Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
NLR family, pyrin domain containing 3
Synonyms:
NALP3,  Pypaf1,  Cias1,  Mmig1,  cryopyrin

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Nlrp3 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 predicted to be associated to Nlrp3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Albers-Schönberg Osteopetrosis
Hypocalcemia, Genu valgum, Abnormality of epiphysis morphology, Recurrent fractures, Generalized ... ORPHA:53
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Inflammation of the large intestine, Skin rash, Osteolysis, Abnormality of epiphysis morphology, ... ORPHA:324964
Complement Component 8 Deficiency, Type I
Systemic lupus erythematosus OMIM:613790
Immunodeficiency 27A
Thrombocytosis, Increased circulating IgM level, Increased inflammatory response, Leukocytosis, S... OMIM:209950
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Autoimmunity, Recurrent otitis media, Increased circulating antibody... OMIM:618495
Mu-Heavy Chain Disease
Osteoporosis, Osteolysis, Increased circulating antibody level, Weight loss, Abnormal B cell coun... ORPHA:100024
Lupus Erythematosus Tumidus
Anti-dsDNA antibody positivity, Anti-La/SS-B antibody positivity, Autoimmune antibody positivity,... ORPHA:90283
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
T lymphocytopenia, Failure to thrive secondary to recurrent infections, Pneumonia, Hepatomegaly, ... OMIM:608971
Immunodeficiency 48
Eczematoid dermatitis, Panhypogammaglobulinemia, Pneumonia, Hepatomegaly, Failure to thrive, Sple... OMIM:269840
Sickle Cell Anemia
Iron deficiency anemia, Osteoporosis, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chron... ORPHA:232
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia, Craniosynostosis, Femur fracture, Osteopetrosis, Increased bone mineral density, Pa... OMIM:259700
Osteochondrosis Of The Metatarsal Bone
Abnormality of the fifth metatarsal bone, Chondritis, Abnormality of the fourth metatarsal bone, ... ORPHA:564003
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Anti-thyroid peroxidase antibody positivity, Anti-thyroglobulin antibody ... OMIM:618534
Immunodeficiency 69
Increased circulating ferritin concentration, Skin rash, Thrombocytosis, Leukocytosis, Pancytopen... OMIM:618963
Majeed Syndrome
Hypochromic microcytic anemia, Pustule, Metaphyseal irregularity, Leukocytosis, Congenital hypopl... ORPHA:77297
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Thrombocytosis, Microcytic anemia, Colitis, Pancytopenia, Arthritis, Cystic acne, Elevated circul... OMIM:604416
Lipodystrophy, Familial Partial, Type 5
Hepatic steatosis, Lipodystrophy, Abnormal circulating lipid concentration, Hepatomegaly, Hypertr... OMIM:615238
Medial Condensing Osteitis Of The Clavicle
Patchy reduction of bone mineral density, Elevated circulating C-reactive protein concentration, ... ORPHA:57196
Rosaï-Dorfman Disease
Osteolysis, Dysgammaglobulinemia, Anemia ORPHA:158014
Systemic Lupus Erythematosus 16
Systemic lupus erythematosus OMIM:614420
Intermediate Osteopetrosis
Cortical sclerosis, Erlenmeyer flask deformity of the femurs, Recurrent fractures, Generalized os... ORPHA:210110
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, T lymphocytopenia, Anti-thyroid peroxidase antibody positivity, Increased circula... ORPHA:277
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Increased circulating IgE level, Decreased proportion of CD8-po... ORPHA:169154
Epiphyseal Dysplasia, Multiple, 3
Limited elbow extension, Abnormal hip joint morphology, Mild short stature, Limited knee extensio... OMIM:600969
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Abnormality of limb bone morphology, Abnormal serum interleukin level, Joint swelling, Abnormalit... ORPHA:85435
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Skin rash, Pustule, Osteolysis, Periostitis, Joint swelling, Stomatitis, Failure to thrive in inf... OMIM:612852
Immunodeficiency 52
Coombs-positive hemolytic anemia, Recurrent pneumonia, Autoimmune thrombocytopenia, Bronchiectasi... OMIM:617514
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Shwachman-Diamond Syndrome
Skin rash, Metaphyseal irregularity, Neutropenia, Pneumonia, Pancytopenia, Anemia, Leukopenia, Si... ORPHA:811
X-Linked Agammaglobulinemia
Hypocalcemia, Skin rash, Recurrent pneumonia, Chronic otitis media, Neutropenia, Weight loss, Thr... ORPHA:47
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Failure to thrive secondary to recurrent infections, Chronic oral candidiasis, Erythroderma, Decr... ORPHA:169160
Osteochondrosis Of The Tarsal Bone
Chondritis, Flattening of the talar dome, Abnormal tarsal ossification, Tarsal sclerosis, Tarsal ... ORPHA:563991
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Recurrent pneumonia, Thrombocytosis, Megaloblastic anemia, Decreased circulating antibody level, ... OMIM:617780
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Immunodeficiency 14B, Autosomal Recessive
Inflammation of the large intestine, Monocytosis, Thrombocytosis, Leukocytosis, Decreased circula... OMIM:619281
Thrombocytopenic Purpura, Autoimmune
Platelet antibody positive OMIM:188030
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center, Abnormality of the liver, Decreased circulating IgG level OMIM:235550
Ollier Disease
Osteolysis, Abnormal cartilage morphology, Bone pain, Multiple enchondromatosis, Joint stiffness,... ORPHA:296
Pycnodysostosis
Wormian bones, Short toe, Osteolysis, Abnormality of epiphysis morphology, Persistent open anteri... ORPHA:763
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Gorham-Stout Disease
Osteolysis, Abnormal bone ossification, Patchy reduction of bone mineral density, Abnormality of ... ORPHA:73
Mueller-Weiss Syndrome
Fragmented, irregular epiphyses, Chondritis, Limitation of movement at ankles, Tibiofibular diast... ORPHA:566943
Osteopetrosis, Autosomal Recessive 2
Genu valgum, Chronic rhinitis due to narrow nasal airway, Extramedullary hematopoiesis, Recurrent... OMIM:259710
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Systemic lupus erythematosus, Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic... ORPHA:444463
Immunodeficiency 72 With Autoinflammation
Increased circulating IgE level, Bronchiectasis, Recurrent otitis media, Molluscum contagiosum, I... OMIM:618982
Autosomal Agammaglobulinemia
Skin rash, Bronchiectasis, Chronic otitis media, Neutropenia, Conjunctivitis, Hepatitis, Agammagl... ORPHA:33110
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD69 upregulation upon TCR activation, Autoimmune thrombocytopenia, Bronchiectasis, Dec... OMIM:300853
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Wormian bones, Abnormality of the knee, Osteolysis, Abnormality of epiphysis... ORPHA:970
Familial Hemophagocytic Lymphohistiocytosis
Skin rash, Neutropenia, Maculopapular exanthema, Abnormality of tumor necrosis factor secretion, ... ORPHA:540
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatic steatosis, Hepatic fibrosis, Hypertriglyceridemia, Hepatom... OMIM:614480
Pgm3-Cdg
Cutaneous abscess, Bronchiectasis, Decreased proportion of CD4-positive helper T cells, Neutropen... ORPHA:443811
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Skin rash, Decreased proportion of CD4-positive helper T cells, Recurrent bacterial skin infectio... ORPHA:276
Complement Component C1S Deficiency
Systemic lupus erythematosus, Hashimoto thyroiditis OMIM:613783
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia, Autoimmune antibody positivity ORPHA:60026
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgG level, Eosinophilia, Iron deficiency anemia, Increased circulating IgM ... OMIM:601859
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Hemolytic anemia, Increased circulating IgE level, Chronic oral candidiasis, D... OMIM:606367
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Increased circ... OMIM:202700
Pachydermoperiostosis
Osteoporosis, Seborrheic dermatitis, Osteolysis, Joint swelling, Abnormality of epiphysis morphol... ORPHA:2796
Majeed Syndrome
Skin rash, Joint swelling, Microcytic anemia, Growth delay, Flexion contracture, Erythroid hyperp... OMIM:609628
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Increased circulating ... OMIM:614470
Eiken Syndrome
Cubitus valgus, Short toe, Abnormal bone ossification, Short phalanx of finger, Abnormal trabecul... ORPHA:79106
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgG level, Increased B cell count, Lymphadenopathy, Eosinophilia, Iron defi... OMIM:603909
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased circulating I... OMIM:615513
C1Q Deficiency
Autoimmunity, Systemic lupus erythematosus OMIM:613652
Sézary Syndrome
Pruritus, Erythroderma, Abnormal lymphocyte morphology, Hepatomegaly, Splenomegaly, Abnormal immu... ORPHA:3162
Kerion Celsi
Recurrent skin infections, Recurrent cutaneous abscess formation, Lymphadenopathy, Inflammatory a... ORPHA:499
Gnathodiaphyseal Dysplasia
Bowing of the long bones, Diaphyseal cortical sclerosis, Increased susceptibility to fractures, O... OMIM:166260
Ghosal Hematodiaphyseal Dysplasia
Abnormality of tibia morphology, Craniofacial hyperostosis, Bowing of the long bones, Abnormal co... ORPHA:1802
Immunodeficiency 25
T lymphocytopenia, Increased circulating IgM level, Increased circulating IgE level, Autoimmune h... OMIM:610163
Omenn Syndrome
Pruritus, Leukocytosis, Autoimmunity, Abnormal lymphocyte morphology, Thyroiditis, Erythroderma, ... ORPHA:39041
Felty Syndrome
Recurrent pneumonia, Osteolysis, Pericarditis, Abnormal lymphocyte morphology, Chronic otitis med... ORPHA:47612
Autosomal Dominant Hyper-Ige Syndrome
Skin rash, Craniosynostosis, Increased circulating IgE level, Joint hyperflexibility, Chronic oti... ORPHA:2314
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Increased circulating IgE level, Autoimmune thrombocytopenia, E... OMIM:304790
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypocalcemia, Hepatic steatosis, Lipodystrophy, Hepatomegaly, Hypertriglyce... OMIM:612526
Gaucher Disease Type 1
Osteolysis, Increased circulating antibody level, Growth delay, Bone pain, Increased bone mineral... ORPHA:77259
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Recurrent pneumonia, Bronchiectasis, Recur... OMIM:607594
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia... OMIM:615285
Aspergillosis
Abnormality of long bone morphology, Increased circulating IgE level, Bronchiectasis, Neutropenia... ORPHA:1163
Severe Combined Immunodeficiency, X-Linked
T lymphocytopenia, Skin rash, Chronic oral candidiasis, Decreased circulating IgE, Impaired lymph... OMIM:300400
Omenn Syndrome
Severe B lymphocytopenia, Erythroderma, Pneumonia, Thrombocytopenia, Hypoplasia of the thymus, He... OMIM:603554
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia, Genu valgum, Osteolysis, Bone cyst, Recurrent fractures, Bone pai... ORPHA:93160
Neuropathy, Hereditary Sensory, Type If
Arthropathy, Osteomyelitis, Osteolytic defects of the phalanges of the hand, Hallux valgus OMIM:615632
Schnitzler Syndrome
Skin rash, Pruritus, Increased circulating IgM level, Leukocytosis, Hepatomegaly, Anemia, Splenom... ORPHA:37748
Sting-Associated Vasculopathy, Infantile-Onset
Skin rash, Pustule, Thrombocytosis, Increased circulating IgA level, Lymphopenia, Increased circu... OMIM:615934
Complement Component 2 Deficiency
Systemic lupus erythematosus OMIM:217000
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Decreased circulating total IgM, Splenomegaly OMIM:606445
Lipodystrophy, Familial Partial, Type 6
Hepatic steatosis, Lipodystrophy, Abnormal circulating lipid concentration, Abdominal obesity, El... OMIM:615980
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Hypocalcemia, Osteoporosis, Thrombocytosis, Rickets, Thyroiditis, Stomati... OMIM:212750
Familial Expansile Osteolysis
Osteolysis, Bowing of the long bones, Bone pain, Pathologic fracture, Thin bony cortex OMIM:174810
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormality of long bone morphology, Osteolysis, Pathologic fracture, Increased susceptibility to... ORPHA:52430
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgM level, Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolyti... OMIM:619220
Specific Granule Deficiency 2
Absent neutrophil specific granules, Recurrent pneumonia, Recurrent otitis media, Neutropenia, Sa... OMIM:617475
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Hypermethioninemia, Elevated hepatic transaminase OMIM:606664
Autosomal Dominant Severe Congenital Neutropenia
Monocytosis, Lymphopenia, Leukemia, Periodontitis, Neutropenia, Pneumonia, Recurrent aphthous sto... ORPHA:486
Dermatoosteolysis, Kirghizian Type
Osteolysis, Split hand, Flexion contracture, Keratitis, Ankle swelling, Joint contracture of the ... OMIM:221810
Multiple Osteochondromas
Radial bowing, Genu valgum, Abnormality of tibia morphology, Osteolysis, Synostosis of joints, El... ORPHA:321
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Bulging epiphyses, Fibular bowing, Enlargement of the ankles, Metaphyseal irreg... OMIM:600081
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Hemophagocytosis, Folliculitis, Acne, Decreased circulating ... OMIM:300635
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Partial absence of specific antibody response to unconjugated pneumococcus v... OMIM:240500
Aggressive Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Osteoporosis, Osteolysis, Leukocytosis, Neutropenia, We... ORPHA:98850
Bacterial Toxic-Shock Syndrome
Peritonitis, Hypocalcemia, Skin rash, Elevated circulating creatinine concentration, Pneumonia, H... ORPHA:36234
Juvenile Hyaline Fibromatosis
Progressive flexion contractures, Osteolysis, Joint stiffness, Abnormal diaphysis morphology ORPHA:2028
Congenital Disorder Of Glycosylation, Type Iip
Hypercholesterolemia, Elevated hepatic transaminase, Hepatic steatosis, Decreased liver function,... OMIM:616829
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Failure to thrive in infancy, B lymphocytop... OMIM:618987
Pigmented Villonodular Synovitis
Abnormality of the knee, Localized osteoporosis, Abnormal hip joint morphology, Osteolysis, Joint... ORPHA:66627
Poems Syndrome
Clubbing of fingers, Metaphyseal sclerosis, Thrombocytosis, Sclerosis of hand bone, Increased cir... ORPHA:2905
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypocalcemia, Decreased prealbumin level, Interstitial pneumonitis, Eczematoid dermatitis, Thyroi... ORPHA:37042
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Hepatic steatosis, Hypertriglyceridemia, Decreased HDL cholesterol concentr... OMIM:615703
Immunodeficiency 55
Neutropenia, Postnatal growth retardation, Short stature, Intrauterine growth retardation, Eczema... OMIM:617827
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Lipoatrophy, Hypertriglyceridemia OMIM:613877
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Skin rash, Failure to thrive in infancy, Splenomegaly OMIM:619175
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Osteolysis of patellae, Osteolysis of scaphoids, Short 4th metacarpal, Enlar... ORPHA:50809
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Increased circulating IgM level, Decreased circulating antibody ... OMIM:308240
Congenital Disorder Of Glycosylation, Type Iik
Osteoporosis, Joint laxity, Growth delay, Thrombocytopenia, Metaphyseal dysplasia, Failure to thr... OMIM:614727
Scleroderma
Osteomyelitis, Myelitis, Pericarditis, Flexion contracture, Uveitis, Finger swelling, Abnormal ph... ORPHA:801
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Alpha-Heavy Chain Disease
Growth delay, Hepatomegaly, Dysgammaglobulinemia, Ascites, Anemia, Splenomegaly, Premature ovaria... ORPHA:100025
Mycetoma
Osteoporosis, Abnormality of the knee, Bone cyst, Recurrent bacterial skin infections, Painless f... ORPHA:2583
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... OMIM:618261
Plin1-Related Familial Partial Lipodystrophy
Hepatic steatosis, Lipoatrophy, Hepatic fibrosis, Hypertriglyceridemia, Loss of gluteal subcutane... ORPHA:280356
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Systemic... OMIM:619375
Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolytic anemia, Decreased circulating a... OMIM:616100
Brucellosis
Pericarditis, Pneumonia, Weight loss, Increased circulating IgG level, Small for gestational age,... ORPHA:1304
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Hyperlipoproteinemia, Type Id
Colitis, Hepatomegaly, Failure to thrive, Splenomegaly, Hyperlipoproteinemia OMIM:615947
Mantle Cell Lymphoma
Weight loss, Lymphadenopathy, Splenomegaly ORPHA:52416
Gaucher Disease
Arthrogryposis multiplex congenita, Bone pain, Increased bone mineral density, Pancytopenia, Dela... ORPHA:355
Immunodeficiency 76
T lymphocytopenia, Recurrent pneumonia, Lymphopenia, Growth delay, Colitis, B lymphocytopenia, Sp... OMIM:619164
Adult Idiopathic Neutropenia
Monocytosis, Monocytopenia, Increased circulating IgM level, Lymphopenia, Neutropenia, Recurrent ... ORPHA:2688
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Pseudoachondroplasia
Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Joint laxity, Flat ace... ORPHA:750
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated hepatic transaminase OMIM:615395
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating antibody level, Growth delay, Short stature, Failure to thrive, Recurrent s... OMIM:617744
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Osteolysis of patellae, Osteolysis of scaphoids, Short 4th metacarpal, Synov... OMIM:609655
Holoprosencephaly, Recurrent Infections, And Monocytosis
Monocytosis, Short finger, Tapered finger, Failure to thrive, Short toe, Recurrent skin infection... OMIM:610680
Autosomal Recessive Distal Osteolysis Syndrome
Osteolysis, Short stature, Short distal phalanx of finger ORPHA:2776
Immunodeficiency 24
Partial absence of specific antibody response to tetanus vaccine, Defective T cell proliferation,... OMIM:615897
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Abnormal natural killer cell physiology, Decreased circulating antibody level, ... OMIM:613101
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Hepatic steatosis, Mildly elevated creatine kinase, Elevated hepatic transaminase OMIM:618400
Multiple Epiphyseal Dysplasia Type 1
Hip dysplasia, Genu valgum, Disproportionate short stature, Finger joint hypermobility, Knee pain... ORPHA:93308
Combined Oxidative Phosphorylation Deficiency 34
Hepatic steatosis, Hepatomegaly, Failure to thrive, Hepatic failure, Vomiting OMIM:617872
Glycogen Storage Disease Vi
Hypercholesterolemia, Elevated hepatic transaminase, Hyperlipidemia, Failure to thrive in infancy... OMIM:232700
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Skin rash, Elevated hepatic transaminase, Lymphadenitis, Autoimmune hemolytic anemia, Decreased p... ORPHA:331206
Coccidioidomycosis
Peritonitis, Skin rash, Abnormality of long bone morphology, Pericarditis, Pneumonia, Abnormality... ORPHA:228123
Hyaline Fibromatosis Syndrome
Osteoporosis, Osteopenia, Osteolysis, Progressive flexion contractures OMIM:228600
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Clubbing of fingers, Hypoproteinemia, Thrombocytosis, Decreased circulati... OMIM:226300
Chilblain Lupus
Skin rash, Systemic lupus erythematosus, Increased circulating antibody level, Pruritis on hand, ... ORPHA:90280
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Osteolysis, Abnormality of epiphysis morphology, Metacarpal osteolysis, ... ORPHA:2774
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Skin rash, Pruritus, Maculopapular exanthema, Hepatomeg... ORPHA:98848
Masp2 Deficiency
Systemic lupus erythematosus OMIM:613791
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
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemia, Bulging epiphyses, Fibular bowing, Enlargement of the ankles, Metaphyseal irreg... OMIM:241530
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Bronchiectasis, Follicular hyperplasia, He... OMIM:619126
Infantile Myofibromatosis
Osteolysis, Chondrocalcinosis, Bone cyst, Hypercalcemia, Abnormality of the metaphysis, Limitatio... ORPHA:2591
Neuropathy, Hereditary Sensory And Autonomic, Type Iib
Osteomyelitis, Osteolytic defects of the phalanges of the hand OMIM:613115
Candidiasis, Familial, 2
Increased circulating IgE level, Chronic oral candidiasis, Hypereosinophilia, Deep dermatophytosi... OMIM:212050
Dermatoosteolysis, Kirghizian Type
Osteolysis, Tarsal synostosis, Keratitis, Abnormal diaphysis morphology, Abnormality of the wrist... ORPHA:1657
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Growth delay, Hepatomegaly, Failure to thrive, Eczema, Lymphadenop... OMIM:615895
Nestor-Guillermo Progeria Syndrome
Osteoporosis, Osteolytic defects of the distal phalanges of the hand, Delayed closure of the ante... OMIM:614008
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypophosphatemia, Bulging epiphyses, Femoral bowing, Fibular bowing, Subperiosteal bone resorptio... OMIM:264700
Immunodeficiency 47
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Decreased circulating antibody level... OMIM:300972
Combined Oxidative Phosphorylation Deficiency 19
Hepatic steatosis, Failure to thrive OMIM:615595
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Skin rash, Neutropenia, Thrombocytopenia, Jaundice, Hepatomegaly, Conjunctiviti... OMIM:603552
Osteosarcoma
Osteolysis, Joint swelling, Weight loss, Abnormality of the femoral metaphysis, Abnormality of th... ORPHA:668
Immunodeficiency With Hyper-Igm, Type 4
Bronchiectasis, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Impaired Ig class switc... OMIM:608184
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Erlenmeyer flask deformity of the femurs, Thrombocytopenia, Anemia, Osteopenia, Hepatosplenomegaly OMIM:610539
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Skin rash, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopen... ORPHA:911
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Elevated ci... OMIM:610717
Liver Failure, Infantile, Transient
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Macrovesicular hepatic steatosis... OMIM:613070
Obesity
Increased waist to hip ratio, Decreased resting energy expenditure, Obesity OMIM:601665
Apolipoprotein A-I Deficiency
Lymphadenopathy, Abnormality of the liver, Anemia, Splenomegaly ORPHA:425
Glycoprotein Storage Disease
Gout, Splenomegaly OMIM:232900
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Cholestasis, Jaundice... OMIM:617156
Drug Rash With Eosinophilia And Systemic Symptoms
Lymphocytosis, Skin rash, Pustule, Elevated hepatic transaminase, Interstitial pneumonitis, Thyro... ORPHA:139402
Vitamin D-Dependent Rickets, Type 2A
Hypophosphatemia, Bulging epiphyses, Femoral bowing, Fibular bowing, Subperiosteal bone resorptio... OMIM:277440
Benign Cephalic Histiocytosis
Histiocytosis, Skin rash, Inflammatory abnormality of the skin ORPHA:157997
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Flexion contracture, Hypocholesterolemia, Decreased circulating IgA level, Hypoal... OMIM:212065
H Syndrome
Osteolysis, Bronchiectasis, Microcytic anemia, Camptodactyly, Delayed skeletal maturation, Recurr... ORPHA:168569
Lymphoproliferative Syndrome 1
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Autoimmunity, Decreased proportion of C... OMIM:613011
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Diarrhea, Hypersplenism, Vomiting, Cirrhosis, Increased hepatic echogenicit... OMIM:278000
Epiphyseal Dysplasia, Multiple, 1
Genu valgum, Short phalanx of finger, Mild short stature, Generalized joint laxity, Hip osteoarth... OMIM:132400
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Abscess, Recurrent pneumonia, Recurrent tonsillitis, Hemolytic anemia, Lymphadenitis, Lymphopenia... OMIM:618935
Immunodeficiency 50
Eczema, Lymphopenia, Neutropenia, Decreased circulating antibody level OMIM:300988
Proteasome-Associated Autoinflammatory Syndrome 2
Skin rash, Increased circulating antibody level, Thrombocytopenia, Failure to thrive, Lymphadenop... OMIM:618048
Frank-Ter Haar Syndrome
Camptodactyly of finger, Osteolysis, Genu recurvatum, Abnormality of the metacarpal bones, Joint ... ORPHA:137834
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Monocytosis, Acute myeloid leukemia, Leukopenia, Refractory anemia, Eczema, Bone marrow hypocellu... OMIM:616871
Mast Cell Sarcoma
Weight loss, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Immunodeficiency 51
Folliculitis, Pustule, Cutaneous abscess, Chronic oral candidiasis, Recurrent otitis media, Recur... OMIM:613953
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia, Recurrent otitis media, Defective T ce... OMIM:615615
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Chronic diarrhea,... OMIM:618805
Congenital Disorder Of Glycosylation, Type Iir
Micronodular cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Decreased circulating a... OMIM:301045
Tularemia
Abnormal nasopharyngeal adenoid morphology, Skin rash, Cutaneous abscess, Leukocytosis, Increased... ORPHA:3392
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Thrombocytosis, Abnormal erythrocyte morphology, Bone marrow hypocellularit... ORPHA:86841
Juvenile Arthritis
Leukocytosis, Skin rash, Thrombocytosis OMIM:618795
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Decreased plasma ... OMIM:619048
Classic Hodgkin Lymphoma
Skin rash, Osteolysis, Bone pain, Weight loss, Splenomegaly, Bone marrow hypocellularity ORPHA:391
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Failure to thrive secondary to recurrent infections, Purulent rhinitis, Panhyp... OMIM:601457
Paget Disease Of Bone 4
Osteolysis, Bone pain OMIM:606263
Leishmaniasis
Elevated hepatic transaminase, Abnormal macrophage morphology, Increased circulating antibody lev... ORPHA:507
Sclerosteosis
2-3 finger syndactyly, Finger syndactyly, Craniofacial hyperostosis, Abnormal cortical bone morph... ORPHA:3152
Alopecia Areata 1
Autoimmunity OMIM:104000
Brachydactylous Dwarfism, Mseleni Type
Osteoarthritis of the elbow, Protrusio acetabuli, Stiff shoulders, Hip osteoarthritis, Severe sho... ORPHA:2619
Roifman Syndrome
Decreased circulating antibody level, Recurrent otitis media, Postnatal growth retardation, Lymph... ORPHA:353298
Immunodeficiency 36
Bronchiectasis, Autoimmunity, Decreased circulating antibody level, Lymphopenia, Chronic lymphati... OMIM:616005
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased proportion of class-switched memory B cells, Atopic dermatitis, Cutaneous abscess, Incr... OMIM:618944
Epiphyseal Dysplasia, Multiple, 5
Genu valgum, Hypoplasia of the capital femoral epiphysis, Metaphyseal irregularity, Delayed ossif... OMIM:607078
Fibrous Dysplasia Of Bone
Abnormality of tibia morphology, Bone pain, Pathologic fracture, Hypercalcemia, Thin bony cortex,... ORPHA:249
Erdheim-Chester Disease
Skin rash, Osteolysis, Joint swelling, Abnormality of epiphysis morphology, Bone pain, Weight los... ORPHA:35687
Lymphoproliferative Syndrome 2
Hemophagocytosis, Recurrent pneumonia, Decreased circulating antibody level, Uveitis, Pancytopeni... OMIM:615122
Hip Dysplasia, Beukes Type
Hip dysplasia, Abnormal bone ossification, Abnormal ossification involving the femoral head and n... ORPHA:2114
Patent Ductus Venosus
Hepatic steatosis, Hyperammonemia, Decreased liver function, Hypergalactosemia OMIM:601466
Immunodeficiency With Hyper-Igm, Type 3
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, Ne... OMIM:606843
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Skin rash, Thrombocytosis, Leukocytosis, Decreased circulating antibody level, Lymphopenia, Recur... OMIM:615688
Aicardi-Goutieres Syndrome 7
Atopic dermatitis, Increased circulating antibody level, Thrombocytopenia, Hepatomegaly, Splenome... OMIM:615846
Neutropenia, Chronic Familial
Clubbing of fingers, Increased circulating antibody level, Periodontitis, Neutropenia, Clubbing OMIM:162700
Xanthoma Disseminatum
Osteolysis ORPHA:158003
Sapho Syndrome
Inflammation of the large intestine, Skin rash, Pustule, Osteolysis, Palmoplantar pustulosis, Cra... ORPHA:793
Dysplastic Cortical Hyperostosis
Abnormality of limb bone morphology, Limb undergrowth, Increased bone mineral density, Abnormal c... ORPHA:2204
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicu... ORPHA:2790
Hyperostosis Corticalis Generalisata
Diaphyseal thickening, Cranial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone m... ORPHA:3416
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Leukocytosis, Lymphadenopathy, Splenomegaly, Recurrent aphthous stomatitis, Erythema n... OMIM:611762
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Hepatic steatosis, Lipoatrophy, Pancreatitis ORPHA:79084
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgE, Sclerosing cholangitis, Neutropenia, Decreased T cell activation, Chro... OMIM:308230
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Pruritus, Weight loss, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:86893
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Aplasia of the thymus, Lymph node hypoplasia, Panhypogammaglobulinemia, Pneumonia... OMIM:602450
Weismann-Netter Syndrome
Squared iliac bones, Abnormality of tibia morphology, Bowing of the long bones, Abnormal cortical... ORPHA:3344
Coronary Artery Disease, Autosomal Dominant 2
Osteoporosis, Hypercholesterolemia, Gout, Hypertriglyceridemia, Hyperlipidemia OMIM:610947
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Fibular bowing, Genu valgum, Generalized bone demineralization, Metaphyseal ir... OMIM:600785
Classic Mycosis Fungoides
Skin rash, Pruritus, Abnormal lymphocyte morphology, Hepatomegaly, Splenomegaly, Eczema, Lymphade... ORPHA:2584
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Rheumatoid factor positive, Splenomegaly,... OMIM:618852
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemia, Bulging epiphyses, Fibular bowing, Enlargement of the ankles, Metaphyseal irreg... OMIM:300554
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Oste... ORPHA:1879
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemia, Bone pain, Postnatal growth retardation, Increased susceptibility to fractures, Thi... ORPHA:289157
Gamma-Heavy Chain Disease
Skin rash, Osteolysis, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal lymphoc... ORPHA:100026
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Hepatomegaly, Recurrent skin infections, Anemia, Sple... OMIM:612840
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Reticuloendotheliosis, X-Linked
Jaundice, Hepatosplenomegaly, Anemia, Lymphadenopathy OMIM:312500
Cinca Syndrome
Delayed closure of the anterior fontanelle, Abnormality of neutrophils, Leukocytosis, Abnormal gr... ORPHA:1451
Immunodeficiency 61
Recurrent otitis media, Recurrent sinusitis, Obesity, Agammaglobulinemia, Arthritis OMIM:300310
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Ulcerative colitis, Elevated circulating C-reactive protein concentration, Anemia OMIM:619398
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hepatic steatosis, Decreased liver function, Elevated hepatic transaminase, Failure to thrive OMIM:617093
Rothmund-Thomson Syndrome
Skin rash, Abnormal trabecular bone morphology, Neutropenia, Hypoplasia of the ulna, Aplasia/Hypo... ORPHA:2909
T-Cell Receptor-Alpha/Beta Deficiency
Autoimmunity, Failure to thrive, Hypereosinophilia, Lymphadenopathy OMIM:615387
Idiopathic Hypereosinophilic Syndrome
Joint swelling, Chronic hepatitis, Anemia, Neutrophilia, Eczema, Eosinophilia, Thrombocytopenia, ... ORPHA:3260
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Macrovesicular hepatic steatosis, Failure to thrive OMIM:618234
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteomyelitis leading to amputation due to slow healing fractures, Metaphyseal striations, Diaphy... OMIM:112250
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Hyperbilirubinemia, Hypermethioninemia, Cholest... OMIM:614300
Maffucci Syndrome
Osteolysis, Growth delay, Recurrent fractures, Bone pain, Multiple enchondromatosis, Short stature ORPHA:163634
Q Fever
Endocarditis, Pericarditis, Increased circulating antibody level, Cholecystitis, Granuloma, Pneum... ORPHA:781
Immunodeficiency, Common Variable, 8, With Autoimmunity
Bronchiectasis, Thyroiditis, Decreased specific antibody response to vaccination, Generalized lym... OMIM:614700
Generalized Pseudohypoaldosteronism Type 1
Pustule, Atopic dermatitis, Proportionate short stature, Hyponatremia, Weight loss, Increased cir... ORPHA:171876
Congenital Insensitivity To Pain With Severe Intellectual Disability
Rocker bottom foot, Recurrent fractures, Limb undergrowth, Tibial bowing, Keratitis, Small for ge... ORPHA:453510
Carnitine Deficiency, Systemic Primary
Decreased plasma carnitine, Elevated hepatic transaminase, Hepatic steatosis, Decreased carnitine... OMIM:212140
Rothmund-Thomson Syndrome Type 2
Short phalanx of finger, Synostosis involving bones of the upper limbs, Neutropenia, Pathologic f... ORPHA:221016
Gaucher Disease Type 3
Osteolysis, Increased circulating antibody level, Growth delay, Bone pain, Increased bone mineral... ORPHA:77261
Diffuse Cutaneous Mastocytosis
Pruritus, Erythroderma, Hepatomegaly, Leukemia, Cutaneous mastocytosis ORPHA:79456
Mixed Connective Tissue Disease
Skin rash, Osteolysis, Hemolytic anemia, Pericarditis, Joint swelling, Keratoconjunctivitis sicca... ORPHA:809
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Abnormal proportion of CD4-positive T cells, Abnormal serum interleukin level, Dec... ORPHA:3261
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgM level, Increased circulating IgE level, Decreased proportion of CD8-pos... OMIM:617241
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Conjugated hyperbilirubinemia, Chole... ORPHA:567983
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Hepatic steatosis, Failure to thrive ORPHA:26792
Fanconi-Like Syndrome
Pancytopenia, Osteomyelitis OMIM:227850
Cinca Syndrome
Skin rash, Leukocytosis, Growth delay, Uveitis, Patellar overgrowth, Elevated circulating C-react... OMIM:607115
Ramon Syndrome
Osteolysis, Failure to thrive ORPHA:3019
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Hepatic steatosis, Lipodystrophy, Hyperuricemia, Hypertriglyceridemia, Loss of gluteal... OMIM:604367
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Broad thumb, Lymphopenia, Growth delay, Neutropenia, Hypoplasi... OMIM:612541
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Lymphopenia, Neutropenia, Anemia, Increased serum i... OMIM:604250
Congenital Bile Acid Synthesis Defect Type 3
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Neonatal cholestatic liver disease, B... ORPHA:79302
Isolated Agammaglobulinemia
Skin rash, Abnormality of neutrophils, Abnormal lymphocyte morphology, Pneumonia, Thrombocytopeni... ORPHA:229717
African Iron Overload
Peritonitis, Micronodular cirrhosis, Increased circulating ferritin concentration, Increased circ... ORPHA:139507
Congenital Erythropoietic Porphyria
Osteoporosis, Osteolysis, Hemolytic anemia, Scleritis, Increased erythrocyte protoporphyrin conce... ORPHA:79277
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteoporosis, Arthropathy, Osteolysis, Sclerotic cranial sutures, Osteolysis involving bones of t... ORPHA:371428
Rothmund-Thomson Syndrome Type 1
Short phalanx of finger, Neutropenia, Small for gestational age, Anemia, Metaphyseal sclerosis, A... ORPHA:221008
Cidec-Related Familial Partial Lipodystrophy
Hepatic steatosis, Lipodystrophy, Hepatomegaly, Hypertriglyceridemia, Loss of gluteal subcutaneou... ORPHA:435651
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Recurrent pneumonia, Intermittent thrombocytopenia, Bronchiectasis, Chron... OMIM:150550
Lipe-Related Familial Partial Lipodystrophy
Increased intraabdominal fat, Hepatic steatosis, Increased adipose tissue around the neck, Lipody... ORPHA:435660
Proteasome-Associated Autoinflammatory Syndrome 3
Skin rash, Elevated hepatic transaminase, Increased circulating antibody level, Lymphopenia, Pann... OMIM:617591
Immunodeficiency 60
Decreased proportion of memory B cells, Bronchiectasis, Decreased circulating IgE, Decreased baso... OMIM:618394
Reticular Dysgenesis
Skin rash, Abnormality of neutrophils, Decreased circulating antibody level, Chronic otitis media... ORPHA:33355
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoporosis, Genu valgum, Upper limb undergrowth, Short metatarsal, Disproportionate short-limb ... ORPHA:93351
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hepatomegaly, Vomiting, Diarrhea OMIM:605911
Purine Nucleoside Phosphorylase Deficiency
Pure red cell aplasia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymph node hypop... OMIM:613179
Adult-Onset Still Disease
Skin rash, Pericarditis, Joint swelling, Leukocytosis, Myocarditis, Abnormal circulating lipid co... ORPHA:829
Akt2-Related Familial Partial Lipodystrophy
Increased intraabdominal fat, Hepatic steatosis, Lipodystrophy, Hepatomegaly, Hypertriglyceridemi... ORPHA:79085
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Keratoderma Hereditarium Mutilans
Osteolysis ORPHA:494
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Hypertriglyceridemia ORPHA:436182
Autosomal Recessive Hypophosphatemic Rickets
Craniosynostosis, Abnormal trabecular bone morphology, Polyarticular arthritis, Tooth abscess, Hy... ORPHA:289176
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Osteomyelitis leading to amputation due to slow healing fractures, Cirrhosis, Elevated hepatic tr... OMIM:256810
Hodgkin Lymphoma
Pruritus, Weight loss, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:98293
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
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
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal serum interleukin level, Decreased proportion of memory B cells, Panhypogammaglobulinemi... ORPHA:79124
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypercholesterolemia, Hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic steatosis... ORPHA:209902
Metatropic Dysplasia
Camptodactyly of finger, Abnormal enchondral ossification, Halberd-shaped pelvis, Abnormal cortic... ORPHA:2635
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Metaphyseal chondrodysplasia, Agammaglobulinemia OMIM:200900
Selective Igm Deficiency
Cutaneous abscess, Bronchiectasis, Decreased specific antibody response to vaccination, Chronic s... ORPHA:331235
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Increased circulating IgM level, Decreased circulating IgA level, Impaired Ig class... OMIM:608106
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hyperthreoninemia, Abnormal cir... ORPHA:247598
Systemic Sclerosis
Pericarditis, Joint swelling, Flexion contracture, Finger swelling, Abnormal phalangeal joint mor... ORPHA:90291
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Elevate... OMIM:251880
Immunodeficiency 54
Postnatal growth retardation, Hepatomegaly, Reduced natural killer cell count, Short stature, Spl... OMIM:609981
Lichtenstein Syndrome
Osteoporosis, Neutropenia, Increased susceptibility to fractures, Decreased circulating IgA level... OMIM:246550
Cranio-Osteoarthropathy
Abnormality of the knee, Abnormality of tibia morphology, Joint swelling, Abnormal cortical bone ... ORPHA:1525
Galactosemia Iii
Hypergalactosemia, Hepatomegaly, Jaundice, Failure to thrive, Splenomegaly, Vomiting OMIM:230350
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Intrauterine growth retardation, Short stature, Splenomegaly OMIM:618541
Desbuquois Dysplasia 1
Short metatarsal, Joint laxity, Phalangeal dislocation, Broad first metatarsal, Sandal gap, Flat ... OMIM:251450
Citrullinemia, Type Ii, Adult-Onset
Elevated hepatic transaminase, Hepatic steatosis, Hepatocellular carcinoma, Hypertriglyceridemia,... OMIM:603471
Dent Disease 1
Hypophosphatemia, Bulging epiphyses, Fibular bowing, Enlargement of the ankles, Metaphyseal irreg... OMIM:300009
Griscelli Syndrome
Abnormality of neutrophils, Decreased circulating antibody level, Thrombocytopenia, Jaundice, Hep... ORPHA:381
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hepatic failure OMIM:261650
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Caffey Disease
Increased circulating antibody level, Cortical thickening of long bone diaphyses, Cortical irregu... ORPHA:1310
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Diarrhea, Cardiomegaly, Elevated ... OMIM:255120
Macrocephaly/Autism Syndrome
Decreased circulating antibody level, Lymphopenia, Hepatomegaly, Splenomegaly, Obesity OMIM:605309
Osteopetrosis, Autosomal Recessive 7
Recurrent pneumonia, Abnormal trabecular bone morphology, Femur fracture, Growth delay, Osteopetr... OMIM:612301
Immunodeficiency 17
Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia, Recurrent otitis media... OMIM:615607
Mandibuloacral Dysplasia With Type B Lipodystrophy
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... ORPHA:90154
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Deafness-Lymphedema-Leukemia Syndrome
Myeloproliferative disorder, Leukocytosis, Chronic otitis media, Weight loss, Thrombocytopenia, H... ORPHA:3226
Fusariosis
Lung abscess, Peritonitis, Bronchiectasis, Lymphopenia, Panniculitis, Granuloma, Neutropenia, Pne... ORPHA:228119
Bone Marrow Failure Syndrome 4
Decreased circulating antibody level, Rhizomelia, Thrombocytopenia, Anemia, Leukopenia, Short sta... OMIM:618116
Pfapa Syndrome
Weight loss, Hepatomegaly, Encephalitis, Splenomegaly, Lymphadenopathy, Arthritis ORPHA:42642
Mucous Membrane Pemphigoid
Autoimmunity ORPHA:46486
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Azoospermia, Growth delay, Hepatomegaly, Hypogonadism, Anemia, Splenomegaly, Decreas... OMIM:615234
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Thyroiditis, Increased circulating IgA level, Growth delay, Uveitis,... OMIM:617388
Combined Oxidative Phosphorylation Deficiency 52
Hyperglycinemia, Hepatic steatosis, Hyperamylasemia, Elevated circulating alanine aminotransferas... OMIM:619386
Immunodeficiency 19
Lymphopenia, Recurrent otitis media, Failure to thrive OMIM:615617
Acquired Partial Lipodystrophy
Hepatic steatosis, Lipoatrophy ORPHA:79087
Rft1-Cdg
Hepatomegaly, Failure to thrive, Short stature ORPHA:244310
Bullous Diffuse Cutaneous Mastocytosis
Pruritus, Erythroderma, Cutaneous mastocytosis ORPHA:280785
Grant Syndrome
Wormian bones, Abnormality of the glenoid fossa, Joint hyperflexibility, Bowing of the long bones... ORPHA:2097
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, Elevated hepatic transaminase OMIM:306000
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... ORPHA:90153
Ataxia-Pancytopenia Syndrome
Abnormal platelet function, Abnormality of neutrophils, Abnormal macrophage morphology, Acute mye... ORPHA:2585
Roifman Syndrome
Recurrent pneumonia, Recurrent otitis media, Postnatal growth retardation, Lymphadenopathy, Hepat... OMIM:616651
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Disproportionate short stature, Hepatic cysts, Lymphopenia, Erythroderma, Decreased circulating a... OMIM:617425
Kaposiform Lymphangiomatosis
Abnormal humerus morphology, Osteolysis, Abnormality of femur morphology, Abnormality of the isch... ORPHA:464329
Winchester Syndrome
Osteolysis involving bones of the upper limbs, Generalized osteoporosis, Osteolysis involving bon... OMIM:277950
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Decreased body mass index, Elevated hepatic transaminase, ... ORPHA:247585
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Decreased skull ossification, Anemia, Short stature, Abnormal hemoglobin ORPHA:3319
Netherton Syndrome
Allergic rhinitis, Increased circulating IgE level, Erythroderma, Hypereosinophilia, Failure to t... OMIM:256500
Immunodeficiency 15A
Cutaneous abscess, Decreased proportion of CD8-positive T cells, Decreased proportion of memory B... OMIM:618204
Primary Myelofibrosis
Thrombocytosis, Leukocytosis, Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Cache... ORPHA:824
Fibrodysplasia Ossificans Progressiva
Short hallux, Synostosis of joints, Ectopic ossification in muscle tissue, Ectopic ossification i... ORPHA:337
Eosinophilopenia
Autoimmunity OMIM:131430
X-Linked Lymphoproliferative Disease
Lymphocytosis, Pancytopenia, Histiocytosis, Decreased liver function, Increased B cell count, Myo... ORPHA:2442
Ddost-Cdg
Elevated hepatic transaminase, Hepatic steatosis, Constipation, Lipodystrophy, Gastroesophageal r... ORPHA:300536
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hepatic steatosis, Reduced intraabdominal adipose tissue, Hepatomegaly, Hypertriglycer... ORPHA:363400
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Agammaglobulinemia, Neutropenia, Failure to thrive OMIM:613501
Familial Cold Autoinflammatory Syndrome 1
Skin rash, Leukocytosis, Uveitis, Conjunctivitis, Elevated circulating C-reactive protein concent... OMIM:120100
Hemochromatosis Type 4
Increased circulating ferritin concentration, Hepatic steatosis, Cirrhosis, Congenital hepatic fi... ORPHA:139491
Spondyloepiphyseal Dysplasia Tarda
Limited wrist movement, Localized osteoporosis, Joint swelling, Flattened femoral head, Abnormal ... ORPHA:93284
Hypereosinophilic Syndrome, Idiopathic
Pruritus, Hepatomegaly, Splenomegaly, Myeloproliferative disorder, Eosinophilia OMIM:607685
Autoimmune Hemolytic Anemia, Cold Type
Autoimmunity, Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Kimura Disease
Eosinophilia, Increased circulating IgE level, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Galactose Epimerase Deficiency
Growth delay, Weight loss, Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased plasma total carnitine, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly,... ORPHA:42
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemia, Metaphyseal irregularity, Flattening of the talar dome, Hypophosphatemic ricket... OMIM:307800
Peroxisomal Acyl-Coa Oxidase Deficiency
Hepatomegaly, Dysphagia, Elevated hepatic transaminase, Diffuse hepatic steatosis OMIM:264470
Ck Syndrome
Slender build, Joint hypermobility, Abnormal cortical bone morphology, Abnormal digit morphology OMIM:300831
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Wormian bones, Upper limb undergrowth, Abnormal cortical bone morphology, Pathologic fracture, To... ORPHA:166277
Autoinflammation With Infantile Enterocolitis
Skin rash, Pancytopenia, Reduced natural killer cell count, Thrombocytopenia, Anemia, Splenomegal... OMIM:616050
Niemann-Pick Disease, Type B
Bone-marrow foam cells, Sea-blue histiocytosis, Hepatomegaly, Short stature, Splenomegaly OMIM:607616
Boutonneuse Fever
Skin rash, Increased circulating IgM level, Elevated hepatic transaminase, Maculopapular exanthem... ORPHA:83313
Schimke Immunoosseous Dysplasia
Lymphopenia, Neutropenia, Shallow acetabular fossae, Thrombocytopenia, Abnormal T cell morphology... OMIM:242900
Trimethylaminuria
Recurrent pneumonia, Neutropenia, Anemia, Splenomegaly OMIM:602079
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Immunodeficiency 8
Lymphopenia OMIM:615401
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Leukocytosis, Increased hemoglobin, Thrombocytopenia, Incre... OMIM:263300
Congenital Bile Acid Synthesis Defect Type 1
Pruritus, Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Biliary t... ORPHA:79301
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent peripheral lymph nodes in presence of infection, T lymphocytopenia, Cutaneous anergy, Abse... OMIM:600802
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Skin rash, Increased circulating IgM level, Leukocytosis, Panniculitis, Failure to thrive in infa... OMIM:617099
Endove Syndrome, Limb-Brain Type
Toe syndactyly, Joint laxity, Failure to thrive, Talar aplasia, Aplasia of the 3rd finger, Osteom... OMIM:619218
Congenital Atransferrinemia
Anemia, Arthritis ORPHA:1195
Pseudoachondroplasia
Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Joint laxity, Childhoo... OMIM:177170
Fibular Hemimelia
Craniosynostosis, Hip subluxation, Joint laxity, Bowing of the legs, Joint stiffness, Abnormality... ORPHA:93323
Immunodeficiency 58
Esophagitis, Seborrheic dermatitis, Cutaneous abscess, Allergic rhinitis, Bronchiectasis, Decreas... OMIM:618131
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome
Osteomyelitis, Periostitis ORPHA:2218
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated hepatic transaminase, Failure to thrive OMIM:614582
Buschke-Ollendorff Syndrome
Craniosynostosis, Abnormality of epiphysis morphology, Flexion contracture, Recurrent fractures, ... ORPHA:1306
Diabetes Mellitus, Ketosis-Prone
Autoimmunity OMIM:612227
Thrombocythemia 1
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet ... OMIM:187950
Hypophosphatasia
Craniosynostosis, Bowing of the long bones, Recurrent fractures, Failure to thrive in infancy, Hy... ORPHA:436
Immunodeficiency 31C
Autoimmune hemolytic anemia, Lymphopenia, Growth delay, Delayed puberty, Chronic mucocutaneous ca... OMIM:614162
Thrombocythemia 2
Thrombocytosis OMIM:601977
Paget Disease Of Bone 3
Osteolysis, Fractures of the long bones, Bone pain, Patchy osteosclerosis OMIM:167250
Systemic-Onset Juvenile Idiopathic Arthritis
Skin rash, Pericarditis, Autoimmunity, Hepatomegaly, Juvenile rheumatoid arthritis, Anterior uvei... ORPHA:85414
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility, Rhizomelia, Splenomegaly, Short stature, Recurrent pneumonia OMIM:602271
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Osteoarthritis, Anemia OMIM:606069
X-Linked Hypophosphatemia
Craniosynostosis, Flared iliac wing, Generalized osteosclerosis, Bone pain, Bowing of the legs, V... ORPHA:89936
Lipodystrophy, Familial Partial, Type 1
Lipodystrophy, Increased adipose tissue around the neck, Acute pancreatitis, Hepatomegaly, Hypert... OMIM:608600
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Lymphadenitis, Salmonella osteomyelitis, Abnormal serum interleukin level, Pneumonia ORPHA:319552
Prolidase Deficiency
Recurrent pneumonia, Elevated circulating aspartate aminotransferase concentration, Systemic lupu... OMIM:170100
Papillon-Lefèvre Syndrome
Severe periodontitis, Pustule, Osteolysis, Periodontitis, Chronic furunculosis, Recurrent cutaneo... ORPHA:678
Immunodeficiency 40
Lymphopenia OMIM:616433
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Hammertoe, Foot osteomyelitis OMIM:600882
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Melorheostosis
Ectopic ossification in muscle tissue, Bone pain, Increased bone mineral density, Hyperostosis, J... ORPHA:2485
3-Hydroxy-3-Methylglutaric Aciduria
Thrombocytosis, Leukocytosis, Hyperuricemia, Weight loss, Acute pancreatitis, Anemia, Leukopenia,... ORPHA:20
Angel-Shaped Phalangoepiphyseal Dysplasia
Hip osteoarthritis, Delayed ossification of carpal bones, Premature osteoarthritis, Short stature... OMIM:105835
Progressive Pseudorheumatoid Dysplasia
Osteoporosis, Camptodactyly of finger, Metaphyseal widening, Enlarged interphalangeal joints, Joi... OMIM:208230
Autoimmune Hepatitis
Anti-liver cytosolic antigen type 1 antibody positivity, Thyroiditis, Sclerosing cholangitis, Jau... ORPHA:2137
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Eng-Strom Syndrome
Camptodactyly of finger, Short stature, Intrauterine growth retardation, Brachydactyly, Arthritis ORPHA:1937
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, T lymphocytopenia, Skin rash, Partial absence of specific an... OMIM:618108
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Increased intraabdominal fat, Hepatic steatosis, Adipose tissue loss, Incre... OMIM:151660
Leukocyte Adhesion Deficiency
Peritonitis, Bronchiectasis, Pneumonia, Lymphocytic interstitial pneumonia, Sinusitis, Abnormalit... ORPHA:2968
Cernunnos-Xlf Deficiency
T lymphocytopenia, Decreased circulating antibody level, Lymphopenia, Growth delay, Thrombocytope... ORPHA:169079
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Decreased plasma carnitine, Hepatocellular necrosis, Hepatic steatosis, Periportal fibrosis, Gast... OMIM:201475
Wilson Disease
Acute hepatitis, Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failu... ORPHA:905
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Pustule, Acne, Increased inflammatory response, Increased circulating antibody level, Myositis, C... ORPHA:69126
Chronic Recurrent Multifocal Osteomyelitis
Palmoplantar pustulosis, Bone pain, Osteomyelitis OMIM:259680
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Splenomegaly, Anemia, Anemia of inadequate ... OMIM:613673
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatomegaly, Hepatic steatosis, Abnormal circulating creatine kinase concentration, Elevated hep... ORPHA:369840
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig... OMIM:605258
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormality of the knee, Genu valgum, Abnormality of the ankles, Abnormality of epiphysis morphol... ORPHA:166002
Alpha-Mannosidosis
Hip dysplasia, Synostosis of joints, Craniofacial hyperostosis, Hypoplastic inferior ilia, Bowing... ORPHA:61
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, E... OMIM:614493
Paget Disease Of Bone 2, Early-Onset
Osteolysis, Bowing of the long bones, Bone pain, Fractures of the long bones, Increased susceptib... OMIM:602080
Chylomicron Retention Disease
Elevated hepatic transaminase, Hepatic steatosis, Increased hepatocellular lipid droplets, Steato... ORPHA:71
Inflammatory Skin And Bowel Disease, Neonatal, 1
Pustule, Increased circulating IgE level, Erythroderma, Failure to thrive, Blepharitis OMIM:614328
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Macrovesicular hepatic steatosis, Hepatomegaly, Vomiting, Cardiome... OMIM:600649
Incontinentia Pigmenti
Absent hand, Camptodactyly of finger, Osteolysis, Skin rash, Finger syndactyly, Uveitis, Abnormal... ORPHA:464
Multicentric Reticulohistiocytosis
Histiocytosis, Cachexia, Arthritis ORPHA:139436
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Autoimmune thrombocytopenia, Interstitial pneumonitis, Autoimm... OMIM:615952
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Stillbirth, Extramedullary hematopoiesis, Hyperbilirubinemia, Growth delay, Osteope... OMIM:259720
Congenital Toxoplasmosis
Elevated hepatic transaminase, Failure to thrive in infancy, Thrombocytopenia, Jaundice, Hepatome... ORPHA:858
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia, Intrauterine growth retardation, Abnormality of the liver, Hepatomegaly ORPHA:1980
Hepatoerythropoietic Porphyria
Osteoporosis, Osteolysis, Hemolytic anemia, Scleritis, Seborrhoeic blepharitis, Recurrent bacteri... ORPHA:95159
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
Common Variable Immunodeficiency
Hemolytic anemia, Elevated hepatic transaminase, Autoimmune thrombocytopenia, Bronchiectasis, Dec... ORPHA:1572
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Short stature, Splenomegaly ORPHA:417
Immunodeficiency, Common Variable, 7
Reduced isohemagglutinin level, Decreased circulating total IgG, Decreased circulating IgA level,... OMIM:614699
Complement Component C1R/C1S Deficiency
Autoimmunity OMIM:216950
Vexas Syndrome
Chondritis of pinna, Inflammatory abnormality of the skin, Arteritis, Neutrophilic infiltration o... OMIM:301054
Sandhoff Disease
Hepatomegaly, Failure to thrive, Splenomegaly ORPHA:796
Farber Lipogranulomatosis
Lipogranulomatosis, Hepatomegaly, Failure to thrive, Splenomegaly, Arthritis OMIM:228000
Mevalonic Aciduria
Skin rash, Fluctuating hepatomegaly, Morbilliform rash, Elevated hepatic transaminase, Leukocytos... OMIM:610377
Hemochromatosis, Type 2A
Infertility, Cirrhosis, Azoospermia, Amenorrhea, Hepatomegaly, Splenomegaly, Hypogonadotropic hyp... OMIM:602390
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Osteolysis, Osteolysis involving bones of the upper limbs, Hyperbilirubinemia, Thrombocytopenia, ... ORPHA:464321
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Chronic oral candidiasis, Clinodactyly of the 4th finger, Decreased specific antibody response to... ORPHA:221139
Progressive Osseous Heteroplasia
Ectopic ossification in muscle tissue, Bone pain, Osteoarthritis, Brachydactyly, Limitation of jo... ORPHA:2762
Adrenomyodystrophy
Hepatic steatosis, Constipation, Chronic constipation OMIM:300270
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis, Pn... OMIM:247800
Infantile Liver Failure Syndrome 1
Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failure, Hepatomegaly, Failure to... OMIM:615438
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Osteomyelitis, Foot osteomyelitis OMIM:162400
Hyper-Igd Syndrome
Skin rash, Chronic oral candidiasis, Lymphadenitis, Leukocytosis, Increased circulating IgA level... OMIM:260920
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Cholestasis-Lymphedema Syndrome
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Conjugated hyperbil... OMIM:214900
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Osteoporosis, Abnormality of iron homeostasis, Join... ORPHA:465508
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Growth delay, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anisocytosis, Anemi... OMIM:615631
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Chronic oral candidiasis, Autoimmunity, Decreased proportion of CD3-positive T cells, ... ORPHA:275
Microcephalic Primordial Dwarfism, Toriello Type
Short proximal phalanx of thumb, Short middle phalanx of finger, Short proximal phalanx of hallux... OMIM:251190
Immunodeficiency By Defective Expression Of Mhc Class Ii
T lymphocytopenia, Abnormal CD4:CD8 ratio, Chronic hepatitis due to cryptosporidium infection, Sk... ORPHA:572
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypercholesterolemia, Cirrhosis, Elevated hepatic transaminase, Hepatocellular adenoma, Hepatocel... ORPHA:370
Beta-Ketothiolase Deficiency
Thrombocytosis, Leukocytosis, Hyperuricemia, Weight loss, Hyperammonemia ORPHA:134
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Splenomegaly, Anemia, Abnormal platelet function, Abnormal hemoglobin ORPHA:231393
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Joint laxity, Mild short stature, Increased susceptibility to fractures, Congenital bilateral hip... OMIM:130060
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Alpha-Mannosidosis, Infantile Form
Genu valgum, Craniosynostosis, Osteolysis, Joint laxity, Hypoplastic inferior ilia, Cortical thic... ORPHA:309282
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Hepatomegaly, Jaundice, Failure to thrive, Splenomegaly, Short stature ORPHA:172
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal irregularity, Bowing of the legs, Femoral bowing, Disproportionate short-limb short s... ORPHA:174
Glycogen Storage Disease Ixb
Hepatomegaly, Increased hepatic glycogen content, Short stature OMIM:261750
Desmoid Tumor
Osteolysis, Limitation of joint mobility ORPHA:873
Menkes Disease
Osteoporosis, Wormian bones, Tarsal synostosis, Chondrocalcinosis, Joint hyperflexibility, Bowing... ORPHA:565
Ulnar Hemimelia
Radial club hand, Short forearm, Elbow pain, Limited shoulder movement, Duplication of phalanx of... ORPHA:93320
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Skin rash, Autoimmune hemolytic anemia, Re... OMIM:619374
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Intrauterine growth retardation, Hypogonadism, Splenomegaly OMIM:608540
Hajdu-Cheney Syndrome
Osteoporosis, Wormian bones, Short toe, Osteolysis, Partial absence of toe, Joint hyperflexibilit... ORPHA:955
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Hepatic steatosis, Lipodystrophy, Flexion contracture, Hepatomegal... OMIM:615381
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Delayed closure of the anterior fontanelle, Proportionate short stature, Short foot... OMIM:244460
Hypophosphatasia, Infantile
Craniosynostosis, Elevated plasma pyrophosphate, Stillbirth, Decreased calvarial ossification, Sh... OMIM:241500
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Cirrhosis, Hepatic steatosis, Adipose tissue loss, Lipodystrophy, Hepatomeg... ORPHA:528
Osteopetrosis With Renal Tubular Acidosis
Genu valgum, Abnormality of epiphysis morphology, Recurrent fractures, Osteopetrosis, Bone pain, ... ORPHA:2785
Sea-Blue Histiocyte Disease
Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Listeriosis
Peritonitis, Pericarditis, Pneumonia, Myocarditis, Hepatic granulomatosis, Osteomyelitis, Endocar... ORPHA:533
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Immunodeficiency 27B
Salmonella osteomyelitis, Osteomyelitis OMIM:615978
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Hepatomegaly, Anemia, Splenomega... OMIM:133180
Microsporidiosis
Peritonitis, Thyroiditis, Decreased proportion of CD4-positive helper T cells, Pneumonia, Weight ... ORPHA:2552
Methylcobalamin Deficiency Type Cble
Osteoporosis, Neutropenia, Postnatal growth retardation, Intrauterine growth retardation, Pancyto... ORPHA:2169
Retinitis Pigmentosa 59
Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Intrauterine growth retardation OMIM:613861
Peroxisome Biogenesis Disorder 12A (Zellweger)
Delayed closure of the anterior fontanelle, Wide anterior fontanel, Growth delay, Hyperbilirubine... OMIM:614886
Wild Type Abeta2M Amyloidosis
Abnormal shoulder morphology, Bone cyst, Arthropathy, Arthritis ORPHA:85446
Burkitt Lymphoma
Decreased proportion of CD4-positive helper T cells, Abnormality of the lymph nodes, Abnormality ... ORPHA:543
Syndromic Diarrhea
Thrombocytosis, Abnormality of iron homeostasis, Lymphopenia, Panhypogammaglobulinemia, Increased... ORPHA:84064
Rhizomelic Chondrodysplasia Punctata, Type 3
Epiphyseal stippling, Short femur, Rhizomelia, Short humerus, Failure to thrive, Disproportionate... OMIM:600121
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Limitation of joint mobility, Eosinophilia, Arthritis ORPHA:2582
Cyclic Neutropenia
Peritonitis, Recurrent tonsillitis, Decreased eosinophil count, Lymphopenia, Periodontitis, Tooth... ORPHA:2686
Familial Partial Lipodystrophy, Dunnigan Type
Cellulitis, Hepatic steatosis, Lipoatrophy, Lipodystrophy, Hepatomegaly, Hypertriglyceridemia, Pa... ORPHA:2348
Multiple Epiphyseal Dysplasia, Beighton Type