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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
decreased anxiety-related response Cep85lem1(IMPC)Mbp HOM   Early adult 2.39×10-05
enlarged kidney Cep85lem1(IMPC)Mbp HOM Early adult 0.00
abnormal skin morphology Cep85lem1(IMPC)Mbp HOM Early adult 0.00
enlarged lymph nodes Cep85lem1(IMPC)Mbp HOM Early adult 0.00
abnormal lymph node 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 8.06×10-05
abnormal startle reflex Cep85lem1(IMPC)Mbp HOM Early adult 1.27×10-06
abnormal auditory brainstem response Cep85lem1(IMPC)Mbp HOM   Early adult 1.83×10-06
abnormal kidney morphology Cep85lem1(IMPC)Mbp HOM Early adult 0.00
decreased prepulse inhibition Cep85lem1(IMPC)Mbp HOM Early adult 0.00
decreased thigmotaxis Cep85lem1(IMPC)Mbp HOM   Early adult 8.32×10-05

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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 Lateral Orientation

9 Images

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X-ray

XRay Images Whole Body Dorso Ventral

27 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
Aggressive behavior, Depression, EEG abnormality, Torticollis OMIM:618873
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Motor stereotypy, Neurogenic bladder, Dysphagia, Optic nerve hypoplasia 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
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... OMIM:617610
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly, Anorexia ORPHA:52416
Immunodeficiency 38 With Basal Ganglia Calcification
Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy OMIM:616126
Hepatorenocardiac Degenerative Fibrosis
Hyperechogenic kidneys, Hepatosplenomegaly, Reduced renal corticomedullary differentiation, Hyper... OMIM:619902
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Hepatomegaly... OMIM:613496
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Enlarged kidney OMIM:615285
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
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
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Nephronophthisis 3
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, R... OMIM:604387
Nephronophthisis 16
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Polycystic kidney dysplasi... OMIM:615382
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Emotional lability, Exaggerated startle response OMIM:617028
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy OMIM:601382
Mohr-Tranebjaerg Syndrome
Optic atrophy, Prelingual sensorineural hearing impairment, Generalized dystonia, Abnormality of ... ORPHA:52368
Aa Amyloidosis
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Proteinuria, Abnorma... ORPHA:85445
Immunodeficiency 104
Recurrent otitis media, Splenomegaly, Otitis media, Lymphadenopathy, Hepatomegaly OMIM:608971
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Abnormal fear-induced behavior, Focal EEG discharges with secondary generalizatio... ORPHA:3077
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Facial pa... OMIM:617519
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... ORPHA:320401
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Aggressive behavior, Hearing impairment, Pseudobulbar paralysis ORPHA:208441
Ravine Syndrome
Abnormal auditory evoked potentials, Anorexia ORPHA:99852
Meckel Syndrome, Type 8
Low-set ears, Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys OMIM:613885
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly, Anorexia ORPHA:86893
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Absence of renal cortic... OMIM:602088
Renal Dysplasia
Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure... ORPHA:93108
Kerion Celsi
Lymphadenopathy ORPHA:499
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:619126
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Splenomegaly, ... OMIM:263200
Granulomatous Slack Skin
Acute kidney injury, Nephrocalcinosis, Abnormal lymph node morphology ORPHA:33111
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Enlarged kidney, Nephroblastoma OMIM:618272
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Neuromuscular dysphagia, Decreased ne... ORPHA:206443
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Irritability, Exaggera... OMIM:616881
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormal lymph node morphology, Papillary renal cell carcinoma, Chronic noninfectious lymphadenop... ORPHA:97290
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Oral-pharyngeal dysphagia, Anorexia ORPHA:100083
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Nephritis, Optic atrophy, Bone marrow hypocellularity, Spleno... OMIM:617303
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Splenomegaly, Abnormal lymphatic vessel morphology, Abnormality of the lympha... ORPHA:464329
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Hepatomegaly ORPHA:100024
Mast Cell Sarcoma
Hypoplasia of the ear cartilage, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphad... ORPHA:66661
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent urinary tract infections, Recurrent otitis media, Hepatosplenomegaly, Stage 5 chronic k... OMIM:615559
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Recurrent otitis media, Splenomegaly, Lymphadenopathy ORPHA:444463
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Asplenia, Enlarged kidney, Cystic renal dysplasia OMIM:615415
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Dystonia, Inappropriate behavior, Exaggerated startle response ORPHA:309246
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Lymphadenopathy OMIM:618852
Diaphanospondylodysostosis
Low-set ears, Nephrogenic rest, Horseshoe kidney, Nephroblastomatosis, Enlarged kidney, Cystic re... OMIM:608022
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Low-set ears, Renal dysplasia, Renal insufficiency, Overfolded helix, Hydronephrosis, Cardiomegal... OMIM:608836
Paternal Uniparental Disomy Of Chromosome 1
Proteinuria, Polyphagia, Membranoproliferative glomerulonephritis, Macroscopic hematuria, Enlarge... ORPHA:251004
Renal-Hepatic-Pancreatic Dysplasia 1
Renal dysplasia, Polysplenia, Stage 5 chronic kidney disease, Renal insufficiency, Splenomegaly, ... OMIM:208540
Pleural Mesothelioma
Hepatomegaly, Dysphagia, Lymphadenopathy ORPHA:50251
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Truncal titubation, Decreased motor n... OMIM:610532
H Syndrome
Hearing impairment, Hepatosplenomegaly, Lymphadenopathy, Abnormality of the kidney, Micropenis, E... ORPHA:168569
Familial Papillary Or Follicular Thyroid Carcinoma
Papillary renal cell carcinoma, Chronic noninfectious lymphadenopathy, Abnormal lymph node morpho... ORPHA:319487
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Rhabdoid Tumor
Hematuria, Lymphadenopathy, Renal neoplasm, Irritability ORPHA:69077
Lymphoid Interstitial Pneumonia
Hepatomegaly, Mediastinal lymphadenopathy, Enlarged kidney ORPHA:79128
Acrocephalopolydactylous Dysplasia
Low-set ears, Polysplenia, Hepatomegaly, Abnormal pinna morphology, Cystic renal dysplasia, Enlar... OMIM:200995
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent otitis media, Fluctuating splenomegaly, Lymphadenopathy OMIM:619220
Immunodeficiency 27A
Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Anorexia, Enlarged mesenteric lymph node OMIM:209950
Igg4-Related Kidney Disease
Chronic kidney disease, Acute kidney injury, Lymphadenitis, Urinary bladder inflammation, Urethri... ORPHA:449395
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy, Anorexia, Hepatomegaly ORPHA:391
Follicular Lymphoma
Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy ORPHA:545
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Depression, Hearing impairment, Exaggerated startle response OMIM:620114
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Oculogyric crisis, Limb dystonia, Emotional lability, Irritability, Tongue thrusti... OMIM:608643
Adult-Onset Autosomal Dominant Leukodystrophy
Upper limb postural tremor, Abnormal auditory evoked potentials, Urinary retention, Abnormality o... ORPHA:99027
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Recurrent otitis media, Hepatosplenomegaly, Lymphadenopathy OMIM:618982
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Exaggerated startle response ORPHA:163985
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent otitis media, Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy OMIM:300853
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:100025
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Splenomegaly, Nephrolit... OMIM:232220
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydronephrosis, Urethral atresia, Enlarged kidney OMIM:314390
Immunodeficiency, Common Variable, 2
Recurrent otitis media, Splenomegaly, Follicular hyperplasia, Lymphadenopathy, Hepatomegaly OMIM:240500
Stiff Person Spectrum Disorder
Emotional lability, Exaggerated startle response ORPHA:3198
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly, Hearing impairment, Lymphadenopathy ORPHA:858
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen... OMIM:601455
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Niemann-Pick Disease, Type A
Splenomegaly, Irritability, Lymphadenopathy, Hepatomegaly, Athetosis OMIM:257200
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Low-frequency sensorineural hearing impairment, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy OMIM:613101
Hyperparathyroidism, Transient Neonatal
Low-set ears, Unilateral renal agenesis, Splenic cyst, Enlarged kidney OMIM:618188
Kimura Disease
Follicular hyperplasia, Lymphadenopathy ORPHA:482
Activated Pi3K-Delta Syndrome
Recurrent tonsillitis, Hearing impairment, Recurrent otitis media, Splenomegaly, Lymphadenopathy,... ORPHA:397596
Alg9-Cdg
Low-set ears, Hypoplasia of the bladder, Large fleshy ears, Low-set, posteriorly rotated ears, Ab... ORPHA:79328
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Lymphadenopathy OMIM:615513
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
EEG with generalized slow activity, Irritability, Exaggerated startle response, Macrotia, Optic n... OMIM:617864
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:603552
Autosomal Recessive Polycystic Kidney Disease
Low-set ears, Acute kidney injury, Oliguria, Polydipsia, Recurrent urinary tract infections, Hepa... ORPHA:731
Hemihyperplasia-Multiple Lipomatosis Syndrome
Abnormality of the lymphatic system, Enlarged kidney, Nephroblastoma, Microtia ORPHA:276280
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Optic atrophy, Bone marrow hypocellularity, Heparan sulfate excretion in urine, Hepatosplenomegal... ORPHA:505248
Charcot-Marie-Tooth Disease Type 1F
Hand tremor, Decreased nerve conduction velocity, Head tremor, Restless legs, Sensorineural heari... ORPHA:101085
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Abnormal urinary electrolyte concentration, Abnormal lymph node morphology, Decrease... ORPHA:85450
Tyrosinemia, Type I
Nephrocalcinosis, Elevated urinary succinylacetone level, Renal insufficiency, Splenomegaly, Rena... OMIM:276700
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:42642
Helsmoortel-Van Der Aa Syndrome
Enuresis nocturna, Low-set ears, Cupped ear, Recurrent urinary tract infections, Bruxism, Irritab... OMIM:615873
Immunodeficiency 76
Splenomegaly, Lymphadenopathy OMIM:619164
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymph node hypoplasia, Splenomegaly, Otitis media, Aplasia of the thymus, Generalized lymphadenop... OMIM:602450
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolithiasis, Protei... OMIM:232200
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Unilateral conductive hearing impairment, Sensorineural he... ORPHA:100084
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal op... ORPHA:1215
Purine Nucleoside Phosphorylase Deficiency
Decreased urinary urate, Recurrent urinary tract infections, Elevated urinary inosine level, Lymp... OMIM:613179
Immunodeficiency 64 With Lymphoproliferation
Cervical lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Mediastinal lymphade... OMIM:618534
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent urinary tract infections, Recurrent otitis media, Splenomegaly, Lymphadenopathy, Hepato... OMIM:618495
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Splenomegaly, Sensorineural hearing impairment OMIM:611762
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials OMIM:617523
Denys-Drash Syndrome
Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephroblastoma, ... OMIM:194080
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Heme Oxygenase 1 Deficiency
Nephritis, Cervical lymphadenopathy, Hematuria, Proteinuria, Lymphadenopathy, Hepatomegaly, Asplenia OMIM:614034
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, De... ORPHA:206436
Classic Mycosis Fungoides
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:2584
Scrub Typhus
Renal insufficiency, Splenomegaly, Tremor, Lymphadenopathy ORPHA:83317
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Stiff-Person Syndrome
Opisthotonus, Depression, Exaggerated startle response OMIM:184850
Sandhoff Disease
Increased urinary N-acetylglucosamine-rich oligosaccharide level, Hepatosplenomegaly, Cardiomegal... OMIM:268800
Endocrine-Cerebroosteodysplasia
Low-set ears, Microphallus, Hyperechogenic kidneys, Hypospadias, Enlarged kidney OMIM:612651
Rosaï-Dorfman Disease
Lymphadenopathy ORPHA:158014
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Splenomegaly, Glomerulonephritis, Lymphadenopathy OMIM:619375
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Hydronephrosis, Hearing impairment, Tremor, Exaggerated startle response OMIM:620327
Sézary Syndrome
Hepatomegaly, Splenomegaly, Tremor, Lymphadenopathy ORPHA:3162
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Abnormal lymph node morphology OMIM:612840
Mucolipidosis Ii Alpha/Beta
Recurrent otitis media, Splenomegaly, Cardiomegaly, Mucopolysacchariduria, Hepatomegaly, Enlarged... OMIM:252500
Leishmaniasis
Hepatomegaly, Lymphadenopathy, Splenomegaly, Anorexia ORPHA:507
Cinca Syndrome
Progressive sensorineural hearing impairment, Hearing impairment, Hepatosplenomegaly, Papilledema... OMIM:607115
Schnitzler Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:37748
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Heari... OMIM:600501
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center OMIM:606843
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Head titubation, Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Mogs-Cdg
Optic atrophy, Hepatosplenomegaly, Sensorineural hearing impairment, Cardiomegaly, Left ventricul... ORPHA:79330
Caspase 8 Deficiency
Splenomegaly, Lymphadenopathy OMIM:607271
Burkitt Lymphoma
Abnormality of the spleen, Abnormal lymph node morphology ORPHA:543
Porphyria Due To Ala Dehydratase Deficiency
Depression, Hearing impairment, Purple urine, Abnormal fear-induced behavior, Increased urinary p... ORPHA:100924
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Micropenis, Polycystic kidney dysplasia, Enlarged kidney, Renal dysplasia OMIM:613091
Cold Agglutinin Disease
Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color ORPHA:56425
Immunodeficiency 91 And Hyperinflammation
Hepatosplenomegaly, Renal insufficiency, Lymphadenopathy, Membranoproliferative glomerulonephriti... OMIM:619644
Ogden Syndrome
Low-set ears, Recurrent otitis media, Irritability, Protruding ear, Motor stereotypy, Cardiomegal... OMIM:300855
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Immunodeficiency 52
Splenomegaly, Lymphadenopathy OMIM:617514
Beckwith-Wiedemann Syndrome
Nephropathy, Otosclerosis, Visceromegaly, Hearing impairment, Abnormal earlobe morphology, Anteri... ORPHA:116
Tularemia
Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morphology, Otitis media, Lymphadenopat... ORPHA:3392
Immunodeficiency, Common Variable, 1
Recurrent otitis media, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:607594
Beckwith-Wiedemann Syndrome
Nephrocalcinosis, Pancreatic hyperplasia, Renal cortical cysts, Vesicoureteral reflux, Nephroblas... OMIM:130650
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent otitis media, Absent tonsils, Absence of lymph node germinal center ORPHA:277
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:619260
Cerebrotendinous Xanthomatosis
Optic atrophy, Abnormal auditory evoked potentials, Depression, Abnormal motor evoked potentials,... ORPHA:909
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Agitation, Tremor, Exaggerated startle response OMIM:618056
Sandhoff Disease, Infantile Form
Hepatosplenomegaly, Exaggerated startle response ORPHA:309155
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Splenomegaly, Sensorineural hearing impairment, Lymphadenopathy, Hep... ORPHA:3226
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79292
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Optic atrophy, Exaggerated startle response OMIM:609541
Heterotaxy, Visceral, 1, X-Linked
Low-set ears, Renal agenesis, Polysplenia, Horseshoe kidney, Cardiomegaly, Hepatomegaly, Asplenia... OMIM:306955
Multiple Mitochondrial Dysfunctions Syndrome 7
EEG with burst suppression, Irritability, Impulsivity, Hypsarrhythmia, Hyperactivity, Exaggerated... OMIM:620423
Immunodeficiency 54
Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:609981
Immunodeficiency 7
Recurrent otitis media, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:615387
Autoimmune Lymphoproliferative Syndrome, Type Iia
Nephritis, Chronic noninfectious lymphadenopathy, Splenomegaly, Follicular hyperplasia, Lymphaden... OMIM:603909
Immunodeficiency 109 With Lymphoproliferation
Generalized lymphadenopathy, Splenomegaly OMIM:620282
Indolent Systemic Mastocytosis
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:98848
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy OMIM:212050
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Optic disc pallor, Exaggerated startle response ORPHA:320406
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Follicular hyperplasia, Lymphadenopathy OMIM:619846
Aregenerative Anemia
Bone marrow hypocellularity, Depression, Fatigable weakness of skeletal muscles, Emotional labili... ORPHA:101096
Meacham Syndrome
Horseshoe kidney, Enlarged kidney, Accessory spleen OMIM:608978
Hypocomplementemic Urticarial Vasculitis
Renal insufficiency, Splenomegaly, Sensorineural hearing impairment, Hematuria, Proteinuria, Glom... ORPHA:36412
Roifman Syndrome
Recurrent otitis media, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:616651
Nephroblastoma
Hematuria, Lymphadenopathy, Nephroblastoma ORPHA:654
Primary Myelofibrosis
Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Anorexia, Hepatomegaly ORPHA:824
Cockayne Syndrome Type 1
Optic atrophy, Hearing impairment, Renal insufficiency, Abnormality of peripheral nerve conductio... ORPHA:90321
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Multicystic kidney dysplasia, Bifid ureter, Nephroblastoma, Sensorineural hearing impairment, Pro... ORPHA:500095
Developmental And Epileptic Encephalopathy 49
Optic atrophy, Hyperactivity, EEG abnormality, Exaggerated startle response, Macrotia OMIM:617281
Immunodeficiency 105
Hepatosplenomegaly, Absence of lymph node germinal center OMIM:619924
Cinca Syndrome
Hearing impairment, Pseudopapilledema, Splenomegaly, Sensorineural hearing impairment, EEG abnorm... ORPHA:1451
Tay-Sachs Disease
Optic atrophy, Mania, Depression, Hearing impairment, Laryngeal dystonia, Tremor, Exaggerated sta... ORPHA:845
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Nephrocalcinosis, Stage 5 chronic kidney disease, Nephrolithiasis, Proteinuria, Tubulointerstitia... ORPHA:79259
Cockayne Syndrome A
Optic atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Renal in... OMIM:216400
Acute Monoblastic/Monocytic Leukemia
Anorexia, Oliguria, Cervical lymphadenopathy, Progressive hearing impairment ORPHA:514
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center OMIM:608184
Melkersson-Rosenthal Syndrome
Facial palsy, Oligosacchariduria, Abnormal autonomic nervous system physiology, Lymphadenopathy ORPHA:2483
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, EEG with burst suppression, Enlarged kidney OMIM:261740
Boutonneuse Fever
Cervical lymphadenopathy, Renal insufficiency, Lymphadenopathy ORPHA:83313
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Abnormal lymph node morphology, Hepatosplenomegaly, Lymphadenopathy, Nephrotic syn... ORPHA:911
Legionnaires Disease
Bone marrow hypocellularity, Renal insufficiency, Splenomegaly, Hematuria, Proteinuria, Lymphaden... ORPHA:549
Thyroid Lymphoma
Dysphagia, Lymphadenopathy ORPHA:97285
Spastic Tetraplegia And Axial Hypotonia, Progressive
Low-set ears, Posteriorly rotated ears, Exaggerated startle response OMIM:618598
Lymphoproliferative Syndrome 2
Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy OMIM:615122
Asparagine Synthetase Deficiency
EEG with burst suppression, Tremor, Irritability, Simple ear, Hypsarrhythmia, Exaggerated startle... OMIM:615574
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Splenomegaly, Follicular hyperplasia OMIM:614470
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hearing impairment, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, Hep... OMIM:609136
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the lymphatic system, Abnormality of the kidney, Abnormal lymph node morphology ORPHA:54251
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Partial development of the penile shaft, Exaggerated startle response OMIM:608800
Roifman Syndrome
Recurrent otitis media, Hepatosplenomegaly, Lymphadenopathy ORPHA:353298
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy OMIM:618987
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Low-set ears, Hepatosplenomegaly, Posteriorly rotated ears, Lymphadenopathy OMIM:619750
Cockayne Syndrome B
Optic atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Renal in... OMIM:133540
Trisomy 10P
Low-set ears, Abnormal auditory evoked potentials, EEG with burst suppression, Multiple renal cys... ORPHA:171929
Immunodeficiency 10
Recurrent urinary tract infections, Recurrent otitis media, Splenomegaly, Lymphadenopathy, Hepato... OMIM:612783
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Gm1 Gangliosidosis Type 1
Low-set ears, Hearing impairment, Hepatosplenomegaly, Urinary glycosaminoglycan excretion, Exagge... ORPHA:79255
Glycine Encephalopathy With Normal Serum Glycine
Low-set ears, Optic atrophy, Dysphagia, Exaggerated startle response OMIM:617301
Adult Krabbe Disease
Urinary incontinence, Delayed brainstem auditory evoked response conduction time, EEG abnormality ORPHA:206448
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Lymphadenopathy OMIM:150550
Griscelli Syndrome Type 2
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79477
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent tonsillitis, Lymphadenitis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Nephroti... OMIM:618935
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Papa Syndrome
Proteinuria, Lymphadenopathy ORPHA:69126
Pseudomyxoma Peritonei
Lymphadenopathy ORPHA:26790
Plaa-Associated Neurodevelopmental Disorder
Optic atrophy, Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Hypsarrhythmi... ORPHA:521426
Castleman Disease
Ureteral obstruction, Renal insufficiency, Follicular hyperplasia, Hematuria, Generalized lymphad... ORPHA:160
Anaplastic Thyroid Carcinoma
Dysphagia, Lymphadenopathy ORPHA:142
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Absent tonsils, Lymph node hypoplasia ORPHA:276
Immune Dysregulation, Autoimmunity, And Autoinflammation
Cervical lymphadenopathy, Inguinal lymphadenopathy OMIM:620514
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Gamma-Heavy Chain Disease
Hepatomegaly, Dysphagia, Splenomegaly, Lymphadenopathy ORPHA:100026
American Trypanosomiasis
Hepatomegaly, Aganglionic megacolon, Splenomegaly, Lymphadenopathy ORPHA:3386
Aggressive Systemic Mastocytosis
Hypersplenism, Hepatosplenomegaly, Lymphadenopathy, Anorexia ORPHA:98850
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Chronic noninfectious lymphadenopathy, Splenomegaly, Follicular hyperplasia OMIM:601859
Waldenström Macroglobulinemia
Hearing impairment, Renal insufficiency, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anorexia, M... ORPHA:33226
Leprechaunism
Low-set ears, Nephrocalcinosis, Long penis, Protruding ear, Hypercalciuria, Enlarged ovaries, Hep... ORPHA:508
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Neuroblastoma
Elevated urinary homovanillic acid, Elevated urinary vanillylmandelic acid, Irritability, Elevate... ORPHA:635
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Omenn Syndrome
Hepatomegaly, Nephrotic syndrome, Splenomegaly, Lymphadenopathy ORPHA:39041
Desmoplastic Small Round Cell Tumor
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:83469
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:85414
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Griscelli Syndrome
Hepatomegaly, Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy ORPHA:381
Acute Promyelocytic Leukemia
Hematuria, Addictive alcohol use, Lymphadenopathy, Anorexia ORPHA:520
Medullary Thyroid Carcinoma
Dysphagia, Lymphadenopathy ORPHA:1332
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:308240
Thymic Neuroendocrine Tumor
Neoplasm of the thymus, Calcium nephrolithiasis, Mediastinal lymphadenopathy, Chronic noninfectio... ORPHA:97289
Lymphatic Filariasis
Urethral obstruction, Lymphadenitis, Abnormality of the lymphatic system, Hematuria, Proteinuria,... ORPHA:2035
Pediatric Systemic Lupus Erythematosus
Nephritis, Abnormality of the urinary system, Dark urine, Renal insufficiency, Hematuria, Protein... ORPHA:93552
Immunodeficiency 97 With Autoinflammation
Recurrent urinary tract infections, Recurrent otitis media, Hepatosplenomegaly, Splenomegaly, Lym... OMIM:619802
Simpson-Golabi-Behmel Syndrome, Type 1
Duplication of renal pelvis, Hearing impairment, Polysplenia, Anterior creases of earlobe, Right ... OMIM:312870
Proteus Syndrome
Low-set ears, Long penis, Thymus hyperplasia, Narrow internal auditory canal, Neoplasm of the thy... ORPHA:744
Felty Syndrome
Bone marrow hypocellularity, Recurrent urinary tract infections, Splenomegaly, Lymphadenopathy, H... ORPHA:47612
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Lymphadenopathy, Splenomegaly, Irritability OMIM:267700
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy ORPHA:2221
Cardiac-Urogenital Syndrome
Accessory spleen, Penoscrotal hypospadias, Micropenis, Patent urachus, Enlarged kidney OMIM:618280
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatosplenomegaly, Splenomegaly, Irritability, Lymphadenopathy, Hepatomegaly OMIM:603553
Familial Hemophagocytic Lymphohistiocytosis
Splenomegaly, Sensorineural hearing impairment, Lymphadenopathy, Hepatomegaly, Abnormal renal phy... ORPHA:540
Mevalonic Aciduria
Low-set ears, Fluctuating splenomegaly, Hepatosplenomegaly, Elevated urine mevalonic acid level, ... OMIM:610377
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Low-set ears, Optic atrophy, Dysphagia, Exaggerated startle response, Posteriorly rotated ears OMIM:617527
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Abnormal pinna morphology, Exaggerated startle response ORPHA:438216
Tafro Syndrome
Hepatosplenomegaly, Renal insufficiency, Splenomegaly, Lymphadenopathy, Hepatomegaly ORPHA:457077
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Chediak-Higashi Syndrome
Decreased nerve conduction velocity, Splenomegaly, Tremor, Lymphadenopathy, Hepatomegaly OMIM:214500
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Recurrent otitis media, Absent peripheral lymph nodes in presence of infection ORPHA:98813
Combined Oxidative Phosphorylation Deficiency 58
Low-set ears, Optic atrophy, Exaggerated startle response, Lacticaciduria OMIM:620451
Cyclic Neutropenia
Cervical lymphadenopathy, Recurrent tonsillitis, Otitis media, Lymphadenopathy ORPHA:2686
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Splenomegaly, Chronic otitis media, Lymphadenopathy ORPHA:169090
Diffuse Cutaneous Mastocytosis
Hepatomegaly, Abnormality of the spleen, Lymphadenopathy ORPHA:79456
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Recurrent otitis media, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:301078
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:619183
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Dysphagia, Irritability, Exaggerated startle response, EEG with generalized slow activity OMIM:618367
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:616100
Adult-Onset Still Disease
Bone marrow hypocellularity, Splenomegaly, Proteinuria, Generalized lymphadenopathy, Lymphadenopa... ORPHA:829
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy OMIM:618048
Drug Reaction With Eosinophilia And Systemic Symptoms
Tubulointerstitial nephritis, Nephrotic syndrome, Renal insufficiency, Lymphadenopathy ORPHA:139402
Lig4 Syndrome
Hepatomegaly, Hypoplasia of penis, Lymphadenopathy ORPHA:99812
Mixed Connective Tissue Disease
Nephropathy, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:809
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia ORPHA:100080
Cherubism
Marcus Gunn pupil, Optic neuropathy, Submandibular lymph node enlargement OMIM:118400
Hyper-Igd Syndrome
Lymphadenitis, Hepatosplenomegaly, Splenomegaly, Elevated urine mevalonic acid level, Renal angio... OMIM:260920
Lymphoproliferative Syndrome 1
Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:613011
Lymphangioleiomyomatosis
Optic atrophy, Abnormal urinary color, Pulmonary lymphangiomyomatosis, Abnormality of the lymphat... ORPHA:538
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Emotional lability, Nephrolithiasis OMIM:219090
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Lymphadenopathy OMIM:304790
Graft Versus Host Disease
Hepatosplenomegaly, Lymphadenopathy, Irritability ORPHA:39812
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenitis, Vesicoureteral reflux, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:615895
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424019
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Low-set ears, Enuresis, Renal agenesis, Grade III vesicoureteral reflux, Ureteropelvic junction o... OMIM:619522
Mend Syndrome
Low-set ears, Aggressive behavior, Abnormal auditory evoked potentials, Hyperactivity ORPHA:401973
Omenn Syndrome
Hepatomegaly, Hypoplasia of the thymus, Splenomegaly, Lymphadenopathy OMIM:603554
Familial Mediterranean Fever
Nephropathy, Nephrocalcinosis, Depression, Splenomegaly, Proteinuria, Lymphadenopathy, Nephrotic ... ORPHA:342
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Lymphadenopathy ORPHA:343
Immunodeficiency, Common Variable, 8, With Autoimmunity
Recurrent otitis media, Generalized lymphadenopathy, Splenomegaly, Lymphadenopathy OMIM:614700
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Hepatosplenomegaly, Lymphadenopathy ORPHA:169154
Klatskin Tumor
Hepatomegaly, Lymphadenopathy ORPHA:99978
Histiocytosis-Lymphadenopathy Plus Syndrome
Hearing impairment, Cervical lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Sensorineural hea... OMIM:602782
Neuroendocrine Tumor Of The Rectum
Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia ORPHA:100082
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:436159
Macrophage Activation Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:158061
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Enlarged tonsils, Absence of lymph node germinal center, Splenomegaly OMIM:308230
Agammaglobulinemia, X-Linked
Recurrent otitis media, Lymph node hypoplasia, Hearing impairment, Recurrent urinary tract infect... OMIM:300755
Q Fever
Hepatosplenomegaly, Splenomegaly, Hematuria, Lymphadenopathy, Anorexia, Hepatomegaly ORPHA:781
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Optic atrophy, Bone marrow hypocellularity, Recurrent otitis media, Hepatosplenomegaly, Splenomeg... OMIM:615688
Bronchial Neuroendocrine Tumor
Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia ORPHA:97287
Hennekam Syndrome
Low-set ears, Conductive hearing impairment, Horseshoe kidney, Splenomegaly, Lymphadenopathy, Pul... ORPHA:2136
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Exaggerated startle response OMIM:253800
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Enlarged tonsils, Hepatosplenomegaly, Lymphadenopathy OMIM:606367
Kikuchi-Fujimoto Disease
Abnormal lymph node morphology, Cervical lymphadenopathy, Splenomegaly, Generalized lymphadenopat... ORPHA:50918
Multiple Myeloma
Nephropathy, Acute kidney injury, Splenomegaly, Lymphadenopathy, Nephrotic syndrome, Abnormality ... ORPHA:29073
Poems Syndrome
Visceromegaly, Splenomegaly, Papilledema, Lymphadenopathy, Hepatomegaly ORPHA:2905
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent otitis media, Hepatosplenomegaly, Generalized lymphadenopathy, Lymphadenitis OMIM:618986
Autosomal Recessive Malignant Osteopetrosis
Hearing impairment, Optic nerve compression, Otitis media, Tremor, Splenomegaly, Lymphadenopathy,... ORPHA:667
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Abnormality of the urinary system, Conductive hearing impairment, Abnorm... ORPHA:353281
Carney Triad
Mediastinal lymphadenopathy, Lymphadenopathy, Anorexia ORPHA:139411
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Hepatosplenomegaly, Absence of lymph node germinal center, Urinary retention ORPHA:79124
Familial Pancreatic Carcinoma
Hepatosplenomegaly, Lymphadenopathy, Anorexia ORPHA:1333
Congenital Syphilis
Optic atrophy, Hearing impairment, Hepatosplenomegaly, Lymphadenopathy, Nephrotic syndrome ORPHA:499009
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Polysplenia, Profound hearing impairment, Splenomegaly, Hepatomegaly, Lymphaden... OMIM:619418
Acute Interstitial Pneumonia
Lymphadenopathy ORPHA:79126
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:617591
Acute Generalized Exanthematous Pustulosis
Renal insufficiency, Lymphadenopathy ORPHA:293173
Spondyloenchondrodysplasia With Immune Dysregulation
Low-set ears, Recurrent otitis media, Tubulointerstitial fibrosis, Lymphadenopathy OMIM:607944
Malakoplakia
Urinary bladder inflammation, Urinary hesitancy, Follicular hyperplasia, Hematuria, Proteinuria, ... ORPHA:556
Systemic Lupus Erythematosus
Depression, Hematuria, Proteinuria, Lupus nephritis, Lymphadenopathy, Anorexia, Pyuria ORPHA:536
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Lymphadenitis, Splenomegaly, Lymphadenopathy OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Lymphadenitis, Splenomegaly, Lymphadenopathy OMIM:233710
Chédiak-Higashi Syndrome
Decreased nerve conduction velocity, Hepatosplenomegaly, Splenomegaly, Tremor, Lymphadenopathy ORPHA:167
Aicardi-Goutieres Syndrome 7
Splenomegaly, Irritability, Generalized lymphadenopathy, Hepatomegaly, Nephrotic syndrome, Dystonia OMIM:615846
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Lymphadenitis, Splenomegaly, Lymphadenopathy OMIM:233690
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Splenomegaly, Membranous nephropathy, Lymphadenopathy, Tubulointerstitial nephritis, Nephrotic sy... ORPHA:37042
Brucellosis
Depression, Intrarenal abscess, Hypersplenism, Splenomegaly, Glomerulonephritis, Abnormality of t... ORPHA:1304
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Lymphadenopathy, Chronic otitis media, Recurrent urinary tract infections ORPHA:83471
Farber Disease
Hepatosplenomegaly, Lymphadenopathy ORPHA:333
Riddle Syndrome
Enuresis nocturna, Emotional lability, Generalized lymphadenopathy, Otitis media ORPHA:420741
Common Variable Immunodeficiency
Splenomegaly, Lymphadenopathy, Chronic otitis media, Otitis media ORPHA:1572
Coccidioidomycosis
Hearing impairment, Abnormality of the spleen, Renal insufficiency, Lymphadenopathy, Abnormality ... ORPHA:228123
Pancreatoblastoma
Abnormal lymph node morphology ORPHA:677
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Vesicoureteral reflux, Nephrolithiasis, Hydronephrosis, Stereotypical hand wringing, Exaggerated ... ORPHA:438213
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:98849
Behçet Disease
Renal insufficiency, Splenomegaly, Irritability, Glomerulopathy, Lymphadenopathy, Anorexia ORPHA:117
African Trypanosomiasis
Hepatosplenomegaly, Renal insufficiency, Splenomegaly, Tremor, Irritability, Aggressive behavior,... ORPHA:3385
Selective Igm Deficiency
Lymphadenopathy, Lymphadenitis, Otitis media, Recurrent urinary tract infections ORPHA:331235
Autoimmune Lymphoproliferative Syndrome
Bone marrow hypocellularity, Hypersplenism, Renal insufficiency, Splenomegaly, Chronic noninfecti... ORPHA:3261
Primary Sjögren Syndrome
Depression, Renal insufficiency, Glomerulonephritis, Abnormality of the kidney, Abnormality of th... ORPHA:289390
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Low-set ears, Self-injurious behavior, Abnormality of the urinary system, Conductive hearing impa... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Low-set ears, Self-injurious behavior, Abnormality of the urinary system, Conductive hearing impa... ORPHA:353277
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Anorexia ORPHA:100086
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lymphadenopathy OMIM:617099
Sarcoidosis, Susceptibility To, 1
Mediastinal lymphadenopathy, Splenomegaly, Hypercalciuria, Generalized lymphadenopathy, Anorexia,... OMIM:181000
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Lymphadenitis, Splenomegaly, Lymphadenopathy OMIM:306400
Tangier Disease
Hepatosplenomegaly, Facial diplegia, Chronic noninfectious lymphadenopathy, Left ventricular hype... ORPHA:31150
Sarcoidosis
Nephrocalcinosis, Abnormal lymph node morphology, Renal insufficiency, Nephrolithiasis, Hepatomeg... ORPHA:797
Ileal Neuroendocrine Tumor
Hydronephrosis, Lymphadenopathy ORPHA:100078
Lissencephaly 10
Aggressive behavior, Depression, EEG abnormality, Torticollis OMIM:618873
Immunodeficiency 31C
Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:614162
Malt Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:52417
Leptospirosis
Acute kidney injury, Papilledema, Cellular urinary casts, Lymphadenopathy, Anorexia, Hepatomegaly ORPHA:509
Chikungunya
Cervical lymphadenopathy, Depression, Lymphadenopathy ORPHA:324625
Crimean-Congo Hemorrhagic Fever
Emotional lability, Splenomegaly, Hematuria, Proteinuria, Lymphadenopathy, Anorexia, Hepatomegaly... ORPHA:99827
Cushing Syndrome Due To Ectopic Acth Secretion
Depression, Abnormal lymph node morphology, Increased urinary cortisol level, Neoplasm of the thy... ORPHA:99889
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Recurrent otitis media, Absent peripheral lymph nodes in presence of infection OMIM:600802
Neuroendocrine Neoplasm Of Appendix
Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia ORPHA:100079
Blau Syndrome
Nephropathy, Stage 5 chronic kidney disease, Clear cell renal cell carcinoma, Abnormal cranial ne... ORPHA:90340
Immunodeficiency 82 With Systemic Inflammation
Recurrent otitis media, Follicular hyperplasia, Splenomegaly, Cholesteatoma, Lymphadenopathy, Ano... OMIM:619381
Igg4-Related Submandibular Gland Disease
Renal insufficiency, Lymphadenopathy, Abnormality of the kidney ORPHA:449432
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Cervical lymphadenopathy, Lymphadenopathy OMIM:617718
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Hepatosplenomegaly, Lymphadenopathy ORPHA:85408
Immunodeficiency 55
Lymphadenopathy OMIM:617827
Marburg Hemorrhagic Fever
Aggressive behavior, Renal insufficiency, Lymphadenopathy, Anorexia ORPHA:99826
Plague
Depression, Lymphadenitis, Hearing impairment, Splenomegaly, Anorexia, Hepatomegaly, Enlarged mes... ORPHA:707
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Splenomegaly, Lymphadenopathy ORPHA:32960
Igg4-Related Ophthalmic Disease
Abnormal fifth cranial nerve morphology, Lymphadenopathy, Abnormality of the kidney, Abnormality ... ORPHA:449563
Igg4-Related Dacryoadenitis And Sialadenitis
Tubulointerstitial nephritis, Optic nerve compression, Lymphadenopathy ORPHA:79078
Proteasome-Associated Autoinflammatory Syndrome 1
Recurrent otitis media, Splenomegaly, Cardiomegaly, Lymphadenopathy, Hepatomegaly, Macrotia OMIM:256040
Adenocarcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424016
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Motor stereotypy, Neurogenic bladder, Dysphagia, Optic nerve hypoplasia 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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