Gene Summary

Name:
tripartite motif-containing 71
Synonyms:
LOC382112,  lin-41,  mlin-41,  Lin41,  2610206G21Rik,  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
preweaning lethality, complete penetrance Trim71tm1.1(KOMP)Vlcg HOM   Early adult 0.00
abnormal ileum morphology Trim71tm1.1(KOMP)Vlcg HET Early adult 0.00
abnormal jejunum morphology Trim71tm1.1(KOMP)Vlcg HET 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
Epididymis  Section images heterozygote 50% (1 of 2)
Ileum  Section images heterozygote 50% (1 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
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 Not available
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)
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
Jejunum N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote Not available
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 Not available
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)
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)
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 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood 0.0%
bone marrow 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cecum 2.97% (11 of 370)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
chest bone Unavailable
colon 8.73% (11 of 126)
diaphragm 0.0%
duodenum 0.79% (1 of 126)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 584)
hindlimb 0.0%
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
ileum 10.32% (13 of 126)
jejunum 3.97% (5 of 126)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
stomach pyloric region 0.0%
striatum 0.51% (3 of 584)
sublingual gland 0.0%
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
tongue 3.97% (5 of 126)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.67% (14 of 381)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

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 Communicating, 1
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
Jejunal Atresia
Jejunal atresia OMIM:243600
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Mucocutaneous Ulceration, Chronic
Ileitis OMIM:618287
Colonic Varices Without Portal Hypertension
Colonic varices, Intestinal bleeding OMIM:120440
Lactose Intolerance, Adult Type
Lactose intolerance, Decreased small intestinal mucosa lactase level OMIM:223100
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Pancreatic Lipase Deficiency
Fat malabsorption, Steatorrhea OMIM:614338
Diarrhea 9
Villous atrophy OMIM:618168
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Duodenal Atresia
Duodenal atresia OMIM:223400
Fryns Microphthalmia Syndrome
Facial cleft, Neural tube defect OMIM:600776
Congenital Short Bowel Syndrome
Decreased intestinal transit time, Abnormal peristalsis, Intestinal malrotation, Steatorrhea, Con... OMIM:615237
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Fat malabsorption, Small bowel diverticula, Jejunoileal ulceration OMIM:221400
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Bile Acid Malabsorption, Primary, 1
Fat malabsorption, Steatorrhea OMIM:613291
Inflammatory Bowel Disease (Crohn Disease) 30
Esophagitis, Duodenitis, Ileitis, Protein-losing enteropathy, Pancolitis, Gastritis, Abnormal int... OMIM:619079
Anophthalmia Plus Syndrome
Spina bifida, Choanal atresia, Abnormal nasal morphology, Facial cleft ORPHA:1104
Supernumerary Nostril
Supernumerary naris, Choanal atresia, Facial cleft, Abnormality of ethmoid sinus ORPHA:141096
Gastric Volvulus, Intrathoracic
Hiatus hernia, Volvulus OMIM:137210
Diarrhea 2, With Microvillus Atrophy
Villous atrophy, Abnormal intestine morphology OMIM:251850
Diverticulosis, Small-Intestinal
Jejunoileal diverticula, Duodenal diverticula, Ulcerative colitis, Jejunal diverticula OMIM:223320
Annular Pancreas
Duodenal stenosis, High intestinal obstruction ORPHA:675
Pancreas, Annular
Duodenal stenosis, High intestinal obstruction OMIM:167750
Lactase Deficiency, Congenital
Lactose intolerance, Decreased small intestinal mucosa lactase level OMIM:223000
Congenital Hydrocephalus
Bulbous nose, Hydrocephalus, Ventriculomegaly, Small cerebral cortex, Abnormal cortical gyration,... ORPHA:2185
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Holoprosencephaly, Facial cleft, Absent septum pellucidum OMIM:601357
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy OMIM:613217
Acute Peripheral Arterial Occlusion
Abnormal capillary physiology, Myocardial infarction, Supraventricular tachycardia, Abnormality o... ORPHA:90064
Chronic Intestinal Pseudoobstruction
Abnormal intestine morphology, Pyloric stenosis, Intestinal malrotation ORPHA:2978
Frontofacionasal Dysplasia
Short nose, Depressed nasal ridge, Hypoplasia of the corpus callosum, Choanal atresia, Bifid nasa... ORPHA:1791
Visceral Myopathy 2
Megaduodenum, Hiatus hernia, Esophagitis, Dysphagia, Gastroesophageal reflux, Intestinal malrotat... OMIM:619350
Frontonasal Dysplasia 3
Underdeveloped nasal alae, Facial cleft, Wide nasal bridge OMIM:613456
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Protein-losing enteropathy OMIM:615863
Oculocerebrocutaneous Syndrome
Aplasia/Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria, Dandy-Walker malform... ORPHA:1647
Polyrrhinia
Supernumerary naris, Abnormal third ventricle morphology, Abnormality of the nasal bone, Dilation... ORPHA:141091
Hypertelorism, Microtia, Facial Clefting Syndrome
Bifid nose, Microcephaly, Facial cleft, Broad nasal tip OMIM:239800
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Hypoplasia of the corpus callosum, Intrauterine growth retardation, Abnormal lateral ventricle mo... ORPHA:488635
Oculomaxillofacial Dysostosis
Abnormality of the nose, Underdeveloped nasal alae, Facial cleft, Wide nasal bridge ORPHA:1794
Retinitis Pigmentosa 42
Pallor OMIM:612943
Acrofacial Dysostosis, Catania Type
Short nose, Spina bifida occulta, Intrauterine growth retardation, Microcephaly, Facial cleft ORPHA:1786
Alg13-Cdg
Anteverted nares, Abnormal lateral ventricle morphology ORPHA:324422
Glutamine Deficiency, Congenital
Short nose, Hypoplasia of the corpus callosum, Wide nasal bridge, Erythema, Subependymal cysts, N... OMIM:610015
Peroxisome Biogenesis Disorder 6A (Zellweger)
Pachygyria, Colpocephaly, Wide nasal bridge OMIM:614870
Mosaic Trisomy 9
Spina bifida, Bulbous nose, Ventriculomegaly, Intrauterine growth retardation, Microcephaly, Dand... ORPHA:99776
Facial Clefting, Oblique, 1
Facial cleft OMIM:600251
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Choanal atresia, Facial cleft, Depressed nasal ridge OMIM:607597
Retinitis Pigmentosa 60
Pallor OMIM:613983
Retinitis Pigmentosa 81
Pallor OMIM:617871
Vascular Hyalinosis
Protein-losing enteropathy, Malabsorption, Hematochezia OMIM:277175
Hypercholanemia, Familial 1
Fat malabsorption, Steatorrhea OMIM:607748
Hb Bart'S Hydrops Fetalis
Pericarditis, Congestive heart failure, Pallor, Hydrocephalus ORPHA:163596
Duodenal Ulcer, Hyperpepsinogenemic I
Duodenal ulcer OMIM:126850
Optic Atrophy 9
Pallor OMIM:616289
Mycophenolate Mofetil Embryopathy
Agenesis of corpus callosum, Hydrocephalus, Tracheomalacia, Bifid nose, Tracheoesophageal fistula... ORPHA:268249
Isolated Arrhinia
Absent nasal septal cartilage, Aplasia/Hypoplasia of the nasal septum, Hypoplasia of the nasal bo... ORPHA:1134
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Cerebrooculonasal Syndrome
Abnormality of the nares, Facial cleft ORPHA:66625
Peripheral Cone Dystrophy
Pallor OMIM:609021
Intussusception
Intussusception OMIM:147710
Atresia Of Small Intestine
Intestinal hypoplasia, Intestinal malrotation, Jejunal atresia ORPHA:1201
Retinohepatoendocrinologic Syndrome
Pallor OMIM:268040
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus, Cerebral calcification ORPHA:73256
Alpha-Heavy Chain Disease
Abnormality of the small intestine, Malabsorption ORPHA:100025
Polymicrogyria Due To Tubb2B Mutation
Cavum septum pellucidum, Pachygyria, Abnormal caudate nucleus morphology, Hypoplasia of the corpu... ORPHA:300573
Dermatitis, Atopic
Allergic rhinitis, Pallor, Facial erythema, Dry skin OMIM:603165
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy OMIM:619063
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Acrofacial Dysostosis, Weyers Type
Facial cleft ORPHA:952
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Agenesis of corpus callosum, Hydrocephalus, Dilation of lateral ventricles OMIM:300864
Pancreatic Colipase Deficiency
Fat malabsorption, Steatorrhea ORPHA:309108
Fraser Syndrome 1
Laryngeal atresia, Underdeveloped nasal alae, Choanal stenosis, Midline nasal groove, Cleft ala n... OMIM:219000
Secondary Short Bowel Syndrome
Small intestinal dysmotility, Villous atrophy, Aganglionic megacolon, Steatorrhea, Volvulus, Abno... ORPHA:95427
Optic Atrophy 1
Pallor OMIM:165500
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Bulbous nose, Ventriculomegaly, Simplified gyral pattern, Colpocepha... OMIM:615219
Primary Lateral Sclerosis, Juvenile
Cerebral cortical atrophy, Pallor OMIM:606353
Familial Focal Epilepsy With Variable Foci
Hemimegalencephaly, Polymicrogyria, Pallor, Focal cortical dysplasia ORPHA:98820
Mental Retardation, Autosomal Dominant 48
Anteverted nares, Hypoplasia of the corpus callosum, Dilated fourth ventricle, Polymicrogyria, Mi... OMIM:617751
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Tremor-Nystagmus-Duodenal Ulcer Syndrome
Duodenal ulcer ORPHA:3350
Unilateral Hemispheric Polymicrogyria
Cerebral hypoplasia, Cortical dysplasia, Thick cerebral cortex, Dilation of lateral ventricles ORPHA:101071
Spontaneous Periodic Hypothermia
Arrhythmia, Pallor, Aplasia/Hypoplasia of the corpus callosum ORPHA:29822
Autoimmune Hemolytic Anemia, Cold Type
Pallor ORPHA:228312
Duodenal Ulcer Due To Antral G-Cell Hyperfunction
Duodenal ulcer OMIM:126840
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intestinal polyposis, Intussusception OMIM:175510
Retinitis Pigmentosa 70
Pallor OMIM:615922
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Dilation of lateral ventricles, Spina bifida occulta, Microcephaly, Agenesis of corpus callosum, ... OMIM:618736
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Hyperinsulinism Due To Ucp2 Deficiency
Palpitations, Syncope, Tachycardia, Pallor, Hypertrophic cardiomyopathy ORPHA:276556
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Polymicrogyria, Agenesis of corpus callosum, Colpocephaly ORPHA:250972
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Malabsorption OMIM:600955
Trigonocephaly 1
Meckel diverticulum OMIM:190440
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Congestive heart failure, Pallor, Cardiac arrest ORPHA:49827
Retinitis Pigmentosa 27
Pallor OMIM:613750
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Palpitations, Syncope, Tachycardia, Pallor, Hypertrophic cardiomyopathy ORPHA:276575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Palpitations, Syncope, Tachycardia, Pallor, Hypertrophic cardiomyopathy ORPHA:276580
Mungan Syndrome
Megaduodenum, Hypoperistalsis, Barrett esophagus, Intestinal pseudo-obstruction OMIM:611376
Rheumatic Fever
Arrhythmia, Pericarditis, Abnormal pleura morphology, Myocarditis, Hemiballismus, Epistaxis, Eryt... ORPHA:3099
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor, Hypertrophic cardiomyopathy OMIM:612989
Short Rib-Polydactyly Syndrome
Abnormal larynx morphology, Abnormal epiglottis morphology, Abnormal cerebral morphology, Intraut... ORPHA:1505
Disorder Of Bile Acid Synthesis
Fat malabsorption ORPHA:79168
Pyruvate Dehydrogenase E1-Alpha Deficiency
Basal ganglia necrosis, Basal ganglia gliosis, Basal ganglia cysts, Hypoplasia of the corpus call... ORPHA:79243
Evans Syndrome
Petechiae, Pallor, Epistaxis, Syncope ORPHA:1959
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Pallor ORPHA:276608
Cyclic Vomiting Syndrome
Microcephaly, Pallor, Cardiomyopathy OMIM:500007
Colonic Atresia
Peptic ulcer, Duodenal stenosis, Colonic atresia ORPHA:1198
Breath-Holding Spells
Pallor OMIM:607578
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Diverticulosis Of Bowel, Hernia, And Retinal Detachment
Small bowel diverticula, Colonic diverticula OMIM:223330
Fumarase Deficiency
Agenesis of corpus callosum, Choroid plexus cyst, Cerebral atrophy, Polymicrogyria, Pallor, Micro... OMIM:606812
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Lissencephaly, Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia, Primary micro... ORPHA:284417
Hyperinsulinism Due To Hnf1A Deficiency
Palpitations, Tachycardia, Pallor, Syncope ORPHA:324575
Non-Functioning Paraganglioma
Palpitations, Hypertension associated with pheochromocytoma, Positive regitine blocking test, Sin... ORPHA:94080
Immunodeficiency 31C
Villous atrophy, Abnormal intestine morphology OMIM:614162
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Pyloric stenosis, Intestinal malrotation, Congenital shortened small intestine, Intestinal pseudo... OMIM:300048
Kcnq2-Related Epileptic Encephalopathy
Facial erythema, Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Ce... ORPHA:439218
Retinitis Pigmentosa 73
Pallor OMIM:616544
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Microcephaly, Polymicrogyria, Anteverted nares, Colpocephaly OMIM:618731
Fanconi Anemia, Complementation Group I
Colpocephaly, Absent septum pellucidum, Intrauterine growth retardation, Microcephaly, Pallor, Ag... OMIM:609053
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Underdeveloped nasal alae, Aplasia/Hypoplasia of the frontal sinuses, Lipoma of corpus callosum, ... ORPHA:306542
Martinez-Frias Syndrome
Intestinal hypoplasia, Intestinal malrotation, Jejunal atresia, Duodenal atresia, Tracheoesophage... OMIM:601346
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Secondary microcephaly, Cerebral atrophy, Pallor OMIM:613839
Congenital Enterocyte Heparan Sulfate Deficiency
Protein-losing enteropathy, Hematochezia ORPHA:103910
Holoprosencephaly 1
Ethmocephaly, Alobar holoprosencephaly, Aplasia of the nose, Proboscis, Microcephaly, Agenesis of... OMIM:236100
Treacher-Collins Syndrome
Branchial fistula, Choanal atresia, Wide nasal bridge, Tracheoesophageal fistula, Facial cleft ORPHA:861
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Eosinophilic Gastroenteritis
Hematochezia, Dysphagia, Abnormality of the gastrointestinal tract, Steatorrhea, Protein-losing e... ORPHA:2070
Histiocytoid Cardiomyopathy
Right bundle branch block, Hydrocephalus, Wolff-Parkinson-White syndrome, Atrial flutter, Atrial ... ORPHA:137675
Congenital Bile Acid Synthesis Defect Type 4
Fat malabsorption ORPHA:79095
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Bartsocas-Papas Syndrome 1
Short nose, Underdeveloped nasal alae, Intrauterine growth retardation, Facial cleft, Dry skin OMIM:263650
Anemia, Hypochromic Microcytic, With Iron Overload 2
Pallor OMIM:615234
Weiss-Kruszka Syndrome
Agenesis of corpus callosum, Short nose, Hypoplasia of the corpus callosum, Ventriculomegaly, Ant... OMIM:618619
Microvillus Inclusion Disease
Villous atrophy, Abnormality of small intestinal villus morphology ORPHA:2290
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Depressed nasal tip, Bulbous nose, Abnormal caudate nucleus morphology, Choroid plexus cyst, Thic... ORPHA:293725
Autoinflammatory Syndrome, Familial, Behcet-Like
Ileal ulcer, Colitis OMIM:616744
Pontocerebellar Hypoplasia, Type 13
Pleural effusion, Hypoplasia of the corpus callosum, Hypoplastic hippocampus, Microcephaly, Dandy... OMIM:618606
Cardiofaciocutaneous Syndrome 4
Hypoplasia of the corpus callosum, Pulmonic stenosis, Abnormal lateral ventricle morphology OMIM:615280
Ventriculomegaly With Defects Of The Radius And Kidney
Ventriculomegaly, Hydrocephalus, Dilation of lateral ventricles OMIM:602200
D-2-Hydroxyglutaric Aciduria 1
Aortic regurgitation, Dilation of lateral ventricles, Subependymal cysts, Multifocal cerebral whi... OMIM:600721
Autosomal Recessive Spastic Paraplegia Type 66
Hypoplasia of the corpus callosum, Colpocephaly ORPHA:401815
Triopia
Midline facial cleft, Laryngomalacia ORPHA:3374
Thoraco-Abdominal Enteric Duplication
Duodenal stenosis, Intestinal malrotation ORPHA:1759
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Open operculum, Absent septum pellucidum, Ventriculomegaly, Dilation of lateral ventricles, Recur... ORPHA:397715
Hypotonia, Infantile, With Psychomotor Retardation
Hypoplasia of the corpus callosum, Dilation of lateral ventricles OMIM:616816
Congenital Disorder Of Glycosylation, Type Ib
Villous atrophy, Protein-losing enteropathy OMIM:602579
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Pachygyria, Exencephaly, Wide nasal bridge, Polymicrogyria, Abnormal cortical gyration, Macrogyri... ORPHA:2211
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microcephaly, Facial cleft ORPHA:1236
Abetalipoproteinemia
Fat malabsorption OMIM:200100
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pallor OMIM:608423
Microphthalmia-Brain Atrophy Syndrome
Microcephaly, Diffuse cerebral atrophy, Corpus callosum atrophy, Dilation of lateral ventricles ORPHA:77299
Myoclonus, Intractable, Neonatal
Microcephaly, Progressive leukoencephalopathy, Pallor OMIM:617235
Hemiparkinsonism-Hemiatrophy Syndrome
Cerebral cortical hemiatrophy, Dilation of lateral ventricles ORPHA:306669
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis OMIM:614328
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy OMIM:618154
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Pallor, Tachycardia ORPHA:90037
Linear Skin Defects With Multiple Congenital Anomalies 3
Ventricular tachycardia, Ventricular fibrillation, Cardiac arrest, Dilated cardiomyopathy, Agenes... OMIM:300952
Autosomal Dominant Non-Syndromic Intellectual Disability
Bilateral generalized polymicrogyria, Hypoplasia of the corpus callosum, Abnormal cerebral white ... ORPHA:178469
American Trypanosomiasis
Arrhythmia, Congestive heart failure, Myocarditis, Pallor, Cardiomyopathy ORPHA:3386
Beta-Thalassemia
Pallor, Skin ulcer, Hypertrophic cardiomyopathy ORPHA:848
Autoimmune Hemolytic Anemia
Arrhythmia, Pallor, Congestive heart failure ORPHA:98375
Myopathic Ehlers-Danlos Syndrome
Pallor, Laryngomalacia ORPHA:536516
Severe X-Linked Intellectual Disability, Gustavson Type
Short nose, Recurrent upper respiratory tract infections, Dilated fourth ventricle, Microcephaly,... ORPHA:3078
Leishmaniasis
Rhinitis, Skin ulcer, Pallor ORPHA:507
Deafness-Lymphedema-Leukemia Syndrome
Intracranial hemorrhage, Pallor, Recurrent respiratory infections ORPHA:3226
Combined Oxidative Phosphorylation Defect Type 39
Corpus callosum atrophy, Hypoplasia of the corpus callosum, Abnormal cerebral white matter morpho... ORPHA:565624
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Microcephaly, Pallor OMIM:600462
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Hypoplasia of the corpus callosum, Microcephaly, Dilation of lateral ventricles OMIM:618890
Malan Overgrowth Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Dilation of lateral ventricles, Depressed na... ORPHA:420179
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Abnormality of thalamus morphology, Type II lissencephaly, Normal pressure hydrocephalus, Hypopla... ORPHA:300570
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Glossitis, Hematochezia, Gastrointestinal carcinoma, Protein-losing enteropathy, Xerostomia, Hama... OMIM:175500
Pituitary Apoplexy
Elevated circulating growth hormone concentration, Abnormal caudate nucleus morphology, Hypotensi... ORPHA:95613
Bilateral Generalized Polymicrogyria
Diffuse white matter abnormalities, Hypoplasia of the corpus callosum, Hypoplastic hippocampus, A... ORPHA:208447
Cog5-Cdg
Cerebral white matter atrophy, Premature skin wrinkling, Wide nasal bridge, Intrauterine growth r... ORPHA:263487
Neurodevelopmental Disorder With Spastic Quadriplegia, Optic Atrophy, Seizures, And Structural Brain Anomalies
Semilobar holoprosencephaly, Agenesis of corpus callosum, Ventriculomegaly, Umbilical hernia, Int... OMIM:618651
Wars2-Related Combined Oxidative Phosphorylation Defect
Abnormal periventricular white matter morphology, Ventriculomegaly, Cerebral atrophy, Cardiomyopa... ORPHA:572798
3Mc Syndrome 3
Facial cleft OMIM:248340
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Steatorrhea, Anal atresia, Abnormal... ORPHA:92050
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Bifid epiglottis, Agenesis of corpus callosum, Ventriculomegaly, Wide nose, Pulmonary hypoplasia,... ORPHA:93271
Panhypophysitis
Panhypopituitarism, Orthostatic hypotension, Pituitary hypothyroidism, Abnormality of the posteri... ORPHA:95513
Spondyloenchondrodysplasia
Abnormal periventricular white matter morphology, Ventriculomegaly, Pneumonia, Hypertension, Cere... ORPHA:1855
Slc35A2-Cdg
Cerebral white matter atrophy, Hypoplasia of the corpus callosum, Abnormal cerebral white matter ... ORPHA:356961
Constricting Bands, Congenital
Facial cleft, Abnormal lung lobation OMIM:217100
Sporadic Pheochromocytoma/Secreting Paraganglioma
Palpitations, Hypertension associated with pheochromocytoma, Positive regitine blocking test, Sin... ORPHA:276621
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor OMIM:615631
Adenohypophysitis
Panhypopituitarism, Orthostatic hypotension, Pituitary hypothyroidism, Abnormal thalamic MRI sign... ORPHA:95512
Primary Myelofibrosis
Purpura, Petechiae, Portal hypertension, Pallor, Ecchymosis ORPHA:824
Dravet Syndrome
Dysgenesis of the hippocampus, Pallor ORPHA:33069
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Cerebral atrophy, Dilation of lateral ventricles, Partial agenesis of the corpus callosum OMIM:617296
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Purpura, Pleural effusion, Epistaxis, Congestive heart failure, Reti... ORPHA:33226
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Microcephaly, Abnormal cerebral white matter morphology, Pallor OMIM:246450
Acquired Idiopathic Sideroblastic Anemia
Congestive heart failure, Pallor ORPHA:75564
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Diffuse cerebral atrophy, Dilation of lateral ventricles ORPHA:363654
Non-Functioning Pituitary Adenoma
Panhypopituitarism, Abnormality of the pituitary gland, Increased circulating gonadotropin level,... ORPHA:91349
Fructose-1,6-Bisphosphatase Deficiency
Ventriculomegaly, Tachycardia, Pallor ORPHA:348
16Q24.3 Microdeletion Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Dilated cardiomyopathy, Mitral regurgitation... ORPHA:261250
Cach Syndrome
T2 hypointense thalamus, Cerebral atrophy, Intrauterine growth retardation, Microcephaly, Dilatio... ORPHA:135
Cholestasis, Progressive Familial Intrahepatic, 1
Fat malabsorption OMIM:211600
Distal Monosomy 10Q
Cavum septum pellucidum, Short nose, Wide nasal bridge, Spina bifida occulta, Microcephaly, Promi... ORPHA:96148
Sheehan Syndrome
Panhypopituitarism, Palpitations, Orthostatic hypotension, Pituitary hypothyroidism, Bradycardia,... ORPHA:91355
Autoimmune Hemolytic Anemia, Warm Type
Congestive heart failure, Pallor, Tachycardia ORPHA:90033
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Pallor ORPHA:90036
Mitchell-Riley Syndrome
Intestinal malrotation, Jejunal atresia, Anteriorly placed anus, Duodenal atresia, Malabsorption OMIM:615710
Microcolon
Microcolon OMIM:251400
Bile Acid Synthesis Defect, Congenital, 4
Fat malabsorption OMIM:214950
Dominant Beta-Thalassemia
Arrhythmia, Hypopituitarism, High-output congestive heart failure, Dilated cardiomyopathy, Pallor... ORPHA:231226
Craniorachischisis
Cervical spina bifida, Sirenomelia, Spinal dysraphism, Anencephaly, Myelomeningocele ORPHA:63260
Retinitis Pigmentosa 51
Pallor OMIM:613464
Refractory Celiac Disease
Protein-losing enteropathy, Villous atrophy, Malabsorption, Jejunitis ORPHA:398063
Paroxysmal Nocturnal Hemoglobinuria
Angina pectoris, Pulmonary embolism, Myocardial infarction, Pulmonary arterial hypertension, Tran... ORPHA:447
Netherton Syndrome
Villous atrophy, Intestinal atresia, Abnormal intestine morphology OMIM:256500
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Hypoplasia of the corpus callosum, Pulmonic stenosis, Dilation of lateral ventricles, Umbilical h... OMIM:618914
Harrod Syndrome
Malrotation of small bowel, Aganglionic megacolon, High palate, High, narrow palate, Pyloric sten... OMIM:601095
Hydrocephalus, Congenital Communicating, 1
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Multifocal hyperintensity of cerebral white ... ORPHA:488627
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor OMIM:611590
Hyperinsulinism Due To Hnf4A Deficiency
Tachycardia, Pallor ORPHA:263455
Trichohepatoenteric Syndrome 2
Villous atrophy, Colitis OMIM:614602
Beta-Thalassemia Major
Arrhythmia, Hypopituitarism, High-output congestive heart failure, Dilated cardiomyopathy, Pallor... ORPHA:231214
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pachygyria, Type II lissencephaly, Aplasia/Hypoplasia of the corpus callosum, Short nasal bridge,... OMIM:253280
Linear Skin Defects With Multiple Congenital Anomalies 1
Arrhythmia, Colpocephaly, Hydrocephalus, Absent septum pellucidum, Microcephaly, Agenesis of corp... OMIM:309801
Holoprosencephaly 13, X-Linked
Semilobar holoprosencephaly, Agenesis of corpus callosum, Alobar holoprosencephaly, Aplasia of th... OMIM:301043
Aicardi Syndrome
Cavum septum pellucidum, Spina bifida, Pachygyria, Choroid plexus cyst, Microcephaly, Polymicrogy... OMIM:304050
Congenital Disorder Of Glycosylation, Type Ih
Protein-losing enteropathy OMIM:608104
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Meckel diverticulum, Dysphagia ORPHA:163961
Hereditary Pheochromocytoma-Paraganglioma
Palpitations, Hypertension associated with pheochromocytoma, Positive regitine blocking test, Sin... ORPHA:29072
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatocellular carcinoma, Fat malabsorption OMIM:601847
Hereditary Folate Malabsorption
Pallor, Recurrent respiratory infections, Cerebral calcification ORPHA:90045
Myelofibrosis
Pallor, Purpura OMIM:254450
Prolactinoma
Abnormality of the pituitary gland, Elevated circulating growth hormone concentration, Anterior h... ORPHA:2965
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Pachygyria, Cerebral white matter atrophy, Abnormal caudate nucleus morphology, Hypoplasia of the... ORPHA:2148
Irida Syndrome
Pallor ORPHA:209981
Cold Agglutinin Disease
Pallor ORPHA:56425
Basel-Vanagaite-Smirin-Yosef Syndrome
Cavum septum pellucidum, Hypoplasia of the corpus callosum, Cerebral atrophy, Microcephaly, Promi... ORPHA:464738
Sepsis In Premature Infants
Purpura, Hypotension, Bradycardia, Petechiae, Tachycardia, Pallor ORPHA:90051
Meconium Ileus
Meconium ileus, Microcolon OMIM:614665
Beta-Thalassemia Intermedia
Pulmonary arterial hypertension, Pallor, Skin ulcer, High-output congestive heart failure ORPHA:231222
Khan-Khan-Katsanis Syndrome
Short nose, Tricuspid regurgitation, Intrauterine growth retardation, Microcephaly, Colpocephaly OMIM:618460
3-Hydroxy-3-Methylglutaric Aciduria
Hypotension, Cardiac arrest, Leukoencephalopathy, Dilated cardiomyopathy, Microcephaly, Pallor ORPHA:20
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Enterocolitis OMIM:616050
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Bulbous nose, Dysplastic corpus callosum, Hyperintensity of cerebral white matter on MRI, Thick c... ORPHA:544488
Autosomal Recessive Spastic Paraplegia Type 11
Focal T2 hyperintense basal ganglia lesion, Frontal cortical atrophy, Orthostatic hypotension, Hy... ORPHA:2822
Serkal Syndrome
Malrotation of small bowel ORPHA:139466
Tsh-Secreting Pituitary Adenoma
Ventricular arrhythmia, Palpitations, Abnormality of the pituitary gland, Increased circulating g... ORPHA:91347
Paganini-Miozzo Syndrome
Dilation of lateral ventricles OMIM:301025
Congenital Dyserythropoietic Anemia Type Iii
Pallor, Melena ORPHA:98870
Weaver Syndrome
Absent septum pellucidum, Cutis laxa, Umbilical hernia, Dilation of lateral ventricles, Depressed... OMIM:277590
Retinitis Pigmentosa 75
Pallor OMIM:617023
Genitourinary And/Or Brain Malformation Syndrome
Agenesis of corpus callosum, Short nose, Absent septum pellucidum, Holoprosencephaly, Aplasia of ... OMIM:618820
Scleroderma
Abnormal stomach morphology, Intestinal bleeding, Abnormality of the gastrointestinal tract, Abno... ORPHA:801
Letterer-Siwe Disease
Pulmonary infiltrates, Pallor OMIM:246400
Kohlschutter-Tonz Syndrome-Like
Ventriculomegaly, Secondary microcephaly, Intrauterine growth retardation, Recurrent lower respir... OMIM:619229
Senior-Loken Syndrome 8
Pallor OMIM:616307
Autosomal Recessive Malignant Osteopetrosis
Hydrocephalus, Chronic rhinitis, Pulmonary artery stenosis, Pulmonary arterial hypertension, Pall... ORPHA:667
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Cavum septum pellucidum, Short nose, Abnormal cerebral white matter morphology, Abnormal corpus c... ORPHA:457279
X-Linked Intellectual Disability, Wilson Type
Microcephaly, Dilation of lateral ventricles ORPHA:85290
Cog8-Cdg
Protein-losing enteropathy ORPHA:95428
Beta-Ketothiolase Deficiency
Hypotension, Pallor, Hypertension ORPHA:134
Congenital Disorder Of Glycosylation, Type Id
Bifid uvula, High palate, Villous atrophy OMIM:601110
Mosaic Trisomy 1
Wide nasal bridge, Polymicrogyria, Pulmonary hypoplasia, Pulmonary artery atresia, Agenesis of co... ORPHA:1692
Myopathy, Mitochondrial, And Ataxia
Increased circulating prolactin concentration, Pallor OMIM:617675
Systemic Sclerosis
Abnormal stomach morphology, Intestinal bleeding, Abnormality of the gastrointestinal tract, Dysp... ORPHA:90291
Rare Circulatory System Disease
Pallor, Intermittent claudication ORPHA:98028
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Morphological abnormality of the gastrointestinal tract, Intestinal malrotation ORPHA:2847
Hereditary Spherocytosis
Restrictive cardiomyopathy, Pallor, Skin ulcer ORPHA:822
Chylomicron Retention Disease
Fat malabsorption, Steatorrhea ORPHA:71
Bare Lymphocyte Syndrome, Type Ii
Villous atrophy, Malabsorption, Colitis OMIM:209920
Prader-Willi Syndrome Due To Translocation
Short nose, Decreased response to growth hormone stimuation test, Anterior pituitary hypoplasia, ... ORPHA:177907
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hypotension, Tachycardia, Pallor, Syncope ORPHA:98849
Juvenile Polyposis Of Infancy
Hamartomatous polyposis, Intestinal bleeding, Gastrointestinal hemorrhage, Hematochezia, Intussus... ORPHA:79076
Idiopathic Hypereosinophilic Syndrome
Supraventricular arrhythmia, Pulmonary fibrosis, Intracranial hemorrhage, Pleural effusion, Vascu... ORPHA:3260
Bile Acid Synthesis Defect, Congenital, 1
Fat malabsorption, Steatorrhea OMIM:607765
X-Linked Non-Syndromic Intellectual Disability
Meckel diverticulum, Pyloric stenosis ORPHA:777
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Tay-Sachs Disease
Pallor OMIM:272800
Congenital Alveolar Capillary Dysplasia
Aganglionic megacolon, Intestinal malrotation, Anal atresia, Volvulus, Duodenal stenosis, Tracheo... ORPHA:210122
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Pallor, Recurrent upper and lower respiratory tract infections ORPHA:331206
Refractory Anemia With Excess Blasts
Anemic pallor, Palpitations, Retinal hemorrhage ORPHA:86839
Fanconi Anemia, Complementation Group D2
Anemic pallor, Agenesis of corpus callosum, Hydrocephalus, Hypoplasia of the corpus callosum, Mic... OMIM:227646
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Cerebral cortical atrophy, Lewy bodies, Dilation of lateral ventricles, Neurofibrillary tangles OMIM:607485
Elliptocytosis 1
Pallor OMIM:611804
Esophageal Atresia
Abnormal respiratory system morphology, Laryngotracheomalacia, Choanal atresia, Laryngeal cleft, ... ORPHA:1199
Visceral Myopathy 1
Megaduodenum, Dysphagia, Aganglionic megacolon, Intestinal pseudo-obstruction, Microcolon OMIM:155310
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Microcephaly, Dilation of lateral ventricles OMIM:619278
Incontinentia Pigmenti
Microcephaly, Pallor, Retinal hemorrhage, Erythema OMIM:308300
Alternating Hemiplegia Of Childhood
Arrhythmia, Cardiac conduction abnormality, Abnormal T-wave, Pallor, Cardiomyopathy ORPHA:2131
Von Hippel-Lindau Disease
Palpitations, Arrhythmia, Abnormal left ventricular function, Hypertension, Myocardial infarction... ORPHA:892
Storm Syndrome
Fat malabsorption OMIM:185069
Diamond-Blackfan Anemia 1
Tricuspid stenosis, Congestive heart failure, Depressed nasal ridge, Intrauterine growth retardat... OMIM:105650
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Childhood Absence Epilepsy
Pallor ORPHA:64280
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Hypoplasia of the corpus callosum, Narrow nasal tip, Cerebral white matter hypoplasia, Wide nasal... ORPHA:477993
Juvenile Polyposis Syndrome
Rectal polyposis, Neoplasm of the gastrointestinal tract, Rectocele, Gastrointestinal hemorrhage,... ORPHA:2929
Scedosporiosis
Abnormal jejunum morphology ORPHA:449280
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Pallor ORPHA:300298
Glutaric Acidemia I
Dilation of lateral ventricles OMIM:231670
Multiple Endocrine Neoplasia Type 2
Palpitations, Hypertension associated with pheochromocytoma, Hypertensive crisis, Neoplasm of the... ORPHA:653
Aregenerative Anemia
Pallor ORPHA:101096
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Ileus OMIM:304790
Infection-Related Hemolytic Uremic Syndrome
Respiratory tract infection, Pleuritis, Hypertensive crisis, Pneumonia, Pleural empyema, Hyperten... ORPHA:544482
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Dilation of lateral ventricles, Recurrent pneumonia OMIM:612301
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Protein-losing enteropathy, High palate, Cleft palate OMIM:235255
Oculoskeletodental Syndrome
Macroglossia, Protein-losing enteropathy OMIM:618440
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor OMIM:300908
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Pallor OMIM:194380
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor OMIM:616959
Congenital Tracheal Stenosis
Meckel diverticulum, Abnormal stomach morphology, Morphological abnormality of the gastrointestin... ORPHA:141127
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemic pallor, Hematochezia ORPHA:329971
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Intestinal lymphangiectasia, Rectal prolapse, Narrow palate, Protein-losing enteropathy OMIM:235510
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pachygyria, Abnormality of the larynx, Tricuspid regurgitation, Pulmonary hypoplasia, Hypoplasia ... OMIM:263520
Goodpasture Syndrome
Ground-glass opacification, Pulmonary hemorrhage, Reticular pattern on pulmonary HRCT, Pulmonary ... OMIM:233450
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Progressive ventriculomegaly, Unilateral lung agenesis, Ischemic stroke, Short nose, Hypoplasia o... ORPHA:500150
Genitopatellar Syndrome
Agenesis of corpus callosum, Laryngomalacia, Pulmonary hypoplasia, Microcephaly, Prominent nasal ... OMIM:606170
Metachromatic Leukodystrophy
Abnormal stomach morphology, Abnormal duodenum morphology, Intussusception, Neoplasm of the gallb... ORPHA:512
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Convex nasal ridge, Cardiac conduction abnormality, Laryngeal cartilage malformation, Pneumonia, ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Convex nasal ridge, Cardiac conduction abnormality, Laryngeal cartilage malformation, Pneumonia, ... ORPHA:353277
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Villous atrophy, Chronic atrophic gastritis, Colitis OMIM:614700
Blackfan-Diamond Anemia
Microcephaly, Pallor, Wide nasal bridge, Depressed nasal bridge ORPHA:124
Congenital Disorder Of Glycosylation, Type Iim
Hypoplasia of the corpus callosum, Cerebral atrophy, Hypertension, Wide nasal bridge, Intrauterin... OMIM:300896
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Meckel diverticulum OMIM:602613
Fanconi Anemia, Complementation Group C
Intrauterine growth retardation, Microcephaly, Anemic pallor OMIM:227645
Dextrocardia
Meckel diverticulum, Intestinal malrotation ORPHA:1666
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Hiatus hernia, Abnormal duodenum morphology, Intestinal malrotation, Cleft palate, High palate OMIM:601776
6Q Terminal Deletion Syndrome
Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Polymicrogyria, Col... ORPHA:75857
Fanconi Anemia, Complementation Group E
Anemic pallor, Microcephaly OMIM:600901
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
High palate, Protein-losing enteropathy ORPHA:1655
Fanconi Anemia, Complementation Group A
Anemic pallor, Microcephaly OMIM:227650
Whim Syndrome
Abnormality of the small intestine, Parotitis ORPHA:51636
Diarrhea 10, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Hematochezia OMIM:618183
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hypoplasia of the small intestine OMIM:200995
Chromosome 1P36 Deletion Syndrome
Abnormal lung lobation, Pachygyria, Agenesis of corpus callosum, Noncompaction cardiomyopathy, Hy... OMIM:607872
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Villous atrophy OMIM:606367
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Right ventricular failure, Supracardiac tota... ORPHA:99125
Tarp Syndrome
Cleft palate, Abnormal duodenum morphology, Glossoptosis, Tongue nodules ORPHA:2886
Maternal Uniparental Disomy Of Chromosome 4
Fat malabsorption ORPHA:96180
Musculocontractural Ehlers-Danlos Syndrome
High palate, Malrotation of small bowel, Cleft palate ORPHA:2953
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Esophageal varix, Protein-losing enteropathy, Cholangiocarcinoma, Fa... ORPHA:731
Fryns Syndrome
Meckel diverticulum, Intestinal malrotation, Esophageal atresia, Aganglionic megacolon, Duodenal ... OMIM:229850
Parenteral Nutrition-Associated Cholestasis
Villous atrophy ORPHA:567983
Choreoacanthocytosis
Frontal cortical atrophy, Hypoplastic hippocampus, Cerebral cortical atrophy, Abnormal hippocampu... ORPHA:2388
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Cerebral white matter hypoplasia, Convex nasal ridge, Hypoplasia of the corpus callosum, Concave ... ORPHA:261552
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Esophageal carcinoma, Villous atrophy, Enterocolitis, Abnormal intestine morphology ORPHA:391487
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Convex nasal ridge, Depressed nasal tip, Agenesis of corpus callosum, Pulmonary artery sling, Hyp... ORPHA:261537
Syndromic Diarrhea
Villous atrophy, Gastritis, Hepatoblastoma, Colitis ORPHA:84064
Zygomycosis
Gastrointestinal hemorrhage, Hematemesis, Hematochezia, Ileitis, Unusual gastrointestinal infecti... ORPHA:73263
Mosaic Trisomy 16
Meckel diverticulum, Abnormality of the gastrointestinal tract, Anteriorly placed anus ORPHA:1708
Fanconi Anemia
Meckel diverticulum, Aplasia/Hypoplasia of the uvula, Aganglionic megacolon, Anal atresia, Cleft ... ORPHA:84
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Meckel diverticulum, Intestinal malrotation, Esophageal atresia, Duodenal atresia, Anal atresia, ... OMIM:265380
Isolated Biliary Atresia
Fat malabsorption ORPHA:30391
Trichohepatoenteric Syndrome 1
Bifid uvula, Villous atrophy OMIM:222470
Abetalipoproteinemia
Fat malabsorption, Steatorrhea ORPHA:14
Autosomal Recessive Cutis Laxa Type 1
Pyloric stenosis, Small bowel diverticula ORPHA:90349
Shwachman-Diamond Syndrome
Abnormality of the gastrointestinal tract, Fat malabsorption, Steatorrhea ORPHA:811
Trisomy 8P
Bifid uvula, Malrotation of small bowel, Cleft palate ORPHA:264450
Thrombocytopenia-Absent Radius Syndrome
Meckel diverticulum OMIM:274000
Wolf-Hirschhorn Syndrome
Gastroesophageal reflux, Malrotation of small bowel, Cleft palate OMIM:194190
Simpson-Golabi-Behmel Syndrome, Type 1
Meckel diverticulum, Macroglossia, Intestinal malrotation, Cleft palate OMIM:312870

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
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
Trim71tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, Targeting vectors, ES Cells

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