Gene Summary

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

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
enlarged spleen Cdkn1atm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal spleen morphology Cdkn1atm1.1(KOMP)Vlcg HOM Early adult 0.00
enlarged heart atrium Cdkn1atm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal testis morphology Cdkn1atm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal lung morphology Cdkn1atm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal heart morphology Cdkn1atm1.1(KOMP)Vlcg HOM Early adult 0.00
small testis Cdkn1atm1.1(KOMP)Vlcg HOM Early adult 0.00
enlarged heart Cdkn1atm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal epididymis morphology Cdkn1atm1.1(KOMP)Vlcg HOM Early adult 0.00
decreased body length Cdkn1atm1.1(KOMP)Vlcg HOM   Early adult 1.34×10-05
enlarged epididymis 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 Not available
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 Not available
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 Not available
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 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood 0.0%
bone marrow 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cecum 2.97% (11 of 370)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
chest bone Unavailable
colon 8.73% (11 of 126)
diaphragm 0.0%
duodenum 0.79% (1 of 126)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 584)
hindlimb 0.0%
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
ileum 10.32% (13 of 126)
jejunum 3.97% (5 of 126)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
stomach pyloric region 0.0%
striatum 0.51% (3 of 584)
sublingual gland 0.0%
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
tongue 3.97% (5 of 126)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.67% (14 of 381)
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 Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

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
Pancreatic endocrine tumor, Elevated circulating growth hormone concentration, Increased circulat... 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, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Reticulum Cell Sarcoma
Neoplasm, Sarcoma 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
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Disseminated Superficial Actinic Porokeratosis
Pruritus, Squamous cell carcinoma ORPHA:79152
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Perifolliculitis, Chronic furunculosis, Recurrent cutaneous abscess formation, Acne inversa, Squa... OMIM:613736
Cerebral Sarcoma
Neoplasm, Fibrosarcoma OMIM:117600
Rhabdoid Tumor Predisposition Syndrome 2
Neoplasm of the central nervous system, Carcinoma OMIM:613325
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Systemic... OMIM:619375
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Immunodeficiency 64
Increased proportion autoreactive unresponsive CD21-/low B cells, Bronchiectasis, B-cell lymphoma... OMIM:618534
Li-Fraumeni Syndrome 2
Glioma, Meningioma, Stomach cancer, Sarcoma, 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
Pruritus, Basal cell carcinoma, Squamous cell carcinoma ORPHA:409
Melanoma-Pancreatic Cancer Syndrome
Pancreatic squamous cell carcinoma, Sarcoma, Oropharyngeal squamous cell carcinoma, Squamous cell... OMIM:606719
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated hepatic transaminase OMIM:615395
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Non-Hodgkin lymphoma, Abnormal proportion of CD4-positive T cells, Abnormal serum ... ORPHA:3261
Lichen Amyloidosis
Pruritus ORPHA:49804
Chondrosarcoma
Chondrosarcoma OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Podocyte foot process effacement, Proteinuria, Autoimmunity, Increased CD4:CD8 ratio, Impaired ly... OMIM:617006
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgM level, Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolyti... OMIM:619220
Lichen Sclerosus Et Atrophicus
Squamous cell carcinoma, Carcinoma OMIM:151590
Immunodeficiency 24
Partial absence of specific antibody response to tetanus vaccine, Respiratory tract infection, Ly... OMIM:615897
Tuberous Sclerosis 2
Chordoma, Cardiac rhabdomyoma, Gingival fibromatosis, Subungual fibromas, Optic nerve glioma, Hyp... OMIM:613254
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatic steatosis, Hepatic fibrosis, Hepatomegaly, Splenomegaly OMIM:614480
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgG level, Increased B cell count, Eosinophilia, Lymphadenopathy, Iron defi... OMIM:603909
Tuberous Sclerosis 1
Chordoma, Cardiac rhabdomyoma, Gingival fibromatosis, Subungual fibromas, Optic nerve glioma, Hyp... OMIM:191100
Immunodeficiency 21
Myeloid leukemia, Monocytopenia, Abnormal natural killer cell morphology, Lymphopenia, Neutropeni... OMIM:614172
Adult Idiopathic Neutropenia
Monocytosis, Monocytopenia, Increased circulating IgM level, Lymphopenia, Neutropenia, Recurrent ... ORPHA:2688
Muir-Torre Syndrome
Laryngeal carcinoma, Renal neoplasm, Salivary gland neoplasm, Endometrial carcinoma, Neoplasm of ... ORPHA:587
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Lymphoproliferative disorder, Hemolytic anemia, Autoimmune thrombocyt... OMIM:614470
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent bronchitis, Lymphoproliferative disorder, Decreased CD69 upregulation upon TCR activati... OMIM:300853
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgG level, Eosinophilia, Iron deficiency anemia, Increased circulating IgM ... OMIM:601859
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, T l... OMIM:618986
Immunodeficiency, Common Variable, 6
Autoimmune thrombocytopenia, Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune compl... OMIM:613496
Nut Midline Carcinoma
Neuroblastoma, Pancreatic squamous cell carcinoma, Neoplasm, Oropharyngeal squamous cell carcinom... ORPHA:443167
Epidermodysplasia Verruciformis, Susceptibility To, 3
Basal cell carcinoma, Squamous cell carcinoma OMIM:618267
Acquired Ichthyosis
Pruritus, Multiple myeloma, Autoimmunity, Lymphoma, Neoplasm, Sarcoma, Renal insufficiency, Recur... ORPHA:454
Meige Disease
Angiosarcoma, Pleural effusion, Lymph node hypoplasia, Recurrent bacterial skin infections, Facia... ORPHA:90186
Immunodeficiency 14B, Autosomal Recessive
Inflammation of the large intestine, Monocytosis, Thrombocytosis, Leukocytosis, Polyarticular art... OMIM:619281
Keratosis, Familial Actinic
Neoplasm, Uterine neoplasm, Carcinoma OMIM:148390
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis, Pn... OMIM:247800
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hepatic failure OMIM:261650
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Increased circulating antibody level, Autoimmunity, Recurrent otitis... OMIM:618495
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Increased circ... OMIM:202700
Muir-Torre Syndrome
Laryngeal carcinoma, Basal cell carcinoma, Carcinoma, Sebaceous gland carcinoma, Adenoma sebaceum... OMIM:158320
Autoimmune Hepatitis
Anti-liver cytosolic antigen type 1 antibody positivity, Thyroiditis, Sclerosing cholangitis, Jau... ORPHA:2137
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Recurrent bronchitis, Partial absence of specific antibody response to uncon... OMIM:240500
Epidermodysplasia Verruciformis
Pustule, Seborrheic dermatitis, Verrucae, Recurrent skin infections, Squamous cell carcinoma ORPHA:302
Mast Cell Sarcoma
Hepatomegaly, Sarcoma, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma, Abnormality of the peritoneum ORPHA:2023
C3 Glomerulopathy
Hematuria, Acute kidney injury, Autoimmunity, Decreased serum complement C4, Membranoproliferativ... ORPHA:329918
Immunodeficiency 72 With Autoinflammation
Increased circulating IgE level, Bronchiectasis, Recurrent otitis media, Molluscum contagiosum, I... OMIM:618982
Igg4-Related Kidney Disease
Increased circulating IgG1 level, Abnormality of mesentery morphology, Hematuria, Acute kidney in... ORPHA:449395
Alopecia Areata 1
Autoimmunity, Alopecia totalis, Patchy alopecia, Alopecia universalis OMIM:104000
Ethanolaminosis
Cardiomegaly OMIM:227150
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Monocytosis, Systemic lupus erythematosus, Acute myeloid leukemia, Leukopenia, Refractory anemia,... OMIM:616871
Immunodeficiency 27A
Increased circulating IgM level, Thrombocytosis, Pulmonary infiltrates, Increased inflammatory re... OMIM:209950
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Skin rash, Recurrent bacterial skin infections, Decreased proportion of CD4-positive helper T cel... ORPHA:276
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Glycoprotein Storage Disease
Gout, Splenomegaly OMIM:232900
X-Linked Lymphoproliferative Disease
Lymphocytosis, Burkitt lymphoma, B-cell lymphoma, Pancytopenia, Histiocytosis, Increased B cell c... ORPHA:2442
Cowden Syndrome
Adenoma sebaceum, Neoplasm, Colorectal polyposis, Conjunctival hamartoma, Breast carcinoma, Hamar... ORPHA:201
Multiple Endocrine Neoplasia, Type I
Esophagitis, Subcutaneous lipoma, Elevated circulating growth hormone concentration, Increased ci... OMIM:131100
Pgm3-Cdg
Cutaneous abscess, Bronchiectasis, Decreased proportion of CD4-positive helper T cells, Neutropen... ORPHA:443811
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Basal cell carcinoma, Non-Hodgkin lymphoma, Neoplasm of the rectum, Endometrial carcinoma, Mening... ORPHA:454840
Chilblain Lupus
Skin rash, Systemic lupus erythematosus, Increased circulating antibody level, Pruritis on hand, ... ORPHA:90280
Combined Immunodeficiency Due To Dock8 Deficiency
Anal canal squamous carcinoma, Atopic dermatitis, Recurrent bacterial skin infections, Squamous c... ORPHA:217390
Cheilitis Glandularis
Neoplasm, Squamous cell carcinoma ORPHA:1221
Schimke Immuno-Osseous Dysplasia
Non-Hodgkin lymphoma, Abnormal proportion of naive CD4 T cells, Decreased proportion of naive CD8... ORPHA:1830
Schopf-Schulz-Passarge Syndrome
Basal cell carcinoma, Apocrine hidrocystoma, Poroma, Squamous cell carcinoma OMIM:224750
Sebocystomatosis
Steatocystoma multiplex, Nephrolithiasis, Adenoma sebaceum ORPHA:841
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Lymphoproliferative disorder, Decreased circulating IgG level OMIM:242880
Mantle Cell Lymphoma
B-cell lymphoma, Lymphadenopathy, Splenomegaly ORPHA:52416
Idiopathic Non-Lupus Full-House Nephropathy
Skin rash, Acute kidney injury, Decreased serum complement C4, Synovitis, Abnormal glomerular mes... ORPHA:567544
Li-Fraumeni Syndrome
Prostate cancer, Prostate neoplasm, Soft tissue sarcoma, Lung adenocarcinoma, Nephroblastoma, Ost... OMIM:151623
Patent Ductus Venosus
Hepatic steatosis, Decreased liver function OMIM:601466
Nephrotic Syndrome, Type 7
Hemolytic anemia, Acute kidney injury, Thrombocytopenia, Glomerulonephritis, Hemolytic-uremic syn... OMIM:615008
Complement Component 3 Deficiency, Autosomal Recessive
Systemic lupus erythematosus, Membranoproliferative glomerulonephritis, Nephrotic syndrome, Renal... OMIM:613779
Combined Oxidative Phosphorylation Deficiency 19
Hepatic steatosis OMIM:615595
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Increased circulating IgE level, Autoimmune thrombocytopenia, H... OMIM:304790
Hypocomplementemic Urticarial Vasculitis
Skin rash, Pruritus, Hematuria, Renal insufficiency, Lymphadenopathy, Uveitis, Ascites, Arthritis... ORPHA:36412
Temple Syndrome
Cryptorchidism, Short philtrum, Hypercholesterolemia, Overweight, High palate, Flexion contractur... OMIM:616222
Milroy Disease
Hydrocele testis, Erysipelas, Angiosarcoma, Neoplasm of the skin ORPHA:79452
Immunodeficiency 47
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jau... OMIM:300972
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Familial Keratoacanthoma
Neoplasm, Papilloma, Adenoma sebaceum ORPHA:493
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hepatic steatosis OMIM:615238
Leukonychia Totalis
Nephrolithiasis, Blepharitis, Adenoma sebaceum ORPHA:2387
Rhabdoid Tumor
Neoplasm of the central nervous system, Renal neoplasm, Hematuria, Neoplasm of the liver, Thrombo... ORPHA:69077
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Increased circulating IgE level, Decreased proportion of CD8-po... ORPHA:169154
C1Q Deficiency
Autoimmunity, Membranoproliferative glomerulonephritis, Systemic lupus erythematosus, Decreased s... OMIM:613652
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Thyroiditis, Increased circulating IgA level, Uveitis, Punctate kera... OMIM:617388
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, T lymphocytopenia, Anti-thyroid peroxidase antibody positivity, Increased circula... ORPHA:277
Lymphoproliferative Syndrome 1
Lymphoproliferative disorder, Autoimmune thrombocytopenia, Autoimmunity, Autoimmune hemolytic ane... OMIM:613011
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Interstitial pneumonitis, Anti-liver cytosolic antigen type 1 antibody positivity, Thyroiditis, E... ORPHA:37042
Purine Nucleoside Phosphorylase Deficiency
Pure red cell aplasia, Autoimmune thrombocytopenia, Recurrent upper respiratory tract infections,... OMIM:613179
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Respiratory tract infection, Systemic lupus erythematosus, Hemolytic anemia, Autoimmune thrombocy... ORPHA:444463
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Pruritus, B-cell lymphoma, Lymphoma, Hepatomegaly, Hyperhidrosis, Breast carcinoma, Splenomegaly,... ORPHA:86893
Immunodeficiency 23
Increased circulating IgM level, Increased circulating IgE level, Hemolytic anemia, Bronchiectasi... OMIM:615816
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Increased circulating IgM level, Decreased circulating antibody ... OMIM:308240
Hypereosinophilic Syndrome, Idiopathic
Pruritus, Hepatomegaly, Splenomegaly, Pulmonary infiltrates, Myeloproliferative disorder, Eosinop... OMIM:607685
Immunodeficiency 36
Bronchiectasis, Autoimmunity, Decreased circulating antibody level, Lymphopenia, Chronic lymphati... OMIM:616005
Systemic Lupus Erythematosus
Nephritis, Systemic lupus erythematosus, Hemolytic anemia, Pericarditis, Pleuritis, Thrombocytope... OMIM:152700
Schnitzler Syndrome
Skin rash, Pruritus, Increased circulating IgM level, Leukocytosis, Lymphoma, Hepatomegaly, Anemi... ORPHA:37748
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Hodgkin Lymphoma
Pruritus, Lymphoma, Neoplasm, Hepatomegaly, Hyperhidrosis, Splenomegaly, Hemoptysis, Lymphadenopathy ORPHA:98293
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Acquired Partial Lipodystrophy
Lymphocytosis, Autoimmunity, Hepatic steatosis, Glomerulopathy, Microscopic hematuria, Decreased ... ORPHA:79087
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Hepatic steatosis, Elevated hepatic transaminase OMIM:618400
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Squamous cell carcinoma OMIM:618373
Congenital Disorder Of Glycosylation, Type Iip
Hepatic steatosis, Decreased liver function, Elevated hepatic transaminase OMIM:616829
Ollier Disease
Hemangioma, Chondrosarcoma, Multiple enchondromatosis, Neoplasm, Sarcoma, Anemia, Visceral angiom... ORPHA:296
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Omenn Syndrome
Pruritus, Autoimmunity, Thyroiditis, Hypothyroidism, Leukocytosis, Abnormal lymphocyte morphology... ORPHA:39041
Ichthyosis, Hystrix-Like, With Deafness
Erythroderma, Squamous cell carcinoma OMIM:602540
Xeroderma Pigmentosum Variant
Basal cell carcinoma, Squamous cell carcinoma, Melanoma ORPHA:90342
Pediatric Systemic Lupus Erythematosus
Skin rash, Hematuria, Decreased serum complement C4, Discoid lupus rash, Leukopenia, Myositis, Re... ORPHA:93552
Osteoarthritis Susceptibility 3
Osteoarthritis, Osteoarthritis of the first carpometacarpal joint, Joint stiffness, Osteoarthriti... OMIM:607850
Necrobiosis Lipoidica
Squamous cell carcinoma, Inflammatory abnormality of the skin ORPHA:542592
Sting-Associated Vasculopathy, Infantile-Onset
Skin rash, Pustule, Thrombocytosis, Pulmonary fibrosis, Lymphopenia, Paratracheal lymphadenopathy... OMIM:615934
Immunodeficiency 76
T lymphocytopenia, Recurrent pneumonia, Lymphopenia, B-cell lymphoma, Colitis, Recurrent bronchio... OMIM:619164
Congenital Disorder Of Glycosylation, Type Iir
Micronodular cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Jaundice,... OMIM:301045
Lipodystrophy, Partial, Acquired, Susceptibility To
Hematuria, Polycystic ovaries, Membranoproliferative glomerulonephritis, Progressive loss of faci... OMIM:608709
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Skin rash, Recurrent bacterial skin infections, Pneumonia, Abnormality of the lymp... ORPHA:911
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin, Lymphoma... OMIM:153600
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center, Abnormality of the liver, Decreased circulating IgG level OMIM:235550
Schöpf-Schulz-Passarge Syndrome
Basal cell carcinoma, Ovarian neoplasm, Squamous cell carcinoma ORPHA:50944
Colorectal Cancer, Susceptibility To, 10
Colorectal polyposis, Endometrial carcinoma, Carcinoma OMIM:612591
Classic Mycosis Fungoides
Skin rash, Pruritus, Abnormal lymphocyte morphology, Lymphoma, Hepatomegaly, Splenomegaly, Eczema... ORPHA:2584
Ataxia-Pancytopenia Syndrome
Abnormality of neutrophils, Decreased circulating antibody level, Abnormal macrophage morphology,... ORPHA:2585
Immunodeficiency 25
T lymphocytopenia, Recurrent pneumonia, Increased circulating IgM level, Increased circulating Ig... OMIM:610163
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Recurrent pneumonia, Recurrent bronchitis,... OMIM:607594
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Lymphoproliferative disorder, D... OMIM:618261
Hemochromatosis, Type 1
Cirrhosis, Azoospermia, Amenorrhea, Pleural effusion, Hepatocellular carcinoma, Impotence, Hepato... OMIM:235200
Growth Hormone Insensitivity Syndrome
Delayed eruption of teeth, Hypercholesterolemia, Abnormality of the mouth, Everted lower lip verm... ORPHA:181393
Hereditary Leiomyomatosis And Renal Cell Cancer
Pruritus, Uterine leiomyoma, Esophageal neoplasm, Multiple cutaneous leiomyomas, Cutaneous leiomy... ORPHA:523
Mu-Heavy Chain Disease
Increased circulating antibody level, Nephropathy, Hepatomegaly, Abnormal B cell count, Bence Jon... ORPHA:100024
Desmoplastic Small Round Cell Tumor
Neoplasm of the central nervous system, Ovarian neoplasm, Abnormality of the peritoneum, Hepatome... ORPHA:83469
Alpha-Heavy Chain Disease
Lymphoma, Hepatomegaly, Dysgammaglobulinemia, Ascites, Anemia, Splenomegaly, Premature ovarian in... ORPHA:100025
Hemochromatosis Type 4
Hepatic steatosis, Cirrhosis, Congenital hepatic fibrosis ORPHA:139491
Immunodeficiency 52
Coombs-positive hemolytic anemia, Recurrent pneumonia, Autoimmune thrombocytopenia, Bronchiectasi... OMIM:617514
Diethylstilbestrol Syndrome
Cryptorchidism, Decreased fertility in females, Abnormality of the uterus, Abnormal reproductive ... ORPHA:1916
Primary Membranoproliferative Glomerulonephritis
Glomerular subendothelial electron-dense deposits, Acute kidney injury, Microscopic hematuria, Ch... ORPHA:54370
Dermatofibrosarcoma Protuberans
Fibrosarcoma, Neoplasm of the skin ORPHA:31112
Erythroleukemia, Familial, Susceptibility To
Refractory anemia with ringed sideroblasts, Erythroid hyperplasia, Thrombocytopenia, Acute myeloi... OMIM:133180
Nephrotic Syndrome, Type 23
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Focal segmental glomerulo... OMIM:619201
Lymphoproliferative Syndrome 2
Hemophagocytosis, Lymphoproliferative disorder, Recurrent pneumonia, Decreased circulating antibo... OMIM:615122
Trichodermodysplasia-Dental Alterations Syndrome
Abnormal morphology of female internal genitalia, Neoplasm of the skin, Adenoma sebaceum ORPHA:3353
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Cholestasis, Jaundice... OMIM:617156
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased circulating I... OMIM:615513
Immunodeficiency 48
Eczematoid dermatitis, Panhypogammaglobulinemia, Pneumonia, Hepatomegaly, Splenomegaly OMIM:269840
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Anemia, Splenomegaly, Hypogonadism, Cardiomyopathy OMIM:613313
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Bronchiectasis, Follicular hyperplasia, Ly... OMIM:619126
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Primary Sjögren Syndrome
Cryoglobulinemia, Thyroiditis, Decreased proportion of CD4-positive helper T cells, Decreased ser... ORPHA:289390
Felty Syndrome
Pleuritis, Pericarditis, Recurrent urinary tract infections, Neutropenia, Anemia, Sinusitis, Lymp... ORPHA:47612
Immunodeficiency, Common Variable, 8, With Autoimmunity
Bronchiectasis, Decreased specific antibody response to vaccination, Thyroiditis, Generalized lym... OMIM:614700
Porokeratosis
Pruritus, Squamous cell carcinoma of the skin ORPHA:79358
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Renal insufficiency, Minimal ... OMIM:256020
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
T lymphocytopenia, Pneumonia, Hepatomegaly, Splenomegaly, Eczema, Otitis media, Lymphadenopathy OMIM:608971
Selective Igm Deficiency
Non-Hodgkin lymphoma, Cutaneous abscess, Bronchiectasis, Decreased specific antibody response to ... ORPHA:331235
Felty Syndrome
Rheumatoid arthritis, Neutropenia, Splenomegaly OMIM:134750
Unclassified Myelodysplastic Syndrome
Myelodysplasia, Autoimmunity, Leukocytosis, Acute myeloid leukemia, Multiple lineage myelodysplas... ORPHA:98827
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Glomerulonephritis, Hematuria, Increased circulating IgA level OMIM:314000
Liver Failure, Infantile, Transient
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Macrovesicular hepatic steatosis... OMIM:613070
Preeclampsia
Abnormality of the hepatic vasculature, Acute kidney injury, Autoimmunity, Polycystic ovaries, Th... ORPHA:275555
Complement Component 4A Deficiency
Glomerulonephritis, Complement deficiency, Systemic lupus erythematosus OMIM:614380
Amyloidosis, Familial Visceral
Skin rash, Hematuria, Nephropathy, Cholestasis, Hepatomegaly, Nephrotic syndrome, Splenomegaly, P... OMIM:105200
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hepatic steatosis, Hepatic failure OMIM:617872
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Azoospermia, Oligospermia, Hypertriglyceridemia, Decreased HDL cholesterol ... OMIM:615703
Igg4-Related Retroperitoneal Fibrosis
Hydrocele testis, Hematuria, Acute kidney injury, Renal insufficiency, Systemic lupus erythematos... ORPHA:49041
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Renal insufficiency, Glomerular deposits, Nephrotic syndrome ORPHA:69063
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis OMIM:615918
Classic Hodgkin Lymphoma
Skin rash, Pruritus, Lymphoma, Neoplasm, Hepatomegaly, Hyperhidrosis, Splenomegaly, Hemoptysis, B... ORPHA:391
Cystic Echinococcosis
Ovarian cyst, Peritoneal abscess, Increased circulating antibody level, Hepatic cysts, Abnormalit... ORPHA:400
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Eosinophilic liver infiltration, Hypothyroidism, Hepatic cysts, Membranous nep... OMIM:618999
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Hematuria, Membranoproliferative glomerulonephritis, Progressive loss of facial adipose tissue, N... OMIM:613913
Glycogen Storage Disease Vi
Hypercholesterolemia, Failure to thrive in infancy, Hepatomegaly, Hypertriglyceridemia, Hyperlipi... OMIM:232700
Congenital Atransferrinemia
Anemia, Arthritis ORPHA:1195
Sézary Syndrome
Pruritus, Neoplasm of the skin, Erythroderma, Abnormal lymphocyte morphology, Abnormal pleura mor... ORPHA:3162
Linear Nevus Sebaceus Syndrome
Cavernous hemangioma, Adenoma sebaceum ORPHA:2612
Immunodeficiency With Hyper-Igm, Type 4
Myelodysplasia, Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolytic anemia, Recurre... OMIM:608184
Boutonneuse Fever
Skin rash, Increased circulating IgM level, Maculopapular exanthema, Thrombocytopenia, Increased ... ORPHA:83313
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Cardiomegaly OMIM:300886
Cowden Syndrome 1
Hydrocele testis, Ovarian cyst, Subcutaneous lipoma, Goiter, Carcinoma, Thyroiditis, Decreased ci... OMIM:158350
Dyskeratosis Congenita, Autosomal Recessive 3
Squamous cell carcinoma OMIM:613988
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Azoospermia, Hepatomegaly, Hypogonadism, Anemia, Splenomegaly, Decreased mean corpus... OMIM:615234
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM, Hodgkin ... OMIM:236000
Cheilitis Glandularis
Squamous cell carcinoma, Carcinoma OMIM:118330
Tumor Predisposition Syndrome
Uveal melanoma, Cutaneous melanoma, Meningioma, Renal cell carcinoma, Lung adenocarcinoma OMIM:614327
Gamma-Heavy Chain Disease
Skin rash, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Autoimmunity, Rheumatoid art... ORPHA:100026
Autoimmune Hemolytic Anemia, Warm Type
Lymphoproliferative disorder, Systemic lupus erythematosus, Abnormal urinary color, Autoimmune he... ORPHA:90033
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Skin rash, Recurrent upper and lower respiratory tract infections, Autoimmunity, Lymphadenitis, A... ORPHA:331206
Brucellosis
Intrarenal abscess, Pericarditis, Pneumonia, Increased circulating IgG level, Hypersplenism, Leuk... ORPHA:1304
Retinitis Pigmentosa 59
Hepatomegaly, Renal insufficiency, Cryptorchidism, Micropenis OMIM:613861
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis OMIM:613877
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Decreased serum complement fac... ORPHA:2134
Hemochromatosis, Type 2A
Infertility, Cirrhosis, Azoospermia, Dilated cardiomyopathy, Amenorrhea, Hepatomegaly, Splenomega... OMIM:602390
Glomerulopathy With Fibronectin Deposits 2
Glomerulopathy, Generalized distal tubular acidosis, Microscopic hematuria, Renal cell carcinoma,... OMIM:601894
Yellow Nail Syndrome
Biliary tract neoplasm, Renal neoplasm, Pleuritis, Bronchiectasis, Hypoplasia of lymphatic vessel... ORPHA:662
Tubulointerstitial Nephritis With Uveitis
Panuveitis, Reversible renal failure, Uveitis, Circulating immune complexes, Acute tubulointersti... OMIM:607665
Cutaneous Neuroendocrine Carcinoma
Basal cell carcinoma, Multiple myeloma, Neoplasm of the outer ear, Chronic noninfectious lymphade... ORPHA:79140
Lipoprotein Glomerulopathy
Mesangial hypercellularity, Renal insufficiency, Proteinuria, Glomerulopathy OMIM:611771
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hepatic steatosis, Decreased liver function, Elevated hepatic transaminase OMIM:617093
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Myelodysplasia, Leukocytosis, Refractory anemia with ringed s... ORPHA:75564
Autoimmune Hemolytic Anemia
Hemolytic anemia, Abnormal urinary color, Autoimmunity, Lymphoma, Splenomegaly, Abnormal leukocyt... ORPHA:98375
Infantile Myofibromatosis
Abnormality of the kidney, Gingival fibromatosis, Benign neoplasm of the central nervous system, ... ORPHA:2591
Nephrotic Syndrome, Type 10
Steroid-resistant nephrotic syndrome, Podocyte foot process effacement, Minimal change glomerulon... OMIM:615861
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Unilateral vestibular Schwannoma, Carcinoma OMIM:603641
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Purulent rhinitis, Panhypogammaglobulinemia, Pneumonia, Conjunctivitis, B lymp... OMIM:601457
Igg4-Related Submandibular Gland Disease
Increased circulating IgG4 level, Facial edema, Xerostomia, Increased circulating IgG level, Abno... ORPHA:449432
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Chronic oral candidiasis, Recurrent upper and lower respiratory tract infections, Auto... ORPHA:275
Multicentric Reticulohistiocytosis
Histiocytosis, Arthritis ORPHA:139436
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Pulmonary hemorrhage, Abnormal pulmonary interstitial morphology, Mesangial hypercellularity, Hem... OMIM:616414
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Increased circulating IgE level, Autoimmune thro... OMIM:102700
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Hypogonadism, Cardiomyopathy, Splenomegaly OMIM:608540
C3 Glomerulopathy 3
Glomerulonephritis, Renal insufficiency, Hematuria, Stage 5 chronic kidney disease OMIM:614809
Lysinuric Protein Intolerance
Proteinuria, Argininuria, Leukopenia, Anemia, Hyperlysinuria, Hemophagocytosis, Cirrhosis, Abnorm... ORPHA:470
Apolipoprotein A-I Deficiency
Lymphadenopathy, Abnormality of the liver, Anemia, Splenomegaly ORPHA:425
Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolytic anemia, Decreased circulating a... OMIM:616100
Systemic Sclerosis
Hypohidrosis, Pruritus, Acute kidney injury, Pericarditis, Chronic kidney disease, Myocarditis, R... ORPHA:90291
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Recurrent tonsillitis, Hemolytic anemia, Pulmonary fibrosis, Lymphadenitis, ... OMIM:618935
Syndromic X-Linked Intellectual Disability 7
Cryptorchidism, Tooth malposition, Abnormality of dental morphology, Hypoplasia of penis, Hypogon... ORPHA:85274
Granulomatous Slack Skin
Acute kidney injury, Lymphoma, Hodgkin lymphoma, Nephrocalcinosis, Abnormality of the lymph nodes ORPHA:33111
Tyrosinemia Type 1
Hepatomegaly, Hepatocellular carcinoma, Generalized aminoaciduria, Splenomegaly ORPHA:882
Lcat Deficiency
Hemolytic anemia, Hematuria, Hepatomegaly, Splenomegaly, Renal insufficiency, Lymphadenopathy, Pr... ORPHA:650
Immunodeficiency 60
Decreased proportion of memory B cells, Bronchiectasis, Decreased circulating IgE, Pulmonary infi... OMIM:618394
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Hematuria, Abnormal respiratory system morphology, Vulvar neoplasm, Tracheobronchial leiomyomatos... ORPHA:1018
Hyper-Igd Syndrome
Skin rash, Serositis, Chronic oral candidiasis, Lymphadenitis, Leukocytosis, Renal angiomyolipoma... OMIM:260920
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Hepatic steatosis, Pancreatitis ORPHA:79084
Pauci-Immune Glomerulonephritis
Pulmonary hemorrhage, Arteritis, Acute kidney injury, Scleritis, Abnormality of the pulmonary vas... ORPHA:93126
Anti-Glomerular Basement Membrane Disease
Hematuria, Autoimmunity, Glomerulopathy, Arthritis, Anemia, Hemoptysis, Renal insufficiency, Pulm... ORPHA:375
Immunodeficiency 16
Coombs-positive hemolytic anemia, Kaposi's sarcoma, Pancytopenia, Splenomegaly OMIM:615593
Mycosis Fungoides
Pruritus, Lymphoma, Eczema, Psoriasiform dermatitis, Neoplasm of the skin OMIM:254400
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Hepatic steatosis, Elevated hepatic transaminase OMIM:610717
Insulin-Resistance Syndrome Type B
Skin rash, Pneumonia, Hodgkin lymphoma, Increased circulating IgG level, Leukopenia, Osteoarthrit... ORPHA:2298
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Macrovesicular hepatic steatosis OMIM:618234
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis ORPHA:436182
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Decreased circulating to... OMIM:618987
Citrullinemia, Type Ii, Adult-Onset
Hepatic steatosis, Hepatocellular carcinoma, Elevated hepatic transaminase, Pancreatitis OMIM:603471
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Common Variable Immunodeficiency
Recurrent bronchitis, Gastrointestinal stroma tumor, Hemolytic anemia, Autoimmune thrombocytopeni... ORPHA:1572
Fanconi Renotubular Syndrome 5
Tubulointerstitial fibrosis, Pulmonary fibrosis, Emphysema, Aminoaciduria, Glycosuria, Stage 5 ch... OMIM:618913
Glomerulopathy With Fibronectin Deposits 1
Lobular glomerulopathy, Nephropathy, Glomerulopathy, Microscopic hematuria, Stage 5 chronic kidne... OMIM:137950
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Lipodystrophy, Hepatomegaly, Hypertriglyceridemia, Splenomega... OMIM:612526
Chondrocalcinosis 2
Polyarticular chondrocalcinosis, Osteoarthritis, Arthropathy OMIM:118600
Diffuse Neonatal Hemangiomatosis
Renal insufficiency, Abnormal vagina morphology, Hemangiomatosis, Patent ductus arteriosus, Throm... ORPHA:2123
Deafness-Lymphedema-Leukemia Syndrome
Myeloproliferative disorder, Leukocytosis, Chronic otitis media, Recurrent respiratory infections... ORPHA:3226
Li-Fraumeni Syndrome
Non-Hodgkin lymphoma, Ovarian neoplasm, Neoplasm, Colorectal polyposis, Hodgkin lymphoma, Breast ... ORPHA:524
Severe Combined Immunodeficiency, X-Linked
T lymphocytopenia, Skin rash, Chronic oral candidiasis, Decreased circulating IgE, Impaired lymph... OMIM:300400
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:614199
African Iron Overload
Peritonitis, Micronodular cirrhosis, Viral hepatitis, Hepatic steatosis, Hepatocellular carcinoma... ORPHA:139507
Alpha-Thalassemia-Myelodysplastic Syndrome
Myelodysplasia, Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, A... ORPHA:231401
Lymphedema-Distichiasis Syndrome
Webbed neck, Fibrosarcoma, Recurrent urinary tract infections, Patent ductus arteriosus, Glomerul... ORPHA:33001
Lymphatic Filariasis
Hydrocele testis, Epididymitis, Abnormal lung morphology, Hematuria, Urethral obstruction, Abnorm... ORPHA:2035
Multiple Endocrine Neoplasia, Type Iv
Pancreatic endocrine tumor, Elevated circulating growth hormone concentration, Carcinoma, Hypothy... OMIM:610755
Nephrotic Syndrome, Type 15
Minimal change glomerulonephritis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:617609
Adrenomyodystrophy
Hepatic steatosis, Pituitary corticotropic cell adenoma OMIM:300270
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Increased circulating antibody level, Rheumatoid arthritis, Systemic lupus erythematosus, Antinuc... OMIM:178610
Progressive Osseous Heteroplasia
Abnormality of the parathyroid gland, Osteoarthritis, Sarcoma ORPHA:2762
Papillon-Lefèvre Syndrome
Pustule, Neoplasm of the skin, Chronic furunculosis, Recurrent cutaneous abscess formation, Recur... ORPHA:678
Isolated Splenogonadal Fusion
Hydrocele testis, Abnormality of the scrotum, Abnormal penis morphology, Polysplenia, Bilateral c... ORPHA:457083
Desmoid Tumor
Fibroma, Desmoid tumors, Hydronephrosis, Intestinal polyposis, Abnormality of the upper urinary t... ORPHA:873
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Macroglossia, Adipose tissue loss, Lipodystrophy, Polycystic ovaries, Hepat... ORPHA:528
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Thrombocytosis, Microcytic anemia, Colitis, Pancytopenia, Cystic acne, Arthritis, Knee flexion co... OMIM:604416
Ovarian Fibrothecoma
Peritonitis, Abnormality of the ovary, Pleural effusion, Fibrosarcoma, Abnormality of the endomet... ORPHA:314478
Maffucci Syndrome
Neoplasm of the parathyroid gland, Goiter, Chondrosarcoma, Ovarian neoplasm, Hemangiomatosis, Mul... ORPHA:163634
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Cryptorchidism, Short philtrum, Hypercholesterolemia, Narrow mouth, Truncal obesity, Small for ge... ORPHA:96184
Paraneoplastic Pemphigus
Thymoma, Sarcoma, B-cell lymphoma ORPHA:63455
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Limitation of joint mobility, Eosinophilia, Arthritis ORPHA:2582
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Skin rash, Autoimmune hemolytic anemia, Re... OMIM:619374
Preeclampsia/Eclampsia 1
Thrombocytopenia, Proteinuria OMIM:189800
Syndromic Recessive X-Linked Ichthyosis
Hypohidrosis, Cryptorchidism, Unilateral renal agenesis, Testicular seminoma, Renal insufficiency... ORPHA:281090
Bardet-Biedl Syndrome 16
Renal insufficiency, Bronchiolitis, Recurrent otitis media, Recurrent respiratory infections, Ext... OMIM:615993
Whim Syndrome 1
Abnormal morphology of female internal genitalia, Bronchiectasis, Recurrent upper respiratory tra... OMIM:193670
Diffuse Alveolar Hemorrhage
Ground-glass opacification, Hematuria, Antineutrophil antibody positivity, Pulmonary fibrosis, Au... ORPHA:90060
Autoimmune Hemolytic Anemia, Cold Type
Autoimmunity, Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Immunodeficiency, Common Variable, 7
Recurrent urinary tract infections, Recurrent respiratory infections, Reduced isohemagglutinin le... OMIM:614699
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Hyperplasia of the Leydig cells, Azoospermia, Bilateral breast hypoplasia, Oli... ORPHA:52901
Analbuminemia
Hypercholesterolemia, Elevated circulating transferrin concentration, Lipodystrophy, Patent ductu... OMIM:616000
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Autoimmune thrombocytopenia, Interstitial pneumonitis, Autoimm... OMIM:615952
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis, Pulmonary infiltrates OMIM:235900
Aicardi Syndrome
Hemangioma, Carcinoma, Teratoma, Recurrent pneumonia, Precocious puberty, Lipoma, Anteverted nare... OMIM:304050
Immunodeficiency 70
Decreased circulating antibody level, Decreased proportion of CD4-positive helper T cells, Recurr... OMIM:618969
Mastocytosis
Pruritus, Chronic leukemia, Hepatomegaly, Sarcoma, Splenomegaly, Mastocytosis, Acute leukemia ORPHA:98292
Galloway-Mowat Syndrome 2, X-Linked
Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Minimal change glomerul... OMIM:301006
Idiopathic Steroid-Resistant Nephrotic Syndrome
Peritonitis, Respiratory tract infection, Acute kidney injury, Focal segmental glomerulosclerosis... ORPHA:567548
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Rheumatoid factor positive, Splenomegaly,... OMIM:618852
Apc-Related Attenuated Familial Adenomatous Polyposis
Adrenocortical adenoma, Fibrosarcoma, Adenomatous colonic polyposis, Breast carcinoma, Adrenocort... ORPHA:247806
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy, Pure red cell aplasia, Anemia OMIM:618165
Spondyloenchondrodysplasia
Skin rash, Systemic lupus erythematosus, Hematuria, Autoimmune thrombocytopenia, Proteinuria, Aut... ORPHA:1855
Gracile Syndrome
Elevated hepatic iron concentration, Hepatic steatosis, Cirrhosis, Cholestasis ORPHA:53693
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Neoplasm, Jaundice, Hepatomegaly, Splenomegaly ORPHA:172
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Neoplasm of head and neck, Goiter, Nodular goiter, Chronic noninfectious lymphadenopathy, Abnorma... ORPHA:97290
Branchiootorenal Syndrome 2
Renal dysplasia, Renal insufficiency OMIM:610896
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Recurrent respiratory infections, Splenomegaly ORPHA:139406
Legionnaires Disease
Recurrent pharyngitis, Hematuria, Pericarditis, Endocarditis, Abnormal lung morphology, Myocardit... ORPHA:549
Follicular Lymphoma
Pleural effusion, Abnormality of the peritoneum, Lymphoma, Splenomegaly, Mediastinal lymphadenopa... ORPHA:545
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Abnormal natural killer cell physiology, Recurrent upper respiratory tract infe... OMIM:613101
Babesiosis
Recurrent pharyngitis, Hemolytic anemia, Thrombocytopenia, Jaundice, Hepatomegaly, Hyperhidrosis,... ORPHA:108
Bazex Syndrome
Pruritus, Liposarcoma, Neoplasm, Anemia, Lung adenocarcinoma ORPHA:166113
Gardner Syndrome
Adrenocortical adenoma, Ampulla of Vater carcinoma, Fibrosarcoma, Adenomatous colonic polyposis, ... ORPHA:79665
Gray Platelet Syndrome
Thrombocytopenia, Myelodysplasia, Splenomegaly ORPHA:721
Agammaglobulinemia, X-Linked
Prostatitis, Epididymitis, Lymph node hypoplasia, Recurrent urinary tract infections, Pneumonia, ... OMIM:300755
Coenzyme Q10 Deficiency, Primary, 3
Proteinuria, Nephrotic syndrome OMIM:614652
Immunodeficiency 54
Lymphoproliferative disorder, Adrenocorticotropic hormone excess, Adrenal insufficiency, Reduced ... OMIM:609981
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased specific anti-polysaccharide antibody level, Pulmonary interstitial lymphocyte infiltra... OMIM:606367
Epidermodysplasia Verruciformis, Susceptibility To, 2
Verruca plana, Squamous cell carcinoma of the skin OMIM:618231
Xeroderma Pigmentosum, Variant Type
Cutaneous melanoma, Basal cell carcinoma, Squamous cell carcinoma OMIM:278750
Waldenström Macroglobulinemia
Cryoglobulinemia, Pulmonary infiltrates, Abnormality of neutrophils, Pleural effusion, Normocytic... ORPHA:33226
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Igg4-Related Ophthalmic Disease
Non-Hodgkin lymphoma, Thyroiditis, Increased circulating IgG4 level, Sinusitis, Periorbital edema... ORPHA:449563
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Hemophagocytosis, Folliculitis, Acne, Decreased circulating ... OMIM:300635
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Bilateral cryptorchidism, Cardiomegaly, Patent f... OMIM:618652
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Lack of facial subcutaneous fat, Lipodystrophy, Absence of subcutaneous fat... OMIM:606721
Igg4-Related Aortitis
Increased circulating IgE level, Increased inflammatory response, Autoimmunity, Increased circula... ORPHA:449400
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Elevated urinary delta-aminolevulinic acid, Splenomegaly OMIM:206400
Neuraminidase Deficiency
Bone-marrow foam cells, Vacuolated lymphocytes, Facial edema, Hepatomegaly, Ascites, Cardiomegaly... OMIM:256550
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Cryptorchidism, Hernia of the abdominal wall, Hypoplasia of penis, Aplasia/Hypoplasia of the test... ORPHA:3055
Hyperuricemic Nephropathy, Familial Juvenile, 3
Renal insufficiency, Nephropathy OMIM:614227
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Decreased helper T cell proportion, Pancytopenia, Hypersplenism, Splenomegaly OMIM:183350
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Focal segmental glomerulosclerosis, Nephropathy, Glomerulopathy, Thrombocytopenia, Nephrotic synd... OMIM:254900
Asbestos Intoxication
Subpleural honeycombing, Ground-glass opacification, Abnormal sputum, Interlobular septal thicken... ORPHA:2302
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Pustule, Acne, Increased inflammatory response, Increased circulating antibody level, Arthritis, ... ORPHA:69126
Epidermodysplasia Verruciformis, X-Linked
Verrucae, Squamous cell carcinoma of the skin OMIM:305350
Leukocyte Adhesion Deficiency
Peritonitis, Bronchiectasis, Recurrent urinary tract infections, Pneumonia, Lymphocytic interstit... ORPHA:2968
Bardet-Biedl Syndrome 10
Renal insufficiency, Hypogonadism, Renal cyst, Abnormality of the kidney OMIM:615987
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Trimethylaminuria
Neutropenia, Splenomegaly, Anemia, Recurrent pneumonia, Trimethylaminuria OMIM:602079
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Cholestasis, Decreased liver function, Portal f... OMIM:614300
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Autoimmunity, Chronic otitis media, Pneumonia, Thrombocytopenia, Neoplasm, Hepa... ORPHA:169090
Chromomycosis
Pruritus, Multiple cutaneous malignancies, Squamous cell carcinoma ORPHA:182
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Glomerulonephritis, Chronic kidney disease ORPHA:2172
Frasier Syndrome
Focal segmental glomerulosclerosis, Gonadal dysgenesis, Stage 5 chronic kidney disease, Nephrotic... OMIM:136680
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Splenomegaly, Aplasia/Hypoplasia of the lungs, Ascites, Anemia, Hypoplasia of penis, Hypospadias ORPHA:1046
Cryoglobulinemic Vasculitis
Hematuria, Cryoglobulinemia, Viral hepatitis, Circulating immune complexes, Glomerulopathy, Hepat... ORPHA:91138
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Recurrent pneumonia, Thrombocytosis, Megaloblastic anemia, Autoimmunity, Lymphopenia, Decreased c... OMIM:617780
Autosomal Dominant Severe Congenital Neutropenia
Monocytosis, Antineutrophil antibody positivity, Lymphopenia, Leukemia, Periodontitis, Neutropeni... ORPHA:486
Marfanoid Habitus With Microcephaly And Glomerulonephritis
Glomerulonephritis, Renal insufficiency OMIM:248760
Lung Cancer
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma OMIM:211980
Secondary Intestinal Lymphangiectasia
Autoimmunity, Decreased circulating antibody level, Lymphopenia, Pleural effusion, Neoplasm, Chyl... ORPHA:90363
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Cholestatic liver disease, Chronic kidney disease, Nephropathy, Abnormal tubulointerstitial morph... OMIM:602114
Palmoplantar Carcinoma, Multiple Self-Healing
Squamous cell carcinoma, Carcinoma OMIM:615225
Lipodystrophy, Familial Partial, Type 6
Hepatic steatosis OMIM:615980
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Splenomegaly, Anemia, Anemia of inadequate ... OMIM:613673
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Lymphocytosis, Hepatomegaly, Splenomegaly OMIM:606445
Tempi Syndrome
Hemangioma, Increased hematocrit, Polycythemia, Increased circulating IgG level, Ascites, Abnorma... ORPHA:284227
Mucopolysaccharidosis-Plus Syndrome
Macrovesicular hepatic steatosis, Patent ductus arteriosus, Neutropenia, Leukopenia, Anemia, Wide... OMIM:617303
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria ORPHA:2820
X-Linked Agammaglobulinemia
Skin rash, Recurrent pneumonia, Abnormal lung morphology, Autoimmunity, Chronic otitis media, Neu... ORPHA:47
Immunodeficiency With Hyper-Igm, Type 3
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, Ne... OMIM:606843
Transcobalamin Deficiency
Acute kidney injury, Decreased circulating antibody level, Lymphopenia, Neutropenia, Thrombocytop... ORPHA:859
Familial Papillary Or Follicular Thyroid Carcinoma
Neoplasm of head and neck, Goiter, Nodular goiter, Chronic noninfectious lymphadenopathy, Papilla... ORPHA:319487
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Ele... OMIM:619048
Immunoglobulin A Deficiency 2
Autoimmunity, Decreased circulating IgA level OMIM:609529
Camos Syndrome
Renal insufficiency, Nephrotic syndrome ORPHA:83472
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Recurrent respiratory infections, Antinuclear antibody p... OMIM:613495
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Cirrhosis, Abnormality of the kidney, Hepatocellular carcinoma, Hepatomegaly, Hepatic fibrosis, P... ORPHA:369
Tularemia
Abnormal nasopharyngeal adenoid morphology, Skin rash, Cutaneous abscess, Abnormal pulmonary thor... ORPHA:3392
Cancer-Associated Retinopathy
Prostate cancer, Cutaneous melanoma, Neoplasm of the breast, Uterine neoplasm, Malignant genitour... ORPHA:71505
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased proportion of class-switched memory B cells, Cutaneous abscess, Increased circulating I... OMIM:618944
Heme Oxygenase 1 Deficiency
Hepatomegaly, Hemolytic anemia, Hematuria, Proteinuria OMIM:614034
Terminal Osseous Dysplasia
Fibroma OMIM:300244
Immunodeficiency 32B
Bronchiectasis, Pneumonia, Splenomegaly, Sinusitis, Recurrent respiratory infections OMIM:226990
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Aicardi-Goutieres Syndrome 7
Atopic dermatitis, Increased circulating antibody level, Thrombocytopenia, Hepatomegaly, Splenome... OMIM:615846
Systemic Mastocytosis With Associated Hematologic Neoplasm
Pruritus, Chronic myelomonocytic leukemia, Neutrophilia, Abnormal mast cell morphology, Eosinophi... ORPHA:98849
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia... OMIM:615285
Hyperprolinemia Type 1
Prolinuria, Nephropathy, Proteinuria ORPHA:419
Pyoderma Gangrenosum
Myeloid leukemia, Inflammation of the large intestine, Myelodysplasia, Pustule, Increased circula... ORPHA:48104
Laron Syndrome
Delayed eruption of teeth, Hypercholesterolemia, Tooth agenesis, Truncal obesity, Hypoplasia of p... ORPHA:633
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic steatosis, Cholestasis, Hepatit... ORPHA:209902
Renal Failure, Progressive, With Hypertension
Microscopic hematuria, Stage 5 chronic kidney disease, Renal insufficiency, Nephritis, Proteinuria OMIM:161900
Niemann-Pick Disease, Type B
Bone-marrow foam cells, Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Diffuse reticular or ... OMIM:607616
Werner Syndrome
Renal neoplasm, Ovarian neoplasm, Neoplasm of the oral cavity, Cutaneous melanoma, Meningioma, Ga... ORPHA:902
Bacterial Toxic-Shock Syndrome
Peritonitis, Skin rash, Recurrent urinary tract infections, Pneumonia, Myocarditis, Sinusitis, My... ORPHA:36234
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Majeed Syndrome
Hypochromic microcytic anemia, Inflammatory abnormality of the skin, Pustule, Leukocytosis, Conge... ORPHA:77297
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgM level, Increased circulating IgE level, Decreased proportion of CD8-pos... OMIM:617241
Amyloidosis, Primary Localized Cutaneous, 2
Pruritus OMIM:613955
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Congenital megaureter, Hydroureter, Renal sarcoma, Mult... OMIM:143400
Frasier Syndrome
Increased circulating gonadotropin level, Ambiguous genitalia, male, Focal segmental glomeruloscl... ORPHA:347
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation