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Gene: Mex3c MGI:2652843

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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:
mex3 RNA binding family member C
Synonyms:
Rkhd2,  BM-013,  A130001D14Rik

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 Mex3c 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 Mex3c by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Mesomelic short stature, Short tibia, Neonatal short-limb short stature... OMIM:156230
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... ORPHA:93405
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... OMIM:201250
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... OMIM:118651
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Short stature, Tarsal syno... OMIM:112910
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P... OMIM:618728
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Mesomelic short st... OMIM:249700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Mesomelic Dysplasia, Savarirayan Type
Short stature, Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Fibular aplasia, ... OMIM:605274
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Severe short stature, Death in childhood OMIM:302000
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short tibia, Hypoplasia ... ORPHA:1972
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... OMIM:127300
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... OMIM:607778
Acheiropody
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... OMIM:200500
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... ORPHA:1986
Spondyloepimetaphyseal Dysplasia, Missouri Type
Disproportionate short stature, Flared metaphysis, Knee osteoarthritis, Flattened epiphysis, Tibi... ORPHA:93356
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Short stature, Absent thumb, Fibular hypoplasia, Aplasia/Hyp... OMIM:612447
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Feingold Syndrome 2
Short stature, Postnatal growth retardation, Short thumb, Short middle phalanx of the 2nd finger,... OMIM:614326
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Short stature, Polydactyly OMIM:300484
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the thumb, Short stature, Patellar aplasia, Abnormal fibula morphology, Apl... ORPHA:988
Blount Disease
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... ORPHA:2768
Endove Syndrome, Limb-Only Type
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... OMIM:619217
Acrofacial Dysostosis Syndrome Of Rodriguez
11 pairs of ribs, Short stature, Overlapping toe, Micrognathia, Wide anterior fontanel, Fibular h... OMIM:201170
Laurin-Sandrow Syndrome
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... OMIM:135750
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Short stature, Glenoid fossa hypoplasia, Hip d... ORPHA:85170
Eiken Syndrome
Epiphyseal dysplasia, Absence of the sacrum, Abnormal acetabulum morphology, Short stature, Abnor... ORPHA:79106
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... ORPHA:2756
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral bowing, Metaphyseal cuppin... OMIM:156500
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Short stature, Micrognathia, Delayed epiphyseal ... ORPHA:166016
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra... OMIM:612576
Weismann-Netter Syndrome
Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Abnormality of the h... ORPHA:3344
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... ORPHA:93322
Short Stature, Dauber-Argente Type
Long toe, Arachnodactyly, Short stature, Decreased fibular diameter, Postnatal growth retardation... OMIM:619489
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Surfactant Metabolism Dysfunction, Pulmonary, 3
Death in infancy, Cyanosis, Crazy paving pattern, Nonspecific interstitial pneumonia, Nodular pat... OMIM:610921
Orofaciodigital Syndrome Iv
Toe syndactyly, Short stature, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polyda... OMIM:258860
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:253240
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Acromesomelic Dysplasia 2B
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m... OMIM:228900
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly OMIM:228250
Neuralgic Amyotrophy
Acrocyanosis, Short stature ORPHA:2901
Slc35A2-Cdg
Short stature, Camptodactyly of finger, Coxa valga, Precocious puberty, Metatarsus adductus, Shor... ORPHA:356961
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... OMIM:119100
Acromesomelic Dysplasia 3
Short phalanx of finger, Hypoplasia of the ulna, Elevated circulating luteinizing hormone level, ... OMIM:609441
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Cyanosis, Desquamative interstitial pneumonitis, Intraalveolar phospholipid acc... OMIM:265120
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of the radius, Brachydactyly, Short stature, Tarsal synostosis, Abnormal morp... ORPHA:2639
Acheiropodia
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... ORPHA:931
Interstitial Pneumonitis, Desquamative, Familial
Desquamative interstitial pneumonitis, Cyanosis, Recurrent upper respiratory tract infections, Ty... OMIM:263000
Breath-Holding Spells
Cyanosis OMIM:607578
Phosphoserine Aminotransferase Deficiency
Death in infancy, Cyanotic episode OMIM:610992
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Rickets of the lower limbs, Delayed epiphyseal ossif... OMIM:600785
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Dispr... ORPHA:2634
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Clinodactyly of the 5th fin... OMIM:268305
Infant Acute Respiratory Distress Syndrome
Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Hypoxemia, Pulmonary edema ORPHA:70587
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Perching Syndrome
Cyanosis OMIM:617055
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:615872
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Orofaciodigital Syndrome Ix
Toe syndactyly, Short stature, Hand polydactyly, Camptodactyly, Short tibia OMIM:258865
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Micrognathia, Postnatal growth retardation, Precocious puberty, Acromicria, Small hand, Short foo... ORPHA:254525
Metaphyseal Dysplasia, Braun-Tinschert Type
Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle... ORPHA:85188
Microcephaly-Micromelia Syndrome
Micromelia, Absent thumb, Absent radius, Micrognathia, Short tibia, Humeroradial synostosis, Miss... OMIM:251230
Fatco Syndrome
Finger syndactyly, Short stature, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absen... ORPHA:2492
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Postnatal growth retardation, Metaphyseal widening, Coxa vara, Femo... OMIM:608940
Microphthalmia With Limb Anomalies
Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of... ORPHA:1106
Stuve-Wiedemann Syndrome 1
Micrognathia, Tibial bowing, Femoral bowing, Knee flexion contracture, Short tibia, Short phalanx... OMIM:601559
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Cyanosis, Lung abscess, Pneumonia, Intraalveolar phospholipid a... OMIM:610910
Bent Bone Dysplasia Syndrome 2
Ulnar deviation of the hand, Bowed humerus, Short tibia, Ulnar bowing, Femoral bowing, Short ster... OMIM:620076
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Short stature, Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bil... OMIM:119800
Asbestos Intoxication
Cyanosis, Lung adenocarcinoma, Atelectasis, Pleural thickening, Abnormal pulmonary interstitial m... ORPHA:2302
Femoral-Facial Syndrome
Short femur, Short stature, Maternal diabetes, Micrognathia, Coxa vara, Abnormal fibula morpholog... ORPHA:1988
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow... OMIM:602111
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... OMIM:113310
Weismann-Netter Syndrome
Severe short stature, Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibula... OMIM:112350
Acute Interstitial Pneumonia
Cyanosis, Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Atelect... ORPHA:79126
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Recurrent lower respiratory tract infections, R... OMIM:616726
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Recurrent bronchitis OMIM:300455
Shox-Related Short Stature
Short stature, Micrognathia, Tibial bowing, Short foot, Genu valgum, Forearm undergrowth, Lower l... ORPHA:314795
Surfactant Metabolism Dysfunction, Pulmonary, 2
Cyanosis, Spontaneous pneumothorax, Nonspecific interstitial pneumonia, Intralobular septal thick... OMIM:610913
Atelosteogenesis Type Iii
Absent humerus, Epiphyseal stippling of the humerus, Short tubular bones of the hand, Abnormality... ORPHA:56305
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Short stature, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal wide... OMIM:613091
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A... ORPHA:2378
Tricuspid Atresia
Pulmonary artery atresia, Cyanosis ORPHA:1209
Tibial Hemimelia
Absent tibia OMIM:275220
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:619466
Ciliary Dyskinesia, Primary, 21
Atelectasis, Recurrent pneumonia, Bronchiectasis OMIM:615294
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis ORPHA:91130
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Short femur, Sandal gap, Rhizomelia, Hypoplasia of the radius, Short ribs, Talipes... OMIM:607143
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla... OMIM:227270
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Micrognathia, Postnatal growth retardation, Precocious pube... ORPHA:254531
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of the legs, Metaph... ORPHA:2502
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
Grant Syndrome
Micrognathia, Down-sloping shoulders, Tibial bowing OMIM:138930
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Short stature, Absent radius, Ulnar bowing, Split... OMIM:171480
Congenital Pulmonary Lymphangiectasia
Growth delay, Pleural effusion, Cyanosis ORPHA:2414
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Insulin-Like Growth Factor I Deficiency
Decreased serum insulin-like growth factor 1, Short stature, Elevated circulating growth hormone ... OMIM:608747
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, ... OMIM:616300
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Intrauterine growth retardation, Short thumb OMIM:609054
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Short stature, Bowing of the legs, Trapezoidal distal femoral condy... OMIM:307800
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Hand monoda... OMIM:609945
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Cortical thickening of long bone diaphyses, Tibial bowing OMIM:166740
Saul-Wilson Syndrome
Enlarged epiphyses, Short metacarpal, Short stature, Pseudoepiphyses of the metacarpals, Coxa val... OMIM:618150
Autosomal Recessive Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Postnatal growth retardation, Small hand, Gro... ORPHA:93324
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Growth delay, Cyanosis OMIM:250800
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis ORPHA:71277
Bronchopulmonary Dysplasia
Atelectasis, Abnormal lung morphology, Pulmonary sequestration, Hyperoxemia, Emphysema ORPHA:70589
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Cyanosis, Pneumothorax, Hypoxemia, Pulmonary hypoplasia, Abnorm... ORPHA:2257
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Mesomelia, Ulnar ... OMIM:164900
Microphthalmia With Limb Anomalies
Toe syndactyly, Sandal gap, Postnatal growth retardation, Capitate-hamate fusion, 2-3 toe cutaneo... OMIM:206920
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Acrofacial Dysostosis, Rodríguez Type
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gird... ORPHA:1788
Alpha-1-Antitrypsin Deficiency
Jaundice, Emphysema ORPHA:60
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Buerger Disease
Acrocyanosis ORPHA:36258
Omodysplasia 1
Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Fibula... OMIM:258315
Dyggve-Melchior-Clausen Disease
Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bowing, Narrow... OMIM:223800
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Radial bowing, ... OMIM:210720
Eiken Syndrome
Short stature, Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular... OMIM:600002
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Epiphyseal dysplasia, Metaphyseal dysplasia, Decreased response to growth hormone stimulation tes... OMIM:614732
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Orofaciodigital Syndrome Type 2
Finger syndactyly, Short stature, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first ... ORPHA:2751
Boomerang Dysplasia
Absent radius, Severe short stature, Hypoplastic iliac body, Fibular aplasia OMIM:112310
High Altitude Pulmonary Edema
Hypoxemia, Cyanosis, Pulmonary edema ORPHA:330012
C1Q Deficiency 2
Atelectasis, Bronchiectasis, Facial erythema, Vasculitis in the skin, Recurrent lower respiratory... OMIM:620321
Meconium Aspiration Syndrome
Atelectasis, Pneumothorax, Hypoxemia, Aspiration pneumonia, Intrauterine growth retardation ORPHA:70588
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Decreased serum insulin-like growth factor 1, Short stature, Postnatal growth retardation, Thyroi... OMIM:618985
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Neurodegeneration And Seizures Due To Copper Transport Defect
Short tibia, Short femur, Talipes equinovarus OMIM:620306
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... ORPHA:3320
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Bowing of the long bones, Radial bowing, Micrognathia, Abnormality of the lower limb, Abnormal fi... ORPHA:3035
Kniest Dysplasia
Hip contracture, Rhizomelia, Dumbbell-shaped long bone, Delayed epiphyseal ossification, Dispropo... OMIM:156550
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Micrognathia, Tibial bowing, Hypoplastic iliac wing, Small proximal tibial epiphyses, Intrauterin... ORPHA:96334
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Postaxial polydactyly, Micrognathia, Wide anterior fontanel, Preaxial polydactyly, Hypoplastic pu... OMIM:617925
Congenital Heart Block
Intrauterine growth retardation, Pleural effusion, Cyanosis ORPHA:60041
Pulmonary Capillary Hemangiomatosis
Cyanosis, Pulmonary edema, Diffuse alveolar hemorrhage, Pulmonary capillary hemangiomatosis, Hypo... ORPHA:199241
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Tapered finger, Postnatal growth retardation, Hip dysplasia, Talipes equinovarus, Clinodactyly of... OMIM:617219
Acromelic Frontonasal Dysostosis
Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Polydactyly, Ta... OMIM:603671
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema, Facial erythema OMIM:618307
Laryngotracheoesophageal Cleft
Recurrent respiratory infections, Cyanosis ORPHA:2004
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Postnatal growth retardation, Disproportionate short-trunk short stature, Coxa vara, Hypoplasia o... OMIM:313400
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ... OMIM:263520
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short palm, Short metacarpal, Single interphalangeal crease of fifth finger, Postnatal growth ret... OMIM:611717
Respiratory Distress Syndrome In Premature Infants
Atelectasis, Pulmonary edema OMIM:267450
Familial Nasal Acilia
Atelectasis, Recurrent upper respiratory tract infections, Bronchiectasis ORPHA:922
Sarcoidosis, Susceptibility To, 2
Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, Hypoxemia, Pleural effu... OMIM:612387
Caffey Disease
Tibial bowing, Periosteal thickening of long tubular bones, Bowing of the legs OMIM:114000
Cryptogenic Organizing Pneumonia
Hypoxemia, Pneumothorax, Cyanosis ORPHA:1302
Atelosteogenesis, Type I
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta... OMIM:108720
Restrictive Dermopathy 2
Intrauterine growth retardation, Cyanosis OMIM:619793
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia OMIM:165590
Hereditary Methemoglobinemia
Cyanosis ORPHA:621
Encephalopathy, Ethylmalonic
Death in infancy, Acrocyanosis, Petechiae OMIM:602473
Hereditary Bullous Dystrophy, Macular Type
Growth delay, Acrocyanosis, Short stature, Pneumonia ORPHA:1867
Autoimmune Pulmonary Alveolar Proteinosis
Hypoxemia, Cyanosis, Crazy paving pattern, Intraalveolar phospholipid accumulation ORPHA:747
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Micrognathia, Postnatal growth retardation, Wide anterior fontanel, Ulnar... OMIM:619135
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Hypersensitivity pneumonitis, Bronchiectasis, Hypoxemia, Honeycomb l... ORPHA:79127
Craniosynostosis With Fibular Aplasia
Fibular aplasia OMIM:218550
Seckel Syndrome 1
Ivory epiphyses, 11 pairs of ribs, Pes planus, Sandal gap, Abnormal finger flexion crease, Propor... OMIM:210600
Laryngotracheal Angioma
Cyanosis ORPHA:137935
Waardenburg Syndrome Type 3
Atelectasis, Acrocyanosis ORPHA:896
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Intrauterine growth retardation, Cyanotic episode ORPHA:284417
Mitochondrial Phosphate Carrier Deficiency
Cyanosis OMIM:610773
Hypoadrenocorticism, Familial
Cyanosis OMIM:240200
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema, Short stature OMIM:210050
Adult Acute Respiratory Distress Syndrome
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... ORPHA:70578
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... OMIM:211350
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Postnatal growth retardation, Decre... ORPHA:453533
Fibrochondrogenesis 1
Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia... OMIM:228520
Idiopathic Chronic Eosinophilic Pneumonia
Atelectasis, Hypersensitivity pneumonitis, Hypoxemia, Pleural effusion, Generalized abnormality o... ORPHA:2902
Acro-Renal-Mandibular Syndrome
Finger syndactyly, Hypoplasia of the ulna, Hypoplastic scapulae, Micrognathia, Split hand, Hypopl... ORPHA:958
Benign Familial Neonatal Epilepsy
Circumoral cyanosis ORPHA:1949
Tetrasomy 5P
Postnatal growth retardation, Recurrent respiratory infections, Cyanosis, Pulmonary hypoplasia ORPHA:3309
Bare Lymphocyte Syndrome, Type I
Bronchiolitis, Emphysema, Bronchiectasis, Recurrent bronchitis OMIM:604571
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Recurrent respiratory infections, Atelectasis, Hypoxemia, Elevated bronchoalveolar lavage fluid n... OMIM:610978
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Talipes, Micromelia, Aplasia of the ulna, Micrognathia, ... ORPHA:2879
Acquired Methemoglobinemia
Hypoxemia, Cyanosis ORPHA:464453
Acute Lung Injury
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Abnormali... ORPHA:178320
Birt-Hogg-Dubé Syndrome
Emphysema, Pneumothorax, Pulmonary sequestration ORPHA:122
Idiopathic Bronchiectasis
Respiratory tract infection, Emphysema, Bronchiectasis, Acute infectious pneumonia, Recurrent low... ORPHA:60033
Chronic Pneumonitis Of Infancy
Hypoxemia, Cyanosis ORPHA:91359
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis, Short stature, Growth delay, Pulmonary artery hypoplasia, Delayed puberty ORPHA:2326
Myotubular Myopathy With Abnormal Genital Development
Neonatal death, Death in infancy, Atelectasis OMIM:300219
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Growth delay, Acrocyanosis OMIM:614407
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis ORPHA:98913
Congenital Fibrinogen Deficiency
Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage ORPHA:335
Choanal Atresia
Recurrent respiratory infections, Cyanosis ORPHA:137914
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasia/Hypoplasia of the mandible, ... ORPHA:85165
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Atelectasis, Pulmonary fibrosis ORPHA:254361
Schneckenbecken Dysplasia
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... ORPHA:3144
Hyperimmunoglobulinemia D With Periodic Fever
Erythema, Growth delay, Urticaria, Acrocyanosis, Purpura ORPHA:343
Campomelic Dysplasia
11 pairs of ribs, Bowing of the long bones, Short stature, Small abnormally formed scapulae, Micr... ORPHA:140
Omodysplasia 2
Short humerus, Micrognathia, Fibular hypoplasia, Hypoplastic distal humeri, Rhizomelic arm shorte... OMIM:164745
Pulmonary Arteriovenous Malformation
Cyanosis, Telangiectasia, Hypoxemia, Pleural empyema, Pulmonary hemorrhage, Hemothorax ORPHA:2038
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Atelectasis, Recurrent pneumonia ORPHA:3348
Mesomelia-Synostoses Syndrome
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... OMIM:600383
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Bronchogenic Cyst
Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Atelectasis, Bronchogenic cyst ORPHA:2357
Double Outlet Right Ventricle
Pulmonary artery atresia, Cyanosis, Short stature ORPHA:3426
Hsd10 Disease, Infantile Type
Cyanosis ORPHA:391428
Pulmonary Alveolar Microlithiasis
Cyanosis, Bronchitis, Respiratory tract infection, Pleural thickening, Pneumothorax, Bronchiectas... ORPHA:60025
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Short stature, Early ossification of capital femoral epiphyses, Cone-shap... OMIM:208500
Congenital Tricuspid Valve Dysplasia
Hypoxemia, Intrauterine growth retardation, Cyanosis, Anomalous pulmonary venous return ORPHA:555874
Recurrent Respiratory Papillomatosis
Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn... ORPHA:60032
Occipital Horn Syndrome
Pes planus, Brachydactyly, Down-sloping shoulders, Aplastic clavicle, Aplasia/hypoplasia of the h... ORPHA:198
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Cyanosis, Anomalous pulmonary venous return ORPHA:860
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Micrognathia, Missing ribs, Split h... OMIM:200980
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased circulating interleukin 6 concentration, Abnormality of interleukin secretion, Abnormal... ORPHA:542323
Dravet Syndrome
Cyanotic episode ORPHA:33069
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac... OMIM:274000
Acromelic Frontonasal Dysplasia
Anterior pituitary hypoplasia, Patellar hypoplasia, Talipes equinovarus, Preaxial foot polydactyl... ORPHA:1827
Chiari Malformation Type Ii
Cyanosis OMIM:207950
Cousin Syndrome
Hypoplastic scapulae, Rhizomelia, Hypoplastic ischia, Micrognathia, 4-5 toe syndactyly, Dispropor... OMIM:260660
Aicardi-Goutieres Syndrome 1
Short stature, Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura OMIM:225750
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis ORPHA:444013
Hydrolethalus Syndrome 1
Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx of ha... OMIM:236680
Macrophage Activation Syndrome
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... ORPHA:158061
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis OMIM:261680
Isolated Right Ventricular Hypoplasia
Hypoxemia, Cyanosis ORPHA:439
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis ORPHA:3304
Congenital Tracheomalacia
Cyanosis, Pneumonia, Partial anomalous pulmonary venous return, Pneumothorax, Bronchiectasis, Rec... ORPHA:95430
Campomelic Dysplasia
Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor... OMIM:114290
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Peribronchovascular interstitial thickening, Pulmonary situs ... ORPHA:244
Eosinophilic Fasciitis
Acrocyanosis ORPHA:3165
Orofaciodigital Syndrome Vi
11 pairs of ribs, Brachydactyly, Toe syndactyly, Short stature, Short femur, Mesoaxial hand polyd... OMIM:277170
Autosomal Dominant Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Short stature, Postnatal growth retardation, ... ORPHA:93325
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Cyanosis, Partial anomalous pulmonary venous return OMIM:617478
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t... OMIM:276820
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Meckel Syndrome 14
Pneumothorax, Cyanosis, Pulmonary hypoplasia OMIM:619879
Absence Of The Pulmonary Artery
Recurrent respiratory infections, Cyanosis, Recurrent pneumonia, Bronchiectasis, Growth delay, Pu... ORPHA:980
Heterotaxy, Visceral, 7, Autosomal
Pulmonary artery atresia, Pulmonary artery hypoplasia, Cyanosis, Total anomalous pulmonary venous... OMIM:616749
Congenital Myasthenic Syndrome
Recurrent respiratory infections, Cyanosis ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Recurrent respiratory infections, Cyanosis ORPHA:98914
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Cyanosis, Aortopulmonary window, Pulmonary hypoplasia, Pulmonar... ORPHA:99050
Cutis Laxa, Autosomal Recessive, Type Ic
Death in infancy, Progeroid facial appearance, Atelectasis, Recurrent pneumonia, Growth delay, Pu... OMIM:613177
Eosinophilic Granulomatosis With Polyangiitis
Recurrent intrapulmonary hemorrhage, Cutis marmorata, Abnormal pleura morphology, Urticaria, Acro... ORPHA:183
Sepsis In Premature Infants
Jaundice, Cyanosis, Petechiae, Purpura ORPHA:90051
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Death in infancy, Recurrent lower respiratory tract infections, Cyanosis, Death in childhood OMIM:618426
Cardiac Valvular Dysplasia 2
Central cyanosis, Pulmonary artery dilatation OMIM:620067
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Short ... OMIM:304120
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis OMIM:619580
Criss-Cross Heart
Cyanosis ORPHA:1461
Ciliary Dyskinesia, Primary, 1
Pneumonia, Atelectasis, Bronchiectasis, Recurrent bronchitis OMIM:244400
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis ORPHA:488627
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis ORPHA:159
Orofaciodigital Syndrome Type 4
Finger syndactyly, Severe short stature, Camptodactyly of finger, Micromelia, Micrognathia, Preax... ORPHA:2753
Autosomal Dominant Hyper-Ige Syndrome
Atelectasis, Generalized abnormality of skin, Recurrent respiratory infections ORPHA:2314
Familial Dysautonomia
Growth delay, Recurrent respiratory infections, Acrocyanosis, Abnormal pleura morphology ORPHA:1764
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Premature graying of hair, Emphysema, Pulmonary fibrosis OMIM:620365
Truncus Arteriosus
Cyanosis, Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery stenosi... ORPHA:3384
Tarp Syndrome
Intrauterine growth retardation, Cyanosis, Pulmonary hypoplasia ORPHA:2886
Esophageal Atresia
Recurrent respiratory infections, Cyanosis, Bronchitis, Growth delay, Pulmonary hypoplasia ORPHA:1199
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Growth delay, Acrocyanosis, Recurrent infections due to aspiration OMIM:223900
Ulbright-Hodes Syndrome
Short humerus, Short metacarpal, Maternal diabetes, Micrognathia, Postnatal growth retardation, H... ORPHA:3404
Aregenerative Anemia
Abnormality of interleukin secretion ORPHA:101096
Ethylene Glycol Poisoning
Cyanosis, Pulmonary edema ORPHA:31826
Atrial Septal Defect, Coronary Sinus Type
Cyanosis, Pneumonia, Anomalous pulmonary venous return ORPHA:99104
Fucosidosis
Acrocyanosis, Vascular skin abnormality ORPHA:349
Complete Atrioventricular Septal Defect
Cyanosis, Recurrent pneumonia ORPHA:1329
Mitochondrial Complex I Deficiency, Nuclear Type 1
Growth delay, Death in infancy, Cyanosis OMIM:252010
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Atelectasis, Abnormal pulmonary interstitial morphology, Bronchiectasis, Recurrent lower respirat... OMIM:620233
Atrial Septal Defect, Ostium Primum Type
Recurrent respiratory infections, Pulmonary artery dilatation, Cyanosis ORPHA:99106
Farber Disease
Atelectasis, Recurrent upper respiratory tract infections, Short stature, Nodular pattern on pulm... ORPHA:333
Congenital Tracheal Stenosis
Cyanosis, Abnormal lung morphology, Abnormal lung lobation, Pulmonary artery atresia, Anomalous o... ORPHA:141127
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cyanosis, Telangiectasia of the skin, Nail bed telangiectasia, Misca... OMIM:187300
Glycogen Storage Disease Of Heart, Lethal Congenital
Pleural effusion, Cyanosis, Pulmonary edema OMIM:261740
Cutis Laxa, Autosomal Dominant 1
Prematurely aged appearance, Progeroid facial appearance, Poor wound healing, Bronchiectasis, Emp... OMIM:123700
Charge Syndrome
Hypoparathyroidism, Hypoplasia of the ulna, Hypogonadotropic hypogonadism, Decreased response to ... OMIM:214800
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Cyanosis, Pulmonary arteriovenous malformation, Lip telangiectasia, ... OMIM:610655
Double Outlet Left Ventricle
Pulmonary artery stenosis, Cyanosis ORPHA:3427
Parenteral Nutrition-Associated Cholestasis
Abnormality of cytokine secretion ORPHA:567983
Short-Rib Thoracic Dysplasia 12
Neonatal death, Intrauterine growth retardation, Atelectasis, Pulmonary hypoplasia OMIM:269860
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Repeated pneumothoraces, Postnatal growth retardation, Atelectasis, Pulmonary hypoplasia, Bruisin... ORPHA:536467
Cranioectodermal Dysplasia 1
Broad toe, Brachydactyly, Short humerus, Rhizomelia, Broad distal phalanges of all fingers, Short... OMIM:218330
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Cyanosis, Nail bed telangiectasia, Pulmonary arteriovenous malformat... OMIM:600376
Osteopathia Striata With Cranial Sclerosis
Paranasal sinus hypoplasia, Arachnodactyly, Short stature, Micrognathia, Osteopathia striata, Fib... OMIM:300373
Histiocytoid Cardiomyopathy
Cyanosis, Pulmonary edema ORPHA:137675
Poems Syndrome
Pleural effusion, Acrocyanosis ORPHA:2905
Dermatomyositis
Recurrent respiratory infections, Telangiectasia of the skin, Erythema, Abnormal pulmonary inters... ORPHA:221
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis OMIM:617239
Whim Syndrome
Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract infections... ORPHA:51636
Pitt-Hopkins Syndrome
Growth delay, Acrocyanosis, Postnatal growth retardation ORPHA:2896
Kinsship Syndrome
Pes planus, Short stature, Coxa valga, Micrognathia, Hip dislocation, Fibular hypoplasia, Polydac... OMIM:619297
Myasthenia Gravis
Acrocyanosis ORPHA:589
Goodpasture Syndrome
Cyanosis, Nodular pattern on pulmonary HRCT, Hemosiderin-laden macrophages in bronchoalveolar flu... OMIM:233450
Unilateral Polymicrogyria
Cyanosis, Pulmonary arteriovenous malformation ORPHA:268943
Lymphangioleiomyomatosis
Recurrent respiratory infections, Atelectasis, Pneumothorax, Chylothorax, Emphysema, Pulmonary ly... ORPHA:538
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Cyanosis, Short stature, Recurrent upper respiratory tract infections, Delayed puberty, Recurrent... ORPHA:293987
Atrial Septal Defect, Ostium Secundum Type
Cyanosis, Pneumonia ORPHA:99103
Lujo Hemorrhagic Fever
Ecchymosis, Atelectasis, Purpura ORPHA:319213
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Atelectasis, Pulmonary artery stenosis, Recurrent pneumonia, Br... OMIM:615067
Heterotaxy, Visceral, 1, X-Linked
Bilateral trilobed lung, Cyanosis, Total anomalous pulmonary venous return OMIM:306955
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Atelectasis, Recurrent respiratory infections, Pulmonary fibrosis, Death in childhood OMIM:618278
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Abnormality of chemokine secretion, Abnormalit... ORPHA:544482
Postinfectious Vasculitis
Palpable purpura, Cutis marmorata, Pneumonia, Vasculitis in the skin, Acrocyanosis, Recurrent str... ORPHA:48435
Ectodermal Dysplasia And Immunodeficiency 2
Defective production of NFKB1-dependent cytokines OMIM:612132
Ehlers-Danlos Syndrome, Vascular Type
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Short stature, Repeated pneumothoraces, Nod... OMIM:130050
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Atelectasis, Recurrent lower respiratory tract infections ORPHA:258
Hyperoxaluria, Primary, Type I
Acrocyanosis, Cutis marmorata OMIM:259900
Cardiac Valvular Dysplasia 1
Pulmonary artery atresia, Cyanosis OMIM:212093
Hutchinson-Gilford Progeria Syndrome
Prominent superficial blood vessels, Cyanosis, Delayed menarche, Premature skin wrinkling, Genera... ORPHA:740
Aortic Arch Interruption
Cyanosis, Aortopulmonary window ORPHA:2299
Aicardi-Goutières Syndrome
Acrocyanosis, Short stature, Cutis marmorata, Prolonged neonatal jaundice ORPHA:51
Oculocerebrorenal Syndrome Of Lowe
Death in infancy, Recurrent respiratory infections, Short stature, Atelectasis, Delayed puberty ORPHA:534
22Q11.2 Deletion Syndrome
Short stature, Atelectasis, Abnormal lung lobation, Intrauterine growth retardation, Purpura ORPHA:567
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Short stature, Decreased response to growth hormone stimulation test, Micrognathia, Small hand, F... ORPHA:444077
Granulomatous Disease, Chronic, X-Linked
Atelectasis, Pleural effusion, Recurrent pneumonia OMIM:306400
Primary Hyperoxaluria
Acrocyanosis, Cutis marmorata ORPHA:416
Relapsing Polychondritis
Atelectasis, Erythema, Purpura ORPHA:728
Zygomycosis
Acute infectious pneumonia, Atelectasis, Pleural effusion, Pneumothorax ORPHA:73263
Eisenmenger Syndrome
Hypoxemia, Cyanosis, Aortopulmonary window ORPHA:97214
Congenital Total Pulmonary Venous Return Anomaly
Recurrent respiratory infections, Cyanosis, Pulmonary artery stenosis, Supracardiac total anomalo... ORPHA:99125
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory tract infection, Atelectasis ORPHA:365
Classical Ehlers-Danlos Syndrome
Prematurely aged appearance, Poor wound healing, Ecchymosis, Acrocyanosis, Fragile skin, Bruising... ORPHA:287
Congenitally Corrected Transposition Of The Great Arteries
Pulmonary artery atresia, Cyanosis ORPHA:216694
Chand Syndrome
Atelectasis ORPHA:1401
Coffin-Lowry Syndrome
Acrocyanosis, Short stature, Cutis marmorata OMIM:303600
Generalized Arterial Calcification Of Infancy
Cyanosis ORPHA:51608
Digeorge Syndrome
Atelectasis, Recurrent pneumonia, Short stature, Recurrent sinusitis OMIM:188400
Hypermobile Ehlers-Danlos Syndrome
Acrocyanosis ORPHA:285

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 Mex3c

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 Mex3c.

No publications found that use IMPC mice or data for Mex3c.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Mex3ctm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Mex3ctm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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