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 embryo size Arih2tm1.1(KOMP)Vlcg HOM E9.5 0.00
abnormal embryo size Arih2tm1.1(KOMP)Vlcg HET E9.5 0.00
abnormal urinary bladder morphology Arih2tm1.1(KOMP)Vlcg HET Early adult 0.00
abnormal heart morphology Arih2tm1.1(KOMP)Vlcg HET Early adult 0.00
embryonic growth retardation Arih2tm1.1(KOMP)Vlcg HET E9.5 0.00
embryonic growth retardation Arih2tm1.1(KOMP)Vlcg HOM E9.5 0.00
enlarged heart Arih2tm1.1(KOMP)Vlcg HET Early adult 0.00
cystolithiasis Arih2tm1.1(KOMP)Vlcg HET Early adult 0.00
abnormal kidney morphology Arih2tm1.1(KOMP)Vlcg HET Early adult 0.00
polycystic kidney Arih2tm1.1(KOMP)Vlcg HET Early adult 0.00
abnormal skin morphology Arih2tm1.1(KOMP)Vlcg HET Early adult 0.00
preweaning lethality, complete penetrance Arih2tm1.1(KOMP)Vlcg HOM   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 0.69% (4 of 577)
aorta 0.17% (1 of 582)
blood 0.0%
bone marrow 0.0%
brain 0.86% (5 of 583)
brainstem 0.35% (2 of 578)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 581)
cecum 5.71% (21 of 368)
cerebellum 0.52% (3 of 582)
cerebral cortex 0.34% (2 of 581)
chest bone Unavailable
colon 16.06% (22 of 137)
diaphragm 0.0%
duodenum 3.73% (5 of 134)
epididymis 13.89% (20 of 144)
esophagus 1.73% (7 of 404)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.71% (1 of 140)
heart 0.34% (2 of 581)
hindlimb 0.0%
hippocampus 0.34% (2 of 585)
hypothalamus 0.34% (2 of 583)
ileum 13.77% (19 of 138)
jejunum 8.89% (12 of 135)
kidney 4.45% (26 of 584)
large intestine 5.34% (31 of 581)
liver 0.0%
lower urinary tract 0.17% (1 of 579)
lung 0.35% (2 of 573)
lymph node 0.18% (1 of 570)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.35% (2 of 574)
ovary 0.17% (1 of 577)
oviduct 0.0%
pancreas 0.86% (5 of 581)
parathyroid gland 0.18% (1 of 561)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.35% (2 of 579)
peyers patch 0.0%
pituitary gland 0.17% (1 of 572)
prostate gland 2.08% (12 of 577)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 580)
small intestine 5.51% (32 of 581)
spinal cord 0.35% (2 of 578)
spleen 0.52% (3 of 580)
stomach 3.79% (22 of 580)
stomach pyloric region 0.0%
striatum 0.52% (3 of 578)
sublingual gland 0.0%
submandibular gland 1.43% (2 of 140)
testis 0.86% (5 of 581)
thymus 0.17% (1 of 579)
thyroid gland 2.94% (17 of 579)
tongue 3.65% (5 of 137)
trachea 0.52% (3 of 579)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.35% (2 of 579)
vagina 0.0%
vas deferens 4.68% (18 of 385)
vascular system 0.0%
vesicular gland 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)
axial skeleton 1.56% (1 of 64)
brain 1.18% (6 of 510)
central nervous system ganglion 1.37% (1 of 73)
ear 0.2% (1 of 510)
embryo 0.39% (2 of 511)
eye 0.2% (1 of 510)
footplate 0.2% (1 of 510)
forebrain 0.2% (1 of 510)
forelimb 0.2% (1 of 510)
gut 1.69% (1 of 59)
handplate 0.2% (1 of 510)
head 0.98% (5 of 510)
heart 0.2% (1 of 510)
hindbrain 1.18% (6 of 510)
hindlimb 0.2% (1 of 510)
liver 0.2% (1 of 505)
lung 0.2% (1 of 505)
mandibular process 0.2% (1 of 510)
maxillary process 0.2% (1 of 510)
midbrain 0.2% (1 of 510)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 505)
placenta 16.67% (7 of 42)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 510)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 510)
tail somite group 0.2% (1 of 510)
trachea 1.69% (1 of 59)
urinary system 1.69% (1 of 59)

Associated Images

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

Adult LacZ

LacZ Images Section

194 Images

OPT E9.5

Embryo reconstruction

8 Images

Embryo LacZ

LacZ images wholemount

31 Images

X-ray

XRay Images Whole Body Dorso Ventral

8 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 furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio... OMIM:613953
Acne Inversa, Familial, 3
Perifolliculitis, Acne inversa, Chronic furunculosis, Recurrent cutaneous abscess formation OMIM:613737
Polycystic Kidney Disease 5
Polycystic kidney dysplasia, Hyperechogenic kidneys, Stage 5 chronic kidney disease OMIM:617610
Immunodeficiency 11
Recurrent respiratory infections, Pneumonia OMIM:615206
Idiopathic Bronchiectasis
Reduced FEV1/FVC ratio, Cachexia, Crackles, Acute infectious pneumonia, Wheezing, Recurrent lower... ORPHA:60033
Pulmonary Blastoma
Pleuropulmonary blastoma, Cough, Recurrent pneumonia, Dyspnea, Weight loss ORPHA:64741
Nephronophthisis 14
Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Acne Inversa, Familial, 1
Acne inversa OMIM:142690
Nephronophthisis 16
Aortic valve stenosis, Nephronophthisis, Pulmonic stenosis, Enlarged kidney, Situs inversus total... OMIM:615382
Complement Component C1S Deficiency
Hepatitis, Hashimoto thyroiditis OMIM:613783
Immunodeficiency 104
Hepatomegaly, Otitis media, Splenomegaly, Eczema, Chronic mucocutaneous candidiasis, Pneumonia, R... OMIM:608971
Halothane Hepatitis
Obesity, Hepatitis, Viral hepatitis, Jaundice OMIM:234350
Hepatocellular Carcinoma
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis OMIM:114550
Cirrhosis, Familial
Cirrhosis, Hepatitis, Chronic active hepatitis OMIM:118900
Complement Component 4B Deficiency
Asthma, Chronic active hepatitis, Recurrent sinusitis, Recurrent pneumonia, Recurrent otitis media OMIM:614379
Cyanosis And Hepatic Disease
Dyspnea, Hepatitis OMIM:219400
Mannose-Binding Lectin Deficiency
Failure to thrive, Recurrent skin infections OMIM:614372
Idiopathic Achalasia
Wheezing, Cough, Recurrent aspiration pneumonia, Bronchitis, Weight loss ORPHA:930
Immunodeficiency 48
Failure to thrive, Eczematoid dermatitis, Hepatomegaly, Splenomegaly, Pneumonia, Recurrent respir... OMIM:269840
Glycine N-Methyltransferase Deficiency
Elevated hepatic transaminase, Hepatomegaly OMIM:606664
Multicentric Reticulohistiocytosis
Cachexia, Arthritis ORPHA:139436
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Skin rash ORPHA:157997
Erythroderma, Lethal Congenital
Failure to thrive, Congenital exfoliative erythroderma OMIM:227090
Dissecting Cellulitis Of The Scalp
Pruritus, Recurrent skin infections ORPHA:345
Lymphoproliferative Syndrome, X-Linked, 2
Colitis, Hepatomegaly, Folliculitis, Recurrent skin infections, Splenomegaly, Inflammation of the... OMIM:300635
Immunodeficiency 11B With Atopic Dermatitis
Asthma, Atopic dermatitis, Pneumonia OMIM:617638
Intellectual Developmental Disorder, Fra12A Type
Recurrent lower respiratory tract infections, Erythroderma OMIM:136630
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Hepatic failure, Hepatitis, Emphysema, Jaundice ORPHA:60
Kerion Celsi
Inflammatory abnormality of the skin, Recurrent cutaneous abscess formation, Recurrent skin infec... ORPHA:499
Drug Reaction With Eosinophilia And Systemic Symptoms
Pustule, Skin rash, Acute hepatic failure, Interstitial pneumonitis, Myocarditis, Cough, Elevated... ORPHA:139402
Ethanolaminosis
Cardiomegaly OMIM:227150
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Ciliary Dyskinesia, Primary, 44
Reduced forced expiratory volume in one second, Otitis media, Reduced forced vital capacity, Recu... OMIM:618781
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Vesicourete... OMIM:601331
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Recurrent upper respiratory tract infections, Atopic dermatitis, Pneumonia OMIM:618806
Familial Reactive Perforating Collagenosis
Inflammatory abnormality of the skin, Perifolliculitis, Maculopapular exanthema, Crusting erythem... ORPHA:79147
Chronic Actinic Dermatitis
Eczema, Allergic rhinitis, Late onset atopic dermatitis, Pruritus, Erythroderma ORPHA:330064
Nephronophthisis 20
Renal cyst, Renal insufficiency, Nephronophthisis, Stage 5 chronic kidney disease OMIM:617271
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Aspiration pneumonia, Upper airway obstruction, Dyspnea, Weight loss ORPHA:141152
Immunodeficiency 56
Failure to thrive, Chronic hepatitis due to cryptosporidium infection, Hepatic failure, Cirrhosis... OMIM:615207
Bile Acid Synthesis Defect, Congenital, 3
Failure to thrive, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Hepatic... OMIM:613812
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Failure to thrive in infancy, Skin rash, Splenomegaly OMIM:619175
Erythroderma Desquamativum
Failure to thrive, Seborrheic dermatitis ORPHA:314
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Splenomegaly, Respiratory tract infection, Recurrent otitis media ORPHA:444463
Immunodeficiency 32B
Sinusitis, Splenomegaly, Pneumonia, Bronchiectasis, Recurrent respiratory infections OMIM:226990
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Otitis media, Hepatosplenomegaly, Hepatitis, Recurrent pneumonia, Pneum... ORPHA:169160
Autosomal Agammaglobulinemia
Failure to thrive, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Chronic otitis... ORPHA:33110
Bile Acid Synthesis Defect, Congenital, 4
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hepatic failure, Elevated hepatic transami... OMIM:214950
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia, Hepatomegaly OMIM:614859
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Combined Immunodeficiency, X-Linked
Sinusitis, Recurrent bronchitis, Pneumonia, Otitis media OMIM:312863
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Mitral valve prolapse, Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts OMIM:173900
Ciliary Dyskinesia, Primary, 9
Bronchiectasis, Chronic otitis media, Cough, Chronic rhinitis, Recurrent sinusitis, Chronic sinus... OMIM:612444
Bullous Diffuse Cutaneous Mastocytosis
Cardiorespiratory arrest, Erythroderma, Pruritus ORPHA:280785
Verrucous Hemangioma
Inflammatory abnormality of the skin ORPHA:464318
Melioidosis
Splenic abscess, Unusual skin infection, Prostatitis, Osteoarthritis, Abnormality of the spleen, ... ORPHA:31202
Bardet-Biedl Syndrome 10
Abnormality of the kidney, Renal cyst, Renal insufficiency OMIM:615987
Congenital Lethal Erythroderma
Failure to thrive, Respiratory insufficiency, Congenital exfoliative erythroderma ORPHA:1954
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive, Otitis media, Purulent rhinitis, Arthritis, Pneumonia, Failure to thrive secon... OMIM:601457
Mulibrey Nanism
Cachexia, Hepatomegaly ORPHA:2576
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Reduced forced expiratory volume in one second, Bronchiectasis, Reduced FEV1/FVC ratio, Airway ob... ORPHA:1303
Wilson Disease
Failure to thrive, Hepatomegaly, Acute hepatitis, Splenomegaly, Acute hepatic failure, Cirrhosis,... ORPHA:905
Pityriasis Rubra Pilaris
Erythroderma, Eczema, Pustule, Pruritus ORPHA:2897
Indomethacin Embryofetopathy
Atrial septal defect, Abnormal renal tubule morphology, Multicystic kidney dysplasia, Nephropathy... ORPHA:1909
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Horseshoe kidney, Hydronephrosis, ... OMIM:617805
Young Syndrome
Bronchiectasis, Recurrent bronchitis, Congenital pulmonary airway malformation, Recurrent sinopul... OMIM:279000
Autosomal Dominant Epidermolytic Ichthyosis
Erythroderma, Weight loss ORPHA:312
Paget Disease, Extramammary
Eczematoid dermatitis OMIM:167300
Immunodeficiency 15A
Acne inversa, Recurrent sinusitis, Chronic mucocutaneous candidiasis, Recurrent otitis media, Cut... OMIM:618204
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Recurrent bronchitis, Nephritis, Arthritis OMIM:216950
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Respiratory insufficiency, Reduced forced vital capacity, Chronic ... OMIM:618695
Majeed Syndrome
Failure to thrive, Osteomyelitis, Inflammatory abnormality of the skin, Pustule, Hepatomegaly, Sp... ORPHA:77297
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Bronchiectasis, Chronic bronchitis OMIM:613071
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Bronchiectasis, Chronic bronchitis OMIM:613021
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Bronchiectasis, Chronic bronchitis OMIM:211400
Adult-Onset Still Disease
Hepatomegaly, Skin rash, Splenomegaly, Myocarditis, Arthritis, Pleuritis, Hepatitis, Elevated hep... ORPHA:829
Mounier-Kühn Syndrome
Bronchitis, Recurrent bronchopulmonary infections, Pneumonia, Recurrent respiratory infections ORPHA:3347
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Perifolliculitis OMIM:260910
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Recurrent urinary tract infections, Multiple renal cysts, Hepatic cysts, Situs inve... OMIM:613095
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal cyst, Vesicoureteral reflux, Ectopic kidney, Hydronephrosis OMIM:618270
X-Linked Agammaglobulinemia
Failure to thrive, Sinusitis, Osteomyelitis, Skin rash, Chronic otitis media, Arthritis, Hepatiti... ORPHA:47
Ciliary Dyskinesia, Primary, 23
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis,... OMIM:615451
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Absence of renal corticomedullary differentiation, Splenomegaly, Tubulointerstitial... OMIM:263200
Congenital Non-Bullous Ichthyosiform Erythroderma
Keratitis, Failure to thrive, Erythroderma, Pruritus ORPHA:79394
Thomas Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Hypoplastic left heart ORPHA:3316
Alpha-1-Antitrypsin Deficiency
Panacinar emphysema, Chronic pulmonary obstruction, Chronic bronchitis, Splenomegaly, Cirrhosis, ... OMIM:613490
Hanac Syndrome
Renal insufficiency, Hematuria, Multiple renal cysts ORPHA:73229
Immunodeficiency 58
Asthma, Failure to thrive, Colitis, Chronic pulmonary obstruction, Chronic bronchitis, Eczema, Re... OMIM:618131
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Tuberculosis
Abnormal lung morphology, Weight loss, Cough ORPHA:3389
Ichthyosis, Congenital, Autosomal Recessive 7
Erythroderma OMIM:615022
Ichthyosis Prematurity Syndrome
Asthma, Allergic rhinitis, Pruritus, Erythroderma, Neonatal asphyxia OMIM:608649
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Recurrent skin infections, Eczema, Atopic dermatitis, Chronic mucocutaneous candidiasis, Pruritus... OMIM:618282
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent sinusiti... OMIM:619436
Cholesterol Pneumonia
Pneumonia, Cough, Tachypnea OMIM:215030
Ciliary Dyskinesia, Primary, 21
Bronchiectasis, Ciliary dyskinesia, Chronic sinusitis, Recurrent pneumonia, Recurrent otitis medi... OMIM:615294
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Chronic bronchitis, Hypoxemia, Nonproducti... ORPHA:79127
Congenital Megacalycosis
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... ORPHA:93109
Hyperparathyroidism 2 With Jaw Tumors
Nephrolithiasis, Nephroblastoma, Renal cortical adenoma, Papillary renal cell carcinoma, Polycyst... OMIM:145001
Ciliary Dyskinesia, Primary, 39
Chronic lung disease, Cough, Recurrent lower respiratory tract infections, Rhinorrhea, Recurrent ... OMIM:618254
Bardet-Biedl Syndrome 16
Renal agenesis, Abnormality of the kidney, Renal dysplasia, Renal cyst, Renal insufficiency OMIM:615993
Inflammatory Skin And Bowel Disease, Neonatal, 1
Erythroderma, Blepharitis, Failure to thrive, Pustule OMIM:614328
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia, Failure to thrive OMIM:609528
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Cholelithiasis, Giant cell hepatitis, Jaundice, Pruritus OMIM:214980
Erythrokeratodermia Variabilis Et Progressiva 1
Erythroderma OMIM:133200
Yao Syndrome
Asthma, Inflammatory abnormality of the skin, Skin rash, Keratoconjunctivitis sicca, Arthritis, P... OMIM:617321
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hepatic cysts OMIM:600666
Mucus Inspissation Of Respiratory Tract
Bronchiectasis, Chronic sinusitis, Chronic pulmonary obstruction, Recurrent respiratory infections OMIM:253240
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Allergic Bronchopulmonary Aspergillosis
Asthma, Respiratory insufficiency, Cough, Emphysema, Bronchiectasis, Weight loss, Pulmonary arter... ORPHA:1164
Ciliary Dyskinesia, Primary, 27
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis,... OMIM:615504
Epidermolytic Hyperkeratosis
Erythroderma OMIM:113800
Ciliary Dyskinesia, Primary, 33
Cough, Chronic rhinitis, Recurrent lower respiratory tract infections, Recurrent bronchitis, Cili... OMIM:616726
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Perifolliculitis, Acne inversa, Chronic furunculosis, Recurrent cutaneous abscess formation OMIM:613736
Ciliary Dyskinesia, Primary, 3
Recurrent otitis media, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis, Neonatal respira... OMIM:608644
Congenital Disorder Of Glycosylation, Type Il
Abnormal cardiac septum morphology, Hepatomegaly, Hepatosplenomegaly, Polycystic kidney dysplasia... OMIM:608776
Agammaglobulinemia 9, Autosomal Recessive
Failure to thrive, Eczematoid dermatitis, Seborrheic dermatitis OMIM:619693
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia, Respiratory insufficiency, Arrhythmia, Congestive heart failure ORPHA:157973
Bile Acid Synthesis Defect, Congenital, 1
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, ... OMIM:607765
Tracheobronchomegaly
Bronchiectasis, Recurrent bronchopulmonary infections OMIM:275300
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Ige Responsiveness, Atopic
Asthma, Eczema, Allergic rhinitis OMIM:147050
Ciliary Dyskinesia, Primary, 41
Recurrent sinusitis, Bronchiectasis, Impaired nasal mucociliary clearance, Recurrent otitis media OMIM:618449
Benign Recurrent Intrahepatic Cholestasis
Cholelithiasis, Cholestatic liver disease, Pancreatitis, Cirrhosis, Hepatocellular carcinoma, Ele... ORPHA:65682
Aspergillosis
Keratitis, Asthma, Sinusitis, Osteomyelitis, Chronic pulmonary obstruction, Hypersensitivity pneu... ORPHA:1163
Q Fever
Respiratory distress, Hepatomegaly, Maculopapular exanthema, Myocarditis, Pneumonia, Weight loss,... ORPHA:781
Immunodeficiency 50
Eczema, Recurrent respiratory infections OMIM:300988
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Elevated hepatic transaminase, Cholestatic liver disease OMIM:602114
Systemic Lupus Erythematosus, Susceptibility To, 6
Pleuritis, Pericarditis, Malar rash, Arthritis OMIM:609939
Renal Tubular Dysgenesis
Nephropathy, Renotubular dysgenesis, Multiple renal cysts, Tetralogy of Fallot, Proximal tubulopathy ORPHA:3033
Inflammatory Skin And Bowel Disease, Neonatal, 2
Failure to thrive, Pustule, Recurrent pneumonia, Recurrent bronchiolitis, Hypertension OMIM:616069
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Hepatitis, Recurrent respiratory infections ORPHA:363523
Pneumocystosis
Chronic oral candidiasis, Multiple pulmonary cysts, Hypoxemia, Nonproductive cough, Respiratory i... ORPHA:723
Legionnaires Disease
Pancreatitis, Splenomegaly, Respiratory insufficiency, Endocarditis, Arrhythmia, Abnormal pleura ... ORPHA:549
Immunodeficiency 85 And Autoimmunity
Oligoarthritis, Eczema, Erythroderma, Pulmonary fibrosis, Failure to thrive in infancy, Recurrent... OMIM:619510
Isolated Agammaglobulinemia
Failure to thrive, Sinusitis, Skin rash, Otitis media, Arthritis, Pneumonia, Inflammatory abnorma... ORPHA:229717
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, Failure to thrive, Weight loss, Cachexia OMIM:612075
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Chronic bronchitis, Pneumonia OMIM:614069
Ichthyosis, Congenital, Autosomal Recessive 10
Erythroderma OMIM:615024
African Iron Overload
Abnormal pancreas morphology, Hepatomegaly, Viral hepatitis, Micronodular cirrhosis, Peritonitis,... ORPHA:139507
Pleural Mesothelioma
Respiratory distress, Hepatomegaly, Abnormal pleura morphology, Cough, Abnormal cardiovascular sy... ORPHA:50251
Copper Deficiency, Familial Benign
Failure to thrive, Seborrheic dermatitis OMIM:121270
Genitopalatocardiac Syndrome
Double outlet right ventricle, Hypospadias, Ventricular septal defect, Renal cyst, Transposition ... OMIM:231060
Severe Combined Immunodeficiency, X-Linked
Failure to thrive, Chronic oral candidiasis, Hepatomegaly, Skin rash, Recurrent pneumonia, Pneumonia OMIM:300400
Caspase 8 Deficiency
Asthma, Failure to thrive, Splenomegaly, Eczema, Pneumonia, Recurrent sinopulmonary infections OMIM:607271
Graft Versus Host Disease
Failure to thrive, Inflammatory abnormality of the skin, Elevated circulating alkaline phosphatas... ORPHA:39812
Ciliary Dyskinesia, Primary, 32
Ciliary dyskinesia, Bronchiectasis, Neonatal respiratory distress, Immotile cilia, Recurrent resp... OMIM:616481
Ciliary Dyskinesia, Primary, 36, X-Linked
Cough, Recurrent sinusitis, Neonatal respiratory distress, Bronchiectasis, Recurrent respiratory ... OMIM:300991
Omenn Syndrome
Failure to thrive, Hepatomegaly, Splenomegaly, Pneumonia, Erythroderma OMIM:603554
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Rheumatoid arthritis, Epididymitis, Chronic sinusitis, Pneumonia, Cholecystiti... ORPHA:183675
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Gastritis, Eczema, Pneumonia, Failure to thrive in infancy, Eczematoid derm... ORPHA:37042
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Glomerulonephritis, Pneumonia OMIM:247800
Microlissencephaly
Pneumonia ORPHA:1083
Ciliary Dyskinesia, Primary, 7
Reduced FEV1/FVC ratio, Cough, Chronic rhinitis, Ciliary dyskinesia, Recurrent pneumonia, Restric... OMIM:611884
Ichthyosis With Confetti
Erythroderma, Decreased body weight, Pruritus OMIM:609165
Rigid Spine Syndrome
Respiratory insufficiency, Abnormality on pulmonary function testing, Cardiac conduction abnormal... ORPHA:97244
Whipple Disease
Hepatomegaly, Splenomegaly, Cachexia, Respiratory insufficiency, Myositis, Myocarditis, Arthritis... ORPHA:3452
Combined Immunodeficiency Due To Dock8 Deficiency
Asthma, Recurrent bacterial skin infections, Atopic dermatitis, Chronic otitis media, Recurrent s... ORPHA:217390
Epidermodysplasia Verruciformis
Telangiectasia of the skin, Seborrheic dermatitis, Pustule, Recurrent skin infections ORPHA:302
Ciliary Dyskinesia, Primary, 28
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis,... OMIM:615505
Chronic Beryllium Disease
Reduced FEV1/FVC ratio, Lymphocytic interstitial pneumonia, Respiratory insufficiency, Cough, Ret... ORPHA:133
Erythema Nodosum, Familial
Erythema nodosum OMIM:132990
Peeling Skin Syndrome 1
Erythroderma, Asthma, Pruritus OMIM:270300
Scedosporiosis
Unusual skin infection, Bronchial breath sound, Sinusitis, Osteomyelitis, Pleural empyema, Endoca... ORPHA:449280
Immunodeficiency, Common Variable, 1
Hepatomegaly, Splenomegaly, Recurrent sinusitis, Recurrent bronchitis, Recurrent pneumonia, Pneum... OMIM:607594
Bare Lymphocyte Syndrome, Type Ii
Failure to thrive, Colitis, Viral hepatitis, Recurrent upper respiratory tract infections, Biliar... OMIM:209920
Systemic Capillary Leak Syndrome
Pulmonary edema, Pancreatitis, Arrhythmia, Myocarditis, Cough, Hypotension, Weight loss, Rhinorrh... ORPHA:188
Microsporidiosis
Keratitis, Pancreatitis, Lymphadenitis, Myocarditis, Biliary tract abnormality, Pneumonia, Weight... ORPHA:2552
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy, Congestive heart fai... OMIM:617222
Omenn Syndrome
Failure to thrive, Hepatomegaly, Splenomegaly, Pneumonia, Pruritus, Erythroderma, Thyroiditis ORPHA:39041
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Avian Influenza
Respiratory distress, Conjunctivitis, Nonproductive cough, Myelitis, Tachypnea, Cough, Pneumothor... ORPHA:454836
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Crazy paving pattern, Crackles, Tachycardia, Acute infectious pneumonia, Ta... ORPHA:264675
Autoimmune Hepatitis
Viral hepatitis, Splenomegaly, Cirrhosis, Fulminant hepatitis, Sclerosing cholangitis, Spider hem... ORPHA:2137
Idiopathic Pulmonary Fibrosis
Pulmonary insufficiency, Crackles, Reticular pattern on pulmonary HRCT, Abnormal pulmonary inters... ORPHA:2032
Hepatorenocardiac Degenerative Fibrosis
Reduced renal corticomedullary differentiation, Hepatosplenomegaly, Hyperechogenic kidneys, Enlar... OMIM:619902
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Chronic otitis media, Abnormal mucociliary clearance, Bronchiectasis, Recur... OMIM:619466
Alopecia-Intellectual Disability Syndrome 4
Erythroderma OMIM:618840
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst OMIM:138790
Congenital Bile Acid Synthesis Defect Type 2
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Elevated circulating alkaline phosphatase ... ORPHA:79303
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Immunodeficiency 57 With Autoinflammation
Failure to thrive, Gastritis, Skin rash, Chronic lung disease, Inflammation of the large intestin... OMIM:618108
Hepatitis, Fulminant Viral, Susceptibility To
Hepatomegaly, Hepatic failure, Fulminant hepatitis, Elevated hepatic transaminase, Hashimoto thyr... OMIM:618549
Felty Syndrome
Sinusitis, Hepatomegaly, Splenomegaly, Chronic otitis media, Arthritis, Pleuritis, Episcleritis, ... ORPHA:47612
Dermatitis, Atopic
Asthma, Recurrent skin infections, Eczema, Atopic dermatitis, Allergic rhinitis, Pruritus, Conjun... OMIM:603165
Quinquaud Folliculitis Decalvans
Pustule, Recurrent skin infections ORPHA:346
Congenital Disorder Of Glycosylation, Type Iih
Elevated circulating aspartate aminotransferase concentration, Failure to thrive in infancy, Elev... OMIM:611182
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Decreased nasal nitric oxide, Ciliary dyskinesia, Recurrent respiratory infections OMIM:615872
Rat-Bite Fever
Oligoarthritis, Pancreatitis, Pustule, Skin rash, Maculopapular exanthema, Lymphadenitis, Endocar... ORPHA:31205
Corneodermatoosseous Syndrome
Erythroderma OMIM:122440
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Failure to thrive, Eczema, Glomerulonephritis, Arthritis, Hepatitis, Erythroderma OMIM:304790
Bacterial Toxic-Shock Syndrome
Respiratory distress, Myocarditis, Pneumonia, Septic arthritis, Osteomyelitis, Peritonitis, Tachy... ORPHA:36234
Chilblain Lupus
Asthma, Discoid lupus rash, Inflammatory abnormality of the skin, Pruritis on hand, Skin rash, Ra... ORPHA:90280
Campomelia, Cumming Type
Polycystic kidney dysplasia, Pancreatic cysts OMIM:211890
Ciliary Dyskinesia, Primary, 11
Chronic bronchitis, Chronic rhinitis, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis, Ne... OMIM:612649
Polyarteritis Nodosa
Raynaud phenomenon, Hypertension, Pleuritis, Weight loss, Abnormal lung morphology, Pericarditis,... ORPHA:767
Ciliary Dyskinesia, Primary, 16
Pulmonary insufficiency, Chronic otitis media, Chronic rhinitis, Ciliary dyskinesia, Chronic sinu... OMIM:614017
Combined Oxidative Phosphorylation Deficiency 51
Aspiration pneumonia, Small for gestational age, Respiratory failure, Neonatal respiratory distress OMIM:619057
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenomegaly, Cirrhosis, E... OMIM:214900
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Arthritis, Recurrent pharyngitis, Infectious encephalitis, Weight loss ORPHA:42642
Odontomatosis-Aortae Esophagus Stenosis Syndrome
Myocarditis, Hepatic failure ORPHA:2724
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Lymphatic Malformation 3
Recurrent skin infections OMIM:613480
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Failure to thrive, Sinusitis, Inflammatory abnormality of the skin, Pulmonary insufficiency, Recu... ORPHA:277
Immunodeficiency 62
Bronchiectasis OMIM:618459
Seborrhea-Like Dermatitis With Psoriasiform Elements
Seborrheic dermatitis OMIM:610227
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent sinusitis, Bronchiectasis, Recurrent pneumonia, Recurrent otitis media OMIM:620032
Reticular Dysgenesis
Failure to thrive, Skin rash, Chronic otitis media, Weight loss, Recurrent respiratory infections ORPHA:33355
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Recurrent skin infections, Pulmonic stenosis, Psoriasiform dermatitis, Erythroderma, Recurrent re... OMIM:615508
Moynahan Syndrome
Cachexia ORPHA:2574
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst, Hepatomegaly OMIM:614870
Interstitial Lung Disease 1
Interlobular septal thickening, Crackles, Decreased DLCO, Cough, Elevated bronchoalveolar lavage ... OMIM:619611
Inflammatory Bowel Disease 28, Autosomal Recessive
Crohn's disease, Colitis, Enterocolitis, Folliculitis, Pyoderma, Hematochezia, Perianal abscess OMIM:613148
Immunodeficiency, Common Variable, 12, With Autoimmunity
Chronic pulmonary obstruction, Recurrent skin infections, Recurrent sinusitis, Recurrent pneumoni... OMIM:616576
Candidiasis, Familial, 8
Blepharitis, Seborrheic dermatitis OMIM:615527
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Failure to thrive, Lymphocytic interstitial pneumonia OMIM:245590
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Cachexia, Arrhythmia, Elevated hepatic transaminase, Exer... ORPHA:42
Erosive Pustular Dermatosis Of The Scalp
Pustule ORPHA:222
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Failure to thrive, Cirrhosis, Elevated gamma-glutamyltransferase level, Elevated hepatic transami... OMIM:242150
Lymphoid Interstitial Pneumonia
Pulmonary venous hypertension, Hepatomegaly, Multiple pulmonary cysts, Rheumatoid arthritis, Ecze... ORPHA:79128
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Myoglobinuria, Cystic renal dysplasia, Red-brown urine, Dicarboxylic aciduria, Tubu... ORPHA:228308
Harlequin Ichthyosis
Erythroderma, Respiratory insufficiency, Recurrent respiratory infections, Sudden cardiac death ORPHA:457
Bullous Pemphigoid
Eczema, Weight loss, Psoriasiform dermatitis ORPHA:703
Gillessen-Kaesbach-Nishimura Syndrome
Polycystic kidney dysplasia, Abnormal heart morphology OMIM:263210
Loeffler Endocarditis
Aortic valve stenosis, Restrictive cardiomyopathy, Mitral regurgitation, Palpitations, Arrhythmia... ORPHA:75566
Ciliary Dyskinesia, Primary, 20
Respiratory insufficiency due to defective ciliary clearance, Cough, Recurrent sinusitis, Ciliary... OMIM:615067
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Skin rash, Splenomegaly, Juvenile rheumatoid arthritis, Anterior uveitis, Pleural e... ORPHA:85414
Peripartum Cardiomyopathy
Myocarditis, Heart murmur, Reduced left ventricular ejection fraction, Respiratory failure, Left ... ORPHA:563
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia, Recurrent respiratory infections ORPHA:1389
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Ventricular septal defect, Renal cyst, Renal hypoplasia, Truncus arteriosus OMIM:228940
Trichohepatoenteric Syndrome 2
Failure to thrive, Colitis, Hepatomegaly, Small for gestational age, Cirrhosis, Chronic hepatitis OMIM:614602
Netherton Syndrome
Erythroderma, Asthma, Failure to thrive, Allergic rhinitis OMIM:256500
Congenital Disorder Of Glycosylation, Type If
Erythroderma, Failure to thrive OMIM:609180
Focal Myositis
Weight loss, Myositis ORPHA:48918
Complement Component 5 Deficiency
Generalized seborrheic dermatitis OMIM:609536
Antisynthetase Syndrome
Telangiectasia of the skin, Skin rash, Respiratory insufficiency, Myositis, Abnormal pulmonary in... ORPHA:81
Immunodeficiency 75
Bronchiectasis, Hepatosplenomegaly, Recurrent respiratory infections OMIM:619126
Diffuse Cutaneous Mastocytosis
Hepatomegaly, Abnormality of the spleen, Hypotension, Wheezing, Elevated total serum tryptase, Pr... ORPHA:79456
Systemic Lupus Erythematosus
Nephritis, Arthritis, Pleuritis, Lupus nephritis, Malar rash, Pericarditis OMIM:152700
Femoral-Facial Syndrome
Renal hypoplasia/aplasia, Polycystic kidney dysplasia, Abnormal localization of kidney, Long penis ORPHA:1988
Immunodeficiency 27A
Splenomegaly, Hepatosplenomegaly, Abnormal bronchus physiology, Increased inflammatory response, ... OMIM:209950
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Recurrent skin infections, Recurrent upper respiratory tract infections, Atopic dermatitis, Recur... OMIM:618944
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Failure to thrive, Hepatomegaly, Splenomegaly, Eczema, Lymphadenitis, Inflammation of the large i... OMIM:615895
Ciliary Dyskinesia, Primary, 26
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis,... OMIM:615500
Ciliary Dyskinesia, Primary, 24
Sinusitis, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis OMIM:615481
Ciliary Dyskinesia, Primary, 45
Chronic rhinitis, Immotile cilia, Recurrent respiratory infections, Bronchiectasis OMIM:618801
Sarcoidosis, Susceptibility To, 2
Bronchiectasis, Elevated bronchoalveolar lavage fluid lymphocyte proportion, Hepatomegaly, Hypoxe... OMIM:612387
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Absent bronchoalveolar surfactant-protein C, Desquamative interstitial pneu... OMIM:610913
Lamellar Ichthyosis
Erythroderma, Pruritus, Chronic otitis media, Recurrent respiratory infections ORPHA:313
Gallbladder Disease 1
Cholelithiasis, Pancreatitis, Elevated circulating alkaline phosphatase concentration, Cholestasi... OMIM:600803
Attrv30M Amyloidosis
Nephropathy, Cardiomyopathy, Cardiomegaly, Abnormal renal physiology ORPHA:85447
Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Cough, Pruritus, Dyspnea, Weight loss ORPHA:98293
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Abnormality of the kidney, Hepatomegaly, Cystic renal dysplasia, Ectopic kidney OMIM:613730
Pressure-Induced Localized Lipoatrophy
Inflammatory abnormality of the skin ORPHA:90160
Bare Lymphocyte Syndrome, Type I
Chronic otitis media, Bronchiolitis, Recurrent bronchitis, Chronic sinusitis, Emphysema, Bronchie... OMIM:604571
Congenital Enterovirus Infection
Respiratory distress, Skin rash, Hepatic failure, Myocarditis, Hypotension, Cholestasis, Hepatiti... ORPHA:292
Polymyositis
Hepatomegaly, Elevated aldolase level, Respiratory insufficiency, Arrhythmia, Abnormal pulmonary ... ORPHA:732
Porphyria Cutanea Tarda, Type I
Eczema, Hepatic fibrosis OMIM:176090
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Bronchiectasis, Neonatal asphyxia, Congenital laryngeal stridor ORPHA:2375
Ciliary Dyskinesia, Primary, 25
Sinusitis, Chronic pulmonary obstruction, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis... OMIM:615482
Ciliary Dyskinesia, Primary, 12
Chronic pulmonary obstruction, Chronic otitis media, Chronic rhinitis, Chronic sinusitis, Ciliary... OMIM:612650
Sézary Syndrome
Hepatomegaly, Splenomegaly, Abnormal pleura morphology, Pruritus, Erythroderma ORPHA:3162
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Distal Tetrasomy 15Q
Atrial septal defect, Abnormality of the kidney, Nephroblastoma, Polycystic kidney dysplasia, Hor... ORPHA:314588
Immunodeficiency 66
Pustule, Recurrent skin infections OMIM:618847
Riboflavin Transporter Deficiency
Sleep apnea, Respiratory insufficiency, Hypertension, Cachexia ORPHA:97229
Infant Acute Respiratory Distress Syndrome
Cardiac arrest, Pulmonary edema, Tachycardia, Hypotension, Tachypnea, Respiratory tract infection... ORPHA:70587
Inflammatory Bowel Disease 11
Weight loss, Inflammation of the large intestine, Hematochezia OMIM:191390
Beta-Thalassemia
Cholelithiasis, Hepatomegaly, Splenomegaly, Respiratory insufficiency, Hepatitis, Hypertrophic ca... ORPHA:848
Gilbert Syndrome
Elevated hepatic transaminase, Jaundice, Hepatic failure OMIM:143500
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Thyroiditis, Chronic oral candidiasis, Psoriasiform dermatitis, Eczema, Hepatosplenomegaly, Pulmo... OMIM:606367
American Trypanosomiasis
Hepatomegaly, Skin rash, Splenomegaly, Arrhythmia, Myocarditis, Cough, Infectious encephalitis, D... ORPHA:3386
Netherton Syndrome
Asthma, Skin rash, Eczema, Emphysema, Erythroderma, Recurrent respiratory infections ORPHA:634
Tracheobronchopathia Osteochondroplastica
Respiratory insufficiency, Wheezing, Bronchitis, Upper airway obstruction, Esophagitis, Pneumonia... ORPHA:3348
Inflammatory Bowel Disease (Crohn Disease) 1
Crohn's disease, Inflammation of the large intestine, Recurrent aphthous stomatitis, Ulcerative c... OMIM:266600
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Atrial septal defect, Aortic valve stenosis, Splenomegaly, Enlarged kidney, Situs i... OMIM:208540
Chilblain Lupus 1
Chilblains, Raynaud phenomenon OMIM:610448
Multiple Acyl-Coa Dehydrogenase Deficiency
Renal cortical cysts, Hepatomegaly, Glycosuria, Generalized aminoaciduria, Polycystic kidney dysp... OMIM:231680
Ciliary Dyskinesia, Primary, 43
Recurrent upper respiratory tract infections, Abdominal situs inversus, Chronic rhinitis, Recurre... OMIM:618699
Ciliary Dyskinesia, Primary, 5
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis,... OMIM:608647
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Macrovesicular hepatic steatosis, Cholestasis, Acute hepatic steatosis, Hepatitis, Cholesterol ga... ORPHA:209902
Familial Hemophagocytic Lymphohistiocytosis
Decreased liver function, Colitis, Hepatomegaly, Cholestatic liver disease, Skin rash, Splenomega... ORPHA:540
Bullous Impetigo
Recurrent bacterial skin infections, Pustule, Septic arthritis ORPHA:36237
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Pleural effusion, Constrictive pericarditis OMIM:602248
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Jaundice, Elevated hepatic transa... OMIM:301045
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pleural effus... ORPHA:411703
Pulmonary Alveolar Proteinosis, Acquired
Intraalveolar phospholipid accumulation, Decreased DLCO, Cough, Pneumonia, Restrictive ventilator... OMIM:610910
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia, Cough, Respiratory failure requiring assisted ventilation, Dyspnea, Respira... ORPHA:90117
Immunodeficiency With Hyper-Igm, Type 1
Failure to thrive, Chronic oral candidiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Chronic hepat... OMIM:308230
Mantle Cell Lymphoma
Weight loss, Splenomegaly ORPHA:52416
Eosinophilic Granulomatosis With Polyangiitis
Asthma, Sinusitis, Transient ischemic attack, Skin rash, Recurrent intrapulmonary hemorrhage, Res... ORPHA:183
Ichthyosis, Hystrix-Like, With Deafness
Erythroderma, Punctate keratitis OMIM:602540
Bronchial Neuroendocrine Tumor
Asthma, Hepatomegaly, Tricuspid regurgitation, Hepatic failure, Nonproductive cough, Right ventri... ORPHA:97287
Macrophage Activation Syndrome
Decreased liver function, Hepatomegaly, Splenomegaly, Juvenile rheumatoid arthritis, Elevated cir... ORPHA:158061
Complement Factor B Deficiency
Peritonitis, Pneumonia OMIM:615561
Ciliary Dyskinesia, Primary, 14
Bronchiectasis, Chronic bronchitis, Otitis media, Wheezing, Cough, Chronic sinusitis, Ciliary dys... OMIM:613807
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Failure to thrive, Cholestatic liver disease, Giant cell hepatitis, Hepatomegaly, Elevated hepati... OMIM:613404
Cd8 Deficiency, Familial
Bronchiectasis, Recurrent respiratory infections OMIM:608957
Primary Sclerosing Cholangitis
Cholelithiasis, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Cholestasis, Uveitis, Chronic hep... ORPHA:171
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Myoglobinuria, Cystic renal dysplasia, Red-brown urine, Tubulointerstitial nephriti... ORPHA:157
Ciliary Dyskinesia, Primary, 34
Bronchiectasis, Chronic rhinitis, Recurrent sinusitis, Recurrent bronchitis, Reduced respiratory ... OMIM:617091
Tularemia
Respiratory distress, Conjunctivitis, Skin rash, Otitis media, Tachycardia, Cough, Pneumonia, Ple... ORPHA:3392
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Long-chain dicarboxylic aciduria, Hepatomegaly, Ureteral duplication, Enlarged kidney, Renal dysp... OMIM:608836
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617874
Carcinoma Of Esophagus
Obesity, Weight loss, Cough ORPHA:70482
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis, Recurrent upper and lower respiratory tract infections, Osteomyelitis, Pustule, H... ORPHA:171876
Keratolytic Winter Erythema
Pustule ORPHA:50943
Erythrokeratodermia Variabilis Et Progressiva 6
Superficial dermal perivascular inflammatory infiltrate, Pruritus OMIM:618531
Trisomy 17P
Aortic valve stenosis, Hypoplasia of penis, Hypoplastic left heart, Polycystic kidney dysplasia, ... ORPHA:261290
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Telan... OMIM:615139
Immunodeficiency 25
Erythroderma, Recurrent pneumonia OMIM:610163
Classic Hodgkin Lymphoma
Hepatomegaly, Skin rash, Splenomegaly, Respiratory insufficiency, Cough, Pruritus, Weight loss ORPHA:391
Pemphigus Foliaceus
Pustule, Crusting erythematous dermatitis, Pruritus, Erythroderma, Psoriasiform dermatitis ORPHA:79481
Immune-Mediated Necrotizing Myopathy
Skin rash, Raynaud phenomenon, Palpitations, Myositis, Abnormal pulmonary interstitial morphology... ORPHA:206569
Ciliary Dyskinesia, Primary, 15
Bronchiectasis, Chronic bronchitis, Wheezing, Cough, Chronic sinusitis, Recurrent pneumonia, Cili... OMIM:613808
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Hepatomegaly, Cachexia, Neoplasm of the lung, Abnormality of the perito... ORPHA:83469
Neonatal Alloimmune Neutropenia
Jaundice, Pneumonia ORPHA:464370
Scrub Typhus
Skin rash, Splenomegaly, Myocarditis, Cough, Anterior uveitis, Hypotension, Infectious encephalit... ORPHA:83317
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Increased hepatic glycogen content, Chronic hepatitis, Sudden cardiac death, Tachyc... OMIM:614921
Alagille Syndrome 2
Renal tubular acidosis, Atrial septal defect, Pulmonic stenosis, Hematuria, Tetralogy of Fallot, ... OMIM:610205
Stuve-Wiedemann Syndrome 2
Respiratory distress, Eczema, Neonatal death, Pulmonary arterial hypertension, Stillbirth, Conges... OMIM:619751
Ciliary Dyskinesia, Primary, 35
Cough, Chronic rhinitis, Chronic sinusitis, Bronchiectasis, Recurrent respiratory infections OMIM:617092
Lichen Planopilaris
Hepatitis, Pruritus ORPHA:525
Mal De Meleda
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate ORPHA:87503
Cleft Velum
Aspiration pneumonia, Recurrent otitis media ORPHA:99772
Retinal Dystrophy And Microvillus Inclusion Disease
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... OMIM:619446
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, 3-Methylglutaric aciduria, Polycystic kidney dysplasia, Cardiomyopathy, Glutaric ac... ORPHA:26791
Laryngotracheoesophageal Cleft Type 4
Abnormality of mesentery morphology, Cachexia, Respiratory insufficiency, Abnormality of the spleen ORPHA:93941
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Hepatic steatosis, Elevated circulating alkaline phosphatase concentrat... OMIM:616829
Severe Acute Respiratory Syndrome
Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi... ORPHA:140896
Immunodeficiency 72 With Autoinflammation
Herpes simplex encephalitis, Hepatosplenomegaly, Recurrent otitis media, Bronchiectasis, Molluscu... OMIM:618982
Glycogen Storage Disease Vi
Increased hepatic glycogen content, Elevated hepatic transaminase, Hepatomegaly OMIM:232700
Combined Oxidative Phosphorylation Deficiency 33
Nephrotic syndrome, Hepatomegaly, Left ventricular hypertrophy, Cardiomyopathy, Cardiomegaly OMIM:617713
Immunodeficiency By Defective Expression Of Mhc Class Ii
Acute otitis media, Failure to thrive, Sinusitis, Chronic hepatitis due to cryptosporidium infect... ORPHA:572
Nephronophthisis 9
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis OMIM:613824
Budd-Chiari Syndrome
Hepatomegaly, Splenomegaly, Acute hepatic failure, Cirrhosis, Peritonitis, Cholecystitis, Elevate... ORPHA:131
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Osteomyelitis, Skin rash, Palmoplantar pustulosis, Inflammation of the large intestine, Arthritis... ORPHA:324964
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Prostatitis, Pyoderma, Enteroviral hepatitis, Epididymitis, Infectious encephalitis, P... OMIM:307200
Porphyria Cutanea Tarda
Recurrent bacterial skin infections, Viral hepatitis, Periportal fibrosis, Abnormal enzyme/coenzy... ORPHA:101330
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss, Hepatomegaly, Pruritus, Splenomegaly ORPHA:86893
Peroxisome Biogenesis Disorder 2A (Zellweger)
Polycystic kidney dysplasia, Hepatomegaly, Aminoaciduria, Abnormal heart morphology OMIM:214110
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Supraventricular arrhythmia, Pancreatitis, Vasculitis in the skin, Eczema, ... ORPHA:3260
Congenital Isolated Acth Deficiency
Hepatitis, Hypotension, Prolonged neonatal jaundice ORPHA:199296
Ciliary Dyskinesia, Primary, 38
Chronic otitis media, Cough, Chronic sinusitis, Bronchiectasis, Neonatal respiratory distress, Rh... OMIM:618063
Panniculitis-Induced Localized Lipodystrophy
Inflammatory abnormality of the skin, Vasculitis in the skin ORPHA:90159
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Eczematoid dermatitis, Recurrent bronchopulmonary infections, Pyoderma, Hepato... OMIM:242700
Immunodeficiency 77
Bronchiectasis, Cutaneous abscess, Chronic pulmonary obstruction OMIM:619223
Medullary cystic kidney disease 2
Renal tubular atrophy, Multiple renal cysts, Tubulointerstitial nephritis, Multiple small medulla... OMIM:603860
Adult Acute Respiratory Distress Syndrome
Abnormal blood gas level, Pulmonary edema, Pancreatitis, Hypotension, Vasculitis, Shock, Pneumoni... ORPHA:70578
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Recurrent upper respiratory tract infections, Hepatosplenomegaly, Recurrent lo... ORPHA:169154
Joubert Syndrome 39
Polycystic kidney dysplasia, Hypoplastic left heart OMIM:619562
Familial Nasal Acilia
Respiratory distress, Recurrent upper respiratory tract infections, Chronic rhinitis, Chronic sin... ORPHA:922
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Seborrheic dermatitis, Acne OMIM:614441
Amoebiasis Due To Entamoeba Histolytica
Acute colitis, Elevated circulating alkaline phosphatase concentration, Pleural empyema, Constric... ORPHA:67
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Absent bronchoalveolar surfactant-protein C, Desquamative interstiti... OMIM:610921
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Elevated circulating alkaline phosphatase concentration, Cirrhosis, Sc... ORPHA:562639
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Cortisone Reductase Deficiency 1
Obesity, Acne OMIM:604931
Elastoderma
Eczema, Erysipelas ORPHA:228240
Ciliary Dyskinesia, Primary, 13
Recurrent sinusitis, Recurrent bronchitis, Ciliary dyskinesia, Recurrent otitis media, Bronchiect... OMIM:613193
Fanconi Anemia, Complementation Group O
Abnormal heart morphology, Renal cyst, Hydronephrosis, Stage 5 chronic kidney disease OMIM:613390
Odontochondrodysplasia 1
Polycystic kidney dysplasia, Nephronophthisis OMIM:184260
Insulin Autoimmune Syndrome
Weight loss, Arthralgia/arthritis ORPHA:411593
Immunodeficiency 52
Failure to thrive, Splenomegaly, Chronic lung disease, Recurrent pneumonia, Bronchiectasis OMIM:617514
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Asthma, Eosinophilic infiltration of the esophagus, Cerebral vasculitis, Eczema, Atopic dermatiti... OMIM:243700
Acute Lung Injury
Respiratory distress, Abnormal pulmonary interstitial morphology, Tachypnea, Acute pancreatitis, ... ORPHA:178320
Bardet-Biedl Syndrome 4
Abnormality of the kidney, Renal cyst OMIM:615982
Galactose Epimerase Deficiency
Weight loss, Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Spinocerebellar Ataxia 48
Cachexia OMIM:618093
Letterer-Siwe Disease
Hepatosplenomegaly, Stomatitis, Seborrheic dermatitis, Dyspnea, Jaundice OMIM:246400
Congenital Disorder Of Glycosylation, Type Iic
Bronchiolitis, Periodontitis, Pneumonia, Recurrent otitis media OMIM:266265
Biotinidase Deficiency
Apnea, Hepatomegaly, Skin rash, Recurrent skin infections, Splenomegaly, Tachypnea, Seborrheic de... OMIM:253260
Wolman Disease
Cachexia, Hepatomegaly, Splenomegaly, Hepatic failure ORPHA:75233