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Gene: Cep85l MGI:3642684

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Gene Summary

Name:
centrosomal protein 85-like
Synonyms:
Gm9766

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal startle reflex Cep85lem1(IMPC)Mbp HOM Early adult 1.40×10-06
abnormal auditory brainstem response Cep85lem1(IMPC)Mbp HOM   Early adult 1.83×10-06
enlarged lymph nodes Cep85lem1(IMPC)Mbp HOM Early adult 0.00
abnormal kidney morphology Cep85lem1(IMPC)Mbp HOM Early adult 0.00
enlarged kidney Cep85lem1(IMPC)Mbp HOM Early adult 0.00
decreased anxiety-related response Cep85lem1(IMPC)Mbp HOM   Early adult 2.67×10-05
abnormal lymph node morphology Cep85lem1(IMPC)Mbp HOM Early adult 0.00
abnormal skin morphology Cep85lem1(IMPC)Mbp HOM Early adult 0.00
decreased startle reflex Cep85lem1(IMPC)Mbp HOM Early adult 1.84×10-05
abnormal behavior Cep85lem1(IMPC)Mbp HOM   Early adult 8.00×10-05
decreased prepulse inhibition Cep85lem1(IMPC)Mbp HOM Early adult 0.00
decreased thigmotaxis Cep85lem1(IMPC)Mbp HOM   Early adult 7.96×10-05

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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 Whole Body Dorso Ventral

27 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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Human diseases caused by Cep85l mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Cep85l by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lissencephaly 10
EEG abnormality, Torticollis, Aggressive behavior, Depression OMIM:618873
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Neurogenic bladder, Abnormal repetitive mannerisms, Optic nerve hypoplasia, Dysphagia ORPHA:572013

The table below shows human diseases predicted to be associated to Cep85l by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... OMIM:617610
Mantle Cell Lymphoma
Splenomegaly, Anorexia, Lymphadenopathy ORPHA:52416
Hepatorenocardiac Degenerative Fibrosis
Hypersplenism, Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fib... OMIM:619902
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Immunodeficiency, Common Variable, 6
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... OMIM:613496
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Splenomegaly, Enlarged kidney, Hepatomegaly OMIM:615285
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Enuresis, Tics, ... ORPHA:66624
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center OMIM:235550
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Hereditary Progressive Mucinous Histiocytosis
Lymphadenopathy ORPHA:158025
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Nephronophthisis 16
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... OMIM:615382
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto... OMIM:617519
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Hyperactivity, Focal EEG discharges with secondary generalization, Anorexia, Aggr... ORPHA:3077
Aa Amyloidosis
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,... ORPHA:85445
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Hearing impairment, Aggressive behavior ORPHA:208441
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo... OMIM:602088
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Meckel Syndrome, Type 8
Low-set ears, Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:613885
Ravine Syndrome
Abnormal auditory evoked potentials, Anorexia ORPHA:99852
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Generalized dystonia, Dystonia, Tremor, Sensorineural hearin... ORPHA:52368
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Anorexia, Lymphadenopathy ORPHA:86893
Kerion Celsi
Lymphadenopathy ORPHA:499
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Lymphadenopathy, Follicular hyperplasia OMIM:619126
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote... ORPHA:320401
Immunodeficiency 104
Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:608971
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Splenomegal... OMIM:263200
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney OMIM:618272
Granulomatous Slack Skin
Nephrocalcinosis, Acute kidney injury, Abnormal lymph node morphology ORPHA:33111
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Irritability, Exaggerated startle response, Optic... OMIM:616881
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Proteinuria, Splenomegaly, Optic atrophy, Nephrotic syndrome, Focal segmental glome... OMIM:617303
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Anorexia, Oral-pharyngeal dysphagia ORPHA:100083
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Papillary renal cell carci... ORPHA:97290
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Tremor, Decreased nerve conduction velocity, Neur... ORPHA:206443
Kaposiform Lymphangiomatosis
Splenomegaly, Abnormality of the lymphatic system, Hepatosplenomegaly, Abnormal lymphatic vessel ... ORPHA:464329
Mu-Heavy Chain Disease
Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Nephropathy ORPHA:100024
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Hypoplasia of the ear c... ORPHA:66661
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ... ORPHA:730
Renal-Hepatic-Pancreatic Dysplasia 2
Asplenia, Hepatomegaly, Cystic renal dysplasia, Enlarged kidney OMIM:615415
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Hepatomegaly, Ureteral duplication, Renal insufficiency, Posteriorly rotated ear... OMIM:608836
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Exaggerated startle response, Inappropriate behavior, Dystonia ORPHA:309246
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Diaphanospondylodysostosis
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Low-set ears, Cystic renal dysplasia, En... OMIM:608022
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Macroscopic hematuria, Polyphagia, Enlarge... ORPHA:251004
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatomegaly, Recurrent urinary tract infections, Generalized lymphadenopathy, Follicular hyperpl... OMIM:615559
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Renal insufficiency, Asplenia, Splenomegaly, Ureteral atresia, Stage 5 chronic kidn... OMIM:208540
H Syndrome
Abnormality of the kidney, Lymphadenopathy, Hepatosplenomegaly, Micropenis, Enlarged kidney, Hear... ORPHA:168569
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Splenomegaly, Lymphadenopathy ORPHA:444463
Rhabdoid Tumor
Hematuria, Irritability, Renal neoplasm, Lymphadenopathy ORPHA:69077
Familial Papillary Or Follicular Thyroid Carcinoma
Papillary renal cell carcinoma, Chronic noninfectious lymphadenopathy, Abnormal lymph node morpho... ORPHA:319487
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Abnormal pinna morphology, Low-set ears, Polysplenia, Cystic renal dysplasia, Enlar... OMIM:200995
Pleural Mesothelioma
Hepatomegaly, Lymphadenopathy, Dysphagia ORPHA:50251
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor... OMIM:608643
Lymphoid Interstitial Pneumonia
Mediastinal lymphadenopathy, Enlarged kidney, Hepatomegaly ORPHA:79128
Adult-Onset Autosomal Dominant Leukodystrophy
Recurrent urinary tract infections, EEG with generalized slow activity, Orthostatic hypotension, ... ORPHA:99027
Follicular Lymphoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Immunodeficiency 27A
Anorexia, Splenomegaly, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly OMIM:209950
Glycogen Storage Disease Ib
Hepatomegaly, Proteinuria, Splenomegaly, Nephrolithiasis, Focal segmental glomerulosclerosis, Enl... OMIM:232220
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response, Hearing impairment, Depression OMIM:620114
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Exaggerated startle response ORPHA:163985
Classic Hodgkin Lymphoma
Hepatomegaly, Anorexia, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity ORPHA:391
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:100025
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly, Hearing impairment, Lymphadenopathy ORPHA:858
Igg4-Related Kidney Disease
Renal insufficiency, Proteinuria, Lymphadenitis, Renal interstitial immunoglobulin deposits, Chro... ORPHA:449395
Stiff Person Spectrum Disorder
Emotional lability, Exaggerated startle response ORPHA:3198
Hyperparathyroidism, Transient Neonatal
Low-set ears, Enlarged kidney, Unilateral renal agenesis, Splenic cyst OMIM:618188
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Low-frequency sensorineural hearing impairment, Lymphadenopathy, Hepatosplenomegaly OMIM:613101
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Niemann-Pick Disease, Type A
Hepatomegaly, Splenomegaly, Lymphadenopathy, Irritability, Athetosis OMIM:257200
Alg9-Cdg
Low-set, posteriorly rotated ears, Hepatomegaly, Torticollis, Hypoplasia of the bladder, Ureteral... ORPHA:79328
Kimura Disease
Lymphadenopathy, Follicular hyperplasia ORPHA:482
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Lymphadenopathy OMIM:615513
Immunodeficiency, Common Variable, 2
Hepatomegaly, Splenomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:240500
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Abnormality of the lymphatic system, Microtia, Enlarged kidney ORPHA:276280
Autosomal Recessive Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Hypersplenism, Splenomegaly, Oliguria, S... ORPHA:731
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Lymphadenopathy, Fluctuating splenomegaly OMIM:619220
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Proteinuria, Heparan sulfate excretion in urine, Optic atrophy, Hepatosplenomegaly, Nephrotic syn... ORPHA:505248
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:603552
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Restless legs, Urinary incontinence, Optic nerve hypoplasia,... ORPHA:101085
Activated Pi3K-Delta Syndrome
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, Hearing impairment ORPHA:397596
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy OMIM:300853
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response, Optic nerve hypoplasia, Irritability, Macrotia, EEG with generalize... OMIM:617864
Hereditary Amyloidosis With Primary Renal Involvement
Hepatomegaly, Renal insufficiency, Proteinuria, Renal interstitial amyloid deposits, Nocturia, Ab... ORPHA:85450
Tyrosinemia, Type I
Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, Renal Fanconi syndrome, Glomer... OMIM:276700
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Recurrent urinary tract infections, Posteriorly rotated ears, Facial palsy, Abnorm... OMIM:615873
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Hepatosplenomegaly, Lymphadenopathy OMIM:618982
Immunodeficiency 76
Splenomegaly, Lymphadenopathy OMIM:619164
Immunodeficiency 52
Splenomegaly, Lymphadenopathy OMIM:617514
Middle Ear Neuroendocrine Tumor
Facial palsy, Chronic noninfectious lymphadenopathy, Sensorineural hearing impairment, Tinnitus, ... ORPHA:100084
Glycogen Storage Disease Ia
Hepatomegaly, Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Enlarged kidney, ... OMIM:232200
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:42642
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Sensorineural hearing impairment, Lymphadenopathy OMIM:611762
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... OMIM:194080
Immunodeficiency 64 With Lymphoproliferation
Splenomegaly, Mediastinal lymphadenopathy, Cervical lymphadenopathy, Lymphadenopathy, Hepatosplen... OMIM:618534
Heme Oxygenase 1 Deficiency
Hepatomegaly, Proteinuria, Asplenia, Cervical lymphadenopathy, Lymphadenopathy, Hematuria, Nephritis OMIM:614034
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Classic Mycosis Fungoides
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:2584
Endocrine-Cerebroosteodysplasia
Hypospadias, Microphallus, Low-set ears, Hyperechogenic kidneys, Enlarged kidney OMIM:612651
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Splenomegaly, Lymph node hypopl... OMIM:602450
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus, Depression OMIM:184850
Generalized Eruptive Histiocytosis
Lymphadenopathy ORPHA:157991
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Splenomegaly, Glomerulonephritis, Lymphadenopathy OMIM:619375
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Splenomegaly, Abnormal lymph node morphology, Hepatosplenomegaly OMIM:612840
Rosaï-Dorfman Disease
Lymphadenopathy ORPHA:158014
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Head titubation, Absent brainstem auditory responses, Vestibular areflexia, Dystonia ORPHA:3240
Sézary Syndrome
Tremor, Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:3162
Schnitzler Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:37748
Tay-Sachs Disease
Exaggerated startle response, Dystonia, Tremor, Optic atrophy, Hepatosplenomegaly, Depression, Dy... ORPHA:845
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response, Hydronephrosis, Hearing impairment OMIM:620327
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Abnormal fear-induced behavior, Depression, Increased urinary porphobilinogen, Agit... ORPHA:100924
Cinca Syndrome
Papilledema, Lymphadenopathy, Hepatosplenomegaly, Progressive sensorineural hearing impairment, H... OMIM:607115
Sandhoff Disease
Hepatomegaly, Exaggerated startle response, Orthostatic hypotension, Urinary incontinence, Cardio... OMIM:268800
Scrub Typhus
Tremor, Splenomegaly, Renal insufficiency, Lymphadenopathy ORPHA:83317
Burkitt Lymphoma
Abnormality of the spleen, Abnormal lymph node morphology ORPHA:543
Leishmaniasis
Hepatomegaly, Splenomegaly, Anorexia, Lymphadenopathy ORPHA:507
Abcd Syndrome
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... OMIM:600501
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia OMIM:613091
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... ORPHA:206436
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center OMIM:606843
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Renal insufficiency, Membranoproliferative glomerulonephritis, Hemolytic-uremic syn... OMIM:619644
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Caspase 8 Deficiency
Splenomegaly, Lymphadenopathy OMIM:607271
Ogden Syndrome
Global glomerulosclerosis, Torticollis, Cardiomegaly, Protruding ear, Irritability, Polycystic ki... OMIM:300855
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... ORPHA:1215
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Splenomegaly, Recurrent urinary tract infections, Lymphadenopathy OMIM:618495
Cold Agglutinin Disease
Hepatomegaly, Splenomegaly, Abnormal urinary color, Lymphadenopathy ORPHA:56425
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical cysts, Nephro... OMIM:130650
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Cardiomegaly, Splenomegaly, Mucopolysacchariduria, Enlarged kidney OMIM:252500
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Beckwith-Wiedemann Syndrome
Ureteral duplication, Hepatomegaly, Otosclerosis, Cardiomegaly, Splenomegaly, Nephrolithiasis, Hy... ORPHA:116
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:619260
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Exaggerated startle response, Agitation, Truncal titubation OMIM:618056
Sandhoff Disease, Infantile Form
Exaggerated startle response, Hepatosplenomegaly ORPHA:309155
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Renal agenesis, Cardiomegaly, Asplenia, Horseshoe kidney, Polysplenia, Low-set ears... OMIM:306955
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79292
Mogs-Cdg
Hepatomegaly, Absent brainstem auditory responses, Cardiomegaly, Sensorineural hearing impairment... ORPHA:79330
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Exaggerated startle response, Optic atrophy OMIM:609541
Immunodeficiency 54
Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:609981
Meacham Syndrome
Accessory spleen, Enlarged kidney, Horseshoe kidney OMIM:608978
Purine Nucleoside Phosphorylase Deficiency
Tremor, Splenomegaly, Recurrent urinary tract infections, Lymph node hypoplasia OMIM:613179
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy OMIM:212050
Immunodeficiency, Common Variable, 1
Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:607594
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Generalized lymphadenopathy OMIM:620282
Melkersson-Rosenthal Syndrome
Abnormal autonomic nervous system physiology, Oligosacchariduria, Facial palsy, Lymphadenopathy ORPHA:2483
Aregenerative Anemia
Fatigable weakness of skeletal muscles, Lymphadenopathy, Depression, Bone marrow hypocellularity,... ORPHA:101096
Tularemia
Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal lymphadenopathy... ORPHA:3392
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic disc pallor, Exaggerated startle response, Optic atrophy ORPHA:320406
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Macrotia, Sensorineural hearing impairment, Prot... ORPHA:500095
Indolent Systemic Mastocytosis
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:98848
Nephroblastoma
Hematuria, Nephroblastoma, Lymphadenopathy ORPHA:654
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphadenopathy, Follicular hyperplasia OMIM:619846
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Splenomegaly, Sensorineural hearing impairment, Lymphadenopathy, Bone marrow hypoce... ORPHA:3226
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Exaggerated startle response, Optic atrophy, EEG abnormality, Macrotia OMIM:617281
Immunodeficiency 105
Hepatosplenomegaly, Absence of lymph node germinal center OMIM:619924
Cinca Syndrome
Hepatomegaly, Splenomegaly, Sensorineural hearing impairment, Lymphadenopathy, EEG abnormality, P... ORPHA:1451
Cerebrotendinous Xanthomatosis
Resting tremor, Optic disc pallor, Abnormal auditory evoked potentials, Aggressive behavior, Decr... ORPHA:909
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Splenomegaly, Lympha... OMIM:603909
Cockayne Syndrome Type 1
Hepatomegaly, Renal insufficiency, Absent brainstem auditory responses, Proteinuria, Tremor, Opti... ORPHA:90321
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Nephrocalcinosis, Enl... ORPHA:79259
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Renal insufficiency, Glomerulopathy, Proteinuria, Splenomegaly, Sensorineural heari... ORPHA:36412
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, Absence of lymph node germinal center ORPHA:277
Acute Monoblastic/Monocytic Leukemia
Cervical lymphadenopathy, Progressive hearing impairment, Oliguria, Anorexia ORPHA:514
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center OMIM:608184
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Abnormal lymph node morphology, Lymphadenopathy, Nephrotic syndrome, Hepatosplenom... ORPHA:911
Glycogen Storage Disease Of Heart, Lethal Congenital
EEG with burst suppression, Enlarged kidney, Cardiomegaly OMIM:261740
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Hepatosplenomegaly, Urinary glycosaminoglycan excretion, Low-set ea... ORPHA:79255
Asparagine Synthetase Deficiency
Exaggerated startle response, Optic nerve hypoplasia, Tremor, EEG with burst suppression, Hypsarr... OMIM:615574
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the lymphatic system, Abnormality of the kidney, Abnormal lymph node morphology ORPHA:54251
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Posteriorly rotated ears, Low-set ears OMIM:618598
Primary Myelofibrosis
Hepatomegaly, Anorexia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly ORPHA:824
Lymphoproliferative Syndrome 2
Hepatomegaly, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly OMIM:615122
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Splenomegaly, Follicular hyperplasia OMIM:614470
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy OMIM:618987
Roifman Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:616651
Thyroid Lymphoma
Lymphadenopathy, Dysphagia ORPHA:97285
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Posteriorly rotated ears, Lymphadenopathy, Low-set ears, Hepatosplenomegaly OMIM:619750
Trisomy 10P
Posteriorly rotated ears, Abnormality of the kidney, Abnormal auditory evoked potentials, EEG wit... ORPHA:171929
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Short-segment aganglioni... OMIM:609136
Legionnaires Disease
Renal insufficiency, Proteinuria, Anorexia, Splenomegaly, Lymphadenopathy, Hematuria, Bone marrow... ORPHA:549
Boutonneuse Fever
Renal insufficiency, Cervical lymphadenopathy, Lymphadenopathy ORPHA:83313
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Partial development of the penile shaft OMIM:608800
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Lymphadenopathy OMIM:150550
Cockayne Syndrome A
Hepatomegaly, Renal insufficiency, Proteinuria, Abnormal pinna morphology, Abnormal auditory evok... OMIM:216400
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Optic atrophy, Low-set ears, Dysphagia OMIM:617301
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Lymphadenopathy, Hepatosplenomegaly, Nephroti... OMIM:618935
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Immunodeficiency 7
Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:615387
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Pseudomyxoma Peritonei
Lymphadenopathy ORPHA:26790
Plaa-Associated Neurodevelopmental Disorder
Low-set, posteriorly rotated ears, Exaggerated startle response, Sensorineural hearing impairment... ORPHA:521426
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Griscelli Syndrome Type 2
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79477
Papa Syndrome
Proteinuria, Lymphadenopathy ORPHA:69126
Roifman Syndrome
Lymphadenopathy, Hepatosplenomegaly ORPHA:353298
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:85414
Cockayne Syndrome B
Hepatomegaly, Renal insufficiency, Proteinuria, Abnormal pinna morphology, Abnormal auditory evok... OMIM:133540
Gamma-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy, Dysphagia ORPHA:100026
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymph node hypoplasia, Absent tonsils, Hepatomegaly ORPHA:276
Leprechaunism
Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Protruding ear, Nephrocalcinosis, Low... ORPHA:508
Anaplastic Thyroid Carcinoma
Lymphadenopathy, Dysphagia ORPHA:142
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Waldenström Macroglobulinemia
Hepatomegaly, Renal insufficiency, Anorexia, Splenomegaly, Multifocal epileptiform discharges, Ly... ORPHA:33226
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Splenomegaly, Chronic noninfectious lymphadenopathy, Follicular hyperplasia OMIM:601859
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Castleman Disease
Renal insufficiency, Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenop... ORPHA:160
Aggressive Systemic Mastocytosis
Hypersplenism, Lymphadenopathy, Anorexia, Hepatosplenomegaly ORPHA:98850
American Trypanosomiasis
Hepatomegaly, Splenomegaly, Aganglionic megacolon, Lymphadenopathy ORPHA:3386
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:308240
Omenn Syndrome
Hepatomegaly, Splenomegaly, Nephrotic syndrome, Lymphadenopathy ORPHA:39041
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality, Urinary incontinence ORPHA:206448
Griscelli Syndrome
Hepatomegaly, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:381
Desmoplastic Small Round Cell Tumor
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:83469
Medullary Thyroid Carcinoma
Lymphadenopathy, Dysphagia ORPHA:1332
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Hypospadias, Hearing impairment, Splenomegaly, Renal cyst, Anterior creases of earl... OMIM:312870
Acute Promyelocytic Leukemia
Hematuria, Addictive alcohol use, Anorexia, Lymphadenopathy ORPHA:520
Cutaneous Mastocytoma
Lymphadenopathy ORPHA:79455
Pediatric Systemic Lupus Erythematosus
Dark urine, Renal insufficiency, Proteinuria, Lymphadenopathy, Hematuria, Nephrotic syndrome, Abn... ORPHA:93552
Thymic Neuroendocrine Tumor
Neoplasm of the thymus, Mediastinal lymphadenopathy, Chronic noninfectious lymphadenopathy, Calci... ORPHA:97289
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy ORPHA:2221
Hemophagocytic Lymphohistiocytosis, Familial, 1
Splenomegaly, Irritability, Hepatomegaly, Lymphadenopathy OMIM:267700
Lymphatic Filariasis
Proteinuria, Abnormality of the kidney, Glomerulonephritis, Lymphadenitis, Abnormality of the lym... ORPHA:2035
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Splenomegaly, Sensorineural hearing impairment, Lymphadenopathy, Abnormal renal phy... ORPHA:540
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Chediak-Higashi Syndrome
Hepatomegaly, Tremor, Splenomegaly, Decreased nerve conduction velocity, Lymphadenopathy OMIM:214500
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Posteriorly rotated ears, Optic atrophy, Low-set ears, Dysphagia OMIM:617527
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
External ear malformation, Exaggerated startle response, Dystonia ORPHA:438216
Mevalonic Aciduria
Optic disc pallor, Posteriorly rotated ears, Fluctuating hepatomegaly, Fluctuating splenomegaly, ... OMIM:610377
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Irritability OMIM:603553
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Cardiac-Urogenital Syndrome
Accessory spleen, Enlarged kidney, Patent urachus, Micropenis, Penoscrotal hypospadias OMIM:618280
Immunodeficiency 97 With Autoinflammation
Recurrent urinary tract infections, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, H... OMIM:619802
Felty Syndrome
Hepatomegaly, Recurrent urinary tract infections, Splenomegaly, Lymphadenopathy, Bone marrow hypo... ORPHA:47612
Diffuse Cutaneous Mastocytosis
Hepatomegaly, Abnormality of the spleen, Lymphadenopathy ORPHA:79456
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Irritability, Exaggerated startle response, EEG with generalized slow activity, Dysphagia OMIM:618367
Immunodeficiency 10
Lymphadenopathy OMIM:612783
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:619183
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:616100
Lymphoproliferative Syndrome 1
Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:613011
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy OMIM:618048
Mixed Connective Tissue Disease
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Nephropathy ORPHA:809
Lig4 Syndrome
Hepatomegaly, Hypoplasia of penis, Lymphadenopathy ORPHA:99812
Cherubism
Marcus Gunn pupil, Optic neuropathy, Submandibular lymph node enlargement OMIM:118400
Hyper-Igd Syndrome
Optic disc pallor, Splenomegaly, Lymphadenitis, Lymphadenopathy, Hepatosplenomegaly, Renal angiom... OMIM:260920
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Absent peripheral lymph nodes in presence of infection ORPHA:98813
Drug Reaction With Eosinophilia And Systemic Symptoms
Tubulointerstitial nephritis, Renal insufficiency, Nephrotic syndrome, Lymphadenopathy ORPHA:139402
Cyclic Neutropenia
Cervical lymphadenopathy, Recurrent tonsillitis, Lymphadenopathy ORPHA:2686
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Graft Versus Host Disease
Irritability, Lymphadenopathy, Hepatosplenomegaly ORPHA:39812
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:169090
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia ORPHA:100080
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Lymphadenopathy OMIM:304790
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424019
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy OMIM:301078
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Splenomegaly, Lymphadenitis, Lymphadenopathy, Vesicoureteral reflux OMIM:615895
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urethral stricture, Exaggerated startle response, Small earlobe, Hypospadias, Urinary incontinenc... OMIM:619522
Lymphangioleiomyomatosis
Abnormal urinary color, Renal neoplasm, Abnormality of the lymphatic system, Optic atrophy, Lymph... ORPHA:538
Omenn Syndrome
Hepatomegaly, Splenomegaly, Hypoplasia of the thymus, Lymphadenopathy OMIM:603554
Mend Syndrome
Abnormal auditory evoked potentials, Hyperactivity, Low-set ears, Aggressive behavior ORPHA:401973
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Lymphadenopathy ORPHA:343
Macrophage Activation Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:158061
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Cardiomegaly, Splenomegaly, Cervical lymphadenopathy, Sensorineural hearing impairm... OMIM:602782
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphadenopathy, Hepatosplenomegaly ORPHA:169154
Klatskin Tumor
Hepatomegaly, Lymphadenopathy ORPHA:99978
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Splenomegaly, Enlarged tonsils, Absence of lymph node germinal center OMIM:308230
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:436159
Hennekam Syndrome
Ectopic kidney, External ear malformation, Splenomegaly, Pulmonary lymphangiectasia, Horseshoe ki... ORPHA:2136
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Optic atrophy OMIM:253800
Q Fever
Hepatomegaly, Anorexia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Hematuria ORPHA:781
Agammaglobulinemia, X-Linked
Lymph node hypoplasia, Recurrent urinary tract infections, Hearing impairment OMIM:300755
Neuroendocrine Tumor Of The Rectum
Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia ORPHA:100082
Kikuchi-Fujimoto Disease
Hepatomegaly, Generalized lymphadenopathy, Anorexia, Splenomegaly, Cervical lymphadenopathy, Abno... ORPHA:50918
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Enlarged tonsils, Lymphadenopathy, Hepatosplenomegaly OMIM:606367
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Renal artery aneurysm, Splenomegaly, Optic atrophy, Lymphadenopathy, Hepatosplenome... OMIM:615688
Multiple Myeloma
Splenomegaly, Lymphadenopathy, Abnormality of the bladder, Nephrotic syndrome, Nephropathy, Acute... ORPHA:29073
Immunodeficiency, Common Variable, 8, With Autoimmunity
Splenomegaly, Generalized lymphadenopathy, Lymphadenopathy OMIM:614700
Carney Triad
Mediastinal lymphadenopathy, Anorexia, Lymphadenopathy ORPHA:139411
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Recurrent urinary tract infections, Hypospadias, Impulsivity, Aggressive behavior,... ORPHA:353281
Familial Pancreatic Carcinoma
Lymphadenopathy, Anorexia, Hepatosplenomegaly ORPHA:1333
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Absence of lymph node germinal center, Urinary retention, Hepatosplenomegaly ORPHA:79124
Systemic Lupus Erythematosus
Proteinuria, Lupus nephritis, Pyuria, Lymphadenopathy, Depression, Hematuria ORPHA:536
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Splenomegaly, Lymphadenopathy, Bilateral sensorineural hearing im... OMIM:619418
Acute Interstitial Pneumonia
Lymphadenopathy ORPHA:79126
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:617591
Poems Syndrome
Papilledema, Visceromegaly, Lymphadenopathy ORPHA:2905
Chédiak-Higashi Syndrome
Tremor, Splenomegaly, Decreased nerve conduction velocity, Lymphadenopathy, Hepatosplenomegaly ORPHA:167
Acute Generalized Exanthematous Pustulosis
Renal insufficiency, Lymphadenopathy ORPHA:293173
Familial Mediterranean Fever
Proteinuria, Splenomegaly, Lymphadenopathy, Nephrocalcinosis, Nephrotic syndrome, Nephropathy ORPHA:342
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Splenomegaly, Lymphadenitis, Hepatomegaly, Lymphadenopathy OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Splenomegaly, Lymphadenitis, Hepatomegaly, Lymphadenopathy OMIM:233710
Malakoplakia
Proteinuria, Dysuria, Follicular hyperplasia, Urinary bladder inflammation, Urinary urgency, Hema... ORPHA:556
Spondyloenchondrodysplasia With Immune Dysregulation
Tubulointerstitial fibrosis, Low-set ears, Lymphadenopathy OMIM:607944
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Tremor, Splenomegaly, Lymphadenopathy, Optic nerve compression, Hearing impairment ORPHA:667
Brucellosis
Hepatomegaly, Glomerulonephritis, Anorexia, Abnormality of the peripheral nervous system, Hypersp... ORPHA:1304
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Splenomegaly, Lymphadenitis, Hepatomegaly, Lymphadenopathy OMIM:233690
Farber Disease
Lymphadenopathy, Hepatosplenomegaly ORPHA:333
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Generalized lymphadenopathy, Splenomegaly, Irritability, Nephrotic syndrome, Dystonia OMIM:615846
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Splenomegaly, Lymphadenopathy, Tubulointerstitial nephritis, Nephrotic syndrome, Membranous nephr... ORPHA:37042
Behçet Disease
Glomerulopathy, Renal insufficiency, Anorexia, Splenomegaly, Lymphadenopathy, Irritability ORPHA:117
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:98849
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Exaggerated startle response, Nephrolithiasis, Dysphagia, Dystonia, Vesicouret... ORPHA:438213
Coccidioidomycosis
Renal insufficiency, Abnormality of the kidney, Abnormality of the spleen, Mediastinal lymphadeno... ORPHA:228123
African Trypanosomiasis
Hepatomegaly, Renal insufficiency, Papilledema, Urinary incontinence, Aggressive behavior, Tremor... ORPHA:3385
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Renal insufficiency, Chronic noninfectious lymphadenopathy, Glomerulonephritis, Hyp... ORPHA:3261
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent urinary tract infections, Aplasia of the thymus, Lymphadenopathy ORPHA:83471
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Anorexia ORPHA:100086
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Impuls... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Impuls... ORPHA:353277
Pancreatoblastoma
Abnormal lymph node morphology ORPHA:677
Tangier Disease
Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly, Facial dipl... ORPHA:31150
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lymphadenopathy OMIM:617099
Primary Sjögren Syndrome
Renal insufficiency, Abnormality of the kidney, Glomerulonephritis, Abnormality of the peripheral... ORPHA:289390
Selective Igm Deficiency
Lymphadenitis, Recurrent urinary tract infections, Lymphadenopathy ORPHA:331235
Granulomatous Disease, Chronic, X-Linked
Splenomegaly, Lymphadenitis, Hepatomegaly, Lymphadenopathy OMIM:306400
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Generalized lymphadenopathy, Anorexia, Optic neuropathy, Splenomegaly, Mediastinal ... OMIM:181000
Ileal Neuroendocrine Tumor
Hydronephrosis, Lymphadenopathy ORPHA:100078
Sarcoidosis
Hepatomegaly, Renal insufficiency, Facial palsy, Nephrolithiasis, Hypercalciuria, Abnormal lymph ... ORPHA:797
Lissencephaly 10
EEG abnormality, Torticollis, Aggressive behavior, Depression OMIM:618873
Malt Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:52417
Leptospirosis
Hepatomegaly, Papilledema, Anorexia, Cellular urinary casts, Lymphadenopathy, Acute kidney injury ORPHA:509
Immunodeficiency 31C
Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:614162
Chikungunya
Cervical lymphadenopathy, Lymphadenopathy, Depression ORPHA:324625
Common Variable Immunodeficiency
Splenomegaly, Lymphadenopathy ORPHA:1572
Crimean-Congo Hemorrhagic Fever
Hepatomegaly, Proteinuria, Anorexia, Splenomegaly, Lymphadenopathy, Hematuria, Agitation, Emotion... ORPHA:99827
Kawasaki Disease
Irritability, Cervical lymphadenopathy, Proteinuria, Sterile pyuria ORPHA:2331
Cushing Syndrome Due To Ectopic Acth Secretion
Increased urinary cortisol level, Anorexia, Neoplasm of the thymus, Fatiguable weakness of proxim... ORPHA:99889
Blau Syndrome
Clear cell renal cell carcinoma, Facial palsy, Splenomegaly, Stage 5 chronic kidney disease, Lymp... ORPHA:90340
Igg4-Related Submandibular Gland Disease
Renal insufficiency, Abnormality of the kidney, Lymphadenopathy ORPHA:449432
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Cervical lymphadenopathy, Lymphadenopathy OMIM:617718
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Lymphadenopathy, Hepatosplenomegaly ORPHA:85408
Plague
Hepatomegaly, Anorexia, Splenomegaly, Lymphadenitis, Enlarged mesenteric lymph node, Depression, ... ORPHA:707
Immunodeficiency 82 With Systemic Inflammation
Anorexia, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, Cholesteatoma OMIM:619381
Immunodeficiency 55
Lymphadenopathy OMIM:617827
Marburg Hemorrhagic Fever
Renal insufficiency, Lymphadenopathy, Anorexia, Aggressive behavior ORPHA:99826
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Splenomegaly, Lymphadenopathy ORPHA:32960
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent peripheral lymph nodes in presence of infection OMIM:600802
Igg4-Related Ophthalmic Disease
Abnormal fifth cranial nerve morphology, Abnormality of infra-orbital nerve, Abnormality of the k... ORPHA:449563
Igg4-Related Dacryoadenitis And Sialadenitis
Tubulointerstitial nephritis, Optic nerve compression, Lymphadenopathy ORPHA:79078
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Cardiomegaly, Splenomegaly, Lymphadenopathy, Macrotia OMIM:256040
Adenocarcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424016
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Neurogenic bladder, Abnormal repetitive mannerisms, Optic nerve hypoplasia, Dysphagia ORPHA:572013

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 Cep85l

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 Cep85l.

No publications found that use IMPC mice or data for Cep85l.

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MGI Allele Allele Type Produced
Cep85lem1(IMPC)Mbp Exon Deletion Mice
Cep85ltm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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