Gene Summary

Name:
N(alpha)-acetyltransferase 38, NatC auxiliary subunit
Synonyms:
1500034E06Rik,  Lsmd1

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
hydrometra Naa38em1(IMPC)Ccpcz HET Early adult 0.00
preweaning lethality, complete penetrance Naa38em1(IMPC)Ccpcz HOM   Early adult 0.00
enlarged lymph nodes Naa38em1(IMPC)Ccpcz HET Early adult 0.00
enlarged heart Naa38em1(IMPC)Ccpcz HET Early adult 0.00
decreased body weight Naa38em1(IMPC)Ccpcz HET Early adult 3.27×10-07
urinary bladder obstruction Naa38em1(IMPC)Ccpcz HET Early adult 0.00
abnormal urinary bladder morphology Naa38em1(IMPC)Ccpcz HET Early adult 0.00
abnormal lymph node morphology Naa38em1(IMPC)Ccpcz HET Early adult 0.00
abnormal uterus morphology Naa38em1(IMPC)Ccpcz HET Early adult 0.00
abnormal heart morphology Naa38em1(IMPC)Ccpcz HET Early adult 0.00
enlarged thymus Naa38em1(IMPC)Ccpcz HET Early adult 0.00
embryonic lethality prior to tooth bud stage Naa38em1(IMPC)Ccpcz HOM   E12.5 0.00
abnormal thymus morphology Naa38em1(IMPC)Ccpcz HET Early adult 0.00

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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.

X-ray

XRay Images Forepaw

16 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

X-ray

XRay Images Hind Leg and Hip

32 Images

X-ray

XRay Images Whole Body Dorso Ventral

32 Images

X-ray

XRay Images Skull Lateral Orientation

16 Images

Human diseases caused by Naa38 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 Naa38 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hepatic Venoocclusive Disease With Immunodeficiency
Endocardial fibrosis, Absence of lymph node germinal center OMIM:235550
Mantle Cell Lymphoma
Weight loss, Lymphadenopathy, Splenomegaly ORPHA:52416
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia ORPHA:60026
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Anemia, Lymphadenopathy OMIM:312500
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Hepatomegaly, Failure to thrive, Splenomegaly, Lymphadenopathy OMIM:618495
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
T lymphocytopenia, Failure to thrive secondary to recurrent infections, Hepatomegaly, Splenomegal... OMIM:608971
Ethanolaminosis
Cardiomegaly OMIM:227150
Apolipoprotein A-I Deficiency
Lymphadenopathy, Anemia, Splenomegaly ORPHA:425
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Failure to thrive, Dilated cardiomyopathy, Lymphadenopathy OMIM:615895
Mu-Heavy Chain Disease
Nephropathy, Weight loss, Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Anemia, S... ORPHA:100024
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Aplasia of the thymus, Lymph node hypoplasia, Genital ulcers, Failure to thrive OMIM:602450
Carcinoma Of Esophagus
Weight loss, Lymphadenopathy, Obesity ORPHA:70482
Mast Cell Sarcoma
Weight loss, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
T-Cell Receptor-Alpha/Beta Deficiency
Failure to thrive, Hypereosinophilia, Lymphadenopathy OMIM:615387
Adenocarcinoma Of The Esophagus
Lymphadenopathy, Obesity ORPHA:99976
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia... OMIM:619126
Kerion Celsi
Lymphadenopathy ORPHA:499
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Weight loss, Lymphadenopathy, Splenomegaly ORPHA:86893
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Splenome... ORPHA:444463
Alpha-Heavy Chain Disease
Hepatomegaly, Anemia, Splenomegaly, Premature ovarian insufficiency, Lymphadenopathy ORPHA:100025
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Lymphopenia, Increased proportion ... OMIM:617514
Congenital Toxoplasmosis
Failure to thrive in infancy, Thrombocytopenia, Hepatomegaly, Cardiomegaly, Anemia, Lymphadenopathy ORPHA:858
Hodgkin Lymphoma
Hepatomegaly, Weight loss, Lymphadenopathy, Splenomegaly ORPHA:98293
Follicular Lymphoma
Mediastinal lymphadenopathy, Weight loss, Lymphadenopathy, Splenomegaly ORPHA:545
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:618852
Burkitt Lymphoma
Abnormality of the ovary, Abnormality of the spleen, Abnormality of the lymph nodes, Decreased pr... ORPHA:543
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Failure to thrive in infancy, B lymphocytop... OMIM:618987
Granulomatous Slack Skin
Acute kidney injury, Nephrocalcinosis, Abnormality of the lymph nodes ORPHA:33111
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimm... OMIM:618534
Desmoplastic Small Round Cell Tumor
Ovarian neoplasm, Weight loss, Hepatomegaly, Cachexia, Anemia, Testicular neoplasm, Mediastinal l... ORPHA:83469
Lcat Deficiency
Hemolytic anemia, Hematuria, Hepatomegaly, Splenomegaly, Renal insufficiency, Lymphadenopathy, Pr... ORPHA:650
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Chronic noninfectious lymphadenopathy, Weight loss ORPHA:100083
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of class-switched memory B cells, Increased proportion autoreactive unrespon... OMIM:615559
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Hepatomegaly, Splenomegaly, Cardiomegaly, Failure to thrive, Nephrotic sy... OMIM:269920
Cardiac-Urogenital Syndrome
Cryptorchidism, Ambiguous genitalia, Scimitar anomaly, Accessory spleen, Atrial septal defect, Bi... OMIM:618280
Kimura Disease
Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Pfapa Syndrome
Hepatomegaly, Weight loss, Lymphadenopathy, Splenomegaly ORPHA:42642
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Urogenital sinus anomaly, Vanishing testis, Abnor... OMIM:273250
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Absent testis, Abnormality... ORPHA:983
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Goiter, Abnormality of the lymph nodes, Nodular goiter ORPHA:97290
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Neutropenia, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Lymphadenopathy OMIM:603552
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Weight loss, Histiocytosis, Anemia, Splenomegaly, Enlarged mesenter... OMIM:209950
Diethylstilbestrol Syndrome
Cryptorchidism, Abnormality of the uterus, Abnormal reproductive system morphology, Abnormal test... ORPHA:1916
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Lymphadenopathy OMIM:608106
46,Xy Sex Reversal 3
Ambiguous genitalia, Elevated circulating luteinizing hormone level, Exaggerated rugosity of the ... OMIM:612965
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Goiter, Abnormality of the lymph nodes, Nodular goiter ORPHA:319487
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:619164
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal testis morphology, Weight loss, Anemia, Neutrophilia, Abnormality of the lymphatic syste... ORPHA:54251
Leydig Cell Hypoplasia
Cryptorchidism, Hyoplasia of the Leydig cells, Increased circulating gonadotropin level, Male hyp... ORPHA:755
Attrv30M Amyloidosis
Abnormal renal physiology, Weight loss, Nephropathy, Cardiomegaly, Cardiomyopathy ORPHA:85447
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, T lymphocytopenia, Lymphopenia, B lymphocytopenia, Failure to thrive, Absence of ... ORPHA:277
Ovarian Dysgenesis 2
Gonadal hypoplasia, Abnormality of the uterus, Hypergonadotropic hypogonadism, Hypoplasia of the ... OMIM:300510
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased proportion of... OMIM:615513
Omenn Syndrome
Severe B lymphocytopenia, Thrombocytopenia, Hypoplasia of the thymus, Hepatomegaly, Eosinophilia,... OMIM:603554
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutrop... OMIM:619220
Proteasome-Associated Autoinflammatory Syndrome 2
Thrombocytopenia, Failure to thrive, Lymphadenopathy OMIM:618048
Amed Syndrome, Digenic
Hypoplasia of the uterus, Thrombocytopenia, Acute myeloid leukemia, Anemia, Leukopenia, Failure t... OMIM:619151
Immunodeficiency 72 With Autoinflammation
Increased proportion of memory T cells, Hepatosplenomegaly, Lymphadenopathy, Increased B cell count OMIM:618982
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Follicula... OMIM:614470
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Cryptorchidism, Azoospermia, Hypoplasia of the uterus, Hypogonadotropic hypogonadism, Decreased t... OMIM:614837
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Autoimmu... OMIM:619375
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Thrombocytopenia, Anemia, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy OMIM:613101
Pleural Mesothelioma
Hepatomegaly, Weight loss, Lymphadenopathy ORPHA:50251
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Autoimmune thrombocytopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD4:C... OMIM:300853
Immunodeficiency 54
Adrenocorticotropic hormone excess, Reduced natural killer cell count, Hepatomegaly, Failure to t... OMIM:609981
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegal... OMIM:612840
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Cardiomegaly OMIM:300886
Pseudo-Torch Syndrome 3
Acute kidney injury, Lymphadenitis, Leukocytosis, Congenital thrombocytopenia, Cardiomegaly, Anem... OMIM:618886
Neuraminidase Deficiency
Bone-marrow foam cells, Vacuolated lymphocytes, Hepatomegaly, Urinary excretion of sialylated oli... OMIM:256550
Acquired Hypertrichosis Lanuginosa
Weight loss, Ovarian neoplasm, Lymphadenopathy ORPHA:2221
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Lymphad... ORPHA:911
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Obesity ORPHA:88643
Leishmaniasis
Abnormal macrophage morphology, Weight loss, Pancytopenia, Thrombocytopenia, Hepatomegaly, Spleno... ORPHA:507
Caspase 8 Deficiency
Failure to thrive, Decreased CD4:CD8 ratio, Lymphadenopathy, Splenomegaly OMIM:607271
Classic Hodgkin Lymphoma
Weight loss, Hepatomegaly, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:391
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Immunodeficiency 55
Neutropenia, Lymphadenopathy OMIM:617827
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Meacham Syndrome
Cryptorchidism, Ambiguous genitalia, Crossed fused renal ectopia, Horseshoe kidney, Abnormal vagi... ORPHA:3097
Deafness-Lymphedema-Leukemia Syndrome
Myeloproliferative disorder, Leukocytosis, Weight loss, Thrombocytopenia, Hepatomegaly, Abnormal ... ORPHA:3226
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Gonadal dysgenesis, Cli... OMIM:612964
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Hepatomegaly, Splenomegaly, Abnormal mast cell morpholo... ORPHA:98848
Candidiasis, Familial, 2
Hypereosinophilia, Lymphadenopathy OMIM:212050
Rhabdoid Tumor
Hematuria, Weight loss, Thrombocytopenia, Anemia, Lymphadenopathy ORPHA:69077
46,Xx Ovotesticular Disorder Of Sex Development
Cryptorchidism, Abnormal morphology of female internal genitalia, Ambiguous genitalia, Urogenital... ORPHA:2138
Cold Agglutinin Disease
Abnormal urinary color, Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:56425
Schnitzler Syndrome
Leukocytosis, Hepatomegaly, Anemia, Splenomegaly, Lymphadenopathy ORPHA:37748
Hemochromatosis, Type 1
Azoospermia, Hepatomegaly, Testicular atrophy, Cardiomegaly, Splenomegaly, Hypogonadotropic hypog... OMIM:235200
Pseudomyxoma Peritonei
Weight loss, Lymphadenopathy ORPHA:26790
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Cryptorchidism, Abnormality of the uterus, Abnormal vagina morphology, Gonadoblastoma, Streak ova... OMIM:194072
Classic Mycosis Fungoides
Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy, Splenomegaly ORPHA:2584
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Nephrotic syndrome, Cardiomyopathy OMIM:617713
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Lymph node hypoplasia, Decreased proportion of CD4-positive helper T cells, Abnor... ORPHA:276
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Hepatomegaly, Splenomegaly, Cardiomegaly, Heparan sulfate excretio... OMIM:252920
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Horseshoe kidney, Renal hypoplasia, Anteriorly displaced urethral meatus, Aplas... OMIM:266810
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Horseshoe kidney, Single ventricle, Ventricular septal defect, Mitral atres... OMIM:306955
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormal heart morphology, Unilateral renal agenesis, Septate vagina, Vaginal atresia, Vesicouret... ORPHA:2237
Immunodeficiency, Common Variable, 2
Hepatomegaly, Follicular hyperplasia, Lymphadenopathy, Splenomegaly OMIM:240500
Nephroblastoma
Weight loss, Hematuria, Lymphadenopathy ORPHA:654
Thymic Neuroendocrine Tumor
Pituitary prolactin cell adenoma, Chronic noninfectious lymphadenopathy, Neoplasm of the thymus, ... ORPHA:97289
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ... OMIM:607594
Premature Ovarian Failure 3
Hypoplasia of the uterus, Premature ovarian insufficiency OMIM:608996
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia OMIM:608184
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:601859
Partial Androgen Insensitivity Syndrome
Ambiguous genitalia, Elevated circulating luteinizing hormone level, Urogenital sinus anomaly, Ap... ORPHA:90797
Primary Myelofibrosis
Poikilocytosis, Thrombocytosis, Leukocytosis, Extramedullary hematopoiesis, Pancytopenia, Thrombo... ORPHA:824
Lymphoproliferative Syndrome 1
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased proportion of CD4-positive he... OMIM:613011
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomega... OMIM:150550
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Male hypogonadism, Increased circulating gonadotropin level, Abnormal vagina morphology, Gonadobl... ORPHA:168563
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Elevated circulating luteinizing hormone level,... ORPHA:99429
Roifman Syndrome
Noncompaction cardiomyopathy, Lymphadenopathy, Hypogonadotropic hypogonadism, Hepatosplenomegaly,... ORPHA:353298
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center, Neutropenia OMIM:606843
Lymphoproliferative Syndrome 2
Hemophagocytosis, Pancytopenia, Hepatomegaly, Aplastic anemia, Splenomegaly, Hepatosplenomegaly, ... OMIM:615122
Omenn Syndrome
Leukocytosis, Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly, Nephrotic syndrome, ... ORPHA:39041
Castleman Disease
Ureteral obstruction, Hematuria, Restrictive cardiomyopathy, Generalized lymphadenopathy, Follicu... ORPHA:160
Hypoparathyroidism, Sensorineural Deafness, And Renal Disease
Hematuria, Aplasia of the vagina, Distal renal tubular acidosis, Septate vagina, Proximal renal t... OMIM:146255
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Lymphadenopathy, Splenomegaly OMIM:611762
Medullary Thyroid Carcinoma
Pheochromocytoma, Weight loss, Primary hyperparathyroidism, Nodular goiter, Lymphadenopathy ORPHA:1332
Microphthalmia, Syndromic 9
Cryptorchidism, Atrial septal defect, Horseshoe kidney, Single ventricle, Truncus arteriosus, Ven... OMIM:601186
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Aplas... OMIM:308240
Sickle Cell Anemia
Hemolytic anemia, Hematuria, Leukocytosis, Cholelithiasis, Hepatomegaly, Increased red cell sickl... OMIM:603903
Fish-Eye Disease
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:79292
Roifman Syndrome
Noncompaction cardiomyopathy, Ventricular septal defect, Lymphadenopathy, Hepatomegaly, Splenomeg... OMIM:616651
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Ovarian cyst, Elevated circulating luteinizing hormone level, Increased circulating gonadotropin ... ORPHA:90793
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Bilateral cryptorchidism, Cardiomegaly, Patent f... OMIM:618652
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Pericarditis, Lymphadenopathy, Splenomegaly ORPHA:85414
Carnitine Deficiency, Systemic Primary
Endocardial fibroelastosis, Hepatomegaly, Cardiomegaly, Failure to thrive, Hypertrophic cardiomyo... OMIM:212140
Klatskin Tumor
Hepatomegaly, Weight loss, Lymphadenopathy ORPHA:99978
Histiocytosis-Lymphadenopathy Plus Syndrome
Atrial septal defect, Azoospermia, Ventricular septal defect, Hypergonadotropic hypogonadism, Dec... OMIM:602782
Purine Nucleoside Phosphorylase Deficiency
Pure red cell aplasia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymph node hypop... OMIM:613179
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Weight loss, Lymphadenopathy ORPHA:411703
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Decreased mean platelet volume, Thrombocytopenia, Failure to thrive, Lymphadenopathy OMIM:617718
Felty Syndrome
Pericarditis, Abnormal lymphocyte morphology, Neutropenia, Weight loss, Thrombocytopenia, Hepatom... ORPHA:47612
Agammaglobulinemia, X-Linked
Prostatitis, Cor pulmonale, Lymph node hypoplasia, Epididymitis OMIM:300755
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Autoimmune thromb... ORPHA:169154
Androgen Insensitivity Syndrome
Cryptorchidism, Abnormal morphology of female internal genitalia, Abnormality of the uterus, Ambi... ORPHA:754
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis, Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian tube, Aplas... OMIM:158330
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly, Failure to thrive in infancy OMIM:619064
Griscelli Syndrome Type 2
Hemophagocytosis, Neutropenia, Pancytopenia, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79477
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Testicular Agenesis
Urethrovaginal fistula, Ambiguous genitalia, Increased circulating gonadotropin level, Absent tes... ORPHA:325124
Cinca Syndrome
Leukocytosis, Lymphadenopathy, Anemia, Hepatosplenomegaly, Eosinophilia OMIM:607115
Isolated Anencephaly
Thymus hyperplasia ORPHA:563609
Lig4 Syndrome
Cryptorchidism, Leukocytosis, Pancytopenia, Hepatomegaly, Hypoplasia of penis, Acute leukemia, Ly... ORPHA:99812
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Cryptorchidism, Hypoplasia of the uterus, Hypogonadotropic hypogonadism, Decreased testicular siz... OMIM:614841
Tularemia
Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Lymphadenopathy, Thrombocytopenia, Anem... ORPHA:3392
Aggressive Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Leukocytosis, Neutropenia, Weight loss, Pancytopenia, T... ORPHA:98850
Acute Monoblastic/Monocytic Leukemia
Lymphocytosis, Hypochromic anemia, Acute monocytic leukemia, Leukocytosis, Weight loss, Oliguria,... ORPHA:514
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent tonsillitis, Hemolytic anemia, Lymphadenitis, Lymphopenia, Impaired oxidative burst, Ne... OMIM:618935
Lumbar Syndrome
Cryptorchidism, Ambiguous genitalia, Bifid uterus, Bifid scrotum, Hypoplastic labia majora, Vesic... ORPHA:83628
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Streak ovary, Elevated ... OMIM:612310
Premature Ovarian Failure 18
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Hypoplasia of the ovary... OMIM:619203
Anaplastic Thyroid Carcinoma
Weight loss, Goiter, Lymphadenopathy, Nodular goiter ORPHA:142
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve leaflet morphology, Anomalous pulmonary venous return, Pericardial effus... ORPHA:555874
American Trypanosomiasis
Lymphadenopathy, Hepatomegaly, Splenomegaly, Myocarditis, Cardiomyopathy ORPHA:3386
Scrub Typhus
Renal insufficiency, Myocarditis, Lymphadenopathy, Splenomegaly ORPHA:83317
Gaucher Disease, Type Iiic
Mitral valve calcification, Pancytopenia, Hepatomegaly, Cardiomegaly, Mitral stenosis, Splenomega... OMIM:231005
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Perrault Syndrome 6
Premature ovarian insufficiency, Hypoplasia of the uterus, Streak ovary OMIM:617565
Symptomatic Form Of Hemochromatosis Type 1
Weight loss, Hepatomegaly, Testicular atrophy, Cardiomegaly, Splenomegaly, Hypogonadotropic hypog... ORPHA:465508
Lethal Congenital Contracture Syndrome 10
Hypoplasia of the thymus, Overriding aorta, Cardiomegaly, Ventricular septal defect OMIM:617022
Proteus-Like Syndrome
Thymus hyperplasia, Abnormality of the parathyroid gland, Splenomegaly, Polycystic ovaries ORPHA:2969
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Lymphadenopathy, Thro... OMIM:304790
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Thymoma
Hemolytic anemia, Pericarditis, Abnormal lymphocyte morphology, Neoplasm of the thymus, Pancytope... ORPHA:99867
Hypocomplementemic Urticarial Vasculitis
Hematuria, Abnormal heart valve morphology, Pericardial effusion, Hepatomegaly, Splenomegaly, Ren... ORPHA:36412
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Small for gestational age, Cardiomegaly, Hydronephrosis, Hypospadias, ... OMIM:616897
Niemann-Pick Disease, Type A
Bone-marrow foam cells, Microcytic anemia, Sea-blue histiocytosis, Hepatomegaly, Failure to thriv... OMIM:257200
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Unilateral renal agenesis, Bicornuate uterus, Ectopic kidney OMIM:601076
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Perrault Syndrome 4
Increased circulating gonadotropin level, Hypoplasia of the uterus, Bicornuate uterus, Hypoplasia... OMIM:615300
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Cryptorchidism, Elevated circulating luteinizing hormone level, Midshaft hypospadias, Abnormality... ORPHA:168558
Legionnaires Disease
Hematuria, Pericarditis, Endocarditis, Myocarditis, Lymphopenia, Splenomegaly, Renal insufficienc... ORPHA:549
Drug Rash With Eosinophilia And Systemic Symptoms
Lymphocytosis, Weight loss, Lymphadenopathy, Tubulointerstitial nephritis, Nephrotic syndrome, Re... ORPHA:139402
Boutonneuse Fever
Lymphadenopathy, Thrombocytopenia, Leukopenia, Renal insufficiency, Cervical lymphadenopathy ORPHA:83313
Griscelli Syndrome
Abnormality of neutrophils, Thrombocytopenia, Hepatomegaly, Leukopenia, Splenomegaly, Bone marrow... ORPHA:381
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy OMIM:612783
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Cryptorchidism, Elevated circulating luteinizing hormone level, Midshaft hypospadias, Abnormality... ORPHA:289548
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism, Abnormal atrioventricular valve morphology, Aortic valve stenosis, Cardiomegaly, ... ORPHA:324410
Adult-Onset Still Disease
Pericarditis, Leukocytosis, Myocarditis, Generalized lymphadenopathy, Hepatomegaly, Splenomegaly,... ORPHA:829
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cachexia, Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, Cardiomegaly ORPHA:42
Alpha-N-Acetylgalactosaminidase Deficiency
Oligosacchariduria, Cardiomegaly ORPHA:3137
Mulibrey Nanism
Hepatomegaly, Pericardial constriction, Myocardial fibrosis, Cardiomegaly OMIM:253250
Cantu Syndrome
Pericardial effusion, Congenital hypertrophy of left ventricle, Cardiomegaly, Bicuspid aortic val... OMIM:239850
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Neutropenia, Enlarged tonsils, Thrombocytopenia, Hepatomegaly, Failure to thriv... OMIM:308230
Gamma-Heavy Chain Disease
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal lymphocyte morphology, Thrombo... ORPHA:100026
Timothy Syndrome
Patent foramen ovale, Tetralogy of Fallot, Cardiomegaly, Ventricular septal defect OMIM:601005
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Kaposi Sarcoma
Abnormality of the spleen, Generalized lymphadenopathy, Weight loss ORPHA:33276
Mevalonic Aciduria
Fluctuating hepatomegaly, Leukocytosis, Failure to thrive in infancy, Thrombocytopenia, Elevated ... OMIM:610377
Normosmic Congenital Hypogonadotropic Hypogonadism
Cryptorchidism, Male hypogonadism, Azoospermia, Eunuchoid habitus, Breast hypoplasia, Non-obstruc... ORPHA:432
Sézary Syndrome
Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy, Splenomegaly ORPHA:3162
Lymphatic Filariasis
Hydrocele testis, Epididymitis, Hematuria, Urethral obstruction, Abnormality of the scrotum, Lymp... ORPHA:2035
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD2... OMIM:606367
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Lymphadenopathy, Proteinuria ORPHA:69126
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Leukocytosis, Chronic lymphatic leukemia, Weight loss, Lymphadenopathy, Thrombo... ORPHA:98849
Thrombocytopenia-Absent Radius Syndrome
Horseshoe kidney, Thrombocytopenia, Tetralogy of Fallot, Abnormal cardiac septum morphology, Apla... ORPHA:3320
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Decreased proportion of memory B cells, Abnormal natural killer cell count, Fa... ORPHA:79124
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly OMIM:619183
Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatomegaly, Splenomegaly... OMIM:616100
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Pericardial effusion, Hepatomegaly, Cardiomegaly, Ventricular septal hyp... OMIM:115197
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
T lymphocytopenia, Monocytopenia, Lymphadenitis, Lymphopenia, Abnormally low T cell receptor exci... OMIM:618986
Familial Pancreatic Carcinoma
Weight loss, Lymphadenopathy, Ovarian carcinoma, Hepatosplenomegaly, Pancreatic adenocarcinoma ORPHA:1333
Familial Atrial Myxoma
Pulmonic valve myxoma, Cardiomegaly, Cardiac myxoma, Bacterial endocarditis ORPHA:615
Mixed Connective Tissue Disease
Hemolytic anemia, Pericarditis, Nephropathy, Hepatomegaly, Leukopenia, Splenomegaly, Mediastinal ... ORPHA:809
Acute Promyelocytic Leukemia
Hematuria, Leukocytosis, Neutropenia, Weight loss, Pancytopenia, Thrombocytopenia, Anemia, Leukop... ORPHA:520
Cinca Syndrome
Abnormality of neutrophils, Leukocytosis, Abnormal granulocyte morphology, Hepatomegaly, Anemia, ... ORPHA:1451
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
46,Xy Sex Reversal 7
Gonadoblastoma, Sex reversal, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Streak ... OMIM:233420
Thyroid Lymphoma
Goiter, Lymphadenopathy ORPHA:97285
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Failure to thrive, Lymphadenop... OMIM:617591
Poems Syndrome
Thrombocytosis, Polycythemia, Pericardial effusion, Visceromegaly, Weight loss, Increased circula... ORPHA:2905
Pediatric Systemic Lupus Erythematosus
Microangiopathic hemolytic anemia, Hematuria, Lymphopenia, Dark urine, Pericardial effusion, Thro... ORPHA:93552
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
46,Xx Sex Reversal 2
Ovotestis, Azoospermia, Bifid scrotum, Sex reversal, Scrotal hypoplasia, Hypoplasia of the uterus... OMIM:278850
Mayer-Rokitansky-Küster-Hauser Syndrome
Horseshoe kidney, Unilateral renal agenesis, Hypoplasia of the vagina, Ectopic kidney, Aplasia of... ORPHA:3109
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Q Fever
Hematuria, Pericarditis, Endocarditis, Abnormal heart valve morphology, Pericardial effusion, Wei... ORPHA:781
Refsum Disease, Classic
Abnormal renal physiology, Cardiomegaly, Cardiomyopathy OMIM:266500
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Hydatidiform Mole
Enlarged uterus, Anemia ORPHA:99927
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Hypoplasia of the uterus, Abnormal vagina morphology, Obesity ORPHA:247768
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Autoimmune he... OMIM:614700
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Elliptocytosis, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomega... OMIM:618278
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Abnormal pulmonary valve cusp morphology, Chronic noninfectious lymphadenopathy, We... ORPHA:100080
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614129
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly OMIM:600649
Gaucher Disease, Perinatal Lethal
Decreased body weight, Thrombocytopenia, Hepatomegaly, Cardiomegaly, Anemia, Splenomegaly, Hepato... OMIM:608013
Cyclic Neutropenia
Recurrent tonsillitis, Decreased eosinophil count, Lymphopenia, Lymphadenopathy, Thrombocytopenia... ORPHA:2686
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Fucosidosis
Vacuolated lymphocytes, Oligosacchariduria, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:230000
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Cryptorchidism, Elevated circulating luteinizing hormone level, Ambiguous genitalia, male, Hyperg... ORPHA:90796
Pancreatoblastoma
Pancreatic calcification, Abnormality of the lymph nodes, Weight loss ORPHA:677
Danon Disease
Myocardial fibrosis, Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Hypertrophic card... OMIM:300257
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Anemia OMIM:618838
Lymphangioleiomyomatosis
Abnormal morphology of female internal genitalia, Multiple renal cysts, Hematuria, Abnormal urina... ORPHA:538
Carnitine Palmitoyltransferase I Deficiency
Renal tubular acidosis, Cardiomegaly, Hepatomegaly OMIM:255120
Aregenerative Anemia
Erythroid hypoplasia, Decreased proportion of CD4-positive helper T cells, Neutropenia, Reticuloc... ORPHA:101096
Pagod Syndrome
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Abnormality of the uterus,... ORPHA:991
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Small for gestational age, Cardiomegaly OMIM:613320
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Failure to thrive in infancy, Increased proportion of CD4-positive T cells, Neutrop... OMIM:617099
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:169090
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent peripheral lymph nodes in presence of infection, T lymphocytopenia, Absent natural killer ... OMIM:600802
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:619051
Familial Hemophagocytic Lymphohistiocytosis
Abnormal renal physiology, Hemophagocytosis, Neutropenia, Thrombocytopenia, Hepatomegaly, Anemia,... ORPHA:540
Sandhoff Disease
Urinary incontinence, Hepatosplenomegaly, Cardiomegaly, Hepatomegaly OMIM:268800
Amyloidosis, Hereditary, Transthyretin-Related
Urinary incontinence, Cardiomegaly, Cardiomyopathy OMIM:105210
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hemophagocytosis, Thrombocytopenia, Hepatomegaly, Splenomegaly, Anemia, Leukopenia, Failure to th... OMIM:267700
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Long penis, Clitoral hypertrophy, Precocious puberty in males, Hypoplasia of the uterus, Congenit... OMIM:202010
Kikuchi-Fujimoto Disease
Lymphocytosis, Generalized lymphadenopathy, Neutropenia, Weight loss, Thrombocytopenia, Enlargeme... ORPHA:50918
Melkersson-Rosenthal Syndrome
Oligosacchariduria, Lymphadenopathy ORPHA:2483
Hsd10 Disease, Infantile Type
Abnormal concentration of acylcarnitine in the urine, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:391428
Fucosidosis
Mucopolysacchariduria, Cardiomegaly, Failure to thrive, Hepatomegaly ORPHA:349
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemophagocytosis, Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Anemia, Leukopenia,... OMIM:603553
Townes-Brocks Syndrome 2
Hypospadias, Bifid uterus, Crossed fused renal ectopia, Rectovaginal fistula OMIM:617466
Oeis Complex
Cryptorchidism, Bifid uterus, Ambiguous genitalia, male, Hydroureter, Ambiguous genitalia, female... OMIM:258040
Exstrophy-Epispadias Complex
Cryptorchidism, Bifid uterus, Horseshoe kidney, Bifid scrotum, Abnormal heart morphology, Renal h... ORPHA:322
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Cardiomegaly, Dicarboxylic aciduria, Exercise-induced myoglobinuria, Hypertrophic c... OMIM:201475
Igg4-Related Kidney Disease
Hematuria, Acute kidney injury, Pericarditis, Urinary bladder inflammation, Weight loss, Chronic ... ORPHA:449395
Bronchial Neuroendocrine Tumor
Elevated circulating growth hormone concentration, Abnormal pulmonary valve cusp morphology, Chro... ORPHA:97287
Glycogen Storage Disease Ii
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:232300
Thrombocytopenia-Absent Radius Syndrome
Atrial septal defect, Horseshoe kidney, Ventricular septal defect, Leukocytosis, Pancreatic cysts... OMIM:274000
H Syndrome
Azoospermia, Microcytic anemia, Enlarged kidney, Histiocytosis, Decreased testicular size, Hypogo... ORPHA:168569
Satoyoshi Syndrome
Abnormality of the ovary, Abnormality of the uterus, Hypoplasia of the uterus, Hypoplasia of the ... ORPHA:3130
Chediak-Higashi Syndrome
Hemophagocytosis, Abnormal dense granules, Impaired neutrophil bactericidal activity, Neutropenia... OMIM:214500
Neuroendocrine Tumor Of The Rectum
Hepatomegaly, Abnormal pulmonary valve cusp morphology, Chronic noninfectious lymphadenopathy, We... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hepatomegaly, Abnormal pulmonary valve cusp morphology, Chronic noninfectious lymphadenopathy, We... ORPHA:100082
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Abnormal proportion of CD4-positive T cells, Reticulocytosis, Decreased proportion... ORPHA:3261
Hyper-Igd Syndrome
Lymphadenitis, Leukocytosis, Renal angiomyolipoma, Elevated urine mevalonic acid, Splenomegaly, N... OMIM:260920
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424019
X-Linked Lymphoproliferative Disease
Lymphocytosis, Pancytopenia, Histiocytosis, Myocarditis, Increased B cell count, Lymphadenopathy,... ORPHA:2442
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Enlarged kidney, Hepatomegaly, Hydronephrosis, Polycystic kidney dysplasi... OMIM:608836
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Lymphopenia, Paratracheal lymphadenopathy, Follicular hyperplasia, Anemia, Leukop... OMIM:615934
Leigh Syndrome With Nephrotic Syndrome
Renal tubular acidosis, Tubulointerstitial nephritis, Renal cyst, Cardiomegaly, Nephrotic syndrom... ORPHA:255249
Kennerknecht Syndrome
Hypoplasia of the uterus, Agonadism, Abdominal obesity OMIM:600908
Brucellosis
Epididymitis, Thrombocytosis, Endocarditis, Pericarditis, Leukocytosis, Orchitis, Abnormal aortic... ORPHA:1304
Beckwith-Wiedemann Syndrome
Cryptorchidism, Renal cortical cysts, Enlarged kidney, Gonadoblastoma, Hepatomegaly, Pancreatic h... OMIM:130650
Ileal Neuroendocrine Tumor
Iron deficiency anemia, Weight loss, Pulmonic stenosis, Tricuspid stenosis, Hydronephrosis, Lymph... ORPHA:100078
Jejunal Neuroendocrine Tumor
Iron deficiency anemia, Weight loss, Pulmonic stenosis, Tricuspid stenosis, Hydronephrosis, Lymph... ORPHA:100077
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Ambiguous genitalia, Urogenital sinus anomaly, Long penis, Premature pubarche, Hypernatriuria, Am... ORPHA:90794
Estrogen Resistance
Hypoplasia of the uterus OMIM:615363
Common Variable Immunodeficiency
Hemolytic anemia, Autoimmune thrombocytopenia, Lymphopenia, Failure to thrive in infancy, Splenom... ORPHA:1572
Complete Atrioventricular Septal Defect
Complete atrioventricular canal defect, Displacement of the papillary muscles, Hepatomegaly, Righ... ORPHA:1329
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Cystic renal dysplasia, Renal tubular epithelial necrosis, Hepatomegaly, Tubuloi... ORPHA:228308
Multiple Myeloma
Acute kidney injury, Nephropathy, Weight loss, Splenomegaly, Anemia, Nephrotic syndrome, Lymphade... ORPHA:29073
Mucolipidosis Ii Alpha/Beta
Mucopolysacchariduria, Hepatomegaly, Cardiomegaly, Failure to thrive, Splenomegaly, Hypertrophic ... OMIM:252500
Chromosome 17Q12 Deletion Syndrome
Cryptorchidism, Ovarian cyst, Renal hypoplasia, Unilateral renal agenesis, Unicornuate uterus, Mu... OMIM:614527
Linear Skin Defects With Multiple Congenital Anomalies 1
Ovotestis, Atrial septal defect, Chordee, Ventricular septal defect, Clitoral hypertrophy, Hypopl... OMIM:309801
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly, Eunuchoid habitus, Abnormality of the thymus ORPHA:2463
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Oligosacchariduria, Hepatomegaly, Cardiomegaly, Failure to thrive, Left ventricular hypertrophy, ... ORPHA:308552
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Lymphadenopathy ORPHA:343
Acute Interstitial Pneumonia
Reduced hematocrit, Lymphadenopathy, Pericardial effusion ORPHA:79126
Okamoto Syndrome
Unilateral renal hypoplasia, Bifid uterus, Abnormal heart morphology, Ventricular septal defect, ... ORPHA:2729
Malt Lymphoma
Mediastinal lymphadenopathy, Weight loss, Anemia, Lymphadenopathy ORPHA:52417
Beckwith-Wiedemann Syndrome
Cryptorchidism, Multiple renal cysts, Enlarged kidney, Pseudohypoparathyroidism, Congenital megau... ORPHA:116
Tangier Disease
Orange discolored tonsils, Coronary artery stenosis, Chronic noninfectious lymphadenopathy, Throm... ORPHA:31150
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Impaired oxidative burst, Hepatomegaly, Splenomegaly, Lymphadenopathy, Granulomatosis OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Impaired oxidative burst, Hepatomegaly, Splenomegaly, Lymphadenopathy, Granulomatosis OMIM:233710
Truncus Arteriosus
Atrial septal defect, Truncus arteriosus, Abnormal heart morphology, Abnormal heart valve morphol... ORPHA:3384
Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome
Urethral atresia, Cryptorchidism, Absent external genitalia, Persistent cloaca, Hydronephrosis, A... ORPHA:94095
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Hypoplasia of the uterus, Enlarged polycystic ovaries, ... ORPHA:785
Lassa Fever
Thrombocytopenia, Leukopenia, Lymphadenopathy ORPHA:99824
Hydrolethalus Syndrome 1
Bifid uterus, Accessory spleen, Abnormal vagina morphology, Adrenal gland dysgenesis, Ventricular... OMIM:236680
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Perimembranous ventricu... ORPHA:1457
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Pericardial effusion, Lymphadenopathy ORPHA:199241
Histiocytoid Cardiomyopathy
Ventricular septal defect, Polycystic ovaries, Hepatomegaly, Renal cyst, Cardiomegaly, Failure to... ORPHA:137675
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Iron deficiency anemia, Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T... ORPHA:37042
Granulomatous Disease, Chronic, X-Linked
Lymphadenitis, Impaired oxidative burst, Hepatomegaly, Splenomegaly, Lymphadenopathy, Granulomatosis OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Impaired oxidative burst, Hepatomegaly, Splenomegaly, Lymphadenopathy, Granulomatosis OMIM:233690
Waldenström Macroglobulinemia
Abnormality of neutrophils, Normocytic anemia, Hepatomegaly, Splenomegaly, Renal insufficiency, L... ORPHA:33226
Renal Cysts And Diabetes Syndrome
Decreased numbers of nephrons, Renal hypoplasia, Unilateral renal agenesis, Hypoplasia of the ute... OMIM:137920
Periodic Fever, Familial, Autosomal Dominant
Hepatomegaly, Cervical lymphadenopathy OMIM:142680
Malakoplakia
Dysuria, Hematuria, Urinary hesitancy, Prostate neoplasm, Urinary bladder inflammation, Orchitis,... ORPHA:556
Paternal Uniparental Disomy Of Chromosome 6
Cryptorchidism, Ventricular septal defect, Hepatomegaly, Cardiomegaly, Labial hypertrophy, Precoc... ORPHA:96191
Familial Mediterranean Fever
Pericarditis, Orchitis, Nephropathy, Splenomegaly, Nephrotic syndrome, Nephrocalcinosis, Lymphade... ORPHA:342
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Thrombocytosis, Leukocytosis, Lymphopenia, Pancytopenia, Hepatomegaly, Splenomegaly, Anemia, Leuk... OMIM:615688
Cutaneous Neuroendocrine Carcinoma
Lymphoid leukemia, Chronic noninfectious lymphadenopathy ORPHA:79140
Graft Versus Host Disease
Hemophagocytosis, Failure to thrive, Hepatosplenomegaly, Lymphadenopathy ORPHA:39812
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina OMIM:277000
Mucopolysaccharidosis Type 3
Recurrent tonsillitis, Abnormal mitral valve morphology, Mucopolysacchariduria, Abnormal aortic v... ORPHA:581
Multiple Endocrine Neoplasia Type 2
Parathyroid hyperplasia, Cervical neoplasm, Pheochromocytoma, Elevated urinary norepinephrine, El... ORPHA:653
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Pericarditis, Leukocytosis, Orchitis, Splenomegaly, Abnormal myocardium morphology, Lymphadenopathy ORPHA:32960
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Urethral atresia, Absent external genitalia, Hydronephrosis, Aplasia of the uterus, Aplasia of th... OMIM:271520
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Cardiomegaly, 3-Methylglutaconic aciduria OMIM:619259
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cryptorchidism, Cardiomegaly OMIM:618143
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Farber Disease
Thrombocytopenia, Failure to thrive, Anemia, Hepatosplenomegaly, Lymphadenopathy ORPHA:333
Igg4-Related Submandibular Gland Disease
Prostatitis, Renal insufficiency, Enlarged lacrimal glands, Sialadenitis, Abnormal salivary gland... ORPHA:449432
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Slender build, Cryptorchidism, Atrial septal defect, Ventricular septal defect, Right ventricular... OMIM:300967
Chédiak-Higashi Syndrome
Increased proportion of CD25+ mast cells, Hemophagocytosis, Vacuolated lymphocytes, Abnormal natu... ORPHA:167
Woodhouse-Sakati Syndrome
Hypergonadotropic hypogonadism, Hypoplasia of the fallopian tube, Elevated circulating thyroid-st... OMIM:241080
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Weight loss, Hepatosplenomegaly, Anemia, Lymphadenopathy ORPHA:85408
Seckel Syndrome 7
Hypoplasia of the uterus OMIM:614851
Duodenal Neuroendocrine Tumor
Iron deficiency anemia, Increased hematocrit, Elevated circulating growth hormone concentration, ... ORPHA:100076
Coccidioidomycosis
Pericarditis, Abnormal sperm morphology, Lymphadenopathy, Abnormality of the male genitalia, Abno... ORPHA:228123
Proteasome-Associated Autoinflammatory Syndrome 1
Epididymitis, Microcytic anemia, Elevated circulating thyroid-stimulating hormone concentration, ... OMIM:256040
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Townes-Brocks Syndrome 1
Cryptorchidism, Bifid uterus, Bifid scrotum, Ventricular septal defect, Renal hypoplasia, Urethra... OMIM:107480
Satoyoshi Syndrome
Hypoplasia of the uterus OMIM:600705
Hennekam Syndrome
Horseshoe kidney, Lymphopenia, Pericardial effusion, Ectopic kidney, Pulmonary lymphangiectasia, ... ORPHA:2136
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart morphology OMIM:114620
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Cardiomyopathy, Biventricular hypertrophy OMIM:261740
Neuroendocrine Tumor Of Stomach
Iron deficiency anemia, Abnormal pulmonary valve cusp morphology, Chronic noninfectious lymphaden... ORPHA:100075
Pontocerebellar Hypoplasia Type 7
Cryptorchidism, Ambiguous genitalia, Microphallus, Absent penis, Abnormal scrotal rugation, Clito... ORPHA:284339
Behçet Disease
Endocarditis, Pericarditis, Orchitis, Weight loss, Splenomegaly, Renal insufficiency, Abnormal my... ORPHA:117
Popliteal Pterygium Syndrome
Cryptorchidism, Bifid scrotum, Scrotal hypoplasia, Hypoplasia of the uterus, Hypoplastic labia ma... OMIM:119500
Hypertrichotic Osteochondrodysplasia, Cantu Type
Abnormal heart valve morphology, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:1517
Bohring-Opitz Syndrome
Cholelithiasis, Urinary retention, Cardiomegaly, Severe failure to thrive, Abnormal cardiac septu... ORPHA:97297
Proteus Syndrome
Ovarian neoplasm, Long penis, Macroorchidism, Neoplasm of the thymus, Splenomegaly, Renal cyst, C... ORPHA:744
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss ORPHA:100085
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Right ventricular hypertrophy, Pollakisuria ORPHA:268
Carney Triad
Pheochromocytoma, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy ORPHA:139411
Sarcoidosis
Enlarged lacrimal glands, Hemolytic anemia, Increased T cell count, Abnormal reproductive system ... ORPHA:797
Spondyloenchondrodysplasia With Immune Dysregulation
T lymphocytopenia, Autoimmune thrombocytopenia, Tubulointerstitial fibrosis, Lymphopenia, Neutrop... OMIM:607944
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Weight loss ORPHA:100086
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Phocomelia, Schinzel Type
Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis ORPHA:2879
Sarcoidosis, Susceptibility To, 1
Enlarged lacrimal glands, Pericardial effusion, Abnormal salivary gland morphology, Generalized l... OMIM:181000
Greenberg Dysplasia
Extramedullary hematopoiesis, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Bone marrow hypocel... OMIM:215140
Neuroendocrine Neoplasm Of Appendix
Ovarian neoplasm, Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess, Tric... ORPHA:100079
Idiopathic Hypereosinophilic Syndrome
Thrombocytosis, Dilated cardiomyopathy, Myocardial eosinophilic infiltration, Leukocytosis, Gener... ORPHA:3260
Tropical Endomyocardial Fibrosis
Coronary artery stenosis, Restrictive cardiomyopathy, Myocardial calcification, Hepatomegaly, Lef... ORPHA:75565
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Bifid uterus, Supernumerary nipple, Abnormal reproductive system morphology ORPHA:1521
Woodhouse-Sakati Syndrome
Hypoplasia of the fallopian tube, Abnormal spermatogenesis, Streak ovary, Hypoplasia of the uteru... ORPHA:3464
Carcinoid Syndrome
Chronic noninfectious lymphadenopathy ORPHA:100093
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Atrial septal defect, Cardiomegaly, Left ventricular hypertrophy, Bicuspid aortic valve, Patent f... OMIM:245600
Naxos Disease
Dilated cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Right ventricular ca... OMIM:601214
Aicardi-Goutières Syndrome
Neonatal alloimmune thrombocytopenia, Chronic lymphatic leukemia, Cardiomegaly, Hepatosplenomegal... ORPHA:51
Wolf-Hirschhorn Syndrome
Cryptorchidism, Atrial septal defect, Accessory spleen, Ventricular septal defect, Small for gest... OMIM:194190
Abetalipoproteinemia
Reticulocytosis, Hepatomegaly, Cardiomegaly, Failure to thrive, Anemia, Acanthocytosis ORPHA:14
Yunis-Varon Syndrome
Cryptorchidism, Atrial septal defect, Ventricular septal defect, Renovascular hypertension, Clito... ORPHA:3472
Selective Igm Deficiency
Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Lymphadenitis, Decreas... ORPHA:331235
Williams Syndrome
Cryptorchidism, Abnormal endocardium morphology, Failure to thrive in infancy, Hypercalciuria, Ve... ORPHA:904
Primary Sjögren Syndrome
Vaginal dryness, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Normocytic ane... ORPHA:289390
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Aplasia of the uterus, Aplasia of the vagina ORPHA:457284
Acromesomelic Dysplasia, Demirhan Type
Hypergonadotropic hypogonadism, Hypoplasia of the uterus OMIM:609441
Blepharophimosis, Ptosis, And Epicanthus Inversus
Increased circulating gonadotropin level, Hypoplasia of the uterus, Premature ovarian insufficiency OMIM:110100
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy ORPHA:158687
Limb-Mammary Syndrome
Absent nipple, Bilateral breast hypoplasia, Aplasia of the ovary, Breast aplasia, Hypoplastic nip... ORPHA:69085
Glycogen Storage Disease Due To Acid Maltase Deficiency
Oligosacchariduria, Hepatomegaly, Cardiomegaly, Failure to thrive, Left ventricular hypertrophy, ... ORPHA:365
Kawasaki Disease
Pericarditis, Leukocytosis, Abnormal heart valve morphology, Double outlet right ventricle with s... ORPHA:2331
Coffin-Siris Syndrome 1
Cryptorchidism, Atrial septal defect, Hydroureter, Renal hypoplasia, Ventricular septal defect, C... OMIM:135900
Ehlers-Danlos Syndrome, Vascular Type
Cryptorchidism, Mitral valve prolapse, Uterine rupture, Cystocele, Anemia, Cervical insufficiency... OMIM:130050
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Abnormal pulmonary valve morphology, Anemia, Splenomegaly, Lymphadenopathy ORPHA:667
Riddle Syndrome
Generalized lymphadenopathy, Weight loss, Enuresis nocturna ORPHA:420741
Cherubism
Submandibular lymph node enlargement OMIM:118400
Neu-Laxova Syndrome 1
Cryptorchidism, Bifid uterus, Ventricular septal defect, Patent foramen ovale, Transposition of t... OMIM:256520
Rubinstein-Taybi Syndrome 1
Cryptorchidism, Bifid uterus, Atrial septal defect, Ventricular septal defect, Shawl scrotum, Tru... OMIM:180849
African Trypanosomiasis
Pericarditis, Weight loss, Urinary incontinence, Hepatomegaly, Abnormal prolactin level, Splenome... ORPHA:3385
Igg4-Related Ophthalmic Disease
Prostatitis, Enlarged lacrimal glands, Sialadenitis, Abnormality of the anterior pituitary, Orchi... ORPHA:449563
Leptospirosis
Pericarditis, Acute kidney injury, Cellular urinary casts, Thrombocytopenia, Hepatomegaly, Lympha... ORPHA:509
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Elevated circulating luteinizing hormone level, Lacrimal gland hypoplasia, Hypergonadotropic hypo... ORPHA:572333
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Cardiomegaly, Bicuspid aortic valve ORPHA:91387
Blau Syndrome
Pericarditis, Abnormal salivary gland morphology, Nephropathy, Stage 5 chronic kidney disease, Sp... ORPHA:90340
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Atrial septal defect, Single ventricle, Vent... ORPHA:99125
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Hyperphosphaturia, Pericardial effusion, Failure to thrive in infancy, M... ORPHA:51608
Peters-Plus Syndrome
Cryptorchidism, Atrial septal defect, Ventricular septal defect, Renal hypoplasia, Hypoplasia of ... OMIM:261540
Chikungunya
Lymphadenopathy, Cervical lymphadenopathy ORPHA:324625
Peters Plus Syndrome
Cryptorchidism, Hypoplasia of the uterus, Multicystic kidney dysplasia, Clitoral hypoplasia, Bicu... ORPHA:709
Adenocarcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424016
Pallister-Killian Syndrome
Cryptorchidism, Small scrotum, Atrial septal defect, Ventricular septal defect, Hypertrophic card... OMIM:601803
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Cryptorchidism, Scrotal hypoplasia, Hypoplastic nipples, Hypospadias, Anteriorly displaced genita... OMIM:276820
Vascular Ehlers-Danlos Syndrome
Cryptorchidism, Mitral valve prolapse, Renovascular hypertension, Abnormal heart valve morphology... ORPHA:286
Singleton-Merten Syndrome 1
Mitral valve calcification, Decreased body weight, Aortic valve stenosis, Cardiomegaly, Aortic va... OMIM:182250
Norrie Disease
Cryptorchidism, Failure to thrive, Cachexia, Uterine rupture ORPHA:649
Plague
Endocarditis, Lymphadenitis, Hepatomegaly, Splenomegaly, Enlarged mesenteric lymph node ORPHA:707
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030

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 Naa38

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 Naa38.

No publications found that use IMPC mice or data for Naa38.

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MGI Allele Allele Type Produced
Naa38em1(IMPC)Ccpcz Indel causing a Frameshift Mutation Mice
Naa38tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Naa38tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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