibromatosis, Plexiform neurofibroma, Delayed puberty, Breast carcinoma, Elevated c... ORPHA:97685
Noonan Syndrome 2
Cryptorchidism, Leukemia OMIM:605275
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay
Myelodysplasia, Neutropenia, Acute myeloid leukemia, Anemia, Decreased testicular size OMIM:601347
Dubowitz Syndrome
Cryptorchidism, Abnormality of neutrophils, Lymphoma, Neoplasm, Thrombocytopenia, Anemia, Acute l... ORPHA:235
Juvenile Xanthogranuloma
Myeloproliferative disorder ORPHA:158000
Dyskeratosis Congenita, X-Linked
Cryptorchidism, Myelodysplasia, Carcinoma, Pancytopenia, Thrombocytopenia, Hodgkin lymphoma, Acut... OMIM:305000
Autoimmune Polyendocrinopathy Type 3
Non-caseating epithelioid cell granulomatosis, Graves disease, Autoimmune thrombocytopenia, Anter... ORPHA:227982
H Syndrome
Microcytic anemia, Hypertriglyceridemia, Delayed puberty, Histiocytosis, Diabetes mellitus, Decre... ORPHA:168569
Dubowitz Syndrome
Cryptorchidism, Neuroblastoma, Lymphoma, Aplastic anemia, Acute lymphoblastic leukemia OMIM:223370
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Autoimmune thrombocytopenia, Autoimmune hemolyti... OMIM:102700
Autoimmune Polyendocrinopathy Type 4
Non-caseating epithelioid cell granulomatosis, Autoimmune thrombocytopenia, Anterior pituitary dy... ORPHA:227990
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Hemophagocytosis, Hepatosplenomegaly ORPHA:86884
Neoplasm, Lymphoid leukemia, Mediastinal lymphadenopathy ORPHA:1546
Graft Versus Host Disease
Acute hepatitis, Hemophagocytosis, Elevated hepatic transaminase, Hyperbilirubinemia, Jaundice, C... ORPHA:39812
Schinzel-Giedion Syndrome
Myeloid leukemia, Facial hemangioma, Sacrococcygeal teratoma, Annular pancreas, Central hypothyro... ORPHA:798
Ellis Van Creveld Syndrome
Cryptorchidism, Acute leukemia ORPHA:289
Steinert Myotonic Dystrophy
Hypercholesterolemia, Male hypogonadism, Elevated hepatic transaminase, Hyperinsulinemia, Hypergo... ORPHA:273
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome
Hypoplastic nipples, Acute lymphoblastic leukemia OMIM:280000
Tetraamelia Syndrome 1
Asplenia, Adrenal gland agenesis OMIM:273395
Oculocerebrorenal Syndrome Of Lowe
Hypophosphatemia, Hypoammonemia, Hypercholesterolemia, Cryptorchidism, Abnormal calcium-phosphate... ORPHA:534
Niemann-Pick Disease Type B
Autoimmune thrombocytopenia, Decreased serum insulin-like growth factor 1, Acute promyelocytic le... ORPHA:77293
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Cryptorchidism, Juvenile myelomonocytic leukemia OMIM:613563
Aicardi-Goutières Syndrome
Hypothyroidism, Chronic lymphatic leukemia, Enchondroma, Diabetes mellitus, Hepatosplenomegaly, N... ORPHA:51
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus ORPHA:40366
Noonan Syndrome 3
Cryptorchidism, Juvenile myelomonocytic leukemia OMIM:609942
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Leukemia, Lymphoma ORPHA:2526
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hemophagocytosis, Hepatomegaly, Thrombocytopenia, P... OMIM:222700
Poland Syndrome
Cryptorchidism, Retinal hamartoma, Neoplasm of the breast, Diabetes mellitus, Acute leukemia ORPHA:2911
Homozygous Familial Hypercholesterolemia
Hypercholesterolemia, Increased LDL cholesterol concentration, Hyperlipidemia, Hepatic steatosis ORPHA:391665
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Impaired oxidative burst, Rectal abscess, Hepatomegaly, Splenomegaly, Liver abscess, Granulomatosis OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Impaired oxidative burst, Rectal abscess, Hepatomegaly, Splenomegaly, Liver abscess, Granulomatosis OMIM:233710
Peroxisome Biogenesis Disorder 2A (Zellweger)
Hypoplasia of the thymus, Cryptorchidism OMIM:214110
Lethal Congenital Contracture Syndrome 10
Hypoplasia of the thymus OMIM:617022
Hydrolethalus Syndrome 1
Accessory spleen, Adrenal gland dysgenesis OMIM:236680
Granulomatous Disease, Chronic, X-Linked
Impaired oxidative burst, Rectal abscess, Hepatomegaly, Splenomegaly, Liver abscess, Granulomatosis OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Impaired oxidative burst, Rectal abscess, Hepatomegaly, Splenomegaly, Liver abscess, Granulomatosis OMIM:233690
Chime Syndrome
Acute leukemia ORPHA:3474
Leukocyte Adhesion Deficiency
Recurrent tonsillitis, Thrombocytosis, Hyperinsulinemic hypoglycemia, Leukocytosis, Polycythemia,... ORPHA:2968
Histiocytosis-Lymphadenopathy Plus Syndrome
Hypergonadotropic hypogonadism, Hepatomegaly, Histiocytosis, Pancreatic hypoplasia, Type I diabet... OMIM:602782
Monosomy 22
Hypochromic microcytic anemia, Aplasia of the thymus, Meningioma, Gonadal neoplasm, Sarcoma, Schw... ORPHA:96123
Rubinstein-Taybi Syndrome 1
Cryptorchidism, Neoplasm, Papillary cystadenoma of the epididymis, Leukemia, Premature thelarche,... OMIM:180849
Lowe Oculocerebrorenal Syndrome
Hypercholesterolemia, Elevated amniotic fluid alpha-fetoprotein, Cryptorchidism, Bicarbonaturia, ... OMIM:309000
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Autoimmune hemolytic anemia, Hashimoto thyroiditis, Rectal abscess, Hypoplasi... ORPHA:436252
Chronic Thromboembolic Pulmonary Hypertension
Neoplasm, Myeloproliferative disorder ORPHA:70591
Noonan Syndrome 1
Cryptorchidism, Juvenile myelomonocytic leukemia, Amegakaryocytic thrombocytopenia, Neurofibrosar... OMIM:163950
Syndromic Diarrhea
Thrombocytosis, Hypothyroidism, Lymphopenia, Increased mean platelet volume, Hypoplasia of the th... ORPHA:84064
Doors Syndrome
Congenital hypothyroidism, Adrenal hyperplasia, Thrombocytosis ORPHA:79500
Peritonitis, Abscess, Splenic abscess, Jaundice, Cholecystitis, Abnormal cellular immune system m... ORPHA:533
Treacher-Collins Syndrome
Cryptorchidism, Multiple enchondromatosis, Hypoplasia of the thymus, Thyroid hypoplasia, Abnormal... ORPHA:861
Sotos Syndrome
Cryptorchidism, Hemangioma, Hydrocele testis, Sacrococcygeal teratoma, Neuroblastoma, Hypothyroid... ORPHA:821
Eec Syndrome
Hypoplasia of the thymus, Lymphoma, Anterior hypopituitarism, Decreased response to growth hormon... ORPHA:1896
Granulomatosis With Polyangiitis
Elevated circulating C-reactive protein concentration, Pancreatitis, Diabetes insipidus, Abnormal... ORPHA:900
Niemann-Pick Disease Type C
Bone-marrow foam cells, Hepatomegaly, Jaundice, Hepatic failure, Splenomegaly, Hepatosplenomegaly... ORPHA:646
22Q11.2 Deletion Syndrome
Cryptorchidism, Hypothyroidism, Cholelithiasis, Hypoplasia of the thymus, Thrombocytopenia, Splen... ORPHA:567
Granulomatosis With Polyangiitis
Granulomatosis OMIM:608710
Truncus Arteriosus
Hypoplasia of the thymus, Adrenocortical abnormality ORPHA:3384


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
Soat1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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