Gene Summary

Name:
ariadne RBR E3 ubiquitin protein ligase 2
Synonyms:
TRIAD1

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal kidney morphology Arih2tm1.1(KOMP)Vlcg HET Early adult 0.00
abnormal heart morphology Arih2tm1.1(KOMP)Vlcg HET Early adult 0.00
abnormal embryo size Arih2tm1.1(KOMP)Vlcg HET E9.5 0.00
enlarged heart Arih2tm1.1(KOMP)Vlcg HET Early adult 0.00
abnormal skin morphology Arih2tm1.1(KOMP)Vlcg HET Early adult 0.00
abnormal embryo size Arih2tm1.1(KOMP)Vlcg HOM E9.5 0.00
preweaning lethality, complete penetrance Arih2tm1.1(KOMP)Vlcg HOM   Early adult 0.00
embryonic growth retardation Arih2tm1.1(KOMP)Vlcg HOM E9.5 0.00
abnormal urinary bladder morphology Arih2tm1.1(KOMP)Vlcg HET Early adult 0.00
embryonic growth retardation Arih2tm1.1(KOMP)Vlcg HET E9.5 0.00
cystolithiasis Arih2tm1.1(KOMP)Vlcg HET Early adult 0.00
polycystic kidney Arih2tm1.1(KOMP)Vlcg HET Early adult 0.00

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 50% (2 of 4)
Aorta  Section images heterozygote 50% (2 of 4)
Blood  Section images heterozygote 100% (2 of 2)
Bone marrow  Section images heterozygote 100% (2 of 2)
Brown adipose tissue  Section images heterozygote 100% (4 of 4)
Cecum  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 50% (2 of 4)
Colon  Section images heterozygote 100% (2 of 2)
Diaphragm  Section images heterozygote 100% (2 of 2)
Duodenum  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 50% (2 of 4)
Eye  Section images heterozygote 50% (2 of 4)
Gonadal fat pad  Section images heterozygote 100% (2 of 2)
Harderian gland  Section images heterozygote 100% (2 of 2)
Ileum  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (4 of 4)
Liver  Section images heterozygote 50% (2 of 4)
Lung  Section images heterozygote 100% (4 of 4)
Mammary gland  Section images heterozygote 25% (1 of 4)
Mesenteric adipose tissue  Section images heterozygote 100% (2 of 2)
Mesenteric lymph node  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 25% (1 of 4)
Ovary  Section images heterozygote 25% (1 of 4)
Oviduct  Section images heterozygote 25% (1 of 4)
Pancreas  Section images heterozygote 100% (4 of 4)
Parathyroid gland  Section images heterozygote 50% (1 of 2)
Parotid gland  Section images heterozygote 100% (2 of 2)
Penis  Section images heterozygote 50% (1 of 2)
Pituitary gland  Section images heterozygote 25% (1 of 4)
Prostate gland  Section images heterozygote 50% (2 of 4)
Quadriceps  Section images heterozygote 100% (2 of 2)
Sciatic nerve  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (4 of 4)
Spinal cord  Section images heterozygote 100% (4 of 4)
Spleen  Section images heterozygote 50% (2 of 4)
Stomach  Section images heterozygote 50% (2 of 4)
Striatum  Section images heterozygote 25% (1 of 4)
Sublingual gland  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 25% (1 of 4)
Thymus  Section images heterozygote 50% (2 of 4)
Thyroid gland  Section images heterozygote 100% (4 of 4)
Tongue  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (4 of 4)
Trigeminal V nerve  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (2 of 4)
Vas deferens  Section images heterozygote 50% (1 of 2)
Vesicular gland  Section images heterozygote 50% (1 of 2)
Brain N/A heterozygote 50% (2 of 4)
Brainstem N/A heterozygote 0.0% (0 of 4)
Cartilage tissue N/A heterozygote 0.0% (0 of 4)
Cerebral cortex N/A heterozygote 50% (2 of 4)
Chest bone N/A heterozygote Not available
Gall bladder N/A heterozygote Not available
Heart N/A heterozygote 50% (2 of 4)
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote 0.0% (0 of 4)
Hypothalamus N/A heterozygote 0.0% (0 of 4)
Jejunum N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 100% (4 of 4)
Lower urinary tract N/A heterozygote 0.0% (0 of 4)
Lymph node N/A heterozygote 0.0% (0 of 4)
Peripheral nervous system N/A heterozygote 0.0% (0 of 4)
Peyer's patch N/A heterozygote 0.0% (0 of 4)
Skeletal muscle N/A heterozygote 25% (1 of 4)
Small intestine N/A heterozygote 100% (4 of 4)
Stomach pyloric region N/A heterozygote Not available
Vagina N/A heterozygote Not available
Vascular system N/A heterozygote 50% (2 of 4)
White adipose tissue N/A heterozygote 0.0% (0 of 4)

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

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 25% (2 of 8)
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
Ear N/A heterozygote 25% (2 of 8)
Embryo N/A heterozygote 25% (2 of 8)
Eye N/A heterozygote 25% (2 of 8)
Footplate N/A heterozygote 25% (2 of 8)
Forebrain N/A heterozygote 25% (2 of 8)
Forelimb N/A heterozygote 25% (2 of 8)
Gut N/A heterozygote 100% (2 of 2)
Handplate N/A heterozygote 25% (2 of 8)
Head N/A heterozygote 25% (2 of 8)
Heart N/A heterozygote 25% (2 of 8)
Hindbrain N/A heterozygote 25% (2 of 8)
Hindlimb N/A heterozygote 25% (2 of 8)
Liver N/A heterozygote 25% (2 of 8)
Lung N/A heterozygote 25% (2 of 8)
Mandibular process N/A heterozygote 25% (2 of 8)
Maxillary process N/A heterozygote 25% (2 of 8)
Midbrain N/A heterozygote 25% (2 of 8)
Nose N/A heterozygote 100% (2 of 2)
Oral cavity N/A heterozygote 25% (2 of 8)
Chorioallantoic placenta N/A heterozygote 100% (2 of 2)
Skeleton N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 25% (2 of 8)
Spinal cord N/A heterozygote 100% (2 of 2)
Tail somite N/A heterozygote 25% (2 of 8)
Tail N/A heterozygote 25% (2 of 8)
Trachea N/A heterozygote 100% (2 of 2)
Urinary system N/A heterozygote 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%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%

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)
axial skeleton Ambiguous
brain 0.0%
central nervous system ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
gut Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain Ambiguous
hindlimb 0.0%
liver Ambiguous
lung 0.0%
mandibular process 0.0%
maxillary process Ambiguous
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
placenta Ambiguous
skeleton Ambiguous
skin Ambiguous
spinal cord Ambiguous
tail Ambiguous
tail somite group Ambiguous
trachea Ambiguous
urinary system Ambiguous

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

8 Images

Adult LacZ

LacZ Images Section

194 Images

Embryo LacZ

LacZ images wholemount

31 Images

X-ray

XRay Images Whole Body Lateral Orientation

8 Images

Human diseases caused by Arih2 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 Arih2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 51
Chronic oral candidiasis, Recurrent otitis media, Recurrent bronchitis, Chronic mucocutaneous can... OMIM:613953
Acne Inversa, Familial, 3
Recurrent cutaneous abscess formation, Acne inversa, Chronic furunculosis, Perifolliculitis OMIM:613737
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys, Hepatosplenomegaly, Reduced... OMIM:617610
Immunodeficiency 53
Recurrent otitis media, Skin rash, Failure to thrive, Recurrent pneumonia, Recurrent upper respir... OMIM:617585
Nephronophthisis 14
Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Acne Inversa, Familial, 1
Acne inversa OMIM:142690
Chilblain Lupus 2
Chilblains OMIM:614415
Pulmonary Blastoma
Recurrent pneumonia, Pleuropulmonary blastoma, Weight loss ORPHA:64741
Nephronophthisis 16
Situs inversus totalis, Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Hypertrop... OMIM:615382
Complement Component C1S Deficiency
Hashimoto thyroiditis, Hepatitis OMIM:613783
Immunodeficiency 104
Recurrent otitis media, Hepatomegaly, Failure to thrive secondary to recurrent infections, Chroni... OMIM:608971
Idiopathic Bronchiectasis
Emphysema, Recurrent lower respiratory tract infections, Acute infectious pneumonia, Cachexia, Re... ORPHA:60033
Hepatocellular Carcinoma
Subacute progressive viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis OMIM:114550
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration OMIM:606664
Multicentric Reticulohistiocytosis
Arthritis, Cachexia ORPHA:139436
Complement Component 4B Deficiency
Recurrent sinusitis, Recurrent pneumonia, Recurrent otitis media, Chronic active hepatitis OMIM:614379
Mannose-Binding Lectin Deficiency
Recurrent skin infections, Failure to thrive OMIM:614372
Erythroderma, Lethal Congenital
Congenital exfoliative erythroderma, Failure to thrive OMIM:227090
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Folliculitis, Inflammation of the large intestine, Splenomegaly, Acne, Erythema nod... OMIM:300635
Dissecting Cellulitis Of The Scalp
Recurrent skin infections, Pruritus ORPHA:345
Benign Cephalic Histiocytosis
Skin rash, Inflammatory abnormality of the skin ORPHA:157997
Polycystic Kidney Disease 7
Multiple renal cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insuffic... OMIM:620056
Intellectual Developmental Disorder, Fra12A Type
Erythroderma, Recurrent lower respiratory tract infections OMIM:136630
Idiopathic Achalasia
Bronchitis, Recurrent aspiration pneumonia, Weight loss ORPHA:930
Renal Dysplasia, Cystic, Susceptibility To
Vesicoureteral reflux, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Cystic renal... OMIM:601331
Ethanolaminosis
Cardiomegaly OMIM:227150
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Elevated circulating hepatic transaminase concentration, Thyroiditis, Skin rash, Car... ORPHA:139402
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Kerion Celsi
Recurrent cutaneous abscess formation, Recurrent skin infections, Inflammatory abnormality of the... ORPHA:499
Hepatitis Delta
Cirrhosis, Jaundice, Fulminant hepatitis, Hepatocellular carcinoma, Elevated circulating alanine ... ORPHA:402823
Familial Reactive Perforating Collagenosis
Maculopapular exanthema, Perifolliculitis, Inflammatory abnormality of the skin, Crusting erythem... ORPHA:79147
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Pneumonia, Atopic dermatitis, Recurrent upper respiratory tract infections OMIM:618806
Chronic Actinic Dermatitis
Late onset atopic dermatitis, Allergic rhinitis, Eczematoid dermatitis, Erythroderma, Pruritus ORPHA:330064
Immunodeficiency 56
Cirrhosis, Recurrent otitis media, Cholangitis, Bronchiectasis, Failure to thrive, Recurrent sinu... OMIM:615207
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Recurrent otitis media, Hepatitis, Splenomegaly, Respiratory tract infection ORPHA:444463
Proteasome-Associated Autoinflammatory Syndrome 5
Failure to thrive in infancy, Skin rash, Hepatomegaly, Splenomegaly OMIM:619175
Erythroderma Desquamativum
Seborrheic dermatitis, Failure to thrive ORPHA:314
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Autosomal Agammaglobulinemia
Chronic otitis media, Arthritis, Skin rash, Sinusitis, Failure to thrive, Conjunctivitis, Bronchi... ORPHA:33110
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Jaundice, Emphysema, Panniculitis, Hepatomegaly, Bronchitis, Hepatocellular carcinoma,... ORPHA:60
Infundibulopelvic Dysgenesis
Microscopic hematuria, Multicystic kidney dysplasia OMIM:600989
Nephronophthisis 20
Nephronophthisis, Vesicoureteral reflux, Renal cyst, Stage 5 chronic kidney disease, Renal insuff... OMIM:617271
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Failure to thrive secondary to recurrent infections, Erythroderma, Recu... ORPHA:169160
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts, Mitral valve prolapse OMIM:173900
Melioidosis
Lung abscess, Unusual skin infection, Prostatitis, Liver abscess, Acute infectious pneumonia, Foo... ORPHA:31202
Verrucous Hemangioma
Inflammatory abnormality of the skin ORPHA:464318
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Multicystic kidney dysplasia, Renal insufficiency, Cardiomyopat... ORPHA:1909
Immunodeficiency 48
Hepatomegaly, Eczematoid dermatitis, Failure to thrive, Splenomegaly, Pneumonia, Recurrent respir... OMIM:269840
Aids Wasting Syndrome
Cachexia, Weight loss ORPHA:90081
Wilson Disease
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Acute... ORPHA:905
Pityriasis Rubra Pilaris
Erythroderma, Pustule, Pruritus, Eczematoid dermatitis ORPHA:2897
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Elevated circulating alkaline phosph... OMIM:613812
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Renal dysplasia, Multicystic kidney dyspla... OMIM:617805
Mulibrey Nanism
Cachexia, Hepatomegaly ORPHA:2576
Paget Disease, Extramammary
Eczematoid dermatitis OMIM:167300
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Polycystic kidney dysplasia, Hepatic cysts, Stage 5 chronic... OMIM:618061
Young Syndrome
Bronchiectasis, Recurrent bronchitis, Recurrent sinopulmonary infections, Congenital pulmonary ai... OMIM:279000
Autosomal Dominant Epidermolytic Ichthyosis
Erythroderma, Weight loss ORPHA:312
Immunodeficiency 15A
Recurrent otitis media, Chronic mucocutaneous candidiasis, Recurrent sinusitis, Recurrent respira... OMIM:618204
Complement Component C1R/C1S Deficiency
Arthritis, Discoid lupus rash, Nephritis, Recurrent bronchitis OMIM:216950
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Situs inversus totalis, Hepatomegaly, Dextrocardia, Recurrent urinary tract infections, Polycysti... OMIM:613095
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Bronchiectasis, Chronic bronchitis OMIM:613071
Congenital Lethal Erythroderma
Congenital exfoliative erythroderma, Failure to thrive ORPHA:1954
Bullous Diffuse Cutaneous Mastocytosis
Erythroderma, Pruritus ORPHA:280785
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst OMIM:615987
Isolated Congenital Hypoglossia/Aglossia
Weight loss, Aspiration pneumonia ORPHA:141152
Majeed Syndrome
Acne, Hepatomegaly, Cachexia, Synovitis, Failure to thrive, Pustule, Inflammatory abnormality of ... ORPHA:77297
X-Linked Agammaglobulinemia
Chronic otitis media, Arthritis, Skin rash, Sinusitis, Abnormal lung morphology, Failure to thriv... ORPHA:47
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Atopic dermatitis, Disseminated molluscum contagiosum, Colonic eosinophilia, Bronchiec... OMIM:617638
Thomas Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Hypoplastic left heart ORPHA:3316
Meckel Syndrome, Type 8
Pericardial effusion, Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys OMIM:613885
Hanac Syndrome
Hematuria, Multiple renal cysts, Renal insufficiency ORPHA:73229
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Perifolliculitis OMIM:260910
Congenital Ichthyosiform Erythroderma
Erythroderma, Failure to thrive, Keratitis, Pruritus ORPHA:79394
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Mounier-Kühn Syndrome
Pneumonia, Bronchitis, Recurrent respiratory infections, Recurrent bronchopulmonary infections ORPHA:3347
Ichthyosis, Congenital, Autosomal Recessive 7
Erythroderma OMIM:615022
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl... OMIM:618270
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia, Hepatomegaly OMIM:614859
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Inflammatory Skin And Bowel Disease, Neonatal, 1
Erythroderma, Blepharitis, Pustule, Failure to thrive OMIM:614328
Hyperparathyroidism 2 With Jaw Tumors
Renal cortical adenoma, Polycystic kidney dysplasia, Nephrolithiasis, Papillary renal cell carcin... OMIM:145001
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive secondary to recurrent infections, Arthritis, Failure to thrive, Purulent rhini... OMIM:601457
Immunodeficiency 58
Chronic otitis media, Recurrent aphthous stomatitis, Seborrheic dermatitis, Chronic mucocutaneous... OMIM:618131
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Erythrokeratodermia Variabilis Et Progressiva 1
Erythroderma OMIM:133200
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Failure to thrive, Aspiration pneumonia OMIM:609528
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Intrahepatic cholestasis, Giant cell hepatitis, Jaundice, Hepatomegaly, Elevated circu... OMIM:607765
Adult-Onset Still Disease
Myocarditis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pleuritis, Ar... ORPHA:829
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hepatic cysts OMIM:600666
Ciliary Dyskinesia, Primary, 33
Recurrent otitis media, Atelectasis, Recurrent lower respiratory tract infections, Recurrent bron... OMIM:616726
Epidermolytic Hyperkeratosis 1
Erythroderma OMIM:113800
Muscular Hypertonia, Lethal
Pneumonia OMIM:254120
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Polycystic kidney dysplasia, Renal angiomyolipoma OMIM:600273
Bile Acid Synthesis Defect, Congenital, 4
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Giant cell hep... OMIM:214950
Ciliary Dyskinesia, Primary, 9
Chronic otitis media, Pneumonia, Recurrent otitis media, Chronic rhinitis, Recurrent sinusitis, B... OMIM:612444
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatomegaly, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, Pancreat... OMIM:263200
Yao Syndrome
Pleuritis, Arthritis, Skin rash, Pericarditis, Inflammatory abnormality of the skin, Weight loss,... OMIM:617321
Immunodeficiency 50
Recurrent respiratory infections, Eczematoid dermatitis OMIM:300988
Agammaglobulinemia 9, Autosomal Recessive
Seborrheic dermatitis, Failure to thrive, Eczematoid dermatitis OMIM:619693
Benign Recurrent Intrahepatic Cholestasis
Cholestatic liver disease, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concent... ORPHA:65682
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Crigler-Najjar Syndrome, Type Ii
Jaundice, Elevated circulating hepatic transaminase concentration, Reduced tissue UDP-glucuronyl-... OMIM:606785
Netherton Syndrome
Chronic rhinitis, Eczematoid dermatitis, Failure to thrive, Erythroderma, Recurrent skin infectio... OMIM:256500
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Acne inversa OMIM:613736
Graft Versus Host Disease
Gastrointestinal inflammation, Jaundice, Elevated circulating hepatic transaminase concentration,... ORPHA:39812
Immunodeficiency 85 And Autoimmunity
Eczematoid dermatitis, Pulmonary fibrosis, Erythroderma, Failure to thrive in infancy, Recurrent ... OMIM:619510
Renal Tubular Dysgenesis
Proximal tubulopathy, Nephropathy, Tetralogy of Fallot, Multiple renal cysts, Renotubular dysgenesis ORPHA:3033
Systemic Lupus Erythematosus, Susceptibility To, 6
Malar rash, Arthritis, Pericarditis, Pleuritis OMIM:609939
Tracheobronchomegaly
Bronchiectasis, Recurrent bronchopulmonary infections OMIM:275300
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Recurrent respiratory infections, Hepatitis ORPHA:363523
Ciliary Dyskinesia, Primary, 44
Bronchiectasis, Recurrent sinusitis, Otitis media OMIM:618781
Ciliary Dyskinesia, Primary, 21
Recurrent otitis media, Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic sinusitis OMIM:615294
Severe Combined Immunodeficiency, X-Linked
Chronic oral candidiasis, Hepatomegaly, Skin rash, Failure to thrive, Recurrent pneumonia, Pneumonia OMIM:300400
Dietary Iron Overload Disease
Congestive heart failure, Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, H... ORPHA:139507
Ichthyosis Prematurity Syndrome
Erythroderma, Pruritus, Allergic rhinitis OMIM:608649
Ichthyosis, Congenital, Autosomal Recessive 10
Erythroderma OMIM:615024
Ciliary Dyskinesia, Primary, 42
Bronchiectasis, Pneumonia, Recurrent sinusitis, Chronic rhinitis OMIM:618695
Q Fever
Myocarditis, Abnormal pulmonary interstitial morphology, Abnormal left ventricular function, Elev... ORPHA:781
Isolated Agammaglobulinemia
Pneumonia, Inflammatory abnormality of the eye, Arthritis, Skin rash, Sinusitis, Failure to thriv... ORPHA:229717
Bare Lymphocyte Syndrome, Type Ii
Cholangitis, Recurrent lower respiratory tract infections, Chronic mucocutaneous candidiasis, Vir... OMIM:209920
Genitopalatocardiac Syndrome
Transposition of the great arteries, Hypospadias, Renal cyst, Double outlet right ventricle, Vent... OMIM:231060
Epidermolytic Hyperkeratosis 2A, Autosomal Dominant
Erythroderma OMIM:620150
Ciliary Dyskinesia, Primary, 41
Recurrent sinusitis, Recurrent otitis media, Bronchiectasis OMIM:618449
Copper Deficiency, Familial Benign
Seborrheic dermatitis, Failure to thrive OMIM:121270
Ichthyosis With Confetti
Erythroderma, Decreased body weight, Pruritus OMIM:609165
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Combined Immunodeficiency, X-Linked
Sinusitis, Recurrent bronchitis, Pneumonia, Otitis media OMIM:312863
Candidiasis, Familial, 8
Blepharitis, Chronic oral candidiasis, Cheilitis, Seborrheic dermatitis OMIM:615527
Microlissencephaly
Pneumonia ORPHA:1083
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Jaundice, Elevated circulating hepatic transaminase concentration, C... ORPHA:2137
Bardet-Biedl Syndrome 16
Renal cyst, Renal agenesis, Renal dysplasia, Stage 5 chronic kidney disease, Renal insufficiency OMIM:615993
Caspase 8 Deficiency
Eczematoid dermatitis, Failure to thrive, Splenomegaly, Recurrent sinopulmonary infections, Pneum... OMIM:607271
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Gastritis, Elevated circulating hepatic transaminase concentration, Recurrent respiratory infecti... ORPHA:37042
Microsporidiosis
Bronchitis, Cachexia, Sinusitis, Biliary tract abnormality, Myocarditis, Cholangitis, Thyroiditis... ORPHA:2552
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Bronchitis, Skin rash, Psoriasiform dermatitis, Cholecystitis, Allergic rhinitis, Cholangitis, Ch... ORPHA:183675
Ciliary Dyskinesia, Primary, 46
Recurrent sinusitis, Recurrent pneumonia, Recurrent otitis media, Bronchiectasis OMIM:619436
Omenn Syndrome
Hepatomegaly, Thyroiditis, Erythroderma, Failure to thrive, Splenomegaly, Pneumonia, Pruritus ORPHA:39041
Legionnaires Disease
Myocarditis, Jaundice, Pancreatitis, Recurrent pharyngitis, Hypotension, Pericarditis, Abnormal l... ORPHA:549
Hepatitis, Fulminant Viral, Susceptibility To
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Fulminant hepati... OMIM:618549
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Elevated circulating hepatic transaminase concentration, Jaundice, Hepatome... ORPHA:79303
Epidermodysplasia Verruciformis
Seborrheic dermatitis, Pustule, Telangiectasia of the skin, Recurrent skin infections ORPHA:302
Ciliary Dyskinesia, Primary, 39
Bronchiectasis, Recurrent otitis media, Recurrent lower respiratory tract infections OMIM:618254
Sudden Cardiac Failure, Infantile
Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Sudden cardiac d... OMIM:617222
Congenital Disorder Of Glycosylation, Type Iih
Failure to thrive in infancy, Interface hepatitis, Elevated serum transaminases during infections... OMIM:611182
Erythema Nodosum, Familial
Erythema nodosum OMIM:132990
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Elevated circulating hepatic transaminase concentration, Panacinar emphysema, Hepatoce... OMIM:613490
Aspergillosis
Hypersensitivity pneumonitis, Pleuritis, Pleural effusion, Bronchiectasis, Sinusitis, Osteomyelit... ORPHA:1163
Congenital Muscular Dystrophy Due To Lmna Mutation
Congestive heart failure, Cachexia, Arrhythmia ORPHA:157973
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Glomerulonephritis OMIM:247800
Activated Pi3K-Delta Syndrome
Recurrent otitis media, Hepatomegaly, Arthritis, Bronchiectasis, Failure to thrive, Recurrent upp... ORPHA:397596
Hepatorenocardiac Degenerative Fibrosis
Enlarged kidney, Tubular luminal dilatation, Renal interstitial fibrosis, Renal cyst, Hypertrophi... OMIM:619902
Bronchiolitis Obliterans
Bronchiectasis, Pneumonia, Respiratory tract infection, Bronchiolitis obliterans ORPHA:1303
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Ciliary Dyskinesia, Primary, 36, X-Linked
Chronic otitis media, Recurrent respiratory infections, Recurrent sinusitis, Bronchiectasis OMIM:300991
Ciliary Dyskinesia, Primary, 23
Recurrent otitis media, Chronic rhinitis, Recurrent sinusitis, Recurrent pneumonia, Bronchiectasi... OMIM:615451
Pfapa Syndrome
Hepatomegaly, Recurrent pharyngitis, Arthritis, Splenomegaly, Weight loss, Infectious encephalitis ORPHA:42642
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Polyarteritis Nodosa
Pleuritis, Hypertension, Cardiomyopathy, Pericarditis, Abnormal lung morphology, Raynaud phenomen... ORPHA:767
Whipple Disease
Myocarditis, Gastrointestinal hemorrhage, Myocardial infarction, Hepatomegaly, Pleuritis, Myositi... ORPHA:3452
Generalized Pustular Psoriasis
Congestive heart failure, Cheilitis, Elevated circulating hepatic transaminase concentration, Art... ORPHA:247353
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Emphysema, Weight loss, Pulmonary arterial hypertension ORPHA:1164
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Erysi... OMIM:214900
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Arthritis, Eczematoid dermatitis, Failure to thrive, Erythroderma, Hepatitis, Glomerulonephritis OMIM:304790
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Bronchiectasis, Recurrent bronchiolitis, Abnormality of exocrine pancreas physiology, Chronic bro... OMIM:613021
Felty Syndrome
Chronic otitis media, Hepatomegaly, Recurrent pharyngitis, Pleuritis, Arthritis, Synovitis, Sinus... ORPHA:47612
Rat-Bite Fever
Morbilliform rash, Myocarditis, Pancreatitis, Arthritis, Skin rash, Parotitis, Lymphadenitis, Per... ORPHA:31205
Alopecia-Intellectual Disability Syndrome 4
Erythroderma OMIM:618840
Systemic Capillary Leak Syndrome
Myocarditis, Pulmonary edema, Pancreatitis, Pleural effusion, Hypotension, Pericarditis, Weight l... ORPHA:188
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Failure to thrive, Weight loss OMIM:612075
Reticular Dysgenesis
Chronic otitis media, Skin rash, Failure to thrive, Weight loss, Recurrent respiratory infections ORPHA:33355
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Cachexia, Slender build, Weight loss OMIM:613662
Campomelia, Cumming Type
Polycystic kidney dysplasia, Pancreatic cysts OMIM:211890
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Gastritis, Skin rash, Inflammation of the large intestine, Failure to thrive, B... OMIM:618108
Quinquaud Folliculitis Decalvans
Recurrent skin infections, Pustule ORPHA:346
Odontomatosis-Aortae Esophagus Stenosis Syndrome
Myocarditis, Hepatic failure ORPHA:2724
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Cirrhosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Conjunctiv... OMIM:242150
Ciliary Dyskinesia, Primary, 27
Recurrent otitis media, Rhinitis, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory infe... OMIM:615504
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Elevated gam... OMIM:614480
Hydroa Vacciniforme
Malar rash, Superficial dermal perivascular inflammatory infiltrate, Eczematoid dermatitis, Papul... ORPHA:330058
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Polycystic kidney dysplasia, Pericardial effusion, Splenomegaly, Atrial septal defect OMIM:608776
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Pyoderma, Crohn's disease, Folliculitis, Enterocolitis, Hematochezia, Colitis OMIM:613148
Peeling Skin Syndrome 1
Erythroderma, Pruritus OMIM:270300
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Chronic oral candidiasis, Recurrent otitis media, Chronic mucocutaneous candidiasis, Atopic derma... OMIM:618282
Moynahan Syndrome
Cachexia ORPHA:2574
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Arthritis, Skin rash, Pleural effusion, Pericarditis, Splenomegaly, Anterior uveiti... ORPHA:85414
Immunodeficiency 75 With Lymphoproliferation
Bronchiectasis, Recurrent respiratory infections, Hepatosplenomegaly OMIM:619126
Gillessen-Kaesbach-Nishimura Syndrome
Polycystic kidney dysplasia, Abnormal heart morphology OMIM:263210
Combined Immunodeficiency Due To Dock8 Deficiency
Chronic otitis media, Recurrent bacterial skin infections, Atopic dermatitis, Recurrent sinusitis... ORPHA:217390
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia, Recurrent respiratory infections ORPHA:1389
Scedosporiosis
Unusual skin infection, Pleuritis, Bronchitis, Pleural empyema, Sinusitis, Pericarditis, Arthralg... ORPHA:449280
Bacterial Toxic-Shock Syndrome
Myocarditis, Tachycardia, Capillary leak, Arthritis, Skin rash, Myositis, Hypotension, Hepatitis,... ORPHA:36234
Seborrhea-Like Dermatitis With Psoriasiform Elements
Seborrheic dermatitis OMIM:610227
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Chronic otitis media, Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:619466
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Recurrent respiratory infections, Pulmonic stenosis, Eosinophilic infiltration of the esophagus, ... OMIM:615508
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal tubular epithelial necrosis, Dicarboxylic aciduria, Hepatomegaly, Myoglobinuria, Polycystic... ORPHA:228308
C1Q Deficiency 2
Recurrent otitis media, Atelectasis, Recurrent lower respiratory tract infections, Malar rash, Ar... OMIM:620321
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Hypersensitivity pneumonitis, Emphysema, Honeycomb lung, Respiratory tract infection, Weight loss... ORPHA:79127
Lymphatic Malformation 3
Recurrent skin infections OMIM:613480
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent sinusitis, Recurrent pneumonia, Recurrent otitis media, Bronchiectasis OMIM:620032
Ciliary Dyskinesia, Primary, 3
Recurrent sinusitis, Recurrent respiratory infections, Recurrent otitis media, Bronchiectasis OMIM:608644
Systemic Lupus Erythematosus
Pleuritis, Malar rash, Arthritis, Pericarditis, Nephritis, Lupus nephritis OMIM:152700
Focal Myositis
Myositis, Weight loss ORPHA:48918
Ige Responsiveness, Atopic
Allergic rhinitis, Eczematoid dermatitis OMIM:147050
Immunodeficiency, Common Variable, 1
Recurrent otitis media, Hepatomegaly, Recurrent bronchitis, Bronchiectasis, Recurrent pneumonia, ... OMIM:607594
Trichohepatoenteric Syndrome 2
Cirrhosis, Hepatomegaly, Chronic hepatitis, Failure to thrive, Small for gestational age, Colitis OMIM:614602
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinusitis, Recurrent pneumonia, Recurrent sinopulmonary infections, Atrophic gastritis,... OMIM:616576
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy, Abnormal renal physiology, Nephropathy ORPHA:85447
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Congestive heart failure, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... OMIM:615895
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... ORPHA:42
Femoral-Facial Syndrome
Polycystic kidney dysplasia, Abnormal localization of kidney, Renal hypoplasia/aplasia, Long penis ORPHA:1988
Trisomy 17P
Hypoplasia of penis, Polycystic kidney dysplasia, Aortic valve stenosis, Urethral valve, Hydronep... ORPHA:261290
Complement Component 5 Deficiency
Generalized seborrheic dermatitis OMIM:609536
Distal Triplication 15Q
Abnormality of the kidney, Polycystic kidney dysplasia, Hydronephrosis, Abnormal heart morphology... ORPHA:314588
Peroxisome Biogenesis Disorder 6A (Zellweger)
Hepatomegaly, Renal cyst OMIM:614870
Dermatitis, Atopic
Atopic dermatitis, Eczematoid dermatitis, Pruritus, Conjunctivitis, Recurrent skin infections, Al... OMIM:603165
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Hypospadias, Hypertrophic cardiomyopathy, Cardiomegaly,... OMIM:620135
Sézary Syndrome
Hepatomegaly, Splenomegaly, Abnormal pleura morphology, Erythroderma, Pruritus ORPHA:3162
Rigid Spine Syndrome
Pneumonia, Cardiac conduction abnormality ORPHA:97244
Inflammatory Bowel Disease (Crohn Disease) 1
Recurrent aphthous stomatitis, Crohn's disease, Inflammation of the large intestine, Weight loss,... OMIM:266600
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Chronic oral candidiasis, Recurrent respiratory infections, Pulmonary interstitial lymphocyte inf... OMIM:606367
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Pulmonary insufficiency, Recurrent otitis media, Sinusitis, Failure to thrive, Recurrent pneumoni... ORPHA:277
Lamellar Ichthyosis
Chronic otitis media, Recurrent respiratory infections, Erythroderma, Pruritus ORPHA:313
Inflammatory Bowel Disease 11
Inflammation of the large intestine, Hematochezia, Weight loss OMIM:191390
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Pulmonary pneumatocele, Disseminated molluscum contagiosum, Recurrent otitis media, Sclerosing ch... OMIM:243700
Gallbladder Disease 1
Jaundice, Elevated circulating hepatic transaminase concentration, Cholangitis, Cholelithiasis, P... OMIM:600803
Immunodeficiency 116
Bronchiectasis, Recurrent respiratory infections OMIM:608957
Chilblain Lupus
Malar rash, Skin rash, Discoid lupus rash, Inflammatory abnormality of the skin, Raynaud phenomen... ORPHA:90280
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Recurrent otitis media, Atopic dermatitis, Recurrent upper respiratory tract infections, Recurren... OMIM:618944
Gilbert Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatic failure OMIM:143500
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Bronchiectasis, Abnormality of exocrine pancreas physiology, Chronic bronchitis OMIM:211400
Pleural Mesothelioma
Hepatomegaly, Abnormal cardiovascular system physiology, Pleural effusion, Abnormal lung morpholo... ORPHA:50251
Harlequin Ichthyosis
Erythroderma, Recurrent respiratory infections, Sudden cardiac death ORPHA:457
Antisynthetase Syndrome
Myocarditis, Abnormal pulmonary interstitial morphology, Aortic regurgitation, Myositis, Arthriti... ORPHA:81
Malignant Atrophic Papulosis
Pleural effusion, Gastrointestinal hemorrhage, Constrictive pericarditis OMIM:602248
Immunodeficiency With Hyper-Igm, Type 1
Chronic oral candidiasis, Cirrhosis, Hepatomegaly, Recurrent lower respiratory tract infections, ... OMIM:308230
Familial Hemophagocytic Lymphohistiocytosis
Decreased liver function, Cholestatic liver disease, Jaundice, Elevated circulating hepatic trans... ORPHA:540
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hepatomegaly, Elevated total serum tryptase, Hypotension, Abnormalit... ORPHA:79456
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Immunodeficiency 27A
Salmonella osteomyelitis, Hepatosplenomegaly, Splenomegaly, Weight loss, Pneumonia, Increased inf... OMIM:209950
Immunodeficiency 66
Recurrent skin infections, Pustule OMIM:618847
Pemphigus Foliaceus
Pustule, Erythroderma, Psoriasiform dermatitis, Crusting erythematous dermatitis, Pruritus ORPHA:79481
Pressure-Induced Localized Lipoatrophy
Inflammatory abnormality of the skin ORPHA:90160
Netherton Syndrome
Emphysema, Skin rash, Eczematoid dermatitis, Erythroderma, Recurrent respiratory infections ORPHA:634
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Macrovesicular hepatic steatosis, Acute hepatic steatosis, Cholestasis, Obesity, Cholesterol gall... ORPHA:209902
Renal-Hepatic-Pancreatic Dysplasia 1
Situs inversus totalis, Enlarged kidney, Atrial septal defect, Hepatomegaly, Polycystic kidney dy... OMIM:208540
Congenital Enterovirus Infection
Myocarditis, Skin rash, Cardiomyopathy, Hypotension, Pleural effusion, Cholestasis, Hepatitis, In... ORPHA:292
Primary Sclerosing Cholangitis
Elevated circulating hepatic transaminase concentration, Neoplasm of the gallbladder, Spider hema... ORPHA:171
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Hepa... OMIM:301045
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Cholestasis, Elevated circulating alanine aminotransferase concentration, Hepatic bridg... OMIM:619658
Ichthyosis, Hystrix-Like, With Deafness
Erythroderma, Punctate keratitis OMIM:602540
Mantle Cell Lymphoma
Splenomegaly, Weight loss ORPHA:52416
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Cholestatic liver disease, Jaundice, Giant cell hepatitis, Elevated circulating hepatic transamin... OMIM:613404
Desmoplastic Small Round Cell Tumor
Hepatomegaly, Neoplasm of the pancreas, Abnormal peritoneum morphology, Cachexia, Neoplasm of the... ORPHA:83469
Loeffler Endocarditis
Congestive heart failure, Aortic regurgitation, Palpitations, Restrictive cardiomyopathy, Right b... ORPHA:75566
Bullous Impetigo
Septic arthritis, Pustule, Recurrent bacterial skin infections ORPHA:36237
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Hepatomegaly, Generalized aminoaciduria, Renal cortical cysts, Polycystic kidn... OMIM:231680
Porphyria Cutanea Tarda, Type I
Hepatic fibrosis, Eczematoid dermatitis OMIM:176090
Carnitine Palmitoyltransferase Ii Deficiency
Renal tubular epithelial necrosis, Hepatomegaly, Myoglobinuria, Polycystic kidney dysplasia, Red-... ORPHA:157
Macrophage Activation Syndrome
Decreased liver function, Hepatomegaly, Elevated circulating alanine aminotransferase concentrati... ORPHA:158061
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Bronchiectasis, Recurrent lower respiratory tract infections, Telangiectases of the cheeks, Recur... OMIM:615139
Bare Lymphocyte Syndrome, Type I
Chronic otitis media, Emphysema, Recurrent bronchitis, Bronchiolitis, Bronchiectasis, Chronic sin... OMIM:604571
Omenn Syndrome
Hepatomegaly, Erythroderma, Failure to thrive, Splenomegaly, Pneumonia OMIM:603554
Inflammatory Skin And Bowel Disease, Neonatal, 2
Hypertension, Failure to thrive, Pustule, Recurrent pneumonia, Recurrent bronchiolitis OMIM:616069
Immunodeficiency 25
Erythroderma, Recurrent pneumonia OMIM:610163
Chronic Beryllium Disease
Hypersensitivity pneumonitis, Weight loss, Pulmonary fibrosis, Lymphocytic interstitial pneumonia... ORPHA:133
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617874
Immune-Mediated Necrotizing Myopathy
Myocarditis, Congestive heart failure, Abnormal pulmonary interstitial morphology, Myositis, Skin... ORPHA:206569
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Recurrent lower respiratory tract infections, Crohn's disease, Optic neuritis, Thyr... ORPHA:436159
Complement Factor B Deficiency
Pneumonia, Peritonitis OMIM:615561
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Hepatomegaly, Cardiomegaly, Long-chain dicarboxylic acidur... OMIM:608836
Retinal Dystrophy And Microvillus Inclusion Disease
Bronchiectasis, Recurrent lower respiratory tract infections, Recurrent upper respiratory tract i... OMIM:619446
Lichen Planopilaris
Hepatitis, Pruritus ORPHA:525
Ichthyosis With Erythrokeratoderma
Erythroderma, Pruritus OMIM:620507
T-Cell Immunodeficiency With Thymic Aplasia
Pyoderma, Emphysema, Recurrent bronchopulmonary infections, Eczematoid dermatitis, Failure to thr... OMIM:242700
Ciliary Dyskinesia, Primary, 28
Recurrent otitis media, Rhinitis, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory infe... OMIM:615505
Avian Influenza
Pneumothorax, Congestive heart failure, Elevated circulating hepatic transaminase concentration, ... ORPHA:454836
Joubert Syndrome 39
Polycystic kidney dysplasia, Hypoplastic left heart OMIM:619562
Ciliary Dyskinesia, Primary, 45
Bronchiectasis, Recurrent respiratory infections, Chronic rhinitis OMIM:618801
Crigler-Najjar Syndrome, Type I
Jaundice, Elevated circulating hepatic transaminase concentration OMIM:218800
Combined Oxidative Phosphorylation Deficiency 51
Small for gestational age, Aspiration pneumonia OMIM:619057
Sarcoidosis, Susceptibility To, 2
Pneumothorax, Abnormal pulmonary interstitial morphology, Hepatomegaly, Emphysema, Pleural effusi... OMIM:612387
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Hepatomegaly, Polycystic kidney dysplasia, Cardiomyopathy, Ethylmalonic acidur... ORPHA:26791
Polymyositis
Abnormal atrioventricular conduction, Congestive heart failure, Gastrointestinal hemorrhage, Abno... ORPHA:732
Keratolytic Winter Erythema
Pustule ORPHA:50943
Beta-Thalassemia
Hepatomegaly, Cholelithiasis, Hypertrophic cardiomyopathy, Splenomegaly, Hepatitis ORPHA:848
Alagille Syndrome 2
Hematuria, Renal tubular acidosis, Renal cyst, Pulmonic stenosis, Renal hypoplasia, Tetralogy of ... OMIM:610205
Congenital Isolated Acth Deficiency
Prolonged neonatal jaundice, Hepatitis, Hypotension ORPHA:199296
Bullous Pemphigoid
Psoriasiform dermatitis, Pruritus, Weight loss, Eczematoid dermatitis ORPHA:703
Porphyria Cutanea Tarda
Hepatic lobular inflammation, Elevated circulating hepatic transaminase concentration, Periportal... ORPHA:101330
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Recurrent otitis media, Herpes simplex encephalitis, Molluscum contagiosum, Hepatosplenomegaly, B... OMIM:618982
Neonatal Alloimmune Neutropenia
Pneumonia, Jaundice ORPHA:464370
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic tran... ORPHA:131
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Congestive heart failure, Myocardial infarction, Myositis, Vasculitis, Skin rash, Hy... ORPHA:183
Immunodeficiency 32B
Hepatomegaly, Bronchiectasis, Sinusitis, Failure to thrive, Splenomegaly, Pneumonia, Recurrent re... OMIM:226990
Alexander Disease Type I
Cachexia, Failure to thrive ORPHA:363717
Fetal Cytomegalovirus Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Retinal hemorrha... ORPHA:294
Congenital Disorder Of Glycosylation, Type It
Recurrent otitis media, Elevated circulating hepatic transaminase concentration, Intrahepatic cho... OMIM:614921
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Acute hepatitis, Failure to thrive, Hepatomegaly, Decreased liver function OMIM:238970
Immunodeficiency By Defective Expression Of Mhc Class Ii
Acute otitis media, Sclerosing cholangitis, Skin rash, Chronic mucocutaneous candidiasis, Sinusit... ORPHA:572
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent lower respiratory tract infections, Failure to thrive, Hepatosplenomegaly, Recurrent up... ORPHA:169154
Ciliary Dyskinesia, Primary, 35
Chronic otitis media, Chronic rhinitis, Recurrent pneumonia, Bronchiectasis, Abdominal situs ambi... OMIM:617092
American Trypanosomiasis
Myocarditis, Congestive heart failure, Hepatomegaly, Skin rash, Cardiomyopathy, Splenomegaly, Arr... ORPHA:3386
Mal De Meleda
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate ORPHA:87503
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Failure to thrive, Lymphocytic interstitial pneumonia OMIM:245590
Congenital Disorder Of Glycosylation, Type Iic
Pneumonia, Recurrent otitis media, Bronchiolitis, Periodontitis OMIM:266265
Tularemia
Pneumonia, Inflammatory abnormality of the eye, Tachycardia, Skin rash, Pleural effusion, Otitis ... ORPHA:3392
Galactose Epimerase Deficiency
Jaundice, Splenomegaly, Weight loss, Hepatomegaly ORPHA:79238
Ciliary Dyskinesia, Primary, 16
Chronic otitis media, Pulmonary insufficiency, Chronic rhinitis, Bronchiectasis, Chronic sinusitis OMIM:614017
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Portal hyper... OMIM:617068
Odontochondrodysplasia 1
Polycystic kidney dysplasia, Nephronophthisis OMIM:184260
Spinocerebellar Ataxia 48
Cachexia OMIM:618093
Medullary cystic kidney disease 2
Enuresis, Renal tubular atrophy, Multiple renal cysts, Renal corticomedullary cysts, Stage 5 chro... OMIM:603860
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Recurrent otitis media, Pyoderma, Prostatitis, Enteroviral hepatitis, Sinusitis, Epidi... OMIM:307200
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Pruritus, Hepatomegaly, Splenomegaly, Weight loss ORPHA:86893
Immunodeficiency 110 With Lymphoproliferation
Recurrent aphthous stomatitis, Recurrent lower respiratory tract infections, Chronic mucocutaneou... OMIM:614868
Bardet-Biedl Syndrome 4
Abnormality of the kidney, Renal cyst OMIM:615982
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis, Hypovolemic shock, Atopic dermatitis, Pustule, Recurrent upper and lower respirat... ORPHA:171876
T-Cell Immunodeficiency With Thymic Aplasia
Chronic otitis media, Chronic oral candidiasis, Thyroiditis, Eczematoid dermatitis, Sinusitis, Fa... ORPHA:83471
Immunodeficiency 40
Chronic oral candidiasis, Recurrent otitis media, Macrovesicular hepatic steatosis, Hepatomegaly,... OMIM:616433
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Weight loss ORPHA:411593
Peroxisome Biogenesis Disorder 2A (Zellweger)
Polycystic kidney dysplasia, Abnormal heart morphology, Aminoaciduria, Hepatomegaly OMIM:214110
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ventricular septal defect, Ectopic kidney, Cystic renal dysplasia, Hepatomegaly OMIM:613730
Pneumocystosis
Chronic oral candidiasis, Acute infectious pneumonia, Pleural effusion, Increased circulating lac... ORPHA:723
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Cirrhosis, Elevated circulating hepatic transaminase concentration, El... ORPHA:562639
Lymphoid Interstitial Pneumonia
Hepatomegaly, Skin rash, Multiple pulmonary cysts, Eczematoid dermatitis, Rheumatoid arthritis, F... ORPHA:79128
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Vasculitis, Skin rash, Arthritis, Palmoplantar pustulosis, Inflammation of the large intestine, P... ORPHA:324964
Bile Acid Conjugation Defect 1
Jaundice, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated cir... OMIM:619232
Ciliary Dyskinesia, Primary, 25
Recurrent otitis media, Chronic rhinitis, Recurrent pneumonia, Recurrent sinusitis, Bronchiectasi... OMIM:615482
Phoar2-Enteropathy Syndrome
Seborrheic dermatitis, Acne OMIM:614441
Panniculitis-Induced Localized Lipodystrophy
Vasculitis in the skin, Inflammatory abnormality of the skin ORPHA:90159
Wolman Disease
Cachexia, Hepatomegaly, Splenomegaly, Hepatic failure ORPHA:75233
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Bilia... ORPHA:79301
Chronic Mucocutaneous Candidiasis
Cheilitis, Skin rash, Recurrent respiratory infections, Hepatitis, Pruritus ORPHA:1334
Cortisone Reductase Deficiency 1
Obesity, Acne OMIM:604931
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Ciliary Dyskinesia, Primary, 17
Recurrent otitis media, Chronic rhinitis, Bronchiectasis, Recurrent respiratory infections, Chron... OMIM:614679
Riboflavin Transporter Deficiency
Cachexia, Hypertension ORPHA:97229
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cirrhosis, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic steato... ORPHA:298
Elastoderma
Erysipelas, Eczematoid dermatitis ORPHA:228240
Branchiootorenal Syndrome 1
Renal steatosis, Abnormal renal collecting system morphology, Unilateral renal agenesis, Polycyst... OMIM:113650
Fanconi Anemia, Complementation Group O
Stage 5 chronic kidney disease, Hydronephrosis, Abnormal heart morphology, Renal cyst OMIM:613390
Classic Hodgkin Lymphoma
Hepatomegaly, Skin rash, Splenomegaly, Weight loss, Pruritus ORPHA:391
Ciliary Dyskinesia, Primary, 43
Abdominal situs inversus, Recurrent lower respiratory tract infections, Chronic rhinitis, Recurre... OMIM:618699
Ciliary Dyskinesia, Primary, 11
Chronic rhinitis, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory infections, Chronic ... OMIM:612649
Zygomycosis
Hematemesis, Gastrointestinal hemorrhage, Acute infectious pneumonia, Sinusitis, Pericarditis, Pu... ORPHA:73263
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Polycystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ab... ORPHA:2237
Familial Nasal Acilia
Atelectasis, Chronic rhinitis, Recurrent upper respiratory tract infections, Bronchiectasis, Chro... ORPHA:922
Erythrokeratodermia Variabilis Et Progressiva 6
Superficial dermal perivascular inflammatory infiltrate, Pruritus, Arrhythmia OMIM:618531
Interstitial Lung Disease 1
Intralobular septal thickening, Nonspecific interstitial pneumonia, Elevated bronchoalveolar lava... OMIM:619611
Infant Acute Respiratory Distress Syndrome
Pulmonary edema, Atelectasis, Tachycardia, Bradycardia, Cardiac arrest, Hypotension, Respiratory ... ORPHA:70587
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst OMIM:174050
Mcdonough Syndrome
Cachexia ORPHA:2471
Idiopathic Hypereosinophilic Syndrome
Elevated circulating hepatic transaminase concentration, Portal fibrosis, Splenomegaly, Cholangit... ORPHA:3260
Inflammatory Bowel Disease 25, Autosomal Recessive
Perianal abscess, Pancolitis, Recurrent bronchitis, Folliculitis, Enterocolitis OMIM:612567
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Immunodeficiency 77
Bronchiectasis, Cutaneous abscess OMIM:619223
Ciliary Dyskinesia, Primary, 24
Recurrent sinusitis, Recurrent otitis media, Chronic rhinitis, Bronchiectasis OMIM:615481
Ichthyosis, Congenital, Autosomal Recessive 9
Erythroderma OMIM:615023
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... OMIM:208085
Peripartum Cardiomyopathy
Myocarditis, Congestive heart failure, Left ventricular systolic dysfunction, Left bundle branch ... ORPHA:563
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Elevated alkaline phosphatase of bone origin, Cirrhosis, Elevated circ... OMIM:616828
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hepatomegaly,... OMIM:616278
Amoebiasis Due To Entamoeba Histolytica
Lung abscess, Congestive heart failure, Liver abscess, Elevated circulating hepatic transaminase ... ORPHA:67
Ichthyosis, Congenital, Autosomal Recessive 5
Erythroderma OMIM:604777
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Jaundice, Hepatomegaly, Skin rash, Failure to thrive, Exocrine pancreatic insufficiency, Splenome... OMIM:612714
Ichthyosis, Congenital, Autosomal Recessive 1
Erythroderma OMIM:242300
Spinocerebellar Ataxia 34
Erythroderma OMIM:133190
Isolated Polycystic Liver Disease
Hepatomegaly, Multiple renal cysts ORPHA:2924
Microscopic Polyangiitis
Congestive heart failure, Gastrointestinal hemorrhage, Pancreatitis, Vasculitis, Skin rash, Arthr... ORPHA:727
Nphp3-Related Meckel-Like Syndrome
Renal dysplasia, Multicystic kidney dysplasia ORPHA:3032
Rheumatic Fever
Myocarditis, Recurrent pharyngitis, Arthritis, Sinusitis, Pericarditis, Epistaxis, Abnormal pleur... ORPHA:3099
Congenital Disorder Of Glycosylation, Type If
Erythroderma, Failure to thrive OMIM:609180
Inflammatory Pseudotumor Of The Liver
Cirrhosis, Elevated circulating alanine aminotransferase concentration, Abnormal liver sonography... ORPHA:90003
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Recurrent respiratory infections, Atelectasis OMIM:615872
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Hepatomegaly, Vasculitis, Arthritis, Viral hepatitis, Splenomegaly, ... ORPHA:91138
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Recurrent otitis media, Eczematoid dermatitis, Keratitis, Bronchiectasis, Recurrent respiratory i... OMIM:618523
Combined Immunodeficiency Due To Zap70 Deficiency