Gene Summary

Name:
cyclin dependent kinase inhibitor 1A
Synonyms:
Cdkn1,  SDI1,  mda6,  p21WAF1/CIP1 Waf1,  p21WAF,  p21Cip1,  CIP1,  CAP20,  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
abnormal spleen morphology 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 heart morphology Cdkn1atm1.1(KOMP)Vlcg HOM Early adult 0.00
enlarged spleen Cdkn1atm1.1(KOMP)Vlcg HOM Early adult 0.00
enlarged epididymis Cdkn1atm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal epididymis morphology Cdkn1atm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal testis morphology Cdkn1atm1.1(KOMP)Vlcg HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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 0.0%
aorta 0.0%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
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 Hind Leg and Hip

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

10 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

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
Neoplasm of the pancreas, Pheochromocytoma, Pituitary growth hormone cell adenoma, Pituitary cort... 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
Disseminated Superficial Actinic Porokeratosis
Squamous cell carcinoma, Pruritus ORPHA:79152
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased circulating antibody level, Recurrent sinusitis, Splenomegaly, Stage 5 chronic kidney d... OMIM:615559
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Immunodeficiency 11A
Decreased circulating antibody level, Reduced antigen-specific T cell proliferation, Decreased pr... OMIM:615206
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Squamous cell carcinoma, Perifolliculitis, Chronic furunculosis, Recurrent cutaneous abscess form... OMIM:613736
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Anti-dsDNA ... OMIM:619375
Immunodeficiency 64 With Lymphoproliferation
Splenomegaly, Decreased proportion of CD4-positive T cells, Decreased lymphocyte proliferation in... OMIM:618534
Tumor Predisposition Syndrome 4
Stomach cancer, Glioma, Sarcoma, Meningioma, Breast carcinoma OMIM:609265
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
Basal cell carcinoma, Squamous cell carcinoma, Pruritus ORPHA:409
Melanoma-Pancreatic Cancer Syndrome
Squamous cell carcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Sarcoma, Pancreatic ade... OMIM:606719
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Eczematoid dermatitis, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Colorectal Cancer, Susceptibility To, 12
Carcinoma, Colorectal polyposis OMIM:615083
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Recurrent otitis media, Lymphadenopathy, I... OMIM:619220
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... OMIM:615395
Chondrosarcoma
Chondrosarcoma OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Autoimmune Lymphoproliferative Syndrome
Increased circulating antibody level, Lymphocytosis, Neoplasm of the tongue, Neoplasm of the skin... ORPHA:3261
Immunodeficiency 105
Decreased circulating total IgM, Impaired lymphocyte transformation with phytohemagglutinin, Panc... OMIM:619924
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Minimal change glomerulonephritis, De... OMIM:617006
Autoimmune Lymphoproliferative Syndrome, Type Iia
Splenomegaly, Decreased lymphocyte apoptosis, Anti-smooth muscle antibody positivity, Increased c... OMIM:603909
Epidermodysplasia Verruciformis, Susceptibility To, 3
Verrucae, Basal cell carcinoma, Squamous cell carcinoma OMIM:618267
Tuberous Sclerosis 2
Retinal hamartoma, Adenoma sebaceum, Absence of renal corticomedullary differentiation, Cardiac r... OMIM:613254
Immunodeficiency 24
Defective T cell proliferation, Reduced proportion of mucosal-associated invariant T cells, Parti... OMIM:615897
Immunodeficiency, Common Variable, 6
Enlarged kidney, Hepatomegaly, Complete or near-complete absence of specific antibody response to... OMIM:613496
Tuberous Sclerosis 1
Adenoma sebaceum, Cardiac rhabdomyoma, Subungual fibromas, Chordoma, Subependymal nodules, Gingiv... OMIM:191100
Immunodeficiency 21
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu... OMIM:614172
Adult Idiopathic Neutropenia
Recurrent aphthous stomatitis, Increased circulating IgM level, Lymphopenia, Monocytopenia, Monoc... ORPHA:2688
Ras-Associated Autoimmune Leukoproliferative Disorder
Follicular hyperplasia, Hepatomegaly, Increased circulating antibody level, Pancytopenia, Lymphoc... OMIM:614470
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent otitis media, Partial absence of specific antibody response to Haemophilus influenzae t... OMIM:618986
Autoimmune Lymphoproliferative Syndrome
Splenomegaly, Decreased lymphocyte apoptosis, Anti-smooth muscle antibody positivity, Increased c... OMIM:601859
Immunodeficiency 97 With Autoinflammation
Granuloma, Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer cell count, Decreased... OMIM:619802
Nut Midline Carcinoma
Pancreatic squamous cell carcinoma, Squamous cell carcinoma, Oropharyngeal squamous cell carcinom... ORPHA:443167
Immunodeficiency 32B
Anemia, Monocytopenia, Abnormal circulating IgG level, Sinusitis, Bronchiectasis, Neutrophilia, T... OMIM:226990
Complement Component 3 Deficiency, Autosomal Recessive
Decreased circulating complement C3 concentration, Recurrent tonsillitis, Nephrotic syndrome, Rec... OMIM:613779
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Mediastinal lympha... OMIM:300853
Acquired Ichthyosis
Lymphoma, Multiple myeloma, Sarcoma, Recurrent skin infections, Neoplasm, Autoimmunity, Renal ins... ORPHA:454
Immunodeficiency, Common Variable, 2
Hepatomegaly, Decreased circulating total IgM, Lymphadenopathy, Recurrent otitis media, Partial a... OMIM:240500
Thymoma
Aplastic anemia, Abnormal lymphocyte physiology, Neoplasm of the gastrointestinal tract, Neoplasm... ORPHA:99867
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, Polyarticular arthritis, B lymphocytopenia, Leukocytosis, Decreased circulating IgG ... OMIM:619281
Idiopathic Copper-Associated Cirrhosis
Copper accumulation in liver, Cirrhosis, Hepatic steatosis ORPHA:209919
Meige Disease
Facial edema, Recurrent bacterial skin infections, Lymph node hypoplasia, Recurrent skin infectio... ORPHA:90186
Ethanolaminosis
Cardiomegaly OMIM:227150
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Increased circulating antibody level, Congenital agranulocytosis, Acute m... OMIM:202700
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating total IgM, Recurrent otitis media, Absent peripheral lymph nodes in presenc... ORPHA:98813
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Plasmacytosis, Lymphopenia, Pn... OMIM:247800
Autoimmune Hepatitis
Increased circulating antibody level, Sclerosing cholangitis, Ascites, Splenomegaly, Diffuse hepa... ORPHA:2137
Lynch Syndrome
Neoplasm of the stomach, Neoplasm of the pancreas, Intestinal polyposis, Neoplasm of the skin, Ma... ORPHA:144
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Monocytosis, Eczematoid dermatitis, Bone marrow hypocellularity, Leukopen... OMIM:616871
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hepatic failure OMIM:261650
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Recurrent otitis media, Lymphadenopathy, Increased circulating IgG level, Herpes simplex encephal... OMIM:618982
Immunodeficiency 10
Autoimmune hemolytic anemia, Increased circulating IgG3 level, Hepatomegaly, Recurrent otitis med... OMIM:612783
Epidermodysplasia Verruciformis
Squamous cell carcinoma, Seborrheic dermatitis, Verrucae, Pustule, Recurrent skin infections ORPHA:302
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Congenital Macroglossia
Abnormal hepatic glycogen storage, Neurofibroma ORPHA:2430
Primary Membranoproliferative Glomerulonephritis
Decreased circulating complement C3 concentration, Acute kidney injury, C3 nephritic factor posit... ORPHA:54370
C3 Glomerulopathy
Decreased circulating complement C3 concentration, Acute kidney injury, C3 nephritic factor posit... ORPHA:329918
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma, Abnormal peritoneum morphology ORPHA:2023
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Increased cir... OMIM:618495
Muir-Torre Syndrome
Basal cell carcinoma, Adenoma sebaceum, Ovarian neoplasm, Malignant genitourinary tract tumor, Be... OMIM:158320
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Sarcoma, Splenomegaly ORPHA:66661
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Skin rash, Recurrent bacterial skin infections, Lym... ORPHA:276
Systemic Lupus Erythematosus 16
Decreased circulating complement C3 concentration, Anti-dsDNA antibody positivity, Perinuclear an... OMIM:614420
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy, Increased circulating IgG level, B lymphocytopenia, Increased circulating IgA le... OMIM:618048
Glycoprotein Storage Disease
Splenomegaly, Gout OMIM:232900
Alopecia Areata 1
Alopecia totalis, Autoimmunity, Alopecia universalis, Patchy alopecia OMIM:104000
Cowden Syndrome
Lipoma, Neoplasm of the skin, Neoplasm, Neoplasm of the central nervous system, Abnormality of th... ORPHA:201
Igg4-Related Kidney Disease
Enlarged kidney, Sclerosing cholangitis, Lymphocytoma cutis, Pericarditis, Increased circulating ... ORPHA:449395
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatic fibr... OMIM:614480
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Basal cell carcinoma, Pancreatic adenocarcinoma, Neoplasm of the rectum, Squamous cell carcinoma,... ORPHA:454840
Pgm3-Cdg
Chronic otitis media, Decreased proportion of CD3-positive T cells, Reduced antigen-specific T ce... ORPHA:443811
Immunodeficiency 27A
Anemia, Thrombocytosis, Lymphadenopathy, Increased circulating IgG level, Salmonella osteomyeliti... OMIM:209950
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Simple Cryoglobulinemia
Pericarditis, Abnormality of the kidney, Chronic lymphatic leukemia, Monoclonal elevation of circ... ORPHA:91139
Multiple Endocrine Neoplasia, Type I
Glucagonoma, Adenoma sebaceum, Adrenocortical adenoma, Pancreatic islet cell adenoma, Esophagitis... OMIM:131100
Combined Immunodeficiency Due To Dock8 Deficiency
Squamous cell carcinoma of the vulva, Squamous cell carcinoma, Recurrent bacterial skin infection... ORPHA:217390
Immunodeficiency 15B
Chronic oral candidiasis, Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, ... OMIM:615592
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Lymphadenopathy, Arthritis, Decreased FOXP3-expressing T cell count, Increased circulatin... OMIM:304790
Cheilitis Glandularis
Squamous cell carcinoma, Neoplasm ORPHA:1221
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Chilblain Lupus
Chronic myelomonocytic leukemia, Increased circulating antibody level, Antiphospholipid antibody ... ORPHA:90280
Sebocystomatosis
Adenoma sebaceum, Steatocystoma multiplex, Nephrolithiasis ORPHA:841
Li-Fraumeni Syndrome
Acute leukemia, Prostate neoplasm, Neoplasm of the pancreas, Soft tissue sarcoma, Choriocarcinoma... OMIM:151623
Activated Pi3K-Delta Syndrome
Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, ... ORPHA:397596
Idiopathic Non-Lupus Full-House Nephropathy
Decreased circulating complement C3 concentration, Acute kidney injury, Glomerular C3 deposition,... ORPHA:567544
Schimke Immuno-Osseous Dysplasia
Abnormal lymphocyte physiology, Bone marrow hypocellularity, Lymphopenia, Stage 5 chronic kidney ... ORPHA:1830
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level, Lymphoproliferative disorder OMIM:242880
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Complete or near-complete absence of specific antibody response to tetanus vaccine,... OMIM:620282
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Anemia, Hypospadias, Hypertrophic cardiomyopathy, Cardi... OMIM:620135
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Sclerosing cholangitis, Molluscum contagiosum, Recurrent sinusitis, Reduced natural killer cell c... OMIM:243700
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr... OMIM:616005
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly, Myelodysplasia OMIM:162830
Milroy Disease
Erysipelas, Angiosarcoma, Neoplasm of the skin, Hydrocele testis ORPHA:79452
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Nephrotic Syndrome, Type 7
Acute kidney injury, Hemolytic-uremic syndrome, Podocyte foot process effacement, Nephrotic syndr... OMIM:615008
Hypocomplementemic Urticarial Vasculitis
Glomerulopathy, Hepatomegaly, Hematuria, Lymphadenopathy, Inflammatory abnormality of the eye, Ar... ORPHA:36412
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia OMIM:620534
Familial Keratoacanthoma
Papilloma, Adenoma sebaceum, Neoplasm ORPHA:493
Leukonychia Totalis
Blepharitis, Adenoma sebaceum, Nephrolithiasis ORPHA:2387
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Elevated urinary inosine level, Neutropenia in presence of anti-neut... OMIM:613179
Mantle Cell Lymphoma
B-cell lymphoma, Splenomegaly, Lymphadenopathy ORPHA:52416
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Fibroma, Lymphadenopathy, Decreased circulating antibody level, Hypothyroidism, Recurrent pneumon... OMIM:619750
C1Q Deficiency 1
Membranoproliferative glomerulonephritis, Autoimmunity, Decreased circulating complement factor I... OMIM:613652
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgA ... OMIM:616452
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphadenopathy, Increased circulating antibody lev... ORPHA:169154
Rhabdoid Tumor
Neoplasm of the central nervous system, Renal neoplasm, Anemia, Lymphadenopathy, Hematuria, Sarco... ORPHA:69077
Immunodeficiency 23
Increased circulating IgG level, Increased circulating IgE level, Chronic mucocutaneous candidias... OMIM:615816
Ollier Disease
Anemia, Hemangioma, Chondrosarcoma, Sarcoma, Precocious puberty, Lymphangioma, Neoplasm, Multiple... ORPHA:296
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Hepatomegaly, Increased circulating IgG level, Thyroiditis, Increase... OMIM:617388
Hypogonadism, Male
Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias OMIM:241100
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni... OMIM:613011
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Splenomegaly, Psoriasiform dermatitis, Neutropenia, Thyroiditis, Pneumonia, Autoimmune thrombocyt... ORPHA:37042
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Hemophagocytosis, Intestinal inflammation, Pancytopenia, Chilblains, G... OMIM:619858
Immunodeficiency 102
Recurrent sinusitis, Leukopenia, Increased proportion of CD8-positive, alpha-beta TEMRA T cells, ... OMIM:301082
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Decreased circulating IgE, Pancytopenia, B lymphocytopenia, Increased proportion of effec... OMIM:619824
Immunodeficiency 52
Defective T cell proliferation, Lymphadenopathy, Abnormal natural killer cell count, Decreased ci... OMIM:617514
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Hemolytic-uremic syndrome, Hemophagocytosis, Lymphadenopathy, Nephrotic syndrome, N... OMIM:619644
Isolated Splenogonadal Fusion
Abnormal epididymis morphology, Ectopia of the spleen, Bilateral cryptorchidism, Unilateral crypt... ORPHA:457083
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hodgkin lymphoma, Splenomegaly, Reduced natural killer cell count, Neutropenia, T-cell lymphoma, ... ORPHA:158057
Immunodeficiency 115 With Autoinflammation
Intestinal lymphangiectasia, Anemia, Partial absence of specific antibody response to Haemophilus... OMIM:620632
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Dysgammaglobulinemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytope... OMIM:308240
Schnitzler Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Arthritis, Skin rash, Leukocytosis, Lymphoma, Increased ci... ORPHA:37748
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Lymphoma, Hyperhidrosis, Splenomegaly, Breast carcinoma, B-cell ly... ORPHA:86893
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent otitis media, B lymphocytopenia, Increased circulating IgE level, Lack of T cell functi... ORPHA:277
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Diarrhea 13
Hepatic steatosis, Elevated circulating hepatic transaminase concentration OMIM:620357
C3 Glomerulopathy 3
Mesangial matrix expansion, Glomerular subendothelial electron-dense deposits, Glomerular C3 depo... OMIM:614809
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Hepatic steatosis, Elevated circulating hepatic transaminase concentration OMIM:618400
Lipodystrophy, Partial, Acquired, Susceptibility To
Decreased circulating complement C3 concentration, Hematuria, Nephrotic syndrome, Proteinuria, Me... OMIM:608709
Patent Ductus Venosus
Decreased liver function, Hepatic steatosis OMIM:601466
Acquired Partial Lipodystrophy
Decreased circulating complement C3 concentration, Glomerulopathy, Lymphocytosis, Microscopic hem... ORPHA:79087
Xeroderma Pigmentosum Variant
Basal cell carcinoma, Squamous cell carcinoma, Melanoma ORPHA:90342
Systemic Lupus Erythematosus
Antiphospholipid antibody positivity, Malar rash, Arthritis, Pericarditis, Nephritis, Antinuclear... OMIM:152700
Idiopathic Pulmonary Hemosiderosis
Anti-smooth muscle antibody positivity, Hepatomegaly, Iron deficiency anemia, Rheumatoid factor p... ORPHA:99931
Primary Sjögren Syndrome
Increased circulating antibody level, Normochromic anemia, Optic neuritis, Biliary cirrhosis, Leu... ORPHA:289390
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Myeloproliferative disorder, Splenomegaly, Eosinophilia, Pruritus OMIM:607685
Schöpf-Schulz-Passarge Syndrome
Basal cell carcinoma, Ovarian neoplasm, Squamous cell carcinoma ORPHA:50944
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Hepatic steatosis, Elevated circulating hepatic transaminase concentration OMIM:616829
Necrobiosis Lipoidica
Inflammatory abnormality of the skin, Squamous cell carcinoma ORPHA:542592
Osteoarthritis Susceptibility 3
Joint stiffness, Osteoarthritis of the first carpometacarpal joint, Osteoarthritis, Osteoarthriti... OMIM:607850
Immunodeficiency 112
Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell... OMIM:620449
Lymphoproliferative Syndrome 3
Lymphadenopathy, Decreased circulating antibody level, Partial absence of specific antibody respo... OMIM:618261
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Thyroiditis, Abnormal lymphocyte morphology, Erythroderma,... ORPHA:39041
Immunodeficiency 25
Autoimmune hemolytic anemia, Anti-smooth muscle antibody positivity, Increased circulating IgG le... OMIM:610163
Pediatric Systemic Lupus Erythematosus
Skin rash, Discoid lupus rash, Ascites, Leukopenia, Dark urine, Lymphopenia, Nephritis, Antinucle... ORPHA:93552
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Absence of lymph node germinal center, Decreased circulating IgG level OMIM:235550
Desmoplastic Small Round Cell Tumor
Neoplasm of the central nervous system, Neoplasm of the pancreas, Ovarian neoplasm, Hepatomegaly,... ORPHA:83469
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Systemic lupus erythematosus, Recurrent otitis media, Lymphadenopath... ORPHA:444463
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Antinuclear antibody positivity, Abnormal T cell count, ... OMIM:613495
Schopf-Schulz-Passarge Syndrome
Apocrine hidrocystoma, Poroma, Basal cell carcinoma, Squamous cell carcinoma OMIM:224750
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Skin rash, Recurrent bacterial skin infections, Decreased lymphocyte proliferation... ORPHA:911
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Lymphoma, Monoclonal immunoglobulin M... OMIM:153600
Tumor Predisposition Syndrome 1
Malignant mesothelioma, Uveal melanoma, Renal cell carcinoma, Meningioma, Lung adenocarcinoma, Cu... OMIM:614327
Temple Syndrome
Hypertriglyceridemia, Hypercholesterolemia, High palate, Cryptorchidism, Decreased testicular siz... OMIM:616222
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Crohn's disease, Optic neuritis, Splenomegaly, Psoriasiform dermatitis, Thyroiditis, Decreased ci... ORPHA:436159
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Hepa... OMIM:301045
Immunodeficiency 75 With Lymphoproliferation
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphoma, Hepatosplenomeg... OMIM:619126
Sting-Associated Vasculopathy, Infantile-Onset
Anemia, Antiphospholipid antibody positivity, Increased circulating IgG level, Malar rash, Increa... OMIM:615934
Caspase 8 Deficiency
Reduced CD95-induced lymphocyte apoptosis, Lymphadenopathy, Complete or near-complete absence of ... OMIM:607271
Dermatofibrosarcoma Protuberans
Fibrosarcoma, Neoplasm of the skin ORPHA:31112
Immunodeficiency, Common Variable, 1
Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Decreased proportion of class-switched mem... OMIM:607594
Immunodeficiency 76
Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Recurrent pneumonia, Splenomegaly, Lymphop... OMIM:619164
Trichodermodysplasia-Dental Alterations Syndrome
Adenoma sebaceum, Neoplasm of the skin, Abnormal morphology of female internal genitalia ORPHA:3353
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating antibody level, Bence Jones Proteinu... ORPHA:100024
Nephrotic Syndrome, Type 23
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Podocyte foot process effa... OMIM:619201
Ichthyosis, Hystrix-Like, With Deafness
Erythroderma, Squamous cell carcinoma OMIM:602540
Complement Component 4A Deficiency
Reduced circulating CH50 activity, Glomerulonephritis, Decreased circulating complement C4 concen... OMIM:614380
Xeroderma Pigmentosum, Complementation Group F
Keratoacanthoma, Basal cell carcinoma, Squamous cell carcinoma, Neoplasm of the skin, Seborrheic ... OMIM:278760
Felty Syndrome
Rheumatoid arthritis, Splenomegaly, Neutropenia OMIM:134750
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Anemia, Secondary amenorrhea, Cardiomyopathy, Splenomegaly, Hypogonadism... OMIM:613313
Alpha-Heavy Chain Disease
Dysgammaglobulinemia, Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Lymphoma, Splenomegaly ORPHA:100025
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Decreased circulating antibody level, Abnormal plat... ORPHA:2585
Boutonneuse Fever
Lymphadenopathy, Increased circulating IgG level, Skin rash, Increased circulating IgM level, Thr... ORPHA:83313
Hereditary Leiomyomatosis And Renal Cell Cancer
Esophageal neoplasm, Cutaneous leiomyoma, Barrett esophagus, Papillary renal cell carcinoma type ... ORPHA:523
Classic Mycosis Fungoides
Hepatomegaly, Lymphadenopathy, Neoplasm of the skin, Abnormal lymphocyte morphology, Skin rash, L... ORPHA:2584
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Refractory anemia with ringed sideroblasts, Thrombo... OMIM:133180
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, Decreased specific antibody response to vaccination, Recurrent sinusitis, Sp... OMIM:614700
Focal Segmental Glomerulosclerosis 10
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chron... OMIM:256020
Congenital Atransferrinemia
Arthritis, Anemia ORPHA:1195
Immunodeficiency 84
B-cell lymphoma, B lymphocytopenia, Splenomegaly, Perianal abscess OMIM:619437
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Leukocytosis, Bone marrow hypocellularity, Autoimmunity, Multiple lineage... ORPHA:98827
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Azoospermia, Increased LDL cholest... OMIM:615703
Hemochromatosis, Type 1
Cirrhosis, Hepatomegaly, Azoospermia, Hepatocellular carcinoma, Cardiomyopathy, Testicular atroph... OMIM:235200
Cowden Syndrome 1
Carcinoma, Thyroiditis, Fibroadenoma of the breast, Lymphopenia, Decreased circulating antibody l... OMIM:158350
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypoplasia of the uterus, Hypospadias, Decreased fertility in fe... ORPHA:1916
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Increased circulating IgA level, Thrombocytopenia, Glomerulonephritis OMIM:314000
Linear Nevus Sebaceus Syndrome
Cavernous hemangioma, Adenoma sebaceum ORPHA:2612
Punctate Palmoplantar Keratoderma Type 1
Esophageal neoplasm, Basal cell carcinoma, Squamous cell carcinoma, Stomach cancer, Renal cell ca... ORPHA:79501
Amyloidosis, Familial Visceral
Hepatomegaly, Hematuria, Skin rash, Cholestasis, Nephrotic syndrome, Splenomegaly, Proteinuria, R... OMIM:105200
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t... OMIM:615513
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hepatomegaly, Hyperlipidemia, Failure to thrive in infancy, Hypercholestero... OMIM:232700
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Hepatomegaly, Cholestasis, Proteinuria, Splenomegaly, Pruritus OMIM:620010
Lymphoproliferative Syndrome 2
Aplastic anemia, EBV encephalitis, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia,... OMIM:615122
Hemochromatosis, Type 2A
Cirrhosis, Hepatomegaly, Azoospermia, Infertility, Cardiomyopathy, Splenomegaly, Amenorrhea, Dila... OMIM:602390
Selective Igm Deficiency
Decreased proportion of CD3-positive T cells, Crohn's disease, Decreased proportion of transition... ORPHA:331235
Igg4-Related Retroperitoneal Fibrosis
Renal tubular epithelial necrosis, Deep dermal perivascular inflammatory infiltrate, Psoriasiform... ORPHA:49041
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Atopic dermatitis, Hypothyroidism, Nephrotic syndrome, Hepatospl... OMIM:618999
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM, Hodgkin lymphoma, Impaired lymphocyte transformation with phytohemag... OMIM:236000
Obesity And Hypopigmentation
Hepatic steatosis OMIM:620195
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Osteomyelitis, Bronchiectasi... OMIM:608184
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Decreased circulating complement C3 concentration, Hematuria, Nephrotic syndrome, Proteinuria, Me... OMIM:613913
Atypical Hemolytic Uremic Syndrome
Acute kidney injury, Hematuria, Decreased circulating complement factor I concentration, Decrease... ORPHA:2134
Immunodeficiency 104
Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Chronic mucocutaneous candidiasis, T lymph... OMIM:608971
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis ORPHA:69063
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Hepatomegaly, Minimal change glomerulonephritis, Myositis, Increased... OMIM:620565
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Immunodeficiency 95
Increased circulating IgG3 level, Decreased circulating IgG3 level, Recurrent viral pneumonia, Ly... OMIM:619773
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Lipoprotein Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity OMIM:611771
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
Classic Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Skin rash, Lymphoma, Bone marrow hypocellularity, Hyperhidrosis, S... ORPHA:391
Nephrotic Syndrome, Type 10
Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Nephrotic syndrome, Podo... OMIM:615861
Specific Granule Deficiency 1
Recurrent otitis media, Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Recurre... OMIM:245480
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Cutaneous Neuroendocrine Carcinoma
Basal cell carcinoma, Merkel cell skin cancer, Squamous cell carcinoma of the skin, Chronic nonin... ORPHA:79140
Nephrotic Syndrome, Type 16
Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria OMIM:617783
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Neoplasm of the tongue, Skin ... ORPHA:100026
Brucellosis
Granuloma, Pericarditis, Intrarenal abscess, Hyperhidrosis, Leukopenia, Splenomegaly, Anterior uv... ORPHA:1304
Sézary Syndrome
Hepatomegaly, Lymphadenopathy, Abnormal immunoglobulin level, Neoplasm of the skin, Abnormal lymp... ORPHA:3162
Infantile Myofibromatosis
Fibroma, Abnormality of the kidney, Neoplasm of the pancreas, Gingival fibromatosis, Neoplasm of ... ORPHA:2591
Multicentric Reticulohistiocytosis
Arthritis, Histiocytosis ORPHA:139436
Isolated Follicle Stimulating Hormone Deficiency
Delayed puberty, Azoospermia, Decreased female libido, Oligozoospermia, Testicular atrophy, Delay... ORPHA:52901
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia OMIM:183350
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Hepatomegaly, Decreased circulating total IgM, Abnormal natural kill... ORPHA:331206
Lysinuric Protein Intolerance
Argininuria, Increased circulating antibody level, Decreased glomerular filtration rate, Renal fi... ORPHA:470
Yellow Nail Syndrome
Renal neoplasm, Hypoplasia of lymphatic vessels, Neoplasm of the lung, Sinusitis, Sarcoma, Biliar... ORPHA:662
Chondrocalcinosis 2
Polyarticular chondrocalcinosis, Arthropathy, Osteoarthritis OMIM:118600
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia, Splenomegaly, Systemic lupus e... ORPHA:90033
Nephrotic Syndrome, Type 15
Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney d... OMIM:617609
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Refra... ORPHA:75564
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Esophageal neoplasm, Fibroma, Abnormality of the female genitalia, Anti-smooth muscle antibody po... ORPHA:1018
Coronary Artery Disease, Autosomal Dominant, 1
Obesity, Hypercholesterolemia OMIM:608320
Systemic Sclerosis
Anti-RNA-polymerase-III-autoantibody positivity, Myocarditis, Abnormality of the kidney, Acute ki... ORPHA:90291
Autoinflammatory Disease, Systemic, With Vasculitis
Cholestasis, Increased T cell count, Anti-Sm antibody positivity, Splenomegaly, Cardiomegaly, Jau... OMIM:620376
Igg4-Related Submandibular Gland Disease
Increased circulating antibody level, Increased circulating IgG4 level, Enlarged lacrimal glands,... ORPHA:449432
Felty Syndrome
Chronic otitis media, Hepatomegaly, Anemia, Lymphadenopathy, Recurrent urinary tract infections, ... ORPHA:47612
Glomerulopathy With Fibronectin Deposits 2
Glomerular fibronectin deposits, Nephrotic syndrome, Microscopic hematuria, Proteinuria, Glomerul... OMIM:601894
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Hemangiomatosis, Anemia, Renal hypoplasia/aplasia, Abnormal vagina morphology, Asci... ORPHA:2123
Cystic Echinococcosis
Cholestatic liver disease, Jaundice, Hepatomegaly, Increased circulating antibody level, Abnormal... ORPHA:400
Severe Combined Immunodeficiency, X-Linked
Chronic oral candidiasis, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutini... OMIM:300400
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Genital ulcers, Hepatomegaly, Pneumonia, Panhypogammaglobulinemia, Aplasia of the thymus, B lymph... OMIM:602450
Insulin-Resistance Syndrome Type B
Skin rash, Biliary cirrhosis, Hodgkin lymphoma, Leukopenia, Increased circulating IgG level, Decr... ORPHA:2298
Systemic Lupus Erythematosus
Decreased circulating complement C3 concentration, Cheilitis, Hematuria, Lymphadenopathy, Anti-U1... ORPHA:536
Desmoid Tumor
Fibroma, Intestinal polyposis, Neoplasm of the skin, Abnormality of the upper urinary tract, Hydr... ORPHA:873
Lymphatic Filariasis
Abnormality of the kidney, Lymphangiectasis, Hematuria, Lymphadenopathy, Circulating immune compl... ORPHA:2035
Agammaglobulinemia, X-Linked
Decreased circulating IgE, T lymphocytopenia, Recurrent sinusitis, Lymph node hypoplasia, Neutrop... OMIM:300755
Granulomatous Slack Skin
Acute kidney injury, Abnormal lymph node morphology, Lymphoma, Hodgkin lymphoma, Nephrocalcinosis ORPHA:33111
Glomerulopathy With Fibronectin Deposits 1
Glomerular fibronectin deposits, Glomerulopathy, Nephropathy, Nephrotic syndrome, Microscopic hem... OMIM:137950
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... ORPHA:79506
Maffucci Syndrome
Neoplasm of the parathyroid gland, Hemangiomatosis, Ovarian neoplasm, Neoplasm of the adrenal cor... ORPHA:163634
Mycosis Fungoides
Neoplasm of the skin, Lymphoma, Eczematoid dermatitis, Psoriasiform dermatitis, Pruritus OMIM:254400
Immunodeficiency 70
Decreased circulating total IgG, B lymphocytopenia, Decreased circulating antibody level, Furuncl... OMIM:618969
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Skin rash, Sinusitis, Splenomegaly, Aplasia of the thymus, Lymphopenia, Decreased circulating IgG... OMIM:102700
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria OMIM:614199
Pilomatrixoma
Anti-myeloperoxidase antibody positivity, Pilomatrixoma, Neoplasm of head and neck, Pruritus ORPHA:91414
Hyper-Igd Syndrome
Chronic oral candidiasis, Lymphadenopathy, Arthritis, Increased circulating IgA level, Skin rash,... OMIM:260920
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Chronic oral candidiasis, Recurrent aphthous stomatitis, Decreased proportion of CD3-positive T c... ORPHA:275
Immunodeficiency 103, Susceptibility To Fungal Infections
Chronic oral candidiasis, Deep dermatophytosis, Lymphadenopathy, Abnormal natural killer cell cou... OMIM:212050
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Panhypogammaglobulinemia, B lymphocytopenia, Arthritis, T lymphocytopenia, Purulent rhinitis, Oti... OMIM:601457
Li-Fraumeni Syndrome
Rhabdomyosarcoma, Neoplasm of the pancreas, Neoplasm of the larynx, Choriocarcinoma, Hodgkin lymp... ORPHA:524
Syndromic Recessive X-Linked Ichthyosis
Acute leukemia, Unilateral renal agenesis, Testicular seminoma, Hypohidrosis, Hypogonadism, Crypt... ORPHA:281090
Galloway-Mowat Syndrome 2, X-Linked
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Protei... OMIM:301006
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis ORPHA:436182
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Generalized lipodystrophy, Hepatomegaly, Hypocalcemia, Reduced subcutaneous... OMIM:612526
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Cardiomyopathy, Splenomegaly, Hypogonadism OMIM:608540
Multiple Endocrine Neoplasia, Type Iv
Pancreatic endocrine tumor, Carcinoma, Primary hyperparathyroidism, Hypothyroidism, Hashimoto thy... OMIM:610755
Immunodeficiency 16
Coombs-positive hemolytic anemia, Kaposi's sarcoma, Splenomegaly, Pancytopenia OMIM:615593
Fanconi Renotubular Syndrome 5
Tubulointerstitial fibrosis, Glycosuria, Lung adenocarcinoma, Proteinuria, Stage 5 chronic kidney... OMIM:618913
Papillon-Lefèvre Syndrome
Squamous cell carcinoma, Neoplasm of the skin, Melanoma, Pustule, Chronic furunculosis, Recurrent... ORPHA:678
Progressive Osseous Heteroplasia
Abnormality of the parathyroid gland, Sarcoma, Osteoarthritis ORPHA:2762
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Limitation of joint mobility, Arthritis, Lymphopenia ORPHA:2582
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Acne, Sterile abscess, Pancytopenia, Arthritis, Elbow flexion contracture, Sterile arthritis, Cys... OMIM:604416
Familial Partial Lipodystrophy, Köbberling Type
Hepatic steatosis, Hepatomegaly, Pancreatitis ORPHA:79084
Lymphedema-Distichiasis Syndrome
Fibrosarcoma, Glomerulopathy, Patent ductus arteriosus, Webbed neck, Recurrent urinary tract infe... ORPHA:33001
Immunodeficiency 81
Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Abnormally lo... OMIM:619374
Paraneoplastic Pemphigus
B-cell lymphoma, Sarcoma, Thymoma ORPHA:63455
Ovarian Fibrothecoma
Fibrosarcoma, Ovarian fibroma, Abnormality of the ovary, Ascites, Abnormal endometrium morphology... ORPHA:314478
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Arthritis, Antinuclear antibody positivity, Mesangial hypercellularity, Crescentic glomerulonephr... OMIM:616414
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Increased circulating antibody level, Failure to thrive, T... OMIM:615285
Dietary Iron Overload Disease
Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, Hepatic periportal necrosis... ORPHA:139507
Whim Syndrome 1
Abnormal female external genitalia morphology, Decreased circulating antibody level, Verrucae, De... OMIM:193670
Bazex Syndrome
Liposarcoma, Anemia, Lung adenocarcinoma, Neoplasm, Pruritus ORPHA:166113
Werner Syndrome
Neoplasm of the oral cavity, Thyroid carcinoma, Renal neoplasm, Ovarian neoplasm, Squamous cell c... ORPHA:902
Tyrosinemia Type 1
Hepatocellular carcinoma, Splenomegaly, Generalized aminoaciduria, Hepatomegaly ORPHA:882
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Clitoral hypertrophy, Hepatomegaly, Precocious puberty in females, Failure ... ORPHA:528
Gracile Syndrome
Elevated hepatic iron concentration, Cirrhosis, Cholestasis, Hepatic steatosis ORPHA:53693
Preeclampsia/Eclampsia 1
Thrombocytopenia, Proteinuria OMIM:189800
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Myelodysplasia... ORPHA:231401
Spondyloenchondrodysplasia
Autoimmune hemolytic anemia, Decreased response to growth hormone stimulation test, Hematuria, Ju... ORPHA:1855
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Crohn's disease, Arthritis, Decreased... OMIM:616100
Anti-Glomerular Basement Membrane Disease
Glomerulopathy, Hematuria, Anemia, Arthritis, Proteinuria, Autoimmunity, Renal insufficiency ORPHA:375
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 23 concentration, Hypochromic microcytic anemia, Reduced circulat... OMIM:619632
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Aplasia/Hypoplasia of the testes, Hypoplasia of penis, Hernia of the abdominal wall, Obesity, Cry... ORPHA:3055
Aicardi Syndrome
Lipoma, Carcinoma, Metastatic angiosarcoma, Teratoma, Hemangioma, Precocious puberty, Recurrent p... OMIM:304050
Immunodeficiency 48
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Panhypogammaglobulinemi... OMIM:269840
Apc-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the pancreas, Lipoma, Odontoma, Desmoid tumors, Fibroadenoma of the breast, Duodenal ... ORPHA:247806
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Lipodyst... OMIM:616000
Branchiootorenal Syndrome 2
Renal dysplasia, Renal insufficiency OMIM:610896
Pauci-Immune Glomerulonephritis
Acute kidney injury, Pancreatitis, Decreased glomerular filtration rate, Glomerular sclerosis, Ar... ORPHA:93126
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Crohn's disease, Acute pancreatitis, Ly... OMIM:618935
Immunodeficiency, Common Variable, 7
Decreased circulating total IgG, Chronic partially decreased circulating IgG1, Recurrent urinary ... OMIM:614699
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Increased serum bile acid concentration, Increased total bilirubin, Failure to thri... OMIM:619868
Immunodeficiency 18
Defective T cell proliferation, Decreased circulating total IgM, Recurrent otitis media, Decrease... OMIM:615615
Polycystic Kidney Disease 7
Multiple renal cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insuffic... OMIM:620056
Transcobalamin Deficiency
Acute kidney injury, Methylmalonic aciduria, Pancytopenia, Decreased circulating antibody level, ... ORPHA:859
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Chronic otitis media, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, M... ORPHA:3226
Preeclampsia
Abnormality of the kidney, Acute kidney injury, Abnormality of the hepatic vasculature, Thrombocy... ORPHA:275555
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Renal cortical adenoma, Abnormal lymph node morphology, Neoplasm of head and neck, Papillary thyr... ORPHA:97290
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Citrullinemia, Type Ii, Adult-Onset
Pancreatitis, Portal inflammation, Hepatocellular carcinoma, Elevated circulating alanine aminotr... OMIM:603471
Igg4-Related Aortitis
Increased circulating antibody level, Increased circulating IgE level, Reduced circulating comple... ORPHA:449400
Diffuse Alveolar Hemorrhage
Decreased circulating complement C3 concentration, Anemia, Hematuria, Antiphospholipid antibody p... ORPHA:90060
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Lymphadenopathy, Lymphoma, Cryoglobulinemia, Splenomegaly, Perio... ORPHA:33226
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia, High palate, Precocious puberty, Pyloric stenosis, Obesity, Bifid uvula, Cl... ORPHA:96184
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Osteopenia, Antineutrophil antibody positivity, Acute myeloid leukemia, Recurren... ORPHA:486
Gardner Syndrome
Neoplasm of the pancreas, Lipoma, Odontoma, Ampulla of Vater carcinoma, Desmoid tumors, Multiple ... ORPHA:79665
Epidermodysplasia Verruciformis, Susceptibility To, 2
Squamous cell carcinoma of the skin, Verruca plana OMIM:618231
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Jaundice, Cholestasis, Splenomegaly, Neoplasm ORPHA:172
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Chronic tubulointerstitial nephritis, Hepatomegaly, Renal hypoplasia, Proteinuria, Stage 5 chroni... OMIM:614376
Neuraminidase Deficiency
Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Ascites, Urinary excretion of sialy... OMIM:256550
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Rheumatoid factor positive, Antinuclear ant... OMIM:618852
Legius Syndrome
Ovarian neoplasm, Acute monocytic leukemia, Nephrolithiasis, Non-small cell lung carcinoma, Desmo... ORPHA:137605
Papa Syndrome
Increased circulating antibody level, Lymphadenopathy, Myositis, Arthritis, Crohn's disease, Pust... ORPHA:69126
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Hepatomegaly, Splenomegaly OMIM:606445
Idiopathic Steroid-Resistant Nephrotic Syndrome
Acute kidney injury, Minimal change glomerulonephritis, Abnormal glomerular visceral epithelial c... ORPHA:567548
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Chronic oral candidiasis, Hepatomegaly, Recurrent otitis media, Hemo... OMIM:301078
Chromomycosis
Multiple cutaneous malignancies, Squamous cell carcinoma, Pruritus ORPHA:182
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Decreased circ... OMIM:615952
Immunodeficiency 60 And Autoimmunity
Decreased basophil count, Decreased circulating total IgM, Decreased circulating IgE, Pancytopeni... OMIM:618394
Spinocerebellar Ataxia Type 32
Male infertility, Testicular atrophy, Azoospermia ORPHA:276183
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Babesiosis
Jaundice, Hepatomegaly, Hyperhidrosis, Leukopenia, Splenomegaly, Thrombocytopenia, Renal insuffic... ORPHA:108
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Cholestatic liver disease, Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morph... OMIM:602114
Cancer-Associated Retinopathy
Neoplasm of the pancreas, Small cell lung carcinoma, Testicular neoplasm, Female reproductive sys... ORPHA:71505
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve... OMIM:606843
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level OMIM:235900
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Glomerulonephritis, Chronic kidney disease ORPHA:2172
Syndromic X-Linked Intellectual Disability 7
Hypoplasia of penis, Obesity, Hypogonadism, Cryptorchidism, Micropenis ORPHA:85274
Immunodeficiency 54
Hepatomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Splenomegaly, Reduced natural ... OMIM:609981
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Recurrent urinary tract infections, Decreased circulating IgG level, Leukopenia, Sp... OMIM:620210
Peroxisomal Acyl-Coa Oxidase Deficiency
Very long chain fatty acid accumulation, Hepatomegaly, Elevated circulating hepatic transaminase ... OMIM:264470
Lung Cancer
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma OMIM:211980
Genetic Steroid-Resistant Nephrotic Syndrome
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Proteinuria, Peritonitis, ... ORPHA:656
Igg4-Related Ophthalmic Disease
Palpebral edema, Sinusitis, Increased circulating IgG4 level, Enlarged lacrimal glands, Abnormali... ORPHA:449563
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Large for gestational age, Enlarged kidney, Inguinal hernia, Overgrowth, Umbilical hernia, Nephro... OMIM:618272
Cryoglobulinemic Vasculitis
Glomerulopathy, Hepatomegaly, Mediastinal lymphadenopathy, Hematuria, Circulating immune complexe... ORPHA:91138
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria ORPHA:2820
Essential Thrombocythemia
Acute leukemia, Leukocytosis, Abnormal platelet morphology, Splenomegaly, Thrombocytosis, Myelody... ORPHA:3318
Postinfectious Vasculitis
Gastrointestinal inflammation, Hematuria, Increased circulating antibody level, Bacterial endocar... ORPHA:48435
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Abnormality of the kidney, Cirrhosis, Hepatomegaly, Portal fibrosis, Increased hepatic glycogen c... ORPHA:369
Follicular Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology, Lymphoma, Splenomegaly ORPHA:545
Chondrocalcinosis 1
Osteoarthritis, Chondrocalcinosis OMIM:600668
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly, Myelodysplasia ORPHA:721
Kennedy Disease
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Testicular atrophy ORPHA:481
Camos Syndrome
Nephrotic syndrome, Renal insufficiency ORPHA:83472
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Ele... OMIM:619048
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Subcutaneous panniculitis-like T-cell lymphoma, Anemia, Hemophagocytosis, Panniculitis, Pancytope... OMIM:618398
Heme Oxygenase 1 Deficiency
Hepatomegaly, Hematuria, Lymphadenopathy, Increased circulating interleukin 6 concentration, Aspl... OMIM:614034
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Chronic oral candidiasis, Decreased specific anti-polysaccharide ant... OMIM:606367
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormal lymph node morphology, Neoplasm of head and neck, Papillary thyroid carcinoma, Chronic n... ORPHA:319487
Familial Multinodular Goiter
Basal cell carcinoma, Thyroid carcinoma, Ovarian neoplasm, Pleuropulmonary blastoma, Colorectal p... ORPHA:276399
Frasier Syndrome
Gonadal dysgenesis, Focal segmental glomerulosclerosis, Male pseudohermaphroditism, Ovarian gonad... OMIM:136680
Hereditary Amyloidosis With Primary Renal Involvement
Renal interstitial amyloid deposits, Hepatomegaly, Primary testicular failure, Anemia, Lymphadeno... ORPHA:85450
Immunodeficiency 62
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:618459
Nephrotic Syndrome, Type 6
Tubulointerstitial fibrosis, Minimal change glomerulonephritis, Focal segmental glomerulosclerosi... OMIM:614196
Bardet-Biedl Syndrome 16
External genital hypoplasia, Recurrent otitis media, Renal cyst, Renal agenesis, Hypogonadism, Re... OMIM:615993
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Bilateral cryptorchidism, Cardiomegaly, Atrial septal defect, Ventricular s... OMIM:618652
Hyperprolinemia Type 1
Prolinuria, Nephropathy, Proteinuria ORPHA:419
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circl... OMIM:618987
Renal Failure, Progressive, With Hypertension
Microscopic hematuria, Nephritis, Proteinuria, Stage 5 chronic kidney disease, Renal insufficiency OMIM:161900
Reni Syndrome
Focal segmental glomerulosclerosis, Podocyte foot process effacement, Hypothyroidism, Nephrotic s... OMIM:617575
Common Variable Immunodeficiency
Chronic otitis media, Pneumonia, Lymphadenopathy, Decreased circulating antibody level, Lymphoma,... ORPHA:1572
Asbestos Intoxication
Mediastinal lymphadenopathy, Lung adenocarcinoma, Malignant mesothelioma ORPHA:2302
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
X-Linked Agammaglobulinemia
Chronic otitis media, Anemia, Abnormality of the tonsils, Abnormality of the lymphatic system, Sk... ORPHA:47
Tempi Syndrome
Abnormality of the kidney, Increased circulating IgG level, Ascites, Hemangioma, Polycythemia, In... ORPHA:284227
Pyoderma Gangrenosum
Increased circulating antibody level, Myositis, Rheumatoid arthritis, Inflammation of the large i... ORPHA:48104
Immunodeficiency 67
Liver abscess, Abnormal natural killer cell count, Increased circulating IgE level, Complete or n... OMIM:607676
Bardet-Biedl Syndrome 10
Renal cyst, Renal insufficiency, Hypogonadism OMIM:615987
Neonatal Severe Primary Hyperparathyroidism
Abnormal circulating calcium-phosphate regulating hormone concentration, Hepatomegaly, Splenomega... ORPHA:417
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Jaundice, Anemia, Anti-smooth muscle antibody positivity, A... ORPHA:64743
Nephronophthisis
Anemia, Renal insufficiency ORPHA:655
Lymphoproliferative Syndrome, X-Linked, 2