Gene Summary

Name:
shisa family member 4
Synonyms:
9330132O05Rik,  Tmem58

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
decreased thigmotaxis Shisa4tm1b(KOMP)Wtsi HOM Early adult 1.39×10-06
abnormal behavior Shisa4tm1b(KOMP)Wtsi HOM Early adult 2.05×10-06
increased circulating calcium level Shisa4tm1b(KOMP)Wtsi HOM   Early adult 1.92×10-05
hyperactivity Shisa4tm1b(KOMP)Wtsi HOM Early adult 6.29×10-06
increased circulating total protein level Shisa4tm1b(KOMP)Wtsi HOM   Early adult 8.59×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Aorta  Section images heterozygote 50% (1 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Ileum  Section images heterozygote 100% (2 of 2)
Jejunum  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Tongue  Section images heterozygote 50% (1 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Vesicular gland  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote Not available
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Large intestine N/A heterozygote Not available
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote Not available
Oviduct N/A heterozygote Not available
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote Not available
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood 0.0%
bone marrow 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cecum 2.97% (11 of 370)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
chest bone Unavailable
colon 8.73% (11 of 126)
diaphragm 0.0%
duodenum 0.79% (1 of 126)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 584)
hindlimb 0.0%
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
ileum 10.32% (13 of 126)
jejunum 3.97% (5 of 126)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
stomach pyloric region 0.0%
striatum 0.51% (3 of 584)
sublingual gland 0.0%
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
tongue 3.97% (5 of 126)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.67% (14 of 381)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Adult LacZ

LacZ Images Section

40 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Shisa4 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 Shisa4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Impulsivity, Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Intellectual Developmental Disorder, X-Linked 109
Impulsivity, Aggressive behavior, Hyperactivity OMIM:309548
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Autism, Susceptibility To, X-Linked 4
Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:300830
Familial Alzheimer-Like Prion Disease
Emotional lability, Anxiety, Attention deficit hyperactivity disorder, Depression ORPHA:280397
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Mental Retardation, Autosomal Dominant 52
Anxiety, Hyperactivity OMIM:617796
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Adamantinoma
Hypercalcemia ORPHA:55881
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Mental Retardation, Autosomal Recessive 37
Aggressive behavior, Hyperactivity OMIM:615493
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Irritability, Hyperactivity OMIM:616657
Immunodeficiency 8
Hyperactivity OMIM:615401
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Aggressive behavior, Hyperactivity ORPHA:356996
Trypsinogen Deficiency
Hypoproteinemia OMIM:614044
Glycine Encephalopathy
Lethargy, Aggressive behavior, Hyperglycinemia, Impulsivity, Irritability, Hyperactivity OMIM:605899
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia, Falls OMIM:615883
Myoclonus-Dystonia Syndrome
Personality disorder, Dystonia, Depression, Writer's cramp, Panic attack, Torticollis, Anxiety ORPHA:36899
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:94090
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Hypervitaminosis A, Susceptibility To
Hypercalcemia OMIM:240150
Epilepsy, Progressive Myoclonic, 12
Depression, Difficulty walking, Ataxia, Anxiety, Dysmetria, Attention deficit hyperactivity disorder OMIM:619191
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Smith-Magenis syndrome
Self-mutilation, Hyperactivity DECIPHER:8
Multiple Myeloma
Elevated circulating creatinine concentration, Hypercalcemia, Hyperproteinemia ORPHA:29073
Hyperprolinemia, Type I
Hyperactivity, Aggressive behavior, Ataxia, Hyperprolinemia OMIM:239500
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Phenylketonuria
Self-mutilation, Maternal hyperphenylalaninemia, Aggressive behavior, Depression, Hyperphenylalan... OMIM:261600
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Rhabdoid Tumor
Irritability, Hypercalcemia ORPHA:69077
Pandas
Claustrophobia, Depression, Agoraphobia, Separation insecurity, Emotional lability, Impulsivity, ... ORPHA:66624
Hypophosphatasia
Irritability, Hypercalcemia ORPHA:436
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Uremic Pruritus
Hypermagnesemia, Increased blood urea nitrogen, Depression, Renal hypophosphatemia, Hypercalcemia ORPHA:94059
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Lethargy, Aggressive behavior, Acute hyperammonemia, Hyper... ORPHA:247585
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia, Infantile hypercalcemia ORPHA:99879
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Autoimmune Hypoparathyroidism
Hypocalcemia, Depression, Hypocalcemic tetany, Laryngeal dystonia, Irritability, Anxiety, Hyperph... ORPHA:36913
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Hypercalcemia, Infantile, 1
Infantile hypercalcemia, Lethargy OMIM:143880
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Impulsivity, Aggressive behavior, Hyperactivity OMIM:604317
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Hypoalbuminemia OMIM:600351
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Increas... OMIM:267700
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Juvenile Huntington Disease
Dystonia, Gait ataxia, Depression, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Irritabil... ORPHA:248111
Non-Functioning Paraganglioma
Panic attack, Hypercalcemia ORPHA:94080
Mental Retardation, Autosomal Dominant 43
Impulsivity, Anxiety, Hyperactivity OMIM:616977
Fraxe Intellectual Disability
Impulsivity, Aggressive behavior, Hyperactivity ORPHA:100973
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Transient hyperphenylalaninemia, Dystonia, Aggressive behavior, Ataxia, Hyperactivity OMIM:612716
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Dystonia, Ataxia, Hyperactivity OMIM:615924
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypomagnesemia, Hypokalemia, Self-biting, Hyperactivity OMIM:618314
Refractory Celiac Disease
Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia, Hypomagnesemia ORPHA:398063
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypermagnesemia, Hypercalcemia, Depression OMIM:600740
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Bipolar affective disorder, Aggressive behavior, Broad-based gait, Irritability, Abnormal fear/an... ORPHA:3077
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Depression, Hypocalcemic tetany, Laryngeal dystonia, Irritability, Anxiety, Hyperph... ORPHA:94089
Oculocerebrodental Syndrome
Hypocalcemia, Hypercalcemia ORPHA:557003
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia, Irritability OMIM:241500
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia OMIM:146200
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia OMIM:612089
Succinic Semialdehyde Dehydrogenase Deficiency
Aggressive behavior, Elevated circulating gamma-aminobutyric acid concentration, Self-injurious b... OMIM:271980
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia OMIM:617994
Sotos Syndrome 3
Hyperactivity OMIM:617169
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hypoalbuminemia, Hyperlipidemia OMIM:256300
Mannosidosis, Beta A, Lysosomal
Aggressive behavior, Hyperactivity OMIM:248510
Hypocalcemia, Autosomal Dominant 1
Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Secondary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia ORPHA:90363
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait disturbance, Dysmetria, Hyperactivity OMIM:618090
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Self-mutilation, Gait ataxia, Aggressive behavior, Hypercalcemia, Attention deficit hyperactivity... ORPHA:476126
Chromosome 3Q29 Deletion Syndrome
Anxiety, Gait ataxia, Aggressive behavior, Hyperactivity OMIM:609425
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia, Aggressive behavior OMIM:608093
Dengue Fever
Hypoproteinemia, Lethargy ORPHA:99828
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Intellectual Developmental Disorder, X-Linked 104
Aggressive behavior, Ataxia, Hyperactivity OMIM:300983
Intellectual Developmental Disorder, X-Linked 30
Anxiety, Aggressive behavior, Hyperactivity OMIM:300558
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hyponat... OMIM:603553
Lennox-Gastaut Syndrome
Personality disorder, Falls, Aggressive behavior, Hyperactivity ORPHA:2382
Coffin-Siris Syndrome 8
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:618362
Xq25 Microduplication Syndrome
Anxiety, Hyperactivity ORPHA:521258
Xq25 Duplication Syndrome
Anxiety, Hyperactivity OMIM:300979
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Landau-Kleffner Syndrome
Gait ataxia, Aggressive behavior, Depression, Emotional lability, Impulsivity, Anxiety, Hyperacti... ORPHA:98818
Sporadic Pheochromocytoma/Secreting Paraganglioma
Episodic paroxysmal anxiety, Panic attack, Hypercalcemia ORPHA:276621
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Waddling gait, Hypercalcemia OMIM:156400
Mental Retardation, Autosomal Recessive 39
Aggressive behavior, Hyperactivity OMIM:615541
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Lethargy, Increased circulating free fatty acid level, Elevated ci... ORPHA:26793
Congenital Analbuminemia
Hypercholesterolemia, Hypoproteinemia, Hypoalbuminemia, Increased alpha-globulin, Hyperlipidemia ORPHA:86816
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Hypertriglyceridemia OMIM:612526
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia ORPHA:172
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity OMIM:301013
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Infantile hypercalcemia, Hypocalcemic sei... ORPHA:405
Hyperlysinemia, Type I
Hyperlysinemia, Hyperactivity OMIM:238700
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Calcinosis, Hypercalcemia OMIM:239200
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Oculoskeletodental Syndrome
Hypocalcemia, Hypercalcemia OMIM:618440
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
2P21 Microdeletion Syndrome
Hypocalcemia ORPHA:163693
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Autosomal Dominant Hypocalcemia
Hypocalcemia, Depression, Emotional lability, Writer's cramp, Anxiety, Hypomagnesemia, Hyperphosp... ORPHA:428
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Inappropriate laughter, Ataxia, Happy demeanor, Hyperactivity, Broad-based gait ORPHA:411515
Leptospirosis
Hyperproteinemia ORPHA:509
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypercalcemia, Hyperuricemia, Lethargy ORPHA:199299
Primary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia, Hypoalbuminemia ORPHA:90362
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Aggressive behavior, Self-injurious behavior, Ataxia, Hyperactivity, Athetosis ORPHA:382
Omenn Syndrome
Hypoproteinemia OMIM:603554
Early-Onset Schizophrenia
Low self esteem, Depression, Abnormal emotion/affect behavior, Impairment in personality function... ORPHA:96369
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Hereditary Pheochromocytoma-Paraganglioma
Episodic paroxysmal anxiety, Panic attack, Hypercalcemia ORPHA:29072
Autosomal Recessive Non-Syndromic Intellectual Disability
Hyperactivity, Dystonia, Impulsivity, Depression ORPHA:88616
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:93324
Thymic Neuroendocrine Tumor
Hypercalcemia ORPHA:97289
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia OMIM:235255
Female Restricted Epilepsy With Intellectual Disability
Anxiety, Impulsivity, Aggressive behavior, Hyperactivity ORPHA:101039
Mental Retardation, Autosomal Recessive 38
Self-mutilation, Unsteady gait, Aggressive behavior, Hyperactivity OMIM:615516
Clcn4-Related X-Linked Intellectual Disability Syndrome
Bipolar affective disorder, Aggressive behavior, Depression, Self-injurious behavior, Progressive... ORPHA:485350
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Aggressive behavior, Hyperactivity OMIM:618342
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypoalbuminemia OMIM:226300
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Paroxysmal bursts of laughter, Self-injurious behavior, Hyperactivity OMIM:618718
Gand Syndrome
Inappropriate laughter, Hyperactivity OMIM:615074
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hyperactivity OMIM:274270
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Truncal ataxia, Aggressive behavior, Ataxia, Unsteady gait... ORPHA:228360
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Aggressive behavior, Impulsivity, Hyperactivity ORPHA:500180
Fibrous Dysplasia Of Bone
Hypophosphatemia, Hypercalcemia, Antalgic gait, Difficulty walking ORPHA:249
Acute Adrenal Insufficiency
Hyponatremia, Hyperuricemia, Increased circulating renin level, Hypercalcemia, Hyperkalemia ORPHA:95409
Ck Syndrome
Irritability, Aggressive behavior, Hyperactivity ORPHA:251383
Mental Retardation, Autosomal Recessive 61
Aggressive behavior, Hyperactivity OMIM:617773
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Clark-Baraitser Syndrome
Aggressive behavior, Hyperactivity OMIM:617752
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia ORPHA:89937
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia ORPHA:1655
Cholera
Hypocalcemia, Lethargy, Hyponatremia, Abnormal blood ion concentration, Hypokalemia, Irritability ORPHA:173
Ck Syndrome
Irritability, Aggressive behavior, Hyperactivity OMIM:300831
Mastocytosis
Hypercalcemia ORPHA:98292
Familial Parathyroid Adenoma
Hypophosphatemia, Hypercalcemia ORPHA:99877
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Hyperactivity, Unsteady gait, Broad-based gait, Happy demeanor OMIM:617865
Renal Tubular Acidosis, Distal, 1
Hypocalcemia OMIM:179800
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Aggressive behavior, Broad-based gait, Hyperactivity ORPHA:457260
X-Linked Creatine Transporter Deficiency
Self-mutilation, Dystonia, Abnormal circulating creatine concentration, Ataxia, Hyperactivity, At... ORPHA:52503
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Hyperphosphatasia With Mental Retardation Syndrome 6
Elevated circulating creatine kinase concentration, Aggressive behavior, Hyperactivity OMIM:616809
Pseudohypoparathyroidism Type 1C
Hypocalcemia, Depression, Hypocalcemic tetany, Calcinosis, Laryngeal dystonia, Irritability, Anxi... ORPHA:79444
Hepatocellular Carcinoma
Hyperbilirubinemia, Hyponatremia, Emotional lability, Hypokalemia, Hypercalcemia, Hypoalbuminemia ORPHA:88673
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Inability to walk, Hypoproteinemia, Gait disturbanc... ORPHA:167
Hypocalcemic Vitamin D-Dependent Rickets
Hypophosphatemia, Hypocalcemia, Difficulty walking, Irritability, Hypocalcemic seizures ORPHA:289157
Primary Parathyroid Hyperplasia
Hypophosphatemia, Hypercalcemia ORPHA:99878
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Bartter Syndrome, Type 1, Antenatal
Increased circulating renin level, Increased serum prostaglandin E2, Hypokalemia, Hypercalcemia, ... OMIM:601678
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia, Ataxia OMIM:618476
Pheochromocytoma
Hypercalcemia OMIM:171300
Timothy Syndrome
Hypocalcemia OMIM:601005
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia ORPHA:369837
Addison Disease
Hyponatremia, Hyperuricemia, Increased circulating renin level, Hypercalcemia, Hyperkalemia ORPHA:85138
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia, Gait disturbance ORPHA:93160
Monosomy 13Q34
Infantile hypercalcemia ORPHA:96168
Neuroleptic Malignant Syndrome
Hypocalcemia, Hypernatremia, Hyponatremia, Elevated circulating creatine kinase concentration, Hy... ORPHA:94093
Johanson-Blizzard Syndrome
Hypoproteinemia ORPHA:2315
Histidinemia
Hyperhistidinemia, Hyperactivity ORPHA:2157
Hemorrhagic Fever-Renal Syndrome
Hypoproteinemia ORPHA:340
Hypotonia-Cystinuria Syndrome
Hypocalcemia OMIM:606407
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Aggressive behavior, Hyperactivity OMIM:615824
Rasmussen Subacute Encephalitis
Inability to walk, Hemidystonia, Emotional lability, Irritability, Hyperactivity, Attention defic... ORPHA:1929
Hyperparathyroidism-Jaw Tumor Syndrome
Infantile hypercalcemia, Hypercalcemia, Hypophosphatemia ORPHA:99880
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypomagnesemia, Hypocalcemia, Hypokalemia OMIM:175500
Parathyroid Carcinoma
Infantile hypercalcemia, Hypercalcemia, Hypophosphatemia ORPHA:143
Optic Atrophy 11
Dysmetria, Ataxia, Hyperactivity OMIM:617302
Graves Disease, Susceptibility To, 1
Irritability, Hyperactivity OMIM:275000
Colchicine Poisoning
Hypophosphatemia, Hypocalcemia, Hyponatremia, Abnormal blood ion concentration, Hypokalemia, Hypo... ORPHA:31824
Multiple Endocrine Neoplasia Type 2
Hypercalcemia, Anxiety ORPHA:653
Intellectual Developmental Disorder, X-Linked 21
Impulsivity, Hyperactivity OMIM:300143
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Aggressive behavior, Hyperactivity OMIM:615286
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Hypocalcemia OMIM:244460
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia, Gait disturbance ORPHA:352540
Multiple Endocrine Neoplasia, Type I
Hypercalcemia OMIM:131100
Albers-Schönberg Osteopetrosis
Hypocalcemia ORPHA:53
Severe Neurodegenerative Syndrome With Lipodystrophy
Gait ataxia, Ataxia, Hypertriglyceridemia, Limb dystonia, Hyperactivity ORPHA:363400
Glucagonoma
Hypercalcemia, Depression ORPHA:97280
Diarrhea 10, Protein-Losing Enteropathy Type
Hypocalcemia, Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypomagnesemia OMIM:618183
Pierson Syndrome
Hypoproteinemia OMIM:609049
Celiac Disease, Susceptibility To, 1
Hypocalcemia, Anxiety, Ataxia, Depression OMIM:212750
Pseudohypoparathyroidism Type 1A
Hypocalcemia, Depression, Hypocalcemic tetany, Calcinosis, Laryngeal dystonia, Irritability, Anxi... ORPHA:79443
Smith-Magenis Syndrome
Self-mutilation, Hypercholesterolemia, Head-banging, Hypertriglyceridemia, Hyperactivity OMIM:182290
Mental Retardation, Autosomal Dominant 7
Inappropriate laughter, Gait disturbance, Ataxia, Hyperactivity, Happy demeanor OMIM:614104
X-Linked Adrenoleukodystrophy
Disinhibition, Aggressive behavior, Gait disturbance, Inappropriate sexual behavior, Hyperactivit... ORPHA:43
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Aggressive behavior, Broad-based gait, Hyperactivity OMIM:300958
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Aggressive behavior, Hyperactivity ORPHA:85327
Vipoma
Hypokalemia, Hypercalcemia ORPHA:97282
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia, Lethargy, Toe walking ORPHA:746
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Adenylosuccinase Deficiency
Self-mutilation, Inability to walk, Inappropriate laughter, Gait ataxia, Aggressive behavior, Hyp... OMIM:103050
Symptomatic Form Of Fragile X Syndrome In Female Carrier
Aggressive behavior, Depression, Self-injurious behavior, Irritability, Anxiety, Hyperactivity, A... ORPHA:449291
Ppoma
Hypercalcemia ORPHA:97278
X-Linked Agammaglobulinemia
Hypocalcemia ORPHA:47
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Aggressive behavior, Hyperactivity ORPHA:369939
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Ataxia, Emotional lability, Unsteady gait, Impulsivity, Hyperactivity ORPHA:35069
2Q23.1 Microdeletion Syndrome
Paroxysmal bursts of laughter, Self-injurious behavior, Ataxia, Hyperactivity ORPHA:228402
Myoclonic-Astatic Epilepsy
Abnormal emotion/affect behavior, Ataxia, Unsteady gait, Hyperactivity, Attention deficit hyperac... ORPHA:1942
Somatostatinoma
Hypercalcemia ORPHA:97283
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hyperbilirubinemia OMIM:259720
Multiple Endocrine Neoplasia Type 1
Lethargy, Hypercalcemia, Depression ORPHA:652
Gomez-Lopez-Hernandez Syndrome
Bipolar affective disorder, Depression, Self-injurious behavior, Ataxia, Hyperactivity OMIM:601853
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hyperactivity, Gait ataxia, Aggressive behavior, Mood swings OMIM:300354
Zollinger-Ellison Syndrome
Hypercalcemia ORPHA:913
Grfoma
Hypercalcemia ORPHA:97261
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Bradykinesia, Emotional lability, Impulsivity, Dysmetr... OMIM:610217
Williams Syndrome
Depression, Gait disturbance, Abnormal circulating lipid concentration, Ataxia, Hypercalcemia, An... ORPHA:904
Late Infantile Neuronal Ceroid Lipofuscinosis
Inability to walk, Aggressive behavior, Gait disturbance, Ataxia, Low frustration tolerance, Anxi... ORPHA:168491
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia OMIM:607143
Mental Retardation, Autosomal Recessive 13
Hyperactivity OMIM:613192
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Irritability, Aggressive behavior, Hyperactivity ORPHA:391307
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:600430
Multiple Endocrine Neoplasia Type 4
Hypercalcemia ORPHA:276152
Hypophosphatemic Rickets
Hypophosphatemia, Hypercalcemia ORPHA:437
Ethylene Glycol Poisoning
Hypocalcemia, Euphoria, Hyperkalemia, Ataxia ORPHA:31826
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Hyperactivity OMIM:618504
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia ORPHA:2323
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia OMIM:259700
Argininemia
Hyperargininemia, Spastic gait, Irritability, Hyperactivity, Hyperammonemia OMIM:207800
Visceral Steatosis, Congenital
Hypocalcemia, Lethargy OMIM:228100
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypocalcemia, Hypouricemia, Elevated circulating creatinine concentration, Hypo... ORPHA:411634
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Aggressive behavior, Self-biting ORPHA:3306
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Hypocalcemia, Elevated circulating creatinine... ORPHA:36234
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Anxiety, Aggressive behavior, Ataxia, Hyperactivity OMIM:618430
Cri-Du-Chat Syndrome
Self-mutilation, Aggressive behavior, Difficulty walking, Anxiety, Hyperactivity, Conspicuously h... OMIM:123450
Pitt-Hopkins-Like Syndrome 1
Aggressive behavior, Ataxia, Hyperactivity OMIM:610042
Chromosome 15Q25 Deletion Syndrome
Attention deficit hyperactivity disorder, Hyperactivity OMIM:614294
Double Outlet Right Ventricle
Hypocalcemia ORPHA:3426
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Neonatal hyperbilirubinemia, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:73272
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypocalcemia, Decreased prealbumin level, Abnormal blood ion concentration, Hypoalbuminemia, Hypo... ORPHA:37042
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Inappropriate laughter, Ataxia, Happy demeanor, Hyperactivity, Gait imbalance, Broad-based gait ORPHA:98794
16P12.1P12.3 Triplication Syndrome
Skin-picking, Nail-biting, Anxiety, Hyperactivity, Attention deficit hyperactivity disorder ORPHA:485405
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia, Hyperactivity OMIM:609727
Williams-Beuren Syndrome
Gait imbalance, Hypercalcemia, Anxiety, Attention deficit hyperactivity disorder OMIM:194050
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia OMIM:127000
Velocardiofacial Syndrome
Hypocalcemia, Aggressive behavior, Mood swings OMIM:192430
Gracile Bone Dysplasia
Hypocalcemia OMIM:602361
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Lethargy, Ataxia, Elevated circulating creatine kinase concentration, Hyperkalemia,... ORPHA:466650
Tubular Renal Disease-Cardiomyopathy Syndrome
Hypomagnesemia, Hypocalcemia, Hypocalcemic tetany ORPHA:73224
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia OMIM:612462
Mucopolysaccharidosis, Type Iiib
Aggressive behavior, Hyperactivity OMIM:252920
Glass Syndrome
Hyperactivity, Aggressive behavior, Broad-based gait, Happy demeanor OMIM:612313
Sotos Syndrome
Hypercalcemia, Anxiety, Attention deficit hyperactivity disorder, Aggressive behavior ORPHA:821
13Q12.3 Microdeletion Syndrome
Self-mutilation, Hyperactivity ORPHA:412035
Choreoacanthocytosis
Hair-pulling, Emotional lability, Head-banging, Progressive inability to walk, Falls, Hyperactivi... ORPHA:2388
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperactivity, Low frustration tolerance, Aggressive behavior, Emotional lability OMIM:309520
Angelman Syndrome
Inability to walk, Inappropriate laughter, Aggressive behavior, Self-injurious behavior, Ataxia, ... ORPHA:72
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Self-mutilation, Low frustration tolerance, Inappropriate laughter, Hyperactivity ORPHA:363686
X-Linked Cerebral Adrenoleukodystrophy
Inability to walk, Difficulty walking, Gait disturbance, Ataxia, Abnormal circulating fatty-acid ... ORPHA:139396
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
47,Xyy Syndrome
Impulsivity, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:8
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Ataxia, Hyperactivity ORPHA:760
Angelman Syndrome
Progressive gait ataxia, Paroxysmal bursts of laughter, Broad-based gait, Hyperactivity OMIM:105830
Insensitivity To Pain, Congenital, With Anhidrosis
Self-mutilation, Hyperactivity, Emotional lability OMIM:256800
Acrodysostosis With Multiple Hormone Resistance
Hypocalcemia, Hyperphosphatemia, Hyperactivity ORPHA:280651
Pearson Syndrome
Hypophosphatemia, Hypocalcemia, Ataxia, Hypokalemia, Hyperalaninemia, Hypomagnesemia ORPHA:699
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypocalcemia, Hypoalbuminemia OMIM:613658
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity OMIM:619239
22Q11.2 Deletion Syndrome
Hypocalcemia, Bipolar affective disorder, Depression, Anxiety, Attention deficit hyperactivity di... ORPHA:567
Sarcoidosis
Hypercalcemia ORPHA:797
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Hypocalcemic seizures ORPHA:2237
Cartilage-Hair Hypoplasia
Hypocalcemia ORPHA:175
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Hyperbilirubinemia ORPHA:163979
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
Gitelman Syndrome
Hypomagnesemia, Hypocalcemia, Hypermagnesemia, Hypokalemia ORPHA:358
Digeorge Syndrome
Hypocalcemia, Bipolar affective disorder, Attention deficit hyperactivity disorder OMIM:188400
Hyperlysinemia
Hypoornithinemia, Hyperlysinemia, Dysmetria, Hyperactivity, Hyperammonemia, Tip-toe gait ORPHA:2203
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Akinesia, Depression, Gait disturbance, Blepharospasm, Ataxia, Bradykinesia, Hyperactivity OMIM:234200
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Hypocalcemia, Hyponatremia ORPHA:544482
Juvenile Polyposis Syndrome
Hypoproteinemia ORPHA:2929
Cerebellar Ataxia, Nonprogressive, With Mental Retardation
Aggressive behavior, Ataxia, Unsteady gait, Dysmetria, Hyperactivity OMIM:614756
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Cranioectodermal Dysplasia 1
Hypocalcemia OMIM:218330
Hennekam Syndrome
Hypocalcemia ORPHA:2136
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Hypocalcemia ORPHA:667
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures ORPHA:93325
Tuberous Sclerosis Complex
Aggressive behavior, Depression, Self-injurious behavior, Impulsivity, Anxiety, Hyperactivity, At... ORPHA:805
Mend Syndrome
Elevated 8(9)-cholestenol, Elevated 8-dehydrocholesterol, Aggressive behavior, Hyperactivity ORPHA:401973
Familial Gestational Hyperthyroidism
Hyperactivity ORPHA:99819
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity ORPHA:424
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Irritability, Hyperactivity ORPHA:447997
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Aggressive behavior, Self-injurious behavior, Agoraphobia, Emotional lability, Panic attack, Impu... ORPHA:353281
Charge Syndrome
Hypocalcemia OMIM:214800
Hereditary Sensory And Autonomic Neuropathy Type 4
Self-mutilation, Abnormal emotion/affect behavior, Difficulty walking, Nail-biting, Impulsivity, ... ORPHA:642
Johanson-Blizzard Syndrome
Hypocalcemia, Increased VLDL cholesterol concentration OMIM:243800

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 Shisa4

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 Shisa4.

No publications found that use IMPC mice or data for Shisa4.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
Shisa4tm45184(L1L2_st2) Targeting vectors
Shisa4tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Shisa4tm1b(KOMP)Wtsi Reporter-tagged deletion allele (post-Cre) Mice, Tissue

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter