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Gene: Soat1 MGI:104665

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
sterol O-acyltransferase 1
Synonyms:
8430426K15Rik,  hid,  Acact,  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.

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
phenotypes		 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
Abnormality of the nail, Abnormal hair morphology ORPHA:50942
Keratosis Palmoplantaris Striata Iii
Abnormality of the nail, Abnormal hair morphology OMIM:607654
Thyroid Hormone Metabolism, Abnormal, 2
Elevated circulating reverse T3 concentration, Hypercholesterolemia, Elevated circulating rT3/T3 ... OMIM:619855
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... ORPHA:79506
Pili Bifurcati
Abnormality of hair texture, Abnormal hair morphology ORPHA:720
Ringed Hair Disease
Fine hair, Abnormal hair pattern ORPHA:169
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Alopecia Areata 2
Alopecia totalis, Alopecia universalis, Alopecia of scalp, Patchy alopecia OMIM:610753
Lymphoblastic Leukemia, Acute, With Lymphomatous Features
T-cell acute lymphoblastic leukemias, Acute lymphoblastic leukemia, Lymphoma OMIM:247640
Hypotrichosis 1
Abnormality of the nail, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse pubic hair, S... OMIM:605389
Hypertrichosis Lanuginosa Congenita
Congenital, generalized hypertrichosis, Double eyebrow OMIM:145700
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Hypotrichosis 11
Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Sparse hair, Absent axillary hair,... OMIM:615059
Alopecia Universalis Congenita
Absent pubic hair, Absent eyelashes, Absent eyebrow, Absent axillary hair, Alopecia universalis OMIM:203655
Alopecia-Intellectual Disability Syndrome 1
Alopecia universalis, Alopecia OMIM:203650
Hypotrichosis Simplex
Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse hair, Alopecia ORPHA:55654
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Incr... OMIM:232700
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Hypotrichosis 4
Uncombable hair, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Alopecia OMIM:146550
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Hypotrichosis 10
Abnormality of the nail, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow OMIM:614238
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytohemagglutin... OMIM:153600
Erythroleukemia, Familial, Susceptibility To
Anemia, Acute myeloid leukemia, Refractory anemia with ringed sideroblasts, Thrombocytopenia, Spl... OMIM:133180
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Sparse hair OMIM:246500
Isolated Anencephaly
Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes ORPHA:563609
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder, Malignant eosinophil proliferation OMIM:131440
Hypertrichosis, Anterior Cervical
Anterior cervical hypertrichosis OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type
Congenital, generalized hypertrichosis OMIM:145701
Hypertrichosis, Congenital Generalized, 2
Congenital, generalized hypertrichosis, Hirsutism OMIM:307150
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Alopecia Areata 1
Patchy alopecia, Nail pits, Trachyonychia, Alopecia totalis, Alopecia universalis OMIM:104000
Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia OMIM:607785
Congenital Smooth Muscle Hamartoma, With Or Without Hemihypertrophy
Hypertrichosis OMIM:620470
Ectodermal Dysplasia 6, Hair/Nail Type
Thin toenail, Dystrophic toenail, Sparse hair, Alopecia OMIM:614928
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Hepatomegaly, Increased serum bile acid concentration, Portal fibrosis, Elevated circul... OMIM:619868
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia of scalp, Alopecia OMIM:260910
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Elevated circulating hepatic transaminase concentration, Decreased circ... OMIM:616829
Coronary Artery Disease, Autosomal Dominant, 1
Diabetes mellitus, Hypercholesterolemia OMIM:608320
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Adrenal calcification, Hyp... ORPHA:75234
Li-Fraumeni Syndrome
Acute leukemia, Prostate neoplasm, Neoplasm of the pancreas, Soft tissue sarcoma, Choriocarcinoma... OMIM:151623
Woolly Hair, Autosomal Recessive 3
Trichorrhexis nodosa, Sparse scalp hair, Curly hair, Sparse eyelashes, Sparse hair, Fine hair OMIM:616760
Graham Little-Piccardi-Lassueur Syndrome
Sparse pubic hair, Sparse scalp hair, Sparse axillary hair, Alopecia ORPHA:505
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
Hypothyroidism, Congenital, Nongoitrous, 8
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... OMIM:301033
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Myeloproliferative Disease, Autosomal Recessive
Myeloproliferative disorder OMIM:254700
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair ORPHA:1410
Li-Fraumeni Syndrome
Rhabdomyosarcoma, Neoplasm of the pancreas, Neoplasm of the larynx, Choriocarcinoma, Hodgkin lymp... ORPHA:524
Lipoid Congenital Adrenal Hyperplasia
Adrenogenital syndrome, Congenital adrenal hyperplasia OMIM:201710
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 9
Leukopenia, Leukemia OMIM:620400
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia, Increased LD... OMIM:615703
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Anemia, Hemophagocytosis, Hepatosplenomegaly, Granulocytopenia OMIM:608898
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia, Myelodysplasia OMIM:252270
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con... OMIM:616828
Nut Midline Carcinoma
Pancreatic squamous cell carcinoma, Squamous cell carcinoma, Oropharyngeal squamous cell carcinom... ORPHA:443167
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Thoracic hypertrichosis, Sacral hypertrichosis, Lumbar hypertrichosis, Anterior cervical hypertri... OMIM:117850
Loose Anagen Syndrome
Abnormal hair whorl, Abnormal hair morphology ORPHA:168
Mismatch Repair Cancer Syndrome 2
T-cell acute lymphoblastic leukemias, Colon cancer, Glioblastoma multiforme OMIM:619096
Trichodysplasia-Xeroderma Syndrome
Trichorrhexis nodosa, Coarse hair, Brittle hair, Sparse scalp hair, Sparse body hair, Sparse eyeb... ORPHA:3361
Glioma Susceptibility 3
Acute myeloid leukemia, Medulloblastoma, Astrocytoma, B Acute Lymphoblastic Leukemia, Glioblastom... OMIM:613029
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
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Nail dystrophy, Onychogryposis of toenails, Abnormality of the nail, Abnormal hair morphology, Sp... ORPHA:1808
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Colon cancer, Acute myeloid leukemia, Adenomatous colonic polyposis OMIM:246470
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Lymphocytosis, Lymphoma, Splenomegaly, Lymphoproliferative disorder, Hemolytic anem... OMIM:614470
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Acute hepatic failure... OMIM:278000
N Syndrome
Cryptorchidism, Leukemia, Neoplasm OMIM:310465
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Lymphoma, Bone marrow hypocellularity, Leukopenia, Mon... OMIM:616871
Marie Unna Hereditary Hypotrichosis
Sparse or absent eyelashes, Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow, Coarse hair, Al... ORPHA:444
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Angioma Serpiginosum, X-Linked
Nail dystrophy, Fine hair, Sparse hair OMIM:300652
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hepatomegaly, Hypocalcemia, Hepatosplenomegaly, Splenomegaly, Hepatic steat... OMIM:612526
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hype... OMIM:306000
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Decreased circulating renin level, Adrenogenital syndrome, Hyperaldosteronism OMIM:103900
Fanconi Anemia, Complementation Group G
Anemia, Leukemia, Thrombocytopenia, Myelodysplasia, Neutropenia OMIM:614082
Parc Syndrome
Alopecia, Absent eyelashes, Absent eyebrow OMIM:600331
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Myelodysplasia... ORPHA:231401
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Sea-blue histiocytos... OMIM:607616
Nail Disorder, Nonsyndromic Congenital, 3
Concave nail, Leukonychia, Abnormal hair morphology OMIM:151600
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia of scalp, Onychogryposis of toenails, Dystrophic toenail, Sparse body hair, Alopecia OMIM:617294
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2
Aplastic anemia, Pancytopenia, Bone marrow hypocellularity, Leukemia, Myeloid leukemia OMIM:614743
Lymphedema, Primary, With Myelodysplasia
Acute myeloid leukemia, Pancytopenia, Verrucae, Myelodysplasia, Decreased CD4:CD8 ratio, Leukemia OMIM:614038
Histiocytosis, Familial Lipochrome
Increased alpha-globulin, Histiocytosis OMIM:235900
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Leukocytosis, Bone marrow hypocellularity, Multiple lineage myelodysplasi... ORPHA:98827
Reticular Dysgenesis
Congenital agranulocytosis, Leukopenia, Hypoplasia of the thymus, Lymphopenia OMIM:267500
Cholestasis, Progressive Familial Intrahepatic, 8
Cirrhosis, Jaundice, Hepatomegaly, Increased serum bile acid concentration, Sclerosing cholangiti... OMIM:619662
Cutaneous Neuroendocrine Carcinoma
Basal cell carcinoma, Merkel cell skin cancer, Squamous cell carcinoma of the skin, Chronic nonin... ORPHA:79140
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hodgkin lymphoma, Splenomegaly, Reduced natural killer cell count, Neutropenia, T-cell lymphoma, ... ORPHA:158057
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia OMIM:615863
Monilethrix
Nail dysplasia, Nail dystrophy, Brittle hair, Abnormality of hair texture, Sparse hair, Alopecia OMIM:158000
Uncombable Hair Syndrome 3
Curly hair, Uncombable hair, Pili canaliculi, Brittle hair OMIM:617252
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Hypothyroidism,... OMIM:620211
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Increased circulating chylomicron concentration... OMIM:207750
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Portal... OMIM:605814
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, Type I diabetes mellitus, T-cell acute lymphoblastic leukemias... OMIM:620044
Amed Syndrome, Digenic
Anemia, Acute myeloid leukemia, Adrenal hypoplasia, Bone marrow hypocellularity, Leukopenia, Thro... OMIM:619151
Hair Defect With Photosensitivity And Mental Retardation
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Coarse hair OMIM:234030
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Thrombocytopenia, Splenom... OMIM:603552
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Pancreatitis, ... ORPHA:69663
Generalized Eruptive Histiocytosis
Hypereosinophilia, Histiocytosis, Leukemia ORPHA:157991
Histiocytosis, Progressive Mucinous
Mucinous histiocytosis OMIM:142630
Hypotrichosis 12
Sparse or absent eyelashes, Abnormal sweat gland morphology, Abnormality of the nail, Slow-growin... OMIM:615885
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Nail dystrophy, Alopecia OMIM:616487
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ... ORPHA:86841
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Woolly hair, Sparse hair OMIM:278200
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Nail pits, Nail dystrophy, Ridged nail, Alopecia OMIM:601705
Uncombable Hair Syndrome 1
Uncombable hair, Pili canaliculi, Dry hair OMIM:191480
Papular Xanthoma
Histiocytosis ORPHA:158008
Hypotrichosis 7
Brittle hair, Abnormality of the nail, Abnormal sweat gland morphology, Sparse scalp hair, Woolly... OMIM:604379
Pili Torti
Brittle hair, Abnormality of the nail, Abnormality of hair texture, Abnormal eyebrow morphology, ... ORPHA:2889
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased circulating apolipoprotei... OMIM:620058
Chromosome 14Q32 Duplication Syndrome, 700-Kb
Acute myeloid leukemia, Chronic myelomonocytic leukemia OMIM:616604
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Refractory anemia w... ORPHA:75564
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Myelodysplasia, Neutropenia OMIM:610738
Hypotrichosis 5
Absent pubic hair, Abnormality of the nail, Abnormal sweat gland morphology, Sparse eyelashes, Th... OMIM:612841
Proteus-Like Syndrome
Hemangioma, Exostoses, Splenomegaly, Thymus hyperplasia, Subcutaneous lipoma, Polycystic ovaries,... ORPHA:2969
Immunodeficiency 21
Aplastic anemia, Cervical intraepithelial neoplasia, Anemia, Neutropenia, B lymphocytopenia, Lymp... OMIM:614172
Sabinas Brittle Hair Syndrome
Nail dysplasia, Nail dystrophy, Brittle hair, Sparse hair, Dry hair OMIM:211390
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Macrovesicular hepatic steatosis, Acute hepatic steatosis, Increased LDL ch... ORPHA:209902
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha... ORPHA:170
Ectodermal Dysplasia 9, Hair/Nail Type
Absent hair, Nail dystrophy, Abnormal sweat gland morphology, Abnormal sebaceous gland morphology... OMIM:614931
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis ORPHA:158025
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... OMIM:616000
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Woolly Hair, Autosomal Dominant
Coarse hair, Slow-growing hair, Abnormal eyelash morphology, Woolly hair, Abnormal eyebrow morpho... OMIM:194300
Hypercholesterolemia, Familial, 3
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Leukemia, Chronic Lymphocytic, Susceptibility To, 2
Chronic lymphatic leukemia OMIM:109543
Witkop Syndrome
Ridged nail, Abnormal sweat gland morphology, Hypoplastic fifth toenail, Nail pits, Sparse hair, ... OMIM:189500
Leukemia, Chronic Lymphocytic
Chronic lymphatic leukemia OMIM:151400
Hypotrichosis 13
Sparse eyelashes, Sparse hair, Woolly hair, Abnormal sweat gland morphology OMIM:615896
Monilethrix
Brittle hair, Abnormality of the nail, Slow-growing hair, Abnormal eyelash morphology, Patchy alo... ORPHA:573
Palmoplantar Keratoderma And Woolly Hair
Leukonychia, Sparse scalp hair, Woolly hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow OMIM:616099
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, T... OMIM:269600
Primary Erythromelalgia
Leukemia ORPHA:90026
Benign Cephalic Histiocytosis
Histiocytosis ORPHA:157997
Crandall Syndrome
Brittle hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Fine hair, Pili torti, Alopecia ORPHA:202
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome, Elevated circulating 21-deoxycortisol concentration OMIM:201910
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Hypotrichosis 14
Sparse body hair, Short eyelashes, Sparse pubic hair, Sparse hair, Absent axillary hair OMIM:618275
Ectodermal Dysplasia 4, Hair/Nail Type
Nail dystrophy, Brittle hair, Abnormal sweat gland morphology, Absent eyelashes, Absent eyebrow, ... OMIM:602032
Leukemia, Chronic Myeloid
Ph-positive acute lymphoblastic leukemia, Chronic myelogenous leukemia OMIM:608232
Dohle Bodies And Leukemia
Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies OMIM:223350
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Acute myelomonocytic leukemia, Hypopl... ORPHA:2585
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Lymphoproliferative Syndrome, X-Linked, 2
Hypertriglyceridemia, Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Splenomegaly... OMIM:300635
Tumor Predisposition Syndrome 2
Ductal carcinoma in situ, Acute myeloid leukemia, Uveal melanoma, Juvenile type ovarian granulosa... OMIM:619975
Mismatch Repair Cancer Syndrome 1
Basal cell carcinoma, T-cell lymphoma, Rhabdomyosarcoma, Pleomorphic xanthoastrocytoma, Ependymom... OMIM:276300
Familial Hyperaldosteronism Type Ii
Hypokalemia, Abnormal circulating renin, Secretory adrenocortical adenoma, Adrenal hyperplasia, G... ORPHA:404
Familial Hyperaldosteronism Type I
Dexamethasone-suppressible primary hyperaldosteronism, Hypokalemia, Abnormal circulating renin, S... ORPHA:403
Autoimmune Polyendocrinopathy Type 1
Abnormal circulating calcium-phosphate regulating hormone concentration, Hypoparathyroidism, Adre... ORPHA:3453
Pseudopelade Of Brocq
Abnormal hair morphology, Abnormality of the nail, Sparse scalp hair, Aplasia/Hypoplasia of the e... ORPHA:129
Ectodermal Dysplasia 7, Hair/Nail Type
Dystrophic fingernails, Brittle hair, Abnormal sweat gland morphology, Dystrophic toenail, Sparse... OMIM:614929
Fanconi Anemia, Complementation Group D1
T-cell acute lymphoblastic leukemias, Bone marrow hypocellularity, Acute myeloid leukemia OMIM:605724
Björnstad Syndrome
Alopecia, Brittle hair ORPHA:123
Fanconi Anemia, Complementation Group T
Anemia, Acute myeloid leukemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:616435
Hypotrichosis 6
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti OMIM:607903
Immunodeficiency, Common Variable, 13
B lymphocytopenia, Acute lymphoblastic leukemia, Pancytopenia OMIM:616873
Galactokinase Deficiency
Hepatomegaly, Hyperinsulinemia, Increased level of galactitol in plasma, Hypergalactosemia, Hyper... ORPHA:79237
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Anemia, Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocytopeni... OMIM:613101
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:202110
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... OMIM:616216
Trichodental Dysplasia
Slow-growing hair, Fine hair, Sparse hair, Brittle hair OMIM:601453
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Aplastic anemia, Mediastinal lymphadenopathy, Anemia, Pancytopenia, Bone marrow hypocellularity, ... OMIM:614742
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus OMIM:616622
Cog4-Cdg
Cirrhosis, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Thrombocy... ORPHA:263501
Storage Pool Platelet Disease
Acute leukemia, Myelodysplasia, Decreased mean platelet volume OMIM:185050
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Acute myeloid leukemia, Hemangioma, Acute lymphoblastic leukemia, Myelodysplasia... ORPHA:486
Hyperlipoproteinemia, Type I
Lactescent serum, Jaundice, Increased circulating chylomicron concentration, Hyperlipidemia, Acut... OMIM:238600
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic leukemia, Chron... ORPHA:98849
Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy
Anterior cervical hypertrichosis OMIM:239840
Immunodeficiency 69
Anemia, Hemophagocytosis, Thrombocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenom... OMIM:618963
Ataxia-Pancytopenia Syndrome
Anemia, Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Hypoplastic anemia, Neutro... OMIM:159550
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative disorder, Leukocyt... ORPHA:3226
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Maturity-onset diabetes of the young, Hypercholesterolemia ORPHA:254531
Griscelli Syndrome Type 2
Jaundice, Hepatomegaly, Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenomegaly, Neutropenia ORPHA:79477
Sitosterolemia 1
Xanthelasma, Elevated circulating sitosterol concentration, Reduced haptoglobin level, Chronic he... OMIM:210250
Essential Thrombocythemia
Acute leukemia, Leukocytosis, Abnormal platelet morphology, Splenomegaly, Thrombocytosis, Myelody... ORPHA:3318
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Elevat... ORPHA:247585
Congenital Disorder Of Glycosylation, Type Iiaa
Hepatomegaly, Cholestasis, Biliary cirrhosis, Hyperammonemia, Elevated circulating aspartate amin... OMIM:620454
Acth-Independent Macronodular Adrenal Hyperplasia
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Adrenal hyperplasia, ... OMIM:219080
Dysbetalipoproteinemia
Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Hepatomegaly, Increas... ORPHA:412
Morgagni-Stewart-Morel Syndrome
Abnormality of the endocrine system, Hyperuricemia, Hypothyroidism, Abnormality of the thyroid gl... ORPHA:77296
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Decreased circulating renin level, Hyperaldosteronism, Hypokalemia OMIM:613677
Syndromic Recessive X-Linked Ichthyosis
Acute leukemia, Cryptorchidism, Testicular seminoma, Hypogonadism ORPHA:281090
Hypotrichosis-Intellectual Disability, Lopes Type
Sparse hair ORPHA:2266
Aggressive Systemic Mastocytosis
Anemia, Lymphadenopathy, Increased proportion of CD25+ mast cells, Pancytopenia, Leukocytosis, He... ORPHA:98850
Myelofibrosis
Splenomegaly, Extramedullary hematopoiesis, Myeloproliferative disorder, Hemophagocytosis OMIM:254450
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Nephroblastoma, Meningioma, Leukemia OMIM:602501
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hypertriglyceridemia, Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly, Increased circulating... OMIM:618398
Pigmented Nodular Adrenocortical Disease, Primary, 4
Adrenal hyperplasia, Diabetes mellitus, Primary hypercortisolism, Increased circulating cortisol ... OMIM:615830
Bjornstad Syndrome
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Dr... OMIM:262000
Myelocytic Leukemia-Like Syndrome, Familial, Chronic
Chronic myelogenous leukemia OMIM:600080
Acute Monoblastic/Monocytic Leukemia
Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Central hypothyroidism, Hypochromi... ORPHA:514
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Hypercholesterolemia, Precocious puberty in female... ORPHA:528
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Delayed puberty, Hepatocellular adenoma, Cirrhosis, Elevated circulating he... ORPHA:264580
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A... ORPHA:86843
Pili Torti, Early-Onset
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Dr... OMIM:261900
Macrophage Activation Syndrome
Hypertriglyceridemia, Decreased liver function, Hepatomegaly, Anemia, Hemophagocytosis, Elevated ... ORPHA:158061
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr... OMIM:616005
Laron Syndrome
Delayed puberty, Hypercholesterolemia, Abnormality of the endocrine system ORPHA:633
Temple Syndrome
Hypertriglyceridemia, Maturity-onset diabetes of the young, Precocious puberty, Decreased testicu... OMIM:616222
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Pancytopenia, B lymphocytopenia, Increased proportion of effector memory CD8-positive, al... OMIM:619824
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Abnormal circulating renin, Hypokalemia, Glucocortocoid-insensitive primary ... ORPHA:251274
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACTH co... OMIM:615954
Acute Promyelocytic Leukemia
Acute promyelocytic leukemia OMIM:612376
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia OMIM:241090
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Absence of secondary sex characteristics, Precocious puberty in females, Abnorma... ORPHA:90793
Thymoma
Aplastic anemia, Neoplasm of the thyroid gland, Prostate neoplasm, Neoplasm of head and neck, Neo... ORPHA:99867
Immunodeficiency 47
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Normocytic anem... OMIM:300972
Bile Acid Synthesis Defect, Congenital, 1
Steatorrhea, Intrahepatic cholestasis, Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating he... OMIM:607765
Lig4 Syndrome
Acute leukemia, Lymphadenopathy, Pancytopenia, Leukocytosis, Lymphoma, Hypothyroidism, Type II di... ORPHA:99812
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Elevated circulating hepatic transaminas... ORPHA:79240
Griscelli Syndrome, Type 2
Hepatosplenomegaly, Hemophagocytosis OMIM:607624
Immunodeficiency 97 With Autoinflammation
Hypertriglyceridemia, Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, ... OMIM:619802
Turcot Syndrome With Polyposis
Intestinal polyposis, Cerebellar medulloblastoma, Pituitary adenoma, Desmoid tumors, Neoplasm of ... ORPHA:99818
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Type II diab... OMIM:615812
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Xanthelasma, Steatorrhea, Jaundice, Cirrhosis, Hepatome... ORPHA:186
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Jaundice, Hepatomegaly, Hemophagoc... OMIM:267700
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Lysosomal Acid Lipase Deficiency
Hypertriglyceridemia, Xanthelasma, Steatorrhea, Hyperkalemia, Decreased liver function, Elevated ... ORPHA:275761
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hepatomegaly, Neutropenia, Hemophagocytosis, Elevated circulating C-reactive pro... OMIM:308240
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Hemophagocytosis, Pancytopenia, Granuloma, Type I diabetes mellitus, H... OMIM:619858
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating renin level, Hypokalemia, Glucocortocoid-insensitive p... ORPHA:231580
Dietary Iron Overload Disease
Abnormal adrenal morphology, Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma... ORPHA:139507
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Abnormal circulating lipid concentration, Peritonitis, Hypoalbuminemia, Hyp... ORPHA:567548
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Single lineage myelodysplasia, Anemia of inadequate production, Leukocyto... ORPHA:86839
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Hyperlipidemia, Prima... ORPHA:189427
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperkalemia, Jaundice, Hyperactive renin-angiotensin system, Adrenal hyperplasia, Hyponatremia, ... ORPHA:90790
Chilblain Lupus
Chronic myelomonocytic leukemia ORPHA:90280
Ataxia-Telangiectasia
Delayed puberty, Hypoplasia of the thymus, Lymphoma, T lymphocytopenia, Female hypogonadism, Hodg... OMIM:208900
Leishmaniasis
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Pancytopenia, Abno... ORPHA:507
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Abnormal circulating thyroglobulin concentration, In... ORPHA:90674
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Elevated circulating ... OMIM:615558
Retinoblastoma
Retinoblastoma, Lymphoma, Ewing sarcoma, Osteosarcoma, Pinealoma, Leukemia OMIM:180200
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Maturity-onset diabetes of the young, Hypercholesterolemia, Cryptorchidism ORPHA:96184
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Splenomegaly, Lymphoproliferative disorder, Chronic lymphatic leukemia ORPHA:90033
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Hypokalemia, Abnormal circulating renin, Hyperaldosteronism ORPHA:369929
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyperkalemia, Increased circulating androstenedione concentration, Increased serum testosterone l... ORPHA:90791
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia, Abnormality of the thyroid gland OMIM:182290
Lysinuric Protein Intolerance
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Elevated circulating ... ORPHA:470
Lig4 Syndrome
Pancytopenia, Hypothyroidism, Acute lymphoblastic leukemia, Thrombocytopenia, Type II diabetes me... OMIM:606593
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Elevated circulating C-react... OMIM:613011
Maternal Uniparental Disomy Of Chromosome 6
Congenital adrenal hyperplasia, Thrombocytopenia, Increased serum testosterone level, Hydrocele t... ORPHA:96181
Zinc Deficiency, Transient Neonatal
Alopecia OMIM:608118
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:277460
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia, Type II diabetes mellitus ORPHA:401923
Nasu-Hakola Disease
Acute leukemia ORPHA:2770
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia ORPHA:86816
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypercholesterolemia... OMIM:151660
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Immunodeficiency 27A
Anemia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Hypoalbuminemia, Thrombocytosis, Histiocy... OMIM:209950
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the thymus, T lymphocyt... OMIM:300400
Multicentric Reticulohistiocytosis
Histiocytosis ORPHA:139436
Diffuse Cutaneous Mastocytosis
Lymphocytosis, Lymphadenopathy, Myeloproliferative disorder, Abnormality of the spleen ORPHA:79456
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration, Elevat... ORPHA:64753
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Abnormal dense granule content, Abnormal platelet shape, Acute monocytic ... OMIM:601399
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Precocious puberty in males, Increased serum... OMIM:202010
Proteus Syndrome
Lipoma, Lymphangioma, Splenomegaly, Neoplasm, Thymus hyperplasia, Hamartoma, Neoplasm of the cent... ORPHA:744
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatome... OMIM:603553
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Hypothyroidism, Hypercholesterolemia, Leukocytosis ORPHA:90065
Gaisböck Syndrome
Hypertriglyceridemia, Increased red blood cell count, Elevated plasma cell count, Hyperuricemia, ... ORPHA:90041
Trichotillomania
Alopecia OMIM:613229
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:617241
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Cholestatic liver disease, Decreased liver function, Jaundice, Elevated cir... ORPHA:540
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Myelodysplasia, Cryptorchidism, Supernumerary nipple, Leukemia OMIM:619951
Shwachman-Diamond Syndrome
Aplastic anemia, Decreased response to growth hormone stimulation test, Normocytic anemia, Anemia... ORPHA:811
Familial Thrombocytosis
Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Thrombocytosis, Myelodysplasia ORPHA:71493
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hemo... ORPHA:158048
Pyoderma Gangrenosum
Myelodysplasia, Myeloid leukemia ORPHA:48104
Mandibuloacral Dysplasia
Hypertriglyceridemia, Hyperinsulinemia, Increased circulating free fatty acid level, Hypercholest... ORPHA:2457
Generalized Glucocorticoid Resistance Syndrome
Abnormal circulating testosterone concentration, Hypokalemia, Increased urinary cortisol level, A... ORPHA:786
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Xanthelasma, Hepatocellular adenoma, Hepatomegaly, Pancreatitis, Delayed pu... ORPHA:79259
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Hypoplasia of the ... OMIM:619313
Noonan Syndrome 6
Juvenile myelomonocytic leukemia, Cryptorchidism OMIM:613224
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Elevated... OMIM:619644
Congenital Enterovirus Infection
Neutropenia, Anemia, Abnormal macrophage morphology, Cholestasis, Leukocytosis, Hyperammonemia, L... ORPHA:292
Fanconi Anemia, Complementation Group E
Anemia, Pancytopenia, Reticulocytopenia, Hypergonadotropic hypogonadism, Thrombocytopenia, Crypto... OMIM:600901
Smith-Magenis Syndrome
Hypertriglyceridemia, Delayed puberty, Precocious puberty, Hypothyroidism, Hypercholesterolemia ORPHA:819
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia, Decreased testicular size OMIM:610644
Waldenström Macroglobulinemia
Normocytic anemia, Lymphadenopathy, Lymphoma, Splenomegaly, Monoclonal immunoglobulin M proteinem... ORPHA:33226
Fanconi Anemia, Complementation Group A
Anemia, Pancytopenia, Reticulocytopenia, Hypergonadotropic hypogonadism, Thrombocytopenia, Crypto... OMIM:227650
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyperkalemia, Premature pubarche, Increased circulating dehydroepiandrosterone-sulfate concentrat... OMIM:201810
Tatton-Brown-Rahman Syndrome
Cryptorchidism, Neuroendocrine neoplasm, Myeloid leukemia ORPHA:404443
Neurofibromatosis Type 1
Delayed puberty, Rhabdomyosarcoma, Spinal neurofibroma, Abnormality of the endocrine system, Pheo... ORPHA:636
Bloom Syndrome
Esophageal neoplasm, Acute myeloid leukemia, Recurrent tonsillitis, Stomach cancer, Abnormal prop... ORPHA:125
Fanconi Anemia, Complementation Group C
Anemia, Pancytopenia, Reticulocytopenia, Hypergonadotropic hypogonadism, Bone marrow hypocellular... OMIM:227645
Cahmr Syndrome
Generalized hypertrichosis OMIM:211770
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, B lymphocytopenia, Agranulocytosis, ... OMIM:301078
Retinoblastoma
Rhabdomyosarcoma, Leiomyosarcoma, Retinoblastoma, Lymphoma, Ewing sarcoma, Melanoma, Glioma, Pine... ORPHA:790
Bardet-Biedl Syndrome 20
Elevated circulating hepatic transaminase concentration, Pancreatitis, Bilateral cryptorchidism, ... OMIM:619471
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Wiskott-Aldrich Syndrome
Acute leukemia, Anemia, Abnormal eosinophil morphology, Hypoplasia of the thymus, Lymphoma, Abnor... ORPHA:906
Porphyria Due To Ala Dehydratase Deficiency
Myeloproliferative disorder, Abnormal erythrocyte enzyme concentration or activity ORPHA:100924
Bone Marrow Failure Syndrome 3
Aplastic anemia, Hyperechogenic pancreas, Anemia, Acute myeloid leukemia, Pancytopenia, Increased... OMIM:617052
Down Syndrome
Delayed puberty, Abnormality of the lymphatic system, Acute megakaryocytic leukemia, Polycythemia... ORPHA:870
Sweet Syndrome
Anemia, Acute myeloid leukemia, Chronic lymphatic leukemia, Sterile abscess, Leukocytosis, Breast... ORPHA:3243
Niemann-Pick Disease, Type A
Hepatomegaly, Sea-blue histiocytosis, Bone-marrow foam cells, Elevated circulating alanine aminot... OMIM:257200
Rothmund-Thomson Syndrome Type 1
Aplastic anemia, Basal cell carcinoma, Anemia, Squamous cell carcinoma, Neoplasm of the skin, Mel... ORPHA:221008
Omenn Syndrome
Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymphocytopenia, T... OMIM:603554
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Lymph node hypoplasia, Splenomegaly, Lymp... OMIM:602450
Sea-Blue Histiocytosis
Hepatomegaly, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis ORPHA:158029
Megalocornea-Intellectual Disability Syndrome
Hypothyroidism, Hypercholesterolemia ORPHA:2479
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, T lymphocytopenia, Hepatosplenomegaly, Lymphopenia, Abnormally low T cell ... OMIM:242700
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus ORPHA:3004
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Delayed puberty, Decreased circulating inhibin B concentration, Abnormal response to human chorio... ORPHA:95699
Polycythemia Vera
Acute leukemia, Leukocytosis, Polycythemia, Splenomegaly, Thrombocytosis, Myelodysplasia ORPHA:729
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Abnormal macrophage morphology, Elevated circulating creatine kinase concentration ORPHA:353
Lymphoproliferative Syndrome 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Hepatosplenomegaly, Splenomegaly OMIM:615122
Neuhauser Syndrome
Primary hypothyroidism, Hypercholesterolemia OMIM:249310
Bloom Syndrome
Squamous cell carcinoma, Lymphoma, Elevated hemoglobin A1c, Type II diabetes mellitus, Cryptorchi... OMIM:210900
Rothmund-Thomson Syndrome Type 2
Aplastic anemia, Basal cell carcinoma, Anemia, Squamous cell carcinoma, Neoplasm of the skin, Lym... ORPHA:221016
Fanconi Anemia, Complementation Group D2
Annular pancreas, Anemia, Pancytopenia, Reticulocytopenia, Hypergonadotropic hypogonadism, Bone m... OMIM:227646
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Autoimmune hemolytic anemia, Abnormal natural killer cell count, Abnormal T cell count, Hypothyro... OMIM:620430
Legius Syndrome
Ovarian neoplasm, Acute monocytic leukemia, Non-small cell lung carcinoma, Desmoid tumors, Nephro... ORPHA:137605
Prader-Willi Syndrome
Hypertriglyceridemia, Delayed puberty, Decreased HDL cholesterol concentration, Hyperinsulinemia,... OMIM:176270
Mosaic Variegated Aneuploidy Syndrome 1
Embryonal rhabdomyosarcoma, Cryptorchidism, Nephroblastoma, Leukemia OMIM:257300
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Pulmonary carcinoid tumor, Hypercholesterolemia, Abnormal intrahepatic bile... ORPHA:363618
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hyperinsulinemia, Hepatomegaly, Hyperlipidemia, Hypercholesterolemia, Insulin-resista... OMIM:248370
Cushing Disease
Increased urinary cortisol level, Lymphopenia, Leukocytosis, Adrenal hyperplasia, Pituitary corti... ORPHA:96253
Shwachman-Diamond Syndrome 1
Anemia, Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Thrombocytopenia, Myel... OMIM:260400
Fanconi Anemia, Complementation Group N
Aplastic anemia, Acute myeloid leukemia, Neuroblastoma, Medulloblastoma, Nephroblastoma OMIM:610832
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Adrenal gland agenesis OMIM:611812
Rothmund-Thomson Syndrome
Aplastic anemia, Basal cell carcinoma, Anemia, Squamous cell carcinoma, Neoplasm of the skin, Mel... ORPHA:2909
Alagille Syndrome 1
Hypertriglyceridemia, Cirrhosis, Elevated circulating hepatic transaminase concentration, Hepatoc... OMIM:118450
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Acute leukemia, Rhabdomyosarcoma, T-cell lymphoma, Lymphoma, Glioma,... ORPHA:647
Dyskeratosis Congenita, X-Linked
Anemia, Acute myeloid leukemia, Squamous cell carcinoma, Pancytopenia, Carcinoma, Oropharyngeal s... OMIM:305000
Congenital Factor Xiii Deficiency
Myeloid leukemia ORPHA:331
Cushing Syndrome Due To Ectopic Acth Secretion
Neoplasm of the stomach, Pheochromocytoma, Adrenal hyperplasia, Pulmonary carcinoid tumor, Lympho... ORPHA:99889
Mosaic Variegated Aneuploidy Syndrome
Rhabdomyosarcoma, Intestinal polyposis, Stomach cancer, Vaginal neoplasm, Hypothyroidism, Acute l... ORPHA:1052
Chédiak-Higashi Syndrome
Hypertriglyceridemia, Decreased liver function, Jaundice, Elevated circulating hepatic transamina... ORPHA:167
Idiopathic Hypereosinophilic Syndrome
Anemia, Thrombocytosis, Myeloproliferative disorder, Leukocytosis, Neutrophilia, Hepatosplenomega... ORPHA:3260
Diamond-Blackfan Anemia
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... ORPHA:124
Dubowitz Syndrome
Abnormality of neutrophils, Hypoparathyroidism, Anemia, Lymphoma, Acute lymphoblastic leukemia, T... ORPHA:235
Immunodeficiency 9
Hypoplasia of the thymus, Abnormal natural killer cell count, Lymphopenia OMIM:612782
17Q11 Microdeletion Syndrome
Delayed puberty, Rhabdomyosarcoma, Multiple mucosal neuromas, Pheochromocytoma, Gastrointestinal ... ORPHA:97685
Chediak-Higashi Syndrome
Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Leukopenia, Splenomegaly, Impaired neutrophil b... OMIM:214500
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Autoimmune hemolytic anemia, T-cell lymphoma, Impaired lymphocyte transformation with phytohemagg... OMIM:243150
Niemann-Pick Disease, Type C1
Hepatomegaly, Sea-blue histiocytosis, Bone-marrow foam cells, Prolonged neonatal jaundice, Spleno... OMIM:257220
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Aplasia of the thymus, A... OMIM:102700
Simple Cryoglobulinemia
Monoclonal immunoglobulin M proteinemia, B-cell lymphoma, Multiple myeloma, Chronic lymphatic leu... ORPHA:91139
Autoimmune Polyendocrinopathy Type 3
Aplasia/Hypoplasia of the spleen, Central diabetes insipidus, Non-caseating epithelioid cell gran... ORPHA:227982
H Syndrome
Hypertriglyceridemia, Delayed puberty, Decreased testicular size, Hepatosplenomegaly, Hypogonadis... ORPHA:168569
Juvenile Xanthogranuloma
Myeloproliferative disorder ORPHA:158000
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Chalazion, Epicanthus OMIM:613355
Noonan Syndrome 2
Acute lymphoblastic leukemia, Cryptorchidism, Leukemia OMIM:605275
Dubowitz Syndrome
Aplastic anemia, Lymphoma, Neuroblastoma, Acute lymphoblastic leukemia, Cryptorchidism OMIM:223370
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia, Cryptorchidism, Hepatosplenomegaly, Splenomegaly OMIM:613563
Autoimmune Polyendocrinopathy Type 4
Aplasia/Hypoplasia of the spleen, Central diabetes insipidus, Non-caseating epithelioid cell gran... ORPHA:227990
Graft Versus Host Disease
Jaundice, Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Acute hepati... ORPHA:39812
Cryptococcosis
Lymphoid leukemia, Mediastinal lymphadenopathy, Neoplasm ORPHA:1546
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Hepatosplenomegaly, Hemophagocytosis ORPHA:86884
Oculocerebrorenal Syndrome Of Lowe
Delayed puberty, Abnormal circulating calcium-phosphate regulating hormone concentration, Anemia,... ORPHA:534
Schinzel-Giedion Syndrome
Annular pancreas, Teratoma, Ependymoma, Central hypothyroidism, Hepatoblastoma, Nephroblastoma, S... ORPHA:798
Rubinstein-Taybi Syndrome 1
Hepatic hemangioma, Accessory spleen, Capillary hemangioma, Bilateral cryptorchidism, Premature t... OMIM:180849
Biliary, Renal, Neurologic, And Skeletal Syndrome
Intrahepatic bile duct dilatation, Cholestasis, Biliary cirrhosis, Prolonged neonatal jaundice, S... OMIM:619534
Niemann-Pick Disease, Type C2
Jaundice, Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundi... OMIM:607625
Steinert Myotonic Dystrophy
Abnormality of thyroid physiology, Hyperinsulinemia, Elevated circulating hepatic transaminase co... ORPHA:273
Ellis Van Creveld Syndrome
Acute leukemia, Cryptorchidism ORPHA:289
Lysinuric Protein Intolerance
Hepatomegaly, Pancreatitis, Hemophagocytosis, Anemia, Hyperammonemia, Leukopenia, Splenomegaly, T... OMIM:222700
Down Syndrome
Hypothyroidism, Myeloproliferative disorder, Acute megakaryocytic leukemia OMIM:190685
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus ORPHA:40366
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Perianal abscess, Anemia, Erythroid hypoplasia, Monocytosis, Hypoplasia of the thymus, Leukopenia... OMIM:612541
Noonan Syndrome
Juvenile myelomonocytic leukemia, Abnormality of the lymphatic system, Delayed menarche, Abnormal... ORPHA:648
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Lymphoma, Leukemia ORPHA:2526
Acrokeratoelastoidosis Of Costa
Granulomatosis ORPHA:38
Chronic Visceral Acid Sphingomyelinase Deficiency
Delayed puberty, Cholelithiasis, Acute promyelocytic leukemia, Thrombocytopenia, Splenomegaly, De... ORPHA:77293
Aicardi-Goutières Syndrome
Chronic lymphatic leukemia, Neonatal alloimmune thrombocytopenia, Enchondroma, Hypothyroidism, He... ORPHA:51
Noonan Syndrome 3
Juvenile myelomonocytic leukemia, Cryptorchidism OMIM:609942
Tetraamelia Syndrome 1
Asplenia, Adrenal gland agenesis OMIM:273395
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Acute lymphoblastic leukemia, Hypoplastic nipples, Hydrocele testis OMIM:280000
Poland Syndrome
Acute leukemia, Retinal hamartoma, Cryptorchidism, Neoplasm of the breast, Diabetes mellitus ORPHA:2911
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Liver abscess, Rectal abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Liver abscess, Rectal abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis OMIM:233710
T-Cell Immunodeficiency With Thymic Aplasia
Lymphadenopathy, Thyroiditis, Decreased proportion of naive T cells, T lymphocytopenia, Hypothyro... ORPHA:83471
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cryptorchidism, Hypoplasia of the thymus OMIM:214110
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Liver abscess, Rectal abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis OMIM:233690
Gm1-Gangliosidosis, Type Ii
Hepatomegaly, Splenomegaly, Sea-blue histiocytosis OMIM:230600
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Type I diabetes mellitus, Hypercholesterolemia, Recurrent pancreatitis OMIM:606721
Chime Syndrome
Acute leukemia ORPHA:3474
Monosomy 22
Hypochromic microcytic anemia, Sarcoma, Meningioma, Hepatosplenomegaly, Gonadal neoplasm, Schwann... ORPHA:96123
Hydrolethalus Syndrome 1
Adrenal gland dysgenesis, Accessory spleen OMIM:236680
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Decreased response to growth hormone stimulation test, Hypoparathyroidism, Abnormal B cell morpho... OMIM:618223
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Hepatomegaly, Pancreatic hypoplasia, Hyper... OMIM:602782
Lowe Oculocerebrorenal Syndrome
Bicarbonaturia, Elevated circulating creatine kinase concentration, Elevated amniotic fluid alpha... OMIM:309000
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Rectal abscess, Peritoneal abscess, Hypoplasia of the thymus, Hashim... ORPHA:436252
Chronic Thromboembolic Pulmonary Hypertension
Myeloproliferative disorder, Neoplasm ORPHA:70591
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Liver abscess, Rectal abscess, Granuloma, Splenomegaly, Impaired oxidative burst, G... OMIM:306400
Lethal Congenital Contracture Syndrome 10
Hypoplasia of the thymus OMIM:617022
Homozygous Familial Hypercholesterolemia
Hepatic steatosis, Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia ORPHA:391665
Listeriosis
Jaundice, Liver abscess, Splenic abscess, Abnormal cellular immune system morphology, Abscess, Pe... ORPHA:533
Leukocyte Adhesion Deficiency
Perianal abscess, Acute myeloid leukemia, Recurrent tonsillitis, Leukocytosis, Abnormality of neu... ORPHA:2968
Doors Syndrome
Adrenal hyperplasia, Thrombocytosis, Congenital hypothyroidism ORPHA:79500
Syndromic Diarrhea
Hypoplasia of the thymus, Hypothyroidism, Increased mean platelet volume, Splenomegaly, Lymphopen... ORPHA:84064
Noonan Syndrome 1
Juvenile myelomonocytic leukemia, Amegakaryocytic thrombocytopenia, Hypogonadism, Neurofibrosarco... OMIM:163950
Cutis Laxa, Autosomal Recessive, Type Ic
Adrenal hypoplasia, Hypoplasia of the thymus, Accessory spleen OMIM:613177
Treacher-Collins Syndrome
Abnormality of the adrenal glands, Thyroid hypoplasia, Hypoplasia of the thymus, Multiple enchond... ORPHA:861
Sotos Syndrome
Small cell lung carcinoma, Cholesteatoma, Hypothyroidism, Neuroblastoma, Acute lymphoblastic leuk... ORPHA:821
Eec Syndrome
Lymphoma, Decreased response to growth hormone stimulation test, Hypoplasia of the thymus, Anteri... ORPHA:1896
Granulomatosis With Polyangiitis
Pancreatitis, Elevated circulating C-reactive protein concentration, Diabetes insipidus, Abnormal... ORPHA:900
Fraser Syndrome 2
Hypoplasia of the thymus OMIM:617666
Digeorge Syndrome
Anemia, Cholelithiasis, Hypoplasia of the thymus, Hypothyroidism, Parathyroid hypoplasia, Ovarian... OMIM:188400
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Cholelithiasis, Abnormality of the tonsils, Hypoplasia of the thymus, Hypothy... ORPHA:567
Granulomatosis With Polyangiitis
Granulomatosis OMIM:608710
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Hypoplastic nipples, Thyroid hypoplasia, Absent nipple, Congenital hypothyroidism, Hypothyroidism... OMIM:620186
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Lymphangioma, Acute myelomonocytic leukemia, Multiple enchondromatosis, Cavernous hemangioma of t... ORPHA:99646
Truncus Arteriosus
Adrenocortical abnormality, Hypoplasia of the thymus ORPHA:3384
Wiedemann-Rautenstrauch Syndrome
Cryptorchidism, Hypoplasia of the thymus, Increased serum testosterone level 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.

Order Mouse and ES Cells

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

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

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