Gene Summary

Name:
cyclin dependent kinase inhibitor 1A (P21)
Synonyms:
Cdkn1,  SDI1,  mda6,  Waf1,  p21Cip1,  p21WAF,  p21WAF1/CIP1 CAP20,  CIP1,  P21,  CDKI

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
decreased body length Cdkn1atm1.1(KOMP)Vlcg HOM   Early adult 1.29×10-05
abnormal spleen morphology Cdkn1atm1.1(KOMP)Vlcg HOM Early adult 0.00
enlarged spleen Cdkn1atm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal heart morphology Cdkn1atm1.1(KOMP)Vlcg HOM Early adult 0.00
enlarged epididymis Cdkn1atm1.1(KOMP)Vlcg HOM Early adult 0.00
enlarged heart Cdkn1atm1.1(KOMP)Vlcg HOM Early adult 0.00
small testis Cdkn1atm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal testis morphology Cdkn1atm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal epididymis morphology Cdkn1atm1.1(KOMP)Vlcg HOM Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 100% (2 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Blood  Section images heterozygote 100% (2 of 2)
Bone marrow  Section images heterozygote 100% (2 of 2)
Brown adipose tissue  Section images heterozygote 100% (2 of 2)
Cecum  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Colon  Section images heterozygote 100% (2 of 2)
Diaphragm  Section images heterozygote 100% (2 of 2)
Duodenum  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Gonadal fat pad  Section images heterozygote 100% (2 of 2)
Harderian gland  Section images heterozygote 100% (2 of 2)
Ileum  Section images heterozygote 100% (2 of 2)
Jejunum  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Mammary gland  Section images heterozygote 50% (1 of 2)
Mesenteric adipose tissue  Section images heterozygote 100% (2 of 2)
Mesenteric lymph node  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Parathyroid gland  Section images heterozygote 100% (2 of 2)
Parotid gland  Section images heterozygote 100% (2 of 2)
Penis  Section images heterozygote 50% (1 of 2)
Pituitary gland  Section images heterozygote 50% (1 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Quadriceps  Section images heterozygote 100% (2 of 2)
Sciatic nerve  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Sublingual gland  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Thyroid gland  Section images heterozygote 100% (2 of 2)
Tongue  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 50% (1 of 2)
Trigeminal V nerve  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vagina  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Vesicular gland  Section images heterozygote 50% (1 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Cartilage tissue N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Gall bladder N/A heterozygote Not available
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Large intestine N/A heterozygote 100% (2 of 2)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote Not available
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote 100% (2 of 2)
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Vascular system N/A heterozygote Not available
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood 0.0%
bone marrow 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cecum 5.73% (22 of 384)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
chest bone Unavailable
colon 15.71% (22 of 140)
diaphragm 0.0%
duodenum 3.57% (5 of 140)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.71% (1 of 140)
heart 0.33% (2 of 598)
hindlimb 0.0%
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
ileum 14.29% (20 of 140)
jejunum 8.57% (12 of 140)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.31% (1 of 323)
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
stomach pyloric region 0.0%
striatum 0.5% (3 of 598)
sublingual gland 0.0%
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
tongue 3.57% (5 of 140)
trachea 0.5% (3 of 598)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vagina 0.0%
vas deferens 4.56% (18 of 395)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Adult LacZ

LacZ Images Section

230 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

Human diseases caused by Cdkn1a 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.

The table below shows human diseases associated to Cdkn1a by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Multiple Endocrine Neoplasia Type 1
Pituitary thyrotropic cell adenoma, Pituitary corticotropic cell adenoma, Neoplasm of the pancrea... ORPHA:652

The table below shows human diseases predicted to be associated to Cdkn1a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Reticulum Cell Sarcoma
Sarcoma, Neoplasm OMIM:267730
Drug Metabolism, Poor, Cyp2D6-Related
Neoplasm OMIM:608902
Cancer, Familial, With In Vitro Radioresistance
Neoplasm OMIM:114450
Nasopharyngeal Carcinoma, Susceptibility To, 2
Neoplasm OMIM:161550
Adamantinoma Of Long Bones
Neoplasm OMIM:102660
Multiple Self-Healing Squamous Epithelioma, Susceptibility To
Neoplasm OMIM:132800
Disseminated Superficial Actinic Porokeratosis
Squamous cell carcinoma, Pruritus ORPHA:79152
Autoimmune Lymphoproliferative Syndrome, Type Iii
Generalized lymphadenopathy, Recurrent sinusitis, Hepatosplenomegaly, Hepatomegaly, Antinuclear a... OMIM:615559
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Perifolliculitis, Chronic furunculosis, Acne inversa, Squamous cell carcinoma, Recurrent cutaneou... OMIM:613736
Immunodeficiency 11
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibo... OMIM:615206
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Anti-U1 ribonucleoprotein antibody positivity, Decreased proportion of marginal zone B cells, Coo... OMIM:619375
Li-Fraumeni Syndrome 2
Stomach cancer, Breast carcinoma, Sarcoma, Meningioma, Glioma OMIM:609265
Immunodeficiency 64 With Lymphoproliferation
Bronchiectasis, Decreased proportion of CD4-positive T cells, Hepatosplenomegaly, Cervical lympha... OMIM:618534
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Multiple Fibroadenomas Of The Breast
Fibroadenoma of the breast OMIM:615554
Pruritus, Hereditary Localized
Pruritus OMIM:177100
Dermatitis Herpetiformis, Familial
Pruritus OMIM:601230
Hyperkeratosis Lenticularis Perstans
Squamous cell carcinoma, Pruritus, Basal cell carcinoma ORPHA:409
Colorectal Cancer, Susceptibility To, 12
Carcinoma, Colorectal polyposis OMIM:615083
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Sarcoma, Squamous cell carcinom... OMIM:606719
Neutropenia, Severe Congenital, X-Linked
Decreased CD4:CD8 ratio, Eczema, Monocytopenia, Neutropenia OMIM:300299
Combined Oxidative Phosphorylation Deficiency 16
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, El... OMIM:615395
Autoimmune Lymphoproliferative Syndrome
Antiphospholipid antibody positivity, Coombs-positive hemolytic anemia, Hepatocellular carcinoma,... ORPHA:3261
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Facial papilloma, Bronchiectasis, Neutropenia in presence of anti-neutropil antibodies, Increased... OMIM:619220
Chondrosarcoma
Chondrosarcoma OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Immunodeficiency 105
Increased B cell count, Reduced natural killer cell count, Decreased circulating total IgM, T lym... OMIM:619924
Adult Idiopathic Neutropenia
Recurrent aphthous stomatitis, Monocytopenia, Lymphopenia, Abnormal neutrophil count, Increased c... ORPHA:2688
X-Linked Severe Congenital Neutropenia
Neutropenia, Monocytopenia ORPHA:86788
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Nephrotic syndrome, Podocyte foot process effacement, Minimal change glo... OMIM:617006
Tuberous Sclerosis 2
Hypothyroidism, Astrocytoma, Chordoma, Precocious puberty, Renal angiomyolipoma, Cardiac rhabdomy... OMIM:613254
Epidermodysplasia Verruciformis, Susceptibility To, 3
Squamous cell carcinoma, Basal cell carcinoma, Verrucae OMIM:618267
Autoimmune Lymphoproliferative Syndrome, Type Iia
Antiphospholipid antibody positivity, Coombs-positive hemolytic anemia, Eosinophilia, Hepatomegal... OMIM:603909
Immunodeficiency 24
Decreased CD4:CD8 ratio, Decreased circulating IgG level, Reduced proportion of mucosal-associate... OMIM:615897
Tuberous Sclerosis 1
Hypothyroidism, Astrocytoma, Chordoma, Precocious puberty, Renal angiomyolipoma, Cardiac rhabdomy... OMIM:191100
Immunodeficiency 21
Anemia, Myeloid leukemia, Osteomyelitis, Monocytopenia, B lymphocytopenia, Reduced natural killer... OMIM:614172
Muir-Torre Syndrome
Breast carcinoma, Neoplasm of the stomach, Adenoma sebaceum, Neoplasm of the liver, Malignant gen... ORPHA:587
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphoma, Splenomegaly, Hemolytic anemia, Leukemia, Increased circulating antibody level, Lymphoc... OMIM:614470
Autoimmune Lymphoproliferative Syndrome
Antiphospholipid antibody positivity, Coombs-positive hemolytic anemia, Eosinophilia, Hepatomegal... OMIM:601859
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Eczema, Hepatosplenomegaly, Eosin... OMIM:619802
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Leukopenia, T lymphocytopenia, Bronchiectasis, Monocytopenia, Impaired neutrophil ... OMIM:618986
Immunodeficiency 32B
Abnormal circulating IgG level, Anemia, Monocytopenia, Bronchiectasis, Neutrophilia, Sinusitis, E... OMIM:226990
Complement Component 3 Deficiency, Autosomal Recessive
Decreased circulating complement C3 concentration, Nephrotic syndrome, Membranoproliferative glom... OMIM:613779
Idiopathic Non-Lupus Full-House Nephropathy
Decreased circulating complement C3 concentration, Nephrotic syndrome, Acute kidney injury, Skin ... ORPHA:567544
Nut Midline Carcinoma
Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Pancreatic squamous cell carcinom... ORPHA:443167
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Lymphoma, Decreased CD4:CD8 ratio, Decreased T cell activation, Bronchiectasis, Recurrent sinusit... OMIM:300853
Acquired Ichthyosis
Lymphoma, Pruritus, Sarcoma, Multiple myeloma, Autoimmunity, Neoplasm, Recurrent skin infections,... ORPHA:454
Thymoma
Neoplasm of the gastrointestinal tract, Abnormal lymphocyte proliferation, Myositis, Glomerulonep... ORPHA:99867
Immunodeficiency, Common Variable, 6
Nephrotic range proteinuria, Chronic decreased circulating total IgG, Decreased specific pneumoco... OMIM:613496
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, B lymphocytopenia, Reduced natural killer cell activity, Neutrop... OMIM:619281
Meige Disease
Recurrent bacterial skin infections, Lymph node hypoplasia, Periorbital edema, Recurrent skin inf... ORPHA:90186
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Increased circulating antibody level, Acute monocytic leukemia, Thrombocytosis, Eosinophi... OMIM:202700
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level, Lymphopenia, Glomerulonephritis, Autoimmune hemolytic anemi... OMIM:247800
Immunodeficiency, Common Variable, 2
Lymphoma, Conjunctivitis, Bronchiectasis, Autoimmunity, Recurrent sinusitis, Recurrent otitis med... OMIM:240500
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hepatic failure OMIM:261650
Autoimmune Hepatitis
Anti-liver cytosolic antigen type 1 antibody positivity, Sclerosing cholangitis, Diffuse hepatic ... ORPHA:2137
Congenital Macroglossia
Neurofibromas, Abnormal hepatic glycogen storage ORPHA:2430
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Epidermodysplasia Verruciformis
Squamous cell carcinoma, Pustule, Recurrent skin infections, Seborrheic dermatitis, Verrucae ORPHA:302
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Herpes simplex encephalitis, Increased proportion of memory T cells, Bron... OMIM:618982
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma, Abnormality of the peritoneum ORPHA:2023
C3 Glomerulopathy
Decreased circulating complement C3 concentration, Glomerular extracapillary hypercellularity, Ne... ORPHA:329918
Muir-Torre Syndrome
Breast carcinoma, Adenoma sebaceum, Duodenal adenocarcinoma, Malignant genitourinary tract tumor,... OMIM:158320
Ethanolaminosis
Cardiomegaly OMIM:227150
Mast Cell Sarcoma
Sarcoma, Mastocytosis, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly ORPHA:66661
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Acute myeloid leukemia, Eczema, Systemic lupus erythematosus, Bone marrow hypocellula... OMIM:616871
Systemic Lupus Erythematosus 16
Decreased circulating complement C3 concentration, Perinuclear antineutrophil antibody positivity... OMIM:614420
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Recurrent urinary tract infections, Autoimmunity, Recurrent otitis media... OMIM:618495
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Hepatomegaly, Decreased proportion of CD4-positive helper T cells, Pneumonia, Dec... ORPHA:276
Proteasome-Associated Autoinflammatory Syndrome 2
Antinuclear antibody positivity, Increased CD4:CD8 ratio, Anti-thyroid peroxidase antibody positi... OMIM:618048
Glycoprotein Storage Disease
Gout, Splenomegaly OMIM:232900
Simple Cryoglobulinemia
Viral hepatitis, Pericarditis, B-cell lymphoma, Microscopic hematuria, Chronic lymphatic leukemia... ORPHA:91139
Cowden Syndrome
Fibroma, Neoplasm of the central nervous system, Melanoma, Neoplasm of the skin, Neoplasm of the ... ORPHA:201
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Splenomegaly OMIM:614480
Alopecia Areata 1
Autoimmunity, Alopecia universalis, Patchy alopecia, Alopecia totalis OMIM:104000
Immunodeficiency 27A
Anemia, Increased circulating IgG level, Hepatosplenomegaly, Rheumatoid factor positive, Lymphade... OMIM:209950
Multiple Endocrine Neoplasia, Type I
Increased circulating prolactin concentration, Parathyroid adenoma, Adenoma sebaceum, Increased c... OMIM:131100
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Pancreatic adenocarcinoma, Breast carcinoma, Seborrheic keratosis, Duodenal adenocarcinoma, Squam... ORPHA:454840
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, Neutropenia, B lymphocytopenia OMIM:613107
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Pgm3-Cdg
T lymphocytopenia, Bronchiectasis, Reduced antigen-specific T cell proliferation, Eczema, Bone ma... ORPHA:443811
Immunodeficiency 15B
Reduced natural killer cell count, Chronic oral candidiasis, Decreased circulating antibody level... OMIM:615592
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Squamous cell carcinoma of the vulva, Squamous cell carcinom... ORPHA:217390
X-Linked Lymphoproliferative Disease
T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Bone marrow hypocellularity, Cervi... ORPHA:2442
Chilblain Lupus
Pruritis on hand, Malar rash, Chronic myelomonocytic leukemia, Inflammatory abnormality of the sk... ORPHA:90280
Schopf-Schulz-Passarge Syndrome
Squamous cell carcinoma, Poroma, Apocrine hidrocystoma, Basal cell carcinoma OMIM:224750
Idiopathic Copper-Associated Cirrhosis
Hepatic steatosis, Copper accumulation in liver, Cirrhosis ORPHA:209919
Cheilitis Glandularis
Squamous cell carcinoma, Neoplasm ORPHA:1221
Sebocystomatosis
Steatocystoma multiplex, Nephrolithiasis, Adenoma sebaceum ORPHA:841
Li-Fraumeni Syndrome
Nephroblastoma, Breast carcinoma, Prostate cancer, Adrenocortical carcinoma, Choriocarcinoma, Neo... OMIM:151623
Nephrotic Syndrome, Type 7
Hemolytic-uremic syndrome, Hemolytic anemia, Nephrotic syndrome, Acute kidney injury, Stage 5 chr... OMIM:615008
Schimke Immuno-Osseous Dysplasia
Nephrotic range proteinuria, Impaired T cell function, Bone marrow hypocellularity, Thrombocytope... ORPHA:1830
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Bron... OMIM:616005
Igg4-Related Kidney Disease
Nephrotic range proteinuria, Increased circulating IgG4 level, Prostatitis, Sclerosing cholangiti... ORPHA:449395
Immunoerythromyeloid Hypoplasia
Lymphoproliferative disorder, Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Milroy Disease
Angiosarcoma, Hydrocele testis, Neoplasm of the skin, Erysipelas ORPHA:79452
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly, B-cell lymphoma ORPHA:52416
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Hypothyroidism, Anemia, Anti-glutamic acid decarboxylase antibody positivity, Hepatitis, Coombs-p... OMIM:304790
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly, Myelodysplasia OMIM:162830
Familial Keratoacanthoma
Papilloma, Neoplasm, Adenoma sebaceum ORPHA:493
Leukonychia Totalis
Nephrolithiasis, Adenoma sebaceum, Blepharitis ORPHA:2387
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Reduced natural killer cell count, Decreased circulating total IgM, Bronchiectasis, Eosinophilic ... OMIM:243700
Rhabdoid Tumor
Anemia, Neoplasm of the central nervous system, Sarcoma, Neoplasm of the liver, Hematuria, Renal ... ORPHA:69077
C1Q Deficiency 1
Decreased circulating complement factor I concentration, Autoimmunity, Membranoproliferative glom... OMIM:613652
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Fibroma, Hypothyroidism, Decreased circulating antibody level, Hepatosplenomegaly, Recurrent pneu... OMIM:619750
Hypocomplementemic Urticarial Vasculitis
Lymphoma, Glomerulopathy, Splenomegaly, Conjunctivitis, Pruritus, Episcleritis, Skin rash, Inflam... ORPHA:36412
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Erythroderma, T lymphocytopenia, Decreased lymphocyte proliferation in response to mitogen, Incre... ORPHA:169154
Immunodeficiency 102
Hypothyroidism, Bronchiectasis, Recurrent sinusitis, Hepatomegaly, Decreased proportion of CD4-po... OMIM:301082
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Antinuclear antibody positivity, Thyroiditis, Keratoconjunctivitis sicca, Lary... OMIM:617388
Mitochondrial Complex I Deficiency, Nuclear Type 39
Anemia, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopat... OMIM:620135
Autoinflammatory-Pancytopenia Syndrome
Hepatic fibrosis, Granuloma, Chilblains, Membranoproliferative glomerulonephritis, Pancytopenia, ... OMIM:619858
Ollier Disease
Anemia, Precocious puberty, Chondrosarcoma, Sarcoma, Multiple enchondromatosis, Visceral angiomat... ORPHA:296
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Decreased circulating antibody level, B-cell lymphoma, Autoimmunity, Pancytop... OMIM:613011
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Decreased circulating total IgM, B lymphocytopenia, Decreased proportion of CD8-positive,... OMIM:619824
Immunodeficiency 23
Molluscum contagiosum, Hemolytic anemia, Bronchiectasis, Allergic rhinitis, Membranoproliferative... OMIM:615816
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Myelodysplasia, Hepatocellular carcinoma, Acute lymphoblastic leukemia, H... ORPHA:158057
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... OMIM:616452
Immunodeficiency 91 And Hyperinflammation
Hemolytic-uremic syndrome, Nephrotic syndrome, Neutrophilia, Membranoproliferative glomerulonephr... OMIM:619644
Purine Nucleoside Phosphorylase Deficiency
Lymphoma, Decreased lymphocyte proliferation in response to mitogen, Recurrent urinary tract infe... OMIM:613179
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypothyroidism, Crusting erythematous dermatitis, Anti-liver cytosolic antigen type 1 antibody po... ORPHA:37042
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphoma, Breast carcinoma, Hyperhidrosis, Lymphadenopathy, Hepatomegaly, Pruritus, Splenomegaly,... ORPHA:86893
Patent Ductus Venosus
Hepatic steatosis, Decreased liver function OMIM:601466
Schnitzler Syndrome
Lymphoma, Anemia, Arthritis, Skin rash, Lymphadenopathy, Leukocytosis, Increased circulating IgM ... ORPHA:37748
Lipodystrophy, Partial, Acquired, Susceptibility To
Decreased circulating complement C3 concentration, Nephrotic syndrome, Progressive loss of facial... OMIM:608709
Systemic Lupus Erythematosus
Leukopenia, Malar rash, Antiphospholipid antibody positivity, Hemolytic anemia, Arthritis, Nephri... OMIM:152700
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, B lymphocytopenia, Lack of T cell function, Anti-thyroid peroxidase antibody p... ORPHA:277
C3 Glomerulopathy 3
Mesangial matrix expansion, Stage 5 chronic kidney disease, Thickening of glomerular capillary wa... OMIM:614809
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Hepatic steatosis, Elevated hepatic transaminase OMIM:618400
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Hepatomegaly, Eosinophilia, Pruritus, Splenomegaly OMIM:607685
Acquired Partial Lipodystrophy
Glomerulopathy, Decreased circulating complement C3 concentration, Lymphocytosis, Autoimmunity, H... ORPHA:79087
Xeroderma Pigmentosum Variant
Melanoma, Squamous cell carcinoma, Basal cell carcinoma ORPHA:90342
Congenital Disorder Of Glycosylation, Type Iip
Hepatic steatosis, Elevated hepatic transaminase, Decreased liver function OMIM:616829
Osteoarthritis Susceptibility 3
Osteoarthritis of the first carpometacarpal joint, Osteoarthritis of the distal interphalangeal j... OMIM:607850
Necrobiosis Lipoidica
Squamous cell carcinoma, Inflammatory abnormality of the skin ORPHA:542592
Idiopathic Pulmonary Hemosiderosis
Autoimmune antibody positivity, Hepatosplenomegaly, Rheumatoid factor positive, Glomerulonephriti... ORPHA:99931
Hypogonadism, Male
Male hypogonadism, Testicular atrophy, Hypospadias, Micropenis OMIM:241100
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Decreased circulating antibody level, Hepatosplenomegaly, Lymp... OMIM:618261
Schöpf-Schulz-Passarge Syndrome
Squamous cell carcinoma, Basal cell carcinoma, Ovarian neoplasm ORPHA:50944
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center, Abnormality of the liver, Decreased circulating IgG level OMIM:235550
Omenn Syndrome
Lymphoma, Hypothyroidism, Anemia, Erythroderma, Nephrotic syndrome, Thyroiditis, Autoimmunity, Ly... ORPHA:39041
Hodgkin Lymphoma
Lymphoma, Hyperhidrosis, Lymphadenopathy, Neoplasm, Hepatomegaly, Pruritus, Splenomegaly ORPHA:98293
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Hepatitis, Autoimmunity, Lymphopenia, Autoimmune thrombocytopenia, Recurrent ot... ORPHA:444463
Combined Immunodeficiency Due To Zap70 Deficiency
Abnormal lymph node morphology, Hepatosplenomegaly, Eosinophilia, Colitis, Pneumonia, Lymphadenit... ORPHA:911
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Lymphoma, Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM... OMIM:153600
Primary Membranoproliferative Glomerulonephritis
Decreased circulating complement C3 concentration, Renal insufficiency, Nephrotic syndrome, Acute... ORPHA:54370
Immunodeficiency 25
Complete or near-complete absence of specific antibody response to tetanus vaccine, T lymphocytop... OMIM:610163
Lymphoproliferative Syndrome, X-Linked, 1
Lymphoma, Burkitt lymphoma, Infectious encephalitis, Reduced natural killer cell activity, Decrea... OMIM:308240
Pediatric Systemic Lupus Erythematosus
Lupus anticoagulant, Myositis, Abnormality of the urinary system, Thrombocytopenia, Antinuclear a... ORPHA:93552
Congenital Disorder Of Glycosylation, Type Iir
Jaundice, Elevated hepatic transaminase, Hepatic steatosis, Micronodular cirrhosis, Hepatomegaly,... OMIM:301045
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Flexion contracture, High palate, Precocious puberty,... OMIM:616222
Desmoplastic Small Round Cell Tumor
Anemia, Neoplasm of the central nervous system, Neoplasm of the lung, Sarcoma, Neoplasm of the pa... ORPHA:83469
Selective Igm Deficiency
Recurrent vulvovaginal candidiasis, Bronchiectasis, Fasciitis, Recurrent sinusitis, Decreased pro... ORPHA:331235
Immunodeficiency 76
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Recurrent pneumonia, Lymphadenopathy, Colitis,... OMIM:619164
Tumor Predisposition Syndrome 1
Renal cell carcinoma, Malignant mesothelioma, Lung adenocarcinoma, Meningioma, Uveal melanoma, Cu... OMIM:614327
Dermatofibrosarcoma Protuberans
Fibrosarcoma, Neoplasm of the skin ORPHA:31112
Sting-Associated Vasculopathy, Infantile-Onset
Leukopenia, Anemia, Malar rash, Cytoplasmic antineutrophil antibody positivity, Skin rash, Lympho... OMIM:615934
Mu-Heavy Chain Disease
Anemia, Increased circulating antibody level, Abnormal B cell count, Nephropathy, Lymphadenopathy... ORPHA:100024
Immunodeficiency 75 With Lymphoproliferation
Lymphoma, Bronchiectasis, Hepatosplenomegaly, Lymphadenopathy, Follicular hyperplasia, Decreased ... OMIM:619126
Trichodermodysplasia-Dental Alterations Syndrome
Abnormal morphology of female internal genitalia, Adenoma sebaceum, Neoplasm of the skin ORPHA:3353
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Decreased T cell activation, Decreased circulating total IgM, Eczema, Co... OMIM:607271
Felty Syndrome
Neutropenia, Splenomegaly, Rheumatoid arthritis OMIM:134750
Nephrotic Syndrome, Type 23
Podocyte foot process effacement, Minimal change glomerulonephritis, Proteinuria, Mesangial hyper... OMIM:619201
Complement Component 4A Deficiency
Glomerulonephritis, Reduced hemolytic complement activity, Decreased circulating complement C4 co... OMIM:614380
Xeroderma Pigmentosum, Complementation Group F
Seborrheic keratosis, Keratoacanthoma, Squamous cell carcinoma, Basal cell carcinoma, Neoplasm of... OMIM:278760
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Decreased circulating antibody level, Bronchiectasis... OMIM:617514
Hereditary Leiomyomatosis And Renal Cell Cancer
Uterine leiomyoma, Multiple cutaneous leiomyomas, Uterine leiomyosarcoma, Esophageal neoplasm, Va... ORPHA:523
Junctional Epidermolysis Bullosa Inversa
Cutaneous melanoma, Squamous cell carcinoma, Basal cell carcinoma ORPHA:79405
Classic Mycosis Fungoides
Lymphoma, Skin rash, Eczema, Neoplasm of the skin, Lymphadenopathy, Hepatomegaly, Cutaneous T-cel... ORPHA:2584
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Abnormal macrophage morphology, Decreased circulating antibody lev... ORPHA:2585
Focal Segmental Glomerulosclerosis 10
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuria, Renal insufficien... OMIM:256020
Ichthyosis, Hystrix-Like, With Deafness
Squamous cell carcinoma, Erythroderma OMIM:602540
Cowden Syndrome 1
Breast carcinoma, Hypothyroidism, Hyperthyroidism, Decreased circulating antibody level, Thyroidi... OMIM:158350
Congenital Atransferrinemia
Arthritis, Anemia ORPHA:1195
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Refractory anemia with ringe... OMIM:133180
Morbid Obesity And Spermatogenic Failure
Azoospermia, Obesity, Oligospermia, Increased LDL cholesterol concentration, Decreased HDL choles... OMIM:615703
Porokeratosis
Pruritus, Squamous cell carcinoma of the skin ORPHA:79358
Preeclampsia
Acute kidney injury, Abnormality of the kidney, Autoimmunity, Polycystic ovaries, Thrombocytopeni... ORPHA:275555
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Glomerulonephritis, Thrombocytopenia, Hematuria, Increased circulating IgA level OMIM:314000
Linear Nevus Sebaceus Syndrome
Cavernous hemangioma, Adenoma sebaceum ORPHA:2612
Indolent Systemic Mastocytosis
Skin rash, Mastocytosis, Lymphadenopathy, Increased proportion of CD25+ mast cells, Hepatomegaly,... ORPHA:98848
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Nephrotic syndrome, Renal insufficiency, Glomerular deposits ORPHA:69063
Immunodeficiency, Common Variable, 1
Conjunctivitis, Decreased circulating total IgM, B lymphocytopenia, Bronchiectasis, Neutropenia i... OMIM:607594
Alpha-Heavy Chain Disease
Lymphoma, Anemia, Lymphadenopathy, Hepatomegaly, Dysgammaglobulinemia, Ascites, Splenomegaly ORPHA:100025
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Myelodysplasia, Autoimmunity, Bone marrow hypocellularity, Leukocytosis, ... ORPHA:98827
Igg4-Related Retroperitoneal Fibrosis
Psoriasiform dermatitis, Acute kidney injury, Normocytic anemia, Deep dermal perivascular inflamm... ORPHA:49041
Autoinflammation, Immune Dysregulation, And Eosinophilia
Hypothyroidism, Nephrotic syndrome, Hepatosplenomegaly, Eosinophilic liver infiltration, Colonic ... OMIM:618999
Boutonneuse Fever
Leukopenia, Skin rash, Lymphadenopathy, Thrombocytopenia, Increased circulating IgM level, Cervic... ORPHA:83313
Hemochromatosis Type 4
Hepatic steatosis, Cirrhosis, Congenital hepatic fibrosis ORPHA:139491
Hemochromatosis, Type 2B
Hepatic fibrosis, Cirrhosis, Anemia, Hypogonadism, Secondary amenorrhea, Hepatomegaly, Splenomega... OMIM:613313
Immunodeficiency, Common Variable, 8, With Autoimmunity
Hypothyroidism, Bronchiectasis, Generalized lymphadenopathy, Recurrent sinusitis, Colitis, Thromb... OMIM:614700
Glycogen Storage Disease Vi
Hypercholesterolemia, Hyperlipidemia, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in in... OMIM:232700
Punctate Palmoplantar Keratoderma Type 1
Pancreatic adenocarcinoma, Breast carcinoma, Stomach cancer, Adenocarcinoma of the small intestin... ORPHA:79501
Lymphoproliferative Syndrome 2
Lymphoma, Decreased lymphocyte proliferation in response to mitogen, Decreased circulating antibo... OMIM:615122
Generalized Eruptive Histiocytosis
Hypereosinophilia, Maculopapular exanthema, Lymphadenopathy, Pruritus, Histiocytosis, Leukemia ORPHA:157991
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
T lymphocytopenia, Increased proportion of transitional B cells, Bronchiectasis, Decreased circul... OMIM:615513
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia, B-cell lymphoma OMIM:619437
Late-Onset Junctional Epidermolysis Bullosa
Cutaneous melanoma, Squamous cell carcinoma, Basal cell carcinoma ORPHA:79406
Cholestasis, Progressive Familial Intrahepatic, 12
Pruritus, Jaundice, Cholestasis, Hepatomegaly, Proteinuria, Splenomegaly OMIM:620010
Amyloidosis, Familial Visceral
Nephrotic syndrome, Skin rash, Hematuria, Nephropathy, Cholestasis, Hepatomegaly, Proteinuria, Sp... OMIM:105200
Immunodeficiency With Hyper-Igm, Type 4
Osteomyelitis, Bronchiectasis, Myelodysplasia, Autoimmune thrombocytopenia, Impaired Ig class swi... OMIM:608184
Hemochromatosis, Type 1
Cirrhosis, Impotence, Hepatocellular carcinoma, Azoospermia, Testicular atrophy, Diabetes mellitu... OMIM:235200
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Hodgkin lymphoma, Polyclonal elevatio... OMIM:236000
Neutral Lipid Storage Disease With Myopathy
Hepatic steatosis, Elevated hepatic transaminase, Increased muscle lipid content, Hepatomegaly OMIM:610717
Immunodeficiency 95
Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level, Recurrent viral ... OMIM:619773
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Decreased circulating complement C3 concentration, Nephrotic syndrome, Progressive loss of facial... OMIM:613913
Immunodeficiency 104
T lymphocytopenia, Eczema, Recurrent otitis media, Chronic mucocutaneous candidiasis, Lymphadenop... OMIM:608971
Primary Sjögren Syndrome
Biliary cirrhosis, Chronic active hepatitis, Keratoconjunctivitis sicca, Cryoglobulinemia, Myosit... ORPHA:289390
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Carcinoma, Unilateral vestibular schwannoma OMIM:603641
Atypical Hemolytic Uremic Syndrome
Decreased circulating complement factor B concentration, Acute kidney injury, Abnormality of comp... ORPHA:2134
Cutaneous Neuroendocrine Carcinoma
Squamous cell carcinoma of the skin, Lymphoid leukemia, Neoplasm of the outer ear, Multiple myelo... ORPHA:79140
Lipoprotein Glomerulopathy
Mesangial hypercellularity, Renal insufficiency, Glomerulopathy, Proteinuria OMIM:611771
Self-Improving Dystrophic Epidermolysis Bullosa
Cutaneous melanoma, Squamous cell carcinoma, Basal cell carcinoma ORPHA:79411
Brucellosis
Sacroiliac arthritis, Septic arthritis, Hip osteoarthritis, Pericarditis, Glomerulonephritis, Hep... ORPHA:1304
Gamma-Heavy Chain Disease
Neoplasm of the tongue, Anemia, Rheumatoid arthritis, Skin rash, Autoimmunity, Autoimmune thrombo... ORPHA:100026
Nephrotic Syndrome, Type 10
Podocyte foot process effacement, Minimal change glomerulonephritis, Steroid-resistant nephrotic ... OMIM:615861
Infantile Myofibromatosis
Fibroma, Benign neoplasm of the central nervous system, Abnormality of the kidney, Neoplasm of th... ORPHA:2591
Hemochromatosis, Type 2A
Cirrhosis, Infertility, Azoospermia, Dilated cardiomyopathy, Hepatomegaly, Hypogonadotropic hypog... OMIM:602390
Nephrotic Syndrome, Type 16
Proteinuria, Minimal change glomerulonephritis, Hematuria, Nephrotic syndrome OMIM:617783
Growth Hormone Insensitivity Syndrome
Hypogonadism, Hypoplasia of penis, Failure to thrive, Truncal obesity, Hypercholesterolemia ORPHA:181393
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hepatic steatosis, Elevated hepatic transaminase, Decreased liver function OMIM:617093
Sézary Syndrome
Lymphoma, Erythroderma, Neoplasm of the skin, Abnormal immunoglobulin level, Lymphadenopathy, Hep... ORPHA:3162
Diethylstilbestrol Syndrome
Decreased fertility in females, Abnormal testis morphology, Premature ovarian insufficiency, Vagi... ORPHA:1916
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphadenitis, Abnormal natural killer cell count, Decreased circulating total IgM, Decreased lym... ORPHA:331206
Multicentric Reticulohistiocytosis
Arthritis, Histiocytosis ORPHA:139436
Felty Syndrome
Lymphoma, Anemia, Rhinitis, Recurrent urinary tract infections, Arthritis, Synovitis, Autoimmunit... ORPHA:47612
Tubulointerstitial Nephritis With Uveitis
Non-caseating epithelioid cell granulomatosis, Acute tubulointerstitial nephritis, Uveitis, Circu... OMIM:607665
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Squamous cell carcinoma, Cutaneous melanoma, Pruritus, Basal cell carcinoma ORPHA:79410
Classic Hodgkin Lymphoma
Lymphoma, Hyperhidrosis, Skin rash, Lymphadenopathy, Neoplasm, Bone marrow hypocellularity, Hepat... ORPHA:391
Autoimmune Hemolytic Anemia, Warm Type
Chronic lymphatic leukemia, Jaundice, Autoimmunity, Autoimmune hemolytic anemia, Abnormal urinary... ORPHA:90033
Chondrocalcinosis 2
Polyarticular chondrocalcinosis, Osteoarthritis, Arthropathy OMIM:118600
Pauci-Immune Glomerulonephritis
Nephrotic range proteinuria, Tubulointerstitial nephritis, Scleritis, Acute kidney injury, Cytopl... ORPHA:93126
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Yellow Nail Syndrome
Rhinitis, Bronchiectasis, Sarcoma, Biliary tract neoplasm, Renal neoplasm, Nephropathy, Hypoplasi... ORPHA:662
Coronary Artery Disease, Autosomal Dominant, 1
Obesity, Hypercholesterolemia OMIM:608320
Igg4-Related Submandibular Gland Disease
Increased circulating IgG4 level, Prostatitis, Eosinophilia, Sialadenitis, Increased circulating ... ORPHA:449432
Cystic Echinococcosis
Peritoneal abscess, Abnormality of the pancreas, Abnormality of the testis size, Cholestatic live... ORPHA:400
Diffuse Neonatal Hemangiomatosis
Patent ductus arteriosus, Anemia, Renal hypoplasia/aplasia, Visceral angiomatosis, Thrombocytopen... ORPHA:2123
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent aphthous stomatitis, Decreased circulating IgG level, Chronic oral candidiasis, Juvenil... ORPHA:275
Autoimmune Hemolytic Anemia
Lymphoma, Hemolytic anemia, Autoimmunity, Abnormal urinary color, Abnormal leukocyte morphology, ... ORPHA:98375
Acquired Idiopathic Sideroblastic Anemia
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Granulocytopenia, Myelo... ORPHA:75564
Maffucci Syndrome
Breast carcinoma, Astrocytoma, Parathyroid adenoma, Neoplasm of the parathyroid gland, Neoplasm o... ORPHA:163634
Nephrotic Syndrome, Type 15
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Minimal change glomerulonep... OMIM:617609
Lysinuric Protein Intolerance
Hyperlysinuria, Ornithinuria, Hepatosplenomegaly, Glomerulonephritis, Hepatomegaly, Argininuria, ... ORPHA:470
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 22 concentration, Crohn's disease, Bronchiectasis, Reduced circul... OMIM:619632
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Genital ulcers, Panhypogammaglobulinemia, B lymphocytopenia, Generalized lymphadenopathy, Lymphop... OMIM:602450
Systemic Sclerosis
Anti-centromere antibody positivity, Recurrent skin infections, Osteomyelitis, Hypohidrosis, Prur... ORPHA:90291
Granulomatous Slack Skin
Abnormal lymph node morphology, Lymphoma, Acute kidney injury, Nephrocalcinosis, Hodgkin lymphoma ORPHA:33111
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Fibroma, Aspiration pneumonia, Tracheobronchial leiomyomatosis, Diffuse leiomyomatosis, Stage 5 c... ORPHA:1018
Immunodeficiency 70
Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody level, Recurre... OMIM:618969
Insulin-Resistance Syndrome Type B
Decreased circulating complement factor B concentration, Biliary cirrhosis, Thrombocytopenia, Pne... ORPHA:2298
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, Decreased circulating total IgM, Reduced natural killer cell activity, ... OMIM:300400
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Conjunctivitis, Panhypogammaglobulinemia, Purulent rhinitis, T lymphocytopenia, B lymphocytopenia... OMIM:601457
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Mycosis Fungoides
Lymphoma, Pruritus, Eczema, Neoplasm of the skin, Psoriasiform dermatitis OMIM:254400
Agammaglobulinemia, X-Linked
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... OMIM:300755
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Eosinophilia, Hepatomegaly, Pneumonia, Splenomegaly, B-cell ly... OMIM:102700
Glomerulopathy With Fibronectin Deposits 1
Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Stage 5 chronic kidney disease, Nephropa... OMIM:137950
Neutropenia, Severe Congenital, 9, Autosomal Dominant
3-Methylglutaconic aciduria, Splenomegaly OMIM:619813
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F ORPHA:46532
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal natural killer cell count, Chronic oral candidiasis, Abnormal proport... OMIM:212050
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Stage 5 chronic kidney disease, Proteinuria, Nephrotic syndrome OMIM:614199
Hyper-Igd Syndrome
Lymphadenitis, Elevated urine mevalonic acid level, Chronic oral candidiasis, Renal angiomyolipom... OMIM:260920
Desmoid Tumor
Fibroma, Abnormality of the upper urinary tract, Neoplasm of the skin, Intestinal polyposis, Desm... ORPHA:873
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatosplenomegaly, Lipodystrophy, Generalized lipodystrophy... OMIM:612526
Lymphatic Filariasis
Lymphadenitis, Hypereosinophilia, Lymphangiectasis, Vaginal hydrocele, Abnormality of the scrotum... ORPHA:2035
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis ORPHA:436182
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Arthritis, Lymphopenia, Limitation of joint mobility, Eosinophilia ORPHA:2582
Li-Fraumeni Syndrome
Acute myeloid leukemia, Neoplasm of the gastrointestinal tract, Neoplasm of the central nervous s... ORPHA:524
Hemoglobin H Disease
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly OMIM:613978
Familial Partial Lipodystrophy, Köbberling Type
Hepatic steatosis, Pancreatitis, Hepatomegaly ORPHA:79084
Pilomatrixoma
Pilomatrixoma, Anti-myeloperoxidase antibody positivity, Pruritus, Neoplasm of head and neck ORPHA:91414
Progressive Osseous Heteroplasia
Sarcoma, Abnormality of the parathyroid gland, Osteoarthritis ORPHA:2762
Preeclampsia/Eclampsia 1
Proteinuria, Thrombocytopenia OMIM:189800
Syndromic Recessive X-Linked Ichthyosis
Hypohidrosis, Hypogonadism, Testicular seminoma, Unilateral renal agenesis, Cryptorchidism, Renal... ORPHA:281090
Galloway-Mowat Syndrome 2, X-Linked
Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuri... OMIM:301006
African Iron Overload
Hepatic fibrosis, Hepatitis, Hepatocellular carcinoma, Hepatic bridging fibrosis, Hepatic steatos... ORPHA:139507
Rotor Syndrome
Intermittent jaundice, Storage in hepatocytes, Jaundice ORPHA:3111
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia, Kaposi's sarcoma OMIM:615593
Glomerulopathy With Fibronectin Deposits 2
Renal insufficiency, Glomerular deposits, Stage 5 chronic kidney disease, Nephrotic syndrome, Pro... OMIM:601894
Multiple Endocrine Neoplasia, Type Iv
Hypothyroidism, Parathyroid adenoma, Renal angiomyolipoma, Pancreatic endocrine tumor, Pituitary ... OMIM:610755
Tyrosinemia Type 1
Hepatocellular carcinoma, Splenomegaly, Generalized aminoaciduria, Hepatomegaly ORPHA:882
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Knee flexion contracture, Sterile abscess, Arthritis, Elbow flexion contracture, Pancytopenia, He... OMIM:604416
Papillon-Lefèvre Syndrome
Chronic furunculosis, Squamous cell carcinoma, Melanoma, Neoplasm of the skin, Recurrent cutaneou... ORPHA:678
Congenital Generalized Lipodystrophy
Precocious puberty in females, Increased C-peptide level, Overgrowth of external genitalia, Adipo... ORPHA:528
Immunodeficiency 81
Reduced natural killer cell activity, Impaired neutrophil chemotaxis, Skin rash, Reduced antigen-... OMIM:619374
Ovarian Fibrothecoma
Fibrosarcoma, Diffuse leiomyomatosis, Gonadal calcification, Peritonitis, Abnormality of the ovar... ORPHA:314478
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Crohn's disease, Decreased circulating total IgM, Bronchiectasis, Decreased c... OMIM:616100
Lymphedema-Distichiasis Syndrome
Tubulointerstitial nephritis, Glomerulopathy, Renal duplication, Patent ductus arteriosus, Fibros... ORPHA:33001
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Mastocytosis
Sarcoma, Mastocytosis, Hepatomegaly, Pruritus, Acute leukemia, Splenomegaly, Chronic leukemia ORPHA:98292
Whim Syndrome 1
Abnormality of female external genitalia, Decreased circulating IgG level, Bronchiectasis, Decrea... OMIM:193670
Gracile Syndrome
Hepatic steatosis, Cirrhosis, Cholestasis, Elevated hepatic iron concentration ORPHA:53693
Apc-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the pancreas, Esophageal carcinoma, Papillary thyroid carcinoma, Breast carcinoma, As... ORPHA:247806
Paraneoplastic Pemphigus
Thymoma, Sarcoma, B-cell lymphoma ORPHA:63455
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Lung adenocarcinoma, Proteinuria, Tubu... OMIM:618913
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Anemia, Increased circulating antibody level, Enlarged kidney, Failure to thrive, Hep... OMIM:615285
Immunodeficiency 48
Panhypogammaglobulinemia, Absence of CD8-positive T cells, Hepatomegaly, Eczematoid dermatitis, P... OMIM:269840
Isolated Follicle Stimulating Hormone Deficiency
Female hypogonadism, Gonadotropin deficiency, Decreased serum estradiol, Decreased testicular siz... ORPHA:52901
Spondyloenchondrodysplasia
Hypothyroidism, Decreased response to growth hormone stimulation test, Juvenile rheumatoid arthri... ORPHA:1855
Analbuminemia
Patent ductus arteriosus, Elevated circulating transferrin concentration, Lipodystrophy, Increase... OMIM:616000
Anti-Glomerular Basement Membrane Disease
Glomerulopathy, Anemia, Arthritis, Hematuria, Autoimmunity, Proteinuria, Renal insufficiency ORPHA:375
Aicardi Syndrome
Precocious puberty, Hemangioma, Carcinoma, Teratoma, Hepatoblastoma, Recurrent pneumonia, Lipoma,... OMIM:304050
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Myelodysplasia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Micr... ORPHA:231401
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Mesangial hypercellularity, Crescentic glomerulonephritis, Antinuclear antibody positivity, Arthr... OMIM:616414
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormal lymph node morphology, Breast carcinoma, Renal oncocytoma, Papillary renal cell carcinom... ORPHA:97290
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Gardner Syndrome
Neoplasm of the pancreas, Hepatoblastoma, Esophageal carcinoma, Papillary thyroid carcinoma, Brea... ORPHA:79665
Branchiootorenal Syndrome 2
Renal insufficiency, Renal dysplasia OMIM:610896
Congenital Disorder Of Glycosylation, Type Ik
Hypogonadism, Splenomegaly, Hepatomegaly, Cardiomyopathy OMIM:608540
Werner Syndrome
Breast carcinoma, Ovarian neoplasm, Thyroid carcinoma, Sarcoma, Squamous cell carcinoma, Gastroin... ORPHA:902
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenitis, Crohn's disease, Hemolytic anemia, Perianal abscess, Nephrotic syndrome, Granuloma... OMIM:618935
Polycystic Kidney Disease 7
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal atrophy, Multiple renal cysts,... OMIM:620056
Deafness-Lymphedema-Leukemia Syndrome
Lymphadenopathy, Abnormal neutrophil count, Chronic otitis media, Bone marrow hypocellularity, He... ORPHA:3226
Bazex Syndrome
Anemia, Lung adenocarcinoma, Neoplasm, Liposarcoma, Pruritus ORPHA:166113
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hypoplasia of penis, Hernia of the abdominal wall, Aplasia/Hypoplasia of the testes, Cryptorchidi... ORPHA:3055
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Recurrent urinary tract infections, Reduced isohemaggluti... OMIM:614699
Primary Myelofibrosis
Anemia, Extramedullary hematopoiesis, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Hemangiom... ORPHA:824
Citrullinemia, Type Ii, Adult-Onset
Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Ballooning hepatoc... OMIM:603471
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent aphthous stomatitis, Rhinitis, Neutropenia, Periodontitis, Acut... ORPHA:486
Igg4-Related Aortitis
Hypereosinophilia, Antinuclear antibody positivity, Increased circulating IgG4 level, Increased c... ORPHA:449400
Waldenström Macroglobulinemia
Lymphoma, Leukemia, Normocytic anemia, Cryoglobulinemia, Abnormality of neutrophils, Lymphadenopa... ORPHA:33226
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating antibody level, Acute kidney injury, Lymph... ORPHA:859
Neuraminidase Deficiency
Ascites, Urinary excretion of sialylated oligosaccharides, Increased urinary O-linked sialopeptid... OMIM:256550
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia, Precocious puberty, High palate, Small for gestational age, Pyloric stenosi... ORPHA:96184
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Stage 5 chronic kidney disease, Supernumerary nipple, Chronic tubulointerstitial nephritis, Glome... OMIM:614376
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Isolated Splenogonadal Fusion
Abnormal epididymis morphology, Abnormality of the scrotum, Testicular mass, Polysplenia, Bilater... ORPHA:457083
Immunodeficiency 60 And Autoimmunity
Crohn's disease, Decreased circulating total IgM, Bronchiectasis, Ulcerative colitis, Pancytopeni... OMIM:618394
Autoinflammation With Episodic Fever And Lymphadenopathy
Rheumatoid factor positive, Lymphadenopathy, Hepatomegaly, Antinuclear antibody positivity, Splen... OMIM:618852
Epidermodysplasia Verruciformis, Susceptibility To, 2
Verruca plana, Squamous cell carcinoma of the skin OMIM:618231
Igg4-Related Thyroid Disease
Hypothyroidism, Increased circulating IgG4 level, Retroperitoneal fibrosis, Anti-thyroid peroxida... ORPHA:64744
Peroxisomal Acyl-Coa Oxidase Deficiency
Diffuse hepatic steatosis, Very long chain fatty acid accumulation, Elevated hepatic transaminase... OMIM:264470
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal urine output, Acute kidney injury, Stage 5 chronic kidney disease, Peritonitis, Minimal ... ORPHA:567548
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Crohn's disease, Increased circulating antibody level, Arthritis, Myositis, Pustule, Lymphadenopa... ORPHA:69126
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Failure to thrive, Increased serum bile acid concentration, Hepatomega... OMIM:619868
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Abnormal circulating IgG level, Complete or near-complete absence of specific antibody response t... ORPHA:70593
Igg4-Related Ophthalmic Disease
Increased circulating IgG4 level, Prostatitis, Eosinophilia, Sialadenitis, Orchitis, Antinuclear ... ORPHA:449563
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Immunodeficiency 98 With Autoinflammation, X-Linked
Recurrent aphthous stomatitis, Chronic oral candidiasis, B lymphocytopenia, Recurrent otitis medi... OMIM:301078
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Abnormal tubulointerstitial morphology, Nephropathy, Cholestatic liver disease, Chronic kidney di... OMIM:602114
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Xeroderma Pigmentosum, Variant Type
Cutaneous melanoma, Squamous cell carcinoma, Basal cell carcinoma OMIM:278750
Progressive Familial Intrahepatic Cholestasis
Jaundice, Neoplasm, Cholestasis, Hepatomegaly, Splenomegaly ORPHA:172
Autoimmune Hemolytic Anemia, Cold Type
Splenomegaly, Abnormal leukocyte morphology, Autoimmunity, Hemolytic anemia ORPHA:228312
Syndromic X-Linked Intellectual Disability 7
Hypogonadism, Hypoplasia of penis, Cryptorchidism, Obesity, Micropenis ORPHA:85274
Genetic Steroid-Resistant Nephrotic Syndrome
Stage 5 chronic kidney disease, Peritonitis, Minimal change glomerulonephritis, Foamy urine, Diff... ORPHA:656
Babesiosis
Leukopenia, Hyperhidrosis, Hemolytic anemia, Jaundice, Thrombocytopenia, Hepatomegaly, Renal insu... ORPHA:108
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Glomerulonephritis, Chronic kidney disease ORPHA:2172
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Cirrhosis, Abnormality of the kidney, Hepatocellular carcinoma, Portal fibrosis... ORPHA:369
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Hypothyroidism, Decreased circulating antibody level, Neutropenia in presence of anti-neutropil a... OMIM:615952
Bardet-Biedl Syndrome 16
Hypogonadism, Renal dysplasia, Stage 5 chronic kidney disease, External genital hypoplasia, Renal... OMIM:615993
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria ORPHA:2820
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Decreased circulating IgE, Decreased circulating IgA leve... OMIM:606843
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney, Large for gestational age, Overgrowth, Inguinal hernia, Umbilica... OMIM:618272
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Cryoglobulinemic Vasculitis
Glomerulopathy, Abnormality of the liver, Arthritis, Keratoconjunctivitis sicca, Hematuria, Cryog... ORPHA:91138
Heme Oxygenase 1 Deficiency
Asplenia, Increased circulating interleukin 6 concentration, Hemolytic anemia, Coombs-positive he... OMIM:614034
Familial Multinodular Goiter
Pilomatrixoma, Pleuropulmonary blastoma, Colorectal polyposis, Cerebellar medulloblastoma, Alveol... ORPHA:276399
Chromomycosis
Squamous cell carcinoma, Pruritus, Multiple cutaneous malignancies ORPHA:182
Diffuse Alveolar Hemorrhage
Anemia, Decreased circulating complement C3 concentration, Hematuria, Autoimmunity, Rheumatoid fa... ORPHA:90060
Common Variable Immunodeficiency
Lymphoma, Abnormality of the liver, Hemolytic anemia, Bronchiectasis, Decreased circulating antib... ORPHA:1572
Chondrocalcinosis 1
Chondrocalcinosis, Osteoarthritis OMIM:600668
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Elevated circulat... OMIM:619048
Postinfectious Vasculitis
Bacterial endocarditis, Inflammatory abnormality of the skin, Increased circulating antibody leve... ORPHA:48435
Immunodeficiency 54
Reduced natural killer cell count, Adrenocorticotropic hormone excess, Adrenal insufficiency, Lym... OMIM:609981
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormal lymph node morphology, Papillary renal cell carcinoma, Nodular goiter, Neoplasm of head ... ORPHA:319487
Lung Cancer
Lung adenocarcinoma, Alveolar cell carcinoma, Non-small cell lung carcinoma OMIM:211980
Follicular Lymphoma
Lymphoma, Abnormality of the peritoneum, Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly ORPHA:545
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Anemia, Subcutaneous panniculitis-like T-cell lymphoma, Autoimmunity, Pancytopenia, Hemophagocyto... OMIM:618398
Frasier Syndrome
Nephrotic syndrome, Stage 5 chronic kidney disease, Male pseudohermaphroditism, Gonadal dysgenesi... OMIM:136680
Familial Reactive Perforating Collagenosis
Perifolliculitis, Inflammatory abnormality of the skin, Crusting erythematous dermatitis, Pruritu... ORPHA:79147
Leukocyte Adhesion Deficiency
Hemolytic-uremic syndrome, Acute myeloid leukemia, Perianal abscess, Bronchiectasis, Impaired neu... ORPHA:2968
Camos Syndrome
Renal insufficiency, Nephrotic syndrome ORPHA:83472
Immunodeficiency 62
Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir... OMIM:618459
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Hyperprolinemia Type 1
Prolinuria, Nephropathy, Proteinuria ORPHA:419
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly, Myelodysplasia ORPHA:721
Cancer-Associated Retinopathy
Pancreatic adenocarcinoma, Thymoma, Prostate cancer, Uterine neoplasm, Neoplasm of the pancreas, ... ORPHA:71505
Hereditary Amyloidosis With Primary Renal Involvement
Renal tubular atrophy, Tubulointerstitial nephritis, Abnormal lymph node morphology, Anemia, Rena... ORPHA:85450
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, B lymphocytopenia, Abnormally low T cell receptor excision circl... OMIM:618987
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hypothyroidism, Decreased CD4:CD8 ratio, T lymphocytopenia, Hemolytic anemia, B lymphocytopenia, ... OMIM:606367
Pyoderma Gangrenosum
Myeloid leukemia, Rheumatoid arthritis, Increased circulating antibody level, Myelodysplasia, Myo... ORPHA:48104
Nephrotic Syndrome, Type 6
Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuri... OMIM:614196
Nephrotic Syndrome, Type 14
Hypothyroidism, Hypogonadism, Nephrotic syndrome, Stage 5 chronic kidney disease, Adrenal insuffi... OMIM:617575
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Stage 5 chronic kidney disease, Nephritis, Proteinuria, Microscopic hematuria OMIM:161900
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly, Decreased circulating total IgM, Hepatomegaly OMIM:606445
Bardet-Biedl Syndrome 10
Renal cyst, Renal insufficiency, Hypogonadism OMIM:615987
Tempi Syndrome
Increased hematocrit, Abnormality of the kidney, Polycythemia, Hemangioma, Ascites, Increased cir... ORPHA:284227
Subcorneal Pustular Dermatosis
Hypothyroidism, Hyperthyroidism, Rheumatoid arthritis, Increased circulating antibody level, Mult... ORPHA:48377
Bardet-Biedl Syndrome 18
Stage 5 chronic kidney disease, Renal insufficiency OMIM:615995
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Leukopenia, Anemia, Pruritus, Periportal fibrosis, Hyp... ORPHA:64743
Nephronophthisis
Renal insufficiency, Anemia ORPHA:655
X-Linked Agammaglobulinemia
Conjunctivitis, Anemia, Osteomyelitis, Neutropenia, Hepatitis, Skin rash, Arthritis, Autoimmunity... ORPHA:47
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Failure to thrive, Hyperlipidemia, Hypercholesterolemia, Protein-losing enteropa... OMIM:615863