Gene Summary

Name:
AE binding protein 1
Synonyms:
ACLP

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 heart morphology Aebp1tm1.1(KOMP)Wtsi HET Early adult 0.00
abnormal tail morphology Aebp1tm1.1(KOMP)Wtsi HOM E15.5 0.00
preweaning lethality, complete penetrance Aebp1tm1.1(KOMP)Wtsi HOM   Early adult 0.00
enlarged heart Aebp1tm1.1(KOMP)Wtsi HET Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

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

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

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 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Central nervous system ganglion N/A heterozygote 0.0% (0 of 2)
Ear N/A heterozygote 0.0% (0 of 2)
Embryo N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Footplate N/A heterozygote 0.0% (0 of 2)
Forebrain N/A heterozygote 0.0% (0 of 2)
Forelimb N/A heterozygote 0.0% (0 of 2)
Gut N/A heterozygote 0.0% (0 of 2)
Handplate N/A heterozygote 0.0% (0 of 2)
Head N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Nose N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Skeleton N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Urinary system N/A heterozygote 0.0% (0 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood 0.0%
bone marrow 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cecum 5.73% (22 of 384)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
chest bone Unavailable
colon 15.71% (22 of 140)
diaphragm 0.0%
duodenum 3.57% (5 of 140)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.71% (1 of 140)
heart 0.33% (2 of 598)
hindlimb 0.0%
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
ileum 14.29% (20 of 140)
jejunum 8.57% (12 of 140)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.31% (1 of 323)
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
stomach pyloric region 0.0%
striatum 0.5% (3 of 598)
sublingual gland 0.0%
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
tongue 3.57% (5 of 140)
trachea 0.5% (3 of 598)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vagina 0.0%
vas deferens 4.56% (18 of 395)
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 1.64% (1 of 61)
brain 1.2% (6 of 500)
central nervous system ganglion 1.49% (1 of 67)
ear 0.2% (1 of 492)
embryo 0.4% (2 of 495)
eye 0.2% (1 of 491)
footplate 0.2% (1 of 496)
forebrain 0.2% (1 of 497)
forelimb 0.2% (1 of 494)
gut 1.79% (1 of 56)
handplate 0.2% (1 of 491)
head 1.02% (5 of 492)
heart 0.2% (1 of 501)
hindbrain 1% (5 of 498)
hindlimb 0.2% (1 of 488)
liver 0.21% (1 of 479)
lung 0.21% (1 of 482)
mandibular process 0.2% (1 of 494)
maxillary process 0.2% (1 of 498)
midbrain 0.2% (1 of 493)
nose 1.33% (1 of 75)
oral cavity 0.2% (1 of 491)
skeleton 1.3% (1 of 77)
skin 0.2% (1 of 489)
spinal cord 1.47% (1 of 68)
tail 0.2% (1 of 491)
tail somite group 0.2% (1 of 491)
trachea 1.72% (1 of 58)
urinary system 1.82% (1 of 55)

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 Lateral Orientation

10 Images

MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

Embryo LacZ

LacZ images wholemount

8 Images

Adult LacZ

LacZ Images Section

19 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by Aebp1 mutations

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

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

The table below shows human diseases associated to Aebp1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ehlers-Danlos Syndrome, Classic-Like, 2
High palate, Inguinal hernia, Redundant skin, Ventral hernia, Umbilical hernia OMIM:618000
Classical-Like Ehlers-Danlos Syndrome Type 2
Cellulitis, Alopecia, Inguinal hernia, Widened atrophic scar, Ventral hernia, Hypertriglyceridemi... ORPHA:536532

The table below shows human diseases predicted to be associated to Aebp1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Lipomatosis, Multiple Symmetric
Lipoma OMIM:151800
Lipomatosis, Multiple
Multiple lipomas OMIM:151900
Ethanolaminosis
Cardiomegaly OMIM:227150
Gastroschisis
Abnormality of mesentery morphology, Intestinal atresia, Gastroschisis ORPHA:2368
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... OMIM:620058
Chylomicron Retention Disease
Failure to thrive, Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hyp... OMIM:246700
Gastroschisis
Gastroschisis, Abdominal wall defect OMIM:230750
Glycogen Storage Disease Vi
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia, Postnatal growth retardation, Failure... OMIM:232700
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Failure to thrive, Short stature, Decreased HDL cholesterol concentration, Decreased LDL choleste... OMIM:616834
Squalene Synthase Deficiency
Abnormality of hair pigmentation, Increased circulating farnesol concentration, Hypocholesterolem... OMIM:618156
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Colonic Atresia
Abdominal situs inversus, Peptic ulcer, Colonic atresia, Omphalocele, Duodenal stenosis, Abnormal... ORPHA:1198
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hirsutism, Hypocalcemia, Short stature, Generalized lipodyst... OMIM:612526
Potocki-Lupski Syndrome
Failure to thrive, Poor eye contact, Short stature, Small for gestational age, Hypocholesterolemia OMIM:610883
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the rectum, Neoplasm of the liver, Intestinal bleeding, Anal canal squamous cell carc... ORPHA:424019
Silver-Russell Syndrome Due To 11P15 Microduplication
Severe intrauterine growth retardation, Failure to thrive, Short stature, Small for gestational a... ORPHA:231144
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Cardiomyopathy, Familial Hypertrophic 27
Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, Endocardial fibroelastosis... OMIM:618052
Secondary Short Bowel Syndrome
Malabsorption, Enterocolitis, Intestinal atresia, Steatorrhea, Small intestinal dysmotility, Volv... ORPHA:95427
Peroxisome Biogenesis Disorder 3B
Failure to thrive, Hypocholesterolemia, Steatorrhea OMIM:266510
Juvenile Hyaline Fibromatosis
Skin ulcer, Abnormality of the gastrointestinal tract, Death in infancy ORPHA:2028
Non-Epidermolytic Palmoplantar Keratoderma
Skin ulcer, Erythema ORPHA:2337
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Poor eye contact, Postnatal growth retardation, Hypercholesterolemia, Obesity, Impaired social in... ORPHA:254531
Combined Oxidative Phosphorylation Deficiency 33
Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly OMIM:617713
Hypobetalipoproteinemia, Familial, 1
Steatorrhea, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypocholesterolemia, ... OMIM:615558
Dermatofibrosarcoma Protuberans
Skin ulcer, Erythema ORPHA:31112
Citrullinemia, Type Ii, Neonatal-Onset
Failure to thrive, Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemi... OMIM:605814
Chylomicron Retention Disease
Failure to thrive, Hypocholesterolemia, Growth delay, Steatorrhea ORPHA:71
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Classic Mycosis Fungoides
Hepatomegaly, Splenomegaly, Erythema, Dry skin, Skin ulcer ORPHA:2584
Attrv30M Amyloidosis
Cardiomyopathy, Cardiomegaly ORPHA:85447
Proliferating Trichilemmal Cyst
Skin ulcer ORPHA:492
Maternal Uniparental Disomy Of Chromosome 4
Decreased body weight, Short stature, Abetalipoproteinemia, Elevated circulating creatine kinase ... ORPHA:96180
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ectopic anus, Cleft palate, Gastroschisis ORPHA:2476
Mandibuloacral Dysplasia
Increased adipose tissue around the neck, Lipoatrophy, Sparse hair, Alopecia, Increased subcutane... ORPHA:2457
Familial Atrial Myxoma
Bacterial endocarditis, Pulmonic valve myxoma, Cardiomegaly, Cardiac myxoma ORPHA:615
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Pyoderma gangrenosum OMIM:619986
Bile Acid Synthesis Defect, Congenital, 1
Failure to thrive, Hypocholesterolemia, Hyperbilirubinemia, Steatorrhea OMIM:607765
Congenital Factor Xii Deficiency
Penetrating foot ulcers ORPHA:330
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Cryoglobulinemic Vasculitis
Petechiae, Hepatomegaly, Viral hepatitis, Splenomegaly, Gastrointestinal infarctions, Purpura, Sk... ORPHA:91138
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... ORPHA:860
Chilblain Lupus 1
Skin ulcer OMIM:610448
Danon Disease
Myocardial fibrosis, Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ca... OMIM:300257
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hydrocele testis, Brittle hair, Sparse eyebrow, Neonatal death, Hypocholesterolemia OMIM:618810
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... ORPHA:555874
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly OMIM:600649
Alg12-Cdg
Failure to thrive, Abnormal adipose tissue morphology, Camptodactyly, Hypocholesterolemia, Hypoal... ORPHA:79324
Lichen Planopilaris
Skin ulcer, Abnormal intestine morphology, Hepatitis ORPHA:525
Beta-Thalassemia
Cholelithiasis, Hepatomegaly, Splenomegaly, Pallor, Hepatitis, Skin ulcer ORPHA:848
Reticular Dysgenesis
Skin ulcer, Malabsorption ORPHA:33355
Congenital Disorder Of Glycosylation, Type Ia
Failure to thrive, Flexion contracture, Steatorrhea, Hypocholesterolemia, Hypoalbuminemia, Abnorm... OMIM:212065
Timothy Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly OMIM:601005
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrioventricul... ORPHA:3092
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Skin ulcer, Acral ulceration ORPHA:139578
Reynolds Syndrome
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Hepatomegaly, Cirrhosis, Xerostomia,... ORPHA:779
Free Sialic Acid Storage Disease
Skin ulcer, Aplasia/Hypoplasia of the abdominal wall musculature, Hepatomegaly, Splenomegaly ORPHA:834
Congenital Analbuminemia
Hyperlipidemia, Hypoproteinemia, Small for gestational age, Increased alpha-globulin, Lipodystrop... ORPHA:86816
Infantile Myofibromatosis
Neoplasm of the pancreas, Tracheoesophageal fistula, Intestinal obstruction, Skin ulcer, Abnormal... ORPHA:2591
Attrv122I Amyloidosis
Cardiac amyloidosis, Aortic valve stenosis, Restrictive cardiomyopathy, Left ventricular hypertro... ORPHA:85451
Carnitine Deficiency, Systemic Primary
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Endocardial fibroelastosis OMIM:212140
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Cardiomegaly OMIM:618652
Limited Cutaneous Systemic Sclerosis
Skin ulcer, Dysphagia, Gastroesophageal reflux ORPHA:220402
Chronic Granulomatous Disease
Malabsorption, Hepatomegaly, Splenomegaly, Tracheoesophageal fistula, Pyloric stenosis, Skin ulce... ORPHA:379
Buerger Disease
Skin ulcer ORPHA:36258
Aorta Coarctation
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Abnorma... ORPHA:1457
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly ORPHA:858
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:269920
Dracunculiasis
Skin ulcer ORPHA:231
Aplasia Cutis Congenita
Skin ulcer ORPHA:1114
Lipodystrophy, Familial Partial, Type 2
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hirsutism, Loss of... OMIM:151660
Beta-Thalassemia Intermedia
Cholelithiasis, Decreased liver function, Hepatomegaly, Splenomegaly, Pallor, Cirrhosis, Hepatosp... ORPHA:231222
Cardiomyopathy, Familial Hypertrophic, 4
Right atrial enlargement, Hepatomegaly, Myofiber disarray, Muscular ventricular septal defect, Ve... OMIM:115197
Leishmaniasis
Hepatomegaly, Splenomegaly, Pallor, Elevated hepatic transaminase, Skin ulcer ORPHA:507
Isolated Agammaglobulinemia
Skin ulcer, Malabsorption ORPHA:229717
Mulibrey Nanism
Myocardial fibrosis, Hepatomegaly, Cardiomegaly, Pericardial constriction OMIM:253250
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Hepatosplenomegaly, Colitis, Pyoderma gangrenosum OMIM:604416
Acrogeria
Excessive wrinkled skin, Skin ulcer ORPHA:2500
Late-Onset Familial Hypoaldosteronism
Failure to thrive, Elevated serum 11-deoxycortisol, Increased circulating renin level, Hyponatrem... ORPHA:556037
Dubowitz Syndrome
Sparse scalp hair, Inguinal hernia, Short stature, Hypocholesterolemia, Postnatal growth retardat... OMIM:223370
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:619051
Coronary Arterial Fistula
Bacterial endocarditis, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Paten... ORPHA:2041
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:252920
Combined Immunodeficiency Due To Dock8 Deficiency
Skin ulcer, Anal canal squamous carcinoma ORPHA:217390
Dermatoosteolysis, Kirghizian Type
Skin ulcer OMIM:221810
Hyperkeratosis Lenticularis Perstans
Skin ulcer ORPHA:409
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Prolidase Deficiency
High palate, Petechiae, Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransfera... OMIM:170100
Early-Onset Familial Hypoaldosteronism
Failure to thrive, Elevated serum 11-deoxycortisol, Increased circulating renin level, Hyponatrem... ORPHA:556030
Neuraminidase Deficiency
Hepatomegaly, Cardiomyopathy, Cardiomegaly, Splenomegaly OMIM:256550
Kaufman Oculocerebrofacial Syndrome
Failure to thrive, Sparse hair, Sparse eyebrow, Short stature, Hypocholesterolemia OMIM:244450
Adenocarcinoma Of The Anal Canal
Neoplasm of the rectum, Neoplasm of the liver, Intestinal bleeding, Anal canal adenocarcinoma, Re... ORPHA:424016
Chilblain Lupus
Skin ulcer ORPHA:90280
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Skin ulcer, Purpura ORPHA:743
Hereditary Sensory And Autonomic Neuropathy Type 1
Skin ulcer, Penetrating foot ulcers, Gastroesophageal reflux ORPHA:36386
Mandibuloacral Dysplasia With Type A Lipodystrophy
Sparse scalp hair, Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck,... OMIM:248370
Gaucher Disease, Type Iiic
Mitral stenosis, Aortic valve calcification, Hepatomegaly, Splenomegaly, Mitral valve calcificati... OMIM:231005
X-Linked Agammaglobulinemia
Skin ulcer, Malabsorption, Hepatitis, Glossoptosis ORPHA:47
Polyarteritis Nodosa
Skin ulcer, Abnormality of the gastrointestinal tract, Erythema ORPHA:767
Aplasia Cutis-Myopia Syndrome
Skin ulcer ORPHA:1117
Abetalipoproteinemia
Failure to thrive, Abnormal circulating apolipoprotein concentration, Hyperbilirubinemia, Steator... ORPHA:14
Necrobiosis Lipoidica
Skin ulcer, Erythema ORPHA:542592
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Cantu Syndrome
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion, Cardiomegaly OMIM:239850
Brooke-Spiegler Syndrome
Skin ulcer, Abnormality of the sublingual glands, Salivary gland neoplasm, Abnormality of the sub... ORPHA:79493
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect, Patent forame... ORPHA:439
Hemochromatosis, Type 1
Hepatomegaly, Cardiomyopathy, Cardiomegaly, Splenomegaly OMIM:235200
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Cardiomegaly OMIM:255120
Pyoderma Gangrenosum
Skin ulcer, Skin vesicle, Inflammation of the large intestine ORPHA:48104
Ollier Disease
Skin ulcer ORPHA:296
Refsum Disease, Classic
Cardiomyopathy, Cardiomegaly OMIM:266500
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Mitral valve prolapse, Abnormal atrioventricular valve morphology, Aortic valve stenosis, Cardiom... ORPHA:324410
Gm1 Gangliosidosis
Gastroesophageal reflux, Inguinal hernia, Macroglossia, Splenomegaly, Aplasia/Hypoplasia of the a... ORPHA:354
Takayasu Arteritis
Skin ulcer, Gastrointestinal infarctions ORPHA:3287
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Pyoderma gangrenosum OMIM:616576
Dominant Beta-Thalassemia
Splenomegaly, Pallor, Cirrhosis, Chronic hepatitis, Hepatocellular carcinoma, Hepatosplenomegaly,... ORPHA:231226
Glycogen Storage Disease Of Heart, Lethal Congenital
Biventricular hypertrophy, Cardiomyopathy, Cardiomegaly OMIM:261740
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Skin ulcer, Crohn's disease ORPHA:69126
Diffuse Cutaneous Systemic Sclerosis
Malabsorption, Gastroesophageal reflux, Xerostomia, Dysphagia, Skin ulcer ORPHA:220393
Hypoglossia-Hypodactyly Syndrome
High palate, Anal atresia, Aplasia/Hypoplasia of the tongue, Cleft palate, Death in infancy, Jeju... ORPHA:989
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Cardiomegaly OMIM:105210
Flynn-Aird Syndrome
Skin ulcer ORPHA:2047
Hereditary Spherocytosis
Cholelithiasis, Hepatomegaly, Splenomegaly, Pallor, Skin ulcer, Jaundice ORPHA:822
Beta-Thalassemia Major
Hepatomegaly, Splenomegaly, Pallor, Cirrhosis, Hepatosplenomegaly, Hepatocellular carcinoma, Hepa... ORPHA:231214
Toxic Epidermal Necrolysis
Malabsorption, Pancreatitis, Acute hepatic failure, Tracheoesophageal fistula, Erythema, Elevated... ORPHA:537
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomegaly ORPHA:42
Autosomal Dominant Epidermolytic Ichthyosis
Skin ulcer ORPHA:312
Acrodermatitis Enteropathica
Malabsorption, Erythema, Dry skin, Glossitis, Furrowed tongue, Skin ulcer ORPHA:37
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly ORPHA:99931
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly OMIM:201475
Prolidase Deficiency
Hepatomegaly, Splenomegaly, Erythema, Dry skin, Skin ulcer ORPHA:742
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Atrioventricular canal defect, Enlarged kidney, Ventricular septal defect, Cardiome... OMIM:306955
Bare Lymphocyte Syndrome, Type I
Skin ulcer OMIM:604571
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Dyskeratosis Congenita
Neoplasm of the pancreas, Malabsorption, Hepatomegaly, Hepatic failure, Splenomegaly, Tracheoesop... ORPHA:1775
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome
Skin ulcer ORPHA:2218
Infantile Systemic Hyalinosis
Skin ulcer, Malabsorption, Abnormality of the gastrointestinal tract, Steatorrhea ORPHA:2176
Werner Syndrome
Miscarriage, Lack of skin elasticity, Neoplasm of the small intestine, Skin ulcer, Gastrointestin... ORPHA:902
Microscopic Polyangiitis
Pancreatitis, Peritonitis, Erythema, Gastrointestinal infarctions, Skin ulcer, Gastrointestinal h... ORPHA:727
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Overriding aorta, Cardiomegaly OMIM:617022
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:616897
Complete Atrioventricular Septal Defect
Hepatomegaly, Primum atrial septal defect, Right ventricular hypertrophy, Displacement of the pap... ORPHA:1329
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia, Nail dystrophy ORPHA:31150
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Ventricular septal defect, Ab... ORPHA:363705
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Skin ulcer, Hepatosplenomegaly ORPHA:86884
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly OMIM:618798
Cirrhotic Cardiomyopathy
Right atrial enlargement, Hepatomegaly, Left ventricular hypertrophy, Left atrial enlargement, Ca... ORPHA:57777
Acquired Purpura Fulminans
Macular purpura, Pyoderma gangrenosum, Hepatic failure ORPHA:49566
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Smith-Lemli-Opitz Syndrome
Failure to thrive, Elevated 7-dehydrocholesterol, Short stature, Hypocholesterolemia, Hypoalbumin... OMIM:270400
Systemic Sclerosis
Intestinal bleeding, Gastroesophageal reflux, Abnormal stomach morphology, Barrett esophagus, Abn... ORPHA:90291
Adult Polyglucosan Body Disease
Skin ulcer ORPHA:206583
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Secondary hyperaldosteronism, Decreased prealbumin... ORPHA:90363
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Pyoderma gangrenosum, Splenomegaly OMIM:150550
Dermatoosteolysis, Kirghizian Type
Skin ulcer ORPHA:1657
Familial Multiple Nevi Flammei
Skin ulcer ORPHA:624
Catastrophic Antiphospholipid Syndrome
Skin ulcer, Gastrointestinal infarctions, Miscarriage ORPHA:464343
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Skin ulcer OMIM:613640
Pseudo-Torch Syndrome 3
Cardiomegaly OMIM:618886
Necrotizing Enterocolitis
Peritonitis, Gastroschisis ORPHA:391673
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart morphology OMIM:114620
Symptomatic Form Of Hemochromatosis Type 1
Hepatomegaly, Cardiomyopathy, Cardiomegaly, Splenomegaly ORPHA:465508
Autosomal Dominant Hyper-Ige Syndrome
Skin ulcer, Skin vesicle, Cleft palate ORPHA:2314
Attenuated Chédiak-Higashi Syndrome
Skin ulcer ORPHA:352723
Fucosidosis
Hepatomegaly, Cardiomegaly ORPHA:349
Naxos Disease
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Dilated ca... OMIM:601214
Sickle Cell Anemia
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:603903
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Skin ulcer, Erythema ORPHA:659
Calciphylaxis
Skin ulcer ORPHA:280062
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Elevated hepatic transaminase, Purpura, Esophagea... OMIM:615688
Cantú Syndrome
Abnormal heart valve morphology, Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:1517
Giant Cell Arteritis
Skin ulcer, Glossitis, Gastrointestinal infarctions, Hepatic failure ORPHA:397
Hajdu-Cheney Syndrome
Hepatomegaly, Cleft palate, Inguinal hernia, Intestinal malrotation, Splenomegaly, Dry skin, Umbi... ORPHA:955
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly ORPHA:255249
Chronic Mucocutaneous Candidiasis
Skin ulcer, Hepatitis, Erythema ORPHA:1334
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Cardiomegaly OMIM:619259
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Partial atrioventricular canal defect, Bicuspid aortic valve, Atrial septal defect, Secundum atri... OMIM:620066
Constricting Bands, Congenital
Cleft palate, Gastroschisis, Bladder exstrophy, Omphalocele OMIM:217100
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly ORPHA:308552
Mogs-Cdg
Atrial septal defect, Hepatomegaly, Left ventricular hypertrophy, Hepatosplenomegaly, Cardiomegaly ORPHA:79330
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Cardiomegaly OMIM:208000
Sandhoff Disease
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly OMIM:268800
Pgm3-Cdg
High palate, Gastroesophageal reflux, Esophagitis, Skin ulcer, Lactose intolerance ORPHA:443811
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly, Enlarged kidney OMIM:608836
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:608013
Autosomal Dominant Severe Congenital Neutropenia
Recurrent infection of the gastrointestinal tract, Pyoderma gangrenosum ORPHA:486
Histiocytosis-Lymphadenopathy Plus Syndrome
Atrial septal defect, Hepatomegaly, Splenomegaly, Pulmonic stenosis, Hepatosplenomegaly, Ventricu... OMIM:602782
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Penetrating foot ulcers OMIM:118301
Congenital Disorder Of Glycosylation, Type It
Ventricular septal defect, Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly OMIM:614921
Juvenile Dermatomyositis
Erythema, Dry skin, Dysphagia, Skin ulcer, Gastrointestinal hemorrhage ORPHA:93672
Lethal Acantholytic Erosive Disorder
Cardiomyopathy, Cardiomegaly ORPHA:158687
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Right ventricular hypertrophy ORPHA:268
Duplication Of Urethra
Anal atresia, Anal fistula, Rectourethral fistula, Anorectal anomaly, Gastroschisis ORPHA:237
Fucosidosis
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:230000
Acrofacial Dysostosis 1, Nager Type
Cleft palate, Velopharyngeal insufficiency, Aganglionic megacolon, Gastroschisis OMIM:154400
Livedoid Vasculopathy
Skin ulcer, Macular purpura, Ecchymosis ORPHA:542643
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Atrial septal defect, Left ventricular hypertrophy, Mitral valve prolapse,... OMIM:245600
Familial Keratoacanthoma
Skin ulcer ORPHA:493
Ectodermal Dysplasia-Blindness Syndrome
Skin ulcer ORPHA:1806
Truncus Arteriosus
Atrial septal defect, Right ventricular hypertrophy, Pulmonic stenosis, Tetralogy of Fallot, Vent... ORPHA:3384
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Cardiomyopathy, Abnormal myocardium morphology, Cardiomegaly ORPHA:228308
Fusariosis
Skin ulcer, Peritonitis, Abnormality of the spleen, Abnormality of the liver ORPHA:228119
Absence Of The Pulmonary Artery
Abnormal cardiac septum morphology, Atrial septal defect, Tetralogy of Fallot, Truncus arteriosus... ORPHA:980
Malakoplakia
Skin ulcer, Neoplasm of the rectum, Neoplasm of the colon ORPHA:556
Hereditary Acrokeratotic Poikiloderma
Xerostomia, Erythema, Abnormality of the gastrointestinal tract, Skin ulcer, Ankyloglossia, Oral ... ORPHA:2907
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cholelithiasis, Splenomegaly, Hepatosplenomegaly, Abnormality of the spleen, Esophageal varix, Ec... ORPHA:2072
Congenital Tracheomalacia
Atrial septal defect, Single ventricle, Tetralogy of Fallot, Ventricular septal defect, Partial a... ORPHA:95430
Neutrophilic Dermatosis, Acute Febrile
Erythema, Pyoderma gangrenosum OMIM:608068
Leukocyte Adhesion Deficiency, Type I
Skin ulcer, Rectal abscess OMIM:116920
Smith-Lemli-Opitz Syndrome
Gastroesophageal reflux, Cleft palate, Bifid tongue, Pyloric stenosis, Abnormality of the gallbla... ORPHA:818
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Hepatomegaly, Right ventricular hypertrophy, Atrial septal dilatation, ... ORPHA:1677
Iniencephaly
Anal atresia, Duodenal atresia, Gastroschisis, Omphalocele ORPHA:63259
Immunoglobulin A Vasculitis
Erythema, Gastrointestinal infarctions, Purpura, Skin ulcer, Gastrointestinal hemorrhage ORPHA:761
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cardiomegaly OMIM:618143
Chronic Graft Versus Host Disease
Gastroesophageal reflux, Xerostomia, Abnormal esophagus morphology, Erythema, Esophageal strictur... ORPHA:99921
Incontinentia Pigmenti
Skin ulcer, Erythema, Umbilical hernia ORPHA:464
Glycogen Storage Disease Ii
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:232300
Meige Disease
Skin ulcer ORPHA:90186
Adult Syndrome
Skin ulcer, Dry skin ORPHA:978
Mucopolysaccharidosis Type 3
Abnormal mitral valve morphology, Hepatomegaly, Splenomegaly, Abnormal aortic valve morphology, A... ORPHA:581
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly ORPHA:2463
Oculocerebrorenal Syndrome Of Lowe
Malabsorption, Narrow palate, Gastroesophageal reflux, Inguinal hernia, Death in infancy, Umbilic... ORPHA:534
Wiskott-Aldrich Syndrome
Petechiae, Hematemesis, Inflammation of the large intestine, Hematochezia, Purpura, Skin ulcer ORPHA:906
Tetraamelia Syndrome 1
Asplenia, Anal atresia, Cleft palate, Gastroschisis OMIM:273395
Congenital Total Pulmonary Venous Return Anomaly
Double outlet right ventricle, Cardiac total anomalous pulmonary venous connection, Atrial septal... ORPHA:99125
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatosplenomegaly, Hepatomegaly, Cardiomegaly OMIM:618278
Sweet Syndrome
Skin vesicle, Pyoderma gangrenosum, Inflammation of the large intestine ORPHA:3243
Primary Sjögren Syndrome
Chronic active hepatitis, Chronic hepatitis, Xerostomia, Dry skin, Purpura, Skin ulcer, Parotitis... ORPHA:289390
Granulomatosis With Polyangiitis
Pancreatitis, Intestinal obstruction, Purpura, Skin ulcer, Gastrointestinal hemorrhage ORPHA:900
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Splenomegaly, Enlarged kidney, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:252500
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Right ventricular hypertroph... OMIM:300967
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Skin ulcer OMIM:245660
Plague
Hepatomegaly, Enterocolitis, Hematemesis, Splenomegaly, Dry skin, Inflammation of the large intes... ORPHA:707
Blau Syndrome
Splenomegaly, Xerostomia, Erythema, Dry skin, Abnormal salivary gland morphology, Skin ulcer, Abn... ORPHA:90340
Paternal Uniparental Disomy Of Chromosome 6
Ventricular septal defect, Hepatomegaly, Cardiomegaly ORPHA:96191
Charcot-Marie-Tooth Disease Type 4B2
Penetrating foot ulcers, Tongue atrophy ORPHA:99956
Chime Syndrome
Skin ulcer, Erythema, Cleft palate ORPHA:3474
Ogden Syndrome
Bicuspid aortic valve, Secundum atrial septal defect, Atrial septal defect, Enlarged kidney, Vent... OMIM:300855
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Dermatomyositis
Skin ulcer, Erythema, Dry skin, Gastrointestinal stroma tumor ORPHA:221
Granulomatosis With Polyangiitis
Skin ulcer OMIM:608710
Histiocytoid Cardiomyopathy
Ventricular septal defect, Hepatomegaly, Cardiomegaly ORPHA:137675
Beckwith-Wiedemann Syndrome
Hepatomegaly, Pancreatic hyperplasia, Enlarged kidney, Cardiomyopathy, Cardiomegaly OMIM:130650
Bohring-Opitz Syndrome
Abnormal cardiac septum morphology, Cardiomegaly ORPHA:97297
Glycogen Storage Disease Due To Acid Maltase Deficiency
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly ORPHA:365
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Skin ulcer, Scaling skin, Dry skin ORPHA:2526
Tropical Endomyocardial Fibrosis
Hepatomegaly, Right ventricular cardiomyopathy, Splenomegaly, Restrictive cardiomyopathy, Endocar... ORPHA:75565
Ehlers-Danlos Syndrome, Classic-Like, 2
High palate, Inguinal hernia, Redundant skin, Ventral hernia, Umbilical hernia OMIM:618000
Amoebiasis Due To Free-Living Amoebae
Skin ulcer ORPHA:68
Angioosteohypertrophic Syndrome
Skin ulcer, Gastrointestinal hemorrhage ORPHA:2346
Parkes Weber Syndrome
Skin ulcer, Scaling skin ORPHA:90307
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Xerostomia, Elevated hepatic transaminase, Abnormality of the anus, Skin ulcer, Intestinal perfor... ORPHA:95455
Atypical Werner Syndrome
Skin ulcer, Lack of skin elasticity, Neoplasm of the small intestine, Hepatic steatosis ORPHA:79474
Aicardi-Goutières Syndrome
Hepatosplenomegaly, Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:51
Leprosy
Abnormality of the spleen, Penetrating foot ulcers, Acral ulceration, Abnormality of the liver ORPHA:548
Cushing Disease
Skin ulcer, Purpura, Striae distensae, Ecchymosis ORPHA:96253
Cushing Syndrome Due To Ectopic Acth Secretion
Pancreatoblastoma, Purpura, Striae distensae, Ecchymosis, Neoplasm of the stomach, Small intestin... ORPHA:99889
Blau Syndrome
Skin ulcer OMIM:186580
Liver Disease, Severe Congenital
Atrial septal defect, Hepatomegaly, Splenomegaly, Ventricular septal defect, Subvalvular aortic s... OMIM:619991
Beckwith-Wiedemann Syndrome
Hepatomegaly, Splenomegaly, Enlarged kidney, Visceromegaly, Hypertrophic cardiomyopathy, Cardiome... ORPHA:116
Yunis-Varon Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Cardiomyopathy, Cardiomegaly ORPHA:3472
Williams Syndrome
Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrial septal defect, Overriding aorta... ORPHA:904
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:256040
Classical-Like Ehlers-Danlos Syndrome Type 2
Cellulitis, Alopecia, Inguinal hernia, Widened atrophic scar, Ventral hernia, Hypertriglyceridemi... ORPHA:536532
Singleton-Merten Syndrome 1
Aortic valve calcification, Aortic valve stenosis, Mitral valve calcification, Subvalvular aortic... OMIM:182250
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Pericardial effusion, Myocardial calcification, Cardiomegaly ORPHA:51608
Leukocyte Adhesion Deficiency
Peritonitis, Pyoderma gangrenosum, Perianal abscess ORPHA:2968
Split Cord Malformation
Penetrating foot ulcers ORPHA:573278

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Aebp1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Aebp1.

No publications found that use IMPC mice or data for Aebp1.

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MGI Allele Allele Type Produced
Aebp1tm209963(L1L2_Pgk_P) Reporter-tagged deletion allele (with selection cassette) Targeting vectors
Aebp1tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Targeting vectors, ES Cells
Aebp1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Aebp1tm1.1(KOMP)Wtsi Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue

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