banner
Genes Phenotypes Help, News, Blog

Gene: Hectd3 MGI:1923858

Log in to follow

Gene Summary

Name:
HECT domain E3 ubiquitin protein ligase 3
Synonyms:
1700064K09Rik

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
decreased grip strength Hectd3tm1(NCOM)Cmhd HOM Early adult 4.67×10-11
increased cardiac muscle contractility Hectd3tm1(NCOM)Cmhd HOM Early adult 8.53×10-05
decreased brain size Hectd3tm1(NCOM)Cmhd HOM Early adult 0.00
small liver Hectd3tm1(NCOM)Cmhd HOM Early adult 0.00
abnormal bone structure Hectd3tm1(NCOM)Cmhd HOM Early adult 4.26×10-09
male infertility Hectd3tm1(NCOM)Cmhd HOM Early adult 0.00
decreased body length Hectd3tm1(NCOM)Cmhd HOM Early adult 1.24×10-07
decreased bone mineral density Hectd3tm1(NCOM)Cmhd HOM Early adult 1.09×10-20
small lung Hectd3tm1(NCOM)Cmhd HOM Early adult 0.00
small spleen Hectd3tm1(NCOM)Cmhd HOM Early adult 0.00
female infertility Hectd3tm1(NCOM)Cmhd HOM Early adult 0.00
small stomach Hectd3tm1(NCOM)Cmhd HOM Early adult 0.00
small thymus Hectd3tm1(NCOM)Cmhd HOM Early adult 0.00
small heart Hectd3tm1(NCOM)Cmhd HOM Early adult 0.00
increased total body fat amount Hectd3tm1(NCOM)Cmhd HOM Early adult 1.52×10-05
decreased bone mineral content Hectd3tm1(NCOM)Cmhd HOM Early adult 8.12×10-16

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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.

Phenotype associated images not available

Human diseases caused by Hectd3 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 Hectd3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... OMIM:613495
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections OMIM:242870
Premature Ovarian Failure 2B
Primary amenorrhea, Premature ovarian insufficiency, Osteoporosis, Female infertility OMIM:300604
Immunodeficiency 35
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... OMIM:611521
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Increased ci... OMIM:605258
Hyperprolactinemia
Female infertility, Menorrhagia, Oligomenorrhea, Increased circulating prolactin concentration OMIM:615555
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Decreased circulating total IgM, Recurrent bacterial infections... OMIM:613493
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Spermatogenic Failure, X-Linked, 6
Male infertility, Recurrent pneumonia, Coiled sperm flagella, Reduced sperm motility, Absent sper... OMIM:301101
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Agammaglobulinemia, Decreased circulating ... OMIM:613500
Primary Ciliary Dyskinesia
Male infertility, Recurrent sinopulmonary infections, Atrial situs ambiguous, Abnormal atrial arr... ORPHA:244
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Alpha-1-Antitrypsin Deficiency
Elevated hepatic transaminase, Chronic bronchitis, Hepatocellular carcinoma, Splenomegaly, Panaci... OMIM:613490
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size ORPHA:98797
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Persistent Mullerian Duct Syndrome, Types I And Ii
Bilateral cryptorchidism, Inguinal hernia, Male infertility OMIM:261550
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Ciliary Dyskinesia, Primary, 37
Dextrocardia, Female infertility, Situs inversus totalis, Bronchiectasis, Goiter OMIM:617577
Nphp3-Related Meckel-Like Syndrome
Intestinal malrotation, Abnormality of the pancreas, Abnormal liver parenchyma morphology, Pulmon... ORPHA:3032
Microphthalmia, Syndromic 12
Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, Cryptorchidis... OMIM:615524
Classic Galactosemia
Elevated hepatic transaminase, Hepatomegaly, Male infertility, Premature ovarian insufficiency, D... ORPHA:79239
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Omphalocele, Intestinal malrotation, Congenital diaphragmatic hernia, Pulmonary hypoplasia, Decre... OMIM:601163
Bronchogenic Cyst
Abnormal peritoneum morphology, Pulmonary cyst, Abnormal pericardium morphology, Pneumonia, Abnor... ORPHA:2357
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Chronic bronchitis, ... OMIM:620356
Premature Ovarian Failure 6
Premature ovarian insufficiency, Streak ovary, Female infertility, Elevated circulating luteinizi... OMIM:612310
Hepatoportal Sclerosis
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Portal hypertension, Nodular regenera... ORPHA:64743
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility, Elevated circulating follicle stimulating hormone level... OMIM:619938
Alg3-Cdg
Osteopenia, Abnormality of the gastrointestinal tract, Lipodystrophy, Cardiomyopathy, Macroglossi... ORPHA:79321
Premature Ovarian Failure 13
Amenorrhea, Elevated circulating follicle stimulating hormone level, Female infertility, Oligomen... OMIM:617442
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia, Dextrocardia, Male infertility, Situs inversus totalis OMIM:618948
Aromatase Deficiency
Osteopenia, Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Femal... ORPHA:91
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size ORPHA:98798
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... OMIM:619313
Lethal Congenital Contracture Syndrome 11
Flexion contracture, Elbow flexion contracture, Distal arthrogryposis, Pulmonary hypoplasia, Camp... OMIM:617194
Mirage Syndrome
Hypergonadotropic hypogonadism, Radial club hand, Cryptorchidism, Thrombocytopenia, Esophageal st... OMIM:617053
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Bicuspid aortic valve, Intestinal malrotation, Congenital diaphragmatic hern... ORPHA:2847
Ciliary Dyskinesia, Primary, 14
Male infertility, Recurrent respiratory infections, Chronic bronchitis, Situs inversus totalis, R... OMIM:613807
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Pulmonary hyp... OMIM:614096
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Situs inversus totalis, Abnorma... OMIM:615415
Ring Chromosome Y Syndrome
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab... ORPHA:261529
Microcephalic Primordial Dwarfism, Montreal Type
Lipoatrophy, Cryptorchidism, Congenital pyloric atresia, Reduced bone mineral density, Shagreen p... ORPHA:2617
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Unilateral wrist flexion contracture, Knee flexion contracture, Pulmonary hypoplasia, Arthrogrypo... OMIM:616531
Microphthalmia, Syndromic 9
Inguinal hernia, Truncus arteriosus, Ventricular septal defect, Congenital diaphragmatic hernia, ... OMIM:601186
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Omphalocele, Decreased skull ossification, Pulmonary hypoplasia, Congenital diaphragmatic hernia ORPHA:2141
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility, Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recur... OMIM:300991
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Omphalocele, Abnormally ossified vertebrae, Intestinal malrotation, Splenomegaly, Pulmonary hypop... ORPHA:3035
Achondrogenesis Type 2
Delayed vertebral ossification, Absent vertebral body mineralization, Delayed proximal femoral ep... ORPHA:93296
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Hip contracture, Ankle flexion contracture, Flexion contracture, Elbow flexion contracture, Knee ... OMIM:617468
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Atrial septal defect, Pancreatic fibrosis, Intestinal malrotation, Malformation of ... OMIM:208540
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Hypoplastic spleen, Patent foramen ovale, Dysphagia ORPHA:89844
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly... ORPHA:157798
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen... OMIM:301068
Gillessen-Kaesbach-Nishimura Syndrome
Omphalocele, Congenital diaphragmatic hernia, Flexion contracture, Abnormal lung lobation, Abnorm... OMIM:263210
Systemic Sclerosis
Flexion contracture, Intestinal bleeding, Interstitial cardiac fibrosis, Gastroesophageal reflux,... ORPHA:90291
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Omphalocele, Mesenteric cyst, Recurrent respiratory infections, Ventricular septal defect, Intest... OMIM:618316
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Pulmonary hypoplasia, Abnormal lung lobation, Camptodactyly of finger, Cleft palate ORPHA:2631
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Multiple prenatal fractures, Flexion contracture, Pulmonary hypoplasia, Dysphagia, Arthrogryposis... OMIM:616867
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Fractured radius, Ventricular septal defect, Cardiomegaly, Multiple prenatal fracture... OMIM:616897
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Osteopenia, Joint laxity, Posterolateral diaphragmatic hernia, Inguinal hernia,... OMIM:613177
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology, Cryptorchidism, Acute leukemia, Hypogonadism, Testicular seminoma ORPHA:281090
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor, Megaloblastic anemia OMIM:243320
Ciliary Dyskinesia, Primary, 18
Male infertility, Chronic bronchitis, Situs inversus totalis, Recurrent sinusitis, Immotile sperm... OMIM:614874
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Spermatogenic Failure 38
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... OMIM:618433
Renal Tubular Dysgenesis
Joint hyperflexibility, Tetralogy of Fallot, Pulmonary hypoplasia ORPHA:3033
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hepatomegaly, Omphalocele, Pancreatic fibrosis, Craniosynostosis, Hypoplasia o... OMIM:200995
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen, Decreased skull ossification, Ankyloglossia OMIM:602361
Scimitar Syndrome
Heart block, Abnormal lung morphology, Pulmonary artery hypoplasia, Hernia, Atrial septal defect,... ORPHA:185
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Hepatomegaly, Abnormality of the gastrointestinal tract, Primary testicular fai... ORPHA:85450
Coenzyme Q10 Deficiency, Primary, 8
Left ventricular hypertrophy, Hypertension, Flexion contracture, Pulmonary hypoplasia OMIM:616733
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Coile... OMIM:620197
Matthew-Wood Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Abnormal lung morphology, Aplasia/Hypoplasia of ... ORPHA:2470
Tonne-Kalscheuer Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Velopharyngeal insufficiency, Abnormal heart mor... OMIM:300978
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia, Eleva... OMIM:620103
Kagami-Ogata Syndrome
Omphalocele, Hepatomegaly, Inguinal hernia, Ventricular septal defect, Splenomegaly, Flexion cont... OMIM:608149
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... OMIM:619949
Ciliary Dyskinesia, Primary, 9
Male infertility, Pneumonia, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis OMIM:612444
Lipodystrophy, Congenital Generalized, Type 2
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Cystic angiomatosis of bone, Lip... OMIM:269700
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Ciliary Dyskinesia, Primary, 45
Male infertility, Recurrent respiratory infections, Bronchiectasis OMIM:618801
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia OMIM:619887
Pulmonary Hypoplasia, Primary
Pulmonary hypoplasia OMIM:265430
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Marden-Walker Syndrome
Inguinal hernia, Dextrocardia, Cryptorchidism, High, narrow palate, Pyloric stenosis, Cleft palat... OMIM:248700
Mitochondrial Complex I Deficiency, Nuclear Type 35
Cardiomyopathy, Pulmonary hypoplasia, Pulmonary arterial hypertension OMIM:619003
Ovarian Dysgenesis 3
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... OMIM:614324
Lethal Congenital Contracture Syndrome Type 1
Abnormal cortical bone morphology, Pulmonary hypoplasia, Recurrent fractures, Limitation of joint... ORPHA:1486
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Bicuspid aortic valve, Myocardial infarction, High, narrow palate, Reduced bone miner... ORPHA:99413
Turner Syndrome
Osteopenia, Bicuspid aortic valve, Myocardial infarction, High, narrow palate, Reduced bone miner... ORPHA:881
Mosaic Monosomy X
Osteopenia, Bicuspid aortic valve, Myocardial infarction, High, narrow palate, Reduced bone miner... ORPHA:99228
Monosomy X
Osteopenia, Bicuspid aortic valve, Myocardial infarction, High, narrow palate, Reduced bone miner... ORPHA:99226
Lipodystrophy, Congenital Generalized, Type 1
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Cystic angiomatosis of bone, Lip... OMIM:608594
Cardiac-Urogenital Syndrome
Congenital diaphragmatic hernia, Atrial septal defect, Scimitar anomaly, Mesocardia, Accessory sp... OMIM:618280
Ciliary Dyskinesia, Primary, 34
Male infertility, Bronchiectasis, Recurrent sinusitis, Immotile sperm, Recurrent bronchitis OMIM:617091
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Multiple prenatal fractures, Secundum atrial septal defect, Congestive heart failure, Flexion con... OMIM:616866
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia OMIM:301060
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Female infertility OMIM:619518
Intrinsic Factor Deficiency
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... OMIM:261000
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hematemesis, Esophageal varix,... OMIM:263200
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Congenital Myopathy 1B, Autosomal Recessive
Joint laxity, Recurrent respiratory infections, Increased connective tissue, High palate, Pulmona... OMIM:255320
Lethal Congenital Contracture Syndrome 10
Omphalocele, Stiff neck, Ventricular septal defect, Overriding aorta, Cardiomegaly, Narrow palate... OMIM:617022
Pearson Syndrome
Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hep... ORPHA:699
Ciliary Dyskinesia, Primary, 19
Male infertility, Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recur... OMIM:614935
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... OMIM:110100
Cystic Fibrosis
Male infertility, Hepatomegaly, Meconium ileus, Recurrent bronchopulmonary infections, Rectal pro... OMIM:219700
Stormorken Syndrome
Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Asplenia, Anemia, Hypoplastic spleen, Th... OMIM:185070
Diaphanospondylodysostosis
Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Inguinal hernia... OMIM:608022
Fetal Akinesia Deformation Sequence
Intestinal hypoplasia, Multiple joint contractures, Camptodactyly of finger, Cryptorchidism, Clef... ORPHA:994
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Intestinal malrotation, Hiatus hernia, Abnormality of the spleen, Esophageal atresi... ORPHA:2538
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Pulmonary hypoplasia OMIM:615228
Serkal Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Malrotation of small bowel, Pulmonary... ORPHA:139466
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Meier-Gorlin Syndrome 7
Joint laxity, Anal stenosis, Ventricular septal defect, Craniosynostosis, Sagittal craniosynostos... OMIM:617063
Familial Peripheral Male-Limited Precocious Puberty
Macroorchidism, Male infertility, Oligozoospermia ORPHA:3000
Dubin-Johnson Syndrome
Hepatomegaly, Abnormal gastric mucosa morphology, Jaundice, Biliary tract abnormality, Abnormalit... ORPHA:234
Odontochondrodysplasia 1
Recurrent respiratory infections, Osteoporosis, Delayed ossification of carpal bones, Pulmonary h... OMIM:184260
Pentalogy Of Cantrell
Omphalocele, Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Cong... ORPHA:1335
1Q41Q42 Microdeletion Syndrome
Hypergonadotropic hypogonadism, Congenital diaphragmatic hernia, Cryptorchidism, Hyposegmentation... ORPHA:250999
Alg9-Cdg
Omphalocele, Hepatomegaly, Villous atrophy, Tricuspid regurgitation, Ventricular septal defect, L... ORPHA:79328
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Reynolds Syndrome
Hepatomegaly, Telangiectasia of the skin, Abnormal gastric mucosa morphology, Jaundice, Xerostomi... ORPHA:779
Teebi Hypertelorism Syndrome 1
Omphalocele, Ventricular septal defect, Sagittal craniosynostosis, Hydrocele testis, Pulmonary hy... OMIM:145420
Ciliary Dyskinesia, Primary, 1
Male infertility, Pneumonia, Asplenia, Atelectasis, Situs inversus totalis, Bronchiectasis, Recur... OMIM:244400
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, P... ORPHA:731
Distal Triplication 15Q
Craniosynostosis, Flexion contracture, Abnormal heart morphology, Hydrocele testis, High palate, ... ORPHA:314588
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Bloom Syndrome
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Male infertility, Premature... ORPHA:125
Congenital Diaphragmatic Hernia
Pulmonary hypoplasia, Intestinal malrotation, Congenital diaphragmatic hernia ORPHA:2140
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia OMIM:613124
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Cardiomegaly, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Pulmonary hypopla... OMIM:608013
Multiple Pterygium Syndrome, X-Linked
Vertebral fusion, Flexion contracture, Cleft palate, Increased susceptibility to fractures, Hypop... OMIM:312150
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M... ORPHA:2494
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Pulmonary hypoplasia OMIM:618174
Atelosteogenesis Type I
Malrotation of colon, Abnormal ossification involving the femoral head and neck, Cleft palate, Pu... ORPHA:1190
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Larsen-Like Syndrome, Lethal Type
Tracheomalacia, Pulmonary insufficiency, Pulmonary hypoplasia OMIM:245650
Congenital Tracheomalacia
Atrial septal defect, Ventricular septal defect, Pneumonia, Cardiomegaly, Esophageal atresia, Par... ORPHA:95430
Esophageal Atresia
Omphalocele, Recurrent respiratory infections, Barrett esophagus, Ventricular septal defect, Inte... ORPHA:1199
Fryns Syndrome
Omphalocele, Aganglionic megacolon, Intestinal malrotation, Congenital diaphragmatic hernia, Cryp... ORPHA:2059
Greenberg Dysplasia
Hepatomegaly, Recurrent fractures, Multiple prenatal fractures, Costal cartilage calcification, P... OMIM:215140
Spermatogenic Failure 14
Abnormal prolactin level, Azoospermia, Elevated circulating follicle stimulating hormone level, M... OMIM:615842
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility, Abdominal situs inversus, Dextrocardia, Situs inversus totalis OMIM:619607
Truncus Arteriosus
Anomalous origin of one pulmonary artery from ascending aorta, Cardiomegaly, Abnormal lung lobati... ORPHA:3384
Meacham Syndrome
Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Aplasia of the ... OMIM:608978
Multiple Pterygium Syndrome, Lethal Type
Vertebral fusion, Flexion contracture, Cleft palate, Increased susceptibility to fractures, Hypop... OMIM:253290
Spondylospinal Thoracic Dysostosis
Arthrogryposis multiplex congenita, Pulmonary hypoplasia OMIM:601809
Thanatophoric Dysplasia
Atrial septal defect, Joint hyperflexibility, Pulmonary hypoplasia, Joint stiffness ORPHA:2655
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Epiphyseal stippling, Arthrogryposis multiplex congenita, Pulmonary hypoplasia, Abnormal bone str... ORPHA:86822
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Recurrent respiratory infections,... ORPHA:980
Agnathia-Otocephaly Complex
Secundum atrial septal defect, Situs inversus totalis, Aglossia, Cleft palate, Pulmonary hypoplas... OMIM:202650
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Dextrocardia, Esophageal atresia, Tracheoesophageal fistula, Transposition of the great arteries,... OMIM:314390
Pallister-Hall-Like Syndrome
Anterior hypopituitarism, Microglossia, Pulmonary hypoplasia, Cleft palate OMIM:241800
Congenital Tracheal Stenosis
Ventricular septal defect, Abnormal stomach morphology, Abnormal lung morphology, Abnormal lung l... ORPHA:141127
Chromosome 13Q33-Q34 Deletion Syndrome
Cryptorchidism, Pyloric stenosis, Anteriorly placed anus, High palate, Pulmonary hypoplasia, Pulm... OMIM:619148
Peroxisome Biogenesis Disorder 1A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Ventricular septal defect, Protruding tongue, Cryp... OMIM:214100
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
Severe Congenital Nemaline Myopathy
Increased connective tissue, Multiple prenatal fractures, Flexion contracture, Pulmonary hypoplas... ORPHA:171430
Neu-Laxova Syndrome
Osteopenia, Osteomalacia, Flexion contracture, Osteoporosis, Rickets, Submucous cleft hard palate... ORPHA:2671
Meckel Syndrome 14
Tricuspid regurgitation, Pneumothorax, Decreased calvarial ossification, Mitral regurgitation, He... OMIM:619879
Short-Rib Thoracic Dysplasia 12
Omphalocele, Hepatomegaly, Inguinal hernia, Ventricular septal defect, Intestinal malrotation, Ha... OMIM:269860
Meckel Syndrome, Type 6
Absent gallbladder, Bilobed right lung, Cleft palate, Cystic liver disease, Bile duct proliferati... OMIM:612284
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Increased T cell count, ... ORPHA:263665
Maternal Uniparental Disomy Of Chromosome 2
Premature ovarian insufficiency, Decreased response to growth hormone stimulation test, Bilateral... ORPHA:96179
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Dextrocardia, Secundum atrial septal defect, Pneumothorax, Clef... ORPHA:2257
Pagod Syndrome
Omphalocele, Sudden cardiac death, Congenital diaphragmatic hernia, Situs inversus totalis, Abnor... ORPHA:991
Caudal Regression Syndrome
Joint stiffness, Cryptorchidism, Hypertension, Pulmonary hypoplasia, Abnormal vertebral segmentat... ORPHA:3027
Autosomal Recessive Multiple Pterygium Syndrome
Inguinal hernia, Camptodactyly of finger, Cryptorchidism, Limitation of joint mobility, Cleft pal... ORPHA:2990
Fryns Syndrome
Omphalocele, Meckel diverticulum, Ectopic pancreatic tissue, Ventricular septal defect, Aganglion... OMIM:229850
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ventricular septal defect, Congenital diaphragmatic hernia, Pulmonary artery stenosis, Cleft pala... OMIM:611812
Otopalatodigital Syndrome Type 2
Omphalocele, Increased bone mineral density, Abnormal heart valve morphology, Camptodactyly of fi... ORPHA:90652
Czeizel-Losonci Syndrome
Posterolateral diaphragmatic hernia, Dextrocardia, Tracheoesophageal fistula, Aplasia of the left... ORPHA:2437
Chromosome 1Q41-Q42 Deletion Syndrome
Ventricular septal defect, Supernumerary nipple, Congenital diaphragmatic hernia, Cryptorchidism,... OMIM:612530
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Interstitial emphysema, Bronchiectasis, Knee flexion contracture, Inflammation of the large intes... OMIM:619708
Genitopatellar Syndrome
Hip contracture, Cryptorchidism, Knee flexion contracture, Radioulnar synostosis, Gastroesophagea... ORPHA:85201
Dyssegmental Dysplasia, Silverman-Handmaker Type
Cryptorchidism, Flexion contracture, Limitation of joint mobility, Cleft palate, Abnormal heart m... ORPHA:1865
Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Generalized joint laxity, Flexion contracture, Atrial se... ORPHA:536471
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Recurrent respiratory infections, Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts... OMIM:208500
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Proximal phalangeal periosteal thickening, Gastric hypertrophy, Osteolytic defects of the phalang... OMIM:161700
Renal Hypodysplasia/Aplasia 1
Hypertension, Pulmonary hypoplasia, Primary amenorrhea OMIM:191830
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Left-to-right shunt, Ventricular septal defect, Congestive hear... ORPHA:99050
Atelosteogenesis, Type Ii
Pulmonary hypoplasia, Cleft palate OMIM:256050
Nephronophthisis 2
Situs inversus totalis, Hypertension, Pulmonary insufficiency, Pulmonary hypoplasia OMIM:602088
Mosaic Trisomy 1
Omphalocele, Hepatic agenesis, Ventricular septal defect, Camptodactyly of finger, Congenital dia... ORPHA:1692
Multiple Pterygium Syndrome, Escobar Variant
Inguinal hernia, Multiple joint contractures, Congenital diaphragmatic hernia, Cryptorchidism, Dy... OMIM:265000
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Inguinal hernia, Severe B lymphocytopenia, Biliary hyperplasia, Cryptorchidism, Con... ORPHA:83617
Ogden Syndrome
Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Microvesicular hepatic steato... OMIM:300855
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Recurrent fractures, Craniosynostosis, Repeated pneumoth... ORPHA:536467
Tetrasomy 5P
Pericallosal lipoma, Recurrent respiratory infections, Congestive heart failure, Heart murmur, Hi... ORPHA:3309
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis ORPHA:2239
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Elevated circulati... ORPHA:572333
Smith-Lemli-Opitz Syndrome
Gastrointestinal dysmotility, Abnormal lung lobation, Gastroesophageal reflux, Atrial septal defe... OMIM:270400
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Hamartoma of tongue, Esophageal diverticulum, Complete atrioventricular canal... OMIM:617925
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Anal stenosis, Congenital diaphragmatic hernia, Cleft palate, Hydrocele testis, High palate, Gast... OMIM:614080
Stuve-Wiedemann Syndrome 1
Osteoporosis, Pathologic fracture, Elbow flexion contracture, Knee flexion contracture, Dysphagia... OMIM:601559
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Omphalocele, Ventricular septal defect, Pulmonary hypoplasia OMIM:617895
Metachromatic Leukodystrophy
Abnormal stomach morphology, Abnormal gallbladder morphology, Hemobilia, Neoplasm of the gallblad... ORPHA:512
Congenital Myopathy 22B, Severe Fetal
Hip contracture, Hepatomegaly, Limb joint contracture, Shoulder flexion contracture, Achilles ten... OMIM:620369
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Tricuspid regurgitation, Pancreatic fibrosis, Ventricular septal defect, Hamartoma of tongue, Int... OMIM:263520
Tetrasomy 9P
Biliary atresia, High palate, Patent foramen ovale, Bifid uvula, Amelogenesis imperfecta, Absent ... ORPHA:3310
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Arthrogryposis multiplex congenita, Pulmonary hypoplasia OMIM:236500
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male infertility, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Incre... ORPHA:90793
Lethal Congenital Contracture Syndrome 1
Arthrogryposis multiplex congenita, Pulmonary hypoplasia OMIM:253310
Achondrogenesis, Type Ia
Protruding tongue, Abnormal hand bone ossification, Abnormal foot bone ossification, Unossified v... OMIM:200600
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Omphalocele, Hamartoma of tongue, Cryptorchidism, Cleft palate, Lobulated tongue, Pulmonary hypop... OMIM:616300
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Jaundice, Pulmonary hypoplasia, Hepatic periportal necrosis, Hepatic steatosis OMIM:231680
Fanconi Anemia, Complementation Group A
Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Reticulocytopenia... OMIM:227650
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short uvula, Cleft palate, High palate, Hepatic fibrosis, Pulmonary hypoplasia OMIM:614091
47,Xyy Syndrome
Male infertility, Cryptorchidism, Increased circulating gonadotropin level, Oligozoospermia, Azoo... ORPHA:8
Meckel Syndrome, Type 1
Accessory spleen, Omphalocele, Camptodactyly of finger, Malformation of the hepatic ductal plate,... OMIM:249000
Raine Syndrome
Increased bone mineral density, Protruding tongue, Cleft palate, Subperiosteal bone formation, Hi... OMIM:259775
46,Xy Partial Gonadal Dysgenesis
Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing ... ORPHA:251510
Osteogenesis Imperfecta
Osteopenia, Osteoarthritis, Flexion contracture, Decreased skull ossification, Abnormal dental en... ORPHA:666
Dpagt1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Prolonged QT interval, Lipodystrophy, Flexion contra... ORPHA:86309
Neurodegeneration And Seizures Due To Copper Transport Defect
Pneumothorax, Tricuspid regurgitation, Pulmonary hypoplasia, Cardiomegaly OMIM:620306
Acro-Renal-Mandibular Syndrome
Aplasia/Hypoplasia of the tongue, Congenital diaphragmatic hernia, Abnormal lung lobation, Trache... ORPHA:958
Vacterl With Hydrocephalus
Inguinal hernia, Femoral hernia, Cryptorchidism, Esophageal atresia, Tracheoesophageal fistula, P... ORPHA:3412
Schinzel-Giedion Syndrome
Inguinal hernia, Streak ovary, Myeloid leukemia, Aganglionic megacolon, Recurrent pneumonia, Dysp... ORPHA:798
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Flexion contracture, Epiphyseal stippling, Abnormal cardiac septum morphology, Pulmonary hypoplas... OMIM:308050
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... ORPHA:99125
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Decreased cranial base ossification, Pulmonary hypoplasia OMIM:151210
Williams Syndrome
Osteopenia, Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Rectal prolapse, Gastroes... ORPHA:904
Fontaine Progeroid Syndrome
Reduced subcutaneous adipose tissue, Atrial septal defect, Absent nipple, Bicuspid aortic valve, ... OMIM:612289
Tarp Syndrome
Extramedullary hematopoiesis, Cryptorchidism, Cleft palate, Tongue nodules, Glossoptosis, Pulmona... ORPHA:2886
Thoracoabdominal Syndrome
Omphalocele, Ventral hernia, Congenital diaphragmatic hernia, Cleft palate, Transposition of the ... OMIM:313850
Distal Deletion 15Q
Bicuspid aortic valve, Mitral atresia, Congenital diaphragmatic hernia, Double outlet right ventr... ORPHA:1596
Diaphragmatic Hernia 4, With Cardiovascular Defects
Hepatomegaly, Ventricular septal defect, Cryptorchidism, Aortopulmonary window, Pulmonary artery ... OMIM:620025
Microcephaly-Micromelia Syndrome
Cleft palate, Humeroradial synostosis, Pulmonary hypoplasia, Craniosynostosis OMIM:251230
Dyssegmental Dysplasia, Silverman-Handmaker Type
Cryptorchidism, Pulmonary hypoplasia OMIM:224410
Mosaic Trisomy 16
Abnormality of the gastrointestinal tract, Ventricular septal defect, Abnormal lung morphology, A... ORPHA:1708
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Omphalocele, Hepatomegaly, Atrial septal defect, Ventricular septal defect, Interphalangeal joint... ORPHA:96334
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Obstructive azoospermia, Oligozoospermia ORPHA:48
Smith-Lemli-Opitz Syndrome
Ventricular septal defect, Aganglionic megacolon, Abnormal dental enamel morphology, Congenital d... ORPHA:818
Complete Androgen Insensitivity Syndrome
Male infertility, Testicular neoplasm, Elevated circulating luteinizing hormone level, Bilateral ... ORPHA:99429
Platyspondylic Dysplasia, Torrance Type
Pulmonary hypoplasia, Cleft palate ORPHA:85166
Viss Syndrome
Chronic gastritis, Epidural hemorrhage, High, narrow palate, Generalized joint laxity, Right vent... OMIM:619472
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ventricular septal defect, Pancreatic fibrosis, Pulmonary hypoplasia OMIM:615503
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Ileal atresia, Peritonitis, Bidirectional shunt, Elevated pulmonary artery pressure, Pulmonary hy... OMIM:619351
Tetraamelia Syndrome 1
Congenital diaphragmatic hernia, Asplenia, Peripheral pulmonary vessel aplasia, Cleft palate, Pul... OMIM:273395
Cystinosis, Nephropathic
Male infertility, Hepatomegaly, Oral-pharyngeal dysphagia, Splenomegaly, Rickets, Dysphagia, Hypo... OMIM:219800
Renal Agenesis
Hypertension, Ventricular septal defect, Pulmonary hypoplasia, Anal atresia ORPHA:411709
Restrictive Dermopathy
Osteopenia, Multiple joint contractures, Camptodactyly of finger, Dextrocardia, Aplasia/Hypoplast... ORPHA:1662
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Omphalocele, Congenital hepatic fibrosis, Abnormal pelvis bone ossification, Esophageal atresia, ... ORPHA:93271
Oligomeganephronia
Pulmonary venous occlusion, Congenital diaphragmatic hernia, Secundum atrial septal defect, Hyper... ORPHA:2260
Orofaciodigital Syndrome Type 4
Decreased testicular size, Recurrent respiratory infections, Monorchism, Camptodactyly of finger,... ORPHA:2753
Congenital Myopathy 17
Respiratory tract infection, Cleft palate, Distal arthrogryposis, High palate, Pulmonary hypoplasia OMIM:618975
Blomstrand Lethal Chondrodysplasia
Increased bone mineral density, Synostosis of joints, Pulmonary hypoplasia, Protruding tongue ORPHA:50945
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia OMIM:277180
Renal Tubular Dysgenesis
Pulmonary hypoplasia, Hypotension OMIM:267430
Thanatophoric Dysplasia, Type I
Pulmonary hypoplasia OMIM:187600
Noonan Syndrome 1
Male infertility, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Ventricular... OMIM:163950
Partial Androgen Insensitivity Syndrome
Male infertility, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Prima... ORPHA:90797
Atelosteogenesis Type Ii
Bilateral cleft palate, Elbow flexion contracture, Cleft palate, Pulmonary hypoplasia, Camptodact... ORPHA:56304
Renal Agenesis, Bilateral
Pulmonary hypoplasia, Abnormal intestine morphology, Tracheoesophageal fistula, Cleft palate ORPHA:1848
Achondroplasia
Generalized joint laxity, Limited elbow extension, Limited hip extension, Pulmonary hypoplasia OMIM:100800
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Inguinal hernia, Block vertebrae, Pulmonary hypoplasia, Anal atresia OMIM:271520
Penile Agenesis
Ventricular septal defect, Rectal fistula, Cryptorchidism, Anorectal anomaly, Tracheoesophageal f... ORPHA:49
Fetal Akinesia Deformation Sequence 1
Hip contracture, Elbow contracture, Camptodactyly of finger, Cryptorchidism, High, narrow palate,... OMIM:208150
45,X/46,Xy Mixed Gonadal Dysgenesis
Male infertility, Prolonged QT interval, Tachycardia, Streak ovary, Unilateral cryptorchidism, Bi... ORPHA:1772
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Congenital diaphragmatic hernia, Hamartoma of tongue, Cleft palate, Pulmonary hypoplasia, Atrial ... OMIM:616546
Lethal Congenital Contracture Syndrome 9
Elbow extension contracture, Ankylosis, Flexion contracture, Congenital contracture, Pulmonary hy... OMIM:616503
Mckusick-Kaufman Syndrome
Aganglionic megacolon, Cryptorchidism, Rectovaginal fistula, Pulmonary hypoplasia, Anal atresia OMIM:236700
Genitopatellar Syndrome
Hip contracture, Anal stenosis, Ventricular septal defect, Cryptorchidism, Malrotation of small b... OMIM:606170
Acrorenal-Mandibular Syndrome
Absent nipple, Congenital diaphragmatic hernia, Elbow flexion contracture, Narrow palate, High pa... OMIM:200980
Joubert Syndrome 21
Splenomegaly, Pulmonary hypoplasia, Dysphagia OMIM:615636
Fraser Syndrome 1
Abnormal small intestine morphology, Cryptorchidism, Cleft palate, Abnormal heart morphology, Abn... OMIM:219000
Restrictive Dermopathy 1
Limb joint contracture, Ankylosis, Flexion contracture, Submucous cleft hard palate, Decreased ca... OMIM:275210
Neu-Laxova Syndrome 1
Ventricular septal defect, Cryptorchidism, Yellow subcutaneous tissue covered by thin, scaly skin... OMIM:256520
Fraser Syndrome
Omphalocele, Anal stenosis, Cryptorchidism, Abnormal lung lobation, Ectopic anus, High palate, Pu... ORPHA:2052
Pallister-Killian Syndrome
Congenital diaphragmatic hernia, Flexion contracture, Anteriorly placed anus, Camptodactyly of 2n... OMIM:601803
Microphthalmia, Syndromic 1
Bicuspid aortic valve, Aganglionic megacolon, Cryptorchidism, High, narrow palate, Rectal prolaps... OMIM:309800
Ulbright-Hodes Syndrome
Cryptorchidism, Pneumothorax, Humeroradial synostosis, High palate, Pulmonary hypoplasia ORPHA:3404
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Pulmonary hypoplasia, Persistent cloaca ORPHA:1112
Craniofacial Microsomia 1
Ventricular septal defect, Block vertebrae, Cleft palate, Pulmonary hypoplasia, Tetralogy of Fallot OMIM:164210

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 Hectd3

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 Hectd3.

No publications found that use IMPC mice or data for Hectd3.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Hectd3tm1(NCOM)Cmhd Reporter-tagged deletion allele (with selection cassette) Mice, Targeting vectors, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter