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Gene: Tmem86a MGI:1915143

Gene Summary

Name:

transmembrane protein 86A

Synonyms:

1810054O13Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal lymph node morphology	Tmem86a^{tm1b(KOMP)Mbp}	HOM	Late adult	0.00
increased blood urea nitrogen level	Tmem86a^{tm1b(KOMP)Mbp}	HOM	Late adult	3.31×10^-05
abnormal seminal vesicle morphology	Tmem86a^{tm1b(KOMP)Mbp}	HOM	Late adult	0.00
short tibia	Tmem86a^{tm1b(KOMP)Mbp}	HOM	Early adult	1.51×10^-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Forepaw

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

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X-ray

XRay Images Hind Leg and Hip

10 Images

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Eye Morphology

Images Slit Lamp

1 Images

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Human diseases caused by Tmem86a 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.

Human diseases associated with Tmem86a (0 diseases)
Human diseases predicted to be associated with Tmem86a (372 diseases)

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

The table below shows human diseases predicted to be associated to Tmem86a by phenotypic similarity.

Disease	Matching phenotypes	Source
Blount Disease, Infantile	Genu varum, Abnormality of the proximal tibial epiphysis	OMIM:188700
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia	OMIM:246570
Tibial Hemimelia	Absent tibia	OMIM:275220
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Tibial Torsion, Bilateral Medial	Bowing of the legs, Tibial torsion	OMIM:188800
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Pseudoarthrosis	OMIM:156230
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida...	OMIM:201250
Blount Disease	Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis...	ORPHA:2768
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
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ...	OMIM:112910
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck...	OMIM:249700
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Mesomelic Dysplasia, Savarirayan Type	Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat...	OMIM:605274
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia...	ORPHA:988
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Metaphyseal Anadysplasia 2	Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit...	OMIM:613073
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Hypoplastic Femurs And Pelvis	Short femur, Hypoplastic pelvis	OMIM:619545
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small...	ORPHA:93356
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ...	OMIM:612447
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen	OMIM:620085
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy	OMIM:616126
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short...	OMIM:607778
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Hepatic Venoocclusive Disease With Immunodeficiency	Absence of lymph node germinal center	OMIM:235550
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
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
Hereditary Progressive Mucinous Histiocytosis	Lymphadenopathy	ORPHA:158025
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Follicular hyperplasia	ORPHA:60026
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction	Short metacarpal, Short hallux, Hallux varus, Short thumb, Short metatarsal, Hitchhiker thumb, Sh...	OMIM:112450
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor...	ORPHA:2756
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Acromesomelic Dysplasia 2B	Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta...	OMIM:228900
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Fibular Aplasia-Ectrodactyly Syndrome	Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula	ORPHA:1118
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig...	ORPHA:85170
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased...	ORPHA:93322
Kimura Disease	Abnormal salivary gland morphology, Lymphadenopathy, Follicular hyperplasia	ORPHA:482
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Osteofibrous Dysplasia, Susceptibility To	Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
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
Combined Oxidative Phosphorylation Deficiency 34	Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Increased blood ur...	OMIM:617872
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal...	OMIM:201170
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Lymphadenopathy, Follicular hyperplasia	OMIM:619126
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Metaphyseal Chondrodysplasia, Schmid Type	Broad femoral neck, Distal tibial bowing, Metaphyseal chondrodysplasia, Metaphyseal widening, Met...	OMIM:156500
Eiken Syndrome	Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip m...	ORPHA:79106
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia...	ORPHA:3344
Kerion Celsi	Lymphadenopathy	ORPHA:499
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi...	OMIM:258860
Burkitt Lymphoma	Abnormality of the spleen, Abnormality of the ovary, Hyperuricemia, Abnormal lymph node morphology	ORPHA:543
Fatco Syndrome	Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma...	ORPHA:2492
Grant Syndrome	Tibial bowing, Down-sloping shoulders, Micrognathia	OMIM:138930
Metaphyseal Dysplasia, Braun-Tinschert Type	Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle...	ORPHA:85188
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul...	ORPHA:2634
Osteosclerosis With Ichthyosis And Fractures	Femoral bowing, Cortical thickening of long bone diaphyses, Tibial bowing	OMIM:166740
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F...	ORPHA:166016
Patella Aplasia-Hypoplasia	Patellar aplasia, Patellar hypoplasia	OMIM:168860
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla...	OMIM:227270
Interstitial Nephritis, Karyomegalic	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:614817
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha...	OMIM:268305
Atelosteogenesis Type Iii	Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han...	ORPHA:56305
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A...	ORPHA:2378
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Immunodeficiency With Hyper-Igm, Type 5	Epididymitis, Lymphadenopathy	OMIM:608106
Microcephaly-Micromelia Syndrome	Micromelia, Micrognathia, Absent thumb, Absent radius, Missing ribs, Humeroradial synostosis, For...	OMIM:251230
46,Xy Sex Reversal 4	Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Agonadism, Sex rev...	OMIM:154230
Microphthalmia With Limb Anomalies	Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of...	ORPHA:1106
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
Laryngeal Neuroendocrine Tumor	Elevated carcinoembryonic antigen level, Chronic noninfectious lymphadenopathy, Adrenocorticotrop...	ORPHA:100083
Acromesomelic Dysplasia 3	Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st...	OMIM:609441
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow...	OMIM:602111
Stuve-Wiedemann Syndrome 1	Micrognathia, Femoral bowing, Knee flexion contracture, Tibial bowing, Short tibia, Short phalanx...	OMIM:601559
Orofaciodigital Syndrome Ix	Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly	OMIM:258865
Bent Bone Dysplasia Syndrome 2	Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Short sternum, Short ri...	OMIM:620076
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ...	OMIM:119800
Slc35A2-Cdg	Camptodactyly of finger, Coxa valga, Metatarsus adductus, Abnormal long bone morphology, Talipes ...	ORPHA:356961
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Goiter, Nodular goiter, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:97290
Craniosynostosis With Fibular Aplasia	Fibular aplasia	OMIM:218550
Immunodeficiency 104	Splenomegaly, Lymphadenopathy	OMIM:608971
Shox-Related Short Stature	Micrognathia, Genu valgum, Short foot, Tibial bowing, Forearm undergrowth, Lower limb undergrowth...	ORPHA:314795
Granulomatous Slack Skin	Hypercalcemia, Abnormal lymph node morphology	ORPHA:33111
Weismann-Netter Syndrome	Fibular bowing, Squared iliac bones, Anterior tibial bowing, Lateral femoral bowing	OMIM:112350
Familial Papillary Or Follicular Thyroid Carcinoma	Goiter, Nodular goiter, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:319487
Congenital Disorder Of Glycosylation, Type Ig	Short humerus, Short femur, Rhizomelia, Sandal gap, Hypoplasia of the radius, Short ribs, Talipes...	OMIM:607143
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Mast Cell Sarcoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:66661
Autoinflammation With Episodic Fever And Lymphadenopathy	Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Mesomelia, Ulnar ...	OMIM:164900
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of the legs, Metaph...	ORPHA:2502
Orofaciodigital Syndrome X	Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia	OMIM:165590
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ...	OMIM:613091
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Metaphyseal widening, Coxa vara, Tibial bowing, Femoral bowing, Nar...	OMIM:608940
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy...	OMIM:609945
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Drug-Induced Lupus Erythematosus	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:231111
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia	OMIM:613845
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612924
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Lymphadenopathy...	OMIM:613101
Femoral-Facial Syndrome	Short femur, Micrognathia, Coxa vara, Abnormal fibula morphology, Abnormal pelvic girdle bone mor...	ORPHA:1988
Alpha-Heavy Chain Disease	Splenomegaly, Hypocalcemia, Lymphadenopathy	ORPHA:100025
Hemophagocytic Lymphohistiocytosis, Familial, 4	Splenomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Lymphadenopathy	OMIM:603552
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612926
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli...	OMIM:171480
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Fish-Eye Disease	Splenomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy	ORPHA:79292
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, ...	OMIM:616300
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:444463
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus...	ORPHA:3320
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612925
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:86893
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abnormality of the lymphatic system, Abnormal testis morphology, Elevated circulating C-reactive ...	ORPHA:54251
Orthostatic Hypotension 1	Hypomagnesemia, Reduced circulating prolactin concentration, Increased blood urea nitrogen	OMIM:223360
Uremic Pruritus	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Omodysplasia 1	Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Limite...	OMIM:258315
Neurodegeneration And Seizures Due To Copper Transport Defect	Short tibia, Short femur, Talipes equinovarus	OMIM:620306
Orofaciodigital Syndrome Type 2	Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos...	ORPHA:2751
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gird...	ORPHA:1788
Immunodeficiency 103, Susceptibility To Fungal Infections	Decreased serum iron, Lymphadenopathy	OMIM:212050
Autoimmune Lymphoproliferative Syndrome, Type Iii	Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Follicular hy...	OMIM:615559
Caffey Disease	Tibial bowing, Periosteal thickening of long tubular bones, Bowing of the legs	OMIM:114000
Immunodeficiency 27A	Splenomegaly, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly, Hypoalbuminemia	OMIM:209950
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Elevated circulating C-reactive protein concentration, Lymphadenopathy	OMIM:611762
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Lymphadenopathy	OMIM:615513
Microphthalmia With Limb Anomalies	Toe syndactyly, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous syndactyly, Postaxial hand ...	OMIM:206920
Hereditary Renal Hypouricemia	Hypouricemia, Increased blood urea nitrogen	ORPHA:94088
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Lymphadenopathy, Fluctuating splenomegaly	OMIM:619220
Immunodeficiency 109 With Lymphoproliferation	Splenomegaly, Generalized lymphadenopathy, Hypertriglyceridemia	OMIM:620282
Boomerang Dysplasia	Absent radius, Hypoplastic iliac body, Fibular aplasia	OMIM:112310
Immunodeficiency 76	Splenomegaly, Lymphadenopathy	OMIM:619164
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Hepatosplenomegaly, Lymphadenopathy	OMIM:618982
Acromelic Frontonasal Dysostosis	Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Polydactyly, Ta...	OMIM:603671
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:235400
Mu-Heavy Chain Disease	Splenomegaly, Lymphadenopathy	ORPHA:100024
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Bowing of the long bones, Radial bowing, Micrognathia, Abnormality of the lower limb, Abnormal fi...	ORPHA:3035
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Postaxial polydactyly, Micrognathia, Preaxial polydactyly, Hypoplastic pubic bone, Fibular hypopl...	OMIM:617925
Dyggve-Melchior-Clausen Disease	Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bowing, Narrow...	OMIM:223800
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ...	OMIM:263520
Eiken Syndrome	Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl...	OMIM:600002
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	OMIM:300853
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphadenopathy, Follicular hyperplasia	OMIM:619846
Immunodeficiency, Common Variable, 2	Splenomegaly, Follicular hyperplasia, Lymphadenopathy	OMIM:240500
Immunodeficiency 64 With Lymphoproliferation	Splenomegaly, Mediastinal lymphadenopathy, Cervical lymphadenopathy, Lymphadenopathy, Hepatosplen...	OMIM:618534
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center	OMIM:606843
Generalized Eruptive Histiocytosis	Lymphadenopathy	ORPHA:157991
Rosaï-Dorfman Disease	Lymphadenopathy	ORPHA:158014
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Micrognathia, Tibial bowing, Hypoplastic iliac wing, Short tibia, Small proximal tibial epiphyses...	ORPHA:96334
Thrombotic Thrombocytopenic Purpura, Hereditary	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:274150
Immunodeficiency 52	Splenomegaly, Lymphadenopathy	OMIM:617514
Paternal Uniparental Disomy Of Chromosome 1	Hypercalcemia, Increased blood urea nitrogen	ORPHA:251004
Heme Oxygenase 1 Deficiency	Elevated circulating C-reactive protein concentration, Asplenia, Increased circulating ferritin c...	OMIM:614034
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasia/Hypoplasia of the mandible, ...	ORPHA:85165
Igg4-Related Retroperitoneal Fibrosis	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat...	ORPHA:49041
Cockayne Syndrome Type 1	Cryptorchidism, Male hypogonadism, Increased blood urea nitrogen	ORPHA:90321
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:85450
Desmoplastic Small Round Cell Tumor	Neoplasm of the pancreas, Testicular neoplasm, Mediastinal lymphadenopathy, Ovarian neoplasm, Lym...	ORPHA:83469
Thymic Neuroendocrine Tumor	Hypercalcemia, Chronic noninfectious lymphadenopathy, Pituitary null cell adenoma, Neoplasm of th...	ORPHA:97289
Pfapa Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:42642
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta...	OMIM:108720
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy	OMIM:618987
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat...	OMIM:211350
Dopamine Beta-Hydroxylase Deficiency	Elevated circulating creatinine concentration, Increased blood urea nitrogen	ORPHA:230
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:223900
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Elevated circulating C-reactive protein concentration, Lymphadenopathy	ORPHA:85414
Pancreatoblastoma	Pancreatic calcification, Elevated maternal serum alpha-fetoprotein, Abnormal lymph node morphology	ORPHA:677
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Coxa valg...	OMIM:618150
Immunodeficiency With Hyper-Igm, Type 4	Absence of lymph node germinal center	OMIM:608184
Leukocyte Adhesion Deficiency, Type Iii	Splenomegaly, Abnormal lymph node morphology, Hepatosplenomegaly	OMIM:612840
Caspase 8 Deficiency	Splenomegaly, Lymphadenopathy	OMIM:607271
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Split hand, Hypopl...	ORPHA:958
Immunodeficiency 54	Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopathy	OMIM:609981
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole...	OMIM:267700
Classic Mycosis Fungoides	Splenomegaly, Lymphadenopathy	ORPHA:2584
Tularemia	Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal lymphadenopathy...	ORPHA:3392
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Elevated circulating amyloid A, Lymphadenopathy, Elevated circulating C-reactive protein concentr...	OMIM:619750
Cinca Syndrome	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly	OMIM:607115
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Activated Pi3K-Delta Syndrome	Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	ORPHA:397596
Griscelli Syndrome Type 2	Splenomegaly, Hyperlipidemia, Lymphadenopathy	ORPHA:79477
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absent tonsils, Absence of lymph node germinal center	ORPHA:277
Schnitzler Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:37748
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat...	OMIM:600383
Omodysplasia 2	Short humerus, Micrognathia, Fibular hypoplasia, Hypoplastic distal humeri, Rhizomelic arm shorte...	OMIM:164745
Acquired Hypertrichosis Lanuginosa	Ovarian neoplasm, Lymphadenopathy	ORPHA:2221
Fibrochondrogenesis 1	Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia...	OMIM:228520
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Talipes, Micromelia, Micrognathia, Aplasia of the ulna, ...	ORPHA:2879
Pleural Mesothelioma	Lymphadenopathy	ORPHA:50251
Immunodeficiency 105	Hepatosplenomegaly, Absence of lymph node germinal center	OMIM:619924
Rhabdoid Tumor	Hypercalcemia, Lymphadenopathy	ORPHA:69077
Classic Hodgkin Lymphoma	Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:391
Lymphoproliferative Syndrome, X-Linked, 1	Splenomegaly, Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Lymphadenop...	OMIM:308240
Congenital Toxoplasmosis	Lymphadenopathy	ORPHA:858
Medullary Thyroid Carcinoma	Nodular goiter, Primary hyperparathyroidism, Pheochromocytoma, Lymphadenopathy	ORPHA:1332
Pseudomyxoma Peritonei	Lymphadenopathy	ORPHA:26790
Leishmaniasis	Splenomegaly, Hypoalbuminemia, Lymphadenopathy	ORPHA:507
Occipital Horn Syndrome	Pes planus, Brachydactyly, Down-sloping shoulders, Aplastic clavicle, Aplasia/hypoplasia of the h...	ORPHA:198
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Splenomegaly, Lymphadenopathy	OMIM:150550
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Splenomegaly, Lymphadenopathy	OMIM:618495
Immunodeficiency, Common Variable, 1	Splenomegaly, Lymphadenopathy	OMIM:607594
Roifman Syndrome	Hypogonadotropic hypogonadism, Lymphadenopathy, Hepatosplenomegaly	ORPHA:353298
Thyroid Lymphoma	Goiter, Lymphadenopathy	ORPHA:97285
Indolent Systemic Mastocytosis	Splenomegaly, Lymphadenopathy	ORPHA:98848
Macrophage Activation Syndrome	Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increa...	ORPHA:158061
Cold Agglutinin Disease	Splenomegaly, Lymphadenopathy	ORPHA:56425
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac...	OMIM:274000
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Generalized lymphadenopathy, Aplasia of the thymus, Genital ulcers, Splenomegaly, Lymph node hypo...	OMIM:602450
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Lymphadenopathy	OMIM:619375
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Micrognathia, Missing ribs, Split h...	OMIM:200980
Lymphoproliferative Syndrome 1	Splenomegaly, Increased circulating ferritin concentration, Elevated circulating C-reactive prote...	OMIM:613011
Griscelli Syndrome	Splenomegaly, Abnormal circulating lipid concentration, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:381
Lymphoproliferative Syndrome 2	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly	OMIM:615122
Campomelic Dysplasia	11 pairs of ribs, Bowing of the long bones, Small abnormally formed scapulae, Micrognathia, Hip d...	ORPHA:140
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphadenitis, Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly	ORPHA:911
Anaplastic Thyroid Carcinoma	Goiter, Nodular goiter, Lymphadenopathy	ORPHA:142
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Omenn Syndrome	Hypoproteinemia, Splenomegaly, Hypoplasia of the thymus, Lymphadenopathy	OMIM:603554
Immunodeficiency 97 With Autoinflammation	Hypertriglyceridemia, Splenomegaly, Mediastinal lymphadenopathy, Increased circulating ferritin c...	OMIM:619802
Proteasome-Associated Autoinflammatory Syndrome 2	Elevated circulating C-reactive protein concentration, Lymphadenopathy	OMIM:618048
Immunodeficiency 91 And Hyperinflammation	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly	OMIM:619644
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, L...	OMIM:603553
Roifman Syndrome	Splenomegaly, Lymphadenopathy	OMIM:616651
Immunodeficiency 7	Splenomegaly, Lymphadenopathy	OMIM:615387
Lymphatic Filariasis	Orchitis, Lymphadenitis, Abnormality of the lymphatic system, Epididymitis, Vaginal hydrocele, Ly...	ORPHA:2035
Acromelic Frontonasal Dysplasia	Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia	ORPHA:1827
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Early ossification of capital femoral epiphyses, Cone-shaped epiphyses of...	OMIM:208500
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Lymphadenopathy, Hepatosplenomegaly	OMIM:618935
Deafness-Lymphedema-Leukemia Syndrome	Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:3226
Autoimmune Lymphoproliferative Syndrome, Type Iia	Splenomegaly, Follicular hyperplasia, Chronic noninfectious lymphadenopathy, Lymphadenopathy	OMIM:603909
Immunodeficiency 10	Lymphadenopathy	OMIM:612783
Adult-Onset Still Disease	Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Splenomegaly,...	ORPHA:829
Castleman Disease	Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Follicular hy...	ORPHA:160
Acute Interstitial Pneumonia	Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat...	ORPHA:79126
Boutonneuse Fever	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:83313
Cutaneous Mastocytoma	Lymphadenopathy	ORPHA:79455
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t...	OMIM:276820
Nephroblastoma	Lymphadenopathy	ORPHA:654
Cinca Syndrome	Splenomegaly, Elevated circulating C-reactive protein concentration, Lymphadenopathy	ORPHA:1451
Niemann-Pick Disease, Type A	Splenomegaly, Lymphadenopathy	OMIM:257200
Papa Syndrome	Lymphadenopathy	ORPHA:69126
Hydrolethalus Syndrome 1	Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx of ha...	OMIM:236680
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Hypopituitarism, Absent peripheral lymph nodes in presence of infection	ORPHA:98813
Squamous Cell Carcinoma Of The Anal Canal	Lymphadenopathy	ORPHA:424019
Sézary Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:3162
Lig4 Syndrome	Cryptorchidism, Hypoplasia of penis, Lymphadenopathy	ORPHA:99812
Familial Hemophagocytic Lymphohistiocytosis	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Lymphadenopathy...	ORPHA:540
Campomelic Dysplasia	Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor...	OMIM:114290
Cyclic Neutropenia	Cervical lymphadenopathy, Recurrent tonsillitis, Lymphadenopathy	ORPHA:2686
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Lymphadenopathy	OMIM:619183
Pulmonary Non-Tuberculous Mycobacterial Infection	Lymphadenopathy	ORPHA:411703
Primary Myelofibrosis	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly	ORPHA:824
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated circulating creatine kinase concentration, Splenomegaly, Lymphadenitis, Lymphadenopathy,...	OMIM:615895
American Trypanosomiasis	Splenomegaly, Lymphadenopathy	ORPHA:3386
Legionnaires Disease	Hyponatremia, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:549
Mevalonic Aciduria	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	OMIM:610377
Scrub Typhus	Splenomegaly, Lymphadenopathy	ORPHA:83317
Aggressive Systemic Mastocytosis	Hypersplenism, Lymphadenopathy, Hepatosplenomegaly	ORPHA:98850
Multiple Myeloma	Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphadenopathy, Hype...	ORPHA:29073
Diffuse Cutaneous Mastocytosis	Abnormality of the spleen, Lymphadenopathy	ORPHA:79456
H Syndrome	Hypertriglyceridemia, Lymphadenopathy, Hepatosplenomegaly, Azoospermia, Hypogonadism, Micropenis,...	ORPHA:168569
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Splenomegaly, Lymphadenopathy	OMIM:616100
Melkersson-Rosenthal Syndrome	Lymphadenopathy	ORPHA:2483
Omenn Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:39041
Felty Syndrome	Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:47612
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Elevated circulating C-reactive protein concentration, Lymphadenopathy	OMIM:617099
Immunodeficiency 98 With Autoinflammation, X-Linked	Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy	OMIM:301078
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Short ...	OMIM:304120
Klatskin Tumor	Lymphadenopathy	ORPHA:99978
Paroxysmal Nocturnal Hemoglobinuria	Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Decreased serum iron, Increased blood...	ORPHA:447
Kikuchi-Fujimoto Disease	Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Splenomegaly,...	ORPHA:50918
Hypocomplementemic Urticarial Vasculitis	Splenomegaly, Lymphadenopathy	ORPHA:36412
Combined Immunodeficiency Due To Crac Channel Dysfunction	Splenomegaly, Lymphadenopathy	ORPHA:169090
Gamma-Heavy Chain Disease	Splenomegaly, Lymphadenopathy	ORPHA:100026
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Lymphadenopathy, Hepatosplenomegaly	ORPHA:169154
Histiocytosis-Lymphadenopathy Plus Syndrome	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Splenomega...	OMIM:602782
Igg4-Related Submandibular Gland Disease	Prostatitis, Enlarged lacrimal glands, Abnormal pancreas morphology, Lymphadenopathy, Enlargement...	ORPHA:449432
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Proteasome-Associated Autoinflammatory Syndrome 3	Splenomegaly, Hypertriglyceridemia, Lymphadenopathy	OMIM:617591
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Enlarged tonsils, Lymphadenopathy, Hepatosplenomegaly	OMIM:606367
Mixed Connective Tissue Disease	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:809
Immunodeficiency With Hyper-Igm, Type 1	Splenomegaly, Enlarged tonsils, Absence of lymph node germinal center	OMIM:308230
Graft Versus Host Disease	Lymphadenopathy, Hyperbilirubinemia, Hepatosplenomegaly	ORPHA:39812
Immunodeficiency, Common Variable, 8, With Autoimmunity	Splenomegaly, Generalized lymphadenopathy, Lymphadenopathy	OMIM:614700
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Splenomegaly, Lymphadenopathy	ORPHA:436159
Hyperimmunoglobulinemia D With Periodic Fever	Lymphadenopathy	ORPHA:343
Tangier Disease	Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Hepatospl...	ORPHA:31150
Familial Pancreatic Carcinoma	Ovarian carcinoma, Pancreatic adenocarcinoma, Lymphadenopathy, Hepatosplenomegaly	ORPHA:1333
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Splenomegaly, Abnormal blood ion concentration, Lymphadenopathy, Hypoalbuminemia, Hypocalcemia, H...	ORPHA:37042
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Cervical lymphadenopathy, Elevated circulating C-reactive protein concentration, Lymphadenopathy	OMIM:617718
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Lymphadenopathy	OMIM:304790
Carney Triad	Mediastinal lymphadenopathy, Pheochromocytoma, Lymphadenopathy	ORPHA:139411
Orofaciodigital Syndrome Type 4	Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial hand polydactyly, ...	ORPHA:2753
Hyper-Igd Syndrome	Splenomegaly, Lymphadenitis, Lymphadenopathy, Hepatosplenomegaly	OMIM:260920
Cranioectodermal Dysplasia 1	Broad toe, Brachydactyly, Short humerus, Rhizomelia, Broad distal phalanges of all fingers, Short...	OMIM:218330
T-Cell Immunodeficiency With Thymic Aplasia	Hypocalcemic tetany, Aplasia of the thymus, Lymphadenopathy	ORPHA:83471
Aregenerative Anemia	Bone marrow hypocellularity, Lymphadenopathy	ORPHA:101096
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Splenomegaly, Lymphadenitis, Lymphadenopathy	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Splenomegaly, Lymphadenitis, Lymphadenopathy	OMIM:233710
Poems Syndrome	Hypogonadism, Increased circulating prolactin concentration, Lymphadenopathy	ORPHA:2905
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hypertriglyceridemia, Splenomegaly, Lymphadenopathy, Polysplenia	OMIM:619418
Pulmonary Capillary Hemangiomatosis	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Pediatric Systemic Lupus Erythematosus	Lymphadenopathy	ORPHA:93552
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Splenomegaly, Lymphadenitis, Lymphadenopathy	OMIM:233690
Chédiak-Higashi Syndrome	Hyponatremia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, L...	ORPHA:167
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Farber Disease	Lymphadenopathy, Hepatosplenomegaly	ORPHA:333
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Orchitis, Splenomegaly, Elevated circulating C-reactive protein concentration, Lymphadenopathy	ORPHA:32960
Acute Promyelocytic Leukemia	Lymphadenopathy	ORPHA:520
Malt Lymphoma	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:52417
Osteopathia Striata With Cranial Sclerosis	Paranasal sinus hypoplasia, Arachnodactyly, Micrognathia, Osteopathia striata, Fibular hypoplasia...	OMIM:300373
Drug Reaction With Eosinophilia And Systemic Symptoms	Lymphadenopathy	ORPHA:139402
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Absence of lymph node germinal center, Hepatosplenomegaly	ORPHA:79124
Waldenström Macroglobulinemia	Splenomegaly, Lymphadenopathy	ORPHA:33226
Hennekam Syndrome	Splenomegaly, Pulmonary lymphangiectasia, Lymphadenopathy, Hypocalcemia, Lymphangioma	ORPHA:2136
Goodpasture Syndrome	Increased blood urea nitrogen	OMIM:233450
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated circulating C-reactive protein concentration, Splenomegaly, Lymphadenopathy, Hepatosplen...	OMIM:615688
Igg4-Related Ophthalmic Disease	Elevated circulating C-reactive protein concentration, Orchitis, Abnormality of the anterior pitu...	ORPHA:449563
Charge Syndrome	Hypoplasia of the ulna, Down-sloping shoulders, Micrognathia, Absent radius, Short thumb, Hand mo...	OMIM:214800
Coccidioidomycosis	Abnormal sperm morphology, Abnormality of the spleen, Mediastinal lymphadenopathy, Lymphadenopath...	ORPHA:228123
Chediak-Higashi Syndrome	Splenomegaly, Lymphadenopathy	OMIM:214500
Lymphangioleiomyomatosis	Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic system, Abnormal morphology of femal...	ORPHA:538
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Hyperamylasemia, Orchitis, Elevated circulati...	ORPHA:99826
Systemic Mastocytosis With Associated Hematologic Neoplasm	Splenomegaly, Lymphadenopathy	ORPHA:98849
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Lymphadenitis, Abnormality of the anterior...	ORPHA:449395
Acute Generalized Exanthematous Pustulosis	Lymphadenopathy	ORPHA:293173
Q Fever	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly	ORPHA:781
Selective Igm Deficiency	Lymphadenitis, Lymphadenopathy	ORPHA:331235
Granulomatous Disease, Chronic, X-Linked	Splenomegaly, Lymphadenitis, Lymphadenopathy	OMIM:306400
Immunodeficiency 82 With Systemic Inflammation	Elevated circulating C-reactive protein concentration, Follicular hyperplasia, Splenomegaly, Lymp...	OMIM:619381
Autoimmune Lymphoproliferative Syndrome	Chronic noninfectious lymphadenopathy, Hypersplenism, Splenomegaly, Lymphadenopathy, Bone marrow ...	ORPHA:3261
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphadenopathy	OMIM:607944
Brucellosis	Elevated circulating C-reactive protein concentration, Hypersplenism, Splenomegaly, Orchitis, Epi...	ORPHA:1304
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Lymphadenopathy, Enlargement of parotid gland, Nodular goiter, Abnormal...	ORPHA:79078
Familial Mediterranean Fever	Orchitis, Splenomegaly, Lymphadenopathy	ORPHA:342
Common Variable Immunodeficiency	Splenomegaly, Lymphadenopathy	ORPHA:1572
Immunodeficiency 55	Lymphadenopathy	OMIM:617827
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating C-reactive pr...	OMIM:256040
Autosomal Recessive Malignant Osteopetrosis	Splenomegaly, Hypophosphatemia, Hypocalcemia, Lymphadenopathy	ORPHA:667
Sarcoidosis	Hypercalcemia, Abnormal reproductive system morphology, Enlarged lacrimal glands, Abnormal lymph ...	ORPHA:797
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Absent peripheral lymph nodes in presence of infection	OMIM:600802
Immunodeficiency 31C	Splenomegaly, Lymphadenopathy	OMIM:614162
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Lymphadenopathy, Hepatosplenomegaly	ORPHA:85408
Crimean-Congo Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Orchitis, Splenomegaly, Epididymitis, Lymphad...	ORPHA:99827
Adenocarcinoma Of The Anal Canal	Lymphadenopathy	ORPHA:424016
Behçet Disease	Orchitis, Splenomegaly, Lymphadenopathy	ORPHA:117
Cushing Syndrome Due To Ectopic Acth Secretion	Pancreatic adenocarcinoma, Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell a...	ORPHA:99889
Ileal Neuroendocrine Tumor	Lymphadenopathy	ORPHA:100078
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625
Primary Sjögren Syndrome	Vaginal dryness, Parotitis, Lymphadenopathy	ORPHA:289390
Blau Syndrome	Splenomegaly, Abnormal salivary gland morphology, Lymphadenopathy	ORPHA:90340
Systemic Lupus Erythematosus	Lymphadenopathy	ORPHA:536
Leptospirosis	Hyperproteinemia, Lymphadenopathy	ORPHA:509
African Trypanosomiasis	Splenomegaly, Hepatosplenomegaly, Abnormal prolactin level, Lymphadenopathy	ORPHA:3385

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 Tmem86a

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 Tmem86a.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Adipocyte lysoplasmalogenase TMEM86A regulates plasmalogen homeostasis and protein kinase A-dependent energy metabolism.	Nature communications (July 2022)	Tmem86a^{tm1a(KOMP)Mbp}	PMC9283435

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MGI Allele	Allele Type	Produced
Tmem86a^{tm1a(KOMP)Mbp}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Tmem86a^{tm1b(KOMP)Mbp}	Reporter-tagged deletion allele (with selection cassette)	Mice
Tmem86a^{tm1e(KOMP)Mbp}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Tmem86a MGI:1915143

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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X-ray

Eye Morphology

Human diseases caused by Tmem86a mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data