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Gene: Adamtsl3 MGI:3028499

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Gene Summary

Name:
ADAMTS-like 3
Synonyms:
9230119C12Rik,  punctin-2

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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 sternum morphology Adamtsl3em1(IMPC)Tcp HOM Late adult 0.00
abnormal ovary morphology Adamtsl3em1(IMPC)Tcp HOM Late adult 0.00
enlarged urinary bladder Adamtsl3em1(IMPC)Tcp HOM Late adult 0.00
small uterus Adamtsl3em1(IMPC)Tcp HOM Late adult 0.00
small spleen Adamtsl3em1(IMPC)Tcp HOM Early adult 0.00
enlarged lymph nodes Adamtsl3em1(IMPC)Tcp HOM Early adult 0.00
enlarged urinary bladder Adamtsl3em1(IMPC)Tcp HOM Early adult 0.00
enlarged heart Adamtsl3em1(IMPC)Tcp HOM Late adult 0.00

Download data as:  TSV  XLS

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lacZ Expression

Expression data not available

Associated Images

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

Eye Morphology

Images Ophthalmoscopy

158 Images

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Eye Morphology

Images Ophthalmoscopy

103 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Eye Morphology

Images Slit Lamp

103 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Histopathology

Images

3 Images

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Electrocardiogram (ECG)

Waveform Image

1 Images

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Eye Morphology

Images Slit Lamp

3 Images

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Human diseases caused by Adamtsl3 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 Adamtsl3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Jaundice, Lymphadenopathy, Anemia OMIM:312500
Ethanolaminosis
Cardiomegaly OMIM:227150
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Cardiomyopathy, Dilated, 1I
Reduced left ventricular ejection fraction, Reduced systolic function, Congestive heart failure, ... OMIM:604765
46,Xy Sex Reversal 3
Elevated circulating luteinizing hormone level, Penoscrotal hypospadias, Ambiguous genitalia, Cli... OMIM:612965
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
Satoyoshi Syndrome
Hypoplasia of the ovary, Abnormality of the humerus, Abnormal metaphysis morphology, Genu varum, ... ORPHA:3130
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia... OMIM:619126
46,Xx Testicular Difference Of Sex Development
Polycystic ovaries, Male hypogonadism, Decreased testicular size, Ambiguous genitalia ORPHA:393
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Syndactyly Type 4
Camptodactyly of finger, Hand polydactyly, Short tibia, Toe syndactyly, 1-5 finger syndactyly, Fo... ORPHA:93405
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Ectopic kidney, Unilateral renal agenesis, Hypoplasia of the uterus, Abnormal rib morphology, Azo... OMIM:601076
Gonadoblastoma
Dysgerminoma, Ambiguous genitalia, Gonadal dysgenesis with female appearance, male, Abnormality o... ORPHA:206484
Spondyloepimetaphyseal Dysplasia, Missouri Type
Short lower limbs, Genu varum, Flattened epiphysis, Metaphyseal irregularity, Flared metaphysis, ... ORPHA:93356
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Aplasia/Hypoplasia of metatarsal bones, Genu varum, Metaphyseal widening, Broad femoral metaphyse... ORPHA:2502
Premature Ovarian Failure 7
Clitoral hypertrophy, Elevated circulating follicle stimulating hormone level, Hypoplasia of the ... OMIM:612964
Ovarian Dysgenesis 2
Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:300510
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis with female appearance, male, Gonadoblastoma, Testicular dysgenesis, Hypoplasi... ORPHA:168563
Diethylstilbestrol Syndrome
Cryptorchidism, Micropenis, Abnormality of the uterus, Abnormal testis morphology, Testicular dys... ORPHA:1916
46,Xy Sex Reversal 7
Dysgerminoma, Gonadoblastoma, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Streak ... OMIM:233420
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the ovary, Cryptorchidism, Decreased testicular size, Micropenis, Hypoplasia of the... OMIM:614841
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Decreased testicular size, Hypogonadism ORPHA:1875
Blount Disease
Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis morphology, Tibial bowing ORPHA:2768
Perrault Syndrome 3
Elevated circulating follicle stimulating hormone level, Hypoplasia of the uterus, Hypergonadotro... OMIM:614129
Ovarian Dysgenesis 7
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:618117
Testicular Agenesis
Absent testis, Micropenis, Urethrovaginal fistula, Ambiguous genitalia, Urogenital sinus anomaly,... ORPHA:325124
Cardiomyopathy, Familial Hypertrophic, 27
Cardiac arrest, Left ventricular diastolic dysfunction, Cardiomyocyte hypertrophy, Concentric hyp... OMIM:618052
Perrault Syndrome 6
Streak ovary, Hypoplasia of the uterus OMIM:617565
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Hepatomegaly, Microcytic anemia, Lymphadenopathy, Splenomegaly OMIM:618852
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Increased size of the clitoris, Abnormality of the ovary, Deformed humerus, D... ORPHA:2975
Ovarian Dysgenesis 5
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:617690
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cryptorchidism, Atrial septal defect, Perimembranous ventricular septal defect, Hypertrophic card... OMIM:620135
Premature Ovarian Failure 13
Elevated circulating follicle stimulating hormone level, Hypoplasia of the uterus OMIM:617442
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:612310
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Polycystic ovaries, Hypergonadotropic hypogonadism, Dilated cardiomyopathy, Aplasia of the phalan... ORPHA:2229
Premature Ovarian Failure 18
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:619203
Mast Cell Sarcoma
Mastocytosis, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly ORPHA:66661
Acromesomelic Dysplasia 3
Short finger, Elevated circulating luteinizing hormone level, Aplasia of the proximal phalanx of ... OMIM:609441
Ovarian Dysgenesis 9
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:619665
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Hypoplasia of the uterus OMIM:277000
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Micropenis, Hypoplasia of the uterus, Azoospermia, Hyp... OMIM:614837
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Foot oligodactyly, Short tibia, Syndactyly, Fibular aplasia, Hand oligodactyly, Tibial bowing OMIM:246570
Satoyoshi Syndrome
Short metatarsal, Short metacarpal, Hypoplasia of the uterus, Osteolytic defects of the phalanges... OMIM:600705
Testicular Regression Syndrome
Decreased testicular size, Absent testis, Agonadism, Abnormal morphology of female internal genit... ORPHA:983
Seckel Syndrome 7
Hip dysplasia, Hypoplasia of the uterus, Short middle phalanx of the 5th finger, Abnormal carpal ... OMIM:614851
46,Xx Sex Reversal 2
Perineal hypospadias, Micropenis, Hypoplasia of the vagina, Hypoplasia of the uterus, Azoospermia... OMIM:278850
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Cardiomegaly OMIM:300886
Rudiger Syndrome
Micropenis, Short digit, Ovarian cyst, Bicornuate uterus, Ureterovesical stenosis OMIM:268650
Kimura Disease
Follicular hyperplasia, Lymphadenopathy, Eosinophilia ORPHA:482
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Atrial septal defect, Metaphyseal cupping, Short toe, Metaphyseal irregularity, Flar... OMIM:250220
Metaphyseal Dysplasia, Braun-Tinschert Type
Broad long bones, Broad femoral head, Broad radial metaphysis, Sclerosis of middle finger phalanx... ORPHA:85188
Acromesomelic Dysplasia 2C
Distal femoral bowing, Hip dislocation, Short thumb, Hypoplasia of the radius, Short tibia, Abnor... OMIM:201250
Spondyloepimetaphyseal Dysplasia, X-Linked
Broad long bones, Flared iliac wing, Metaphyseal irregularity, Cone-shaped epiphyses of the phala... OMIM:300106
Tetragametic Chimerism
Perineal hypospadias, Cryptorchidism, Micropenis, Ambiguous genitalia, Gonadal dysgenesis with fe... ORPHA:199310
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Absent tibia, Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication OMIM:188740
46,Xx Ovotesticular Difference Of Sex Development
Cryptorchidism, Abnormal morphology of female internal genitalia, Ambiguous genitalia, Polycystic... ORPHA:2138
Weismann-Netter Syndrome
Abnormality of femur morphology, Abnormality of the humerus, Abnormality of fibula morphology, Bo... ORPHA:3344
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis ORPHA:242
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Osebold-Remondini Syndrome
Type A brachydactyly, Hypoplasia of the radius, Short tibia, Broad toe, Broad finger, Short toe, ... OMIM:112910
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Abnormal vagina morphology, Hypoplasia of the uterus, Brachydactyly ORPHA:247768
46,Xy Sex Reversal 11
Gonadal dysgenesis with female appearance, male, Urogenital sinus anomaly, Elevated circulating f... OMIM:273250
Isolated Right Ventricular Hypoplasia
Systolic heart murmur, Clubbing, Right ventricular failure, Atrial septal defect, Right-to-left s... ORPHA:439
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Absent tonsils, Hepatomegaly, Lymphopenia, Aplasia of the thymus, Eo... OMIM:602450
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Metaphyseal chondrodysplasia, Arrhythmia, Short metacarpal, Short palm, Iliac crest ... ORPHA:93317
Fixed Subaortic Stenosis
Systolic heart murmur, Mitral regurgitation, Pulmonic stenosis, Paroxysmal atrial fibrillation, V... ORPHA:3092
Léri-Weill Dyschondrosteosis
Abnormality of the humerus, Short tibia, Dorsal subluxation of ulna, Diaphyseal thickening, Radia... ORPHA:240
Thrombocytopenia-Absent Radius Syndrome
Hip dislocation, Absent radius, Genu varum, Phocomelia, Aplasia of the uterus, Tetralogy of Fallo... ORPHA:3320
Acheiropodia
Aplasia of the ulna, Short humerus, Absent hand, Abnormal metaphysis morphology, Absent radius, A... ORPHA:931
Amed Syndrome, Digenic
Long thumb, Hypoplasia of the uterus OMIM:619151
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly, Syndactyly OMIM:613576
Leri-Weill Dyschondrosteosis
Abnormality of the humerus, Abnormal metatarsal morphology, Abnormal carpal morphology, Short tib... OMIM:127300
Fowler Urethral Sphincter Dysfunction Syndrome
Urinary retention, Abnormality of the ovary, Polycystic ovaries, Urinary incontinence, Abnormalit... ORPHA:2795
Coronary Arterial Fistula
Abnormal EKG, Pulmonary arterial hypertension, Systolic heart murmur, Continuous heart murmur, At... ORPHA:2041
Meckel Syndrome 12
Hypoplasia of the uterus, Rocker bottom foot, Vaginal atresia, Renal hypoplasia, Ureteral hypoplasia OMIM:616258
Perrault Syndrome 4
Hypoplasia of the ovary, Increased circulating gonadotropin level, Hypoplasia of the uterus, Bico... OMIM:615300
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Normosmic Congenital Hypogonadotropic Hypogonadism
Camptodactyly, Cryptorchidism, Hypoplasia of the ovary, Micropenis, Decreased testicular size, Br... ORPHA:432
Fraser-Like Syndrome
Overlapping toe, Ovarian cyst, Contracture of the proximal interphalangeal joint of the 2nd finger OMIM:229230
Cardiomyopathy, Familial Hypertrophic, 4
Cardiac arrest, Reduced left ventricular ejection fraction, Syncope, Right atrial enlargement, He... OMIM:115197
Attrv122I Amyloidosis
Abnormal EKG, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Arrhythmi... ORPHA:85451
46,Xy Sex Reversal 4
Hydronephrosis, Agonadism, Ureteropelvic junction obstruction, Hypoplasia of the uterus, Hypoplas... OMIM:154230
Leydig Cell Hypoplasia
Cryptorchidism, Micropenis, Ambiguous genitalia, Abnormal vas deferens morphology, Abnormal inter... ORPHA:755
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Cortical thickening of long bone diaphyses, Tibial bowing OMIM:166740
Arterial Calcification, Generalized, Of Infancy, 2
Mitral regurgitation, Reduced left ventricular ejection fraction, Sinus tachycardia, Hypertension... OMIM:614473
Granulomatous Slack Skin
Abnormal lymph node morphology, Acute kidney injury, Nephrocalcinosis ORPHA:33111
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Metaphyseal cupping, Flattened epiphysis, Ulnar bowing, Coxa vara, Flared iliac wing,... OMIM:602111
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Genu varum, Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Metaphy... OMIM:600785
Estrogen Resistance Syndrome
Breast hypoplasia, Hypoplasia of the uterus, Delayed epiphyseal ossification, Increased circulati... ORPHA:785
Ovarian Fibroma
Abnormality of the ovary, Gonadal calcification, Ovarian fibroma ORPHA:314473
Attrv30M Amyloidosis
Cardiomyopathy, Abnormal renal physiology, Cardiomegaly, Nephropathy ORPHA:85447
Estrogen Resistance
Polycystic ovaries, Hypoplasia of the uterus, Breast aplasia OMIM:615363
Microphthalmia, Syndromic 9
Hydronephrosis, Cryptorchidism, Pulmonic stenosis, Ventricular septal defect, Atrial septal defec... OMIM:601186
Fish-Eye Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:79292
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hydronephrosis, Beaded ribs, Fractured radius, Micropenis, Decreased fibular diameter, Ventricula... OMIM:616897
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged polycystic ovarie... ORPHA:90301
Microcephaly 20, Primary, Autosomal Recessive
Ureteral agenesis, Vaginal atresia, Hypoplasia of the uterus, Renal hypoplasia OMIM:617914
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormality of blood circulation, Abnormal ventriculoarteria... ORPHA:860
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Uruguay Faciocardiomusculoskeletal Syndrome
Camptodactyly of toe, Camptodactyly, Congenital hip dislocation, Hallux valgus, Left atrial enlar... OMIM:300280
Cantu Syndrome
Metaphyseal widening, Coxa valga, Erlenmeyer flask deformity of the femurs, Hypoplastic ischiopub... OMIM:239850
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Bilateral cryptorchidism, Patent foramen ovale, ... OMIM:618652
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Congenital adrenal hyperplasia, Decreased testicular size, Hypoplasia of the vagina, Clitoral hyp... OMIM:202010
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Decreased testicular size, Cryptorchidism, Microp... ORPHA:90796
Familial Atrial Myxoma
Bacterial endocarditis, Pulmonic valve myxoma, Tricuspid regurgitation, Congestive heart failure,... ORPHA:615
Ovarian Fibrothecoma
Abnormality of the ovary, Gonadal calcification, Ovarian fibroma, Abnormal endometrium morphology ORPHA:314478
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Hypertrophic cardiomyopathy OMIM:614096
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Metaphyseal cupping, Flat acetabular roof, Short ribs, Wide distal femoral metaphysis, Delayed ep... OMIM:613320
Infantile Sialic Acid Storage Disease
Hepatomegaly, Nephrotic syndrome, Metaphyseal irregularity, Cardiomegaly, Splenomegaly OMIM:269920
Leukocyte Adhesion Deficiency, Type Iii
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Abnormal ly... OMIM:612840
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Heparan sulfate excretion in urine, Hepatomegaly, Thickened ribs, ... OMIM:252920
Acheiropody
Aplasia of the ulna, Short humerus, Absent hand, Carpal bone aplasia, Absent radius, Aplasia of m... OMIM:200500
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Absent tibia, Bifid femur, Hand monodactyly, Foot monodactyly, Split hand OMIM:228250
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Popliteal Pterygium Syndrome
Cryptorchidism, Hypoplasia of the uterus, Hypoplastic labia majora, Small scrotum, Bifid scrotum,... OMIM:119500
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplastic... OMIM:619313
Neuraminidase Deficiency
Proteinuria, Cardiomyopathy, Hepatomegaly, Epiphyseal stippling, Urinary excretion of sialylated ... OMIM:256550
Hemochromatosis, Type 1
Testicular atrophy, Cardiomyopathy, Hepatomegaly, Splenomegaly, Azoospermia, Cardiomegaly, Hypogo... OMIM:235200
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Jaundice, Absent tonsils, Decreased proportion of CD3-positive T cells, Hepatomegaly, Lymphopenia... ORPHA:276
Partial Androgen Insensitivity Syndrome
Perineal hypospadias, Elevated circulating luteinizing hormone level, Micropenis, Ambiguous genit... ORPHA:90797
Renal And Mullerian Duct Hypoplasia
Horseshoe kidney, Anteriorly displaced urethral meatus, Hydrocele testis, Renal hypoplasia, Aplas... OMIM:266810
Mullerian Aplasia And Hyperandrogenism
Aplasia of the fallopian tube, Unilateral renal agenesis, Abnormal external genitalia, Aplasia of... OMIM:158330
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Hepatomegaly, Complete atrioventricular canal defect, Abnormal EKG... ORPHA:1329
Myoectodermal Gonadal Dysgenesis Syndrome
Elevated circulating luteinizing hormone level, Bifid distal phalanx of toe, Hip dysplasia, Eleva... OMIM:618419
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Cardiomegaly, Aortic valve stenosis, Mitral valve prolapse, Macroorchidism, Abnormal thumb morpho... ORPHA:324410
Mulibrey Nanism
Hepatomegaly, Thickened cortex of long bones, Pericardial constriction, Myocardial fibrosis, Card... OMIM:253250
Cirrhotic Cardiomyopathy
Left ventricular diastolic dysfunction, Third heart sound, Global systolic dysfunction, Reduced l... ORPHA:57777
Complete Androgen Insensitivity Syndrome
Aplasia/Hypoplasia of the fallopian tube, Abnormal morphology of female internal genitalia, Femal... ORPHA:99429
Renal Cysts And Diabetes Syndrome
Pancreatic hypoplasia, Proteinuria, Decreased numbers of nephrons, Stage 5 chronic kidney disease... OMIM:137920
Linear Skin Defects With Multiple Congenital Anomalies 1
Micropenis, Ventricular septal defect, Atrial septal defect, Clitoral hypertrophy, Hypoplasia of ... OMIM:309801
Stormorken Syndrome
Hypoplastic spleen, Asplenia, Anemia, Thrombocytopenia, Hematuria, Howell-Jolly bodies OMIM:185070
Congenital Toxoplasmosis
Cardiomegaly, Hepatomegaly ORPHA:858
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Clinodactyly, Short distal phalanx of finger, Decreased response to growth hormone stimulation te... OMIM:615866
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy OMIM:600649
Gracile Bone Dysplasia
Hypoplastic spleen, Micropenis, Asplenia OMIM:602361
Aromatase Deficiency
Ovarian cyst, Female pseudohermaphroditism, Hypergonadotropic hypogonadism OMIM:613546
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Short finger, Abnormal calcification of the carpal bones, Triangular shaped distal phalanges of t... OMIM:271665
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Flat acetabular roof, Advanced ossification of carpal bones, Metaphyseal striations, Irregular ep... OMIM:610442
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly OMIM:619064
Histiocytosis-Lymphadenopathy Plus Syndrome
Camptodactyly of finger, Ventricular septal defect, Atrial septal defect, Hepatomegaly, Flexion c... OMIM:602782
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Pure red cell aplasia, Autoimmune thrombocy... OMIM:613179
Cardiac-Urogenital Syndrome
Hypoplastic left heart, Ambiguous genitalia, Enlarged kidney, Ventricular septal defect, Atrial s... OMIM:618280
Familial Idiopathic Dilatation Of The Right Atrium
Paroxysmal atrial fibrillation, Reduced left ventricular ejection fraction, Syncope, Palpitations... ORPHA:1677
Lethal Congenital Contracture Syndrome 10
Hypoplasia of the thymus, Ventricular septal defect, Broad ribs, Overriding aorta, Short long bon... OMIM:617022
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve leaflet morphology, Tricuspid valve prolapse, Hepatomegaly, Right ventri... ORPHA:555874
Danon Disease
Ventricular tachycardia, Wolff-Parkinson-White syndrome, Syncope, Severely reduced left ventricul... OMIM:300257
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Hepatomegaly, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Cardiomegaly, E... OMIM:212140
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Oligodactyly, Camptodactyly, 3-4 finger syndactyly, Absent tibia, Absent toe, Short tibia, Short ... OMIM:612576
Naxos Disease
Prolonged QRS complex, Abnormal morphology of right ventricular trabeculae, Right ventricular car... OMIM:601214
Timothy Syndrome
Ventricular septal defect, Tetralogy of Fallot, Cutaneous syndactyly, Patent foramen ovale, Cardi... OMIM:601005
Bardet-Biedl Syndrome 1
Postaxial foot polydactyly, Decreased testicular size, Micropenis, Hypogonadism, Postaxial polyda... OMIM:209900
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy OMIM:614702
Cantú Syndrome
Short distal phalanx of finger, Abnormal metaphysis morphology, Broad ribs, Coxa valga, Finger sy... ORPHA:1517
Lumbar Syndrome
Cryptorchidism, Micropenis, Ambiguous genitalia, Hypoplastic labia majora, Bifid uterus, Bladder ... ORPHA:83628
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Proximal renal tubular acidosis, Proteinuria, Nephrocalcinosis, Chronic kidney disease, Hypoparat... OMIM:146255
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Increased size of the clitoris, Abnormal metacarpophalangeal joint morphology, Ambiguous genitali... ORPHA:95699
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Hydronephrosis, Short ribs, Missing ribs, Thin ribs, Absent external genitalia, Urethral atresia,... OMIM:271520
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Polycystic kidney dysplasia, Hydronephrosis, Parathyroid hypoplasia, Hypoparathyroidism, Renal in... ORPHA:2237
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Abnormality of the Leydig cells, Micropenis, Elevated circulating follicle stimulating hormone le... OMIM:228300
Refsum Disease, Classic
Short fourth metatarsal, Cardiomyopathy, Abnormal renal physiology, Cardiomegaly OMIM:266500
Bent Bone Dysplasia Syndrome 2
Short 1st metacarpal, Short lower limbs, Shawl scrotum, Micropenis, Atrial septal defect, Short r... OMIM:620076
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Cardiomegaly, Ventricular hypertrophy OMIM:619051
Alpha-N-Acetylgalactosaminidase Deficiency
Oligosacchariduria, Cardiomegaly ORPHA:3137
Lethal Acantholytic Erosive Disorder
Hypovolemic shock, Camptodactyly of toe, 2-3 finger syndactyly, 3-4 finger syndactyly, Cardiomyop... ORPHA:158687
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Horseshoe kidney, Ectopic kidney, Unilateral renal agenesis, Aplasia of... ORPHA:3109
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Ambiguous genitalia, Horseshoe kidney, Fused labia majora, Hypoplasia of the uterus, Rocker botto... OMIM:201750
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
Woodhouse-Sakati Syndrome
Decreased testicular size, Micropenis, Hypoplasia of the fallopian tube, Hypoplasia of the uterus... OMIM:241080
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Long fibula, Abnormal metaphysis morphology ORPHA:935
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Broad distal phalanges of all fingers, Hip dislocation, Hallux valgus, Spatulate thumbs, Atrial s... OMIM:245600
Thrombocytopenia-Absent Radius Syndrome
Hip dislocation, Short thumb, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallo... OMIM:274000
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Hypoplasminogenemia
Abnormality of the ovary, Cervicitis, Nephrolithiasis, Abnormal fallopian tube morphology ORPHA:722
Woodhouse-Sakati Syndrome
Decreased testicular size, Micropenis, Hypogonadism, Hypoplasia of the fallopian tube, Hypoplasia... ORPHA:3464
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Reduced left ventricular ejection fraction, Pulmonary venous hypertension,... ORPHA:75565
Symptomatic Form Of Hfe-Related Hemochromatosis
Abnormal metacarpophalangeal joint morphology, Testicular atrophy, Cardiomyopathy, Hepatomegaly, ... ORPHA:465508
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Dicarboxylic aciduria, Hepatomegaly, Renal tubular acidosis OMIM:255120
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomegaly, Dicarboxylic aciduria, Hepatomegaly, Elevated urinary 3-hydroxybutyric acid ORPHA:42
Mogs-Cdg
Hepatosplenomegaly, External genital hypoplasia, Atrial septal defect, Left ventricular hypertrop... ORPHA:79330
Aorta Coarctation
Pulmonary arterial hypertension, Hypoplastic left heart, Tetralogy of Fallot, Hypertension, Perim... ORPHA:1457
Mirage Syndrome
Hypoplastic spleen, Leukopenia, Anemia, Microphallus, Lymphopenia, Thrombocytopenia, Hypospadias OMIM:617053
Oeis Complex
Hydronephrosis, Cryptorchidism, Congenital hip dislocation, Absent scrotum, Micropenis, Ambiguous... OMIM:258040
Familial Adenomatous Polyposis 4
Ovarian cyst, Uterine leiomyoma, Renal cyst OMIM:617100
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Congenital adrenal hyperplasia, Elevated circulating luteinizing hormone level, Micropenis, Ambig... ORPHA:90793
Blepharophimosis, Ptosis, And Epicanthus Inversus
Increased circulating gonadotropin level, Hypoplasia of the uterus OMIM:110100
Heterotaxy, Visceral, 1, X-Linked
Hypoplastic left heart, Enlarged kidney, Ventricular septal defect, Atrial septal defect, Atriove... OMIM:306955
Beck-Fahrner Syndrome
Cardiomegaly, Hip dysplasia, Ventricular septal defect OMIM:618798
Leigh Syndrome With Nephrotic Syndrome
Tubulointerstitial nephritis, Renal cyst, Heavy proteinuria, Nephrotic syndrome, Renal tubular ac... ORPHA:255249
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Polycystic kidney dysplasia, Tapered toe, Hydronephrosis, Enlarged kidney, Renal insufficiency, H... OMIM:608836
Glycogen Storage Disease Of Heart, Lethal Congenital
ST segment elevation, Prolonged QRS complex, Hypotension, Enlarged kidney, Increased myocardial g... OMIM:261740
Phocomelia, Schinzel Type
Aplasia of the ulna, Foot oligodactyly, Cryptorchidism, Aplasia of the uterus, Aplasia/Hypoplasia... ORPHA:2879
Developmental And Epileptic Encephalopathy 95
Short distal phalanx of finger, Cryptorchidism, Short fourth metatarsal, Short digit, Short 4th m... OMIM:618143
Peters-Plus Syndrome
Square pelvis bone, Proximal placement of thumb, Ventricular septal defect, Atrial septal defect,... OMIM:261540
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Exercise-induced myoglobinuria, Hepatomegaly, Dicarboxylic aciduria, Hypertrophic cardiomyopathy,... OMIM:201475
Combined Oxidative Phosphorylation Deficiency 33
Left ventricular hypertrophy, Cardiomyopathy, Hepatomegaly, Nephrotic syndrome, Cardiomegaly OMIM:617713
Townes-Brocks Syndrome 2
Bifid uterus, Vesicoureteral reflux, Rectovaginal fistula, Crossed fused renal ectopia, Hypospadias OMIM:617466
Hsd10 Disease, Infantile Type
Cardiomegaly, Abnormal concentration of acylcarnitine in the urine, Hypertrophic cardiomyopathy ORPHA:391428
Yunis-Varon Syndrome
Hip dislocation, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Cardiomyop... ORPHA:3472
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Cardiomegaly, Glomerulonephritis, Hepatomegaly ORPHA:99931
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Splenomegaly, Cardiomegaly, Mitral stenosis, Aortic val... OMIM:231005
Meckel Syndrome 14
Polycystic kidney dysplasia, Postaxial foot polydactyly, Aplasia of the uterus, Ambiguous genital... OMIM:619879
Schinzel-Giedion Midface Retraction Syndrome
Short distal phalanx of finger, Atrial septal defect, Hydroureter, Hypoplastic nipples, Short 1st... OMIM:269150
Mucolipidosis Ii Alpha/Beta
Mucopolysacchariduria, Camptodactyly, Hip dislocation, Hip dysplasia, Enlarged kidney, Metaphysea... OMIM:252500
Craniofaciofrontodigital Syndrome
Finger joint hypermobility, Atrial septal defect, Ventricular septal defect, Abnormal heart valve... ORPHA:363705
Chromosome 17Q12 Deletion Syndrome
Hydronephrosis, Cryptorchidism, Stage 5 chronic kidney disease, Renal cyst, Ureteral atresia, Uni... OMIM:614527
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Thin metacarpal cortices, Thin ribs, Slender long bone, Thin metatarsal cortices, Arachnodactyly,... ORPHA:2463
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Congenital pseudoarthrosis of the clavicle, Aplasia/Hypoplasia of metatarsal bones, Hip dislocati... OMIM:276820
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Decreased testicular size, Cryptorchidism, Abnorm... ORPHA:168558
Beckwith-Wiedemann Syndrome
Renal cortical cysts, Cryptorchidism, Nephrocalcinosis, Enlarged kidney, Gonadoblastoma, Cardiomy... OMIM:130650
Peters Plus Syndrome
Hydronephrosis, Cryptorchidism, Hypoplastic left heart, Pulmonic stenosis, Hypoplasia of the uter... ORPHA:709
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Decreased testicular size, Cryptorchidism, Abnorm... ORPHA:289548
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Lacrimal gland aplasia, Lacrimal gland hypoplasia, Polycystic ovaries, Elevated circulating folli... ORPHA:572333
Pseudo-Torch Syndrome 3
Proteinuria, Cardiomegaly, Acute kidney injury OMIM:618886
Pearson Syndrome
Proteinuria, Reticulocytosis, Hypoplastic spleen, Glycosuria, Abnormality of the liver, Anemia, R... ORPHA:699
Sickle Cell Disease
Renal insufficiency, Hepatomegaly, Hematuria, Cholelithiasis, Cardiomegaly, Splenomegaly OMIM:603903
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Polycystic kidney dysplasia, Tubulointerstitial nephritis, Cardiomyopathy, Renal insufficiency, H... ORPHA:228308
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Townes-Brocks Syndrome 1
Ventricular septal defect, Metatarsal synostosis, Atrial septal defect, Short metatarsal, Tetralo... OMIM:107480
Paternal Uniparental Disomy Of Chromosome 6
Cryptorchidism, Ventricular septal defect, Hepatomegaly, Cardiomegaly, Labial hypertrophy, Precoc... ORPHA:96191
Agammaglobulinemia, X-Linked
Hepatocellular carcinoma, Enteroviral hepatitis, Anemia, Neutropenia, B lymphocytopenia, Lymph no... OMIM:300755
Fucosidosis
Oligosacchariduria, Coxa valga, Hepatomegaly, Glycopeptiduria, Cardiomegaly, Splenomegaly OMIM:230000
Sandhoff Disease
Hepatosplenomegaly, Cardiomegaly, Hepatomegaly, Urinary incontinence OMIM:268800
Fucosidosis
Mucopolysacchariduria, Cardiomegaly, Hepatomegaly ORPHA:349
Amyloidosis, Hereditary, Transthyretin-Related
Urinary incontinence, Cardiomyopathy, Cardiomegaly OMIM:105210
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, 3-Methylglutaconic aciduria, Cardiomegaly OMIM:619259
Ulbright-Hodes Syndrome
Short humerus, Polycystic kidney dysplasia, Cryptorchidism, Abnormal forearm bone morphology, Pho... ORPHA:3404
Congenital Disorder Of Glycosylation, Type It
Hydronephrosis, Ventricular septal defect, Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly OMIM:614921
Mucopolysaccharidosis Type 3
Heparan sulfate excretion in urine, Mucopolysacchariduria, Hip dysplasia, Avascular necrosis of t... ORPHA:581
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Left ventricular hypertrophy, Oligosacchariduria, Hepatomegaly, Hypertrophic cardiomyopathy, Card... ORPHA:308552
Exstrophy-Epispadias Complex
Cryptorchidism, Bifid penis, Penoscrotal transposition, Epispadias, Horseshoe kidney, Urinary inc... ORPHA:322
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Synostosis of the proximal phalanx of the thumb with the 1st metacarpal, Cryptorchidism, Hallux v... OMIM:300967
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:608013
Limb-Mammary Syndrome
Oligodactyly, Bilateral breast hypoplasia, Aplasia of the uterus, Hypoplastic nipples, Syndactyly... ORPHA:69085
Histiocytoid Cardiomyopathy
Renal cyst, Ventricular septal defect, Polycystic ovaries, Hepatomegaly, Cardiomegaly ORPHA:137675
Ogden Syndrome
Global glomerulosclerosis, Secundum atrial septal defect, Decreased testicular size, Cryptorchidi... OMIM:300855
Truncus Arteriosus
Hypoplasia of the thymus, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Ventricul... ORPHA:3384
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Secundum atrial septal defect, Atrial septal defect, Ventricular septal defect, Bicuspid aortic v... OMIM:620066
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Renal artery stenosis, Dilated cardiomyopathy OMIM:208000
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hip dysplasia, Postaxial polydactyly, Unilateral renal agenesis, Clinodactyly of the 5th finger, ... ORPHA:457284
Turner Syndrome Due To Structural X Chromosome Anomalies
Hip dysplasia, Abnormal forearm bone morphology, Splayed toes, Abnormality of the ovary, Gonadobl... ORPHA:99413
Turner Syndrome
Hip dysplasia, Abnormal forearm bone morphology, Splayed toes, Abnormality of the ovary, Gonadobl... ORPHA:881
Mosaic Monosomy X
Hip dysplasia, Abnormal forearm bone morphology, Splayed toes, Abnormality of the ovary, Gonadobl... ORPHA:99228
Monosomy X
Hip dysplasia, Abnormal forearm bone morphology, Splayed toes, Abnormality of the ovary, Gonadobl... ORPHA:99226
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Pollakisuria, Right ventricular hypertrophy ORPHA:268
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Craniorachischisis
Bifid sternum ORPHA:63260
Proteasome-Associated Autoinflammatory Syndrome 1
Camptodactyly of finger, Finger swelling, Hallux valgus, Flexion contracture of toe, Hypoplastic ... OMIM:256040
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Testicular adrenal rest tumor, Decreased testicular size, Ambiguous genitalia, Elevated urinary e... ORPHA:90794
Coffin-Lowry Syndrome
Bifid sternum, Coxa valga, Short metacarpal, Tapered finger, Narrow iliac wing, Drumstick termina... OMIM:303600
Glycogen Storage Disease Ii
Urinary incontinence, Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:232300
Williams Syndrome
Nephrocalcinosis, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Multiple ... ORPHA:904
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Supernumerary nipple, Syndactyly, Bifid uterus, Unilateral brachydactyly, Abnormal reproductive s... ORPHA:1521
Beckwith-Wiedemann Syndrome
Cryptorchidism, Enlarged kidney, Gonadoblastoma, Pseudohypoparathyroidism, Multiple renal cysts, ... ORPHA:116
Bohring-Opitz Syndrome
Urinary retention, Cardiomegaly, Metacarpophalangeal joint contracture, Cholelithiasis, Abnormal ... ORPHA:97297
Congenital Tracheomalacia
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Abnormal hear... ORPHA:95430
Okamoto Syndrome
Hydronephrosis, Hip dysplasia, Polydactyly, Ventricular septal defect, Abnormal left ventricle mo... ORPHA:2729
Hydrolethalus Syndrome 1
Hydronephrosis, Adrenal gland dysgenesis, Ventricular septal defect, Complete atrioventricular ca... OMIM:236680
Absence Of The Pulmonary Artery
Tetralogy of Fallot, Atrial septal defect, Abnormal cardiac septum morphology, Abnormal heart mor... ORPHA:980
Wolf-Hirschhorn Syndrome
Cryptorchidism, Hip dislocation, Hip dysplasia, Short thumb, Precocious puberty, Ventricular sept... OMIM:194190
Coffin-Siris Syndrome 1
Short distal phalanx of the 5th toe, Tetralogy of Fallot, Ventricular septal defect, Atrial septa... OMIM:135900
Fanconi Anemia, Complementation Group L
Micropenis, Absent radius, Unilateral renal agenesis, Absent thumb, Renal hypoplasia, Aplasia of ... OMIM:614083
Singleton-Merten Syndrome 1
Expanded phalanges with widened medullary cavities, Hip dislocation, Hypoplastic distal radial ep... OMIM:182250
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Arachnodactyly, Cardiomegaly, Bicuspid aortic valve ORPHA:91387
Pontocerebellar Hypoplasia Type 7
Cryptorchidism, Micropenis, Ambiguous genitalia, Microphallus, Clitoral hypertrophy, Abnormal scr... ORPHA:284339
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Hypoplastic left heart, Atrial septal defect, Ventricular septal defect, ... ORPHA:99125
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Cardiomegaly, Hepatomegaly, Ventricular hypertrophy OMIM:618278
Neu-Laxova Syndrome 1
Camptodactyly, Cryptorchidism, Ventricular septal defect, Calcaneovalgus deformity, Finger syndac... OMIM:256520
Glycogen Storage Disease Due To Acid Maltase Deficiency
Left ventricular hypertrophy, Oligosacchariduria, Hepatomegaly, Hypertrophic cardiomyopathy, Card... ORPHA:365
Liver Disease, Severe Congenital
Alpha-aminobutyric aciduria, Hydronephrosis, Pancreatic hypoplasia, Left atrial enlargement, Vent... OMIM:619991
Aicardi-Goutières Syndrome
Hepatosplenomegaly, Cardiomegaly, Micropenis, Hypertrophic cardiomyopathy ORPHA:51
Abetalipoproteinemia
Cardiomegaly, Hepatomegaly ORPHA:14
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Ehlers-Danlos Syndrome, Vascular Type
Cryptorchidism, Finger joint hypermobility, Cervical insufficiency, Foot acroosteolysis, Osteolyt... OMIM:130050
Generalized Arterial Calcification Of Infancy
Stippled calcification of the shoulder, Pancreatic calcification, Abnormal calcification of the c... ORPHA:51608
Pallister-Killian Syndrome
Hip dislocation, Ventricular septal defect, Atrial septal defect, Labial hypoplasia, Short toe, 1... OMIM:601803
Loeys-Dietz Syndrome
Arachnodactyly, Camptodactyly of finger, Uterine rupture ORPHA:60030
Vascular Ehlers-Danlos Syndrome
Cryptorchidism, Congenital hip dislocation, Abnormal heart valve morphology, Bladder diverticulum... ORPHA:286

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 Adamtsl3

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 Adamtsl3.

No publications found that use IMPC mice or data for Adamtsl3.

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MGI Allele Allele Type Produced
Adamtsl3em1(IMPC)Tcp Exon Deletion Mice, Tissue
Adamtsl3tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Adamtsl3tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Adamtsl3tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Adamtsl3tm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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