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Gene: Tmem94 MGI:1919197

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Gene Summary

Name:
transmembrane protein 94
Synonyms:
2310067B10Rik

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased circulating sodium level Tmem94tm1a(EUCOMM)Wtsi HET Early adult 1.78×10-05
increased mean corpuscular hemoglobin concentration Tmem94tm1a(EUCOMM)Wtsi HET Early adult 4.05×10-06
abnormal tail movements Tmem94tm1a(EUCOMM)Wtsi HET   Early adult 5.49×10-05

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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
Ventricular septal defect, Anteverted nares, Parachute mitral valve, Prominent nose, Depressed na... 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
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia OMIM:143860
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Neutropenia OMIM:616949
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Intrauterine growth retarda... OMIM:615411
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Lissencephaly, X-Linked, 1
Death in infancy, Postnatal growth retardation, Gray matter heterotopia, Lissencephaly, Pachygyri... OMIM:300067
Lissencephaly Syndrome, Norman-Roberts Type
Microretrognathia, Wide nose, 4-layered lissencephaly, Patent foramen ovale, Wide nasal bridge, M... ORPHA:89844
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620126
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620125
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia ORPHA:46532
Sub-Cortical Nodular Heterotopia
Polymicrogyria, Subcortical heterotopia, Agenesis of corpus callosum, Abnormality of neuronal mig... ORPHA:101029
Lissencephaly 3
Periventricular laminar heterotopia, Pachygyria, Gray matter heterotopia, Lissencephaly, Polymicr... OMIM:611603
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Gray matter h... OMIM:604213
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Pancytopenia, Hypomagnesemia, Thrombocytopenia, Leukopenia, Hyperuricemia, Increase... OMIM:613845
Lissencephaly 1
Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria OMIM:607432
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:610600
Hypoadrenocorticism, Familial
Hyponatremia, Hyperkalemia OMIM:240200
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:203400
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... OMIM:300539
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Band Heterotopia
Hydrocephalus, Subcortical band heterotopia, Plagiocephaly, Gray matter heterotopia, Lateral vent... OMIM:600348
Maternal Hyperthermia-Induced Birth Defects
Intrauterine growth retardation, Short stature, Midface retrusion, Abnormality of neuronal migration ORPHA:2216
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia OMIM:300971
Congenital Hydrocephalus
Frontal bossing, Abnormal cortical gyration, Bulbous nose, Hydrocephalus, Abnormal heart morpholo... ORPHA:2185
Congenital Muscular Dystrophy, Fukuyama Type
Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Hydrocephalus, Dilated cardiomy... ORPHA:272
Microlissencephaly
Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa... ORPHA:1083
Bilateral Striopallidodentate Calcinosis
Intrauterine growth retardation, Abnormality of neuronal migration, Subcutaneous hemorrhage ORPHA:1980
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:177735
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... OMIM:206100
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Mandibular prognathia, Micrognathia, Bulbous nose, Simplified gyral pattern, Abnormality of neuro... OMIM:604317
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Hyperkalemia OMIM:264350
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Abnormality of neuronal migration OMIM:618709
Central Diabetes Insipidus
Hyponatremia ORPHA:178029
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:556037
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Gray matter heterotopia, Pachygyria, Agyria ORPHA:1084
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia ORPHA:846
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ventricular septal defect, Abnormality of neuronal migration, Decreased calvarial ossification, H... ORPHA:2772
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Abnormal erythrocyte enzyme level, Abnormal circulating porphyrin concentration, My... ORPHA:100924
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, T... OMIM:603553
Congenital Isolated Acth Deficiency
Hyponatremia, Hyperkalemia ORPHA:199296
Global Developmental Delay With Or Without Impaired Intellectual Development
Frontal bossing, Ventricular septal defect, Short stature, Patent ductus arteriosus, Bulbous nose... OMIM:618330
Hereditary Coproporphyria
Hyponatremia, Abnormal circulating porphyrin concentration, Anemia ORPHA:79273
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Short stature, Micrognathia, Prominent nose, Periventricular heterotopia, Partial agenesis of the... OMIM:616171
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e... OMIM:619897
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:556030
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Posttransplant Acute Limbic Encephalitis
Hyponatremia ORPHA:163921
Thanatophoric Dysplasia Type 2
Encephalocele, Frontal bossing, Cloverleaf skull, Short stature, Depressed nasal bridge, Patent d... ORPHA:93274
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Periventricular heterotopia OMIM:608097
Hyperkalemic Periodic Paralysis
Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration ORPHA:682
Thanatophoric Dysplasia
Frontal bossing, Cloverleaf skull, Depressed nasal bridge, Patent ductus arteriosus, Hydrocephalu... ORPHA:2655
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Hyperkalemia OMIM:614736
Herpes Simplex Virus Encephalitis
Hyponatremia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration ORPHA:1930
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia, Agenesis of corpus callosum OMIM:619101
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia ORPHA:91354
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
3C Syndrome
Frontal bossing, Death in infancy, Ventricular septal defect, Abnormal mitral valve morphology, S... ORPHA:7
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... ORPHA:232
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Snakebite Envenomation
Hyponatremia, Thrombocytopenia ORPHA:449285
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Ventricular septal defect, Hypoplastic right heart, Depressed nasal bridge, Micrognathia, Patent ... OMIM:618142
Alg8-Cdg
Hyponatremia, Thrombocytopenia, Anemia ORPHA:79325
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Leukocytosis, Thrombocytopenia ORPHA:83601
Colchicine Poisoning
Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo... ORPHA:31824
Wolcott-Rallison Syndrome
Hyponatremia, Hyperammonemia, Iron deficiency anemia, Hypoalbuminemia, Lymphocytosis, Hyperbiliru... ORPHA:1667
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Short stature, Facial palsy, Pachygyria, Achilles tendon contracture, Elbow flexion contracture, ... OMIM:608840
Periventricular Nodular Heterotopia 7
Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricul... OMIM:617201
Desmosterolosis
Frontal bossing, Severe short stature, Depressed nasal bridge, Abnormal cortical gyration, Microg... ORPHA:35107
Acalvaria
Spina bifida, Hydrocephalus, Abnormality of neuronal migration, Holoprosencephaly, Calvarial skul... ORPHA:945
Mirage Syndrome
Hyponatremia, Thrombocytopenia, Hyperkalemia, Leukopenia, Hypoplastic spleen, Lymphopenia, Anemia OMIM:617053
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:171876
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia OMIM:214700
Congenital Muscular Dystrophy Without Intellectual Disability
Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle, Achilles tendon co... ORPHA:370980
Generalized Pustular Psoriasis
Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... ORPHA:247353
Familial Pseudohyperkalemia
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... ORPHA:90044
Lissencephaly 6 With Microcephaly
Anteverted nares, Periventricular heterotopia, Bulbous nose, Partial agenesis of the corpus callo... OMIM:616212
Microphthalmia, Syndromic 12
Ventricular septal defect, Congenital diaphragmatic hernia, Broad nasal tip, Micrognathia, Hypopl... OMIM:615524
Periventricular Nodular Heterotopia 1
Bicuspid aortic valve, Cerebral hemorrhage, Patent ductus arteriosus, Abnormality of neuronal mig... OMIM:300049
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Frontal bossing, Bulbous nose, Hydrocephalus, Simplified gyral patte... OMIM:615219
Intellectual Developmental Disorder, Autosomal Dominant 70
Hyponatremia OMIM:620157
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Depressed nasal bridge, Micrognathia, Hydrocephalus, Double outlet rig... OMIM:220210
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc... ORPHA:90038
Necrotizing Enterocolitis
Hyponatremia, Leukocytosis, Thrombocytopenia, Neutropenia ORPHA:391673
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Wide nose, Ventricular septal defect, Short stature, Depressed nasal bridge, Broad nasal tip, Lon... OMIM:619995
Late-Onset Isolated Acth Deficiency
Hyponatremia, Normocytic anemia, Macrocytic anemia, Hypercalcemia, Eosinophilia, Hyperkalemia, Hy... ORPHA:199299
Renal Hypoplasia, Bilateral
Hyponatremia, Hyperkalemia, Anemia ORPHA:97362
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus, Gray matter heterotopia, Dysgyria, Type II lissencephaly ORPHA:352682
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp... ORPHA:94093
Aica-Ribosuria Due To Atic Deficiency
Hyponatremia OMIM:608688
Craniofacial Dyssynostosis With Short Stature
Frontal bossing, Ventricular septal defect, Short stature, Patent ductus arteriosus, Hydrocephalu... OMIM:218350
Fetal Trimethadione Syndrome
Ventricular septal defect, Depressed nasal bridge, Micrognathia, Brachycephaly, Transposition of ... ORPHA:1913
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Abnormality of iron homeo... ORPHA:848
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Microretrognathia, Frontal bossing, Scapular winging, Tricuspid regurgitation, Ventricular septal... OMIM:618870
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Gray matter heterotopia, Lateral ventricle dilatation, Lissencephaly,... ORPHA:300573
Porphyria Variegata
Hyponatremia, Abnormal circulating porphyrin concentration, Anemia ORPHA:79473
Symmetrical Thalamic Calcifications
Arrhythmia, Abnormality of neuronal migration ORPHA:1314
Congenital Muscular Dystrophy With Cerebellar Involvement
Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Occipital encephalocele, ... ORPHA:370959
Autosomal Recessive Primary Microcephaly
Short stature, Growth delay, Gray matter heterotopia, Pachygyria, Agenesis of corpus callosum ORPHA:2512
Li-Ghorbani-Weisz-Hubshman Syndrome
Ventricular septal defect, Prominent nasal bridge, Depressed nasal bridge, Periventricular hetero... OMIM:618974
Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:427
Edinburgh Malformation Syndrome
Frontal bossing, Anteverted nares, Choanal atresia, Micrognathia, Hydrocephalus, Abnormality of n... ORPHA:1895
Chédiak-Higashi Syndrome
Hyponatremia, Abnormal leukocyte morphology, Pancytopenia, Hypertriglyceridemia, Increased circul... ORPHA:167
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Frontal bossing, Death in infancy, Subcortical heterotopia, Agyria, Pachygyria, Pa... OMIM:614643
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia OMIM:613090
Whipple Disease
Hyponatremia, Splenomegaly, Anemia ORPHA:3452
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Cholera
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration ORPHA:173
Legionnaires Disease
Hyponatremia, Splenomegaly, Lymphopenia ORPHA:549
Subependymal Nodular Heterotopia
Occipital encephalocele, Partial agenesis of the corpus callosum, Meningocele, Myelomeningocele, ... ORPHA:101030
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Secundum atrial septal defect, Patent ductus arteriosus, Gray matter heterot... OMIM:617397
Adrenal Hypoplasia, Congenital
Hyponatremia OMIM:300200
Lissencephaly 5
Occipital encephalocele, Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Ty... OMIM:615191
Hemimegalencephaly
Gray matter heterotopia, Pachygyria, Cranial asymmetry, Polymicrogyria ORPHA:99802
16P13.11 Microdeletion Syndrome
Ventricular septal defect, Camptodactyly of finger, Short stature, Anteverted nares, Depressed na... ORPHA:261236
Brain Small Vessel Disease 2
Intracranial hemorrhage, Growth delay, Polymicrogyria, Subcortical heterotopia OMIM:614483
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia OMIM:618183
Acute Adrenal Insufficiency
Hyponatremia, Normocytic anemia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, ... ORPHA:95409
Shigellosis
Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Microangiopathic hemolytic anemia, ... ORPHA:810
Adenohypophysitis
Hyponatremia, Normochromic anemia ORPHA:95512
Periventricular Nodular Heterotopia
Aortic regurgitation, Abnormal bleeding, Abnormal heart valve morphology, Periventricular heterot... ORPHA:98892
Infant Botulism
Hyponatremia ORPHA:178478
Vici Syndrome
Death in infancy, Short stature, Depressed nasal tip, Cardiomyopathy, Gray matter heterotopia, Ag... ORPHA:1493
Afibrinogenemia, Congenital
Abnormal bleeding, Death in infancy, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleed... OMIM:202400
Joubert Syndrome
Encephalocele, Anteverted nares, Prominent nasal bridge, Situs inversus totalis, Hydrocephalus, A... ORPHA:475
Holoprosencephaly 14
Frontal bossing, Ventricular septal defect, Anteverted nares, Proboscis, Alobar holoprosencephaly... OMIM:619895
Panhypophysitis
Hyponatremia, Normochromic anemia ORPHA:95513
9Q21.13 Microdeletion Syndrome
Wide nasal ridge, Craniosynostosis, Postnatal growth retardation, Abnormal heart morphology, Gray... ORPHA:531151
Coffin-Lowry Syndrome
Delayed eruption of teeth, Skeletal muscle atrophy, Frontal bossing, Craniofacial hyperostosis, S... ORPHA:192
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Splenomegaly, Hypokalemia, Hypocalcemia OMIM:617913
Miller-Dieker Lissencephaly Syndrome
Delayed eruption of teeth, Frontal bossing, Anteverted nares, Micrognathia, Pachygyria, Wide nasa... OMIM:247200
Alkuraya-Kucinskas Syndrome
Anteverted nares, Depressed nasal bridge, Micrognathia, Pericardial effusion, Hydrocephalus, Plag... OMIM:617822
Congenital Fibrinogen Deficiency
Abnormal bleeding, Tachycardia, Internal hemorrhage, Prolonged prothrombin time, Gingival bleedin... ORPHA:335
Alg12-Cdg
Hyponatremia, B lymphocytopenia, Hypoalbuminemia, Hypocholesterolemia, Thrombocytopenia ORPHA:79324
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:90791
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... ORPHA:411634
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplenism, Vacuolated lymphocytes... ORPHA:275761
Pituitary Apoplexy
Hyponatremia, Normochromic anemia ORPHA:95613
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia OMIM:618849
Thanatophoric Dysplasia Type 1
Frontal bossing, Cloverleaf skull, Depressed nasal bridge, Patent ductus arteriosus, Hydrocephalu... ORPHA:1860
Bohring-Opitz Syndrome
Ventricular septal defect, Short stature, Trigonocephaly, Mesomelic/rhizomelic limb shortening, M... OMIM:605039
Rabin-Pappas Syndrome
Hyponatremia OMIM:620155
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Familial Glucocorticoid Deficiency
Hyponatremia, Hyperkalemia ORPHA:361
Neonatal Adrenoleukodystrophy
Anteverted nares, Short stature, Wide nasal bridge, Abnormality of neuronal migration, Dolichocep... ORPHA:44
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Anteverted nares, Short stature, Wide nasal bridge, Abnormality of neuronal migration, Biparietal... ORPHA:2518
Neu-Laxova Syndrome
Skeletal muscle atrophy, Abnormal cortical gyration, Spina bifida, Micrognathia, Pachygyria, Tris... ORPHA:2671
Radio-Tartaglia Syndrome
Frontal bossing, Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Micrognathi... OMIM:619312
Carnitine Palmitoyltransferase Ii Deficiency
Hydrocephalus, Rhabdomyolysis, Abnormality of neuronal migration, Cardiomyopathy, Myopathy, Arrhy... ORPHA:157
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Hyperkalemia, Abnormal lymph... ORPHA:293978
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Death in infancy, Cardiomegaly, Bulbous nose, Dilated cardiomyopathy, Increased muscle lipid cont... OMIM:608836
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Short stature, Depressed nasal bridge, Micrognathia, Periventricular heterotopia, Hydrocephalus, ... OMIM:619833
Addison Disease
Hyponatremia, Normocytic anemia, Hypercalcemia, Thiamine-responsive megaloblastic anemia, Hyperka... ORPHA:85138
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoornithinemia, Hype... OMIM:615751
Cerebrofacioarticular Syndrome
Short stature, Micrognathia, Hypoplasia of the maxilla, Dysplastic corpus callosum, Bilateral cho... ORPHA:314679
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... ORPHA:328
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Peroxisome Biogenesis Disorder 12A (Zellweger)
Prominence of the premaxilla, Short stature, Prominent nose, Patent ductus arteriosus, Scaphoceph... OMIM:614886
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Prolonged bleeding time, Pulmonary embolism, Congestive heart failur... ORPHA:90308
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Frontal bossing, Tricuspid regurgitation, Depressed nasal bridge, Dextrocardia, Periventricular h... OMIM:618929
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia ORPHA:163596
Pyruvate Dehydrogenase E1-Beta Deficiency
Periventricular heterotopia, Abnormal calvaria morphology, Intrauterine growth retardation, Pachy... ORPHA:255138
Oculocerebrocutaneous Syndrome
Gray matter heterotopia, Orbital encephalocele, Cleft ala nasi, Agenesis of corpus callosum OMIM:164180
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Hyperkalemia ORPHA:90790
Walker-Warburg Syndrome
Skeletal muscle atrophy, Abnormal cortical gyration, Hydrocephalus, Abnormality of neuronal migra... ORPHA:899
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cardiomegaly, Heart block, Hydrocephalus, Abnormality of neuronal migration, Cardiomyopathy, Abno... ORPHA:228308
Thanatophoric Dysplasia, Type I
Frontal bossing, Cloverleaf skull, Hydrocephalus, Gray matter heterotopia, Disproportionate short... OMIM:187600
Developmental Delay With Variable Neurologic And Brain Abnormalities
Wide nose, Anteverted nares, Micrognathia, Knee flexion contracture, Gray matter heterotopia, Cam... OMIM:619694
Japanese Encephalitis
Hyponatremia, Neutrophilia ORPHA:79139
Sheehan Syndrome
Hyponatremia, Normochromic anemia ORPHA:91355
Glutathionuria
Gray matter heterotopia, Agenesis of corpus callosum OMIM:231950
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Flat occiput, Abnormal cortical gyration, Depressed nasal ridge, Brachycephaly, Wi... ORPHA:2211
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hemolytic anemia, Leukocytosis, Hyperkalemia, Hypocalcemia, Thrombocytopenia ORPHA:544482
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Frontal bossing, Anteverted nares, Depressed nasal bridge, Periventricular heterotopia, Bulbous n... OMIM:614105
Galloway-Mowat Syndrome
Short stature, Camptodactyly of finger, Micrognathia, Aqueductal stenosis, Abnormality of neurona... ORPHA:2065
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypernatremia OMIM:304800
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Short stature, Abnormality of neuronal migration ORPHA:2204
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Gray matter heterotopia, Limb... OMIM:207950
16Q24.3 Microdeletion Syndrome
Frontal bossing, Ventricular septal defect, Anteverted nares, Micrognathia, Periventricular heter... ORPHA:261250
Combined Oxidative Phosphorylation Deficiency 3
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperammonemia OMIM:610505
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... ORPHA:231222
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia OMIM:602522
Fragile X Syndrome
Mandibular prognathia, Periventricular heterotopia, Mitral valve prolapse OMIM:300624
Peroxisome Biogenesis Disorder 13A (Zellweger)
Flat occiput, Depressed nasal bridge, Micrognathia, Wide nasal bridge, Gray matter heterotopia, D... OMIM:614887
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Familial Dysautonomia
Hyponatremia ORPHA:1764
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Micrognathia, Prominent nose, Partial agenesis of the corpus callosum, Flexion contracture, Micro... OMIM:210710
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyponatremia, Hyperkalemia OMIM:201810
Tetrasomy 18P
Short nose, Syncope, Abnormality of neuronal migration ORPHA:3307
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level, Abnormal circulating cholesterol c... ORPHA:168558
Opitz-Kaveggia Syndrome
Frontal bossing, Multiple joint contractures, Short stature, Choanal atresia, Micrognathia, Promi... OMIM:305450
Orofaciodigital Syndrome I
Microretrognathia, Frontal bossing, Short stature, Abnormal cortical gyration, Underdeveloped nas... OMIM:311200
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level, Abnormal circulating cholesterol c... ORPHA:289548
Fontaine Progeroid Syndrome
Mandibular prognathia, Bicuspid aortic valve, Micrognathia, Hypoplasia of the abdominal wall musc... OMIM:612289
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hypoammonemia, Anemia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia, Thrombo... ORPHA:534
Bartter Syndrome Type 4
Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Hypomagnesemia ORPHA:89938
Multiple Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Scapular winging, Depressed nasal bridge, Congestive heart failure, Rhab... ORPHA:26791
Acute Intermittent Porphyria
Hyponatremia ORPHA:79276
Cystinosis, Nephropathic
Hyponatremia, Splenomegaly, Reduced blood urea nitrogen, Hypophosphatemia, Hypokalemia, Hypomagne... OMIM:219800
Holoprosencephaly
Flat occiput, Congenital diaphragmatic hernia, Depressed nasal ridge, Absent nares, Holoprosencep... ORPHA:2162
Leber Congenital Amaurosis
Encephalocele, Abnormality of neuronal migration ORPHA:65
Pagod Syndrome
Encephalocele, Death in infancy, Short stature, Sudden cardiac death, Congenital diaphragmatic he... ORPHA:991
Orofaciodigital Syndrome Type 6
Frontal bossing, Short stature, Prominent nasal bridge, Micrognathia, Broad nasal tip, Abnormalit... ORPHA:2754
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Ventricular septal defect, Bicuspid aortic valve, Craniosynostosis, Underdeveloped nasal alae, Wi... ORPHA:453499
Chondrodysplasia Punctata, Autosomal Dominant
Hip contracture, Frontal bossing, Hypoplasia of the nasal bone, Moderate postnatal growth retarda... OMIM:118650
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Frontal polymicrogyria, Ventricular septal defect, Short stature, Patent ductus arteriosus, Coron... OMIM:620024
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Hyperammonemia, Hyperprolinemia, H... ORPHA:3008
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Congenital diaphragmatic hernia, Micrognathia, Abnormality of neuronal migration, Plagiocephaly, ... ORPHA:2063
Man1B1-Cdg
Frontal bossing, Wide nose, Flat occiput, Prominent nose, Periventricular heterotopia, Wide nasal... ORPHA:397941
Neurocutaneous Melanocytosis
Intracranial hemorrhage, Death in infancy, Meningocele, Abnormality of neuronal migration ORPHA:2481
Joubert Syndrome With Oculorenal Defect
Encephalocele, Anteverted nares, Prominent nasal bridge, Hydrocephalus, Abnormality of neuronal m... ORPHA:2318
Hydrolethalus Syndrome 1
Ventricular septal defect, Abnormal cortical gyration, Micrognathia, Complete atrioventricular ca... OMIM:236680
Ritscher-Schinzel Syndrome 3
Death in infancy, Anteverted nares, Periventricular nodular heterotopia, Micrognathia, Postnatal ... OMIM:619135
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Hypokalemia OMIM:618426
Koolen-De Vries Syndrome
Ventricular septal defect, Bicuspid aortic valve, Short stature, Prominent nasal bridge, Patent d... OMIM:610443
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Micrognathia, Patent ductus... ORPHA:555877
Mitochondrial Complex I Deficiency, Nuclear Type 32
Hyponatremia OMIM:618252
Liver Disease, Severe Congenital
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti... OMIM:619991
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia, Hydrocephalus, Ventricular septal defect OMIM:219730
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Microretrognathia, Multiple joint contractures, Severe short stature, Camptodactyly of finger, An... ORPHA:468631
Van Maldergem Syndrome 1
Micrognathia, Hypoplasia of the maxilla, Subcortical band heterotopia, Dental malocclusion, Wide ... OMIM:601390
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Hypoalbuminemia OMIM:615508
Nephrogenic Diabetes Insipidus
Hypernatremia ORPHA:223
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Hypersplenism, Splenomegaly, Hepatosplenomegaly, Increased serum bile acid concentr... ORPHA:731
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Short stature, Simplified gyral pattern, Periventricular heterotopia OMIM:618273
Vici Syndrome
Wide nose, Depressed nasal bridge, Micrognathia, Postnatal growth retardation, Congestive heart f... OMIM:242840
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Frontal bossing, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Gray matter... OMIM:608624
Webb-Dattani Syndrome
Hypernatremia OMIM:615926
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Meacham Syndrome
Death in infancy, Stillbirth, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Apl... OMIM:608978
Acromelic Frontonasal Dysostosis
Encephalocele, Broad nasal tip, Parietal foramina, Bifid nasal tip, Wide nasal bridge, Brachyceph... OMIM:603671
Peroxisome Biogenesis Disorder 1A (Zellweger)
Flat occiput, Ventricular septal defect, Anteverted nares, Micrognathia, Patent ductus arteriosus... OMIM:214100
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:612561
Beta-Thalassemia Major
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... ORPHA:231214
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Congenital Disorder Of Deglycosylation 2
Micrognathia, Partial agenesis of the corpus callosum, Macroglossia, Gray matter heterotopia, Sho... OMIM:619775
Sponastrime Dysplasia
Mandibular prognathia, Frontal bossing, Obtuse angle of mandible, Aplasia of the nasal bone, Rhiz... ORPHA:93357
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Flat occiput, Depressed nasal bridge, Anteverted nares, Brachycephaly, Gray matter heterotopia OMIM:618797
Isolated Arrhinia
Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ... ORPHA:1134
Holoprosencephaly 7
Flat occiput, Alobar holoprosencephaly, Partial agenesis of the corpus callosum, Hypoplastic nasa... OMIM:610828
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Ventricular septal defect, Bicuspid aortic valve, Sagittal craniosynostosis, Craniosynostosis, Un... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Ventricular septal defect, Bicuspid aortic valve, Sagittal craniosynostosis, Craniosynostosis, Un... ORPHA:352665
Intellectual Developmental Disorder, X-Linked 12
Short stature, Abnormality of neuronal migration OMIM:300957
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic regurgitation, Ventricular septal defect, Prominent nasal bridge, Ankle flexion contractur... ORPHA:464311
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Hyperlipidemia, Hyperkalemia ORPHA:293987
Hypomelanosis Of Ito
Gray matter heterotopia OMIM:300337
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Anteverted nares, Prominent nasal bridge, Portal hypertension, Hydroceph... ORPHA:1454
Bilateral Perisylvian Polymicrogyria
Choanal atresia, Weakness of facial musculature, Micrognathia, Flexion contracture, Perisylvian p... ORPHA:98889
6Q Terminal Deletion Syndrome
Micrognathia, Periventricular heterotopia, Abnormality of neuronal migration, Plagiocephaly, Gray... ORPHA:75857
Orofaciodigital Syndrome Xiv
Microretrognathia, Natal tooth, Occipital encephalocele, Ventricular septal defect, Trigonocephal... OMIM:615948
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyponatremia, Hyperkalemia, Hypochloremia ORPHA:90794
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Van Maldergem Syndrome 2
Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Subcortical band heterotopia, De... OMIM:615546
Acquired Purpura Fulminans
Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage ORPHA:49566
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Spl... OMIM:619381
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia OMIM:617008
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Ecchymosis, Internal hemorrhage, Pericar... ORPHA:99827
Usher Syndrome, Type Ig
Hypoplasia of the nasal bone OMIM:606943
Rhabdoid Tumor
Hypertension, Internal hemorrhage ORPHA:69077
Poretti-Boltshauser Syndrome
Gray matter heterotopia OMIM:615960
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Overriding aorta, Abnormality of neuronal migration, Holoprosencephaly, Aplasia of the nose, Tetr... ORPHA:3186
Joubert Syndrome 30
Gray matter heterotopia OMIM:617622
Genitourinary And/Or Brain Malformation Syndrome
Aplasia of the nasal bone, Acrania, Micrognathia, Dysplastic corpus callosum, Gray matter heterot... OMIM:618820
Smith-Lemli-Opitz Syndrome
Microretrognathia, Death in infancy, Ventricular septal defect, Short stature, Anteverted nares, ... OMIM:270400
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Bulbous nose, Agenesis of corpus callosum, Hydrocephalus, Periventricular heterotopia OMIM:618476
Neuromuscular Oculoauditory Syndrome
Periventricular heterotopia, Knee flexion contracture, Wrist flexion contracture, Calf muscle hyp... OMIM:618733
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyponatremia, Hyperkalemia, Decreased circulating renin level OMIM:201750
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Alg11-Cdg
Gray matter heterotopia, Retrognathia, Limb hypertonia ORPHA:280071
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin ORPHA:423479
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... OMIM:617052
Lead Poisoning
Decreased HDL cholesterol concentration, Imbalanced hemoglobin synthesis, Abnormal T cell morphol... ORPHA:330015
Aicardi Syndrome
Prominence of the premaxilla, Anteverted nares, Spina bifida, Postnatal growth retardation, Parti... OMIM:304050
Genitopatellar Syndrome
Delayed eruption of teeth, Hip contracture, Wide nose, Ventricular septal defect, Prominent nasal... OMIM:606170
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... OMIM:260400
Diamond-Blackfan Anemia
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... ORPHA:124
Orofaciodigital Syndrome Xvi
Gray matter heterotopia, Retrognathia, Depressed nasal bridge OMIM:617563
Superficial Siderosis
Abnormal bleeding, Subarachnoid hemorrhage, Partial anosmia, Internal hemorrhage, Anosmia, Lower ... ORPHA:247245
Wiskott-Aldrich Syndrome
Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, He... ORPHA:906
Orofaciodigital Syndrome Type 14
Microretrognathia, Ventricular septal defect, Periventricular heterotopia, Patent ductus arterios... ORPHA:434179
Nijmegen Breakage Syndrome
Skeletal muscle atrophy, Depressed nasal bridge, Short stature, Rhabdomyosarcoma, Prominent nose,... ORPHA:647
Thymoma
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis ORPHA:99867
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Hemorrhagic Fever-Renal Syndrome
Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Melena, Hype... ORPHA:340
Hartsfield Syndrome
Hypernatremia OMIM:615465
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Hydrocephalus, Anencephaly, Gray matter het... OMIM:615287
Marburg Hemorrhagic Fever
Abnormal bleeding, Shock, Tachycardia, Pericarditis, Excessive bleeding after a venipuncture, Hyp... ORPHA:99826
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormal hemoglobin, Anemia ORPHA:847
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormality of neuronal migration ORPHA:163681
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:301040
Mismatch Repair Cancer Syndrome 1
Gray matter heterotopia, Agenesis of corpus callosum, Rhabdomyosarcoma OMIM:276300
Inhalational Anthrax
Internal hemorrhage, Hypotension ORPHA:247257
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... OMIM:105650
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Mandibular prognathia, Bicuspid aortic valve, Flexion contracture, Agenesis of corpus callosum, S... ORPHA:261552
Tuberous Sclerosis Complex
Noncommunicating hydrocephalus, Hypertension, Internal hemorrhage, Cardiac rhabdomyoma ORPHA:805
Arima Syndrome
Growth delay, Hypertension, Occipital meningocele, Gray matter heterotopia OMIM:243910
Mowat-Wilson Syndrome
Mandibular prognathia, Bicuspid aortic valve, Flexion contracture, Agenesis of corpus callosum, B... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Mandibular prognathia, Delayed eruption of teeth, Bicuspid aortic valve, Abnormal pulmonary valve... ORPHA:261537
Proteus Syndrome
Decreased muscle mass, Anteverted nares, Abnormal dental enamel morphology, Sudden cardiac death,... ORPHA:744
Hellp Syndrome
Prolonged prothrombin time, Cerebral hemorrhage, Internal hemorrhage, Hypotension ORPHA:244242
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Ventricular septal defect, Anteverted nares, Parachute mitral valve, Prominent nose, Depressed na... OMIM:618316
Yellow Fever
Abnormal bleeding, Shock, Supraventricular arrhythmia, Excessive bleeding after a venipuncture, H... ORPHA:99829
Vascular Ehlers-Danlos Syndrome
Abnormal bleeding, Narrow nasal bridge, Telangiectasia of the skin, Transient ischemic attack, Ab... ORPHA:286
Periventricular Nodular Heterotopia 9
Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria OMIM:618918

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.

Order Mouse and ES Cells

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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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