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

Download data as:  TSV  XLS

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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 0.0%
aorta 0.0%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
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.

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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Gross Pathology and Tissue Collection

Images

4 Images

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Adult LacZ

LacZ Images Section

111 Images

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X-ray

XRay Images Skull Lateral Orientation

3 Images

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X-ray

XRay Images Whole Body Dorso Ventral

13 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

3 Images

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Histopathology

Images

1 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 lip, Unilateral cleft palate OMIM:613705
Oligodontia
Short dental root, Microdontia, Eclabion, Agenesis of maxillary lateral incisor, Taurodontia, Age... 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
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Syngnathia
Cleft palate OMIM:119550
Facial Clefting, Oblique, 1
Cleft upper lip, Tessier number 4 facial cleft, Cleft palate OMIM:600251
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Orofacial Cleft 10
Unilateral cleft lip, Unilateral cleft palate OMIM:613705
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Fryns Microphthalmia Syndrome
Tessier cleft, Bilateral cleft palate, Bilateral cleft lip OMIM:600776
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Pyknoachondrogenesis
Stillbirth OMIM:265880
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Non-midline cleft of the upper lip, Cleft palate, Tooth agenesis ORPHA:1074
Orofacial Cleft 1
Cleft upper lip, Cleft palate OMIM:119530
Orofacial Cleft 5
Cleft upper lip, Cleft palate OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft upper lip, Cleft palate OMIM:608864
Congenital Laryngomalacia
Non-midline cleft of the upper lip, Cleft palate ORPHA:2373
Supernumerary Nostril
Tessier cleft ORPHA:141096
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Cleft palate OMIM:106250
Acrofacial Dysostosis, Weyers Type
Tessier cleft, Advanced eruption of teeth, Solitary median maxillary central incisor, Conical too... ORPHA:952
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Tessier cleft, Bilateral cleft palate, Bilateral cleft lip, Cleft upper lip OMIM:601357
Cleft Soft Palate
Cleft soft palate OMIM:119570
Anophthalmia Plus Syndrome
Tessier cleft, Non-midline cleft of the upper lip, Bilateral cleft palate, Cleft palate ORPHA:1104
Frontonasal Dysplasia 3
Tessier cleft, Cleft palate OMIM:613456
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Cerebrooculonasal Syndrome
Tessier cleft, Widely spaced teeth, Solitary median maxillary central incisor, High palate, Micro... ORPHA:66625
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Cleft palate, Death in infancy OMIM:258320
Bifid Uvula
Cleft lip, Bifid uvula, Submucous cleft soft palate ORPHA:99771
Hypertelorism, Microtia, Facial Clefting Syndrome
Tessier cleft, Cleft upper lip, Cleft palate, Narrow mouth OMIM:239800
Cleft Palate, Deafness, And Oligodontia
Agenesis of permanent teeth, Oligodontia of primary teeth, Cleft soft palate OMIM:216300
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Tessier cleft, Cleft upper lip, High, narrow palate, Cleft palate OMIM:607597
Van Der Woude Syndrome 1
Cleft upper lip, Bifid uvula, Cleft palate, Hypodontia, Lower lip pit OMIM:119300
Oculomaxillofacial Dysostosis
Tessier cleft, Cleft palate, Abnormality of the dentition, Median cleft upper lip ORPHA:1794
Orofacial Cleft 13
Oligodontia, Cleft soft palate OMIM:613857
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Cleft palate, Ankyloglossia OMIM:303400
Orofaciodigital Syndrome Type 5
Supernumerary tooth, High, narrow palate, Aganglionic megacolon, Absent cupid's bow, Agenesis of ... ORPHA:2919
Diffuse Gastric And Lobular Breast Cancer Syndrome
Cleft upper lip, Cleft palate, Atrophic gastritis, Stomach cancer OMIM:137215
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Cleft palate, Unilateral cleft lip, Cleft soft palate ORPHA:2736
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Submucous cleft hard palate, Cleft palate ORPHA:2521
Frontofacionasal Dysplasia
Tessier cleft, Non-midline cleft of the upper lip, Cleft palate ORPHA:1791
Coffin-Siris Syndrome 11
Esophageal atresia, Cleft soft palate, High palate, Downturned corners of mouth, Bifid uvula, Wid... OMIM:618779
Acrofacial Dysostosis, Catania Type
Tessier cleft, Abnormal palate morphology, Abnormality of the dentition, Tooth agenesis, Carious ... ORPHA:1786
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Atrial septal defect, Perimembranous ventricular septal defect, Hypertrophic cardio... OMIM:620135
Cleft Velum
Velopharyngeal insufficiency, Cleft soft palate ORPHA:99772
Cardiomyopathy, Familial Hypertrophic, 27
Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:618052
Van Der Woude Syndrome 2
Cleft upper lip, Cleft palate, Anodontia, Hypodontia, Dental malocclusion, Lip pit OMIM:606713
Unilateral Ocular Duplication
Midline facial cleft, Cleft palate, Median cleft upper lip ORPHA:3374
Bencze Syndrome
Submucous cleft hard palate, Open bite ORPHA:1241
Cleft Lip/Palate
Orofacial cleft, Abnormal number of permanent teeth, Palate fistula, Bilateral cleft palate, Peg-... ORPHA:199306
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence OMIM:192445
Van Der Woude Syndrome
Abnormal salivary gland morphology, Cleft upper lip, Cleft palate, Hypodontia, Lower lip pit, Lip... ORPHA:888
Trochlea Of The Humerus, Aplasia Of
Cleft palate OMIM:191000
Oculocerebrocutaneous Syndrome
Tessier cleft, Orofacial cleft, Wide mouth ORPHA:1647
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Orofaciodigital Syndrome Xix
Narrow palate, Cleft soft palate, Midline notching of lower lip, High palate, Narrow mouth, Micro... OMIM:620107
Familial Spontaneous Pneumothorax
Pneumothorax, Abnormal pleura morphology ORPHA:2903
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft upper lip, Cleft palate OMIM:179400
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Constricting Bands, Congenital
Tessier cleft, Cleft upper lip, Cleft palate OMIM:217100
Treacher-Collins Syndrome
Tessier cleft, Rectovaginal fistula, Abnormal dental enamel morphology, Open bite, Glossoptosis, ... ORPHA:861
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Hypertrophic cardiomyopathy OMIM:614096
3Mc Syndrome 3
Tessier cleft, Cleft upper lip, Cleft palate OMIM:248340
Isolated Childhood Apraxia Of Speech
High, narrow palate, Submucous cleft hard palate ORPHA:209908
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Familial Atrial Myxoma
Cardiomegaly, Bacterial endocarditis, Pulmonic valve myxoma, Cardiac myxoma ORPHA:615
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Non-midline cleft of the upper lip, Cleft palate, Lip pit ORPHA:1072
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Tessier cleft, Abnormal palate morphology, Hypodontia, Lip pit ORPHA:1236
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal ventriculoarterial connection, Hepatomegaly, Ventricular septal defect, Anomalous pulmon... ORPHA:860
Mosaic Trisomy 9
Tessier cleft, Intestinal malrotation, Cleft palate, High palate ORPHA:99776
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Esophageal stenosis, Neonatal death, Oral mucosal blisters, Congenital pyloric atresia OMIM:619817
Birk-Barel Syndrome
Short philtrum, High palate, Bifid uvula, Submucous cleft soft palate, Tented upper lip vermilion OMIM:612292
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly OMIM:600649
Robinow Syndrome, Autosomal Dominant 2
Cleft soft palate, Triangular mouth, Dental crowding, Oligodontia, Gingival overgrowth, Abnormali... OMIM:616331
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... ORPHA:555874
Brachycephaly, Trichomegaly, And Developmental Delay
Supernumerary tooth, Thin vermilion border, Thick lower lip vermilion, High palate, Bifid uvula, ... OMIM:617412
Chromosome 17Q12 Duplication Syndrome
Smooth philtrum, Esophageal atresia, Cleft soft palate OMIM:614526
Robinow Syndrome, Autosomal Recessive 2
Triangular mouth, Cleft soft palate, Gingival overgrowth, Abnormality of the dentition, Long phil... OMIM:618529
Fixed Subaortic Stenosis
Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ... ORPHA:3092
Mycophenolate Mofetil Embryopathy
Tessier cleft, Orofacial cleft, Tracheoesophageal fistula ORPHA:268249
Neurooculocardiogenitourinary Syndrome
Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:618652
Mucopolysaccharidosis, Type Ix
Submucous cleft hard palate, Bifid uvula OMIM:601492
Microcephaly 30, Primary, Autosomal Recessive
Pierre-Robin sequence, Thin upper lip vermilion, Cleft soft palate OMIM:620183
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
High, narrow palate, Hypodontia, Submucous cleft hard palate, Glossoptosis ORPHA:3201
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly OMIM:619064
Congenital Toxoplasmosis
Cardiomegaly, Hepatomegaly ORPHA:858
Infantile Sialic Acid Storage Disease
Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:269920
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Submucous cleft hard palate, Bifid uvula OMIM:619239
Aorta Coarctation
Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m... ORPHA:1457
Attrv122I Amyloidosis
Cardiac amyloidosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Aortic valve stenos... ORPHA:85451
Uruguay Faciocardiomusculoskeletal Syndrome
Left atrial enlargement, Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Le... OMIM:300280
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular septal hypertrophy, Muscular ventricular septal defect, Hepatomegaly, Ventricular hyp... OMIM:115197
Oculofaciocardiodental Syndrome
Abnormal palate morphology, Solitary median maxillary central incisor, Tooth malposition, Delayed... ORPHA:2712
Isolated Arrhinia
Tessier cleft ORPHA:1134
Amish Lethal Microcephaly
Cleft soft palate, Death in infancy ORPHA:99742
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy OMIM:614702
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Cardiomegaly, Ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:619051
Mulibrey Nanism
Cardiomegaly, Hepatomegaly, Myocardial fibrosis, Pericardial constriction OMIM:253250
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Endocardial fibroelastosis OMIM:212140
Bartsocas-Papas Syndrome 1
Tessier cleft, Anal stenosis, Oral synechia, Anal atresia, Cleft upper lip, Cleft palate OMIM:263650
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Hydrolethalus
Gingival cleft, Bifid uvula, Cleft palate, Unilateral cleft lip, Submucous cleft hard palate ORPHA:2189
Frontonasal Dysplasia 2
Tessier number 13 facial cleft, Widely spaced teeth, Broad philtrum, Conical tooth OMIM:613451
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Coronary Arterial Fistula
Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st... ORPHA:2041
Mucopolysaccharidosis, Type Iiib
Cardiomegaly, Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy OMIM:252920
Craniosynostosis 2
Supernumerary tooth, Cleft soft palate OMIM:604757
Multiple Epiphyseal Dysplasia, Lowry Type
Cleft hard palate ORPHA:166016
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,... ORPHA:439
Neuraminidase Deficiency
Cardiomegaly, Hepatomegaly, Cardiomyopathy, Splenomegaly OMIM:256550
Buratti-Harel Syndrome
Velopharyngeal insufficiency, Submucous cleft hard palate, Bifid uvula, High palate OMIM:619314
Intellectual Developmental Disorder, Autosomal Dominant 58
Dental crowding, High palate, Protruding tongue, Wide mouth, Thick vermilion border, Submucous cl... OMIM:618106
Timothy Syndrome
Cardiomegaly, Patent foramen ovale, Ventricular septal defect, Tetralogy of Fallot OMIM:601005
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Common at... OMIM:620642
Schilbach-Rott Syndrome
Submucous cleft hard palate, Bifid uvula, Narrow mouth OMIM:164220
Acromelic Frontonasal Dysostosis
Midline facial cleft, Cleft upper lip, Cleft palate, Submucous cleft soft palate, U-Shaped upper ... OMIM:603671
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic valve calcificati... OMIM:231005
Long-Olsen-Distelmaier Syndrome
Cardiomegaly, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect OMIM:620609
Cantu Syndrome
Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle OMIM:239850
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Thin vermilion border, Intestinal malrotation, Velopharyngeal insufficiency, Cleft palate, Enamel... OMIM:614701
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Tessier cleft, Cleft palate ORPHA:306542
Arthrogryposis, Distal, Type 3
Bifid uvula, Submucous cleft hard palate, Cleft palate, High palate OMIM:114300
Hemochromatosis, Type 1
Cardiomegaly, Hepatomegaly, Cardiomyopathy, Splenomegaly OMIM:235200
Vertebral Hypersegmentation And Orofacial Anomalies
Submucous cleft hard palate, Unilateral cleft lip, Unilateral cleft palate OMIM:619122
Cree Mental Retardation Syndrome
Cleft soft palate OMIM:606851
Fraser Syndrome 1
Tessier cleft, Dental crowding, Cleft upper lip, Cleft palate, Abnormality of the anus, Abnormal ... OMIM:219000
Holoprosencephaly 1
Tessier cleft, Median cleft upper lip, Median cleft palate OMIM:236100
Loeys-Dietz Syndrome 5
Cleft soft palate, High palate, Eosinophilic infiltration of the esophagus, Bifid uvula, Cleft pa... OMIM:615582
1Q41Q42 Microdeletion Syndrome
Submucous cleft hard palate, Cleft palate, Thick vermilion border ORPHA:250999
W Syndrome
Broad uvula, Submucous cleft hard palate, Upper lip pit, Agenesis of maxillary central incisor ORPHA:2804
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Abnormal atrioventricular valve morphology, Cardiomegaly, Mitral valve pro... ORPHA:324410
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Widely spaced teeth, Conical tooth, Delayed eruption of teeth, Non-midline cleft of the upper lip... ORPHA:1071
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy OMIM:266500
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Right atrial enlargement OMIM:614473
Orofaciodigital Syndrome Type 10
Long philtrum, Accessory oral frenulum, Cleft soft palate ORPHA:2756
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Thick lower lip vermilion, Unilateral cleft palate, Unilateral cleft lip, Wide mouth, Submucous c... OMIM:619103
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomegaly, Hepatomegaly ORPHA:42
Orofaciodigital Syndrome Type 2
Peg-shaped maxillary lateral incisors, High palate, Talon cusp, Agenesis of central incisor, Abno... ORPHA:2751
Oligodontia
Short dental root, Microdontia, Eclabion, Agenesis of maxillary lateral incisor, Taurodontia, Age... ORPHA:99798
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transposition of the gr... OMIM:306955
Combined Oxidative Phosphorylation Deficiency 33
Cardiomegaly, Hepatomegaly, Cardiomyopathy, Left ventricular hypertrophy OMIM:617713
Double Outlet Left Ventricle
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv... ORPHA:3427
Chromosome 6Q24-Q25 Deletion Syndrome
High, narrow palate, High palate, Smooth philtrum, Long philtrum, Submucous cleft hard palate, An... OMIM:612863
Idiopathic Pulmonary Hemosiderosis
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly ORPHA:99931
Spondylometaphyseal Dysplasia, Schmidt Type
Cleft soft palate ORPHA:93316
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Short philtrum, Smooth philtrum, Cleft soft palate ORPHA:293725
Stickler Syndrome, Type I
Bifid uvula, Submucous cleft hard palate, Cleft palate, Pierre-Robin sequence OMIM:108300
Osteopathia Striata-Cranial Sclerosis Syndrome
High, narrow palate, Delayed eruption of teeth, Bifid uvula, Cleft palate, Submucous cleft hard p... ORPHA:2780
Cerebrocostomandibular Syndrome
Anal stenosis, Cleft soft palate, Short hard palate, Glossoptosis, High palate, Carious teeth, Cl... OMIM:117650
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Oligodontia, Exaggerated cupid's bow, Long upper lip, Everted lower lip vermilion, High palate, E... OMIM:608670
Branchiogenic-Deafness Syndrome
Submucous cleft hard palate OMIM:609166
Hsd10 Disease, Infantile Type
Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:391428
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Cardiomegaly, Hepatomegaly, Hypertrophic cardiomyopathy OMIM:201475
8Q22.1 Microdeletion Syndrome
Long philtrum, Submucous cleft hard palate, Abnormality of the dentition ORPHA:178303
Intellectual Developmental Disorder, Autosomal Dominant 73
Widely spaced teeth, Thick lower lip vermilion, Cleft soft palate, Increased overbite, Short phil... OMIM:620450
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Cardiomegaly, Ventricular septal defect, Hypertrophic cardiomyopathy OMIM:616897
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
High, narrow palate, Widely spaced teeth, Cleft soft palate, Short philtrum, Ankyloglossia, Micro... OMIM:619950
Cirrhotic Cardiomyopathy
Left atrial enlargement, Hepatomegaly, Right atrial enlargement, Left ventricular hypertrophy, Ca... ORPHA:57777
Limb-Mammary Syndrome
Cleft hard palate, Bifid uvula, Cleft palate, Submucous cleft soft palate, Hypodontia, Cleft lip ORPHA:69085
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Cleft hard palate, Delayed eruption of teeth, Dental crowding, Narrow mouth, Bifid uvula, Submuco... OMIM:300990
Marbach-Schaaf Neurodevelopmental Syndrome
Downturned corners of mouth, Submucous cleft hard palate, Thin upper lip vermilion OMIM:619680
Native American Myopathy
High palate, Downturned corners of mouth, Bifid uvula, Cleft palate, Submucous cleft soft palate ORPHA:168572
Double Outlet Right Ventricle
Intestinal malrotation, Submucous cleft hard palate, Cleft palate, Narrow mouth ORPHA:3426
Danon Disease
Myocardial necrosis, Hypertrophic cardiomyopathy, Myocardial fibrosis, Cardiomegaly, Dilated card... OMIM:300257
Complete Atrioventricular Septal Defect
Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul... ORPHA:1329
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart valve morphology, Aortic valve stenosis, Pericardial effusion, Bicus... ORPHA:363705
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Tessier cleft, Esophageal atresia, Ectopic anus, Anal atresia, Cleft upper lip, Long philtrum, Bi... ORPHA:93271
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Hepatomegaly OMIM:255120
Myhre Syndrome
Thin vermilion border, Gingival cleft, Narrow mouth, Bifid uvula, Cleft palate, Unilateral cleft ... ORPHA:2588
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Submucous cleft hard palate, Bifid uvula OMIM:617660
Naxos Disease
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h... OMIM:601214
Treacher Collins Syndrome 1
Cleft soft palate, Narrow mouth, Cleft palate, Wide mouth, Abnormal parotid gland morphology OMIM:154500
Walker-Warburg Syndrome
Bifid uvula, Submucous cleft hard palate, Cleft palate ORPHA:899
Rhizomelic Chondrodysplasia Punctata, Type 2
Submucous cleft hard palate, High palate OMIM:222765
Pseudo-Torch Syndrome 3
Cardiomegaly OMIM:618886
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
High palate, Pyloric stenosis, Long philtrum, Submucous cleft hard palate, Thin upper lip vermilion ORPHA:457279
Interatrial Communication
Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a... ORPHA:1478
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Tooth malposition, Bifid uvula, Failure of eruption of permanent teeth, Cleft palate, Submucous c... ORPHA:2250
Fucosidosis
Cardiomegaly, Hepatomegaly ORPHA:349
Desmosterolosis
Narrow mouth, Intestinal malrotation, Cleft palate, Bifid uvula, Submucous cleft hard palate ORPHA:35107
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Submucous cleft soft palate, Cleft soft palate ORPHA:2282
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Submucous cleft hard palate, Esophageal atresia, Tracheoesophageal fistula, Duodenal atresia OMIM:619227
Velocardiofacial Syndrome
Velopharyngeal insufficiency, Cleft palate, Pierre-Robin sequence, Open mouth, Submucous cleft ha... OMIM:192430
Orofaciodigital Syndrome Type 4
Orofacial cleft, High, narrow palate, Short philtrum, Rectovaginal fistula, Perineal fistula, Ana... ORPHA:2753
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomegaly, Hepatomegaly, Cardiomyopathy, Splenomegaly ORPHA:465508
Sandhoff Disease
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly OMIM:268800
Glycogen Storage Disease Of Heart, Lethal Congenital
Enlarged kidney, Cardiomyopathy, Hypertrophic cardiomyopathy, Pericardial effusion, Cardiomegaly,... OMIM:261740
Sacral Agenesis With Vertebral Anomalies
Neonatal death, Anal atresia, Persistent cloaca OMIM:615709
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Cardiomyopathy OMIM:105210
Mogs-Cdg
Hepatomegaly, Hepatosplenomegaly, Left ventricular hypertrophy, Cardiomegaly, Atrial septal defect ORPHA:79330
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy OMIM:619259
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Cardiomegaly, Partial atrioventricular canal defect, Secundum atrial septal defect, Bicuspid aort... OMIM:620066
Neu-Laxova Syndrome
Abnormality of the philtrum, Everted lower lip vermilion, Bifid uvula, Cleft palate, Thick vermil... ORPHA:2671
Sickle Cell Disease
Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:603903
Cantú Syndrome
Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy ORPHA:1517
Lethal Congenital Contracture Syndrome 10
Cardiomegaly, Overriding aorta, Ventricular septal defect OMIM:617022
Cardiofaciocutaneous Syndrome 1
Dental malocclusion, Open bite, High palate, Abnormality of the dentition, Thick vermilion border... OMIM:115150
Branchioskeletogenital Syndrome
Thin vermilion border, Short philtrum, Rootless teeth, Premature loss of teeth, Abnormal dentin m... ORPHA:1299
Meier-Gorlin Syndrome 5
Long philtrum, Submucous cleft hard palate, Thick vermilion border OMIM:613805
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Dilated cardiomyopathy OMIM:208000
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Cardiomegaly, Hepatomegaly, Hypertrophic cardiomyopathy, Left ventricular hypertrophy ORPHA:308552
Hardikar Syndrome
Gastric varix, Cleft soft palate, Bilateral cleft palate, Esophageal varix, Unilateral cleft pala... OMIM:301068
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy ORPHA:158687
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly, Enlarged kidney OMIM:608836
Congenital Disorder Of Glycosylation, Type It
Cardiomegaly, Dilated cardiomyopathy, Ventricular septal defect, Hepatomegaly OMIM:614921
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Patent foramen ovale, Mitral valve prolapse, Left ventricular hypertrophy,... OMIM:245600
Gaucher Disease, Perinatal Lethal
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Splenomegaly OMIM:608013
Holoprosencephaly 13, X-Linked
Solitary median maxillary central incisor, Median cleft palate, Cleft palate, Submucous cleft har... OMIM:301043
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Pulmonic stenosis, Hepatosplenomegaly, Splenomegaly, Mitral valve prolapse, Cardiom... OMIM:602782
Mullegama-Klein-Martinez Syndrome
Short philtrum, Submucous cleft of soft and hard palate, Bifid uvula, Cleft palate, Smooth philtr... OMIM:301022
Dubowitz Syndrome
Delayed eruption of teeth, High palate, Carious teeth, Velopharyngeal insufficiency, Thick vermil... OMIM:223370
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Right ventricular hypertrophy ORPHA:268
Absence Of The Pulmonary Artery
Patent foramen ovale, Truncus arteriosus, Abnormal heart morphology, Tetralogy of Fallot, Cardiom... ORPHA:980
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cardiomegaly, Hepatomegaly, Cardiomyopathy, Abnormal myocardium morphology ORPHA:228308
Neurodegeneration And Seizures Due To Copper Transport Defect
Cardiomegaly OMIM:620306
Congenital Tracheomalacia
Abnormal heart morphology, Tetralogy of Fallot, Partial anomalous pulmonary venous return, Cardio... ORPHA:95430
Truncus Arteriosus
Transposition of the great arteries, Abnormal heart valve morphology, Truncus arteriosus, Pulmoni... ORPHA:3384
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Intestinal malrotation, Downturned corners of mouth, Smooth philtrum, Cleft soft palate OMIM:619321
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Cleft soft palate OMIM:614557
Ear-Patella-Short Stature Syndrome
High, narrow palate, Narrow mouth, Bifid uvula, Cleft palate, Thick vermilion border, Submucous c... ORPHA:2554
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Atrial septal dilatation, Right atrial enlargement, Right ventricular hypertrophy, ... ORPHA:1677
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Thin lower lip vermilion, Microdontia, Deep philtrum, Wide mouth, Submucous cleft hard palate, Ma... OMIM:619194
Developmental And Epileptic Encephalopathy 95
Cardiomegaly, Hepatomegaly OMIM:618143
Lenz-Majewski Hyperostotic Dwarfism
High, narrow palate, Abnormal dental enamel morphology, Bifid uvula, Cleft palate, Wide mouth, Th... ORPHA:2658
Dubowitz Syndrome
Rectal prolapse, Anal stenosis, Delayed eruption of teeth, High palate, Abnormality of the dentit... ORPHA:235
Intellectual Developmental Disorder, X-Linked, Syndromic 34
High, narrow palate, Widely spaced teeth, Short philtrum, Dental crowding, Narrow mouth, Submucou... OMIM:300967
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Pyloric stenosis, Supernumerary tooth, Widely spaced teeth, Cleft soft palate ORPHA:268261
Cardiofaciocutaneous Syndrome
Long philtrum, Submucous cleft hard palate, High palate ORPHA:1340
Diamond-Blackfan Anemia
Cleft lip, High palate, Cleft soft palate, Adenocarcinoma of the colon ORPHA:124
Glycogen Storage Disease Ii
Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:232300
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly ORPHA:2463
Mucopolysaccharidosis Type 3
Abnormal aortic valve morphology, Hepatomegaly, Abnormal mitral valve morphology, Splenomegaly, A... ORPHA:581
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Cleft soft palate, Delayed eruption of teeth, Dental crowding, Esophageal varix, Narrow mouth, Hi... OMIM:619503
Zttk Syndrome
Thin vermilion border, Intestinal atresia, Short philtrum, High palate, Abnormality of the dentit... OMIM:617140
Fucosidosis
Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:230000
Marden-Walker Syndrome
Narrow mouth, Pyloric stenosis, Bifid uvula, Cleft palate, Submucous cleft hard palate ORPHA:2461
Viss Syndrome
High, narrow palate, Cleft soft palate, Chronic gastritis, High palate, Duodenitis, Intestinal ma... OMIM:619472
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Congenital Total Pulmonary Venous Return Anomaly
Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o... ORPHA:99125
Mucolipidosis Ii Alpha/Beta
Enlarged kidney, Hepatomegaly, Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly OMIM:252500
Holoprosencephaly 2
Solitary median maxillary central incisor, Bilateral cleft palate, Median cleft palate, Bifid uvu... OMIM:157170
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Cardiomegaly, Ventricular hypertrophy, Hepatosplenomegaly, Hepatomegaly OMIM:618278
Tolchin-Le Caignec Syndrome
Narrow mouth, Submucous cleft hard palate, High palate OMIM:618971
Restrictive Dermopathy 1
Stillbirth, Narrow mouth, Neonatal death, Natal tooth, Submucous cleft hard palate OMIM:275210
Paternal Uniparental Disomy Of Chromosome 6
Cardiomegaly, Ventricular septal defect, Hepatomegaly ORPHA:96191
Ogden Syndrome
Left atrial enlargement, Perimembranous ventricular septal defect, Enlarged kidney, Cardiomegaly,... OMIM:300855
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Submucous cleft hard palate OMIM:618891
Campomelic Dysplasia
Narrow mouth, High palate, Irregular dentition, Carious teeth, Cleft palate, Long philtrum, Submu... OMIM:114290
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Microphthalmia, Syndromic 2
Supernumerary tooth, Radiculomegaly, Dental malocclusion, Delayed eruption of teeth, Oligodontia,... OMIM:300166
Histiocytoid Cardiomyopathy
Cardiomegaly, Ventricular septal defect, Hepatomegaly ORPHA:137675
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Cardiomyopathy, Pancreatic hyperplasia, Cardiomegaly OMIM:130650
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Cardiomegaly, Patent foramen ovale OMIM:620371
Bohring-Opitz Syndrome
Cardiomegaly, Abnormal cardiac septum morphology ORPHA:97297
Glycogen Storage Disease Due To Acid Maltase Deficiency
Cardiomegaly, Hepatomegaly, Hypertrophic cardiomyopathy, Left ventricular hypertrophy ORPHA:365
Abetalipoproteinemia
Cardiomegaly, Hepatomegaly ORPHA:14
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Endocardial fibrosis, Right ventricular cardiomyopathy, Hepatomegaly, Re... ORPHA:75565
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Thin vermilion border, Short philtrum, Downturned corners of mouth, Bifid uvula, Cleft palate, Su... ORPHA:500150
Mowat-Wilson Syndrome
Cleft hard palate, Widely spaced teeth, Aganglionic megacolon, Thick lower lip vermilion, Tooth m... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Cleft hard palate, Aganglionic megacolon, Thick lower lip vermilion, Short philtrum, Tooth malpos... ORPHA:261537
Autoinflammatory Disease, Systemic, With Vasculitis
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Splenomegaly OMIM:620376
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Neoplasm of the tongue, Submucous cleft hard palate, Bifid uvula ORPHA:3047
Neuroocular Syndrome
Widely spaced teeth, Short uvula, Increased overbite, Ankyloglossia, Downturned corners of mouth,... OMIM:619539
Aicardi-Goutières Syndrome
Cardiomegaly, Hepatosplenomegaly, Hypertrophic cardiomyopathy ORPHA:51
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Bifid uvula, Submucous cleft hard palate, Cleft palate, Thick vermilion border ORPHA:2636
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Cleft hard palate, Aganglionic megacolon, Thick lower lip vermilion, Short philtrum, Tooth malpos... ORPHA:261552
Wiedemann-Rautenstrauch Syndrome
Short philtrum, Premature loss of teeth, Narrow mouth, Abnormality of the dentition, Downturned c... ORPHA:3455
Chromosome 1P36 Deletion Syndrome, Distal
Orofacial cleft, High palate, Cleft upper lip, Bifid uvula, Abnormality of the anus, Long philtru... OMIM:607872
Liver Disease, Severe Congenital
Left atrial enlargement, Hepatomegaly, Patent foramen ovale, Dilatation of the ventricular cavity... OMIM:619991
Coffin-Siris Syndrome 12
Celiac disease, Submucous cleft hard palate, High palate, Velopharyngeal insufficiency OMIM:619325
Yunis-Varon Syndrome
Cardiomyopathy, Tetralogy of Fallot, Cardiomegaly, Atrial septal defect, Ventricular septal defect ORPHA:3472
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Visceromegaly, Hypertrophic cardiomyopathy, Splenomegaly, Cardiome... ORPHA:116
Williams Syndrome
Abnormal endocardium morphology, Cardiomegaly, Hypertrophic cardiomyopathy, Pulmonic stenosis, Te... ORPHA:904
Mowat-Wilson Syndrome
Aganglionic megacolon, Widely spaced teeth, Tooth malposition, Delayed eruption of teeth, Pyloric... OMIM:235730
Proteasome-Associated Autoinflammatory Syndrome 1
Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:256040
Restrictive Dermopathy
Submucous cleft hard palate, Natal tooth, Narrow mouth, Microcolon ORPHA:1662
Holt-Oram Syndrome
Long philtrum, Cleft soft palate OMIM:142900
Singleton-Merten Syndrome 1
Mitral valve calcification, Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Subv... OMIM:182250
Craniofacial Microsomia 1
Cleft upper lip, Cleft palate, Wide mouth, Transverse facial cleft OMIM:164210
Generalized Arterial Calcification Of Infancy
Cardiomegaly, Pericardial effusion, Ventricular hypertrophy, Myocardial calcification ORPHA:51608

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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