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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
Spinal dysraphism, Spina bifida ORPHA:3176
Preeclampsia/Eclampsia 1
Intrauterine growth retardation, Edema OMIM:189800
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida, Macrocephaly ORPHA:1931
Aplasia Cutis Congenita
Erythema, Toe syndactyly, Spinal dysraphism, Finger syndactyly, Skin ulcer, Abnormality of bone m... ORPHA:1114
Fountain Syndrome
Facial edema, Craniofacial hyperostosis, Short distal phalanx of finger, Erythema, Coarse metaphy... ORPHA:3219
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor, Abnormal bone structure ORPHA:46532
Nevus Comedonicus Syndrome
Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Microcephaly, Spina bifida, Spina bifida... ORPHA:64754
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Camptodactyly, Talipes equinovarus, Joint contracture of the hand, Spina bifida OMIM:211960
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Camptodactyly Syndrome, Guadalajara Type 1
Short distal phalanx of finger, Toe syndactyly, Short toe, Camptodactyly of finger, Intrauterine ... ORPHA:1327
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Short stature, Osteoporosis, Pallor ORPHA:2786
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida, Postaxial hand polydactyly ORPHA:945
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Acropectorovertebral Dysplasia
Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Campt... ORPHA:957
Isolated Klippel-Feil Syndrome
Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Spina bifida, Abnorm... ORPHA:2345
Schisis Association
Micromelia, Encephalocele, Microcephaly, Spina bifida, Anencephaly ORPHA:63862
Ulnar Hemimelia
Abnormal upper limb bone morphology, Short forearm, Radial bowing, Carpal synostosis, Radial club... ORPHA:93320
Congenital Heart Block
Intrauterine growth retardation, Oligohydramnios, Pleural effusion, Peripheral edema, Pallor, Per... ORPHA:60041
Fibular Hemimelia
Toe syndactyly, Limitation of joint mobility, Short tibia, Limited knee flexion/extension, Finger... ORPHA:93323
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Peripheral Cone Dystrophy
Pallor OMIM:609021
Lymphatic Malformation 8
Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Stillbirth, Polyhydramnios, Peric... OMIM:618773
Intellectual Developmental Disorder, Autosomal Dominant 72
Microcephaly, Spina bifida, Macrocephaly OMIM:620439
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Finger syndactyly, Micromelia, Intrauterine growth retardation, Encephalocele,... ORPHA:1908
Neu-Laxova Syndrome 2
Toe syndactyly, Finger syndactyly, Intrauterine growth retardation, Microcephaly, Spina bifida, P... OMIM:616038
Myopathic Ehlers-Danlos Syndrome
Ankle flexion contracture, Joint contracture of the hand, Congenital contracture, Shoulder flexio... ORPHA:536516
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Neu-Laxova Syndrome
Osteopenia, Rickets, Micromelia, Osteomalacia, Intrauterine growth retardation, Lack of skin elas... ORPHA:2671
Mosaic Trisomy 9
Rocker bottom foot, Limitation of joint mobility, Micromelia, Finger clinodactyly, Camptodactyly ... ORPHA:99776
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Aplasia/Hypoplasia of the radius, Anencephaly, Spina bifida ORPHA:2476
Cerebrocostomandibular Syndrome
Posterior rib gap, Hydranencephaly, Tracheomalacia, Myelomeningocele, Intrauterine growth retarda... ORPHA:1393
Pelvis-Shoulder Dysplasia
Fifth finger distal phalanx clinodactyly, Hydranencephaly, Camptodactyly of finger, Mesomelic/rhi... ORPHA:2839
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
Amish Lethal Microcephaly
Limitation of joint mobility, Decreased skull ossification, Microcephaly, Spina bifida, Osteoporosis ORPHA:99742
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology, Pallor OMIM:606353
Hb Bart'S Hydrops Fetalis
Oligohydramnios, Pallor, Hydrocephalus, Polyhydramnios, Hydrops fetalis ORPHA:163596
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Syringomyelia, Hydrocephalus, Spina bifida OMIM:207950
Achondrogenesis, Type Ib
Neonatal short-limb short stature, Micromelia, Umbilical hernia, Absent or minimally ossified ver... OMIM:600972
Dermatitis, Atopic
Dry skin, Facial erythema, Pallor OMIM:603165
Craniorachischisis
Bifid sternum, Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly ORPHA:63260
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Genu valgum, Carpal bone hypoplasia, Wind-swept deformity of the knees, Long proximal phalanx of ... OMIM:603546
Caudal Duplication
Myelomeningocele, Spinal cord lesion, Spina bifida ORPHA:1756
Czeizel-Losonci Syndrome
1-2 finger syndactyly, Clubbing of toes, Ectrodactyly, Myelomeningocele, 2-3 finger syndactyly, S... ORPHA:2437
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Short thumb, Preaxial hand polydactyly, Abnormal thumb morphology... ORPHA:1120
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Chromosome 17P13.1 Deletion Syndrome
Broad hallux, Umbilical hernia, Elbow flexion contracture, Long hallux, Oligohydramnios, Knee fle... OMIM:613776
Cyclic Vomiting Syndrome
Microcephaly, Growth delay, Pallor OMIM:500007
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Facial edema, Short distal phalanx of finger, Intrauterine growth retardation, Epiphyseal stippli... ORPHA:86822
Campomelic Dysplasia
Thin ribs, Delayed epiphyseal ossification, Shortening of all phalanges of fingers, Contracture o... OMIM:114290
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Growth delay, Pallor OMIM:613561
Optic Atrophy 1
Pallor OMIM:165500
Trisomy 18
Growth delay, Deviation of finger, Camptodactyly of finger, Intrauterine growth retardation, Olig... ORPHA:3380
Fanconi Anemia, Complementation Group I
Absent thumb, Short 1st metacarpal, Short thumb, Intrauterine growth retardation, Pallor, Microce... OMIM:609053
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Iniencephaly
Rhizomelia, Spinal dysraphism, Arthrogryposis multiplex congenita, Rocker bottom foot, Myelomenin... ORPHA:63259
Ollier Disease
Skin ulcer, Micromelia, Abnormal cartilage morphology, Joint stiffness, Multiple enchondromatosis... ORPHA:296
Breath-Holding Spells
Pallor OMIM:607578
Lethal Kniest-Like Dysplasia
Wide anterior fontanel, Flared metaphysis, Abnormal cartilage morphology, Mesomelic/rhizomelic li... ORPHA:2347
Hemoglobin D Disease
Pallor ORPHA:90039
Basal Cell Nevus Syndrome 1
Short distal phalanx of the thumb, Short ribs, Supernumerary ribs, Polydactyly, Short 4th metacar... OMIM:109400
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Anemia, Congenital Dyserythropoietic, Type Ib
Short stature, Growth delay, Pallor, Syndactyly OMIM:615631
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Anophthalmia Plus Syndrome
Deviation of finger, Spina bifida ORPHA:1104
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Patellar aplas... OMIM:274000
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Nail-Patella Syndrome
Elongated radius, Patellar hypoplasia, Hypoplastic radial head, Limited elbow extension, Patellar... OMIM:161200
Hallermann-Streiff Syndrome
Thin ribs, Decreased number of sternal ossification centers, Tracheomalacia, Dry skin, Proportion... OMIM:234100
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pallor, Joint hypermobility, Microcephaly, Delayed puberty, Growth delay OMIM:600462
Thiamine-Responsive Megaloblastic Anemia Syndrome
Short stature, Pallor ORPHA:49827
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor ORPHA:276608
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Short stature, Rickets, Pallor OMIM:611590
Neu-Laxova Syndrome 1
Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, Neonatal death, S... OMIM:256520
Trisomy 20P
Finger syndactyly, Camptodactyly of finger, Umbilical hernia, Preaxial hand polydactyly, Joint hy... ORPHA:261318
Beta-Thalassemia
Reduced bone mineral density, Skin ulcer, Pallor ORPHA:848
Pyruvate Kinase Deficiency Of Red Cells
Intrauterine growth retardation, Pallor, Nonimmune hydrops fetalis OMIM:266200
Meckel Syndrome, Type 2
Intrauterine growth retardation, Anencephaly, Encephalocele, Meningocele OMIM:603194
Dravet Syndrome
Limited knee extension, Pallor, Tibial torsion ORPHA:33069
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Phakomatosis Pigmentokeratotica
Hemiatrophy, Hypophosphatemic rickets, Spina bifida, Lymphedema ORPHA:2874
Retinitis Pigmentosa 51
Pallor, Polydactyly OMIM:613464
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Meckel Syndrome, Type 4
Intrauterine growth retardation, Encephalocele, Hydrocephalus, Meningocele, Anencephaly OMIM:611134
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Mild postnatal growth re... OMIM:265300
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Pulmonary Edema Of Mountaineers, Susceptibility To
Pulmonary edema, Edema OMIM:178400
Spondyloepiphyseal Dysplasia Tarda
Enlarged metaphyses, Finger swelling, Limitation of joint mobility, Premature osteoarthritis, Dys... ORPHA:93284
Focal Dermal Hypoplasia
Erythema, Toe syndactyly, Coarse metaphyseal trabecularization, Finger syndactyly, Camptodactyly ... ORPHA:2092
Subependymal Nodular Heterotopia
Myelomeningocele, Meningocele, Occipital encephalocele, Nasofrontal encephalocele ORPHA:101030
Vacterl With Hydrocephalus
Intrauterine growth retardation, Spina bifida, Hydrocephalus, Hypoplasia of the radius, Polyhydra... ORPHA:3412
Sirenomelia
Aplasia/Hypoplasia of the radius, Sirenomelia, Spina bifida ORPHA:3169
Hyperinsulinism Due To Ucp2 Deficiency
Pallor ORPHA:276556
Cartilage-Hair Hypoplasia
Small hand, Bowing of the long bones, Abnormal bone ossification, Diaphyseal undertubulation, Met... ORPHA:175
Kcnq2-Related Epileptic Encephalopathy
Cerebral edema, Facial erythema, Pallor ORPHA:439218
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Short 5th finger, Hypermobility of interphalangeal joints, Broad thumb, Broad hallux, Preaxial ha... ORPHA:508498
Beta-Thalassemia Intermedia
Osteopenia, Skin ulcer, Pallor, Increased susceptibility to fractures, Spinal cord compression, O... ORPHA:231222
Aicardi Syndrome
Block vertebrae, Postnatal growth retardation, Missing ribs, Supernumerary ribs, Rib fusion, Micr... OMIM:304050
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Pallor ORPHA:276575
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Abnormality of the costochondral junction, Short tibia, Thumb contracture, Postnatal growth retar... ORPHA:96334
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor ORPHA:276580
Hyperinsulinism Due To Hnf1A Deficiency
Pallor ORPHA:324575
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
Toe syndactyly, Broad thumb, Radial bowing, Rudimentary fibula, Postnatal growth retardation, Ove... OMIM:304120
Fanconi Anemia
Aplasia/Hypoplasia of fingers, Clubbing of toes, Toe syndactyly, Aplasia/Hypoplasia of the radius... ORPHA:84
Jacobsen Syndrome
Toe clinodactyly, Toe syndactyly, Finger syndactyly, Short toe, Long hallux, Intrauterine growth ... ORPHA:2308
Diabetic Embryopathy
Microcephaly, Spinal dysraphism, Hydrocephalus ORPHA:1926
Evans Syndrome
Pallor, Petechiae ORPHA:1959
Limb Body Wall Complex
Broad hallux, Myelomeningocele, Aplasia of the proximal phalanges of the hand, Cutaneous finger s... ORPHA:2369
Autosomal Recessive Malignant Osteopetrosis
Growth delay, Abnormal rib morphology, Abnormal metaphysis morphology, Pallor, Bowing of the long... ORPHA:667
Leishmaniasis
Pallor, Skin ulcer ORPHA:507
Vater/Vacterl Association
Occipital encephalocele, Short thumb, Preaxial polydactyly, Absent radius, Postnatal growth retar... OMIM:192350
Primary Myelofibrosis
Purpura, Petechiae, Pallor, Ecchymosis ORPHA:824
Femoral-Facial Syndrome
Toe syndactyly, Encephalocele, Humeroradial synostosis, Limited elbow movement, Radioulnar synost... OMIM:134780
Pagod Syndrome
Encephalocele, Microcephaly, Spina bifida, Abnormal rib morphology, Short stature, Meningocele ORPHA:991
Cutis Laxa, Autosomal Recessive, Type Ib
Oligohydramnios, Joint hypermobility, Arachnodactyly, Microcephaly, Bowing of the long bones, Cut... OMIM:614437
22Q11.2 Deletion Syndrome
Multiple suture craniosynostosis, Umbilical hernia, Intrauterine growth retardation, Joint hyperm... ORPHA:567
Triploidy
Intrauterine growth retardation, Hydrocephalus, Polyhydramnios, Meningocele, Holoprosencephaly ORPHA:3376
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Myelofibrosis
Myelofibrosis, Pallor, Purpura OMIM:254450
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Short stature, Microcephaly, Spinal dysraphism, Tethered cord OMIM:617660
Rubinstein-Taybi Syndrome 1
Broad thumb, Postnatal growth retardation, Talipes equinovarus, Dislocated radial head, Syndactyl... OMIM:180849
Isolated Posterior Meningocele
Hydromyelia, Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Neural tube... ORPHA:268810
Koolen-De Vries Syndrome Due To A Point Mutation
Dural ectasia, Tracheomalacia, Prominent fingertip pads, Postnatal growth retardation, Joint hype... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Dural ectasia, Tracheomalacia, Prominent fingertip pads, Postnatal growth retardation, Joint hype... ORPHA:363958
Dominant Beta-Thalassemia
Skin ulcer, Genu valgum, Pallor, Bowing of the long bones, Delayed puberty, Osteoporosis, Growth ... ORPHA:231226
Diamond-Blackfan Anemia 1
Absent thumb, Short thumb, Intrauterine growth retardation, 11 pairs of ribs, Pallor, Partial dup... OMIM:105650
Rheumatic Fever
Erythema, Pallor, Arthritis ORPHA:3099
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hypophosphatemic rickets, Pallor ORPHA:263455
Multiple Osteochondromas
Rib exostoses, Limitation of joint mobility, Abnormal tibia morphology, Limited hip movement, Abn... ORPHA:321
Waardenburg Syndrome, Type 1
Myelomeningocele, Supernumerary ribs, Spina bifida OMIM:193500
Cloacal Exstrophy
Myelomeningocele, Abnormal tibia morphology, Talipes equinovarus, Spina bifida, Abnormal fibula m... ORPHA:93929
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Macrodactyly, Spinal dysraphism, Sandal gap, Cranial hyperostosis, Tethered cord OMIM:612918
Anemia, Hypochromic Microcytic, With Iron Overload 2
Growth delay, Pallor OMIM:615234
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Acquired Idiopathic Sideroblastic Anemia
Pallor ORPHA:75564
Beta-Ketothiolase Deficiency
Pallor, Dehydration, Edema ORPHA:134
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Short stature, Intrauterine growth retardation, Pallor OMIM:301310
Fumarase Deficiency
Ascites, Pallor, Microcephaly, Polyhydramnios, Relative macrocephaly OMIM:606812
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Microcephaly, Pallor, Dehydration OMIM:246450
Waldenström Macroglobulinemia
Pallor, Pleural effusion, Periorbital edema, Purpura, Pedal edema ORPHA:33226
3-Hydroxy-3-Methylglutaric Aciduria
Microcephaly, Pallor, Dehydration, Edema ORPHA:20
Wildervanck Syndrome
Meningocele ORPHA:3456
Irida Syndrome
Pallor ORPHA:209981
Fanconi Anemia, Complementation Group C
Absent thumb, Short thumb, Intrauterine growth retardation, Microcephaly, Anemic pallor, Absent r... OMIM:227645
Humero-Radial Synostosis
Meningocele ORPHA:3265
Thoraco-Abdominal Enteric Duplication
Meningocele ORPHA:1759
Drug-Induced Autoimmune Hemolytic Anemia
Pallor ORPHA:90037
Beta-Thalassemia Major
Skin ulcer, Genu valgum, Pallor, Bowing of the long bones, Delayed puberty, Osteoporosis, Growth ... ORPHA:231214
Cold Agglutinin Disease
Pallor ORPHA:56425
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Sepsis In Premature Infants
Pallor, Purpura, Petechiae, Edema ORPHA:90051
Neurofibromatosis, Type I
Genu valgum, Tibial pseudarthrosis, Spina bifida, Hydrocephalus, Macrocephaly, Short stature, Aqu... OMIM:162200
Idiopathic Pulmonary Hemosiderosis
Pallor ORPHA:99931
Hereditary Spherocytosis
Gout, Growth delay, Skin ulcer, Pallor ORPHA:822
Myopathy, Mitochondrial, And Ataxia
Short stature, Growth delay, Pallor OMIM:617675
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Mixed-Type Autoimmune Hemolytic Anemia
Pallor ORPHA:90036
Holoprosencephaly
Spinal dysraphism, Branchial anomaly, Encephalocele, Joint hypermobility, Microcephaly, Hand poly... ORPHA:2162
Autosomal Recessive Spondylocostal Dysostosis
Umbilical hernia, Intrauterine growth retardation, Short stature, Spina bifida occulta, Meningocele ORPHA:2311
Sacral Defect With Anterior Meningocele
Hydromyelia, Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Dermal sinus tract OMIM:600145
Incontinentia Pigmenti
Erythema, Pallor, Supernumerary ribs, Microcephaly, Short stature OMIM:308300
Congenital Dyserythropoietic Anemia Type Iii
Short stature, Pallor ORPHA:98870
Senior-Loken Syndrome 8
Pallor, Polydactyly OMIM:616307
Prolactinoma
Osteoporosis, Osteopenia, Delayed puberty, Pallor ORPHA:2965
Retinitis Pigmentosa 75
Pallor OMIM:617023
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemic pallor, Growth delay, Edema ORPHA:329971
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Tay-Sachs Disease
Pallor OMIM:272800
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Refractory Anemia With Excess Blasts
Anemic pallor, Pedal edema ORPHA:86839
Degcags Syndrome
Osteopenia, Toe syndactyly, Tracheomalacia, Short thumb, Preaxial hand polydactyly, Intrauterine ... OMIM:619488
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Systemic Mastocytosis With Associated Hematologic Neoplasm
Osteoporosis, Pallor, Increased susceptibility to fractures ORPHA:98849
Autoimmune Hemolytic Anemia, Warm Type
Pallor ORPHA:90033
Idiopathic Hypereosinophilic Syndrome
Angioedema, Swelling of proximal interphalangeal joints, Pleural effusion, Joint swelling, Pallor... ORPHA:3260
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Growth delay, Pallor ORPHA:300298
Fructose-1,6-Bisphosphatase Deficiency
Pallor ORPHA:348
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Microcephaly, Pallor, Hydrocephalus OMIM:277400
Fanconi Anemia, Complementation Group E
Absent thumb, Short thumb, Microcephaly, Anemic pallor, Absent radius, Short stature, 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
Absent thumb, Short thumb, Microcephaly, Anemic pallor, Absent radius, Short stature, Complete du... OMIM:227650
Esophageal Atresia
Clinodactyly, Pallor, Polyhydramnios, Laryngotracheomalacia, Growth delay ORPHA:1199
Hereditary Folate Malabsorption
Pallor ORPHA:90045
Diamond-Blackfan Anemia
Absent thumb, Short thumb, Pallor, Partial duplication of thumb phalanx, Nonimmune hydrops fetali... ORPHA:124
Pearson Marrow-Pancreas Syndrome
Erythema, Hydrops fetalis, Pallor, Dehydration OMIM:557000
Neuroblastoma
Pathologic fracture, Anemic pallor, Spinal cord compression ORPHA:635
Joubert Syndrome 14
Hydrocephalus, Meningocele, Growth delay, Encephalocele OMIM:614424
Letterer-Siwe Disease
Pallor OMIM:246400
Non-Functioning Pituitary Adenoma
Pallor ORPHA:91349
Fanconi Anemia, Complementation Group D2
Absent thumb, Short thumb, Preaxial hand polydactyly, Partial duplication of thumb phalanx, Micro... OMIM:227646
Infection-Related Hemolytic Uremic Syndrome
Generalized edema, Pallor, Septic arthritis, Pleural empyema, Edema ORPHA:544482
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Pallor ORPHA:331206
Alternating Hemiplegia Of Childhood
Pallor, Dehydration ORPHA:2131
Adenohypophysitis
Pallor ORPHA:95512
Elliptocytosis 1
Pallor OMIM:611804
Imerslund-Gräsbeck Syndrome
Pallor ORPHA:35858
Panhypophysitis
Pallor ORPHA:95513
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Tethered cord, Spina bifida, Tapered finger OMIM:619480
Tsh-Secreting Pituitary Adenoma
Osteopenia, Pallor, Delayed puberty, Pericardial effusion, Osteoporosis ORPHA:91347
Histiocytoid Cardiomyopathy
Pulmonary edema, Pallor, Hydrocephalus ORPHA:137675
Sheehan Syndrome
Dry skin, Pallor ORPHA:91355
Aregenerative Anemia
Pallor ORPHA:101096
Pituitary Apoplexy
Pallor ORPHA:95613
Hereditary Pheochromocytoma-Paraganglioma
Pallor ORPHA:29072
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Short stature, Meningocele ORPHA:2031
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Pallor OMIM:194380
Phocomelia, Schinzel Type
Disproportionate short stature, Intrauterine growth retardation, Hydrops fetalis, Meningocele ORPHA:2879
Neurocutaneous Melanocytosis
Meningocele ORPHA:2481
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor OMIM:300908
Fliedner-Zweier Syndrome
Meningocele OMIM:620511
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Occipital meningocele, Hydrocephalus, Polyhydramnios, Hydrops fetalis, Anencephaly OMIM:616546
Acromelic Frontonasal Dysplasia
Meningocele, Encephalocele ORPHA:1827
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Lateral Meningocele Syndrome
Short stature, Meningocele, Hydrocephalus, Umbilical hernia OMIM:130720
Exstrophy-Epispadias Complex
Hydrocephalus, Microcephaly, Spina bifida ORPHA:322
Lateral Meningocele Syndrome
Meningocele, Umbilical hernia ORPHA:2789
Lathosterolosis
Intrauterine growth retardation, Meningocele ORPHA:46059
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Rhizomelic arm shortening, Rhizomelic leg shortening, Short stature, Men... ORPHA:397715
Multiple Endocrine Neoplasia Type 2
Pallor, Joint hypermobility ORPHA:653
Von Hippel-Lindau Disease
Macular edema, Pallor ORPHA:892
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Microcephaly, Pallor, Hydrocephalus OMIM:253280
Encephalocraniocutaneous Lipomatosis
Craniofacial hyperostosis, Abnormal cartilage morphology, Macrocephaly, Bone cyst, Osteolysis ORPHA:2396
Curry-Jones Syndrome
Occipital meningocele, Lipomyelomeningocele OMIM:601707
Orofaciodigital Syndrome Vi
Short stature, Occipital meningocele OMIM:277170
Holoprosencephaly 7
Alobar holoprosencephaly, Semilobar holoprosencephaly, Hydrocephalus, Holoprosencephaly, Occipita... OMIM:610828
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele ORPHA:1010
Arima Syndrome
Occipital meningocele, Growth delay OMIM:243910
Knobloch Syndrome 1
Spina bifida occulta, Occipital encephalocele, Occipital meningocele OMIM:267750
Goodpasture Syndrome
Pallor OMIM:233450
Holoprosencephaly 9
Alobar holoprosencephaly, Hydrocephalus, Short stature, Holoprosencephaly, Occipital meningocele OMIM:610829
Marfan Syndrome
Meningocele ORPHA:558
Congenital Total Pulmonary Venous Return Anomaly
Pallor ORPHA:99125
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Disproportionate short stature, Occipital meningocele 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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