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Gene: Sumo1 MGI:1197010

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Gene Summary

Name:
small ubiquitin-like modifier 1
Synonyms:
SENTRIN,  Ubl1,  Smt3C,  PIC1

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
preweaning lethality, incomplete penetrance Sumo1tm1.1(KOMP)Vlcg HOM   Early adult 0.00
abnormal heart morphology Sumo1tm1.1(KOMP)Vlcg HET Early adult 0.00
enlarged heart Sumo1tm1.1(KOMP)Vlcg HET Early adult 0.00

Download data as:  TSV  XLS

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

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 50% (1 of 2)
Aorta  Section images heterozygote 50% (1 of 2)
Brown adipose tissue  Section images heterozygote 100% (2 of 2)
Cecum  Section images heterozygote 50% (1 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Colon  Section images heterozygote 100% (2 of 2)
Duodenum  Section images heterozygote 50% (1 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Harderian gland  Section images heterozygote 100% (2 of 2)
Ileum  Section images heterozygote 100% (2 of 2)
Jejunum  Section images heterozygote 50% (1 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 50% (1 of 2)
Lung  Section images heterozygote 50% (1 of 2)
Mammary gland  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Penis  Section images heterozygote 50% (1 of 2)
Pituitary gland  Section images heterozygote 100% (2 of 2)
Quadriceps  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Sublingual gland  Section images heterozygote 50% (1 of 2)
Submandibular gland  Section images heterozygote 50% (1 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Tongue  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Trigeminal V nerve  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Vesicular gland  Section images heterozygote 50% (1 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Cartilage tissue N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Diaphragm N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Large intestine N/A heterozygote 100% (2 of 2)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote Not available
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote Not available
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Prostate gland N/A heterozygote Not available
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Thymus N/A heterozygote Not available
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote Not available
Vascular system N/A heterozygote Not available
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood 0.0%
bone marrow 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cecum 5.73% (22 of 384)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
chest bone Unavailable
colon 15.71% (22 of 140)
diaphragm 0.0%
duodenum 3.57% (5 of 140)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.71% (1 of 140)
heart 0.33% (2 of 598)
hindlimb 0.0%
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
ileum 14.29% (20 of 140)
jejunum 8.57% (12 of 140)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.31% (1 of 323)
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
stomach pyloric region 0.0%
striatum 0.5% (3 of 598)
sublingual gland 0.0%
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
tongue 3.57% (5 of 140)
trachea 0.5% (3 of 598)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vagina 0.0%
vas deferens 4.56% (18 of 395)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Adult LacZ

LacZ Images Section

111 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Sumo1 mutations

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

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

The table below shows human diseases associated to Sumo1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
Oligodontia
Delayed eruption of teeth, Microdontia, Taurodontia, Abnormality of primary molar morphology, Sho... ORPHA:99798

The table below shows human diseases predicted to be associated to Sumo1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Ethanolaminosis
Cardiomegaly OMIM:227150
Facial Clefting, Oblique, 1
Cleft palate, Cleft upper lip, Tessier number 4 facial cleft OMIM:600251
Orofacial Cleft 11
Cleft palate, Cleft lip OMIM:600625
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Pyknoachondrogenesis
Stillbirth OMIM:265880
Fryns Microphthalmia Syndrome
Facial cleft, Bilateral cleft lip and palate OMIM:600776
Palatopharyngeal Incompetence
Cleft palate, Velopharyngeal insufficiency OMIM:167500
Acrofacial Dysostosis, Weyers Type
Conical tooth, Facial cleft, Hypodontia, Advanced eruption of teeth, Abnormal oral frenulum morph... ORPHA:952
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Cleft upper lip, Bilateral cleft palate, Facial cleft, Bilateral cleft lip OMIM:601357
Anophthalmia Plus Syndrome
Non-midline cleft lip, Facial cleft, Cleft palate, Bilateral cleft lip and palate ORPHA:1104
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Frontonasal Dysplasia 3
Cleft palate, Facial cleft OMIM:613456
Cerebrooculonasal Syndrome
High palate, Long philtrum, Facial cleft, Widely spaced teeth, Microdontia, Solitary median maxil... ORPHA:66625
Hypertelorism, Microtia, Facial Clefting Syndrome
Cleft palate, Cleft upper lip, Narrow mouth, Facial cleft OMIM:239800
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
Supernumerary Nostril
Facial cleft ORPHA:141096
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Cleft palate, Cleft upper lip, High, narrow palate, Facial cleft OMIM:607597
Orofacial Cleft 1
Cleft palate, Cleft upper lip OMIM:119530
Orofacial Cleft 5
Cleft palate, Cleft upper lip OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft palate, Cleft upper lip OMIM:608864
Oculomaxillofacial Dysostosis
Cleft palate, Abnormality of the dentition, Facial cleft, Median cleft lip ORPHA:1794
Congenital Velopharyngeal Incompetence
Abnormal palate morphology, Velopharyngeal insufficiency ORPHA:2291
Bifid Uvula
Submucous cleft soft palate, Bifid uvula, Cleft lip ORPHA:99771
Uvula, Bifid
Bifid uvula OMIM:192100
Omphalocele-Cleft Palate Syndrome, Lethal
Cleft palate, Bifid uvula, Death in infancy OMIM:258320
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Hypodontia, Bifid uvula, Cleft palate OMIM:119300
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Cleft Soft Palate
Cleft soft palate OMIM:119570
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Orofacial Cleft 13
Oligodontia, Cleft soft palate OMIM:613857
Orofaciodigital Syndrome Type 5
Non-midline cleft lip, Abnormality of the philtrum, Enamel hypoplasia, Bifid tongue, Cleft soft p... ORPHA:2919
Frontofacionasal Dysplasia
Non-midline cleft lip, Facial cleft, Cleft palate ORPHA:1791
Acrofacial Dysostosis, Catania Type
Facial cleft, Abnormal palate morphology, Tooth agenesis, Smooth philtrum, Carious teeth, Abnorma... ORPHA:1786
Cardiomyopathy, Familial Hypertrophic, 27
Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Hypertrophic cardiomyopat... OMIM:618052
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Cleft soft palate, Oligodontia of primary teeth OMIM:216300
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cardiomegaly, Atrial septal defect, Perimembranous ventricular septa... OMIM:620135
Triopia
Cleft palate, Midline facial cleft, Median cleft lip ORPHA:3374
Cleft Palate With Or Without Ankyloglossia, X-Linked
Cleft palate, Ankyloglossia, Bifid uvula OMIM:303400
Oculocerebrocutaneous Syndrome
Facial cleft, Wide mouth, Orofacial cleft ORPHA:1647
Lethal Omphalocele-Cleft Palate Syndrome
Cleft palate, Bifid uvula, Cleft soft palate, Unilateral cleft lip ORPHA:2736
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Cleft palate, Bifid uvula, Submucous cleft hard palate ORPHA:2521
Coffin-Siris Syndrome 11
High palate, Cleft soft palate, Wide mouth, Esophageal atresia, Bifid uvula, Downturned corners o... OMIM:618779
Combined Oxidative Phosphorylation Deficiency 33
Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy OMIM:617713
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Constricting Bands, Congenital
Cleft palate, Cleft upper lip, Facial cleft OMIM:217100
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Ichthyosis, Congenital, Autosomal Recessive 4B
Everted lower lip vermilion, Neonatal death, Death in infancy OMIM:242500
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
3Mc Syndrome 3
Cleft palate, Cleft upper lip, Facial cleft OMIM:248340
Treacher-Collins Syndrome
Cleft upper lip, High palate, Wide mouth, Abnormality of the dentition, Facial cleft, Abnormality... ORPHA:861
Cleft Lip/Palate
Dental malocclusion, Abnormal number of permanent teeth, Unilateral cleft palate, Agenesis of lat... ORPHA:199306
Familial Atrial Myxoma
Cardiomegaly, Cardiac myxoma, Bacterial endocarditis, Pulmonic valve myxoma ORPHA:615
Van Der Woude Syndrome 2
Dental malocclusion, Cleft upper lip, Lip pit, Hypodontia, Anodontia, Cleft palate OMIM:606713
Bencze Syndrome
Submucous cleft hard palate, Open bite ORPHA:1241
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence OMIM:192445
Cleft Velum
Velopharyngeal insufficiency, Cleft soft palate ORPHA:99772
Van Der Woude Syndrome
Cleft upper lip, Lip pit, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... ORPHA:888
Orofaciodigital Syndrome Xix
Lobulated tongue, Narrow palate, Cleft soft palate, High palate, Tongue nodules, Microdontia, Hyp... OMIM:620107
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Hypodontia, Abnormal palate morphology, Lip pit, Facial cleft ORPHA:1236
Congenitally Uncorrected Transposition Of The Great Arteries
Ventricular septal defect, Abnormal mitral valve morphology, Levotransposition of the great arter... ORPHA:860
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Congenital pyloric atresia, Neonatal death, Esophageal stenosis, Oral mucosal blisters OMIM:619817
Mosaic Trisomy 9
Intestinal malrotation, Cleft palate, High palate, Facial cleft ORPHA:99776
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly OMIM:600649
Congenital Tricuspid Valve Dysplasia
Patent foramen ovale, Cardiomegaly, Pericardial effusion, Abnormal tricuspid valve leaflet morpho... ORPHA:555874
Timothy Syndrome
Patent foramen ovale, Cardiomegaly, Tetralogy of Fallot, Ventricular septal defect OMIM:601005
Fixed Subaortic Stenosis
Atrioventricular canal defect, Bacterial endocarditis, Ventricular septal defect, Abnormal cardia... ORPHA:3092
Short Rib-Polydactyly Syndrome
Facial cleft, Intestinal malrotation, Cleft lip, Cleft palate, Orofacial cleft ORPHA:1505
Birk-Barel Syndrome
High palate, Bifid uvula, Short philtrum, Submucous cleft soft palate, Tented upper lip vermilion OMIM:612292
Robinow Syndrome, Autosomal Dominant 2
Dental malocclusion, Cleft soft palate, Long philtrum, Wide mouth, Oligodontia, Dental crowding, ... OMIM:616331
Attrv122I Amyloidosis
Restrictive cardiomyopathy, Left ventricular hypertrophy, Cardiac amyloidosis, Hypertrophic cardi... ORPHA:85451
Mycophenolate Mofetil Embryopathy
Tracheoesophageal fistula, Facial cleft, Orofacial cleft ORPHA:268249
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly OMIM:619064
Congenital Toxoplasmosis
Cardiomegaly, Hepatomegaly ORPHA:858
Brachycephaly, Trichomegaly, And Developmental Delay
High palate, Thick lower lip vermilion, Bifid uvula, Submucous cleft hard palate, Supernumerary t... OMIM:617412
Infantile Sialic Acid Storage Disease
Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:269920
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Cardiomegaly, Ventricular septal defect, Atrial septal defect OMIM:618652
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Ventricular septal hypertrophy,... OMIM:115197
Mulibrey Nanism
Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardial fibrosis OMIM:253250
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614702
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Smooth philtrum, Esophageal atresia OMIM:614526
Acromelic Frontonasal Dysostosis
U-Shaped upper lip vermilion, Cleft palate, Cleft upper lip, Midline facial cleft OMIM:603671
Carnitine Deficiency, Systemic Primary
Endocardial fibroelastosis, Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Cardiomyopathy OMIM:212140
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:619051
Oculofaciocardiodental Syndrome
Tooth malposition, Long philtrum, Delayed eruption of teeth, Oligodontia, Submucous cleft hard pa... ORPHA:2712
Coronary Arterial Fistula
Patent foramen ovale, Cardiomegaly, Bacterial endocarditis, Bicuspid aortic valve, Atrial septal ... ORPHA:2041
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Robinow Syndrome, Autosomal Recessive 2
Long philtrum, Cleft soft palate, Absent uvula, Triangular mouth, Gingival overgrowth, Abnormalit... OMIM:618529
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Hypodontia, Submucous cleft hard palate, Glossoptosis, High, narrow palate ORPHA:3201
Bartsocas-Papas Syndrome 1
Cleft upper lip, Facial cleft, Oral synechia, Anal atresia, Cleft palate, Anal stenosis OMIM:263650
Mucopolysaccharidosis, Type Iiib
Cardiomegaly, Asymmetric septal hypertrophy, Splenomegaly, Hepatomegaly OMIM:252920
Isolated Childhood Apraxia Of Speech
Submucous cleft hard palate, High, narrow palate ORPHA:209908
Microcephaly 30, Primary, Autosomal Recessive
Thin upper lip vermilion, Pierre-Robin sequence, Cleft soft palate OMIM:620183
Mucopolysaccharidosis, Type Ix
Bifid uvula, Submucous cleft hard palate OMIM:601492
Neuraminidase Deficiency
Cardiomegaly, Splenomegaly, Hepatomegaly, Cardiomyopathy OMIM:256550
Aorta Coarctation
Aortic valve atresia, Perimembranous ventricular septal defect, Bicuspid aortic valve, Abnormal l... ORPHA:1457
Frontonasal Dysplasia 2
Conical tooth, Tessier number 13 facial cleft, Broad philtrum, Widely spaced teeth OMIM:613451
Isolated Arrhinia
Facial cleft ORPHA:1134
Isolated Right Ventricular Hypoplasia
Patent foramen ovale, Atrial septal defect, Muscular ventricular septal defect, Cardiomegaly, Rig... ORPHA:439
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Bifid uvula, Submucous cleft hard palate OMIM:619239
Amish Lethal Microcephaly
Cleft soft palate, Death in infancy ORPHA:99742
Gaucher Disease, Type Iiic
Splenomegaly, Mitral stenosis, Hepatomegaly, Cardiomegaly, Aortic valve calcification, Mitral val... OMIM:231005
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Cantu Syndrome
Pericardial effusion, Cardiomegaly, Congenital hypertrophy of left ventricle, Bicuspid aortic valve OMIM:239850
Hemochromatosis, Type 1
Cardiomegaly, Splenomegaly, Hepatomegaly, Cardiomyopathy OMIM:235200
Hydrolethalus
Gingival cleft, Bifid uvula, Submucous cleft hard palate, Cleft palate, Unilateral cleft lip ORPHA:2189
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cleft palate, Facial cleft ORPHA:306542
Fraser Syndrome 1
Difficulty in tongue movements, Cleft upper lip, Abnormal small intestine morphology, Dental malo... OMIM:219000
Multiple Epiphyseal Dysplasia, Lowry Type
Cleft hard palate ORPHA:166016
Buratti-Harel Syndrome
High palate, Velopharyngeal insufficiency, Bifid uvula, Submucous cleft hard palate OMIM:619314
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve pro... ORPHA:324410
Intellectual Developmental Disorder, Autosomal Dominant 58
High palate, Wide mouth, Submucous cleft hard palate, Protruding tongue, Dental crowding, Thick v... OMIM:618106
Craniosynostosis 2
Supernumerary tooth, Cleft soft palate OMIM:604757
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Long philtrum, Velopharyngeal insufficiency, Submucous cleft hard palate, Intestinal malrotation,... OMIM:614701
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy OMIM:266500
Loeys-Dietz Syndrome 5
High palate, Cleft soft palate, Eosinophilic infiltration of the esophagus, Bifid uvula, Tented u... OMIM:615582
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Conical tooth, Non-midline cleft lip, Delayed eruption of teeth, Widely spaced teeth, Hypodontia,... ORPHA:1071
Schilbach-Rott Syndrome
Bifid uvula, Submucous cleft hard palate, Narrow mouth OMIM:164220
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Hepatomegaly OMIM:255120
Arthrogryposis, Distal, Type 3
High palate, Cleft palate, Bifid uvula, Submucous cleft hard palate OMIM:114300
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Right atrial enlargement OMIM:614473
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomegaly, Hepatomegaly ORPHA:42
Heterotaxy, Visceral, 1, X-Linked
Subvalvular aortic stenosis, Atrioventricular canal defect, Hepatomegaly, Right atrial isomerism,... OMIM:306955
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Cardiomyopathy OMIM:105210
Idiopathic Pulmonary Hemosiderosis
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly ORPHA:99931
W Syndrome
Submucous cleft hard palate, Broad uvula, Agenesis of maxillary central incisor, Upper lip pit ORPHA:2804
1Q41Q42 Microdeletion Syndrome
Cleft palate, Submucous cleft hard palate, Thick vermilion border ORPHA:250999
Chromosome 6Q24-Q25 Deletion Syndrome
High palate, Long philtrum, Submucous cleft hard palate, Thin upper lip vermilion, Anteriorly pla... OMIM:612863
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hypertrophic cardiomyopathy, Cardiomegaly, Hepatomegaly OMIM:201475
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
High palate, Pierre-Robin sequence, Long philtrum, Exaggerated median tongue furrow, Oligodontia,... OMIM:608670
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Wide mouth, Thick lower lip vermilion, Submucous cleft hard palate, Unilateral cleft palate, Unil... OMIM:619103
Cree Mental Retardation Syndrome
Cleft soft palate OMIM:606851
Cerebrocostomandibular Syndrome
Pierre-Robin sequence, Cleft soft palate, High palate, Long philtrum, Anteriorly placed anus, Sho... OMIM:117650
Vertebral Hypersegmentation And Orofacial Anomalies
Submucous cleft hard palate, Unilateral cleft palate, Unilateral cleft lip OMIM:619122
Orofaciodigital Syndrome Type 10
Long philtrum, Cleft soft palate, Accessory oral frenulum ORPHA:2756
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Cardiomegaly, Ventricular septal defect OMIM:616897
Orofaciodigital Syndrome Type 2
Talon cusp, Bifid tongue, High palate, Natal tooth, Tongue nodules, Unilateral alveolar cleft of ... ORPHA:2751
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Complete Atrioventricular Septal Defect
Primum atrial septal defect, Displacement of the papillary muscles, Complete atrioventricular can... ORPHA:1329
Craniofaciofrontodigital Syndrome
Ventricular septal defect, Pericardial effusion, Bicuspid aortic valve, Atrial septal defect, Aor... ORPHA:363705
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Bifid uvula, Submucous cleft hard palate, Cleft palate, High, narrow p... ORPHA:2780
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Cleft soft palate, Wide mouth, Widely spaced teeth, Deep philtrum, Microdontia, Ankyloglossia, Sh... OMIM:619950
Stickler Syndrome, Type I
Pierre-Robin sequence, Cleft palate, Bifid uvula, Submucous cleft hard palate OMIM:108300
Danon Disease
Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic cardiomyopathy, Myocardial necrosis, Ca... OMIM:300257
Cirrhotic Cardiomyopathy
Left ventricular hypertrophy, Left atrial enlargement, Hepatomegaly, Cardiomegaly, Right atrial e... ORPHA:57777
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Oligodontia
Delayed eruption of teeth, Microdontia, Taurodontia, Abnormality of primary molar morphology, Sho... ORPHA:99798
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Short philtrum, Cleft soft palate, Smooth philtrum ORPHA:293725
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Cleft upper lip, Bifid tongue, Long philtrum, Ectopic anus, Esophageal atresia, Facial cleft, Ana... ORPHA:93271
Spondylometaphyseal Dysplasia, Schmidt Type
Cleft soft palate ORPHA:93316
Limb-Mammary Syndrome
Hypodontia, Bifid uvula, Submucous cleft soft palate, Cleft lip, Cleft hard palate, Cleft palate ORPHA:69085
8Q22.1 Microdeletion Syndrome
Submucous cleft hard palate, Long philtrum, Abnormality of the dentition ORPHA:178303
Native American Myopathy
High palate, Bifid uvula, Submucous cleft soft palate, Downturned corners of mouth, Cleft palate ORPHA:168572
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Bifid uvula, Submucous cleft hard palate, Thin upper lip vermilion, Na... OMIM:300990
Pseudo-Torch Syndrome 3
Cardiomegaly OMIM:618886
Naxos Disease
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Dilated ca... OMIM:601214
Holoprosencephaly 1
Facial cleft, Median cleft lip and palate OMIM:236100
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly ORPHA:255249
Symptomatic Form Of Hemochromatosis Type 1
Cardiomegaly, Splenomegaly, Hepatomegaly, Cardiomyopathy ORPHA:465508
Branchiogenic-Deafness Syndrome
Submucous cleft hard palate OMIM:609166
Double Outlet Right Ventricle
Intestinal malrotation, Cleft palate, Narrow mouth, Submucous cleft hard palate ORPHA:3426
Marbach-Schaaf Neurodevelopmental Syndrome
Thin upper lip vermilion, Downturned corners of mouth, Submucous cleft hard palate OMIM:619680
Fucosidosis
Cardiomegaly, Hepatomegaly ORPHA:349
Rhizomelic Chondrodysplasia Punctata, Type 2
High palate, Submucous cleft hard palate OMIM:222765
Myhre Syndrome
Gingival cleft, Abnormal lip morphology, Bifid uvula, Submucous cleft hard palate, Narrow mouth, ... ORPHA:2588
Mogs-Cdg
Left ventricular hypertrophy, Atrial septal defect, Hepatosplenomegaly, Hepatomegaly, Cardiomegaly ORPHA:79330
Sandhoff Disease
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly OMIM:268800
Glycogen Storage Disease Of Heart, Lethal Congenital
Pericardial effusion, Enlarged kidney, Hypertrophic cardiomyopathy, Biventricular hypertrophy, In... OMIM:261740
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy OMIM:619259
Sickle Cell Disease
Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:603903
Walker-Warburg Syndrome
Cleft palate, Bifid uvula, Submucous cleft hard palate ORPHA:899
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Partial atrioventricular canal defect, Ventricular septal defect, Bicuspid aortic valve, Secundum... OMIM:620066
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
High palate, Long philtrum, Pyloric stenosis, Submucous cleft hard palate, Thin upper lip vermilion ORPHA:457279
Treacher Collins Syndrome 1
Cleft soft palate, Wide mouth, Abnormal parotid gland morphology, Narrow mouth, Cleft palate OMIM:154500
Lethal Congenital Contracture Syndrome 10
Cardiomegaly, Overriding aorta, Ventricular septal defect OMIM:617022
Desmosterolosis
Bifid uvula, Submucous cleft hard palate, Intestinal malrotation, Narrow mouth, Cleft palate ORPHA:35107
Cantú Syndrome
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology ORPHA:1517
Orofaciodigital Syndrome Type 4
Rectovaginal fistula, Bifid uvula, Submucous cleft hard palate, Abnormal oral frenulum morphology... ORPHA:2753
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Dilated cardiomyopathy OMIM:208000
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly ORPHA:308552
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Bifid uvula, Submucous cleft hard palate OMIM:617660
Cardiofaciocutaneous Syndrome 1
Dental malocclusion, High palate, Deep philtrum, Submucous cleft hard palate, Open mouth, Abnorma... OMIM:115150
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly OMIM:608836
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Bifid uvula, Submucous cleft hard palate, Failure of eruption of permanent teeth, Cleft palate, T... ORPHA:2250
Gaucher Disease, Perinatal Lethal
Cardiomegaly, Splenomegaly, Hepatomegaly, Hepatosplenomegaly OMIM:608013
Dysmorphism-Short Stature-Deafness-Disorder Of Sex Development Syndrome
Submucous cleft soft palate, Cleft soft palate ORPHA:2282
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Tracheoesophageal fistula, Duodenal atresia, Submucous cleft hard palate, Esophageal atresia OMIM:619227
Neu-Laxova Syndrome
Abnormality of the philtrum, Bifid uvula, Submucous cleft hard palate, Everted lower lip vermilio... ORPHA:2671
Velocardiofacial Syndrome
Pierre-Robin sequence, Velopharyngeal insufficiency, Submucous cleft hard palate, Cleft palate, O... OMIM:192430
Branchioskeletogenital Syndrome
Bifid uvula, Submucous cleft hard palate, Short philtrum, Anteriorly placed anus, Downturned corn... ORPHA:1299
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy ORPHA:158687
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Patent foramen ovale, Bicuspid aortic valve, Mitral valve prolapse, Left ventricular hypertrophy,... OMIM:245600
Congenital Disorder Of Glycosylation, Type It
Cardiomegaly, Ventricular septal defect, Hepatomegaly, Dilated cardiomyopathy OMIM:614921
Histiocytosis-Lymphadenopathy Plus Syndrome
Ventricular septal defect, Pulmonic stenosis, Mitral valve prolapse, Atrial septal defect, Hepato... OMIM:602782
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Right ventricular hypertrophy ORPHA:268
Fucosidosis
Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:230000
Meier-Gorlin Syndrome 5
Submucous cleft hard palate, Long philtrum, Thick vermilion border OMIM:613805
Truncus Arteriosus
Truncus arteriosus, Ventricular septal defect, Transposition of the great arteries, Pulmonic sten... ORPHA:3384
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cardiomegaly, Abnormal myocardium morphology, Hepatomegaly, Cardiomyopathy ORPHA:228308
Absence Of The Pulmonary Artery
Patent foramen ovale, Truncus arteriosus, Abnormal cardiac septum morphology, Atrial septal defec... ORPHA:980
Congenital Tracheomalacia
Ventricular septal defect, Single ventricle, Atrial septal defect, Abnormal heart morphology, Par... ORPHA:95430
Hardikar Syndrome
Cleft soft palate, Intestinal malrotation, Celiac disease, Gastric varix, Esophageal varix, Unila... OMIM:301068
Familial Idiopathic Dilatation Of The Right Atrium
Atrial septal dilatation, Hepatomegaly, Cardiomegaly, Right atrial enlargement, Right ventricular... ORPHA:1677
Dubowitz Syndrome
High palate, Delayed eruption of teeth, Velopharyngeal insufficiency, Submucous cleft hard palate... OMIM:223370
Holoprosencephaly 13, X-Linked
Submucous cleft hard palate, Median cleft lip, Solitary median maxillary central incisor, Cleft p... OMIM:301043
Developmental And Epileptic Encephalopathy 95
Cardiomegaly, Hepatomegaly OMIM:618143
Glycogen Storage Disease Ii
Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:232300
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Wide mouth, Widely spaced teeth, Short philtrum, Submucous cleft soft palate, Narrow mouth, Denta... OMIM:300967
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Cleft soft palate OMIM:614557
Dubowitz Syndrome
High palate, Wide mouth, Delayed eruption of teeth, Malabsorption, Submucous cleft hard palate, R... ORPHA:235
Ear-Patella-Short Stature Syndrome
Bifid uvula, Submucous cleft hard palate, Narrow mouth, Cleft palate, High, narrow palate, Thick ... ORPHA:2554
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly ORPHA:2463
Lenz-Majewski Hyperostotic Dwarfism
Wide mouth, Bifid uvula, Submucous cleft hard palate, Abnormal dental enamel morphology, Cleft pa... ORPHA:2658
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Intestinal malrotation, Downturned corners of mouth, Cleft soft palate, Smooth philtrum OMIM:619321
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Pyloric stenosis, Supernumerary tooth, Cleft soft palate, Widely spaced teeth ORPHA:268261
Mucopolysaccharidosis Type 3
Abnormal mitral valve morphology, Abnormal aortic valve morphology, Hepatomegaly, Cardiomegaly, S... ORPHA:581
Cardiofaciocutaneous Syndrome
High palate, Submucous cleft hard palate, Long philtrum ORPHA:1340
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Wide mouth, Deep philtrum, Microdontia, Submucous cleft hard palate, Macroglossia, Thin upper lip... OMIM:619194
Blackfan-Diamond Anemia
Adenocarcinoma of the colon, High palate, Cleft soft palate, Cleft lip ORPHA:124
Congenital Total Pulmonary Venous Return Anomaly
Double outlet right ventricle, Mitral atresia, Ventricular septal defect, Cardiac total anomalous... ORPHA:99125
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Enamel hypoplasia, High palate, Cleft soft palate, Wide mouth, Deep philtrum, Delayed eruption of... OMIM:619503
Zttk Syndrome
High palate, Bifid uvula, Submucous cleft hard palate, Short philtrum, Downturned corners of mout... OMIM:617140
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Cardiomegaly, Hepatomegaly, Hepatosplenomegaly OMIM:618278
Mucolipidosis Ii Alpha/Beta
Enlarged kidney, Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:252500
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Viss Syndrome
High palate, Cleft soft palate, Bifid tongue, Bifid uvula, Macroglossia, Intestinal malrotation, ... OMIM:619472
Marden-Walker Syndrome
Pyloric stenosis, Bifid uvula, Submucous cleft hard palate, Narrow mouth, Cleft palate ORPHA:2461
Paternal Uniparental Disomy Of Chromosome 6
Cardiomegaly, Ventricular septal defect, Hepatomegaly ORPHA:96191
Ogden Syndrome
Patent foramen ovale, Ventricular septal defect, Perimembranous ventricular septal defect, Bicusp... OMIM:300855
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Cardiomegaly, Bicuspid aortic valve ORPHA:91387
Histiocytoid Cardiomyopathy
Cardiomegaly, Ventricular septal defect, Hepatomegaly ORPHA:137675
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly ORPHA:365
Beckwith-Wiedemann Syndrome
Pancreatic hyperplasia, Enlarged kidney, Hepatomegaly, Cardiomegaly, Cardiomyopathy OMIM:130650
Bohring-Opitz Syndrome
Cardiomegaly, Abnormal cardiac septum morphology ORPHA:97297
Abetalipoproteinemia
Cardiomegaly, Hepatomegaly ORPHA:14
Tropical Endomyocardial Fibrosis
Restrictive cardiomyopathy, Coronary artery stenosis, Right ventricular cardiomyopathy, Endocardi... ORPHA:75565
Tolchin-Le Caignec Syndrome
High palate, Narrow mouth, Submucous cleft hard palate OMIM:618971
Campomelic Dysplasia
Irregular dentition, High palate, Long philtrum, Submucous cleft hard palate, Narrow mouth, Cario... OMIM:114290
Restrictive Dermopathy 1
Natal tooth, Submucous cleft hard palate, Narrow mouth, Stillbirth, Neonatal death OMIM:275210
Microphthalmia, Syndromic 2
Dental malocclusion, Long philtrum, Delayed eruption of teeth, Oligodontia, Bifid uvula, Submucou... OMIM:300166
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Bifid uvula, Short philtrum, Submucous cleft soft palate, Downturned corners of mouth, Thin vermi... ORPHA:500150
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Submucous cleft hard palate OMIM:618891
Aicardi-Goutières Syndrome
Hypertrophic cardiomyopathy, Cardiomegaly, Hepatosplenomegaly ORPHA:51
Mowat-Wilson Syndrome
Enterocolitis, Widely spaced teeth, Thick lower lip vermilion, Aganglionic megacolon, Pyloric ste... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Delayed eruption of teeth, Thick lower lip vermilion, Aganglionic megacolon, Pyloric stenosis, Bi... ORPHA:261537
Wiedemann-Rautenstrauch Syndrome
Natal tooth, Hypodontia, Short philtrum, Submucous cleft soft palate, Thin upper lip vermilion, D... ORPHA:3455
Holoprosencephaly 2
Bifid uvula, Submucous cleft hard palate, Median cleft lip and palate, Solitary median maxillary ... OMIM:157170
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Delayed eruption of teeth, Thick lower lip vermilion, Aganglionic megacolon, Pyloric stenosis, Bi... ORPHA:261552
Liver Disease, Severe Congenital
Subvalvular aortic stenosis, Patent foramen ovale, Dilatation of the ventricular cavity, Ventricu... OMIM:619991
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Cleft palate, Bifid uvula, Submucous cleft hard palate, Thick vermilion border ORPHA:2636
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hypertrophic cardiomyopathy, Visceromegaly, Hepatomegaly, Cardiomegaly, Splenome... ORPHA:116
Yunis-Varon Syndrome
Ventricular septal defect, Atrial septal defect, Cardiomegaly, Tetralogy of Fallot, Cardiomyopathy ORPHA:3472
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Neoplasm of the tongue, Bifid uvula, Submucous cleft hard palate ORPHA:3047
Chromosome 1P36 Deletion Syndrome, Distal
Cleft upper lip, High palate, Long philtrum, Abnormality of the anus, Bifid uvula, Submucous clef... OMIM:607872
Neuroocular Syndrome
Widely spaced teeth, Ankyloglossia, Submucous cleft hard palate, Torus palatinus, Downturned corn... OMIM:619539
Williams Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology, Bicuspid aortic valve, Mitral valv... ORPHA:904
Coffin-Siris Syndrome 12
Celiac disease, Velopharyngeal insufficiency, Submucous cleft hard palate, High palate OMIM:619325
Proteasome-Associated Autoinflammatory Syndrome 1
Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:256040
Mowat-Wilson Syndrome
Widely spaced teeth, Delayed eruption of teeth, Aganglionic megacolon, Pyloric stenosis, Submucou... OMIM:235730
Restrictive Dermopathy
Microcolon, Narrow mouth, Submucous cleft hard palate, Natal tooth ORPHA:1662
Singleton-Merten Syndrome 1
Subvalvular aortic stenosis, Aortic valve stenosis, Cardiomegaly, Aortic valve calcification, Mit... OMIM:182250
Generalized Arterial Calcification Of Infancy
Pericardial effusion, Ventricular hypertrophy, Myocardial calcification, Cardiomegaly ORPHA:51608
Craniofacial Microsomia
Transverse facial cleft, Cleft palate, Cleft upper lip, Wide mouth 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 Sumo1

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 Sumo1.

No publications found that use IMPC mice or data for Sumo1.

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MGI Allele Allele Type Produced
Sumo1tm114751(L1L2_Pgk_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Sumo1tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue
Sumo1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Sumo1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Sumo1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells

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