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Gene: Med31 MGI:1914529

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
mediator complex subunit 31
Synonyms:
l11Jus15,  3110004H13Rik

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.

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 Med31 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Med31 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Preeclampsia/Eclampsia 1
Intrauterine growth retardation, Edema OMIM:189800
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida, Macrocephaly ORPHA:1931
Aplasia Cutis Congenita
Finger syndactyly, Toe syndactyly, Skin ulcer, Spinal dysraphism, Abnormality of bone mineral den... ORPHA:1114
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor, Abnormal bone structure ORPHA:46532
Fountain Syndrome
Metaphyseal dysplasia, Brachydactyly, Coarse metaphyseal trabecularization, Craniofacial hyperost... ORPHA:3219
Nevus Comedonicus Syndrome
Finger syndactyly, Toe syndactyly, Spina bifida, Microcephaly, Preaxial polydactyly, Spina bifida... ORPHA:64754
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Joint contracture of the hand, Talipes equinovarus, Spina bifida, Camptodactyly OMIM:211960
Camptodactyly Syndrome, Guadalajara Type 1
Hallux valgus, Brachydactyly, Toe syndactyly, Short stature, Camptodactyly of finger, Spina bifid... ORPHA:1327
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Osteoporosis, Pallor, Short stature ORPHA:2786
Acalvaria
Holoprosencephaly, Postaxial hand polydactyly, Hydrocephalus, Spina bifida ORPHA:945
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Acropectorovertebral Dysplasia
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, Triphalangeal thumb,... ORPHA:957
Isolated Klippel-Feil Syndrome
Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Abnormal rib morphol... ORPHA:2345
Schisis Association
Encephalocele, Spina bifida, Microcephaly, Micromelia, Anencephaly ORPHA:63862
Congenital Heart Block
Pericardial effusion, Hydrops fetalis, Peripheral edema, Pallor, Intrauterine growth retardation,... ORPHA:60041
Ulnar Hemimelia
Limited elbow movement, Osteoarthritis, Abnormal calcification of the carpal bones, Aplasia of th... ORPHA:93320
Fibular Hemimelia
Bowing of the legs, Tibial bowing, Foot oligodactyly, Abnormal bone ossification, Short tibia, Jo... ORPHA:93323
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Peripheral Cone Dystrophy
Pallor OMIM:609021
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... OMIM:618773
Neu-Laxova Syndrome 2
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Edema, Polyhydramnios, Micro... OMIM:616038
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Short stature, Micromelia, Mic... ORPHA:1908
Myopathic Ehlers-Danlos Syndrome
Multiple joint contractures, Foot joint contracture, Shoulder flexion contracture, Ankle flexion ... ORPHA:536516
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Mosaic Trisomy 9
Rocker bottom foot, Spina bifida, Micromelia, Camptodactyly of finger, Polyhydramnios, Microcepha... ORPHA:99776
Cerebrocostomandibular Syndrome
Short stature, Spina bifida, Tracheomalacia, Microcephaly, Myelomeningocele, Meningocele, Posteri... ORPHA:1393
Neu-Laxova Syndrome
Osteopenia, Osteomalacia, Spina bifida, Micromelia, Polyhydramnios, Microcephaly, Flexion contrac... ORPHA:2671
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Aplasia/Hypoplasia of the radius, Anencephaly, Spina bifida ORPHA:2476
Optic Atrophy 1
Pallor OMIM:165500
Pelvis-Shoulder Dysplasia
Syndactyly, Aplasia/Hypoplasia of the ribs, Short stature, Camptodactyly of finger, Spina bifida,... ORPHA:2839
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Narrow femoral neck, Joint laxity, Short stature, Long proximal phalanx of finger, Delayed phalan... OMIM:603546
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology, Pallor OMIM:606353
Hb Bart'S Hydrops Fetalis
Polyhydramnios, Hydrocephalus, Hydrops fetalis, Pallor, Oligohydramnios ORPHA:163596
Achondrogenesis, Type Ib
Polyhydramnios, Micromelia, Edema, Hydrops fetalis, Stillbirth, Short ribs, Absent or minimally o... OMIM:600972
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Syringomyelia OMIM:207950
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism, Bifid sternum ORPHA:63260
Amish Lethal Microcephaly
Spina bifida, Microcephaly, Limitation of joint mobility, Osteoporosis, Decreased skull ossification ORPHA:99742
Caudal Duplication
Myelomeningocele, Spinal cord lesion, Spina bifida ORPHA:1756
Dermatitis, Atopic
Dry skin, Pallor, Facial erythema OMIM:603165
Czeizel-Losonci Syndrome
Hitchhiker thumb, Spina bifida, Myelomeningocele, Hydrocephalus, 2-3 finger syndactyly, Clubbing ... ORPHA:2437
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Proximal placement of thumb, Spina bifida, Abnormal thumb morphology, Short thumb, Preaxial hand ... ORPHA:1120
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Chromosome 17P13.1 Deletion Syndrome
Hallux valgus, Joint laxity, Arachnodactyly, Broad hallux, Proximal placement of thumb, Spina bif... OMIM:613776
Cyclic Vomiting Syndrome
Growth delay, Pallor, Microcephaly OMIM:500007
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Short metacarpal, Polyhydramnios, Microcephaly, Facial edema, Atrophy of the spinal cord, Abnorma... ORPHA:86822
Campomelic Dysplasia
Anterior tibial bowing, Polyhydramnios, Delayed epiphyseal ossification, Patellar hypoplasia, Fem... OMIM:114290
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Growth delay, Pallor OMIM:613561
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Trisomy 18
Short stature, Camptodactyly of finger, Spina bifida, Microcephaly, Postaxial hand polydactyly, A... ORPHA:3380
Fanconi Anemia, Complementation Group I
Short stature, Absent thumb, Microcephaly, Short thumb, Hypoplasia of the radius, Fused cervical ... OMIM:609053
Iniencephaly
Encephalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Polyhydramnios, Myelomeningocele, Hy... ORPHA:63259
Ollier Disease
Micromelia, Joint stiffness, Abnormal cartilage morphology, Osteolysis, Skin ulcer, Multiple ench... ORPHA:296
Lethal Kniest-Like Dysplasia
Anterior rib cupping, Edema, Mesomelic/rhizomelic limb shortening, Polyhydramnios, Wide anterior ... ORPHA:2347
Breath-Holding Spells
Pallor OMIM:607578
Hemoglobin D Disease
Pallor ORPHA:90039
Basal Cell Nevus Syndrome 1
Vertebral fusion, Spina bifida, Hydrocephalus, Irregular ossification of hand bones, Macrocephaly... OMIM:109400
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Anemia, Congenital Dyserythropoietic, Type Ib
Growth delay, Syndactyly, Short stature, Pallor OMIM:615631
Anophthalmia Plus Syndrome
Deviation of finger, Spina bifida ORPHA:1104
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Edema of the dorsum of hands, Femoral bowing, Clinodactyly of the 5t... OMIM:274000
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Nail-Patella Syndrome
Short stature, Spina bifida, Patellar aplasia, Hypoplastic radial head, Patellar hypoplasia, Disp... OMIM:161200
Hallermann-Streiff Syndrome
Spina bifida, Microcephaly, Proportionate short stature, Metaphyseal widening, Thin ribs, Decreas... OMIM:234100
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Joint laxity, Microcephaly, Growth delay, Pallor, Delayed puberty OMIM:600462
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Thiamine-Responsive Megaloblastic Anemia Syndrome
Short stature, Pallor ORPHA:49827
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor ORPHA:276608
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets, Pallor, Short stature OMIM:611590
Neu-Laxova Syndrome 1
Micromelia, Polyhydramnios, Calcaneovalgus deformity, Neonatal death, Finger syndactyly, Spina bi... OMIM:256520
Meckel Syndrome, Type 2
Encephalocele, Intrauterine growth retardation, Meningocele, Anencephaly OMIM:603194
Trisomy 20P
Finger syndactyly, Camptodactyly of finger, Spina bifida, Preaxial hand polydactyly, Reduced bone... ORPHA:261318
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Pyruvate Kinase Deficiency Of Red Cells
Intrauterine growth retardation, Pallor, Nonimmune hydrops fetalis OMIM:266200
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Beta-Thalassemia
Pallor, Skin ulcer, Reduced bone mineral density ORPHA:848
Phakomatosis Pigmentokeratotica
Hemiatrophy, Hypophosphatemic rickets, Spina bifida, Lymphedema ORPHA:2874
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Intrauterine growth retardation OMIM:611134
Retinitis Pigmentosa 51
Polydactyly, Pallor OMIM:613464
Dravet Syndrome
Limited knee extension, Pallor, Tibial torsion ORPHA:33069
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Focal Dermal Hypoplasia
Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Spina bifida, Split hand, Erythema, S... ORPHA:2092
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele ORPHA:101030
Vacterl With Hydrocephalus
Polyhydramnios, Spina bifida, Aqueductal stenosis, Hydrocephalus, Hypoplasia of the radius, Intra... ORPHA:3412
Sirenomelia
Aplasia/Hypoplasia of the radius, Spina bifida, Sirenomelia ORPHA:3169
Beta-Thalassemia Intermedia
Osteopenia, Spinal cord compression, Osteoporosis, Skin ulcer, Increased susceptibility to fractu... ORPHA:231222
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Mild postnatal g... OMIM:265300
Hyperinsulinism Due To Ucp2 Deficiency
Pallor ORPHA:276556
Aicardi Syndrome
Block vertebrae, Proximal placement of thumb, Spina bifida, Microcephaly, Missing ribs, Postnatal... OMIM:304050
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aplasia/Hypoplasia of the ribs, Broad hallux, Overlapping toe, Spina bifida, Microcephaly, Short ... ORPHA:508498
Kcnq2-Related Epileptic Encephalopathy
Pallor, Cerebral edema, Facial erythema ORPHA:439218
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Pallor ORPHA:276575
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Redundant neck skin, Polyhydramnios, Flexion contracture, Tibial bowing, Short tibia, Small proxi... ORPHA:96334
Spondyloepiphyseal Dysplasia Tarda
Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint, Limited e... ORPHA:93284
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor ORPHA:276580
Hyperinsulinism Due To Hnf1A Deficiency
Pallor ORPHA:324575
Cartilage-Hair Hypoplasia
Micromelia, Metaphyseal chondrodysplasia, Tibial bowing, Abnormal bone ossification, Short palm, ... ORPHA:175
Deafness-Lymphedema-Leukemia Syndrome
Pallor, Lymphedema ORPHA:3226
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Secondary microcephaly, Pallor OMIM:613839
American Trypanosomiasis
Periorbital edema, Pallor, Edema ORPHA:3386
Otopalatodigital Syndrome, Type Ii
Elbow contracture, Short metatarsal, Femoral bowing, Tibial bowing, Short metacarpal, Radial bowi... OMIM:304120
Jacobsen Syndrome
Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Short stature, Spina bifida, Missing rib... ORPHA:2308
Fanconi Anemia
Finger syndactyly, Hypoplasia of the ulna, Toe syndactyly, Short stature, Abnormal morphology of ... ORPHA:84
Diabetic Embryopathy
Hydrocephalus, Microcephaly, Spinal dysraphism ORPHA:1926
Myelofibrosis
Myelofibrosis, Pallor, Purpura OMIM:254450
Autosomal Recessive Malignant Osteopetrosis
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Hydrocephalus, Abnormal rib morp... ORPHA:667
Limb Body Wall Complex
Encephalocele, Duplication of hand bones, Broad hallux, Aplasia/hypoplasia involving bones of the... ORPHA:2369
22Q11.2 Deletion Syndrome
Purpura, Arachnodactyly, Short stature, Spina bifida, Polyhydramnios, Microcephaly, Hydrocephalus... ORPHA:567
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor, Microcephaly OMIM:246450
Leishmaniasis
Pallor, Skin ulcer ORPHA:507
Pagod Syndrome
Encephalocele, Short stature, Spina bifida, Microcephaly, Meningocele, Abnormal rib morphology ORPHA:991
Evans Syndrome
Pallor, Petechiae ORPHA:1959
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Hydromyelia, Occipital meni... ORPHA:268810
Triploidy
Polyhydramnios, Hydrocephalus, Meningocele, Holoprosencephaly, Intrauterine growth retardation ORPHA:3376
Vater/Vacterl Association
Occipital encephalocele, Syndactyly, Tethered cord, Spina bifida, Absent radius, Short thumb, Pos... OMIM:192350
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Primary Myelofibrosis
Ecchymosis, Pallor, Petechiae, Purpura ORPHA:824
Rubinstein-Taybi Syndrome 1
Polyhydramnios, Flexion contracture, Clinodactyly of the 5th finger, Prominent fingertip pads, Sp... OMIM:180849
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Microcephaly, Tethered cord, Short stature, Spinal dysraphism OMIM:617660
Koolen-De Vries Syndrome Due To A Point Mutation
Joint laxity, Anomaly of lower limb diaphyses, Arachnodactyly, Spina bifida, Tracheomalacia, Cran... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Joint laxity, Anomaly of lower limb diaphyses, Arachnodactyly, Spina bifida, Tracheomalacia, Cran... ORPHA:363958
Anemia, Hypochromic Microcytic, With Iron Overload 2
Growth delay, Pallor OMIM:615234
Diamond-Blackfan Anemia 1
11 pairs of ribs, Short stature, Absent thumb, Microcephaly, Short thumb, Partial duplication of ... OMIM:105650
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hypophosphatemic rickets, Pallor ORPHA:263455
Rheumatic Fever
Arthritis, Erythema, Pallor ORPHA:3099
Waardenburg Syndrome, Type 1
Myelomeningocele, Supernumerary ribs, Spina bifida OMIM:193500
Multiple Osteochondromas
Deformed radius, Abnormal hand morphology, Metaphyseal widening, Abnormal tibia morphology, Abnor... ORPHA:321
Dominant Beta-Thalassemia
Bowing of the long bones, Osteoporosis, Skin ulcer, Genu valgum, Growth delay, Pallor, Delayed pu... ORPHA:231226
Wildervanck Syndrome
Meningocele ORPHA:3456
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Split Cord Malformation
Tethered cord, Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Talipes cavus equin... ORPHA:573278
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Tethered cord, Sandal gap, Macrodactyly, Cranial hyperostosis, Spinal dysraphism OMIM:612918
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Cloacal Exstrophy
Spina bifida, Myelomeningocele, Abnormal tibia morphology, Absent foot, Abnormal fibula morpholog... ORPHA:93929
Acquired Idiopathic Sideroblastic Anemia
Pallor ORPHA:75564
Waldenström Macroglobulinemia
Periorbital edema, Pedal edema, Pallor, Pleural effusion, Purpura ORPHA:33226
Beta-Ketothiolase Deficiency
Pallor, Edema, Dehydration ORPHA:134
Neurofibromatosis, Type I
Short stature, Spina bifida, Aqueductal stenosis, Hydrocephalus, Tibial pseudarthrosis, Genu valg... OMIM:162200
Fumarase Deficiency
Relative macrocephaly, Polyhydramnios, Microcephaly, Pallor, Ascites OMIM:606812
3-Hydroxy-3-Methylglutaric Aciduria
Microcephaly, Pallor, Edema, Dehydration ORPHA:20
Irida Syndrome
Pallor ORPHA:209981
Humero-Radial Synostosis
Meningocele ORPHA:3265
Fanconi Anemia, Complementation Group C
Anemic pallor, Short stature, Absent thumb, Absent radius, Short thumb, Microcephaly, Flexion con... OMIM:227645
Thoraco-Abdominal Enteric Duplication
Meningocele ORPHA:1759
Sepsis In Premature Infants
Petechiae, Pallor, Edema, Purpura ORPHA:90051
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Beta-Thalassemia Major
Bowing of the long bones, Osteoporosis, Skin ulcer, Genu valgum, Growth delay, Pallor, Delayed pu... ORPHA:231214
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Hydromyelia OMIM:600145
Drug-Induced Autoimmune Hemolytic Anemia
Pallor ORPHA:90037
Hereditary Spherocytosis
Growth delay, Skin ulcer, Pallor, Gout ORPHA:822
Cold Agglutinin Disease
Pallor ORPHA:56425
Myopathy, Mitochondrial, And Ataxia
Growth delay, Short stature, Pallor OMIM:617675
Idiopathic Pulmonary Hemosiderosis
Pallor ORPHA:99931
Mixed-Type Autoimmune Hemolytic Anemia
Pallor ORPHA:90036
Holoprosencephaly
Encephalocele, Microcephaly, Hydrocephalus, Spinal cord tumor, Spinal dysraphism, Joint hyperflex... ORPHA:2162
Autosomal Recessive Spondylocostal Dysostosis
Short stature, Meningocele, Umbilical hernia, Spina bifida occulta, Intrauterine growth retardation ORPHA:2311
Incontinentia Pigmenti
Short stature, Microcephaly, Erythema, Pallor, Supernumerary ribs OMIM:308300
Prolactinoma
Osteopenia, Osteoporosis, Pallor, Delayed puberty ORPHA:2965
Congenital Dyserythropoietic Anemia Type Iii
Short stature, Pallor ORPHA:98870
Senior-Loken Syndrome 8
Polydactyly, Pallor OMIM:616307
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Growth delay, Anemic pallor, Edema ORPHA:329971
Retinitis Pigmentosa 75
Pallor OMIM:617023
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Tay-Sachs Disease
Pallor OMIM:272800
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Systemic Mastocytosis With Associated Hematologic Neoplasm
Osteoporosis, Pallor, Increased susceptibility to fractures ORPHA:98849
Autoimmune Hemolytic Anemia, Warm Type
Pallor ORPHA:90033
Refractory Anemia With Excess Blasts
Anemic pallor, Pedal edema ORPHA:86839
Degcags Syndrome
Osteopenia, Syndactyly, Toe syndactyly, Craniosynostosis, Polyhydramnios, Microcephaly, Short thu... OMIM:619488
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Growth delay, Pallor ORPHA:300298
Idiopathic Hypereosinophilic Syndrome
Myelofibrosis, Swelling of proximal interphalangeal joints, Angioedema, Clubbing, Arthritis, Join... ORPHA:3260
Fructose-1,6-Bisphosphatase Deficiency
Pallor ORPHA:348
Fanconi Anemia, Complementation Group E
Anemic pallor, Short stature, Absent thumb, Absent radius, Short thumb, Microcephaly, Complete du... OMIM:600901
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Childhood Absence Epilepsy
Pallor ORPHA:64280
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
Fanconi Anemia, Complementation Group A
Anemic pallor, Short stature, Absent thumb, Absent radius, Short thumb, Microcephaly, Complete du... OMIM:227650
Esophageal Atresia
Polyhydramnios, Laryngotracheomalacia, Growth delay, Pallor, Clinodactyly ORPHA:1199
Hereditary Folate Malabsorption
Pallor ORPHA:90045
Diamond-Blackfan Anemia
Short stature, Nonimmune hydrops fetalis, Absent thumb, Microcephaly, Short thumb, Partial duplic... ORPHA:124
Letterer-Siwe Disease
Pallor OMIM:246400
Pearson Marrow-Pancreas Syndrome
Pallor, Erythema, Hydrops fetalis, Dehydration OMIM:557000
Joubert Syndrome 14
Encephalocele, Hydrocephalus, Meningocele, Growth delay OMIM:614424
Non-Functioning Pituitary Adenoma
Pallor ORPHA:91349
Fanconi Anemia, Complementation Group D2
Anemic pallor, Short stature, Absent thumb, Absent radius, Preaxial hand polydactyly, Short thumb... OMIM:227646
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Pallor ORPHA:331206
Elliptocytosis 1
Pallor OMIM:611804
Infection-Related Hemolytic Uremic Syndrome
Edema, Pleural empyema, Pallor, Septic arthritis, Generalized edema ORPHA:544482
Alternating Hemiplegia Of Childhood
Pallor, Dehydration ORPHA:2131
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Tethered cord, Spina bifida, Tapered finger OMIM:619480
Adenohypophysitis
Pallor ORPHA:95512
Tsh-Secreting Pituitary Adenoma
Osteopenia, Pericardial effusion, Osteoporosis, Pallor, Delayed puberty ORPHA:91347
Imerslund-Gräsbeck Syndrome
Pallor ORPHA:35858
Panhypophysitis
Pallor ORPHA:95513
Histiocytoid Cardiomyopathy
Hydrocephalus, Pallor, Pulmonary edema ORPHA:137675
Sheehan Syndrome
Dry skin, Pallor ORPHA:91355
Pituitary Apoplexy
Pallor ORPHA:95613
Aregenerative Anemia
Pallor ORPHA:101096
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele, Short stature ORPHA:2031
Hereditary Pheochromocytoma-Paraganglioma
Pallor ORPHA:29072
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Pallor OMIM:194380
Neurocutaneous Melanocytosis
Meningocele ORPHA:2481
Phocomelia, Schinzel Type
Intrauterine growth retardation, Disproportionate short stature, Meningocele, Hydrops fetalis ORPHA:2879
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor OMIM:300908
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor OMIM:616959
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Polyhydramnios, Hydrocephalus, Anencephaly, Hydrops fetalis, Occipital meningocele OMIM:616546
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Acromelic Frontonasal Dysplasia
Encephalocele, Meningocele ORPHA:1827
Lateral Meningocele Syndrome
Umbilical hernia, Hydrocephalus, Meningocele, Short stature OMIM:130720
Exstrophy-Epispadias Complex
Hydrocephalus, Spina bifida, Microcephaly ORPHA:322
Lateral Meningocele Syndrome
Umbilical hernia, Meningocele ORPHA:2789
Lathosterolosis
Intrauterine growth retardation, Meningocele ORPHA:46059
Multiple Endocrine Neoplasia Type 2
Joint laxity, Pallor ORPHA:653
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Short stature, Rhizomelic leg shortening, Meningocele, Rhizomelic arm sh... ORPHA:397715
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hydrocephalus, Pallor, Microcephaly OMIM:253280
Von Hippel-Lindau Disease
Pallor, Macular edema ORPHA:892
Encephalocraniocutaneous Lipomatosis
Craniofacial hyperostosis, Abnormal cartilage morphology, Bone cyst, Osteolysis, Macrocephaly ORPHA:2396
Curry-Jones Syndrome
Occipital meningocele, Lipomyelomeningocele OMIM:601707
Orofaciodigital Syndrome Vi
Occipital meningocele, Short stature OMIM:277170
Holoprosencephaly 7
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... OMIM:610828
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele ORPHA:1010
Arima Syndrome
Growth delay, Occipital meningocele OMIM:243910
Knobloch Syndrome 1
Occipital meningocele, Occipital encephalocele, Spina bifida occulta OMIM:267750
Goodpasture Syndrome
Pallor OMIM:233450
Marfan Syndrome
Meningocele ORPHA:558
Congenital Total Pulmonary Venous Return Anomaly
Pallor ORPHA:99125
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Occipital meningocele, Disproportionate short stature OMIM:276820

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 Med31

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 Med31.

No publications found that use IMPC mice or data for Med31.

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