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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
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
small uterus Adamtsl3em1(IMPC)Tcp HOM Late adult 0.00
abnormal sternum morphology Adamtsl3em1(IMPC)Tcp HOM Late adult 0.00
small spleen Adamtsl3em1(IMPC)Tcp HOM Early 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

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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X-ray

XRay Images Whole Body Lateral Orientation

10 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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Eye Morphology

Images Slit Lamp

103 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Histopathology

Images

3 Images

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Electrocardiogram (ECG)

Waveform Image

1 Images

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Gross Pathology and Tissue Collection

Images

8 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 Dorso Ventral

10 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, Anemia, Lymphadenopathy 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 systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... OMIM:604765
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Absence of lymph node germinal center OMIM:235550
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... OMIM:612965
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
Satoyoshi Syndrome
Tapered finger, Abnormality of the humerus, Abnormal femur morphology, Hypoplasia of the uterus, ... ORPHA:3130
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli... OMIM:619126
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Ectopic kidney, Abnormal rib morphology, Hypoplasia of the uterus, Azo... OMIM:601076
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... ORPHA:93405
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Gonadal dysg... ORPHA:206484
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal widening, Flared ... ORPHA:2502
Spondyloepimetaphyseal Dysplasia, Missouri Type
Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small epiphyses, Short low... ORPHA:93356
Ovarian Dysgenesis 2
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism OMIM:300510
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Gonadal dysgenesis, Ele... OMIM:612964
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... OMIM:233420
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Hyp... OMIM:614129
Blount Disease
Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis morphology, Tibial bowing ORPHA:2768
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu... OMIM:618117
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,... OMIM:614841
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary OMIM:617565
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... OMIM:618052
Diethylstilbestrol Syndrome
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... ORPHA:1916
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Deformed humerus, Abnormality of the uterus, Abn... ORPHA:2975
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu... OMIM:617690
Premature Ovarian Failure 6
Hypoplasia of the uterus, Streak ovary, Elevated circulating follicle stimulating hormone level, ... OMIM:612310
Premature Ovarian Failure 13
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level OMIM:617442
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Aplasia of the phalanges of the 3rd toe, Hypergonadotropic hypogonadism, Precocious puberty, Dila... ORPHA:2229
Premature Ovarian Failure 18
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm... OMIM:619203
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Acromesomelic Dysplasia 3
Hypoplasia of the ulna, Brachydactyly, Hypergonadotropic hypogonadism, Tarsal synostosis, Elevate... OMIM:609441
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm... OMIM:619665
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina OMIM:277000
Satoyoshi Syndrome
Short metacarpal, Short metatarsal, Osteolytic defects of the phalanges of the hand, Genu valgum,... OMIM:600705
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia, Micropenis,... OMIM:614837
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... OMIM:620135
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
Seckel Syndrome 7
Abnormal carpal morphology, Hypoplasia of the uterus, Hip dysplasia, Clinodactyly of the 5th fing... OMIM:614851
Spondylometaphyseal Dysplasia, Sedaghatian Type
Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Atrial septal defect,... OMIM:250220
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... OMIM:201250
Kimura Disease
Eosinophilia, Lymphadenopathy, Follicular hyperplasia ORPHA:482
Rudiger Syndrome
Ureterovesical stenosis, Ovarian cyst, Bicornuate uterus, Micropenis, Short digit OMIM:268650
Spondyloepimetaphyseal Dysplasia, X-Linked
Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Radial deviation... OMIM:300106
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ... OMIM:112910
Metaphyseal Dysplasia, Braun-Tinschert Type
Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle... ORPHA:85188
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... ORPHA:3344
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism OMIM:614842
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Cardiomegaly OMIM:300886
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Tetragametic Chimerism
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:199310
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Iliac crest serration, Metaphyseal chondrodysplasia, Myocarditis, Atrioventricu... ORPHA:93317
Müllerian Aplasia And Hyperandrogenism
Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary, Brachydactyly ORPHA:247768
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom... ORPHA:439
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym... OMIM:602450
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Vanishing testis, El... OMIM:273250
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... OMIM:127300
Meckel Syndrome 12
Ureteral hypoplasia, Rocker bottom foot, Renal hypoplasia, Hypoplasia of the uterus, Vaginal atresia OMIM:616258
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... ORPHA:3320
Fixed Subaortic Stenosis
Aortic regurgitation, Paroxysmal atrial fibrillation, Angina pectoris, Bicuspid aortic valve, Ven... ORPHA:3092
Acheiropodia
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... ORPHA:931
Amed Syndrome, Digenic
Hypoplasia of the uterus, Long thumb OMIM:619151
Ectodermal Dysplasia-Syndactyly Syndrome 2
Syndactyly, Cardiomegaly OMIM:613576
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow... OMIM:602111
Fowler Urethral Sphincter Dysfunction Syndrome
Dysuria, Urinary incontinence, Abnormality of the urethra, Polycystic ovaries, Urinary retention,... ORPHA:2795
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... ORPHA:2041
Perrault Syndrome 4
Hypoplasia of the uterus, Increased circulating gonadotropin level, Bicornuate uterus, Hypoplasia... OMIM:615300
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... ORPHA:432
Fraser-Like Syndrome
Ovarian cyst, Contracture of the proximal interphalangeal joint of the 2nd finger, Overlapping toe OMIM:229230
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Transient ischemic attack, Cardiac arrest, Sudden cardiac ... OMIM:115197
46,Xy Sex Reversal 4
Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen... OMIM:154230
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi... ORPHA:85451
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Cortical thickening of long bone diaphyses, Tibial bowing OMIM:166740
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... OMIM:614473
Granulomatous Slack Skin
Nephrocalcinosis, Acute kidney injury, Abnormal lymph node morphology ORPHA:33111
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Delayed epiphyseal ossific... ORPHA:785
Ovarian Fibroma
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary ORPHA:314473
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Tibial bowing, Femo... OMIM:600785
Attrv30M Amyloidosis
Cardiomyopathy, Nephropathy, Abnormal renal physiology, Cardiomegaly ORPHA:85447
Estrogen Resistance
Hypoplasia of the uterus, Breast aplasia, Polycystic ovaries OMIM:615363
Microcephaly 20, Primary, Autosomal Recessive
Hypoplasia of the uterus, Ureteral agenesis, Vaginal atresia, Renal hypoplasia OMIM:617914
Leydig Cell Hypoplasia
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... ORPHA:755
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Multiple rib fractures, Short femur, Fractured radius, Ventricular septal defect, Hypospadias, De... OMIM:616897
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79292
Microphthalmia, Syndromic 9
Ventricular septal defect, Cryptorchidism, Hypoplastic left atrium, Renal hypoplasia, Horseshoe k... OMIM:601186
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged kidney, ... ORPHA:90301
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ca... ORPHA:860
Uruguay Faciocardiomusculoskeletal Syndrome
Hallux valgus, Ventricular hypertrophy, Congenital hip dislocation, Left atrial enlargement, Card... OMIM:300280
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Thickened ribs, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asy... OMIM:252920
Cantu Syndrome
Broad hallux, Bicuspid aortic valve, Short hallux, Coxa valga, Cardiomegaly, Pericardial effusion... OMIM:239850
Fibular Hemimelia
Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of the hip, Finger ... ORPHA:93323
Familial Atrial Myxoma
Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Pulmonic valve myxoma, Cardiac m... ORPHA:615
Ovarian Fibrothecoma
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary, Abnormal endometrium morphology ORPHA:314478
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... OMIM:202010
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Iliac crest serration, Cardiomegaly, Wide distal femoral metaphysis, Delayed epiphyseal ossificat... OMIM:613320
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Splenomegaly, Nephrotic syndrome, Metaphyseal irregularity OMIM:269920
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Elevated circulating lutei... ORPHA:90796
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Abnormal lymph node morph... OMIM:612840
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f... OMIM:618652
Acheiropody
Carpal bone aplasia, Short humerus, Aplasia of the phalanges of the hand, Aplasia of the ulna, Ab... OMIM:200500
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly OMIM:228250
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Neuraminidase Deficiency
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Cardiomegaly, Spleno... OMIM:256550
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Decreased proportion of naive T cells, Jaundice, Lymph node hypoplasia, Abnormally ... ORPHA:276
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the fal... OMIM:158330
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Elevated circulating lutein... ORPHA:90797
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Myoectodermal Gonadal Dysgenesis Syndrome
Elevated circulating luteinizing hormone level, Bifid distal phalanx of the thumb, Unilateral ren... OMIM:618419
Hemochromatosis, Type 1
Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Cardiomyopathy, Azoosper... OMIM:235200
Complete Atrioventricular Septal Defect
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... ORPHA:1329
Renal And Mullerian Duct Hypoplasia
Renal hypoplasia, Horseshoe kidney, Hydrocele testis, Anteriorly displaced urethral meatus, Aplas... OMIM:266810
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pericardial constriction, Thickened cortex of lo... OMIM:253250
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Cirrhotic Cardiomyopathy
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C... ORPHA:57777
Renal Cysts And Diabetes Syndrome
Hypospadias, Proteinuria, Unilateral renal agenesis, Renal hypoplasia, Renal cyst, Stage 5 chroni... OMIM:137920
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Hypospadias, Ovotestis, Hypoplasia of the uterus, Ch... OMIM:309801
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Cardiomegaly, Abnormal thumb morphology, Abnormal atrioventricular valve morphology, Mitral valve... ORPHA:324410
Stormorken Syndrome
Howell-Jolly bodies, Asplenia, Anemia, Hematuria, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly ORPHA:858
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Short metacarpal, Broad long bones, Micromelia, Bowing of the legs, Hip subluxation, Metatarsus a... OMIM:271665
Complete Androgen Insensitivity Syndrome
Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating luteinizing hormone... ORPHA:99429
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Hypoplasia of the uterus, Clinodactyly, Decreased response to growth hormone stimulation test, Sh... OMIM:615866
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly OMIM:600649
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen, Micropenis OMIM:602361
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Female pseudohermaphroditism OMIM:613546
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Flared metaphysis, Advanced ossification of carpal bones, Flat acetabular roof, Irregular epiphys... OMIM:610442
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... OMIM:602782
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne... OMIM:613179
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hy... OMIM:212140
Lethal Congenital Contracture Syndrome 10
Overlapping fingers, Overriding aorta, Ventricular septal defect, Cardiomegaly, Femoral bowing, S... OMIM:617022
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial f... ORPHA:1677
Danon Disease
Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila... OMIM:300257
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... ORPHA:555874
Cardiac-Urogenital Syndrome
Bifid scrotum, Patent urachus, Scimitar anomaly, Atrial septal defect, Micropenis, Mesocardia, Pe... OMIM:618280
Timothy Syndrome
Ventricular septal defect, Cardiomegaly, Cutaneous syndactyly, Tetralogy of Fallot, Patent forame... OMIM:601005
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614702
Cantú Syndrome
Finger syndactyly, Broad hallux phalanx, Abnormal heart valve morphology, Short hallux, Coxa valg... ORPHA:1517
Bardet-Biedl Syndrome 1
Decreased testicular size, Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxi... OMIM:209900
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Adrenal hyperplasia, Femoral bowing, Abnormal ovarian morphology, Vesicourete... ORPHA:95699
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Proteinuria, Septate vagina, Chronic kidney disease, Uterus didelphys, Proxim... OMIM:146255
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Missing ribs, Absent external genitalia, Rib fusion, Thin ribs, Urethral atresia, Aplasia of the ... OMIM:271520
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Renal insufficiency, Septate vagina, Unilateral renal agenesis, Uterus didelp... ORPHA:2237
Lumbar Syndrome
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Vesicoureteral reflux, Hypoplastic labi... ORPHA:83628
Bent Bone Dysplasia Syndrome 2
Atrial septal defect, Hepatomegaly, Bowed humerus, Ulnar bowing, Femoral bowing, Thin ribs, Short... OMIM:620076
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Abnormal spermatogenesis, Azoospermia, Ovarian cyst, Abnormality o... OMIM:228300
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:619051
Refsum Disease, Classic
Cardiomyopathy, Short fourth metatarsal, Abnormal renal physiology, Cardiomegaly OMIM:266500
Lethal Acantholytic Erosive Disorder
Cardiomegaly, 4-5 finger syndactyly, 2-3 finger syndactyly, Impaired myocardial contractility, Hy... ORPHA:158687
Alpha-N-Acetylgalactosaminidase Deficiency
Oligosacchariduria, Cardiomegaly ORPHA:3137
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Unilateral renal agenesis, Ectopic kidney, Horseshoe kidney, Aplasia of... ORPHA:3109
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Small scrotum, Femoral bowing, Micropenis, Arachnodactyly, Hyp... OMIM:201750
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Abnormal metaphysis morphology, Long fibula ORPHA:935
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
11 pairs of ribs, Hallux valgus, Sandal gap, Bicuspid aortic valve, Spatulate thumbs, Broad dista... OMIM:245600
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finge... OMIM:274000
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Hypoplasminogenemia
Nephrolithiasis, Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology ORPHA:722
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Woodhouse-Sakati Syndrome
Streak ovary, Hypoplasia of the fallopian tube, Decreased response to growth hormone stimulation ... ORPHA:3464
Familial Adenomatous Polyposis 4
Ovarian cyst, Uterine leiomyoma, Renal cyst OMIM:617100
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly ORPHA:42
Mirage Syndrome
Hypospadias, Anemia, Leukopenia, Microphallus, Hypoplastic spleen, Lymphopenia, Thrombocytopenia OMIM:617053
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension... ORPHA:1457
Heterotaxy, Visceral, 1, X-Linked
Congenital hip dislocation, Cardiomegaly, Dextrotransposition of the great arteries, Atrial septa... OMIM:306955
Woodhouse-Sakati Syndrome
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, ... OMIM:241080
Carnitine Palmitoyltransferase I Deficiency
Renal tubular acidosis, Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly OMIM:255120
Blepharophimosis, Ptosis, And Epicanthus Inversus
Hypoplasia of the uterus, Increased circulating gonadotropin level OMIM:110100
Beck-Fahrner Syndrome
Hip dysplasia, Ventricular septal defect, Cardiomegaly OMIM:618798
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p... ORPHA:3427
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Abnormal metacarpophalangeal joint morphology, Hypogonadotropic hypogonadism, Cardi... ORPHA:465508
Oeis Complex
11 pairs of ribs, Congenital hip dislocation, Hydroureter, Bifid uterus, Epispadias, Cryptorchidi... OMIM:258040
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Hypospadias, Precocious puberty in females, Elevated circulating luteinizing hormo... ORPHA:90793
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Mogs-Cdg
Hepatomegaly, External genital hypoplasia, Cardiomegaly, Hepatosplenomegaly, Hydrocele testis, At... ORPHA:79330
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Dicarboxylic aciduria, Exercise-induced myoglobinuria, Cardiomegaly, Hypertrophic c... OMIM:201475
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Long toe, Hepatomegaly, Ureteral duplication, Renal insufficiency, Tapered toe, Long-chain dicarb... OMIM:608836
Townes-Brocks Syndrome 2
Hypospadias, Bifid uterus, Rectovaginal fistula, Vesicoureteral reflux, Crossed fused renal ectopia OMIM:617466
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiomegaly, Nephrotic syndrome, Cardiomyopathy, Left ventricular hypertrophy OMIM:617713
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Hypoplasia of penis, Aplasia of the ulna, Cryptorchidism... ORPHA:2879
Peters-Plus Syndrome
Hypoplasia of the vagina, Ureteral duplication, Bilobate gallbladder, Proximal placement of thumb... OMIM:261540
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el... OMIM:261740
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Abnormal concentration of acylcarnitine in the urine, Cardiomegaly ORPHA:391428
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Cardiomegaly, Abnormal finger morphology, Aplasia of... ORPHA:3472
Developmental And Epileptic Encephalopathy 95
Short digit, Short fourth metatarsal, Hepatomegaly, Cardiomegaly, Cryptorchidism, Clinodactyly of... OMIM:618143
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Hepatomegaly, Glomerulonephritis, Cardiomegaly ORPHA:99931
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... OMIM:231005
Neurodegeneration And Seizures Due To Copper Transport Defect
Short tibia, Short femur, Glandular hypospadias, Cardiomegaly OMIM:620306
Meckel Syndrome 14
Syndactyly, Bowing of the long bones, Postaxial polydactyly, Postaxial hand polydactyly, Postaxia... OMIM:619879
Schinzel-Giedion Midface Retraction Syndrome
Small scrotum, Increased density of long bones, Tibial bowing, Hypoplasia of first ribs, Atrial s... OMIM:269150
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Hypoplastic scapulae, Coxa valga, Cardiomegaly, Splenomegaly, Metaphyseal widening,... OMIM:252500
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Arachnodactyly, Cardiomegaly, Thin ribs, Thin metatarsal cortices, Slender long bone, Thin metaca... ORPHA:2463
Peters Plus Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Toe syndactyly, Hypospadias, Cryptorchidism, ... ORPHA:709
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... ORPHA:363705
Chromosome 17Q12 Deletion Syndrome
Long toe, Multicystic kidney dysplasia, Unilateral renal agenesis, Long fingers, Cryptorchidism, ... OMIM:614527
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Femoral bowing, Anteriorly displaced genitalia, Foot oligodactyly, Aplasia/Hypopla... OMIM:276820
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pol... ORPHA:572333
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Renal salt wasting, Female external genitalia in ... ORPHA:168558
Pearson Syndrome
Reticulocytosis, Hepatomegaly, Pancytopenia, Pancreatic fibrosis, Renal insufficiency, Proteinuri... ORPHA:699
Pseudo-Torch Syndrome 3
Acute kidney injury, Proteinuria, Cardiomegaly OMIM:618886
Sickle Cell Disease
Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Hematuria, Cholelithiasis OMIM:603903
Beckwith-Wiedemann Syndrome
Hepatomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorchidism, Pancreatic hyperpla... OMIM:130650
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Renal salt wasting, Female external genitalia in ... ORPHA:289548
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Red-brown urine, Renal tu... ORPHA:228308
Agammaglobulinemia, X-Linked
Hepatocellular carcinoma, Enteroviral hepatitis, Lymph node hypoplasia, T lymphocytopenia, B lymp... OMIM:300755
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Townes-Brocks Syndrome 1
Bifid scrotum, Short metatarsal, Triphalangeal thumb, Atrial septal defect, Vesicoureteral reflux... OMIM:107480
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Precocious puberty, Cryptorchidism, Labial... ORPHA:96191
Sandhoff Disease
Hepatosplenomegaly, Hepatomegaly, Urinary incontinence, Cardiomegaly OMIM:268800
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Urinary incontinence, Cardiomegaly OMIM:105210
Fucosidosis
Hepatomegaly, Mucopolysacchariduria, Cardiomegaly ORPHA:349
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, 3-Methylglutaconic aciduria, Cardiomegaly OMIM:619259
Mucopolysaccharidosis Type 3
Hepatomegaly, Cardiomegaly, Avascular necrosis of the capital femoral epiphysis, Splenomegaly, He... ORPHA:581
Ulbright-Hodes Syndrome
Abnormal penis morphology, Short humerus, Short metacarpal, Abnormal external genitalia, Enlarged... ORPHA:3404
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Cardiomegaly, Oligosacchariduria, Left ventricular hypertrophy, Hypertrophic cardio... ORPHA:308552
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Dilated cardiomyopathy, Hydronephrosis OMIM:614921
Exstrophy-Epispadias Complex
Bifid scrotum, Renal insufficiency, Urinary incontinence, Bifid uterus, Epispadias, Cryptorchidis... ORPHA:322
Fucosidosis
Hepatomegaly, Cardiomegaly, Coxa valga, Splenomegaly, Glycopeptiduria, Oligosacchariduria OMIM:230000
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Hepatomegaly, Splenomegaly, Cardiomegaly OMIM:608013
Limb-Mammary Syndrome
Syndactyly, Toe syndactyly, Absent nipple, 3-4 finger cutaneous syndactyly, Bilateral breast hypo... ORPHA:69085
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Renal cyst, Polycystic ovaries ORPHA:137675
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Hallux valgus, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiome... OMIM:300967
Truncus Arteriosus
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... ORPHA:3384
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Broad hallux, Postaxial polydactyly, Unilateral renal agenesis, Hip dysplasia, Aplasia of the vag... ORPHA:457284
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Renal artery stenosis, Cardiomegaly OMIM:208000
Turner Syndrome Due To Structural X Chromosome Anomalies
Hypermobility of toe joints, Bicuspid aortic valve, High urinary gonadotropin level, Ectopic kidn... ORPHA:99413
Turner Syndrome
Hypermobility of toe joints, Bicuspid aortic valve, High urinary gonadotropin level, Ectopic kidn... ORPHA:881
Mosaic Monosomy X
Hypermobility of toe joints, Bicuspid aortic valve, High urinary gonadotropin level, Ectopic kidn... ORPHA:99228
Monosomy X
Hypermobility of toe joints, Bicuspid aortic valve, High urinary gonadotropin level, Ectopic kidn... ORPHA:99226
Ogden Syndrome
Atrial septal defect, Global glomerulosclerosis, Congenital hip dislocation, Broad hallux, Sandal... OMIM:300855
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Pollakisuria, Right ventricular hypertrophy, Cardiomegaly ORPHA:268
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Craniorachischisis
Bifid sternum ORPHA:63260
Proteasome-Associated Autoinflammatory Syndrome 1
Hallux valgus, Hepatomegaly, Hypoplastic scapulae, Camptodactyly of finger, Cardiomegaly, Long fi... OMIM:256040
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Tapered finger, Coxa va... OMIM:303600
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Premature pubarche, Hypogonadotropic hypogonadism, Abnormal external genitali... ORPHA:90794
Glycogen Storage Disease Ii
Splenomegaly, Hepatomegaly, Urinary incontinence, Cardiomegaly OMIM:232300
Williams Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Nephrocalcinosis, Atrial septal defect,... ORPHA:904
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Syndactyly, Supernumerary nipple, Bifid uterus, Abnormal reproductive system morphology, Unilater... ORPHA:1521
Hydrolethalus Syndrome 1
Ventricular septal defect, Hypospadias, Bifid uterus, Preaxial hand polydactyly, Postaxial hand p... OMIM:236680
Bohring-Opitz Syndrome
Cardiomegaly, Abnormal cardiac septum morphology, Urinary retention, Metacarpophalangeal joint co... ORPHA:97297
Beckwith-Wiedemann Syndrome
Hepatomegaly, Ureteral duplication, Cardiomegaly, Splenomegaly, Cryptorchidism, Abnormal pancreas... ORPHA:116
Okamoto Syndrome
Ureteropelvic junction obstruction, Ventricular septal defect, Urinary incontinence, Bifid uterus... ORPHA:2729
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... ORPHA:95430
Fanconi Anemia, Complementation Group L
Unilateral renal agenesis, Absent thumb, Absent radius, Renal hypoplasia, Aplasia of the uterus, ... OMIM:614083
Absence Of The Pulmonary Artery
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... ORPHA:980
Wolf-Hirschhorn Syndrome
Rib segmentation abnormalities, Pseudoepiphyses of the metacarpals, Ventricular septal defect, Sh... OMIM:194190
Coffin-Siris Syndrome 1
Ectopic kidney, Prominent interphalangeal joints, Atrial septal defect, Clinodactyly of the 5th f... OMIM:135900
Singleton-Merten Syndrome 1
Hypoplastic distal radial epiphyses, Mitral valve calcification, Coxa valga, Cardiomegaly, Aortic... OMIM:182250
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Arachnodactyly, Cardiomegaly ORPHA:91387
Pontocerebellar Hypoplasia Type 7
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... ORPHA:284339
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... ORPHA:99125
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Hepatomegaly, Ventricular hypertrophy, Cardiomegaly OMIM:618278
Neu-Laxova Syndrome 1
Finger syndactyly, Toe syndactyly, Ventricular septal defect, Rocker bottom foot, Bifid uterus, L... OMIM:256520
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Cardiomegaly, Oligosacchariduria, Left ventricular hypertrophy, Hypertrophic cardio... ORPHA:365
Liver Disease, Severe Congenital
Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Hypospadias, Cardiomegaly, Bili... OMIM:619991
Aicardi-Goutières Syndrome
Hepatosplenomegaly, Hypertrophic cardiomyopathy, Micropenis, Cardiomegaly ORPHA:51
Abetalipoproteinemia
Hepatomegaly, Cardiomegaly ORPHA:14
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Ehlers-Danlos Syndrome, Vascular Type
Cryptorchidism, Cystocele, Foot acroosteolysis, Osteolytic defects of the phalanges of the hand, ... OMIM:130050
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Hyperphosphaturia, Cardiomegaly, Pericardial effusion, Stippled calcific... ORPHA:51608
Pallister-Killian Syndrome
Congenital hip dislocation, Small scrotum, Renal cyst, Camptodactyly of 2nd-5th fingers, Short pa... OMIM:601803
Loeys-Dietz Syndrome
Arachnodactyly, Camptodactyly of finger, Uterine rupture ORPHA:60030
Vascular Ehlers-Danlos Syndrome
Congenital hip dislocation, Hypospadias, Abnormal heart valve morphology, Cryptorchidism, Cystoce... 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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