Gene Summary

Name:
lectin, galactose binding, soluble 3
Synonyms:
Mac-2,  galectin-3,  L-34,  gal3

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.

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 100% (2 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 100% (2 of 2)
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 100% (2 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 50% (1 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 100% (2 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 100% (2 of 2)

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 2)
Brain N/A homozygote 100% (2 of 2)
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote 0.0% (0 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote 100% (2 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote 0.0% (0 of 2)
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote 0.0% (0 of 2)
Forebrain N/A heterozygote 0.0% (0 of 2)
Forebrain N/A homozygote 0.0% (0 of 2)
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote 0.0% (0 of 2)
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote 0.0% (0 of 2)
Head N/A heterozygote 0.0% (0 of 2)
Head N/A homozygote 100% (2 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Heart N/A homozygote 0.0% (0 of 2)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A homozygote 50% (1 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote 0.0% (0 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote 50% (1 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote 0.0% (0 of 2)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote 0.0% (0 of 2)
Tail N/A heterozygote 100% (2 of 2)
Tail N/A homozygote 100% (2 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 0.0%
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
oral cavity 0.0%
skin 0.0%
tail 0.0%
tail somite group 0.0%

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 Wholemount

19 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Echo

M-Mode Images

28 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

Human diseases caused by Lgals3 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Lgals3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Carbimazole Sensitivity
Drug-induced agranulocytosis OMIM:212060
Immunodeficiency 24
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:615897
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Infectious encephalitis,... OMIM:616098
Osteomesopyknosis
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Abnormal cortical bone morpholog... ORPHA:2777
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Recurrent infections, Herpes simplex encephalitis, Increased circulating IgE level, Recurrent oti... OMIM:618982
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transami... OMIM:614480
Osteomesopyknosis
Low back pain, Increased bone mineral density OMIM:166450
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Reduced social reciprocity OMIM:618830
Mhc Class Ii Deficiency 1
Cutaneous anergy, Recurrent upper respiratory tract infections, Recurrent viral infections, Chron... OMIM:209920
Buschke-Ollendorff Syndrome
Joint stiffness, Osteopoikilosis, Scoliosis, Flexion contracture OMIM:166700
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Immunodeficiency 95
Decreased circulating IgG3 level, Recurrent viral pneumonia, Lymphopenia, Recurrent viral upper r... OMIM:619773
Osteosclerotic Metaphyseal Dysplasia
Dense metaphyseal bands, Sclerotic vertebral endplates, Clavicular sclerosis, Metaphyseal dysplas... OMIM:615198
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology, Complete duplication of the distal phalanges ... ORPHA:1879
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Persistent CMV viremia, Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic an... OMIM:619220
Immunodeficiency 51
Pneumonia, Folliculitis, Cutaneous abscess, Eczematoid dermatitis, Chronic mucocutaneous candidia... OMIM:613953
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Immunodeficiency 18
Reduced natural killer cell count, Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Abno... OMIM:615615
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypermethioninemia OMIM:606664
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification, Abnormality of the vertebral column OMIM:602475
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Neutropenia, Recurrent ph... OMIM:308240
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circulating gamma-aminobutyric acid concent... OMIM:619658
Histiocytosis, Familial Lipochrome
Recurrent infections, Histiocytosis, Increased circulating antibody level OMIM:235900
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Recurrent sinusitis,... OMIM:613494
Hepatocellular Carcinoma
Micronodular cirrhosis, Subacute progressive viral hepatitis, Hepatocellular carcinoma OMIM:114550
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can... OMIM:242870
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Recurrent bacterial... OMIM:613500
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count, Recurrent ... OMIM:613495
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Combined Immunodeficiency, X-Linked
Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Pneumocystis carinii pneumonia... OMIM:312863
Osteochondrosis Of The Metatarsal Bone
Abnormality of the fifth metatarsal bone, Abnormal metatarsal epiphysis morphology, Abnormality o... ORPHA:564003
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Protein-losing enteropathy, Recurrent otiti... OMIM:613502
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Combined Oxidative Phosphorylation Deficiency 16
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:615395
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal u... ORPHA:3416
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Severe Combined Immunodeficiency, X-Linked
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Reduced natural killer cell acti... OMIM:300400
Immunodeficiency 62
Decreased circulating IgG level, Decreased proportion of memory B cells, Recurrent upper respirat... OMIM:618459
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
Immunodeficiency 25
Recurrent pneumonia, Recurrent candida infections, Increased circulating IgE level, Protracted di... OMIM:610163
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Abnor... ORPHA:2790
Eiken Syndrome
Delayed epiphyseal ossification, Abnormal trabecular bone morphology, Abnormal fingertip morpholo... ORPHA:79106
Hemochromatosis, Neonatal
Hepatic fibrosis, Hepatic failure, Increased circulating iron concentration, Hepatocellular necro... OMIM:231100
Immunodeficiency 8 With Lymphoproliferation
Recurrent upper respiratory tract infections, Post-vaccination varicella zoster virus infection, ... OMIM:615401
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... OMIM:616278
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral... ORPHA:1802
Sclerosteosis
Craniofacial hyperostosis, Finger syndactyly, Curved distal phalanges of the hand, Abnormal corti... ORPHA:3152
Hemochromatosis, Type 2B
Hepatic fibrosis, Increased circulating iron concentration, Elevated circulating hepatic transami... OMIM:613313
Immunodeficiency 102
Decreased proportion of CD4-positive helper T cells, Recurrent lower respiratory tract infections... OMIM:301082
Pediatric Hepatocellular Carcinoma
Hepatic fibrosis, Hepatic necrosis, Portal vein thrombosis, Hepatomegaly, Elevated circulating al... ORPHA:33402
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T... OMIM:615513
Agammaglobulinemia, X-Linked
Enteroviral dermatomyositis syndrome, Recurrent otitis media, Prostatitis, Neutropenia, Bronchiol... OMIM:300755
Cholestasis, Progressive Familial Intrahepatic, 11
Abnormal circulating bilirubin concentration, Elevated circulating aspartate aminotransferase con... OMIM:619874
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mineral... OMIM:166740
Splenoportal Vascular Anomalies
Hepatic fibrosis, Ascites, Splenomegaly, Hyperammonemia, Cirrhosis, Anomalous splenoportal venous... OMIM:271500
Complement Component C1S Deficiency
Hashimoto thyroiditis, Hepatitis OMIM:613783
Gnathodiaphyseal Dysplasia
Osteopenia, Mandibular osteomyelitis, Bowing of the long bones, Thickened cortex of long bones, S... ORPHA:53697
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Portal inflammation, Ballooning hepat... OMIM:603471
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Abnormal T cell count, Diarrhea, Recurrent enteroviral infections, Panhypogammaglobuli... OMIM:307200
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Osteopetrosis, Autosomal Recessive 6
Cortical sclerosis of the iliac wing, Erlenmeyer flask deformity of the femurs, Osteopetrosis, De... OMIM:611497
Porphyria Cutanea Tarda, Type I
Hepatic fibrosis, Eczematoid dermatitis OMIM:176090
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... OMIM:605258
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Recurren... OMIM:619707
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Abnormal T cell count, Inflammation of the large intestine, Muco... OMIM:615767
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Diarrhea, Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemi... OMIM:601457
Immunodeficiency 50
Eczematoid dermatitis, Recurrent urinary tract infections, Lymphopenia, Neutropenia, Recurrent re... OMIM:300988
Immunodeficiency 112
Decreased circulating IgG level, Reduced natural killer cell count, Recurrent viral infections, C... OMIM:620449
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Diarrhea, Recurrent otitis media, Decreased... OMIM:612692
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Chronic decreased circulating total IgG, Recurrent otitis media, Decreased... OMIM:613493
Immunodeficiency 31A
BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim... OMIM:614892
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Increased circulating iron concentration, Congenital hepatic fibrosi... ORPHA:446
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent viral infections, Increased circulating IgE level, Lymphopenia, Hepatosplenomegaly, Dec... ORPHA:169154
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Diarrhea, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal immunoglobul... ORPHA:276
Immunodeficiency 48
Pneumonia, Pneumocystis carinii pneumonia, Eczematoid dermatitis, Panhypogammaglobulinemia, Recur... OMIM:269840
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Disseminated mollu... OMIM:617638
Caspase 8 Deficiency
Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Decreased circulating IgA leve... OMIM:607271
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... OMIM:618534
Lymphoproliferative Syndrome 2
Recurrent pneumonia, Sepsis, Aplastic anemia, Hemophagocytosis, Decreased lymphocyte proliferatio... OMIM:615122
Congenital Disorder Of Glycosylation, Type Iip
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ... OMIM:616829
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating IgG level, Atopic dermatitis, Recurrent upper respiratory tract infections,... OMIM:618944
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Allergic rhinitis, Recurrent viral infections, Increased circulating IgE level, Recurrent otitis ... OMIM:243700
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Mildly elevated creatine kinase, Elevated circulating hepatic transaminase concentration, Hepatic... OMIM:618400
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per... ORPHA:139507
Ribbing Disease
Diaphyseal sclerosis OMIM:601477
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Diarrhea, Protracted diarrhea, Lymphopenia, Hepatosplenomegaly, Increased circulating antibody le... ORPHA:169160
Immunodeficiency 46
Sepsis, Conjunctivitis, Recurrent sinopulmonary infections, Neutropenia, Meningitis, Anemia, Inte... OMIM:616740
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Inflammation of the large intestine, Increased circulating IgE level, Recurrent otitis media, Abn... ORPHA:98813
Immunodeficiency, Common Variable, 1
Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Diarrhea,... OMIM:607594
Immunodeficiency 103, Susceptibility To Fungal Infections
Chronic tinea infection, Increased circulating IgE level, Hypereosinophilia, Abnormal B cell coun... OMIM:212050
Immunodeficiency, Common Variable, 7
Recurrent infections, Decreased specific pneumococcal antibody level, Decreased circulating total... OMIM:614699
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Delayed... ORPHA:52901
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Persistent CMV viremia, Diarrhea, Recurrent urinary tract infections, Recurrent otitis media, Dec... OMIM:618495
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi... OMIM:615206
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Rickets of the lower limbs, Genu val... OMIM:600785
Hepatitis Delta
Hepatic failure, Hepatitis, Elevated circulating aspartate aminotransferase concentration, Cirrho... ORPHA:402823
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Fadd-Related Immunodeficiency
Hepatic fibrosis, Decreased liver function ORPHA:306550
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pneumonia, Reduce... OMIM:619281
Mueller-Weiss Syndrome
Tibiofibular diastasis, Sclerosis of foot bone, Tibial torsion, Abnormality of the os naviculare ... ORPHA:566943
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis OMIM:613796
Immunodeficiency 97 With Autoinflammation
Diarrhea, Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosple... OMIM:619802
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Cholestasi... OMIM:619662
Van Buchem Disease
Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis OMIM:239100
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Osteomyelitis, Anemia, Neutropen... OMIM:614172
Immunodeficiency 104
Pneumonia, Diarrhea, Gastroesophageal reflux, Chronic mucocutaneous candidiasis, Eczematoid derma... OMIM:608971
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibod... OMIM:247800
Immunodeficiency With Hyper-Igm, Type 1
Diarrhea, Enteroviral encephalitis, Increased circulating IgA level, Neutropenia, Meningitis, Rec... OMIM:308230
Glycogen Storage Disease Iii
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Elevat... OMIM:232400
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Periportal fibrosis OMIM:213010
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Persistent CMV viremia, Recurrent viral infections, Decreased specific anti-polysaccharide antibo... OMIM:300853
Immunodeficiency 53
Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent urinary tract infect... OMIM:617585
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Splenomegaly, Hepatomegaly OMIM:616719
Hypogonadism, Male
Testicular atrophy, Hypospadias, Male hypogonadism, Micropenis OMIM:241100
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hyper... ORPHA:369
Complement Component 8 Deficiency, Type Ii
Decreased circulating complement C8 concentration, Meningitis, Recurrent Neisserial infections OMIM:613789
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Diarrhea, Impaired T... OMIM:240500
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, Recurrent respiratory infections, T lymphocytopenia, B lymphocyt... OMIM:233650
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, Atopic dermatitis, Decreased specific anti-polysaccharide... ORPHA:70593
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Abnormality of T cell physiology, Rec... OMIM:308220
Metaphyseal Dysplasia, Braun-Tinschert Type
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... ORPHA:85188
Glycogen Storage Disease Vi
Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Increased hepatic glycog... OMIM:232700
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent viral infections, Increased circulating IgE level, ... OMIM:611521
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired ne... OMIM:618986
Agammaglobulinemia 7, Autosomal Recessive
Recurrent infections, Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulin... OMIM:615214
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... OMIM:606843
Osteopetrosis, Autosomal Dominant 1
Abnormal pelvic girdle bone morphology, Abnormality of the vertebral column, Thickened cortex of ... OMIM:607634
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Immunodeficiency 52
Persistent CMV viremia, Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphop... OMIM:617514
Immunodeficiency 61
Recurrent otitis media, Decreased circulating IgG2 level, Recurrent sinusitis, Recurrent bacteria... OMIM:300310
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Specific Granule Deficiency 1
Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Recurrent... OMIM:245480
Patent Ductus Venosus
Hypergalactosemia, Hyperammonemia, Hepatic steatosis, Decreased liver function OMIM:601466
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Hepatitis, Increased circulating ferritin conc... OMIM:300635
Reticular Dysgenesis
Sepsis, Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital ag... OMIM:267500
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Hepatic bridging fibrosis, Portal inflammation, Elevated circulating alanine aminotransferase con... OMIM:613759
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Abnormal limb bone morphology, Limb undergrowth, Abnormal cortica... ORPHA:2204
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Acute hepatic failure, Hepat... OMIM:278000
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Immunodeficiency 109 With Lymphoproliferation
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho... OMIM:620282
Hip Dysplasia, Beukes Type
Kyphosis, Abnormal epiphysis morphology, Broad femoral neck, Abnormality of the epiphysis of the ... ORPHA:2114
Immunodeficiency 32B
Pneumonia, Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, Hepatomegaly, ... OMIM:226990
Agammaglobulinemia 3, Autosomal Recessive
Diarrhea, Recurrent otitis media, Recurrent bronchitis, Agammaglobulinemia, Absent circulating B ... OMIM:613501
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Hepatic steatosis, Increased circulating copper concentration, Copper accumulation in ... ORPHA:209919
Isolated Osteopoikilosis
Sclerotic foci within carpal bones, Tarsal sclerosis, Limitation of joint mobility, Abnormal pelv... ORPHA:166119
Aspergillosis
Pneumonia, Unusual CNS infection, Keratitis, Hepatitis, Increased circulating IgE level, Osteomye... ORPHA:1163
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Bronchiectasis, Decrease... OMIM:618394
Diarrhea 13
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatic steatosis OMIM:620357
Immunodeficiency 66
Sepsis, Pustule, Defective T cell proliferation, Meningitis, Recurrent skin infections OMIM:618847
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
Combined Immunodeficiency Due To Dock8 Deficiency
Pneumonia, Atopic dermatitis, Chronic otitis media, Recurrent viral infections, Recurrent candida... ORPHA:217390
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Hepatic steatosis OMIM:261650
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... OMIM:616217
Whim Syndrome 1
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Neutropenia, Recur... OMIM:193670
Complete Androgen Insensitivity Syndrome
Acne, Elevated circulating luteinizing hormone level, Abnormal morphology of female internal geni... ORPHA:99429
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... OMIM:202700
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Galactosemia Iv
Hepatomegaly, Prolonged neonatal jaundice, Hypergalactosemia OMIM:618881
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Abnormal B cell morphology, Recurrent infections, Decreased circulating antib... OMIM:616911
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... ORPHA:90791
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circula... OMIM:613812
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Decreased circulating IgG level, Recurrent upper respiratory tract infections... OMIM:616100
Selective Igm Deficiency
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-positive T ce... ORPHA:331235
Gallbladder Disease 1
Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal... OMIM:600803
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ... OMIM:620430
Activated Pi3K-Delta Syndrome
Pneumonia, Recurrent tonsillitis, Recurrent otitis media, Decreased circulating antibody level, S... ORPHA:397596
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Adult Idiopathic Neutropenia
Lymphopenia, Recurrent aphthous stomatitis, Neutropenia, Monocytosis, Monocytopenia, Increased ci... ORPHA:2688
Immunodeficiency 110 With Lymphoproliferation
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Ch... OMIM:614868
Retinitis Pigmentosa 89
Hepatic fibrosis, Hepatosplenomegaly, Intrahepatic bile duct dilatation, Micronodular cirrhosis OMIM:618955
Non-Functioning Pituitary Adenoma
Hypopituitarism, Central adrenal insufficiency, Anemia of inadequate production, Decreased fertil... ORPHA:91349
Reticular Dysgenesis
Sepsis, Abnormality of neutrophils, Leukopenia, Skin rash, Anemia, Recurrent respiratory infectio... ORPHA:33355
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hepatic steatosis, Hypertriglyceridemia ORPHA:280356
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1
Recurrent herpes, Herpes simplex encephalitis OMIM:610551
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly ORPHA:79281
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction ORPHA:481
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent otitis media, Agammaglobulinemia, B lymphocytopenia, Post-vaccination polio, Recurrent ... OMIM:616941
Ovarian Fibrothecoma
Abnormality of the ovary, Gonadal calcification, Metrorrhagia, Abnormal endometrium morphology, O... ORPHA:314478
Isolated Agammaglobulinemia
Pneumonia, Sepsis, Abnormality of neutrophils, Abnormal lymphocyte morphology, Otitis media, Skin... ORPHA:229717
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... OMIM:613496
Bone Marrow Failure Syndrome 5
Hypogonadism, Erythroid hypoplasia, Anemia, Testicular atrophy, Pure red cell aplasia, Decreased ... OMIM:618165
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Pneumonia, Recurrent mycobacterial infections, Abnormal circulating interleukin concentration, Re... ORPHA:319552
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ... ORPHA:90797
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Bile Acid Malabsorption, Primary, 2
Elevated gamma-glutamyltransferase level, Periportal fibrosis, Decreased circulating chenodeoxych... OMIM:619481
Coach Syndrome 2
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Portal fibrosis, Eleva... OMIM:619111
Congenital Disorder Of Glycosylation, Type Iic
Pneumonia, Reduction of neutrophil motility, Bronchiolitis, Periodontitis, Recurrent otitis media... OMIM:266265
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Recurre... ORPHA:183675
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Abnormality of tumor necrosis factor secretion, Increased circulating interfero... ORPHA:540
Congenital Disorder Of Glycosylation, Type Iir
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... OMIM:301045
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density OMIM:241520
Immunodeficiency 10
Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Recurrent urinary tract infections,... OMIM:612783
Polyembryoma
Irregular menstruation, Increased serum serotonin, Abnormality of the endocrine system, Abnormal ... ORPHA:180229
Flynn-Aird Syndrome
Joint stiffness, Increased bone density with cystic changes, Kyphoscoliosis, Osteoporosis, Increa... OMIM:136300
Immunodeficiency 86
Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst, BCGitis OMIM:619549
Functioning Gonadotropic Adenoma
Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f... ORPHA:91348
Immunodeficiency 27A
Pneumonia, Diarrhea, Anorexia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased inflamma... OMIM:209950
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent upper respiratory tract infections, Inflammatory abnormality of the skin, Recurrent pne... ORPHA:277
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Inflammation of the large intestine, Diarrhea, Psoriasiform dermatitis, Recurrent lower respirato... ORPHA:436159
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, B lymphocy... OMIM:618987
Melorheostosis
Joint stiffness, Ectopic ossification in muscle tissue, Hyperostosis, Arthritis, Increased bone m... ORPHA:2485
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level, Recurrent infection of the gastr... OMIM:609529
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Abnormal pelvic girdle bone morphology, Mandibular osteomyelitis, Fractures o... OMIM:166600
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
Alpha-1-Antitrypsin Deficiency
Hepatic failure, Reduced circulating alpha-1-antitrypsin concentration, Hepatitis, Cholestasis, C... ORPHA:60
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, Atopic dermatitis, Recurrent upper respirat... OMIM:618806
Metaphyseal Chondrodysplasia, Spahr Type
Abnormal epiphysis morphology, Reduced bone mineral density, Abnormal metaphysis morphology, Bowi... ORPHA:2501
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Platyspondyly, Irregular acetabular roof, Metaphyseal dysplasia, Reduced bone mineral density, Ge... OMIM:617974
C1Q Deficiency 3
Discoid lupus rash, Decreased circulating C1q concentration, Recurrent bacterial meningitis OMIM:620322
Endosteal Hyperostosis, Autosomal Dominant
Sclerotic vertebral body, Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone ... OMIM:144750
Weismann-Netter Syndrome
Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Abnormal tibia morpholog... ORPHA:3344
Pgm3-Cdg
Allergic rhinitis, Abnormal CD4:CD8 ratio, Recurrent viral infections, Increased circulating IgE ... ORPHA:443811
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Upper limb undergrowth, Aplasia/hypoplasia involving bones o... ORPHA:75508
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... OMIM:618108
Dyskeratosis Congenita, Autosomal Recessive 2
Bone marrow hypocellularity, Pancytopenia, Cirrhosis, Thrombocytopenia, Testicular atrophy OMIM:613987
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Decreased circulating IgG level, Recurrent upper respiratory tract infections, Pneumoc... OMIM:614069
Pfapa Syndrome
Malabsorption, Nausea and vomiting, Splenomegaly, Infectious encephalitis, Arthritis, Recurrent p... ORPHA:42642
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619824
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:607765
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Cholestasis, Progressive Familial Intrahepatic, 6
Intrahepatic cholestasis, Periportal fibrosis, Elevated circulating hepatic transaminase concentr... OMIM:619484
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Acute hepatic failure, Hepatic fibrosis, Hepatosplenomegaly ORPHA:466794
Autosomal Agammaglobulinemia
Sepsis, Bronchiectasis, Hepatitis, Recurrent respiratory infections, Osteomyelitis, Skin rash, Ag... ORPHA:33110
Immunodeficiency 70
Decreased circulating total IgG, Celiac disease, Decreased proportion of CD4-positive helper T ce... OMIM:618969
Complement Component 4B Deficiency
Recurrent otitis media, Recurrent pneumonia, Recurrent sinusitis, Chronic active hepatitis OMIM:614379
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Meningitis, Chronic otitis media, Eczematoid dermatitis, Opportunistic inf... ORPHA:83471
Neutropenia, Chronic Familial
Periodontitis, Neutropenia, Increased circulating antibody level OMIM:162700
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Pneumonia, Cutaneous anergy, Recurrent upper respiratory tract infections, Absent natural killer ... OMIM:600802
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Skin rash, Splenomegaly, Hypertriglyceridemia OMIM:619175
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced natural killer c... OMIM:619510
Hjv Or Hamp-Related Hemochromatosis
Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra... ORPHA:79230
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Inc... ORPHA:206484
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... OMIM:614700
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Eczematoid dermatitis, Neutropenia OMIM:300299
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Abnormality of the pancreas, Abnormal biliary tract morphology ORPHA:3032
Immunodeficiency 44
Post-vaccination measles, Severe viral infection, Lymphopenia, Decreased circulating IgA level, A... OMIM:616636
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Hypertriglyceridemia ORPHA:436182
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Atopic dermatitis, Recurrent viral infections, Gastroesophageal reflux, Increased circulating IgE... OMIM:620532
Hepatorenocardiac Degenerative Fibrosis
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hepatosplenom... OMIM:619902
Immunodeficiency 15B
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Chr... OMIM:615592
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Premature adrenarche, Clitoral hypertrophy, Polycystic ovaries, Decreased circulating renin level... ORPHA:90795
Intermediate Osteopetrosis
Erlenmeyer flask deformity of the femurs, Sandwich appearance of vertebral bodies, Cortical scler... ORPHA:210110
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Azoospermia... OMIM:308700
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Spondyloepiphyseal Dysplasia Tarda
Enlarged metaphyses, Hypoplasia of the odontoid process, Limitation of joint mobility, Finger swe... ORPHA:93284
Immunodeficiency 116
Recurrent viral infections, Absence of CD8-positive T cells, Recurrent bacterial infections, Recu... OMIM:608957
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility, Dysphagia OMIM:313200
Childhood Disintegrative Disorder
Mental deterioration, Abnormal emotion, Reduced social reciprocity, Social and occupational deter... ORPHA:168782
Ras-Associated Autoimmune Leukoproliferative Disorder
Recurrent infections, Pancytopenia, Splenomegaly, Increased circulating antibody level, Lymphocyt... OMIM:614470
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Hepatic failure, Portal fibr... OMIM:617394
Immunodeficiency 67
Recurrent staphylococcal infections, Abnormal T cell count, Increased circulating IgE level, Tran... OMIM:607676
47,Xyy Syndrome
Varicocele, Azoospermia, Cryptorchidism, Increased serum testosterone level, Oligozoospermia, Inc... ORPHA:8
Immune Deficiency, Familial Variable
Recurrent infections, Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Mccune-Albright Syndrome
Increased circulating cortisol level, Increased circulating prolactin concentration, Cholestasis,... ORPHA:562
Mannose-Binding Lectin Deficiency
Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated cryptosporidium in... OMIM:614372
Mpi-Cdg
Hypoalbuminemia, Hepatic fibrosis, Decreased liver function, Abnormal circulating enzyme concentr... ORPHA:79319
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Lethal Recessive Chondrodysplasia
Micromelia, Flared elbow metaphyses, Limb undergrowth, Generalized osteosclerosis, Short long bone ORPHA:1423
Hemochromatosis, Type 1
Azoospermia, Splenomegaly, Hypogonadotropic hypogonadism, Amenorrhea, Cirrhosis, Hepatomegaly, He... OMIM:235200
Maternal Uniparental Disomy Of Chromosome 6
Clitoral hypertrophy, Eczematoid dermatitis, Congenital adrenal hyperplasia, Increased serum test... ORPHA:96181
Partial Chromosome Y Deletion
Non-obstructive azoospermia, Decreased testicular size, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Immunodeficiency 92
Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta... OMIM:619652
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Thr... OMIM:615285
Immunodeficiency 36 With Lymphoproliferation
Persistent CMV viremia, Decreased circulating IgG level, Recurrent upper respiratory tract infect... OMIM:616005
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:616828
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Abnormal epiphysis morphology, Abnormal hip bone morphology, Abnormal cortic... ORPHA:970
Immunodeficiency, Common Variable, 14
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... OMIM:617765
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Recurrent viral infections, Abnormal circulating IgM leve... OMIM:618048
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Recurrent otitis media, Splenomegaly, Hepatitis ORPHA:444463
Metatropic Dysplasia
Hypoplastic cervical vertebrae, Coarse metaphyseal trabecularization, Abnormal enchondral ossific... ORPHA:2635
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Hepatic steatosis, Hypertriglyceridemia, Hypercholestero... OMIM:615703
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Hepatic fibrosis, Hepatosplenomegaly, Chilblains, Intestinal inflammat... OMIM:619858
Zika Virus Disease
Myelitis, Vomiting, Skin rash, Maculopapular exanthema, Infectious encephalitis, Arthritis, Throm... ORPHA:448237
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Recurrent pneumonia, Recurrent skin infections, Autoimmune hemolytic anemia, ... OMIM:616576
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Hepatic steatosis, Cirrhosis, Osteoarthritis, Hepat... OMIM:606069
Otopalatodigital Syndrome Type 1
Short distal phalanx of finger, Limitation of joint mobility, Synostosis of carpal bones, Short t... ORPHA:90650
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Hepatic necrosis, Hepatic steatosis, Decreased 3-hydroxyacyl-CoA dehyd... OMIM:231530
Myelolymphatic Insufficiency
Recurrent bacterial infections, Leukopenia, Recurrent viral infections, Hyposegmentation of neutr... OMIM:310350
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,... OMIM:618528
Pyle Disease
Platyspondyly, Genu valgum, Limited elbow extension, Reduced bone mineral density, Thin bony cort... OMIM:265900
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Recurrent mycobacterial infections, Recurrent viral infections, ... ORPHA:275
Immunodeficiency 105
Decreased circulating IgG level, Reduced natural killer cell count, Lymphopenia, Decreased circul... OMIM:619924
Immunoglobulin Kappa Light Chain Deficiency
Diarrhea, Recurrent respiratory infections, Absent circulating immunoglobulin kappa chain, Recurr... OMIM:614102
Congenital Macroglossia
Abnormal hepatic glycogen storage, Neurofibroma ORPHA:2430
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Gracile Syndrome
Increased circulating ferritin concentration, Cholestasis, Hepatic steatosis, Cirrhosis, Elevated... ORPHA:53693
Familial Expansile Osteolysis
Pathologic fracture, Bowing of the long bones, Osteolysis, Thin bony cortex OMIM:174810
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hypocalcemia, Hypercholesterolemia, Hypertri... OMIM:612526
Immunoglobulin A Deficiency 1
Recurrent respiratory infections, Decreased circulating IgA level, Recurrent infection of the gas... OMIM:137100
Complement Factor B Deficiency
Pneumonia, Decreased circulating complement factor B concentration, Recurrent meningococcal disea... OMIM:615561
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Toe clinodactyly, Limitation of joint mobility, Upper limb undergrowth, Pathologic fracture, Abno... ORPHA:166277
Immunodeficiency 115 With Autoinflammation
Decreased circulating IgG level, Recurrent viral infections, Eczematoid dermatitis, Intestinal ly... OMIM:620632
Cyclic Neutropenia
Periodontitis, Lymphopenia, Cyclic neutropenia, Otitis media, Perianal abscess, Tooth abscess, Pe... ORPHA:2686
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Portal fibrosis, Increased total bilir... OMIM:619868
Felty Syndrome
Synovitis, Neutropenia, Recurrent pharyngitis, Chronic otitis media, Abnormal lymphocyte morpholo... ORPHA:47612
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 7
Herpes simplex encephalitis OMIM:616532
Neonatal Alloimmune Neutropenia
Pneumonia, Sepsis, Severe infection, Neutropenia in presence of anti-neutropil antibodies, Mening... ORPHA:464370
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Scedosporiosis
Pneumonia, Unusual CNS infection, Sepsis, Unusual skin infection, Bronchitis, Invasive fungal inf... ORPHA:449280
Immunodeficiency With Hyper-Igm, Type 4
Recurrent upper respiratory tract infections, Osteomyelitis, Recurrent infection of the gastroint... OMIM:608184
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Coarse metaphyseal trabecularization, Epiphyseal stippling, Bowing of the long bones, Abnormal bo... ORPHA:1952
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Neutropenia, Recurrent bacterial infect... OMIM:616022
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Decreased circulating carnitine concentration, Hepatocellular necrosis, Hepa... OMIM:201475
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Histiocytosis, Maculopapular exanthema ORPHA:157991
Bullous Impetigo
Sepsis, Pustule, Glomerulopathy, Septic arthritis, Recurrent bacterial skin infections ORPHA:36237
Metaphyseal Chondrodysplasia, Schmid Type
Abnormal vertebral morphology, Radial metaphyseal irregularity, Genu varum, Irregular vertebral e... ORPHA:174
Specific Granule Deficiency 2
Recurrent pneumonia, Sepsis, Sandal gap, Recurrent otitis media, Absent neutrophil specific granu... OMIM:617475
Infantile Liver Failure Syndrome 3
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ... OMIM:618641
Complement Component 8 Deficiency, Type I
Decreased circulating complement C8 concentration, Meningitis OMIM:613790
Immunodeficiency 96
Decreased circulating IgG level, Increased mean corpuscular volume, Increased proportion of gamma... OMIM:619774
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Hepatic... ORPHA:209902
Carcinoid Syndrome
Abnormal circulating B-type natriuretic peptide concentration, Elevated circulating hepatic trans... ORPHA:100093
C1Q Deficiency 2
Discoid lupus rash, Pneumocystis carinii pneumonia, Sepsis, Atelectasis, Recurrent otitis media, ... OMIM:620321
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion ... OMIM:601859
Roifman Syndrome
Recurrent pneumonia, Eczematoid dermatitis, Recurrent otitis media, Hepatosplenomegaly, Hypogonad... ORPHA:353298
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Pneumonia, Genital ulcers, Panhypogammaglob... OMIM:602450
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia, Arthritis ORPHA:2582
Spermatogenic Failure 44
Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreased testicular size... OMIM:619044
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Type I diabetes mellitus, Eczematoid dermatitis, Hepatitis, Increased circulating IgE level, Decr... OMIM:304790
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Elevated circulating aspartate aminotransferase concentration, Decreased plasma free carnitine, H... OMIM:619048
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent pneumonia, Recurrent tonsillitis, Renal insufficiency, Membranoproliferative glomerulon... OMIM:613779
Immunodeficiency 23
Allergic rhinitis, Recurrent staphylococcal infections, Eczematoid dermatitis, Chronic mucocutane... OMIM:615816
Caffey Disease
Cortical irregularity, Periosteal thickening of long tubular bones, Tibial bowing, Joint hypermob... OMIM:114000
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I... ORPHA:79303
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... OMIM:600649
Bacterial Toxic-Shock Syndrome
Diarrhea, Abscess, Glomerulonephritis, Meningitis, Abdominal pain, Recurrent skin infections, Ost... ORPHA:36234
Porphyria Cutanea Tarda
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation... ORPHA:101330
Avian Influenza
Pneumonia, Myelitis, Sepsis, Diarrhea, Hepatitis, Vomiting, Lymphopenia, Leukopenia, Pleural effu... ORPHA:454836
Meckel Syndrome, Type 3
Malformation of the hepatic ductal plate, Hepatic fibrosis, Bile duct proliferation, Hepatomegaly OMIM:607361
Combined Oxidative Phosphorylation Deficiency 21
Hyperprolinemia, Hyperalaninemia, Hepatic steatosis OMIM:615918
X-Linked Agammaglobulinemia
Recurrent pneumonia, Sepsis, Abnormal lung morphology, Hepatitis, Conjunctivitis, Osteomyelitis, ... ORPHA:47
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Recurrent viral infections, Lymphadenitis, Recurrent enteroviral infections, Protracted diarrhea,... ORPHA:331206
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Diarrhea, Lymphopenia, Hepatosplenomegaly, Abnormal circula... ORPHA:391487
Citrullinemia, Type Ii, Neonatal-Onset
Elevated gamma-glutamyltransferase level, Hyperbilirubinemia, Hyperthreoninemia, Elevated circula... OMIM:605814
Hepatoportal Sclerosis
Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circula... ORPHA:64743
Familial Mediterranean Fever
Diarrhea, Vomiting, Erysipelas, Leukocytosis, Splenomegaly, Chronic constipation, Orchitis, Crohn... OMIM:249100
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona... OMIM:308750
Dysosteosclerosis
Platyspondyly, Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Hypoplastic verte... ORPHA:1782
Gnathodiaphyseal Dysplasia
Osteopenia, Diaphyseal cortical sclerosis, Osteomyelitis, Increased susceptibility to fractures, ... OMIM:166260
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, E... OMIM:251880
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Kimura Disease
Increased circulating IgE level, Eosinophilia, Abnormal salivary gland morphology ORPHA:482
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hyperbilirubinemia, S... OMIM:620010
Legionnaires Disease
Bone marrow hypocellularity, Sepsis, Diarrhea, Hepatitis, Anorexia, Lymphopenia, Abnormal pleura ... ORPHA:549
Intellectual Developmental Disorder, Autosomal Recessive 66
Attention deficit hyperactivity disorder, Excessive shyness OMIM:618221
Cholestasis-Lymphedema Syndrome
Elevated circulating hepatic transaminase concentration, Erysipelas, Neonatal cholestatic liver d... OMIM:214900
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent viral infections, Abnormal CD4:CD8 ratio, Pancytopenia, Decreased proportion of CD4-pos... ORPHA:572
Juvenile Temporal Arteritis
Allergic rhinitis, Conjunctivitis, Eosinophilia, Leukocytosis ORPHA:26137
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Keratitis, Eczematoid dermatitis, Increased circulating IgE level, Recurrent otitis media, Eosino... OMIM:618523
Eosinophilia, Familial
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia OMIM:131400
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Elevated circulating creatinine concentration, Hepatic steatosis, Increased bloo... OMIM:617872
Osteogenesis Imperfecta, Type Xxii
Multiple small vertebral fractures, Slender long bone, Bowing of the long bones, Pseudoarthrosis,... OMIM:619795
Bile Acid Synthesis Defect, Congenital, 4
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:214950
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Meningitis, Herpes simplex encephalitis OMIM:617900
Hepatitis, Fulminant Viral, Susceptibility To
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hashimoto thyroiditis, ... OMIM:618549
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Diaphyseal dysplasia, Increased bone mineral density, Hyperostosis cranialis interna OMIM:231095
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Congenital Enterovirus Infection
Hepatic failure, Sepsis, Hepatitis, Leukopenia, Leukocytosis, Abnormal macrophage morphology, Ple... ORPHA:292
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating IgG level, Reduced natural killer cell count, Recurrent upper respiratory t... OMIM:619752
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Elevated gamma-glutamyltransferase l... OMIM:617093
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Recurrent viral infections, Recurrent enteroviral infecti... ORPHA:79124
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent viral infections, Lymphopenia, Hepatosplenomegaly, Acute otitis media, Pustule, Rectova... ORPHA:35078
Immunodeficiency 59 And Hypoglycemia
Recurrent upper respiratory tract infections, Arteritis, Sepsis, Acne inversa, Herpes simplex enc... OMIM:233600
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Type I diabetes mellitus, Eczematoid dermatitis, Exocrine pancreatic insufficiency, Hepatosplenom... OMIM:615952
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Bronchiolitis, Decreased circulating IgA level, Interstitial pneumonitis, Enterocolitis, Decrease... OMIM:614878
Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11
Viral encephalitis OMIM:619441
Immunodeficiency 13
Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent otitis media, Lympho... OMIM:615518
Combined Oxidative Phosphorylation Deficiency 52
Elevated circulating aspartate aminotransferase concentration, Hyperglycinemia, Hepatic steatosis... OMIM:619386
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II diabetes mellitus, Polycystic ovar... ORPHA:2298
Ovarian Fibroma
Abnormality of the ovary, Gonadal calcification, Ovarian fibroma, Peritonitis, Mesenteric cyst ORPHA:314473
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased serum testosterone concentration, Hepatocellular carcinoma, Decreased libido, Portal hy... ORPHA:465508
Wolfram Syndrome 1
Sideroblastic anemia, Hypothyroidism, Megaloblastic anemia, Dysphagia, Thrombocytopenia, Testicul... OMIM:222300
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent viral infections, Lymphadenitis, Decreased proportion of CD8-positive T cells, Hepatosp... ORPHA:911
Osteopetrosis, Autosomal Recessive 9
Pathologic fracture, Increased bone mineral density, Osteopetrosis, Cortical sclerosis OMIM:620366
Congenital Disorder Of Glycosylation, Type Iiaa
Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ... OMIM:620454
Wilson Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Acute ... ORPHA:905
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Elevated gamma-glu... ORPHA:53035
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Pancreatitis, Hepatic steatosis ORPHA:79084
Autoimmune Lymphoproliferative Syndrome, Type Iia
Nephritis, Gastrointestinal hemorrhage, Reduced delayed hypersensitivity, Malar rash, Autoimmune ... OMIM:603909
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatomegaly, Abnormal circulating creatine kinase concentration, Elevated circulating hepatic tr... ORPHA:369840
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Cirrhosis, Hepatomegaly, Steatorrhea OMIM:602579
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis OMIM:122860
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Increased hepatic glycogen content ORPHA:293964
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin OMIM:236000
Autoimmune Hepatitis
Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Vir... ORPHA:2137
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Hepatic steatosis, Pancreatitis, Elevated circulating alanine aminotransferase c... OMIM:618805
Immunodeficiency 34
Recurrent mycobacterial infections, Pulmonary tuberculosis, BCGosis OMIM:300645
Neutrophil Immunodeficiency Syndrome
Abnormality of neutrophil physiology, Leukocytosis ORPHA:183707
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Crohn's disease, Agammaglobulinemia, Absent circulating B cells,... OMIM:619705
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Recurrent enteroviral infections, Rectal abscess, Panhypogammaglobulinemia, ... OMIM:601495
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Senior-Loken Syndrome
Congenital hepatic fibrosis ORPHA:3156
Microsporidiosis
Lymphadenitis, Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Ke... ORPHA:2552
Glucocorticoid Resistance, Generalized
Irregular menstruation, Increased circulating cortisol level, Increased circulating ACTH level, I... OMIM:615962
Obesity And Hypopigmentation
Hepatic steatosis OMIM:620195
Nipah Virus Disease
Recurrent pharyngitis, Nausea and vomiting, Anorexia, Infectious encephalitis ORPHA:99825
Lipodystrophy, Partial, Acquired, Susceptibility To
Abnormal circulating lipid concentration, Hepatic steatosis, Membranoproliferative glomerulonephr... OMIM:608709
Netherton Syndrome
Allergic rhinitis, Decreased circulating IgG level, Sepsis, Eczematoid dermatitis, Increased circ... OMIM:256500
Paget Disease Of Bone 3
Patchy osteosclerosis, Fractures of the long bones, Osteolysis OMIM:167250
Cranio-Osteoarthropathy
Clubbing of toes, Deviation of finger, Abnormal tibia morphology, Joint stiffness, Abnormal corti... ORPHA:1525
Spermatogenic Failure 77
Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor... OMIM:620103
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 10
Herpes simplex encephalitis OMIM:619396
Spondylometaphyseal Dysplasia, Pagnamenta Type
Platyspondyly, Rhizomelia, Broad thumb, Short 5th metacarpal, Femoral bowing, Short 4th metacarpa... OMIM:619638
Osteogenesis Imperfecta, Type Xiv
Osteopenia, Femoral bowing, Increased susceptibility to fractures, Scoliosis, Recurrent fractures OMIM:615066
Osteopetrosis, Autosomal Recessive 4
Increased bone mineral density, Sclerotic vertebral endplates, Osteopetrosis, Recurrent fractures OMIM:611490
Diastrophic Dysplasia
Ulnar deviation of finger, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies,... ORPHA:628
Peritoneal Cystic Mesothelioma
Metrorrhagia, Peritonitis, Constipation, Dyspareunia, Menorrhagia ORPHA:168816
Acute Lung Injury
Pneumonia, Diffuse alveolar hemorrhage, Sepsis, Abnormality of tumor necrosis factor secretion, A... ORPHA:178320
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome