Gene Summary

Name:
CUB and Sushi multiple domains 1
Synonyms:
N/A

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
increased circulating creatinine level Csmd1em1(IMPC)Wtsi HOM Early adult 2.01×10-07
abnormal thoracic cage shape Csmd1em1(IMPC)Wtsi HOM Early adult 3.37×10-05

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Viewing: all phenotypes

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 Skull Dorso Ventral Orientation

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

Anti-nuclear antibody assay

Images

6 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Forepaw

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

DSS Histology

Images

8 Images

Eye Morphology

Images Slit Lamp

1 Images

Ear epidermis immunophenotyping

Images

12 Images

Legacy Phenotype Associated Images

View all 70 images

Human diseases caused by Csmd1 mutations

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

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

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

The table below shows human diseases predicted to be associated to Csmd1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Severe Primary Trimethylaminuria
Aggressive behavior, Negative affectivity, Depression, Emotional lability, Obsessive-compulsive t... ORPHA:468726
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Large for gestational age, Bruxism, Aggressive behavior ORPHA:356996
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Brunner Syndrome
Kinetic tremor, Impulsivity, Aggressive behavior, Self-injurious behavior, Low frustration tolerance OMIM:300615
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Tremor, Abnormal ... ORPHA:3077
Edema, Familial Idiopathic, Prepubertal
Irritability, Diabetes mellitus OMIM:129840
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity, Maturity-onset diabetes of the young OMIM:613375
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Emotional lability, Obesity OMIM:309585
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Obesity, Limb dystonia OMIM:620270
Leptin Receptor Deficiency
Diabetes mellitus, Abnormal eating behavior, Aggressive behavior, Obesity, Emotional lability, Po... OMIM:614963
Stiff Person Spectrum Disorder
Exaggerated startle response, Diabetes mellitus, Falls, Difficulty walking, Emotional lability ORPHA:3198
Adiposis Dolorosa
Obesity, Depression OMIM:103200
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior ORPHA:208441
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity ORPHA:71529
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive b... OMIM:613670
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Overweight, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620065
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Tremor, Hyperinsulinemia, Increased body weight, Agitation, Fasting hypogl... ORPHA:276608
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Polyphagia, Obesity, Tall stature OMIM:618406
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Hyperinsulinemia, Obesity, Hyperglycemia, Polyphagia ORPHA:329249
Obesity And Hypopigmentation
Overgrowth, Hyperinsulinemia, Polyphagia, Obesity OMIM:620195
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Large for gestational age, Re... ORPHA:324575
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Hyperinsulinemic Hypoglycemia, Familial, 1
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Large for gestational age OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestational age OMIM:601820
Intellectual Developmental Disorder, X-Linked 108
Overweight, Broad-based gait, Difficulty walking, Attention deficit hyperactivity disorder OMIM:301024
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Exaggerated startle response, Inappropriate behavior, Dystonia ORPHA:309246
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Agitation,... ORPHA:276580
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity disorder, Polyphagia ORPHA:369873
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Intellectual Developmental Disorder, Autosomal Recessive 46
Ataxia, Large for gestational age, Aggressive behavior, Self-injurious behavior, Agitation OMIM:616116
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity, Depression ORPHA:276630
Coronary Artery Disease, Autosomal Dominant, 1
Diabetes mellitus, Obesity OMIM:608320
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
11P15.4 Microduplication Syndrome
Obesity, Aggressive behavior ORPHA:300305
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:617872
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia, Obesity OMIM:613886
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Obesity Due To Prohormone Convertase I Deficiency
Hyperinsulinemia, Obesity, Hypoglycemic seizures, Failure to thrive, Polyphagia, Childhood-onset ... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hyperinsulinemia, Obesity, Hypoglycemic seizures, Failure to thrive, Polyphagia, Childhood-onset ... ORPHA:71526
Leukodystrophy, Hypomyelinating, 13
Irritability, Exaggerated startle response, Failure to thrive, Ataxia OMIM:616881
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hyperglycemia, Abdominal obesity, Increased body weight, Depression OMIM:615954
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... OMIM:300539
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Diabetes mellitus, Small for gestational age, Increased body weight, Type II diabetes mellitus, A... OMIM:274300
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity, Attention deficit hyperactivity disorder OMIM:618725
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Agitation, Fasting hypoglycem... ORPHA:276575
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Bardet-Biedl Syndrome 22
Polyphagia, Obesity, Large for gestational age OMIM:617119
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Restlessness, Resting tremor, Dystonia, Ataxia, Tremor, Obesity, Choreoathetosis, Shuffling gait,... OMIM:300055
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity OMIM:614662
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Impulsivity, Increased body weight, Hand tremor, Gait disturbance, Attention deficit hyperactivit... ORPHA:589905
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Hyperuricemia OMIM:617056
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Broad-based gait, Ataxia, Obesity, Inappropriate laughter, Polyphagia ORPHA:411515
Pigmented Nodular Adrenocortical Disease, Primary, 4
Emotional lability, Diabetes mellitus, Increased body weight, Depression OMIM:615830
Mehmo Syndrome
Diabetes mellitus, Agitation, Obesity ORPHA:85282
Hyperinsulinism Due To Ucp2 Deficiency
Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Recurrent hypoglycemia, ... ORPHA:276556
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Overweight, Tremor, Depression, Gait disturbance, Abnormal repetitive mannerisms, Self-mutilation ORPHA:457240
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia OMIM:617744
Idiopathic Intracranial Hypertension
Abnormal emotion, Obesity, Depression ORPHA:238624
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Inability to walk, Exaggerated startle response, Depression OMIM:620114
Stiff-Person Syndrome
Exaggerated startle response, Diabetes mellitus, Opisthotonus, Depression OMIM:184850
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor... OMIM:608643
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:301013
Intellectual Developmental Disorder With Autism And Macrocephaly
Overweight, Recurrent hand flapping, Pica, Tall stature OMIM:615032
Fanconi Renotubular Syndrome 3
Aminoaciduria, Elevated circulating creatinine concentration OMIM:615605
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity, Polyphagia, Self-mutilation, Aggressive behavior OMIM:616521
Morgagni-Stewart-Morel Syndrome
Action tremor, Diabetes mellitus, Obesity, Depression ORPHA:77296
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Tremor, Fasting hyperinsulinemia, Hyperinsulinemi... ORPHA:97279
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia, Polyphagia, Obesity OMIM:617885
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Tremor, Hyperinsulinemia, Increased body weight, Glycosuria, Agitation... ORPHA:263455
Preeclampsia
Elevated circulating creatinine concentration ORPHA:275555
14Q11.2 Microduplication Syndrome
Polyphagia, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior ORPHA:261229
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Large for gestational age, Hypoglycemic seizures, Truncal obesity, Neona... ORPHA:293964
Obesity Due To Leptin Receptor Gene Deficiency
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Obesity, Emotional lability, Polyphagia ORPHA:179494
48,Xxyy Syndrome
Ataxia, Tremor, Obesity, Depression, Type II diabetes mellitus, Attention deficit hyperactivity d... ORPHA:10
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration OMIM:616733
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Inability to walk, Exaggerated startle response, Failure to thrive, Irritability OMIM:617864
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration OMIM:612736
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Temple Syndrome
Small for gestational age, Obesity, Recurrent hypoglycemia, Type II diabetes mellitus, Polyphagia ORPHA:254516
Coenzyme Q10 Deficiency, Primary, 2
Overweight, Bulimia, Obesity OMIM:614651
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Leptin Deficiency Or Dysfunction
Polyphagia, Obesity OMIM:614962
Immunodeficiency 61
Obesity, Attention deficit hyperactivity disorder OMIM:300310
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Ataxia, Aggressive behavior, Obesity, Low frustration tolerance, Abnormal temper t... ORPHA:163681
Mody
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... ORPHA:552
Wilson Disease
Aggressive behavior, Hypersexuality, Increased body weight, Depression, Weight loss, Difficulty w... ORPHA:905
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Osteopetrosis, Autosomal Recessive 9
Elevated circulating creatinine concentration, Hyperkalemia OMIM:620366
Hypouricemia, Renal, 1
Elevated circulating creatinine concentration, Hypouricemia OMIM:220150
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612924
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Bardet-Biedl Syndrome 9
Obesity, Truncal obesity, Hyperglycemia, Polydipsia, Polyphagia OMIM:615986
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612926
Smith-Magenis Syndrome
Hyperactivity, Self hugging, Increased body weight, Head-banging, Onychotillomania, Abnormal repe... OMIM:182290
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walking ORPHA:100924
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tremor, Tongue thrusting, Obes... ORPHA:98794
Angelman Syndrome Due To A Point Mutation
Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, Obesity, Inappropriate laug... ORPHA:411511
Wagro Syndrome
Aggressive behavior, Obesity, Agitation, Low frustration tolerance, Compulsive behaviors, Emotion... OMIM:612469
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine ORPHA:54057
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
X-Linked Intellectual Disability, Hedera Type
Inability to walk, Unsteady gait, Obesity, Dysmetria, Gait disturbance, Action tremor ORPHA:93952
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration OMIM:620138
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Severe temper tantrums, Obesity, Stereotypical hand wringing OMIM:619854
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612925
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body mass index, Broad-based gait, Increased body weight OMIM:614450
Congenital Disorder Of Glycosylation, Type Ih
Elevated circulating creatinine concentration, Hypoalbuminemia OMIM:608104
Acrodysostosis 2 With Or Without Hormone Resistance
Hyperactivity, Diabetes mellitus, Obesity OMIM:614613
48,Xxxy Syndrome
Tremor, Obesity, Irritability, Type II diabetes mellitus, Attention deficit hyperactivity disorde... ORPHA:96263
Pituitary Adenoma 4, Acth-Secreting
Impaired glucose tolerance, Obesity, Glucose intolerance, Abdominal obesity, Emotional lability OMIM:219090
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... OMIM:613095
Marbach-Schaaf Neurodevelopmental Syndrome
Torticollis, Hemidystonia, Aggressive behavior, Tremor, Obesity, Attention deficit hyperactivity ... OMIM:619680
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Agitation OMIM:618056
Relapsing Fever
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:91547
Sickle Cell Anemia
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia ORPHA:232
Tay-Sachs Disease
Exaggerated startle response, Dystonia, Tremor, Inability to walk, Dysmetria, Depression, Gait di... ORPHA:845
Adrenocortical Carcinoma
Irritability, Diabetes mellitus, Increased body weight, Weight loss ORPHA:1501
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating creatine kinase concentration, Elevated circulating long chain fatty acid co... OMIM:608836
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration OMIM:614376
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased body weight, Depression, Glucose intolerance, Abdominal obesity, Emotional lability, Mania ORPHA:189427
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Self-injurious behavior, Increased body weight, Aggressive behavior OMIM:300860
Blue Diaper Syndrome
Recurrent hypoglycemia, Increased body weight, Increased proinsulin:insulin ratio ORPHA:94086
Obesity Due To Congenital Leptin Deficiency
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Polyphagia, Obesity ORPHA:66628
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response, Overgrowth OMIM:300607
Angelman Syndrome
Hyperactivity, Broad-based gait, Ataxia, Obesity, Limb tremor, Progressive gait ataxia, Paroxysma... OMIM:105830
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabe... ORPHA:2298
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:235400
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration ORPHA:79126
Histidinemia
Histidinuria, Hyperhistidinemia OMIM:235800
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration ORPHA:90060
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Failure to thrive OMIM:618201
Thrombotic Thrombocytopenic Purpura, Hereditary
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:274150
Adiposis Dolorosa
Obesity, Depression ORPHA:36397
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Polyphagia, Obesity, Hypoglycemic seizures OMIM:609734
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:154230
Congenital Disorder Of Glycosylation, Type Iit
Decreased serum creatinine, Decreased HDL cholesterol concentration, Hypotriglyceridemia OMIM:618885
Sotos Syndrome
Neonatal hypoglycemia, Aggressive behavior, Increased body weight, Glucose intolerance, Overgrowt... OMIM:117550
Autosomal Recessive Spastic Paraplegia Type 11
Ataxia, Overweight, Inability to walk, Obesity, Gait disturbance, Dysphagia, Emotional lability ORPHA:2822
Aapoaiv Amyloidosis
Hyperlipidemia, Elevated circulating creatinine concentration ORPHA:439232
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Aminoaciduria, Hypokal... ORPHA:411634
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Increased blood urea nitrogen ORPHA:230
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:85450
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:223900
Ataxia-Oculomotor Apraxia 4
Ataxia, Obesity, Dystonia OMIM:616267
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hyperuricemia OMIM:174000
Asparagine Synthetase Deficiency
Tremor, Irritability, Exaggerated startle response, Failure to thrive OMIM:615574
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulatin... ORPHA:36234
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Exaggerated startle response OMIM:609541
Bardet-Biedl Syndrome 6
Diabetes mellitus, Obesity OMIM:605231
Senior-Loken Syndrome 1
Elevated circulating creatinine concentration OMIM:266900
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Obesity, Reactive hypoglycemia OMIM:600955
Magel2-Related Prader-Willi-Like Syndrome
Impulsivity, Increased body weight, Abdominal obesity, Type II diabetes mellitus, Abnormal temper... ORPHA:398069
Resistance To Thyrotropin-Releasing Hormone Syndrome
Overweight, Depression ORPHA:99832
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Ataxia OMIM:618598
Narcolepsy 7
Type II diabetes mellitus, Obesity OMIM:614250
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Difficulty walking ORPHA:320406
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Elevated circulating creatinine concentration ORPHA:247691
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Exaggerated startle response OMIM:617281
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:49041
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Irritability, Exaggerated startle response, Dysphagia OMIM:618367
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Broad-based gait, Ataxia, Exaggerated startle response, Dystonia ORPHA:438216
Papillorenal Syndrome
Elevated circulating creatinine concentration OMIM:120330
Multiple Myeloma
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia ORPHA:29073
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir... ORPHA:90038
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Glycosuria, Diabetes mellitus, Hypoglycemia, Large for gestational age OMIM:616026
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Dysphagia OMIM:617301
Plaa-Associated Neurodevelopmental Disorder
Impaired oropharyngeal swallow response, Exaggerated startle response, Failure to thrive, Dystonia ORPHA:521426
1P21.3 Microdeletion Syndrome
Abnormal eating behavior, Aggressive behavior, Obesity, Self-injurious behavior, Self-mutilation ORPHA:293948
Oligomeganephronia
Elevated circulating creatinine concentration ORPHA:2260
Abdominal Obesity-Metabolic Syndrome 4
Type II diabetes mellitus, Obesity OMIM:618620
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration ORPHA:730
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Failure to thrive, Dysphagia OMIM:617527
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Cushing Disease
Diabetes mellitus, Impaired glucose tolerance, Increased body weight, Depression, Truncal obesity... ORPHA:96253
Cardiogenic Shock
Elevated circulating creatinine concentration ORPHA:97292
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration OMIM:617478
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response OMIM:620327
Sandhoff Disease
Exaggerated startle response, Ataxia OMIM:268800
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Self-in... ORPHA:353281
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration ORPHA:340
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Recurrent hypoglycemia, Fasting hypoglycemia, Increased body weight, Ketotic hypoglycemia ORPHA:79240
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circulating creatin... ORPHA:99826
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Renal Cysts And Diabetes Syndrome
Elevated circulating creatinine concentration, Hyperuricemia OMIM:137920
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Hypoglycemia, Increased body weight, Fasting hypoglycemia ORPHA:264580
Pauci-Immune Glomerulonephritis
Elevated circulating creatinine concentration ORPHA:93126
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Dystonia ORPHA:79255
Cushing Syndrome Due To Ectopic Acth Secretion
Diabetes mellitus, Impaired glucose tolerance, Anorexia, Increased body weight, Weight loss, Depr... ORPHA:99889
Igg4-Related Kidney Disease
Elevated circulating creatinine concentration, Decreased retinol-binding protein level, Elevated ... ORPHA:449395
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response OMIM:253800
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Self-in... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Self-in... ORPHA:353277
Yellow Fever
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration... ORPHA:99829
Tubulointerstitial Nephritis And Uveitis Syndrome
Aminoaciduria, Elevated circulating creatinine concentration, Elevated circulating C-reactive pro... ORPHA:91500
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating... OMIM:619534
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Broad-based gait, Exaggerated startle response, Dystonia, Inability to walk, Dysphagia, Stereotyp... ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Abnormal repetitive mannerisms, Attention deficit hyperactivity dis... OMIM:619522
Hellp Syndrome
Increased body weight ORPHA:244242
Carney Complex
Abdominal obesity, Increased body weight, Tall stature ORPHA:1359

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 Csmd1

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 Csmd1.