Gene Summary

Name:
transmembrane protein 94
Synonyms:
2310067B10Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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 tail movements Tmem94tm1a(EUCOMM)Wtsi HET   Early adult 5.49×10-05
increased mean corpuscular hemoglobin concentration Tmem94tm1a(EUCOMM)Wtsi HET Early adult 4.05×10-06
decreased circulating sodium level Tmem94tm1a(EUCOMM)Wtsi HET   Early adult 1.78×10-05

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Tmem94 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 Tmem94 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Tetralogy of Fallot, Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Double... OMIM:618316

The table below shows human diseases predicted to be associated to Tmem94 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Increased circulating ferritin concentration, Anemia ORPHA:231249
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Agyria, Intrauterine growth retardation, Gray matter heterotopia, Subcortical band heterotopia, M... OMIM:615411
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia, HbH hemoglobin OMIM:613978
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Abnormal corpus callosum morphology, Schizencephaly, Gray matter heterotopia, Microcephaly, Lisse... OMIM:604317
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia, Hyponatremia OMIM:616949
Miller-Dieker syndrome (MDS)
Midface retrusion, Microcephaly, Lissencephaly, Abnormal heart morphology, Frontal bossing DECIPHER:21
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Agyria, Gray matter heterotopia, Subcortical band heterotopia, Microcephaly, Pachygyria, Cortical... OMIM:615412
Lissencephaly 1
Agyria, Gray matter heterotopia, Subcortical band heterotopia, Lissencephaly, Pachygyria, Seconda... OMIM:607432
Microlissencephaly
Cerebral dysmyelination, Subcortical heterotopia, Periventricular heterotopia, Microcephaly, Liss... ORPHA:1083
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Lissencephaly, X-Linked, 1
Agyria, Agenesis of corpus callosum, Gray matter heterotopia, Lissencephaly, Pachygyria, Postnata... OMIM:300067
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia ORPHA:231393
Lissencephaly Syndrome, Norman-Roberts Type
Cerebral calcification, Prominent occiput, Agenesis of corpus callosum, Intrauterine growth retar... ORPHA:89844
Periventricular Nodular Heterotopia 7
Flexion contracture, Periventricular nodular heterotopia, Gray matter heterotopia, Micrognathia, ... OMIM:617201
Sub-Cortical Nodular Heterotopia
Subcortical heterotopia, Abnormality of the basal ganglia, Agenesis of corpus callosum, Abnormal ... ORPHA:101029
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Bilateral Striopallidodentate Calcinosis
Cerebral calcification, Intrauterine growth retardation, Microcephaly, Subcutaneous hemorrhage, A... ORPHA:1980
Lissencephaly 3
Agyria, Agenesis of corpus callosum, Gray matter heterotopia, Microcephaly, Lissencephaly, Pachyg... OMIM:611603
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal corpus callosum morphology, Microcephaly, Cortical dysplasia, Hydrocephalus, Abnormality... OMIM:618709
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Decreased circulating renin level, Decreased serum creatinine OMIM:300539
Maternal Hyperthermia-Induced Birth Defects
Intrauterine growth retardation, Midface retrusion, Microcephaly, Short stature, Abnormality of n... ORPHA:2216
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Progressive microcephaly, Periventricular nodular heterotopia, Periventricular heterotopia, Micro... OMIM:608097
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Gray matter heterotopia, Partial a... OMIM:604213
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia OMIM:614736
Band Heterotopia
Agenesis of corpus callosum, Gray matter heterotopia, Subcortical band heterotopia, Hydrocephalus... OMIM:600348
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:610600
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:203400
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Anemia, Thrombocytopenia ORPHA:3319
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Leukopenia, Hyperuricemia, Anemia, Hypomagnesemia, Thrombocytopenia OMIM:613845
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia OMIM:240200
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Agyria, Pachygyria, Gray matter heterotopia ORPHA:1084
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Decreased calvarial ossification, Intrauterine growth retardation, Microcephaly, Hypoplastic left... ORPHA:2772
Cyanosis, Transient Neonatal
Reticulocytosis, Anemia, Methemoglobinemia OMIM:613977
Congenital Muscular Dystrophy, Fukuyama Type
Dilated cardiomyopathy, Plagiocephaly, Flexion contracture, Intrauterine growth retardation, Doli... ORPHA:272
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Microcephaly, Short stature, Periventricular nodular heterotopia OMIM:618572
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Leukopenia, Hemophag... OMIM:267700
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase level, Increased mean corpuscular volume, Macrocytic anemia... OMIM:610629
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:300971
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Periventricular ribbonlike heterotopia, Lissencephaly, Thick cerebral cortex, Hypoplasia of the c... OMIM:618677
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:177735
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Leukocytosis, Hyponatremia, Thrombocytopenia ORPHA:83601
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Achilles tendon contracture, Congenital muscular dystrophy, Muscular dystrophy, EMG: myopathic ab... OMIM:608840
Congenital Muscular Dystrophy Without Intellectual Disability
Achilles tendon contracture, Limb-girdle muscle atrophy, Congenital muscular dystrophy, Reduced m... ORPHA:370980
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:556037
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia OMIM:618426
Periventricular Nodular Heterotopia 8
Microcephaly, Periventricular nodular heterotopia OMIM:618185
Porphyria Due To Ala Dehydratase Deficiency
Increased erythrocyte protoporphyrin concentration, Hyponatremia, Myeloproliferative disorder, Ab... ORPHA:100924
Polymicrogyria Due To Tubb2B Mutation
Abnormal corpus callosum morphology, Hypoplasia of the corpus callosum, Abnormal caudate nucleus ... ORPHA:300573
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperkalemia, Hyponatremia OMIM:264350
Periventricular Nodular Heterotopia 6
Gray matter heterotopia, Periventricular nodular heterotopia OMIM:615544
Congenital Hydrocephalus
Abnormal cortical gyration, Colpocephaly, Small cerebral cortex, Lissencephaly, Frontal bossing, ... ORPHA:2185
Alpha-Thalassemia
Microcytic anemia, Splenomegaly, Anemia, Hemolytic anemia, Abnormal hemoglobin, Hypersplenism ORPHA:846
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:556030
Central Diabetes Insipidus
Hyponatremia ORPHA:178029
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Leukop... OMIM:603553
Symmetrical Thalamic Calcifications
Cerebral calcification, Microcephaly, Abnormality of neuronal migration, Arrhythmia ORPHA:1314
Periventricular Nodular Heterotopia 1
Abnormality of neuronal migration, Gray matter heterotopia, Patent ductus arteriosus, Bicuspid ao... OMIM:300049
Herpes Simplex Virus Encephalitis
Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration, Hyponatremia ORPHA:1930
Lissencephaly 5
Hydrocephalus, Occipital encephalocele, Porencephalic cyst, Gray matter heterotopia, Subcortical ... OMIM:615191
Posttransplant Acute Limbic Encephalitis
Hyponatremia ORPHA:163921
Hyperkalemic Periodic Paralysis
Elevated circulating creatine kinase concentration, Hyperkalemia, Hypokalemia, Hyponatremia ORPHA:682
Hemimegalencephaly
Focal cortical dysplasia, Hyperintensity of cerebral white matter on MRI, Gray matter heterotopia... ORPHA:99802
Brain Small Vessel Disease 2
Subcortical heterotopia, Schizencephaly, Porencephalic cyst, Growth delay, Polymicrogyria, Intrac... OMIM:614483
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Gray matter heterotopia, Dysgyria, Hydrocephalus, Type II lissencephaly,... ORPHA:352682
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... OMIM:613673
Thanatophoric Dysplasia
Intrauterine growth retardation, Patent ductus arteriosus, Atrial septal defect, Gray matter hete... ORPHA:2655
Colchicine Poisoning
Hypokalemia, Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypocalcemia, Hypophos... ORPHA:31824
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia ORPHA:91354
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Elevated circulating creati... ORPHA:232
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hyponatremia, Hypochloremia OMIM:214700
Mismatch Repair Cancer Syndrome 4
Agenesis of corpus callosum, Gray matter heterotopia OMIM:619101
Peroxisome Biogenesis Disorder 13A (Zellweger)
Dolichocephaly, Delayed closure of the anterior fontanelle, Micrognathia, Large fontanelles, Flat... OMIM:614887
Snakebite Envenomation
Hyponatremia, Thrombocytopenia ORPHA:449285
Thanatophoric Dysplasia Type 2
Patent ductus arteriosus, Atrial septal defect, Cloverleaf skull, Frontal bossing, Short stature,... ORPHA:93274
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Alg8-Cdg
Anemia, Hyponatremia, Thrombocytopenia ORPHA:79325
3C Syndrome
Prominent occiput, Tetralogy of Fallot, Abnormal tricuspid valve morphology, Atrioventricular can... ORPHA:7
Wolcott-Rallison Syndrome
Hyponatremia, Neutropenia, Iron deficiency anemia, Hyperbilirubinemia, Hypoalbuminemia, Lymphocyt... ORPHA:1667
Pentasomy X
Plagiocephaly, Patent ductus arteriosus, Micrognathia, Microcephaly, Short stature, Camptodactyly... ORPHA:11
Generalized Pseudohypoaldosteronism Type 1
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:171876
Hereditary Coproporphyria
Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79273
Acalvaria
Spina bifida, Hydrocephalus, Holoprosencephaly, Abnormality of neuronal migration, Calvarial skul... ORPHA:945
Congenital Isolated Acth Deficiency
Hyponatremia ORPHA:199296
Intellectual Developmental Disorder, Autosomal Dominant 13
Plagiocephaly, Microcephaly, Pachygyria, Hypoplasia of the corpus callosum, Abnormality of neuron... OMIM:614563
Hemangioma-Thrombocytopenia Syndrome
Microangiopathic hemolytic anemia, Hyperkalemia, Thrombocytopenia OMIM:141000
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Intrauterine growth retardation, Patent ductus arteriosus, Atrial septal defect, Micrognathia, Mi... OMIM:618142
Mirage Syndrome
Hypoplastic spleen, Hyponatremia, Leukopenia, Hyperkalemia, Thrombocytopenia, Anemia, Lymphopenia OMIM:617053
Ritscher-Schinzel Syndrome 1
Prominent occiput, Tetralogy of Fallot, Intrauterine growth retardation, Atrial septal defect, Pu... OMIM:220210
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Schistocytosis, Hyponatremia, Elevated circulating creatinine concentration, Leukocy... ORPHA:90038
Familial Pseudohyperkalemia
Hyperkalemia, Increased mean corpuscular volume, Stomatocytosis, Reticulocytosis, Episodic hemoly... ORPHA:90044
Desmosterolosis
Abnormal cortical gyration, Intrauterine growth retardation, Agenesis of corpus callosum, Patent ... ORPHA:35107
Craniofacial Dyssynostosis With Short Stature
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Patent ductus arteriosus, Midface... OMIM:218350
Fetal Trimethadione Syndrome
Tetralogy of Fallot, Intrauterine growth retardation, Atrial septal defect, Micrognathia, Midface... ORPHA:1913
Necrotizing Enterocolitis
Neutropenia, Leukocytosis, Hyponatremia, Thrombocytopenia ORPHA:391673
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Skeletal muscle atrophy, Atrial septal defect, Knee flexion contracture, Frontal b... OMIM:603387
Autosomal Recessive Primary Microcephaly
Agenesis of corpus callosum, Hypoplasia of the frontal lobes, Growth delay, Gray matter heterotop... ORPHA:2512
Neuroleptic Malignant Syndrome
Hyponatremia, Leukocytosis, Thrombocytosis, Hyperkalemia, Hypocalcemia, Hyperuricemia, Elevated c... ORPHA:94093
Beta-Thalassemia
Microcytic anemia, Splenomegaly, Abnormality of iron homeostasis, Anemia, Abnormal hemoglobin, Th... ORPHA:848
Congenital Muscular Dystrophy With Cerebellar Involvement
Agenesis of corpus callosum, Congenital muscular dystrophy, Occipital encephalocele, Reduced musc... ORPHA:370959
3-Hydroxyisobutyric Aciduria
Microcephaly, Abnormality of neuronal migration, Congenital intracerebral calcification OMIM:236795
Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:427
Chédiak-Higashi Syndrome
Pancytopenia, Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Hepato... ORPHA:167
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Patent foramen ovale, Patent ductus arteriosus, Periventricular heterotopia, Atrial septal defect... OMIM:618870
Late-Onset Isolated Acth Deficiency
Eosinophilia, Hyponatremia, Normocytic anemia, Hypercalcemia, Hyperuricemia, Macrocytic anemia ORPHA:199299
Porphyria Variegata
Anemia, Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79473
Whipple Disease
Anemia, Hyponatremia, Splenomegaly ORPHA:3452
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypocalcemia, Hypoalbuminemia, Hypertriglyceridemia, Hypomagnesemia OMIM:618183
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypokalemia, Hyponatremia, Hypochloremia OMIM:613090
Li-Ghorbani-Weisz-Hubshman Syndrome
Patent ductus arteriosus, Periventricular heterotopia, Atrial septal defect, Ventricular septal d... OMIM:618974
Pyruvate Dehydrogenase E1-Beta Deficiency
Periventricular cysts, Agenesis of corpus callosum, Intrauterine growth retardation, Periventricu... ORPHA:255138
Legionnaires Disease
Hyponatremia, Lymphopenia, Splenomegaly ORPHA:549
Chronic Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hemolytic anemia, Hypernatremia, Hypoalbuminemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypoalbuminemia ORPHA:529799
Miller-Dieker Lissencephaly Syndrome
Agyria, Intrauterine growth retardation, Delayed eruption of teeth, Cavum septum pellucidum, Gray... OMIM:247200
Subependymal Nodular Heterotopia
Myelomeningocele, Focal cortical dysplasia, Occipital encephalocele, Nasofrontal encephalocele, G... ORPHA:101030
Lissencephaly 6 With Microcephaly
Periventricular heterotopia, Limb hypertonia, Microcephaly, Lissencephaly, Partial agenesis of th... OMIM:616212
Cholera
Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Hyponatremia ORPHA:173
9Q21.13 Microdeletion Syndrome
Craniosynostosis, Aplasia/Hypoplasia of the corpus callosum, Gray matter heterotopia, Abnormal he... ORPHA:531151
Thanatophoric Dysplasia, Type I
Severe short stature, Gray matter heterotopia, Cloverleaf skull, Frontal bossing, Hydrocephalus, ... OMIM:187600
Acute Adrenal Insufficiency
Hyponatremia, Normocytic anemia, Hypercalcemia, Increased circulating renin level, Hyperkalemia, ... ORPHA:95409
Adrenal Hypoplasia, Congenital
Hyponatremia OMIM:300200
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Abnormal tricuspid valve morphology, Congestive heart failure, Atria... ORPHA:90308
Bohring-Opitz Syndrome
Flexion contracture, Intrauterine growth retardation, Agenesis of corpus callosum, Prominent meto... OMIM:605039
Pseudo-Torch Syndrome 2
Cerebral calcification, Petechiae, Patent ductus arteriosus, Bradycardia, Gray matter heterotopia... OMIM:617397
Shigellosis
Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Microangiopathic hemolytic anemia, ... ORPHA:810
Neu-Laxova Syndrome
Abnormal cortical gyration, Cerebral calcification, Prominent occiput, Flexion contracture, Intra... ORPHA:2671
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Cerebral atrophy, Patent foramen ovale, Facial hypotonia, Midface retrusion, Frontal bossing, Bra... OMIM:615539
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Abnormal lymphocyte morphology, Autoimmune thrombocytopenia, Hyponatremia, Severe B lymphocytopenia ORPHA:293978
Infant Botulism
Hyponatremia ORPHA:178478
Hepatocellular Carcinoma
Hypokalemia, Hyponatremia, Hypercalcemia, Thrombocytosis, Anemia, Hyperbilirubinemia, Hypoalbumin... ORPHA:88673
Periventricular Nodular Heterotopia
Abnormal heart valve morphology, Aortic regurgitation, Patent ductus arteriosus, Periventricular ... ORPHA:98892
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cerebral atrophy, Patent ductus arteriosus, Delayed closure of the anterior fontanelle, Atrial se... OMIM:614886
Carnitine Palmitoyltransferase Ii Deficiency
Cerebral calcification, Rhabdomyolysis, Abnormality of the basal ganglia, Agenesis of corpus call... ORPHA:157
Adenohypophysitis
Normochromic anemia, Hyponatremia ORPHA:95512
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Biparietal narrowing, Intrauterine growth retardation, Microcephaly, Short stature, Cerebral cort... ORPHA:2518
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Agyria, Hydrocephalus, Subcortical heterotopia, Muscular dystrophy, Gray matter heterotopia, Part... OMIM:614643
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypokalemia, Hyponatremia, Hypochloremia OMIM:602522
Dysplastic Cortical Hyperostosis
Microcephaly, Short stature, Abnormality of neuronal migration ORPHA:2204
Coffin-Lowry Syndrome
Delayed eruption of teeth, Abnormal tricuspid valve morphology, Skeletal muscle atrophy, Aplasia/... ORPHA:192
Pituitary Apoplexy
Normochromic anemia, Hyponatremia ORPHA:95613
Cerebrofacioarticular Syndrome
Dysplastic corpus callosum, Agenesis of corpus callosum, Gray matter heterotopia, Pulmonic stenos... ORPHA:314679
Juvenile Nephropathic Cystinosis
Hypokalemia, Hyponatremia, Elevated circulating creatinine concentration, Hypocalcemia, Hypourice... ORPHA:411634
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Agenesis of corpus callosum, Atrial septal defect, Micrognathia, Short stature, Brachycephaly, Hy... ORPHA:459061
Panhypophysitis
Normochromic anemia, Hyponatremia ORPHA:95513
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cerebral calcification, Abnormal myocardium morphology, Cardiomegaly, Abnormality of the basal ga... ORPHA:228308
Vici Syndrome
Agenesis of corpus callosum, Gray matter heterotopia, Short stature, Cardiomyopathy, Cerebral cor... ORPHA:1493
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Agenesis of corpus callosum, Occipital encephalocele, Anencephaly, Muscular dystrophy, Gray matte... OMIM:615287
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hepatosplenomegaly, Vacuolated lymphocytes, Hypercholesterolemia, Hyperkalemia, Ane... ORPHA:275761
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:90791
Edinburgh Malformation Syndrome
Frontal bossing, Abnormality of neuronal migration, Micrognathia, Hydrocephalus ORPHA:1895
Developmental Delay With Variable Neurologic And Brain Abnormalities
Gray matter heterotopia, Micrognathia, Knee flexion contracture, Microcephaly, Thin corpus callos... OMIM:619694
Familial Glucocorticoid Deficiency
Hyperkalemia, Hyponatremia ORPHA:361
Addison Disease
Hyponatremia, Normocytic anemia, Hypercalcemia, Increased circulating renin level, Hyperkalemia, ... ORPHA:85138
Alg12-Cdg
Hyponatremia, B lymphocytopenia, Hypoalbuminemia, Hypocholesterolemia, Thrombocytopenia ORPHA:79324
Joubert Syndrome
Biparietal narrowing, Aplasia/Hypoplasia of the corpus callosum, Situs inversus totalis, Hydrocep... ORPHA:475
Walker-Warburg Syndrome
Abnormal cortical gyration, Agenesis of corpus callosum, Skeletal muscle atrophy, Muscular dystro... ORPHA:899
Bone Marrow Failure Syndrome 6
Neutropenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Congenital Fibrinogen Deficiency
Abnormal umbilical stump bleeding, Bruising susceptibility, Left ventricular hypertrophy, Subcuta... ORPHA:335
Acromelic Frontonasal Dysostosis
Agenesis of corpus callosum, Periventricular nodular heterotopia, Hypopituitarism, Gray matter he... OMIM:603671
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Agenesis of corpus callosum, Basal ganglia cysts, Arrhythmia, Elbow flexi... OMIM:608836
16P13.11 Microdeletion Syndrome
Agenesis of corpus callosum, Atrial septal defect, Microcephaly, Short stature, Ventricular septa... ORPHA:261236
Alkuraya-Kucinskas Syndrome
Plagiocephaly, Aplasia/Hypoplasia of the corpus callosum, Gray matter heterotopia, Lissencephaly,... OMIM:617822
Galloway-Mowat Syndrome
Intrauterine growth retardation, Micrognathia, Microcephaly, Short stature, Pachygyria, Camptodac... ORPHA:2065
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperkalemia, Hyponatremia ORPHA:90790
Thanatophoric Dysplasia Type 1
Patent ductus arteriosus, Atrial septal defect, Gray matter heterotopia, Cloverleaf skull, Fronta... ORPHA:1860
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal cortical gyration, Lissencephaly, Macrogyria, Exencephaly, Pachygyria, Large fontanelles... ORPHA:2211
Sheehan Syndrome
Normochromic anemia, Hyponatremia ORPHA:91355
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Leukocytosis, Hyperkalemia, Hypocalcemia, Hemolytic anemia, Thrombocytopenia ORPHA:544482
Osteopathia Striata-Cranial Sclerosis Syndrome
Cerebral calcification, Delayed eruption of teeth, Severe short stature, Facial palsy, Micrognath... ORPHA:2780
Congenital Factor X Deficiency
Abnormal umbilical stump bleeding, Bruising susceptibility, Epistaxis, Gastrointestinal hemorrhag... ORPHA:328
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Colpocephaly, Gray matter heterotopia, Simplified gyral pattern, Lis... OMIM:615219
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:163596
Vici Syndrome
Dilated cardiomyopathy, Agenesis of corpus callosum, Congestive heart failure, Schizencephaly, Gr... OMIM:242840
Japanese Encephalitis
Neutrophilia, Hyponatremia ORPHA:79139
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypernatremia OMIM:304800
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Agenesis of corpus callosum, Periventricular heterotopia, Dextrocardia, Frontal bossing, Atrioven... OMIM:618929
Tetrasomy 18P
Microcephaly, Syncope, Abnormality of neuronal migration ORPHA:3307
16Q24.3 Microdeletion Syndrome
Biparietal narrowing, Dilated cardiomyopathy, Colpocephaly, Periventricular heterotopia, Microgna... ORPHA:261250
Oculocerebrocutaneous Syndrome
Gray matter heterotopia, Agenesis of corpus callosum, Orbital encephalocele, Hypoplasia of the co... OMIM:164180
Orofaciodigital Syndrome I
Abnormal cortical gyration, Hypothalamic hamartoma, Cerebral atrophy, Myelomeningocele, Agenesis ... OMIM:311200
Pagod Syndrome
Arrhythmia, Sudden cardiac death, Situs inversus totalis, Congenital diaphragmatic hernia, Microc... ORPHA:991
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Severe short stature, Periventricular heterotopia, Microcephaly, Lissencephaly, Cortical dysplasi... ORPHA:468631
Neonatal Adrenoleukodystrophy
Dolichocephaly, Wide anterior fontanel, Short stature, Abnormality of neuronal migration ORPHA:44
Hypomelanosis Of Ito
Microcephaly, Cerebral atrophy, Gray matter heterotopia OMIM:300337
Primary Familial Polycythemia
Abnormal hemoglobin, Polycythemia ORPHA:90042
Familial Dysautonomia
Hyponatremia ORPHA:1764
Fragile X Syndrome
Periventricular heterotopia, Mitral valve prolapse, Mandibular prognathia OMIM:300624
Chiari Malformation Type Ii
Myelomeningocele, Agenesis of corpus callosum, Gray matter heterotopia, Limb muscle weakness, Spi... OMIM:207950
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyperkalemia, Abnormal circulating cholesterol concentration, Hyponatremia, Increased circulating... ORPHA:168558
Radio-Tartaglia Syndrome
Agenesis of corpus callosum, Gray matter heterotopia, Micrognathia, Microcephaly, Frontal bossing... OMIM:619312
Acute Intermittent Porphyria
Hyponatremia ORPHA:79276
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyperkalemia, Abnormal circulating cholesterol concentration, Hyponatremia, Increased circulating... ORPHA:289548
Orofaciodigital Syndrome Type 6
Biparietal narrowing, Hypothalamic hamartoma, Aplasia/Hypoplasia of the corpus callosum, Growth d... ORPHA:2754
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Van Maldergem Syndrome 1
Dental malocclusion, Periventricular nodular heterotopia, Growth delay, Gray matter heterotopia, ... OMIM:601390
Ritscher-Schinzel Syndrome 3
Periventricular nodular heterotopia, Micrognathia, Atrioventricular canal defect, Postnatal growt... OMIM:619135
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Prominent occiput, Tetralogy of Fallot, Flexion contracture, Intrauterine growth retardation, Age... OMIM:210710
Opitz-Kaveggia Syndrome
Plagiocephaly, Multiple joint contractures, Delayed closure of the anterior fontanelle, Gray matt... OMIM:305450
Fontaine Progeroid Syndrome
Periventricular heterotopia, Micrognathia, Microcephaly, Mandibular prognathia, Retrognathia, Dea... OMIM:612289
Beta-Thalassemia Intermedia
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Abnormality of iron homeostasis, Increased HbA2 h... ORPHA:231222
Holoprosencephaly
Hyponatremia, Abnormality of the spleen ORPHA:2162
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Plagiocephaly, Craniosynostosis, Intrauterine growth retardation, Atrioventricular canal defect, ... ORPHA:453499
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Left ventricular noncompaction, Pa... OMIM:619167
Peroxisome Biogenesis Disorder 1A (Zellweger)
Patent ductus arteriosus, Aplasia/Hypoplasia of the corpus callosum, Gray matter heterotopia, Mic... OMIM:214100
Oculocerebrorenal Syndrome Of Lowe
Hypokalemia, Hyponatremia, Hypercholesterolemia, Hypoammonemia, Anemia, Hypophosphatemia, Thrombo... ORPHA:534
Intellectual Developmental Disorder, X-Linked 12
Microcephaly, Short stature, Abnormality of neuronal migration, Abnormal cerebral white matter mo... OMIM:300957
Multiple Acyl-Coa Dehydrogenase Deficiency
Rhabdomyolysis, Arrhythmia, Congestive heart failure, Skeletal muscle atrophy, Gray matter hetero... ORPHA:26791
Leber Congenital Amaurosis
Abnormality of neuronal migration, Encephalocele ORPHA:65
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Cerebral atrophy, Facial hypotonia, Patent ductus arteriosus, Periventricular nodular heterotopia... OMIM:618659
Bartter Syndrome Type 4
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level, Hypomagnesemia ORPHA:89938
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Abnormal pulmonary valve morphology, Intrauterine growth retarda... ORPHA:500
Pyruvate Carboxylase Deficiency
Hypernatremia, Hypertaurinemia, Hyperlysinemia, Hyperprolinemia, Increased serum pyruvate, Elevat... ORPHA:3008
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Plagiocephaly, Congenital diaphragmatic hernia, Micrognathia, Multiple unerupted teeth, Abnormali... ORPHA:2063
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia OMIM:615508
Cystinosis, Nephropathic
Hypokalemia, Hyponatremia, Hypophosphatemic rickets, Decreased plasma carnitine, Splenomegaly, Hy... OMIM:219800
Hydrolethalus Syndrome 1
Abnormal cortical gyration, Complete atrioventricular canal defect, Severe hydrocephalus, Intraut... OMIM:236680
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia, Ventricular septal defect, Hydrocephalus OMIM:219730
Webb-Dattani Syndrome
Hypernatremia OMIM:615926
Koolen-De Vries Syndrome
Intrauterine growth retardation, Patent ductus arteriosus, Atrial septal defect, Gray matter hete... OMIM:610443
Van Maldergem Syndrome 2
Dental malocclusion, Periventricular nodular heterotopia, Gray matter heterotopia, Growth delay, ... OMIM:615546
Neurocutaneous Melanocytosis
Intracranial hemorrhage, Death in infancy, Meningocele, Abnormality of neuronal migration ORPHA:2481
6Q Terminal Deletion Syndrome
Plagiocephaly, Colpocephaly, Dolichocephaly, Prominent metopic ridge, Periventricular heterotopia... ORPHA:75857
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Intrauterine growth retardation, Aortic regurgitation, Patent ductus arteriosus, Posterior pituit... ORPHA:464311
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Increased serum bile acid concentration, Hepatosplenomegaly, Splenomegaly, Hyperspl... ORPHA:731
Nephrogenic Diabetes Insipidus
Hypernatremia ORPHA:223
Poretti-Boltshauser Syndrome
Abnormal periventricular white matter morphology, Gray matter heterotopia OMIM:615960
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Abnormal pulmonary valve morphology, Cranial asymmetry, Pulmonic stenosis ORPHA:137634
Joubert Syndrome With Oculorenal Defect
Biparietal narrowing, Aplasia/Hypoplasia of the corpus callosum, Hydrocephalus, Abnormality of ne... ORPHA:2318
Alg11-Cdg
Cerebral atrophy, Cerebral white matter atrophy, Gray matter heterotopia, Limb hypertonia, Microc... ORPHA:280071
Cerebral Palsy, Spastic Quadriplegic, 3
Microcephaly, Gray matter heterotopia OMIM:617008
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Cerebral atrophy, Hypoplasia of the corpus callosum, Gray matter heterotopia, Brachycephaly, Flat... OMIM:618797
Intellectual Developmental Disorder, Autosomal Dominant 64
Plagiocephaly, Periventricular nodular heterotopia, Growth delay, Micrognathia, Microcephaly, Pro... OMIM:619188
Bilateral Perisylvian Polymicrogyria
Perisylvian predominant thick cortex pachygyria, Distal arthrogryposis, Bilateral perisylvian pol... ORPHA:98889
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Meacham Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Aplasia of the right hemidia... OMIM:608978
Dominant Beta-Thalassemia
Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, Splenomega... ORPHA:231226
Beta-Thalassemia Major
Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Abnormalit... ORPHA:231214
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Lambdoidal craniosynostosis, Dental malocclusion, Craniosynostosis, Agenesis of corpus callosum, ... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Lambdoidal craniosynostosis, Dental malocclusion, Craniosynostosis, Agenesis of corpus callosum, ... ORPHA:352665
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Macrocytic anemia OMIM:612561
Orofaciodigital Syndrome Xiv
Trigonocephaly, Patent ductus arteriosus, Occipital encephalocele, Periventricular heterotopia, A... OMIM:615948
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Agenesis of corpus callosum, Periventricular heterotopia, Abnormal periventricular white matter m... OMIM:618476
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyperlipidemia, Hyponatremia ORPHA:293987
Man1B1-Cdg
Periventricular heterotopia, Frontal bossing, Dolichocephaly, Flat occiput ORPHA:397941
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperkalemia, Hyponatremia, Hypochloremia ORPHA:90794
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, HbH hemoglobin ORPHA:98791
Joubert Syndrome With Hepatic Defect
Biparietal narrowing, Portal hypertension, Aplasia/Hypoplasia of the corpus callosum, Occipital e... ORPHA:1454
Opitz gbbb syndrome, type II
Craniosynostosis, Agenesis of corpus callosum, Diastasis recti, Patent ductus arteriosus, Cavum s... OMIM:145410
Crimean-Congo Hemorrhagic Fever
Subconjunctival hemorrhage, Bundle branch block, Subdural hemorrhage, Hypertension, Hematemesis, ... ORPHA:99827
Rhabdoid Tumor
Hypertension, Internal hemorrhage ORPHA:69077
Acquired Purpura Fulminans
Macular purpura, Intracranial hemorrhage, Prolonged prothrombin time, Shock, Internal hemorrhage ORPHA:49566
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Overriding aorta, Tetralogy of Fallot, Microcephaly, Holoprosencephaly, Abnormality of neuronal m... ORPHA:3186
Joubert Syndrome 30
Gray matter heterotopia OMIM:617622
Aicardi Syndrome
Cavum septum pellucidum, Dilated third ventricle, Prominence of the premaxilla, Gray matter heter... OMIM:304050
Genitourinary And/Or Brain Malformation Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Acrania, Gray matter heter... OMIM:618820
Immunodeficiency 82 With Systemic Inflammation
T lymphocytopenia, Decreased proportion of naive T cells, Elevated circulating C-reactive protein... OMIM:619381
Neuromuscular Oculoauditory Syndrome
Agenesis of corpus callosum, Periventricular heterotopia, Muscle fiber necrosis, EMG: myopathic a... OMIM:618733
Orofaciodigital Syndrome Type 14
Patent ductus arteriosus, Periventricular heterotopia, Dilated third ventricle, Supernumerary too... ORPHA:434179
Cntnap2-Related Developmental And Epileptic Encephalopathy
Periventricular leukomalacia, Abnormality of neuronal migration ORPHA:163681
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Smith-Lemli-Opitz Syndrome
Hypoplasia of the corpus callosum, Intrauterine growth retardation, Patent ductus arteriosus, Per... OMIM:270400
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:141750
Genitopatellar Syndrome
Colpocephaly, Agenesis of corpus callosum, Delayed eruption of teeth, Periventricular heterotopia... OMIM:606170
Superficial Siderosis
Persistent bleeding after trauma, Abnormal corpus callosum morphology, Lower limb muscle weakness... ORPHA:247245
Hartsfield Syndrome
Hypernatremia OMIM:615465
Shwachman-Diamond Syndrome 1
Pancytopenia, Acute myeloid leukemia, Neutropenia, Anemia, Persistence of hemoglobin F, Thrombocy... OMIM:260400
Thymoma
Imbalanced hemoglobin synthesis, Leukemia, Aplastic anemia, Pure red cell aplasia ORPHA:99867
Blackfan-Diamond Anemia
Leukopenia, Thrombocytosis, Erythroid hypoplasia, Acute myeloid leukemia, Elevated red cell adeno... ORPHA:124
Periventricular Nodular Heterotopia 9
Prominent metopic ridge, Periventricular nodular heterotopia, Gray matter heterotopia, Microcepha... OMIM:618918
Nijmegen Breakage Syndrome
Rhabdomyosarcoma, Skeletal muscle atrophy, Microcephaly, Short stature, Retrognathia, Abnormality... ORPHA:647
Wiskott-Aldrich Syndrome
Hematochezia, Bruising susceptibility, Petechiae, Recurrent intrapulmonary hemorrhage, Arrhythmia... ORPHA:906
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Orofaciodigital Syndrome Xvi
Gray matter heterotopia, Retrognathia OMIM:617563
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:301040
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormal hemoglobin, Anemia ORPHA:847
Hemorrhagic Fever-Renal Syndrome
Subconjunctival hemorrhage, Petechiae, Ecchymosis, Shock, Hypotension, Capillary leak, Hypertensi... ORPHA:340
Marburg Hemorrhagic Fever
Subconjunctival hemorrhage, Bruising susceptibility, Petechiae, Hypovolemia, Shock, Hypotension, ... ORPHA:99826
Lead Poisoning
Imbalanced hemoglobin synthesis, Anemia, Increased LDL cholesterol concentration, Abnormal T cell... ORPHA:330015
Tuberous Sclerosis Complex
Cortical tubers, Cardiac rhabdomyoma, Hypertension, Pituitary adenoma, Cortical dysplasia, Noncom... ORPHA:805
Mismatch Repair Cancer Syndrome 1
Agenesis of corpus callosum, Rhabdomyosarcoma, Gray matter heterotopia OMIM:276300
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Hypoplastic anterior commissure, Abnormal corpus callosum morphology, Periventricular heterotopia... ORPHA:261552
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Abnormal corpus callosum morphology, Periventricular heterotopia, Abnormal hippocampus morphology... ORPHA:261537
Inhalational Anthrax
Hypotension, Internal hemorrhage ORPHA:247257
Mowat-Wilson Syndrome
Periventricular heterotopia, Abnormal hippocampus morphology, Microcephaly, Mandibular prognathia... ORPHA:2152
Hellp Syndrome
Cerebral hemorrhage, Prolonged prothrombin time, Hypotension, Internal hemorrhage ORPHA:244242
Proteus Syndrome
Craniosynostosis, Dolichocephaly, Pulmonary embolism, Carious teeth, Sudden cardiac death, Gray m... ORPHA:744
Arima Syndrome
Occipital meningocele, Gray matter heterotopia OMIM:243910
Yellow Fever
Reduced ejection fraction, Shock, Capillary leak, Excessive bleeding after a venipuncture, Intern... ORPHA:99829
Vascular Ehlers-Danlos Syndrome
Bruising susceptibility, Abnormal heart valve morphology, Carious teeth, Mitral valve prolapse, T... ORPHA:286
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Tetralogy of Fallot, Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Double... OMIM:618316

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 Tmem94

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 Tmem94.

No publications found that use IMPC mice or data for Tmem94.

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MGI Allele Allele Type Produced
Tmem94tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Tmem94tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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