Gene Summary

Name:
tripartite motif-containing 71
Synonyms:
lin-41,  2610206G21Rik,  LOC382112,  Lin41,  mlin-41,  636931,  mLin41

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal ileum morphology Trim71tm1.1(KOMP)Vlcg HET Early adult 0.00
abnormal jejunum morphology Trim71tm1.1(KOMP)Vlcg HET Early adult 0.00
preweaning lethality, complete penetrance Trim71tm1.1(KOMP)Vlcg HOM   Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
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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 N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 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 0.0% (0 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote 50% (1 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye 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)
Harderian gland 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
Ileum N/A heterozygote 50% (1 of 2)
Jejunum N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
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)
Penis N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 50% (1 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote 0.0% (0 of 2)
Vas deferens N/A heterozygote 50% (1 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
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

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Adult LacZ

LacZ Images Section

5 Images

Human diseases caused by Trim71 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 Trim71 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hydrocephalus, Congenital, 4
Ventriculomegaly, Communicating hydrocephalus OMIM:618667

The table below shows human diseases predicted to be associated to Trim71 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Epilepsy With Bilateral Occipital Calcifications
Celiac disease OMIM:226810
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Jejunal Atresia
Jejunal atresia OMIM:243600
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Autoinflammatory Disease, Familial, Behcet-Like 3
Ileitis OMIM:618287
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Anophthalmia Plus Syndrome
Tessier cleft, Choanal atresia, Bilateral cleft palate, Abnormal nasal morphology, Spina bifida, ... ORPHA:1104
Diarrhea 9
Villous atrophy OMIM:618168
Fryns Microphthalmia Syndrome
Tessier cleft, Bilateral cleft lip, Neural tube defect, Bilateral cleft palate OMIM:600776
Duodenal Atresia
Duodenal atresia OMIM:223400
Pancreatic Lipase Deficiency
Steatorrhea, Fat malabsorption OMIM:614338
Frontofacionasal Dysplasia
Tessier cleft, Choanal atresia, Depressed nasal ridge, Bifid nasal tip, Depressed nasal bridge, E... ORPHA:1791
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Esophagitis, Pancolitis, Ileitis, Abnormal intestine morphology, Gast... OMIM:619079
Bile Acid Malabsorption, Primary, 1
Steatorrhea, Increased fecal bile acid, Fat malabsorption OMIM:613291
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Fat malabsorption, Jejunoileal ulceration, Small bowel diverticula OMIM:221400
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Crypt hyperplasia OMIM:613217
Polyrrhinia
Abnormal external nose morphology, Lateral ventricle dilatation, Supernumerary naris, Orofacial c... ORPHA:141091
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Tessier cleft, Choanal atresia, Depressed nasal ridge, Ethmoidal encephalocele, Cleft palate OMIM:607597
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Tessier cleft, Anterior encephalocele, Bilateral cleft palate, Bilateral cleft lip, Holoprosencep... OMIM:601357
Supernumerary Nostril
Tessier cleft, Choanal atresia, Supernumerary naris ORPHA:141096
Annular Pancreas
High intestinal obstruction, Duodenal stenosis ORPHA:675
Pancreas, Annular
High intestinal obstruction, Duodenal stenosis OMIM:167750
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Abnormal intestine morphology, Villous atrophy OMIM:251850
Chronic Intestinal Pseudoobstruction
Intestinal malrotation, Abnormal intestine morphology, Pyloric stenosis ORPHA:2978
Acute Peripheral Arterial Occlusion
Abnormal capillary physiology, Supraventricular tachycardia, Pallor, Abnormality of venous physio... ORPHA:90064
Frontonasal Dysplasia 3
Wide nasal bridge, Cleft palate, Underdeveloped nasal alae, Tessier cleft OMIM:613456
Holoprosencephaly 5
Depressed nasal bridge, Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle ... OMIM:609637
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Lissencephaly 4
Wide nasal bridge, Colpocephaly, Agenesis of corpus callosum OMIM:614019
Oculomaxillofacial Dysostosis
Wide nasal bridge, Tessier cleft, Abnormality of the nose, Underdeveloped nasal alae, Cleft palate ORPHA:1794
Oculocerebrocutaneous Syndrome
Tessier cleft, Ventriculomegaly, Orofacial cleft, Hydrocephalus, Dandy-Walker malformation ORPHA:1647
Hypertelorism, Microtia, Facial Clefting Syndrome
Bifid nose, Broad nasal tip, Cleft palate, Tessier cleft OMIM:239800
Peroxisome Biogenesis Disorder 6A (Zellweger)
Wide nasal bridge, Colpocephaly, Neonatal death OMIM:614870
Diarrhea 7, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Villous atrophy OMIM:615863
Alg13-Cdg
Abnormal lateral ventricle morphology, Anteverted nares ORPHA:324422
Frontonasal Dysplasia 2
Wide nasal bridge, Depressed nasal ridge, Bifid nasal tip, Depressed nasal bridge, Broad columell... OMIM:613451
Facial Clefting, Oblique, 1
Tessier number 4 facial cleft, Cleft palate OMIM:600251
Duodenal Ulcer, Hyperpepsinogenemic I
Duodenal ulcer OMIM:126850
Congenital Hydrocephalus
Ventriculomegaly, Colpocephaly, Hydrocephalus, Bulbous nose ORPHA:2185
Congenital Short Bowel Syndrome
Congenital shortened small intestine, Decreased intestinal transit time, Intestinal malrotation, ... OMIM:615237
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Depressed nasal bridge, Intrauterine growth retardation, Abnormal lateral ventricle morphology, W... ORPHA:488635
Acrofacial Dysostosis, Catania Type
Tessier cleft, Spina bifida occulta, Intrauterine growth retardation, Short nose ORPHA:1786
Mosaic Trisomy 9
Tessier cleft, Ventriculomegaly, Bulbous nose, Intrauterine growth retardation, Spina bifida, Cle... ORPHA:99776
Hb Bart'S Hydrops Fetalis
Pallor, Hydrocephalus, Pericarditis, Congestive heart failure ORPHA:163596
Chronic Diarrhea Due To Glucoamylase Deficiency
Abnormal small intestinal mucosa morphology, Decreased small intestinal mucosa lactase level ORPHA:103907
Intussusception
Intussusception OMIM:147710
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:600348
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Cerebrooculonasal Syndrome
Tessier cleft, Abnormal nostril morphology ORPHA:66625
Glutamine Deficiency, Congenital
Wide nasal bridge, Depressed nasal bridge, Erythema, Lateral ventricle dilatation, Anteverted nar... OMIM:610015
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Mycophenolate Mofetil Embryopathy
Tessier cleft, Agenesis of corpus callosum, Orofacial cleft, Hydrocephalus, Bifid nose ORPHA:268249
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Peripheral Cone Dystrophy
Pallor OMIM:609021
Dermatitis, Atopic
Allergic rhinitis, Dry skin, Facial erythema, Pallor OMIM:603165
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Microvillar PAS-positive secretory granules OMIM:619445
Small Bowel Atresia
Intestinal malrotation, Intestinal hypoplasia, Jejunal atresia ORPHA:1201
Isolated Arrhinia
Tessier cleft, Underdeveloped nasal alae, Midline defect of the nose, Aplasia/Hypoplasia of the n... ORPHA:1134
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Acromelic Frontonasal Dysostosis
Wide nasal bridge, Bifid nasal tip, Ventriculomegaly, Broad nasal tip, Midline defect of the nose... OMIM:603671
Hypercholanemia, Familial 1
Steatorrhea, Fat malabsorption OMIM:607748
Unilateral Ocular Duplication
Midline facial cleft, Encephalocele, Cleft palate ORPHA:3374
Tremor-Nystagmus-Duodenal Ulcer Syndrome
Duodenal ulcer ORPHA:3350
Duodenal Ulcer Due To Antral G-Cell Hyperfunction
Duodenal ulcer OMIM:126840
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Wide nasal bridge, Cranium bifidum occultum, Tessier cleft, Underdeveloped nasal alae, Agenesis o... ORPHA:306542
Joubert Syndrome 15
Exencephaly OMIM:614464
Acrofacial Dysostosis, Weyers Type
Tessier cleft ORPHA:952
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy OMIM:619063
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Vascular Hyalinosis
Protein-losing enteropathy, Hematochezia OMIM:277175
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Depressed nasal bridge, Ventriculomegaly, Lateral ventricle dilatation, Dilated fourth ventricle,... OMIM:613443
Fraser Syndrome 1
Wide nasal bridge, Depressed nasal bridge, Tessier cleft, Underdeveloped nasal alae, Myelomeningo... OMIM:219000
Intellectual Developmental Disorder, X-Linked 103
Anteverted nares, Lateral ventricle dilatation OMIM:300982
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Pallor OMIM:612989
Alpha-Heavy Chain Disease
Abnormal small intestine morphology ORPHA:100025
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intestinal polyposis, Intussusception OMIM:175510
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Evans Syndrome
Epistaxis, Syncope, Pallor, Petechiae ORPHA:1959
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Palpitations, Pallor, Syncope, Tachycardia ORPHA:276556
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Cardiac arrest, Pallor, Congestive heart failure ORPHA:49827
Pancreatic Colipase Deficiency
Steatorrhea, Fat malabsorption ORPHA:309108
Agammaglobulinemia 4, Autosomal Recessive
Protein-losing enteropathy OMIM:613502
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Wide nasal bridge, Broad nasal tip, Lateral ventricle dilatation, Short nose, Cleft palate OMIM:615716
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypertrophic cardiomyopathy, Palpitations, Pallor, Syncope, Tachycardia ORPHA:276575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypertrophic cardiomyopathy, Palpitations, Pallor, Syncope, Tachycardia ORPHA:276580
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hypertrophic cardiomyopathy, Pallor OMIM:613561
Colonic Atresia
Peptic ulcer, Colonic atresia, Duodenal stenosis ORPHA:1198
Constricting Bands, Congenital
Tessier cleft, Encephalocele, Cleft palate OMIM:217100
Secondary Short Bowel Syndrome
Volvulus, Villous atrophy, Abnormal small intestine morphology, Aganglionic megacolon, Small inte... ORPHA:95427
2,4-Dienoyl-Coa Reductase Deficiency
Ventriculomegaly, Colpocephaly, Hydrocephalus, Intrauterine growth retardation OMIM:616034
Optic Atrophy 1
Pallor OMIM:165500
Non-Functioning Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Pallo... ORPHA:94080
Treacher-Collins Syndrome
Wide nasal bridge, Choanal atresia, Tessier cleft, Branchial fistula, Encephalocele, Cleft palate ORPHA:861
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Pallor ORPHA:276608
Breath-Holding Spells
Pallor OMIM:607578
Holoprosencephaly 1
Tessier cleft, Alobar holoprosencephaly, Proboscis, Median cleft palate, Agenesis of corpus callo... OMIM:236100
Spontaneous Periodic Hypothermia
Arrhythmia, Pallor ORPHA:29822
Hyperinsulinism Due To Hnf1A Deficiency
Tachycardia, Syncope, Palpitations, Pallor ORPHA:324575
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Hemoglobin D Disease
Pallor ORPHA:90039
Intellectual Developmental Disorder, Autosomal Dominant 48
Lateral ventricle dilatation, Umbilical hernia, Intrauterine growth retardation, Dilated fourth v... OMIM:617751
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal malrotation, Congenital shortened small intestine, Intestinal pseudo-obstruction, Pylo... OMIM:300048
Martsolf Syndrome 2
Broad nasal tip, Lateral ventricle dilatation OMIM:619420
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Spina bifida occulta, Lateral ventricle dilatation, Dandy-Walker malformation, Agenesis of corpus... OMIM:618736
Bartsocas-Papas Syndrome 1
Tessier cleft, Underdeveloped nasal alae, Dry skin, Intrauterine growth retardation, Short nose, ... OMIM:263650
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Lateral ventricle dilatation, Low ins... OMIM:619995
Congenital Enterocyte Heparan Sulfate Deficiency
Protein-losing enteropathy, Hematochezia ORPHA:103910
Cyclic Vomiting Syndrome
Pallor, Cardiomyopathy OMIM:500007
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,... ORPHA:137675
Martinez-Frias Syndrome
Intestinal malrotation, Jejunal atresia, Tracheoesophageal fistula, Intestinal hypoplasia, Duoden... OMIM:601346
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Depressed nasal bridge, Ventriculomegaly, Intrauterine growth retardation, Colpocephaly, Hydrocep... OMIM:619833
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Chylomicron Retention Disease
Steatorrhea, Accumulation of lipid droplets in small-bowel enterocytes OMIM:246700
Adams-Oliver Syndrome 2
Depressed nasal bridge, Hydrocephalus, Lateral ventricle dilatation, Bulbous nose OMIM:614219
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly, Anteverted nares OMIM:618731
Rheumatic Fever
Epistaxis, Erythema, Pallor, Arrhythmia, Recurrent pharyngitis, Myocarditis, Pericarditis ORPHA:3099
Global Developmental Delay With Or Without Impaired Intellectual Development
Bulbous nose, Lateral ventricle dilatation OMIM:618330
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Depressed nasal bridge, Colpocephaly, Agenesis of corpus callosum OMIM:619955
Fanconi Anemia, Complementation Group I
Intrauterine growth retardation, Colpocephaly, Pallor, Agenesis of corpus callosum OMIM:609053
Alg2-Cdg
Wide nasal bridge, Lateral ventricle dilatation ORPHA:79326
Craniosynostosis 6
Spina bifida occulta, Lateral ventricle dilatation, Dandy-Walker malformation, Agenesis of corpus... OMIM:616602
Thoraco-Abdominal Enteric Duplication
Intestinal malrotation, Duodenal stenosis ORPHA:1759
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Lateral ventricle dilatation, Broad columella, Thick nasal alae, Bulbous nose, Depressed nasal ti... ORPHA:293725
Craniorachischisis
Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly ORPHA:63260
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Ventriculomegaly, Bulbous nose, Agenesis of corpus callosum, Colpocephaly, Hydrocephalus, Communi... OMIM:615219
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Mungan Syndrome
Barrett esophagus, Megaduodenum, Hypoperistalsis, Intestinal pseudo-obstruction OMIM:611376
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Pallor, Congestive heart failure ORPHA:90037
3Mc Syndrome 3
Tessier cleft, Cleft palate OMIM:248340
Leishmaniasis
Rhinitis, Pallor, Skin ulcer ORPHA:507
Chromosome 6Q24-Q25 Deletion Syndrome
Lateral ventricle dilatation, Tricuspid regurgitation, Intrauterine growth retardation, Anteverte... OMIM:612863
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Spina bifida occulta, Ventriculomegaly, Lateral ventricle dilatation, Subdural hemorrhage OMIM:618291
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly ORPHA:401815
Eosinophilic Gastroenteritis
Protein-losing enteropathy, Hematochezia, Abnormality of the gastrointestinal tract, Steatorrhea,... ORPHA:2070
Beta-Thalassemia
Hypertrophic cardiomyopathy, Pallor, Skin ulcer ORPHA:848
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Depressed nasal bridge, Intrauterine growth retardation, Lateral ventricle dilatation ORPHA:284417
American Trypanosomiasis
Cardiomyopathy, Congestive heart failure, Pallor, Arrhythmia, Myocarditis ORPHA:3386
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis OMIM:614328
Congenital Tufting Enteropathy
Abnormal large intestinal mucosa morphology, Villous atrophy, Abnormal small intestinal mucosa mo... ORPHA:92050
Weiss-Kruszka Syndrome
Ventriculomegaly, Anteverted nares, Agenesis of corpus callosum, Colpocephaly, Short nose OMIM:618619
Pontocerebellar Hypoplasia, Type 12
Lateral ventricle dilatation OMIM:618266
Retinitis Pigmentosa 51
Pallor OMIM:613464
Joubert Syndrome 3
Wide nasal bridge, Anteverted nares, Enlarged fossa interpeduncularis, Lateral ventricle dilatation OMIM:608629
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Primary Myelofibrosis
Portal hypertension, Petechiae, Pallor, Ecchymosis, Purpura ORPHA:824
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Depressed nasal bridge, Lateral ventricle dilatation, Bulbous nose, Anteverted nares, Short nose OMIM:614105
Hypotonia, Infantile, With Psychomotor Retardation
Lateral ventricle dilatation OMIM:616816
Idiopathic Pulmonary Hemosiderosis
Heart murmur, Diffuse alveolar hemorrhage, Pallor ORPHA:99931
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Ventriculomegaly, Colpocephaly, Hydrocephalus, Agenesis of corpus callosum OMIM:620156
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Tessier cleft ORPHA:1236
Mitchell-Riley Syndrome
Meckel diverticulum, Anteriorly placed anus, Intestinal malrotation, Jejunal atresia, Acholic sto... OMIM:615710
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation ORPHA:306669
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy OMIM:618154
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Depressed nasal ridge, Pallor OMIM:600462
Dravet Syndrome
Pallor ORPHA:33069
Trigonocephaly 1
High, narrow palate, Meckel diverticulum OMIM:190440
Fumarase Deficiency
Depressed nasal bridge, Ventriculomegaly, Anteverted nares, Pallor, Agenesis of corpus callosum, ... OMIM:606812
Leukoencephalopathy, Progressive, With Ovarian Failure
Lateral ventricle dilatation OMIM:615889
Leukoencephalopathy With Vanishing White Matter 5
Dilated third ventricle, Lateral ventricle dilatation OMIM:620315
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Wide nasal bridge, Depressed nasal ridge, Encephalocele, Exencephaly ORPHA:2211
Alg1-Cdg
Protein-losing enteropathy, Abnormality of the gastrointestinal tract ORPHA:79327
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Depressed nasal bridge, Ventriculomegaly, Dilated third ventricle, Occipital encephalocele, Later... ORPHA:397715
Deafness-Lymphedema-Leukemia Syndrome
Intracranial hemorrhage, Pallor ORPHA:3226
Microvillus Inclusion Disease
Villous atrophy, Abnormal small intestinal villus morphology ORPHA:2290
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation OMIM:619972
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventriculomegaly, Lateral ventricle dilatation, Intrauterine growth retardation, Agenesis of corp... ORPHA:79243
Acquired Idiopathic Sideroblastic Anemia
Pallor, Congestive heart failure ORPHA:75564
Sporadic Pheochromocytoma/Secreting Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Pallo... ORPHA:276621
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor OMIM:615631
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Dilated third ventricle, Lateral ventricle dilatation, Dry skin, Prominent nose, Agenesis of corp... OMIM:619244
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia, Ventriculomegaly, Pallor ORPHA:348
Waldenström Macroglobulinemia
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, Pallor, Retinal hem... ORPHA:33226
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Pallor ORPHA:90036
Severe X-Linked Intellectual Disability, Gustavson Type
Recurrent upper respiratory tract infections, Lateral ventricle dilatation, Dilated fourth ventri... ORPHA:3078
D-2-Hydroxyglutaric Aciduria 1
Aortic regurgitation, Subependymal cysts, Lateral ventricle dilatation, Cardiomyopathy OMIM:600721
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Lateral ventricle dilatation OMIM:617668
Microphthalmia-Brain Atrophy Syndrome
Lateral ventricle dilatation ORPHA:77299
Alg6-Cdg
Protein-losing enteropathy, Macroglossia ORPHA:79320
Pseudo-Torch Syndrome 2
Ventriculomegaly, Lateral ventricle dilatation, Petechiae, Bradycardia, Cerebral hemorrhage OMIM:617397
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hypotension, Pallor, Pulmonary arterial hypertension, Hydrocephalus, Bradycardia, Tachycardia, Ca... OMIM:277400
Halperin-Birk Syndrome
Ventriculomegaly, Semilobar holoprosencephaly, Umbilical hernia, Intrauterine growth retardation,... OMIM:618651
Polymicrogyria Due To Tubb2B Mutation
Lateral ventricle dilatation, Agenesis of corpus callosum ORPHA:300573
Autoimmune Hemolytic Anemia, Warm Type
Tachycardia, Pallor, Congestive heart failure ORPHA:90033
Congenital Disorder Of Glycosylation, Type Ib
Steatorrhea, Protein-losing enteropathy, Villous atrophy OMIM:602579
Abetalipoproteinemia
Fat malabsorption OMIM:200100
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Tessier cleft, Depressed nasal bridge, Ventriculomegaly, Agenesis of corpus callosum, Dandy-Walke... ORPHA:93271
Pontocerebellar Hypoplasia, Type 13
Anteverted nares, Lateral ventricle dilatation, Dandy-Walker malformation OMIM:618606
Malan Overgrowth Syndrome
Depressed nasal bridge, Ventriculomegaly, Lateral ventricle dilatation ORPHA:420179
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Protein-losing enteropathy, Hematochezia, Gastrointestinal carcinoma, Xerostomia, Glossitis, Hama... OMIM:175500
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Bulbous nose, Intrauterine growth retardation, Agenesis of corpus callosum, Colpocephaly, Long no... OMIM:620113
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Partial agenesis of the corpus callosum, Lateral ventricle dilatation OMIM:619517
Mpi-Cdg
Protein-losing enteropathy, Gastrointestinal hemorrhage ORPHA:79319
Dominant Beta-Thalassemia
Depressed nasal bridge, Dilated cardiomyopathy, Skin ulcer, Pallor, High-output congestive heart ... ORPHA:231226
Kcnq2-Related Epileptic Encephalopathy
Facial erythema, Pallor ORPHA:439218
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Wide nasal bridge, Hydranencephaly, Dilated third ventricle, Lateral ventricle dilatation, Tricus... OMIM:620371
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Lateral ventricle dilatation OMIM:618890
Visceral Myopathy 1
Microcolon, Intestinal pseudo-obstruction, Megaduodenum, Thinning of outer muscular layer of smal... OMIM:155310
Pontocerebellar Hypoplasia, Type 1A
Lateral ventricle dilatation OMIM:607596
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor OMIM:611590
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Tachycardia, Pallor ORPHA:263455
Distal Deletion 10Q
Wide nasal bridge, Lateral ventricle dilatation, Prominent nose, Prominent nasal bridge, Spina bi... ORPHA:96148
Noonan Syndrome 14
Aortic regurgitation, Lateral ventricle dilatation, Hypertrophic cardiomyopathy, Dry skin, Promin... OMIM:619745
Hereditary Pheochromocytoma-Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Pallo... ORPHA:29072
Cog5-Cdg
Wide nasal bridge, Lateral ventricle dilatation, Premature skin wrinkling, Intrauterine growth re... ORPHA:263487
Irida Syndrome
Pallor ORPHA:209981
Holoprosencephaly 13, X-Linked
Alobar holoprosencephaly, Semilobar holoprosencephaly, Median cleft palate, Submucous cleft hard ... OMIM:301043
Bainbridge-Ropers Syndrome
Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Lateral ventricle dilatation, Underde... OMIM:615485
Cach Syndrome
Intrauterine growth retardation, Lateral ventricle dilatation ORPHA:135
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Lateral ventricle dilatation ORPHA:363654
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Dilated third ventricle, Lateral ventricle dilatation, Hydrocephalus, Dandy-Wal... OMIM:613154
Sepsis In Premature Infants
Hypotension, Pallor, Petechiae, Bradycardia, Tachycardia, Purpura ORPHA:90051
Cold Agglutinin Disease
Pallor ORPHA:56425
16Q24.3 Microdeletion Syndrome
Ventriculomegaly, Dilated cardiomyopathy, Anteverted nares, Mitral regurgitation, Colpocephaly ORPHA:261250
Bilateral Generalized Polymicrogyria
Lateral ventricle dilatation ORPHA:208447
Beta-Thalassemia Major
Depressed nasal bridge, Dilated cardiomyopathy, Skin ulcer, Pallor, High-output congestive heart ... ORPHA:231214
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lateral ventricle dilatation, Pulmonic stenosis, Umbilical hernia OMIM:618914
Congenital Dyserythropoietic Anemia Type Iii
Pallor, Melena ORPHA:98870
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Lateral ventricle dilatation OMIM:221770
Beta-Thalassemia Intermedia
Skin ulcer, Pulmonary arterial hypertension, Pallor, High-output congestive heart failure ORPHA:231222
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Diamond-Blackfan Anemia 1
Depressed nasal ridge, Congestive heart failure, Intrauterine growth retardation, Pallor, Spina b... OMIM:105650
Hydrocephalus, Congenital, 4
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Refractory Celiac Disease
Protein-losing enteropathy, Villous atrophy, Jejunitis ORPHA:398063
Wars2-Related Combined Oxidative Phosphorylation Defect
Wide nasal bridge, Ventriculomegaly, Lateral ventricle dilatation, Cardiomyopathy, Dilated fourth... ORPHA:572798
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Depressed nasal bridge, Lateral ventricle dilatation OMIM:620075
Spondyloenchondrodysplasia
Vasculitis, Ventriculomegaly, Abnormal lateral ventricle morphology, Raynaud phenomenon, Hyperten... ORPHA:1855
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Ventriculomegaly, Mitral stenosis, Agenesis of corpus callosum, Colpocephaly, Low hanging columella OMIM:617260
Pyruvate Kinase Deficiency Of Red Cells
Intrauterine growth retardation, Pallor OMIM:266200
Congenital Disorder Of Glycosylation, Type Iig
Wide nasal bridge, Lateral ventricle dilatation, Intrauterine growth retardation, Anteverted nare... OMIM:611209
Paganini-Miozzo Syndrome
Lateral ventricle dilatation OMIM:301025
Linear Skin Defects With Multiple Congenital Anomalies 1
Junctional ectopic tachycardia, Histiocytoid cardiomyopathy, Agenesis of corpus callosum, Arrhyth... OMIM:309801
Beta-Ketothiolase Deficiency
Hypotension, Hypertension, Pallor ORPHA:134
Cog8-Cdg
Protein-losing enteropathy ORPHA:95428
Myelofibrosis
Purpura, Pallor OMIM:254450
Retinitis Pigmentosa 75
Pallor OMIM:617023
Developmental And Epileptic Encephalopathy 31B
Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum OMIM:620352
Anemia, Hypochromic Microcytic, With Iron Overload 2
Pallor OMIM:615234
Glutaric Acidemia I
Hydrocephalus, Lateral ventricle dilatation OMIM:231670
Intellectual Developmental Disorder, Autosomal Dominant 56
Lateral ventricle dilatation OMIM:617854
Tay-Sachs Disease
Pallor OMIM:272800
Aicardi-Goutieres Syndrome 9
Lateral ventricle dilatation, Dry skin, Intrauterine growth retardation, Portal hypertension, Hyp... OMIM:619487
3-Hydroxy-3-Methylglutaric Aciduria
Cardiac arrest, Hypotension, Dilated cardiomyopathy, Pallor ORPHA:20
Refractory Anemia With Excess Blasts
Retinal hemorrhage, Anemic pallor, Palpitations ORPHA:86839
Autosomal Recessive Malignant Osteopetrosis
Pulmonary arterial hypertension, Pallor, Hydrocephalus, Chronic rhinitis ORPHA:667
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Serkal Syndrome
Malrotation of small bowel ORPHA:139466
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilated cardiomyopathy, Lateral ventricle dilatation, Histiocytoid cardiomyopathy, Agenesis of co... OMIM:300952
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Pericardial And Diaphragmatic Defect
Intestinal malrotation, Meckel diverticulum, Abnormal gastrointestinal tract morphology ORPHA:2847
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Cardiac arrest, Pallor OMIM:246450
Hereditary Spherocytosis
Restrictive cardiomyopathy, Pallor, Skin ulcer ORPHA:822
Basel-Vanagaite-Smirin-Yosef Syndrome
Dilated third ventricle, Lateral ventricle dilatation, Anteverted nares, Agenesis of corpus callo... ORPHA:464738
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hematochezia, Depressed nasal bridge, Dilated third ventricle, Lateral ventricle dilatation, Hydr... OMIM:619575
Slc35A2-Cdg
Intrauterine growth retardation, Lateral ventricle dilatation, Dandy-Walker malformation ORPHA:356961
Juvenile Polyposis Of Infancy
High, narrow palate, Protein-losing enteropathy, Intestinal bleeding, Gastrointestinal hemorrhage... ORPHA:79076
Systemic Mastocytosis With Associated Hematologic Neoplasm
Tachycardia, Hypotension, Syncope, Pallor ORPHA:98849
Systemic Sclerosis
Barrett esophagus, Intestinal bleeding, Abnormal large intestine morphology, Gastroesophageal ref... ORPHA:90291
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Intrauterine growth retardation, Pallor OMIM:301310
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Pallor, Recurrent upper and lower respiratory tract infections ORPHA:331206
Aicardi Syndrome
Dilated third ventricle, Lateral ventricle dilatation, Anteverted nares, Choroid plexus cyst, Spi... OMIM:304050
Sheehan Syndrome
Dry skin, Palpitations, Pallor, Orthostatic hypotension, Bradycardia ORPHA:91355
Mosaic Trisomy 1
Wide nasal bridge, Depressed nasal bridge, Lateral ventricle dilatation, Agenesis of corpus callo... ORPHA:1692
Combined Oxidative Phosphorylation Defect Type 39
Intrauterine growth retardation, Lateral ventricle dilatation, Bradycardia ORPHA:565624
Degcags Syndrome
Ventriculomegaly, Intrauterine growth retardation, Prominent nose, Anteverted nares, Prominent na... OMIM:619488
Congenital Disorder Of Glycosylation, Type Ih
Protein-losing enteropathy OMIM:608104
Peroxisome Biogenesis Disorder 5A (Zellweger)
Aortic regurgitation, Tricuspid regurgitation, Intrauterine growth retardation, Mitral regurgitat... OMIM:614866
Imerslund-Gräsbeck Syndrome
Tachycardia, Pallor ORPHA:35858
Weaver Syndrome
Depressed nasal bridge, Ventriculomegaly, Lateral ventricle dilatation, Umbilical hernia, Cutis laxa OMIM:277590
Alternating Hemiplegia Of Childhood
Cardiomyopathy, Abnormal T-wave, Pallor, Cardiac conduction abnormality, Arrhythmia ORPHA:2131
Pituitary Apoplexy
Hypotension, Hypertension, Pallor ORPHA:95613
Senior-Loken Syndrome 8
Pallor OMIM:616307
X-Linked Intellectual Disability, Wilson Type
Lateral ventricle dilatation ORPHA:85290
Myopathy, Mitochondrial, And Ataxia
Pallor OMIM:617675
Non-Functioning Pituitary Adenoma
Hypotension, Pallor ORPHA:91349
Adenohypophysitis
Pallor, Orthostatic hypotension ORPHA:95512
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Cat Eye Syndrome
Anal stenosis, Meckel diverticulum, Volvulus, Intestinal malrotation, Rectal fistula, Rectal atre... OMIM:115470
Childhood Absence Epilepsy
Pallor ORPHA:64280
Prader-Willi Syndrome Due To Translocation
Broad nasal tip, Lateral ventricle dilatation, Anteverted nares, Intrauterine growth retardation,... ORPHA:177907
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Ventriculomegaly, Pallor, Hydrocephalus, Short nasal bridge OMIM:253280
Khan-Khan-Katsanis Syndrome
Ventriculomegaly, Tricuspid regurgitation, Intrauterine growth retardation, Colpocephaly, Short nose OMIM:618460
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Submucous cleft hard palate, Lateral ventricle dilatation, Short nose ORPHA:457279
Panhypophysitis
Pallor, Orthostatic hypotension ORPHA:95513
Idiopathic Hypereosinophilic Syndrome
Dilated cardiomyopathy, Pulmonary embolism, Congestive heart failure, Transient ischemic attack, ... ORPHA:3260
Hereditary Folate Malabsorption
Pallor ORPHA:90045
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Partial agenesis of the corpus callosum, Dilated third ventricle, Lateral ventricle dilatation OMIM:617296
Von Hippel-Lindau Disease
Cardiomyopathy, Palpitations, Pallor, Arrhythmia, Myocarditis, Abnormal left ventricular function... ORPHA:892
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Normal pressure hydrocephalus, Partial agenesis of the corpus callosum, Lateral ventricle dilatation ORPHA:300570
Letterer-Siwe Disease
Pallor OMIM:246400
Elliptocytosis 1
Pallor OMIM:611804
Den Hoed-De Boer-Voisin Syndrome
Intrauterine growth retardation, Ventriculomegaly, Lateral ventricle dilatation, Dry skin OMIM:619229
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Bulbous nose, Dilated third ventricle, Lateral ventricle dilatation ORPHA:544488
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation OMIM:619278
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysplastic corpus callosum, Ventriculomegaly, Lateral ventricle dilatation ORPHA:488627
Prolactinoma
Hypotension, Pallor ORPHA:2965
Giant Axonal Neuropathy 1, Autosomal Recessive
Lateral ventricle dilatation OMIM:256850
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Lateral ventricle dilatation, Dry skin, Intrauterine growth retardation, Prominent nose, Antevert... OMIM:210710
Incontinentia Pigmenti
Retinal hemorrhage, Erythema, Pallor OMIM:308300
Esophageal Atresia
Choanal atresia, Pallor, Cleft palate ORPHA:1199
Smith-Lemli-Opitz Syndrome
Wide nasal bridge, Depressed nasal bridge, Hypertrophic cardiomyopathy, Intrauterine growth retar... OMIM:270400
Scedosporiosis
Abnormal jejunum morphology ORPHA:449280
Genitourinary And/Or Brain Malformation Syndrome
Agenesis of corpus callosum, Aplasia of the nasal bone, Dysplastic corpus callosum, Colpocephaly,... OMIM:618820
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Pallor ORPHA:300298
Juvenile Polyposis Syndrome
Rectocele, Gastrointestinal hemorrhage, Protein-losing enteropathy, Hematochezia, Colon cancer, S... ORPHA:2929
Aregenerative Anemia
Pallor ORPHA:101096
Fanconi Anemia, Complementation Group D2
Anemic pallor, Hydrocephalus, Agenesis of corpus callosum OMIM:227646
Scalp-Ear-Nipple Syndrome
Depressed nasal bridge, Lateral ventricle dilatation, Congestive heart failure, Dry skin, Antever... OMIM:181270
Tsh-Secreting Pituitary Adenoma
Hypotension, Congestive heart failure, Palpitations, Pallor, Supraventricular arrhythmia, Ventric... ORPHA:91347
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Lateral ventricle dilatation OMIM:619847
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Pallor OMIM:194380
Oculoskeletodental Syndrome
Protein-losing enteropathy, Macroglossia OMIM:618440
Sacral Defect With Anterior Meningocele
Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Dermal sinus tract OMIM:600145
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor OMIM:300908
Primary Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Increased stool alpha1-antitrypsin concentration, Functional abnorma... ORPHA:90362
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Hematochezia, Anemic pallor ORPHA:329971
Diamond-Blackfan Anemia
Wide nasal bridge, Depressed nasal bridge, Cleft soft palate, Pallor ORPHA:124
Immunodeficiency 31C
Protein-losing enteropathy, Villous atrophy, Gastrointestinal eosinophilia, Intussusception OMIM:614162
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Wide nasal bridge, Depressed nasal bridge, Ventriculomegaly, Lateral ventricle dilatation OMIM:619479
Gabriele-De Vries Syndrome
Intrauterine growth retardation, Broad nasal tip, Lateral ventricle dilatation OMIM:617557
Neuroblastoma
Anemic pallor, Hypertension ORPHA:635
Helsmoortel-Van Der Aa Syndrome
Wide nasal bridge, Ventriculomegaly, Broad nasal tip, Lateral ventricle dilatation, Intrauterine ... OMIM:615873
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Protein-losing enteropathy, High palate, Cleft palate OMIM:235255
Congenital Tracheal Stenosis
Meckel diverticulum, Duodenal stenosis, Abnormal stomach morphology, Abnormal gastrointestinal tr... ORPHA:141127
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Wide nasal bridge, Colpocephaly, Narrow nasal tip, Anteverted nares ORPHA:477993
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Protein-losing enteropathy, Narrow palate, Rectal prolapse, Intestinal lymphangiectasia OMIM:235510
Metachromatic Leukodystrophy
Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal duodenum morphology, Intussusc... ORPHA:512
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Hypertensive crisis, Hypertension, Pallor ORPHA:544482
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Narrow nasal ridge, Colpocephaly OMIM:620083
Multiple Endocrine Neoplasia Type 2
Hypertensive crisis, Palpitations, Pallor, Hypertension associated with pheochromocytoma ORPHA:653
Pearson Marrow-Pancreas Syndrome
Erythema, Pallor OMIM:557000
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Lateral ventricle dilatation OMIM:612301
Keppen-Lubinsky Syndrome
Narrow nasal bridge, Lateral ventricle dilatation, Underdeveloped nasal alae, Narrow naris OMIM:614098
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Lateral ventricle dilatation ORPHA:2148
Dextrocardia
Intestinal malrotation, Meckel diverticulum ORPHA:1666
Fanconi Anemia, Complementation Group C
Intrauterine growth retardation, Anemic pallor OMIM:227645
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Protein-losing enteropathy, High palate ORPHA:1655
Autosomal Recessive Spastic Paraplegia Type 11
Lateral ventricle dilatation, Orthostatic hypotension ORPHA:2822
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Lateral ventricle dilatation OMIM:607485
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Wide nasal bridge, Depressed nasal bridge, Ventriculomegaly, Progressive ventriculomegaly, Latera... ORPHA:500150
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Aortic valve stenosis, Intrauterine growth retardation, Abnormal lateral ventricle morphology, Ca... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Aortic valve stenosis, Intrauterine growth retardation, Abnormal lateral ventricle morphology, Ca... ORPHA:353277
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Tricuspid regurgitation, Lateral ventricle dilatation, Cleft palate OMIM:263520
Diarrhea 10, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Hematochezia OMIM:618183
Whim Syndrome
Abnormal small intestine morphology, Parotitis ORPHA:51636
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hypoplasia of the small intestine OMIM:200995
Fanconi Anemia, Complementation Group E
Anemic pallor OMIM:600901
Fanconi Anemia, Complementation Group A
Anemic pallor OMIM:227650
Chromosome 1P36 Deletion Syndrome, Distal
Wide nasal bridge, Depressed nasal ridge, Depressed nasal bridge, Dilated cardiomyopathy, Lateral... OMIM:607872
Neurocardiofaciodigital Syndrome
Overhanging nasal tip, Dilated fourth ventricle, Lateral ventricle dilatation OMIM:619869
Kabuki Syndrome 1
Wide nasal bridge, Lateral ventricle dilatation, Depressed nasal tip, Hydrocephalus, Cleft palate OMIM:147920
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Depressed nasal bridge, Anteverted nares, Lateral ventricle dilatation OMIM:300868
Tarp Syndrome
Glossoptosis, Abnormal duodenum morphology, Tongue nodules, Cleft palate ORPHA:2886
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Congenital shortened small intestine, Meckel diverticulum, Intestinal malrotation, Tracheoesophag... OMIM:265380
Biliary, Renal, Neurologic, And Skeletal Syndrome
Aortic regurgitation, Bidirectional shunt, Depressed nasal bridge, Lateral ventricle dilatation, ... OMIM:619534
Congenital Disorder Of Glycosylation, Type Iim
Wide nasal bridge, Intrauterine growth retardation, Hypertension, Lateral ventricle dilatation OMIM:300896
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Short umbilical cord, Lateral ventricle dilatation OMIM:618367
Genitopatellar Syndrome
Wide nasal bridge, Prominent nose, Prominent nasal bridge, Agenesis of corpus callosum, Colpoceph... OMIM:606170
Craniofacial Microsomia 1
Occipital encephalocele, Branchial anomaly, Agenesis of corpus callosum, Hydrocephalus, Cleft pal... OMIM:164210
Autosomal Recessive Polycystic Kidney Disease
Protein-losing enteropathy, Gastrointestinal hemorrhage, Hepatoblastoma, Cholangiocarcinoma, Fat ... ORPHA:731
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Intestinal malrotation, Hiatus hernia, Abnormal duodenum morphology, High palate, Cleft palate OMIM:601776
6Q Terminal Deletion Syndrome
Colpocephaly ORPHA:75857
Goodpasture Syndrome
Pulmonary hemorrhage, Pallor OMIM:233450
Congenital Total Pulmonary Venous Return Anomaly
Right ventricular failure, Tricuspid regurgitation, Pallor, Mitral regurgitation, Pulmonary arter... ORPHA:99125
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Aortic valve stenosis, Wide nasal bridge, Submucous cleft of soft and hard palate, Lateral ventri... ORPHA:261552
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Aortic valve stenosis, Wide nasal bridge, Submucous cleft of soft and hard palate, Lateral ventri... ORPHA:261537
Choreoacanthocytosis
Dilated cardiomyopathy, Lateral ventricle dilatation ORPHA:2388
Liver Disease, Severe Congenital
Protein-losing enteropathy, Chronic gastritis OMIM:619991

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 Trim71

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 Trim71.

No publications found that use IMPC mice or data for Trim71.

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MGI Allele Allele Type Produced
Trim71tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Trim71tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Trim71tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue
Trim71tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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