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 Lateral Orientation

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

DSS Histology

Images

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

Anti-nuclear antibody assay

Images

6 Images

X-ray

XRay Images Forepaw

14 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
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity ORPHA:468726
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age, Hyperactivity, Aggressive behavior ORPHA:356996
Familial Alzheimer-Like Prion Disease
Depression, Anxiety, Attention deficit hyperactivity disorder, Emotional lability ORPHA:280397
Azotemia, Familial
Azotemia OMIM:109160
Intellectual Developmental Disorder, Autosomal Recessive 25
Anxiety OMIM:614346
Panic Disorder 1
Anxiety OMIM:167870
Obsessive-Compulsive Disorder
Depression, Anxiety, Skin-picking OMIM:164230
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Obesity, Overweight, Diabetes mellitus OMIM:613375
Dystonia 11, Myoclonic
Torticollis, Agoraphobia, Depression, Anxiety, Tremor, Writer's cramp OMIM:159900
Myoclonus-Dystonia Syndrome
Torticollis, Depression, Anxiety, Panic attack, Writer's cramp, Personality disorder, Dystonia ORPHA:36899
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Abnormal fear/anxiety-related behavior, Hyperactivity, Resting tremor, Tremor, ... ORPHA:3077
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity, Emotional lability OMIM:309585
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Anxiety, Self-injurious behavior, Aggressive behavior OMIM:619031
Chorea, Benign Hereditary
Gait disturbance, Anxiety OMIM:118700
Dystonia 12
Torticollis, Depression, Anxiety, Tremor, Unsteady gait, Emotional lability, Dystonia OMIM:128235
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Truncal obesity, Large for gestational age, Nonketotic hypoglycemia, Hy... ORPHA:293964
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Truncal obesity OMIM:240900
Epilepsy, Progressive Myoclonic, 12
Ataxia, Dysmetria, Depression, Anxiety, Difficulty walking, Attention deficit hyperactivity disorder OMIM:619191
Huntington Disease-Like 2
Apathy, Action tremor, Depression, Anxiety, Weight loss, Dystonia, Irritability OMIM:606438
Morm Syndrome
Hyperactivity, Aggressive behavior, Truncal obesity ORPHA:75858
Stiff Person Spectrum Disorder
Agoraphobia, Exaggerated startle response, Emotional lability, Anxiety, Falls, Difficulty walking... ORPHA:3198
Adiposis Dolorosa
Depression, Obesity, Anxiety OMIM:103200
Spinocerebellar Ataxia 12
Action tremor, Axial dystonia, Progressive cerebellar ataxia, Dysmetria, Depression, Dysdiadochok... OMIM:604326
Pandas
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... ORPHA:66624
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Anxiety, Paroxysmal dystonia, Paroxysmal choreoathetosis OMIM:602066
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity, Anxiety, Attention deficit hyperactivity disorder OMIM:618725
Early-Onset Schizophrenia
Impairment in personality functioning, Abnormal emotion/affect behavior, Depression, Anxiety, Low... ORPHA:96369
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Self-injurious behavior, Anxiety, Attention deficit hyperactivity disorder, Aggressive behavior, ... OMIM:613670
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia, Aggressive behavior ORPHA:329249
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Spinocerebellar Ataxia 48
Ataxia, Dysmetria, Depression, Cachexia, Anxiety, Tremor, Gait ataxia, Dystonia, Irritability OMIM:618093
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Aggressive behavior, Obesity OMIM:301013
Intellectual Developmental Disorder, Autosomal Recessive 46
Large for gestational age, Ataxia, Self-injurious behavior, Aggressive behavior OMIM:616116
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Happy demeanor, Ataxia, Hyperactivity, Obesity, Inappropriate laughter ORPHA:411515
11P15.4 Microduplication Syndrome
Obesity, Aggressive behavior ORPHA:300305
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:256450
Mehmo Syndrome
Inability to walk, Small for gestational age, Hypoglycemia, Difficulty walking, Gait ataxia, Aggr... OMIM:300148
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:601820
Chung-Jansen Syndrome
Impulsivity, Anxiety, Attention deficit hyperactivity disorder, Aggressive behavior, Obesity OMIM:617991
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Dystonia 26, Myoclonic
Torticollis, Blepharospasm, Laryngeal dystonia, Depression, Anxiety, Dystonia OMIM:616398
Perry Syndrome
Apathy, Akinesia, Depression, Anxiety, Inappropriate behavior, Tremor, Suicidal ideation, Disinhi... OMIM:168605
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Leptin Receptor Deficiency
Obesity, Aggressive behavior, Diabetes mellitus OMIM:614963
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Gm2 Gangliosidosis, Ab Variant
Abnormal fear/anxiety-related behavior, Exaggerated startle response, Anxiety, Inappropriate beha... ORPHA:309246
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... ORPHA:276608
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased circulating renin level, Decreased serum creatinine, Hyponatremia OMIM:300539
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
11Q22.2Q22.3 Microdeletion Syndrome
Obesity, Anxiety, Attention deficit hyperactivity disorder ORPHA:444002
Insulinoma
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Anxiety, Reactive hypogl... ORPHA:97279
Stiff-Person Syndrome
Agoraphobia, Exaggerated startle response, Opisthotonus, Depression, Anxiety, Diabetes mellitus OMIM:184850
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity, Aggressive behavior, Self-mutilation OMIM:616521
Adult-Onset Cervical Dystonia, Dyt23 Type
Torticollis, Axial dystonia, Panic attack, Head tremor, Craniofacial dystonia, Writer's cramp, Di... ORPHA:420492
Obesity Due To Sim1 Deficiency
Obesity, Glucose intolerance, Hyperinsulinemia, Attention deficit hyperactivity disorder ORPHA:369873
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Small for gestational age, Ketotic hypoglycemia,... ORPHA:324575
Clark-Baraitser Syndrome
Obesity, Anxiety, Hyperactivity, Aggressive behavior OMIM:617752
Obesity Due To Melanocortin 4 Receptor Deficiency
Obesity, Childhood-onset truncal obesity, Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity OMIM:614662
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Self-mutilation, Depression, Anxiety, Gait disturbance, Tremor, Overweight ORPHA:457240
Morgagni-Stewart-Morel Syndrome
Action tremor, Depression, Suicidal ideation, Diabetes mellitus, Obesity ORPHA:77296
Pigmented Nodular Adrenocortical Disease, Primary, 4
Depression, Increased body weight, Diabetes mellitus, Emotional lability OMIM:615830
Intellectual Developmental Disorder With Autism And Macrocephaly
Anxiety, Overweight, Tall stature OMIM:615032
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration OMIM:607665
Parkinson Disease 7, Autosomal Recessive Early-Onset
Leg dystonia, Blepharospasm, Resting tremor, Anxiety, Postural tremor OMIM:606324
Renal Tubular Acidosis, Distal, 1
Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia OMIM:179800
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Type II diabetes mellitus, Small for gestational age, Attention deficit hyperactivity disorder, D... OMIM:274300
Hyperostosis Frontalis Interna
Obesity, Diabetes mellitus OMIM:144800
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Ataxia, Resting tremor, Tremor, Shuffling gait, Choreoathetosis, Emotional lability, Obesity, Spa... OMIM:300055
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Fanconi Renotubular Syndrome 3
Elevated circulating creatinine concentration, Aminoaciduria OMIM:615605
Idiopathic Intracranial Hypertension
Abnormal emotion/affect behavior, Obesity, Depression ORPHA:238624
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Hypocystinemia OMIM:617744
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Lar... ORPHA:276580
48,Xxyy Syndrome
Ataxia, Type II diabetes mellitus, Tall stature, Depression, Anxiety, Tremor, Attention deficit h... ORPHA:10
Preeclampsia
Elevated circulating creatinine concentration ORPHA:275555
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia, Tall stature OMIM:618406
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration OMIM:616733
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Failure to thrive, Anxiety, Attention deficit hyperactivity disorder, Diabetes mellitus, Overweight ORPHA:391372
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Wilson Disease
Failure to thrive, Depression, Difficulty walking, Hypersexuality, Aggressive behavior, Increased... ORPHA:905
Marbach-Schaaf Neurodevelopmental Syndrome
Torticollis, Happy demeanor, Hemidystonia, Tremor, Attention deficit hyperactivity disorder, Aggr... OMIM:619680
Acth-Independent Macronodular Adrenal Hyperplasia 2
Depression, Increased body weight, Abdominal obesity, Hyperglycemia OMIM:615954
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Chromosome 2Q37 Deletion Syndrome
Obesity, Hyperactivity, Self-injurious behavior, Aggressive behavior OMIM:600430
Cerebral Creatine Deficiency Syndrome 2
Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine OMIM:612736
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Blepharospasm, Exaggerated startle response, Oculogyric crisis, Athetosis, Choreoath... OMIM:608643
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Ataxia, Hyperactivity, Tall stature, Anxiety, Aggressive behavior, Obesity OMIM:618430
Mody
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Glycosuria, Neonatal hypogly... ORPHA:552
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Happy demeanor, Ataxia, Broad-based gait, Hyperactivity, Tremor, Obesity, Inappro... ORPHA:98794
Tay-Sachs Disease
Apathy, Exaggerated startle response OMIM:272800
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612926
Smith-Magenis Syndrome
Increased body weight, Head-banging, Hyperactivity, Self-mutilation OMIM:182290
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Hyperinsulinemia, Childhood-onset truncal obesity, Hypoglycemic seizures, Obesity ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Hyperinsulinemia, Childhood-onset truncal obesity, Hypoglycemic seizures, Obesity ORPHA:71526
Angelman Syndrome Due To A Point Mutation
Gait imbalance, Happy demeanor, Ataxia, Broad-based gait, Obesity, Inappropriate laughter ORPHA:411511
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612922
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Large for gestational ... ORPHA:276575
Obesity Due To Leptin Receptor Gene Deficiency
Obesity, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Emotional lability ORPHA:179494
Macrosomia Adiposa Congenita
Large for gestational age, Obesity OMIM:248100
Adrenocortical Carcinoma
Anxiety, Panic attack, Diabetes mellitus, Increased body weight, Weight loss, Irritability ORPHA:1501
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine ORPHA:54057
X-Linked Intellectual Disability, Hedera Type
Action tremor, Inability to walk, Dysmetria, Gait disturbance, Unsteady gait, Obesity ORPHA:93952
Ataxia-Oculomotor Apraxia Type 4
Obesity, Ataxia, Dystonia ORPHA:459033
Cntnap2-Related Developmental And Epileptic Encephalopathy
Ataxia, Hyperactivity, Self-mutilation, Low frustration tolerance, Aggressive behavior, Obesity, ... ORPHA:163681
13Q12.3 Microdeletion Syndrome
Failure to thrive, Hyperactivity, Obesity, Self-mutilation ORPHA:412035
Central Precocious Puberty
Increased body weight, Obesity, Overgrowth ORPHA:759
Pituitary Adenoma 4, Acth-Secreting
Abdominal obesity, Glucose intolerance, Abnormal fear/anxiety-related behavior, Impaired glucose ... OMIM:219090
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612925
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
48,Xxxy Syndrome
Type II diabetes mellitus, Tall stature, Anxiety, Tremor, Attention deficit hyperactivity disorde... ORPHA:96263
Hyperinsulinism Due To Hnf4A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Glycosuria, Neonatal h... ORPHA:263455
Hypothyroidism, Congenital, Nongoitrous, 6
Broad-based gait, Increased body weight, Increased body mass index OMIM:614450
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Obesity, Anxiety, Aggressive behavior OMIM:619056
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight, Self-injurious behavior, Aggressive behavior OMIM:300860
Gm2-Gangliosidosis, Ab Variant
Dystonia, Apathy, Exaggerated startle response OMIM:272750
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Broad-based gait, Ataxia, Exaggerated startle response, Anxiety, Dystonia ORPHA:438216
Bachmann-Bupp Syndrome
Large for gestational age, Hypoglycemia, Attention deficit hyperactivity disorder, Aggressive beh... OMIM:619075
Congenital Disorder Of Glycosylation, Type Ih
Elevated circulating creatinine concentration, Hypoalbuminemia OMIM:608104
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Luscan-Lumish Syndrome
Obesity, Anxiety, Aggressive behavior, Overgrowth OMIM:616831
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome
Anxiety, Aggressive behavior, Emotional lability, Obesity, Low frustration tolerance OMIM:612469
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated alpha-fetoprotein, Elevated circulating creatinine concentration, Hypokalemia OMIM:613095
Relapsing Fever
Increased total bilirubin, Elevated circulating creatinine concentration, Elevated circulating C-... ORPHA:91547
Sickle Cell Anemia
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia ORPHA:232
Adiposis Dolorosa
Depression, Obesity, Anxiety ORPHA:36397
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration OMIM:614376
Primary Pigmented Nodular Adrenocortical Disease
Abdominal obesity, Glucose intolerance, Type II diabetes mellitus, Depression, Emotional lability... ORPHA:189439
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating long chain fatty acid concentration, Hyperammonemia, Elevated circulating cr... OMIM:608836
Angelman Syndrome
Broad-based gait, Happy demeanor, Ataxia, Inability to walk, Self-injurious behavior, Hyperactivi... ORPHA:72
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Glucose intolerance, Hyperinsulinemia, Decreased body weight, Type II... ORPHA:2298
Blue Diaper Syndrome
Increased body weight, Increased proinsulin:insulin ratio, Recurrent hypoglycemia ORPHA:94086
Sotos Syndrome
Glucose intolerance, Tall stature, Overgrowth, Attention deficit hyperactivity disorder, Aggressi... OMIM:117550
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Obesity, Hyperinsulinemia OMIM:617885
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:235400
Angelman Syndrome
Broad-based gait, Hyperactivity, Progressive gait ataxia, Limb tremor, Obesity, Paroxysmal bursts... OMIM:105830
Tatton-Brown-Rahman Syndrome
Proportionate tall stature, Anxiety, Aggressive behavior, Obesity, Bipolar affective disorder ORPHA:404443
X-Linked Intellectual Disability, Cabezas Type
Broad-based gait, Hyperactivity, Cachexia, Tremor, Aggressive behavior, Obesity ORPHA:85293
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Abdominal obesity, Glucose intolerance, Depression, Emotional lability, Increased body weight ORPHA:189427
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Histidinemia
Hyperhistidinemia, Histidinuria OMIM:235800
Tay-Sachs Disease
Inability to walk, Laryngeal dystonia, Exaggerated startle response, Dysmetria, Depression, Anxie... ORPHA:845
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration ORPHA:79126
16P13.2 Microdeletion Syndrome
Failure to thrive, Impulsivity, Gait disturbance, Attention deficit hyperactivity disorder, Aggre... ORPHA:500055
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration ORPHA:90060
Thrombotic Thrombocytopenic Purpura, Hereditary
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:274150
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:154230
Congenital Disorder Of Glycosylation, Type Iit
Hypotriglyceridemia, Decreased HDL cholesterol concentration, Decreased serum creatinine OMIM:618885
Narcolepsy 7
Obesity, Type II diabetes mellitus OMIM:614250
Autosomal Recessive Spastic Paraplegia Type 11
Ataxia, Inability to walk, Gait disturbance, Emotional lability, Obesity, Overweight ORPHA:2822
Developmental And Epileptic Encephalopathy 68
Failure to thrive, Exaggerated startle response OMIM:618201
Aapoaiv Amyloidosis
Hyperlipidemia, Elevated circulating creatinine concentration ORPHA:439232
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypokalemia, Hypocalcemia, Aminoaciduria, Hypocalcemic tetany, Elevated circula... ORPHA:411634
1P21.3 Microdeletion Syndrome
Obesity, Self-injurious behavior, Aggressive behavior, Self-mutilation ORPHA:293948
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein AI concentration, Decreased HDL cholesterol concentration, E... ORPHA:85450
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Increased blood urea nitrogen ORPHA:230
Bacterial Toxic-Shock Syndrome
Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulating creatine kin... ORPHA:36234
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:223900
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hyperuricemia OMIM:174000
Senior-Loken Syndrome 1
Elevated circulating creatinine concentration OMIM:266900
Bardet-Biedl Syndrome 6
Obesity, Diabetes mellitus OMIM:605231
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Elevated circulating creatinine concentration ORPHA:247691
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Magel2-Related Prader-Willi-Like Syndrome
Abdominal obesity, Failure to thrive, Type II diabetes mellitus, Impulsivity, Increased body weig... ORPHA:398069
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Exaggerated startle response OMIM:609541
Spastic Tetraplegia And Axial Hypotonia, Progressive
Ataxia, Exaggerated startle response OMIM:618598
Cushing Disease
Abdominal obesity, Depression, Panic attack, Truncal obesity, Impaired glucose tolerance, Suicida... ORPHA:96253
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:49041
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Difficulty walking, Exaggerated startle response ORPHA:320406
Proprotein Convertase 1/3 Deficiency
Reactive hypoglycemia, Obesity OMIM:600955
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia, Hyponatremia, Hyp... ORPHA:90038
Papillorenal Syndrome
Elevated circulating creatinine concentration OMIM:120330
Oligomeganephronia
Elevated circulating creatinine concentration ORPHA:2260
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Large for gestational age, Hypoglycemia, Glycosuria, Diabetes mellitus OMIM:616026
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Multiple Myeloma
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia ORPHA:29073
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration ORPHA:730
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration OMIM:617478
Cardiogenic Shock
Elevated circulating creatinine concentration ORPHA:97292
Abdominal Obesity-Metabolic Syndrome 4
Obesity, Type II diabetes mellitus OMIM:618620
Gaisböck Syndrome
Obesity, Anxiety, Overweight, Diabetes mellitus ORPHA:90041
Asparagine Synthetase Deficiency
Failure to thrive, Exaggerated startle response OMIM:615574
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Hemorrhagic Fever-Renal Syndrome
Elevated circulating creatinine concentration, Hyperphosphatemia, Hyperkalemia ORPHA:340
Marburg Hemorrhagic Fever
Hypokalemia, Hyperammonemia, Elevated circulating creatine kinase concentration, Elevated circula... ORPHA:99826
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Ketotic hypoglycemia, Increased body weight, Fasting hypoglycemia, Recurrent hypoglycemia ORPHA:79240
Renal Cysts And Diabetes Syndrome
Elevated circulating creatinine concentration, Hyperuricemia OMIM:137920
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Fasting hypoglycemia, Increased body weight, Hypoglycemia, Failure to thrive ORPHA:264580
Sandhoff Disease
Ataxia, Exaggerated startle response OMIM:268800
Pauci-Immune Glomerulonephritis
Elevated circulating creatinine concentration ORPHA:93126
Cushing Syndrome Due To Ectopic Acth Secretion
Abdominal obesity, Depression, Anxiety, Panic attack, Truncal obesity, Impaired glucose tolerance... ORPHA:99889
Igg4-Related Kidney Disease
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:449395
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Failure to thrive, Exaggerated startle response ORPHA:521426
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Failure to thrive, Exaggerated startle response OMIM:617527
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Yellow Fever
Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration... ORPHA:99829
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Hyperbilirubinemia, Conjugated hyperbilirubinemia, ... OMIM:619534
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response OMIM:253800
Tubulointerstitial Nephritis And Uveitis Syndrome
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:91500
Gm1 Gangliosidosis Type 1
Exaggerated startle response ORPHA:79255
Hellp Syndrome
Increased body weight ORPHA:244242
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Broad-based gait, Exaggerated startle response, Inability to walk, Dystonia ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Attention deficit hyperactivity disorder, Exaggerated startle response OMIM:619522
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.