Gene Summary

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

IMPC Data Collections

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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Eye Morphology

Images Ophthalmoscopy

158 Images

Eye Morphology

Images Ophthalmoscopy

103 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Eye Morphology

Images Slit Lamp

103 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Electrocardiogram (ECG)

Waveform Image

1 Images

Eye Morphology

Images Slit Lamp

3 Images

Histopathology

Images

3 Images

Gross Pathology and Tissue Collection

Images

8 Images

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
Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly 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, Congestive heart failure, Dilated cardiomyopathy, Red... OMIM:604765
46,Xy Sex Reversal 3
Ambiguous genitalia, Sex reversal, Penoscrotal hypospadias, Elevated circulating luteinizing horm... OMIM:612965
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Ovarian Dysgenesis 6
Hypergonadotropic hypogonadism, Hypoplasia of the uterus OMIM:618078
Satoyoshi Syndrome
Genu varum, Tapered finger, Abnormality of the humerus, Abnormality of the ovary, Abnormality of ... ORPHA:3130
Immunodeficiency 75 With Lymphoproliferation
Lymphadenopathy, Follicular hyperplasia, Decreased proportion of class-switched memory B cells, H... OMIM:619126
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
46,Xx Testicular Disorder Of Sex Development
Male hypogonadism, Ambiguous genitalia, Polycystic ovaries, Decreased testicular size ORPHA:393
Syndactyly Type 4
Triphalangeal thumb, Camptodactyly of finger, Short tibia, Foot polydactyly, Toe syndactyly, Hand... ORPHA:93405
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Bicornuate uterus, Azoospermia, Unilateral renal agenesis, Ectopic kidney, Abnormal rib morpholog... OMIM:601076
Gonadoblastoma
Ambiguous genitalia, Gonadal dysgenesis with female appearance, male, Gonadal calcification, Abno... ORPHA:206484
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Metaphyseal irregularity, Short lower limbs, Femoral bowing, Flared metaphysis, Flatt... ORPHA:93356
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Metaphyseal dysplasia, Genu varum, Short foot, Broad tibial metaphyses, Short femoral neck, Short... ORPHA:2502
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevated circulating follicle... OMIM:612964
Ovarian Dysgenesis 2
Streak ovary, Hypergonadotropic hypogonadism, Hypoplasia of the uterus OMIM:300510
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadoblastoma, Abnormality of female external genitalia, Male hypogonadism, Increased circulatin... ORPHA:168563
46,Xy Sex Reversal 7
Abnormal epididymis morphology, Gonadoblastoma, Gonadal dysgenesis, male, Sex reversal, Hypoplasi... OMIM:233420
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased testicular size, Hypoplasia of the ovary, Cryptorchidism, Hypogonadotropic hypogonadism... OMIM:614841
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Abnormality of the ovary, Hypogonadism ORPHA:1875
Diethylstilbestrol Syndrome
Abnormal testis morphology, Vaginal neoplasm, Epididymal cyst, Abnormality of the uterus, Hypospa... ORPHA:1916
Blount Disease
Abnormal tibial metaphysis morphology, Abnormality of the proximal tibial epiphysis, Tibial bowing ORPHA:2768
Perrault Syndrome 3
Streak ovary, Elevated circulating luteinizing hormone level, Hypergonadotropic hypogonadism, Ele... OMIM:614129
Testicular Agenesis
Urogenital sinus anomaly, Ambiguous genitalia, Absent external genitalia, Urethrovaginal fistula,... ORPHA:325124
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Left ventricular diastolic dysfunction, Tricuspid regurgitatio... OMIM:618052
Perrault Syndrome 6
Streak ovary, Hypoplasia of the uterus OMIM:617565
Autoinflammation With Episodic Fever And Lymphadenopathy
Lymphadenopathy, Hepatomegaly, Splenomegaly, Microcytic anemia, Recurrent tonsillitis OMIM:618852
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome
Increased size of the clitoris, Ambiguous genitalia, female, Abnormality of the ovary, Deformed h... ORPHA:2975
Ovarian Dysgenesis 5
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:617690
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopathy, Hypo... OMIM:620135
Premature Ovarian Failure 13
Elevated circulating follicle stimulating hormone level, Hypoplasia of the uterus OMIM:617442
Premature Ovarian Failure 6
Streak ovary, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimu... OMIM:612310
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Aplasia of the phalanges of the 3rd toe, Dilated cardiomyopathy, Polycystic o... ORPHA:2229
Premature Ovarian Failure 18
Hypoplasia of the ovary, Elevated circulating follicle stimulating hormone level, Elevated circul... OMIM:619203
Mast Cell Sarcoma
Mastocytosis, Lymphadenopathy, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:66661
Acromesomelic Dysplasia 3
Aplasia of the proximal phalanx of the 2nd finger, Short phalanx of finger, Short toe, Short femo... OMIM:609441
Ovarian Dysgenesis 9
Hypoplasia of the ovary, Elevated circulating follicle stimulating hormone level, Elevated circul... 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, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis... OMIM:614837
Satoyoshi Syndrome
Osteolytic defects of the phalanges of the hand, Genu valgum, Short metacarpal, Brachydactyly, Sh... OMIM:600705
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Short tibia, Foot oligodactyly, Hand oligodactyly, Syndactyly, Fibular aplasia, Tibial bowing OMIM:246570
Testicular Regression Syndrome
Ambiguous genitalia, Decreased testicular size, Abnormal male internal genitalia morphology, Hypo... ORPHA:983
Seckel Syndrome 7
Abnormal carpal morphology, Short middle phalanx of the 5th finger, Hip dysplasia, Clinodactyly o... OMIM:614851
46,Xx Sex Reversal 2
Sex reversal, Bifid scrotum, Hypoplasia of the vagina, True hermaphroditism, Azoospermia, Ovotest... OMIM:278850
Rudiger Syndrome
Ureterovesical stenosis, Bicornuate uterus, Short digit, Ovarian cyst, Micropenis OMIM:268650
Kimura Disease
Lymphadenopathy, Follicular hyperplasia, Eosinophilia ORPHA:482
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short phalanx of finger, Flared iliac wing, Irregular tarsal bones, Narrow greater sciatic notch,... OMIM:250220
Metaphyseal Dysplasia, Braun-Tinschert Type
Broad tibial metaphyses, Broad femoral head, Fibular bowing, Exostoses of the radius, Hypoplasia ... ORPHA:85188
Acromesomelic Dysplasia 2C
Short tibia, Hypoplasia of the radius, Radial bowing, Cuboidal metacarpal, Hip dislocation, Hypop... OMIM:201250
Spondyloepimetaphyseal Dysplasia, X-Linked
Short phalanx of finger, Coxa valga, Flared iliac wing, Narrow pelvis bone, Short palm, Prominent... OMIM:300106
Tetragametic Chimerism
Abnormality of the scrotum, Ambiguous genitalia, Abnormal testis morphology, Bifid scrotum, Gonad... ORPHA:199310
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Triphalangeal thumb, Short tibia, Absent tibia, Preaxial polydactyly, Fibular duplication OMIM:188740
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Ambiguous genitalia, Bifid scrotum, Abnormal male internal genitalia mo... ORPHA:2138
Weismann-Netter Syndrome
Abnormality of the humerus, Tibial bowing, Femoral bowing, Abnormal morphology of ulna, Abnormali... ORPHA:3344
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis ORPHA:242
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Osebold-Remondini Syndrome
Short tibia, Short toe, Short phalanx of finger, Hypoplasia of the radius, Carpal synostosis, Hyp... OMIM:112910
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Abnormality of the ovary, Hypoplasia of the uterus, Brachydactyly ORPHA:247768
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Aplasia of the uterus, Elevated circulating follicle stimulating hormon... OMIM:273250
Isolated Right Ventricular Hypoplasia
Patent foramen ovale, Bidirectional shunt, Right bundle branch block, Systolic heart murmur, Abno... ORPHA:439
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally low T cell receptor excis... OMIM:602450
Spondylometaphyseal Dysplasia, Sedaghatian Type
Iliac crest serration, Myocarditis, Short metacarpal, Long fibula, Metaphyseal chondrodysplasia, ... ORPHA:93317
Fixed Subaortic Stenosis
Atrioventricular canal defect, Systolic heart murmur, Bacterial endocarditis, Left ventricular ou... ORPHA:3092
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Coxa valga, Finger syndactyly, Abnormal cardiac septum morphology, Tibial torsion, Hi... ORPHA:3320
Léri-Weill Dyschondrosteosis
Short tibia, Abnormal carpal morphology, Abnormal metaphysis morphology, Genu valgum, Abnormality... ORPHA:240
Acheiropodia
Aplasia of the ulna, Upper limb phocomelia, Absent radius, Abnormal metaphysis morphology, Abnorm... ORPHA:931
Amed Syndrome, Digenic
Long thumb, Hypoplasia of the uterus OMIM:619151
Ectodermal Dysplasia-Syndactyly Syndrome 2
Syndactyly, Cardiomegaly OMIM:613576
Coronary Arterial Fistula
Pulmonary arterial hypertension, Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Bacte... ORPHA:2041
Leri-Weill Dyschondrosteosis
Short tibia, Short toe, Short 4th metacarpal, Coxa valga, Abnormal carpal morphology, Hypoplasia ... OMIM:127300
Meckel Syndrome 12
Ureteral hypoplasia, Vaginal atresia, Renal hypoplasia, Rocker bottom foot, Hypoplasia of the uterus OMIM:616258
Fowler Urethral Sphincter Dysfunction Syndrome
Urinary incontinence, Urinary retention, Dysuria, Abnormality of the ovary, Polycystic ovaries, A... ORPHA:2795
Perrault Syndrome 4
Bicornuate uterus, Increased circulating gonadotropin level, Hypoplasia of the ovary, Hypoplasia ... OMIM:615300
Normosmic Congenital Hypogonadotropic Hypogonadism
Female hypogonadism, Decreased testicular size, Camptodactyly, Azoospermia, Non-obstructive azoos... ORPHA:432
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Fraser-Like Syndrome
Overlapping toe, Ovarian cyst, Contracture of the proximal interphalangeal joint of the 2nd finger OMIM:229230
Attrv122I Amyloidosis
Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Abnormal EKG, Left ventri... ORPHA:85451
46,Xy Sex Reversal 4
Hydronephrosis, Sex reversal, Hypoplastic labia majora, Agonadism, Ureteropelvic junction obstruc... OMIM:154230
Leydig Cell Hypoplasia
Female hypogonadism, Testicular gonadoblastoma, Ambiguous genitalia, Hyoplasia of the Leydig cell... ORPHA:755
Cardiomyopathy, Familial Hypertrophic, 4
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Right bundle branch block, Redu... OMIM:115197
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Osteosclerosis With Ichthyosis And Fractures
Tibial bowing, Cortical thickening of long bone diaphyses, Femoral bowing OMIM:166740
Granulomatous Slack Skin
Abnormal lymph node morphology, Nephrocalcinosis, Acute kidney injury ORPHA:33111
Arterial Calcification, Generalized, Of Infancy, 2
Reduced left ventricular ejection fraction, Sinus tachycardia, Cardiogenic shock, Congestive hear... OMIM:614473
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Metaphyseal cupping, Coxa vara, Radial bowing, Flared iliac wing, Ulnar bowing, Femor... OMIM:602111
Microphthalmia, Syndromic 9
Truncus arteriosus, Ventricular septal defect, Bicornuate uterus, Hypoplastic left atrium, Atrial... OMIM:601186
Estrogen Resistance Syndrome
Delayed epiphyseal ossification, Enlarged polycystic ovaries, Increased circulating gonadotropin ... ORPHA:785
Combined Oxidative Phosphorylation Deficiency 33
Nephrotic syndrome, Left ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Cardiomyopathy OMIM:617713
Ovarian Fibroma
Abnormality of the ovary, Ovarian fibroma, Gonadal calcification ORPHA:314473
Attrv30M Amyloidosis
Cardiomegaly, Nephropathy, Abnormal renal physiology, Cardiomyopathy ORPHA:85447
Estrogen Resistance
Polycystic ovaries, Breast aplasia, Hypoplasia of the uterus OMIM:615363
Fish-Eye Disease
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:79292
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged kidney, Polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged ... ORPHA:90301
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hydronephrosis, Fractured radius, Ventricular septal defect, Short ribs, Multiple rib fractures, ... OMIM:616897
Timothy Syndrome
Patent foramen ovale, Ventricular septal defect, Syndactyly, Cardiomegaly, Tetralogy of Fallot, C... OMIM:601005
Microcephaly 20, Primary, Autosomal Recessive
Ureteral agenesis, Vaginal atresia, Renal hypoplasia, Hypoplasia of the uterus OMIM:617914
Cantu Syndrome
Broad first metatarsal, Cardiomegaly, Coxa valga, Congenital hypertrophy of left ventricle, Erlen... OMIM:239850
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Ambiguous genitalia, female, Hypoplasia of the vagina, Decreased testicular size, Precocious pube... OMIM:202010
Congenitally Uncorrected Transposition Of The Great Arteries
Left ventricular outflow tract obstruction, Ventricular septal defect, Abnormal mitral valve morp... ORPHA:860
Familial Atrial Myxoma
Bacterial endocarditis, Heart murmur, Pulmonic valve myxoma, Congestive heart failure, Cardiac my... ORPHA:615
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Enlarged polycystic ovaries, Hypoplasia of the vagina, Female external genitalia in individual wi... ORPHA:90796
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Ovarian Fibrothecoma
Abnormal endometrium morphology, Abnormality of the ovary, Ovarian fibroma, Gonadal calcification ORPHA:314478
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Ventricular septal defect, Bilateral cryptorchidism, Atrial septal defect, ... OMIM:618652
Leukocyte Adhesion Deficiency, Type Iii
Abnormal lymph node morphology, Anemia, Hepatosplenomegaly, Leukocytosis, Extramedullary hematopo... OMIM:612840
Infantile Sialic Acid Storage Disease
Metaphyseal irregularity, Nephrotic syndrome, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:269920
Mucopolysaccharidosis, Type Iiib
Thickened ribs, Asymmetric septal hypertrophy, Hepatomegaly, Cardiomegaly, Splenomegaly, Heparan ... OMIM:252920
Acheiropody
Short tibia, Aplasia of the phalanges of the hand, Absent toe, Aplasia of metacarpal bones, Aplas... OMIM:200500
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Hand monodactyly, Absent tibia, Bifid femur, Aplasia of the ulna, Split hand, Foot monodactyly OMIM:228250
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Iliac crest serration, Metaphyseal cupping, Short long bone, Short ribs, Hypoplastic ischia, Card... OMIM:613320
Popliteal Pterygium Syndrome
Bifid scrotum, Cutaneous finger syndactyly, Hypoplasia of the vagina, Hypoplastic labia majora, C... OMIM:119500
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia... OMIM:619313
Neuraminidase Deficiency
Urinary excretion of sialylated oligosaccharides, Epiphyseal stippling, Increased urinary O-linke... OMIM:256550
Hemochromatosis, Type 1
Azoospermia, Testicular atrophy, Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splen... OMIM:235200
Complete Atrioventricular Septal Defect
Systolic heart murmur, Displacement of the papillary muscles, Hepatomegaly, Abnormal P wave, Thir... ORPHA:1329
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Reduced natural killer cell count, Decreased proportion of CD3-positive T cells, Jaundice, Decrea... ORPHA:276
Renal And Mullerian Duct Hypoplasia
Anteriorly displaced urethral meatus, Hydrocele testis, Aplasia of the uterus, Horseshoe kidney, ... OMIM:266810
Mullerian Aplasia And Hyperandrogenism
Aplasia of the vagina, Unilateral renal agenesis, Aplasia of the fallopian tube, Aplasia of the u... OMIM:158330
Partial Androgen Insensitivity Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, Aplasia of the ovary, Bifid scrotum, Fused labia m... ORPHA:90797
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Myoectodermal Gonadal Dysgenesis Syndrome
Bifid distal phalanx of the thumb, Cutaneous finger syndactyly, Hip dysplasia, Hypoplastic labia ... OMIM:618419
Mulibrey Nanism
Pericardial constriction, Myocardial fibrosis, Thickened cortex of long bones, Hepatomegaly, Card... OMIM:253250
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism, Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, ... ORPHA:324410
Complete Androgen Insensitivity Syndrome
Bilateral cryptorchidism, Aplasia of the uterus, Abnormal uterine cervix morphology, Aplasia/Hypo... ORPHA:99429
Cirrhotic Cardiomyopathy
Elevated pulmonary artery pressure, Left ventricular diastolic dysfunction, Third heart sound, Re... ORPHA:57777
Renal Cysts And Diabetes Syndrome
Pancreatic hypoplasia, Atretic vas deferens, Bicornuate uterus, Stage 5 chronic kidney disease, G... OMIM:137920
Linear Skin Defects With Multiple Congenital Anomalies 1
Histiocytoid cardiomyopathy, Ventricular septal defect, Atrial septal defect, Hypospadias, Hypopl... OMIM:309801
Stormorken Syndrome
Asplenia, Anemia, Howell-Jolly bodies, Hematuria, Thrombocytopenia, Hypoplastic spleen OMIM:185070
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Congenital Toxoplasmosis
Cardiomegaly, Hepatomegaly ORPHA:858
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly OMIM:600649
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Short distal phalanx of finger, Clinodactyly, Decreased response to growth hormone stimulation te... OMIM:615866
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen, Micropenis OMIM:602361
Aromatase Deficiency
Female pseudohermaphroditism, Ovarian cyst, Hypergonadotropic hypogonadism OMIM:613546
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Short phalanx of finger, Hip subluxation, Triangular shaped distal phalanges of the hand, Short m... OMIM:271665
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Metaphyseal irregularity, Advanced ossification of carpal bones, Short femoral neck, Metaphyseal ... OMIM:610442
Histiocytosis-Lymphadenopathy Plus Syndrome
Camptodactyly of finger, Hallux valgus, Camptodactyly, Hepatosplenomegaly, Hepatomegaly, Splenome... OMIM:602782
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly OMIM:619064
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Pure red cell aplasia, Lymphopenia, Autoimm... OMIM:613179
Familial Idiopathic Dilatation Of The Right Atrium
Complete heart block with narrow QRS complexes, Abnormal cardiac ventricular function, Paroxysmal... ORPHA:1677
Lethal Congenital Contracture Syndrome 10
Hypoplasia of the thymus, Ventricular septal defect, Short long bone, Femoral bowing, Adducted th... OMIM:617022
Congenital Tricuspid Valve Dysplasia
Patent foramen ovale, Cardiomegaly, Pericardial effusion, Abnormal tricuspid valve leaflet morpho... ORPHA:555874
Danon Disease
Second degree atrioventricular block, Increased QRS voltage, Severely reduced left ventricular ej... OMIM:300257
Carnitine Deficiency, Systemic Primary
Endocardial fibroelastosis, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Hepatomegaly, Car... OMIM:212140
Naxos Disease
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Abnormal morph... OMIM:601214
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Short tibia, Short toe, Short phalanx of finger, Absent toe, Short metacarpal, Absent tibia, Camp... OMIM:612576
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614702
Cardiac-Urogenital Syndrome
2-3 toe syndactyly, Ambiguous genitalia, Cor triatrium sinister, Pericardial effusion, Patent ura... OMIM:618280
Bardet-Biedl Syndrome 1
Hypogonadism, Foot polydactyly, Decreased testicular size, Abnormality of the ovary, Left ventric... OMIM:209900
Cantú Syndrome
Cardiomegaly, Coxa valga, Finger syndactyly, Hypertrophic cardiomyopathy, Short hallux, Short dis... ORPHA:1517
Lumbar Syndrome
Vesicoureteral reflux, Ambiguous genitalia, Bifid scrotum, Hypoplastic labia majora, Hypospadias,... ORPHA:83628
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Nephrotic syndrome, Hematuria, Distal renal tubular acidosis, Proximal renal tubular acidosis, Se... OMIM:146255
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Vesicoureteral reflux, Polycystic kidney dysplasia, Unilateral renal agenesis, Vaginal atresia, A... ORPHA:2237
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Hydronephrosis, Urethral atresia, Short ribs, Missing ribs, Absent external genitalia, Aplasia of... OMIM:271520
Refsum Disease, Classic
Short fourth metatarsal, Cardiomegaly, Abnormal renal physiology, Cardiomyopathy OMIM:266500
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Ambiguous genitalia, Humeroradial synostosis, Narrow pelvis bone, Camptodactyly, Metatarsal synos... ORPHA:95699
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Abnormal spermatogenesis, Azoospermia, Male hypogonadism, Abnormality ... OMIM:228300
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:619051
Bent Bone Dysplasia Syndrome 2
Short tibia, Hypoplastic iliac wing, Short sternum, Hypoplastic acetabulae, Short 1st metacarpal,... OMIM:620076
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly, Oligosacchariduria ORPHA:3137
Lethal Acantholytic Erosive Disorder
Impaired myocardial contractility, 2-3 finger syndactyly, 4-5 finger syndactyly, Camptodactyly of... ORPHA:158687
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Unilateral renal agenesis, Ectopic kidney, Aplasia of the uterus, Horse... ORPHA:3109
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
Woodhouse-Sakati Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Decreased testicular size, Hypopl... OMIM:241080
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
11 pairs of ribs, Shoulder dislocation, Genu valgum, Patent foramen ovale, Hallux valgus, Spatula... OMIM:245600
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Abnormal metaphysis morphology, Long fibula ORPHA:935
Thrombocytopenia-Absent Radius Syndrome
Short phalanx of finger, Atrioventricular canal defect, Absent thumb, Coxa valga, Hip dislocation... OMIM:274000
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Ambiguous genitalia, Humeroradial synostosis, Vesicovaginal fistula, Camptodactyly, Ovarian cyst,... OMIM:201750
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Hypoplasminogenemia
Abnormal fallopian tube morphology, Abnormality of the ovary, Nephrolithiasis, Cervicitis ORPHA:722
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Abno... ORPHA:465508
Woodhouse-Sakati Syndrome
Abnormal spermatogenesis, Decreased response to growth hormone stimulation test, Hypogonadism, De... ORPHA:3464
Tropical Endomyocardial Fibrosis
Systolic heart murmur, Restrictive cardiomyopathy, Coronary artery stenosis, Left ventricular dia... ORPHA:75565
Mogs-Cdg
External genital hypoplasia, Left ventricular hypertrophy, Hydrocele testis, Atrial septal defect... ORPHA:79330
Aorta Coarctation
Pulmonary arterial hypertension, Aortic valve atresia, Perimembranous ventricular septal defect, ... ORPHA:1457
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Dicarboxylic aciduria, Renal tubular acidosis, Hepatomegaly OMIM:255120
Oeis Complex
11 pairs of ribs, Absent scrotum, Vesicovaginal fistula, Ambiguous genitalia, female, Hydroureter... OMIM:258040
Familial Adenomatous Polyposis 4
Renal cyst, Ovarian cyst, Uterine leiomyoma OMIM:617100
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomegaly, Dicarboxylic aciduria, Hepatomegaly, Elevated urinary 3-hydroxybutyric acid ORPHA:42
Mirage Syndrome
Leukopenia, Anemia, Microphallus, Lymphopenia, Hypospadias, Thrombocytopenia, Hypoplastic spleen OMIM:617053
Blepharophimosis, Ptosis, And Epicanthus Inversus
Increased circulating gonadotropin level, Hypoplasia of the uterus OMIM:110100
Heterotaxy, Visceral, 1, X-Linked
Subvalvular aortic stenosis, Atrioventricular canal defect, Hepatomegaly, Right atrial isomerism,... OMIM:306955
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Precocious puberty in females, Increased urinary 11-deoxycorticosterone level, Adrenocorticotropi... ORPHA:90793
Leigh Syndrome With Nephrotic Syndrome
Tubulointerstitial nephritis, Renal tubular acidosis, Nephrotic syndrome, Renal cyst, Cardiomegal... ORPHA:255249
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Beck-Fahrner Syndrome
Hip dysplasia, Cardiomegaly, Ventricular septal defect OMIM:618798
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Tapered toe, Tapered finger, Enlarged kidney, Polycystic kidney dysplasia, Long-chain dicarboxyli... OMIM:608836
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Pericardial effusion, Enlarged kidney, T-wave inversion, ST segment depression, Cong... OMIM:261740
Phocomelia, Schinzel Type
Foot oligodactyly, Humeroradial synostosis, Hypoplasia of the radius, Radial bowing, Hypoplasia o... ORPHA:2879
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Exercise-induced myoglobinuria, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Hepatomegaly,... OMIM:201475
Townes-Brocks Syndrome 2
Vesicoureteral reflux, Crossed fused renal ectopia, Hypospadias, Bifid uterus, Rectovaginal fistula OMIM:617466
Peters-Plus Syndrome
Hypoplastic labia majora, Square pelvis bone, Short palm, Hypoplasia of the uterus, Short toe, Ve... OMIM:261540
Developmental And Epileptic Encephalopathy 95
Cardiomegaly, Short 4th metacarpal, Short digit, Clinodactyly of the 5th finger, Short distal pha... OMIM:618143
Amyloidosis, Hereditary, Transthyretin-Related
Urinary incontinence, Cardiomegaly, Cardiomyopathy OMIM:105210
Idiopathic Pulmonary Hemosiderosis
Cardiomegaly, Glomerulonephritis, Hepatomegaly, Hepatosplenomegaly ORPHA:99931
Yunis-Varon Syndrome
Aplasia of the 1st metacarpal, Absent thumb, Aplasia of the distal phalanges of the hand, Tapered... ORPHA:3472
Gaucher Disease, Type Iiic
Splenomegaly, Mitral stenosis, Hepatomegaly, Cardiomegaly, Aortic valve calcification, Mitral val... OMIM:231005
Meckel Syndrome 14
Ambiguous genitalia, Polycystic kidney dysplasia, Postaxial foot polydactyly, Syndactyly, Aplasia... OMIM:619879
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal concentration of acylcarnitine in the urine ORPHA:391428
Mucolipidosis Ii Alpha/Beta
Hip subluxation, Splenomegaly, Cardiomegaly, Coxa valga, Bullet-shaped phalanges of the hand, Sho... OMIM:252500
Schinzel-Giedion Midface Retraction Syndrome
Hypoplastic labia majora, Thickened cortex of long bones, Postaxial hand polydactyly, Short stern... OMIM:269150
Craniofaciofrontodigital Syndrome
Ventricular septal defect, Finger joint hypermobility, Pericardial effusion, Bicuspid aortic valv... ORPHA:363705
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Thin metatarsal cortices, Slender long bone, Thin metacarpal cortices, Arachnodactyly, Cardiomega... ORPHA:2463
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Humeroradial synostosis, Aplasia/hypoplasia of the femur, Hip dislocation, Phocomelia, Aplasia/Hy... OMIM:276820
Chromosome 17Q12 Deletion Syndrome
Unicornuate uterus, Aplasia of the vagina, Upper limb undergrowth, Multicystic kidney dysplasia, ... OMIM:614527
Beckwith-Wiedemann Syndrome
Vesicoureteral reflux, Gonadoblastoma, Renal cortical cysts, Pancreatic hyperplasia, Nephrocalcin... OMIM:130650
Peters Plus Syndrome
Short toe, Hydronephrosis, Multicystic kidney dysplasia, Abnormal cardiac septum morphology, Toe ... ORPHA:709
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Abnormal urine potassium concentration, Urogenital sinus anomaly, Adrenocorticotropic hormone exc... ORPHA:168558
Sickle Cell Disease
Hematuria, Hepatomegaly, Cholelithiasis, Cardiomegaly, Renal insufficiency, Splenomegaly OMIM:603903
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Abnormal urine potassium concentration, Urogenital sinus anomaly, Adrenocorticotropic hormone exc... ORPHA:289548
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Lacrimal gland aplasia, Polycystic ovaries, Elevated circulating follicle stimulating hormone lev... ORPHA:572333
Pseudo-Torch Syndrome 3
Acute kidney injury, Cardiomegaly, Proteinuria OMIM:618886
Pearson Syndrome
Anemia, Abnormality of the liver, Renal insufficiency, Glycosuria, Macronodular cirrhosis, Reticu... ORPHA:699
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Tubulointerstitial nephritis, Polycystic kidney dysplasia, Cystic renal dysplasia, Dicarboxylic a... ORPHA:228308
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Townes-Brocks Syndrome 1
2-3 toe syndactyly, 2-4 finger syndactyly, Clinodactyly of the 5th toe, Metatarsal synostosis, Bi... OMIM:107480
Paternal Uniparental Disomy Of Chromosome 6
Precocious puberty, Ventricular septal defect, Labial hypertrophy, Hepatomegaly, Cryptorchidism, ... ORPHA:96191
Fucosidosis
Coxa valga, Glycopeptiduria, Hepatomegaly, Oligosacchariduria, Cardiomegaly, Splenomegaly OMIM:230000
Agammaglobulinemia, X-Linked
Anemia, T lymphocytopenia, B lymphocytopenia, Enteroviral hepatitis, Hepatocellular carcinoma, Ly... OMIM:300755
Fucosidosis
Cardiomegaly, Mucopolysacchariduria, Hepatomegaly ORPHA:349
Sandhoff Disease
Urinary incontinence, Cardiomegaly, Hepatomegaly, Hepatosplenomegaly OMIM:268800
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, 3-Methylglutaconic aciduria, Cardiomyopathy OMIM:619259
Ulbright-Hodes Syndrome
Short sternum, Abnormal external genitalia, Humeroradial synostosis, Short ribs, Short metacarpal... ORPHA:3404
Mucopolysaccharidosis Type 3
Genu valgum, Avascular necrosis of the capital femoral epiphysis, Abnormal mitral valve morpholog... ORPHA:581
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Oligosacchariduria, Hepatomegaly, Card... ORPHA:308552
Exstrophy-Epispadias Complex
Vesicoureteral reflux, Urinary incontinence, Bladder exstrophy, Absent penis, Bifid scrotum, Peno... ORPHA:322
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Patent foramen ovale, Hallux valgus, Ventricular septal defect, Pineal cyst, Left ventricular non... OMIM:300967
Gaucher Disease, Perinatal Lethal
Cardiomegaly, Splenomegaly, Hepatomegaly, Hepatosplenomegaly OMIM:608013
Congenital Disorder Of Glycosylation, Type It
Ventricular septal defect, Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly, Hydronephrosis OMIM:614921
Limb-Mammary Syndrome
Aplasia of the ovary, Toe syndactyly, 3-4 finger cutaneous syndactyly, Clinodactyly of the 5th fi... ORPHA:69085
Histiocytoid Cardiomyopathy
Ventricular septal defect, Renal cyst, Polycystic ovaries, Hepatomegaly, Cardiomegaly ORPHA:137675
Truncus Arteriosus
Hypoplasia of the thymus, Truncus arteriosus, Ventricular septal defect, Transposition of the gre... ORPHA:3384
Ogden Syndrome
Metatarsus valgus, Patent foramen ovale, Ventricular septal defect, Perimembranous ventricular se... OMIM:300855
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Dilated cardiomyopathy, Renal artery stenosis OMIM:208000
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Partial atrioventricular canal defect, Ventricular septal defect, Bicuspid aortic valve, Secundum... OMIM:620066
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hip dysplasia, Clinodactyly of the 5th finger, Unilateral renal agenesis, Broad hallux, Aplasia o... ORPHA:457284
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Right ventricular hypertrophy, Pollakisuria ORPHA:268
Turner Syndrome Due To Structural X Chromosome Anomalies
Short sternum, Short toe, Genu valgum, High urinary gonadotropin level, Short 4th metacarpal, Sho... ORPHA:99413
Turner Syndrome
Short sternum, Short toe, Genu valgum, High urinary gonadotropin level, Short 4th metacarpal, Sho... ORPHA:881
Mosaic Monosomy X
Short sternum, Short toe, Genu valgum, High urinary gonadotropin level, Short 4th metacarpal, Sho... ORPHA:99228
Monosomy X
Short sternum, Short toe, Genu valgum, High urinary gonadotropin level, Short 4th metacarpal, Sho... ORPHA:99226
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Proteasome-Associated Autoinflammatory Syndrome 1
Camptodactyly of finger, Finger swelling, Elevated circulating thyroid-stimulating hormone concen... OMIM:256040
Craniorachischisis
Bifid sternum ORPHA:63260
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Urogenital sinus anomaly, Premature fusion of the radial epiphyseal plates, Ambiguous genitalia, ... ORPHA:90794
Coffin-Lowry Syndrome
Coxa valga, Tapered finger, Short metacarpal, Hyperextensibility of the finger joints, Narrow ili... OMIM:303600
Glycogen Storage Disease Ii
Urinary incontinence, Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:232300
Williams Syndrome
Precocious puberty, Hallux valgus, Abnormal cardiac septum morphology, Hypertrophic cardiomyopath... ORPHA:904
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Unilateral brachydactyly, Supernumerary nipple, Syndactyly, Bifid uterus, Abnormal reproductive s... ORPHA:1521
Beckwith-Wiedemann Syndrome
Vesicoureteral reflux, Gonadoblastoma, Congenital megaureter, Enlarged kidney, Hypertrophic cardi... ORPHA:116
Congenital Tracheomalacia
Ventricular septal defect, Single ventricle, Atrial septal defect, Abnormal heart morphology, Par... ORPHA:95430
Bohring-Opitz Syndrome
Urinary retention, Abnormal cardiac septum morphology, Annular pancreas, Cardiomegaly, Metacarpop... ORPHA:97297
Hydrolethalus Syndrome 1
Upper limb undergrowth, Preaxial hand polydactyly, Ventricular septal defect, Proximal tibial hyp... OMIM:236680
Okamoto Syndrome
Polydactyly, Urinary incontinence, Ventricular septal defect, Abnormal mitral valve morphology, H... ORPHA:2729
Wolf-Hirschhorn Syndrome
Preaxial hand polydactyly, Precocious puberty, Ventricular septal defect, Pseudoepiphyses of the ... OMIM:194190
Absence Of The Pulmonary Artery
Patent foramen ovale, Truncus arteriosus, Abnormal cardiac septum morphology, Atrial septal defec... ORPHA:980
Fanconi Anemia, Complementation Group L
Absent thumb, Unilateral renal agenesis, Aplasia of the uterus, Absent radius, Renal hypoplasia, ... OMIM:614083
Coffin-Siris Syndrome 1
Coxa valga, Dislocated radial head, Aplasia/Hypoplasia of the patella, Short sternum, Ventricular... OMIM:135900
Singleton-Merten Syndrome 1
Osteolytic defects of the phalanges of the hand, Hip subluxation, Genu valgum, Subvalvular aortic... OMIM:182250
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Cardiomegaly, Bicuspid aortic valve, Arachnodactyly ORPHA:91387
Pontocerebellar Hypoplasia Type 7
Ambiguous genitalia, Absent penis, Microphallus, Aplasia of the uterus, Gonadal dysgenesis, Abnor... ORPHA:284339
Congenital Total Pulmonary Venous Return Anomaly
Supracardiac total anomalous pulmonary venous connection, Hepatomegaly, Tricuspid regurgitation, ... ORPHA:99125
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Cardiomegaly, Hepatomegaly, Hepatosplenomegaly OMIM:618278
Glycogen Storage Disease Due To Acid Maltase Deficiency
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Oligosacchariduria, Hepatomegaly, Card... ORPHA:365
Liver Disease, Severe Congenital
Subvalvular aortic stenosis, Patent foramen ovale, Aminoaciduria, Dilatation of the ventricular c... OMIM:619991
Neu-Laxova Syndrome 1
Patent foramen ovale, Finger syndactyly, Ventricular septal defect, Toe syndactyly, Clinodactyly,... OMIM:256520
Aicardi-Goutières Syndrome
Hypertrophic cardiomyopathy, Cardiomegaly, Micropenis, Hepatosplenomegaly ORPHA:51
Abetalipoproteinemia
Cardiomegaly, Hepatomegaly ORPHA:14
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Ehlers-Danlos Syndrome, Vascular Type
Osteolytic defects of the phalanges of the hand, Foot acroosteolysis, Cervical insufficiency, Fin... OMIM:130050
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Pancreatic calcification, Stippled calcification of the shoulder, Perica... ORPHA:51608
Pallister-Killian Syndrome
Short phalanx of finger, Hip dislocation, Hypoplastic labia majora, Supernumerary nipple, Hypertr... OMIM:601803
Loeys-Dietz Syndrome
Camptodactyly of finger, Uterine rupture, Arachnodactyly ORPHA:60030
Vascular Ehlers-Danlos Syndrome
Mitral valve prolapse, Uterine rupture, Bladder diverticulum, Congenital hip dislocation, Hypospa... 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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