Gene Summary

Name:
special AT-rich sequence binding protein 1
Synonyms:
2610306G12Rik

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 bone mineral content Satb1tm1b(EUCOMM)Hmgu HET   Early adult 3.08×10-06
abnormal vitreous body morphology Satb1tm1b(EUCOMM)Hmgu HET Early adult 3.81×10-06
preweaning lethality, complete penetrance Satb1tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
increased circulating aspartate transaminase level Satb1tm1b(EUCOMM)Hmgu HET   Early adult 3.28×10-05
increased exploration in new environment Satb1tm1b(EUCOMM)Hmgu HET Early adult 2.34×10-06
preweaning lethality, incomplete penetrance Satb1tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
hyperactivity Satb1tm1b(EUCOMM)Hmgu HET Early adult 2.70×10-05
abnormal auditory brainstem response Satb1tm1b(EUCOMM)Hmgu HET   Early adult 1.60×10-05
increased bone mineral density Satb1tm1b(EUCOMM)Hmgu HET Early adult 6.67×10-05

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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
Adrenal gland  Section images heterozygote 100% (2 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Cerebral cortex  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Hippocampus  Section images heterozygote 100% (2 of 2)
Hypothalamus  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Lymph node  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Peripheral nervous system  Section images heterozygote 50% (1 of 2)
Pituitary gland  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Striatum  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 100% (2 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vascular system  Section images heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
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)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)
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 0.69% (4 of 577)
aorta 0.17% (1 of 582)
brain 0.86% (5 of 583)
brainstem 0.35% (2 of 578)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 581)
cerebellum 0.52% (3 of 582)
cerebral cortex 0.34% (2 of 581)
epididymis 13.89% (20 of 144)
esophagus 1.73% (7 of 404)
eye 0.0%
heart 0.34% (2 of 581)
hippocampus 0.34% (2 of 585)
hypothalamus 0.34% (2 of 583)
kidney 4.45% (26 of 584)
large intestine 5.34% (31 of 581)
liver 0.0%
lower urinary tract 0.17% (1 of 579)
lung 0.35% (2 of 573)
lymph node 0.18% (1 of 570)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.35% (2 of 574)
ovary 0.17% (1 of 577)
oviduct 0.0%
pancreas 0.86% (5 of 581)
peripheral nervous system 0.35% (2 of 579)
peyers patch 0.0%
pituitary gland 0.17% (1 of 572)
prostate gland 2.08% (12 of 577)
skeletal muscle 0.0%
skin 0.17% (1 of 580)
small intestine 5.51% (32 of 581)
spinal cord 0.35% (2 of 578)
spleen 0.52% (3 of 580)
stomach 3.79% (22 of 580)
striatum 0.52% (3 of 578)
submandibular gland 1.43% (2 of 140)
testis 0.86% (5 of 581)
thalamus 0.0%
thymus 0.17% (1 of 579)
thyroid gland 2.94% (17 of 579)
trachea 0.52% (3 of 579)
urinary bladder 0.0%
uterus 0.35% (2 of 579)
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.

X-ray

XRay Images Whole Body Dorso Ventral

22 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

Adult LacZ

LacZ Images Section

34 Images

X-ray

XRay Images Forepaw

12 Images

X-ray

XRay Images Skull Lateral Orientation

12 Images

X-ray

XRay Images Whole Body Lateral Orientation

22 Images

Sleep Wake

Wake state (bmp file)

12 Images

Eye Morphology

Images Ophthalmoscopy

2 Images

Immunophenotyping

Panel A FCS file(s)

7 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

7 Images

Immunophenotyping

Panel B FCS file(s)

7 Images

Human diseases caused by Satb1 mutations

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

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

The table below shows human diseases associated to Satb1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Developmental Delay With Dysmorphic Facies And Dental Anomalies
EEG abnormality OMIM:619228
Non-Specific Syndromic Intellectual Disability
Conductive hearing impairment, Joint hypermobility, Papilledema, Panic attack, Attention deficit ... ORPHA:528084
Kohlschutter-Tonz Syndrome-Like
Downslanted palpebral fissures, Intrauterine growth retardation, Thick eyebrow, Tremor OMIM:619229

The table below shows human diseases predicted to be associated to Satb1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Buschke-Ollendorff Syndrome
Joint stiffness, Flexion contracture, Osteopoikilosis OMIM:166700
Van Buchem Disease
Increased bone mineral density, Thickened cortex of long bones, Optic atrophy from cranial nerve ... OMIM:239100
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Defective T cell proliferation, Decreased specific ... OMIM:615897
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis, Facial palsy, Optic atrophy, Hearing impairment ORPHA:178377
Hyperlysinemia, Type I
Hyperlysinemia, Hyperactivity, Cognitive impairment OMIM:238700
Hypophosphatemic Rickets, Autosomal Recessive, 1
Sensorineural hearing impairment, Hypophosphatemic rickets, Hypophosphatemia, Increased bone mine... OMIM:241520
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Hyperostosis Corticalis Generalisata
Sensorineural hearing impairment, Generalized osteosclerosis, Facial palsy, Abnormal cortical bon... ORPHA:3416
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Hepatomegaly, Splenomegaly, Aplasia of the thymus, Abnormally low T cell receptor ex... OMIM:602450
Flynn-Aird Syndrome
Joint stiffness, Increased bone mineral density, Osteoporosis, Increased bone density with cystic... OMIM:136300
Sclerosteosis
Sensorineural hearing impairment, Increased bone mineral density, Optic atrophy, Facial palsy, Ab... ORPHA:3152
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Decreased circulating IgA level, Decreased lymphocyte prol... ORPHA:276
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Phosphoserine Phosphatase Deficiency
Postnatal growth retardation, Intrauterine growth retardation OMIM:614023
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Splenomegaly, Pancytopenia, Decreased helper T cell proportion, Cutaneous anergy, Hypersplenism OMIM:183350
Endosteal Hyperostosis, Worth Type
Sensorineural hearing impairment, Clavicular sclerosis, Generalized osteosclerosis, Facial palsy,... ORPHA:2790
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Reticular Dysgenesis
Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Leukopenia, Congenital agranulocy... OMIM:267500
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Lymphopenia OMIM:247630
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Insulin-Like Growth Factor I Deficiency
Sensorineural hearing impairment, Osteopenia, Hyperactivity OMIM:608747
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Immunodeficiency 105
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Hepatosplenomegaly... OMIM:619924
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor... OMIM:615513
Craniodiaphyseal Dysplasia, Autosomal Dominant
Facial diplegia, Cortical sclerosis, Diaphyseal sclerosis, Papilledema, Optic atrophy, Craniofaci... OMIM:122860
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Purine Nucleoside Phosphorylase Deficiency
Decreased lymphocyte proliferation in response to mitogen, Neutropenia in presence of anti-neutro... OMIM:613179
Isolated Osteopoikilosis
Joint stiffness, Abnormal bone ossification, Sclerosis of foot bone, Increased bone mineral densi... ORPHA:166119
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphopenia, Absent specific antibody response, Follicular hyperplasia, Autoimmune thrombocytopen... OMIM:619846
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Caspase 8 Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95-induced lymphocyte... OMIM:607271
Osteopetrosis, Autosomal Dominant 1
Conductive hearing impairment, Osteopetrosis, Generalized osteosclerosis, Calvarial osteosclerosi... OMIM:607634
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Low-set ears, EEG abnormality, Hyperactivity ORPHA:436151
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Immunodeficiency 64
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG level, Incre... OMIM:618534
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Sclerosis of foot bone, Thickened cortex of bones, Arthritis ORPHA:564003
Immunodeficiency 76
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Growth delay, Lymphadenopathy OMIM:619164
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Hepatomega... OMIM:607594
Intermediate Osteopetrosis
Recurrent fractures, Cortical sclerosis, Osteomyelitis, Cranial nerve compression, Osteosclerosis... ORPHA:210110
Immunodeficiency 8
Hyperactivity OMIM:615401
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating IgG level, Cervical lymphadenopathy, Abnormally low T cell receptor excisio... OMIM:618987
Endosteal Hyperostosis, Autosomal Dominant
Sensorineural hearing impairment, Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphysea... OMIM:144750
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Osteopetrosis, Fractures of the long bones, Facial... OMIM:166600
Axial Osteomalacia
Elevated circulating creatine kinase concentration, Osteomalacia, Increased bone mineral density OMIM:109130
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Mediastinal lymphadenopathy,... OMIM:300853
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Mueller-Weiss Syndrome
Joint stiffness, Sclerosis of foot bone, Limitation of movement at ankles, Arthritis, Knee osteoa... ORPHA:566943
Melorheostosis
Joint stiffness, Increased bone mineral density, Arthritis, Hyperostosis, Ectopic ossification in... ORPHA:2485
Agammaglobulinemia, X-Linked
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating IgE, Comp... OMIM:300755
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia OMIM:233650
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Hypsarrhythmia OMIM:619970
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Growth d... ORPHA:169079
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice OMIM:312500
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... OMIM:601859
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy, Partial absence of spe... OMIM:618261
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia... OMIM:619126
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... OMIM:212050
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... OMIM:617514
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Lymphopenia, B lymphocytopenia, Absence of lymph node germinal center, T... ORPHA:277
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgA level, Hepatomegaly, Decreased circulating IgG level, Hypoplasia of the... OMIM:300400
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavior OMIM:619031
Hyperprolinemia, Type I
Hyperprolinemia, EEG abnormality, Hyperactivity, Aggressive behavior OMIM:239500
Immunodeficiency 104
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly OMIM:608971
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... OMIM:616648
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density OMIM:166740
Immunodeficiency 72 With Autoinflammation
Hepatosplenomegaly, Increased circulating IgG level, Increased B cell count, Increased circulatin... OMIM:618982
Dysplastic Cortical Hyperostosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2204
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Decreased lymphocyte proliferation in response to anti-CD3, Hypoplasia of the thymus, B lymphocyt... OMIM:619313
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Hepatomegaly, Decreased circulating IgG level, Splenomegaly, Par... OMIM:240500
Morm Syndrome
Aggressive behavior, Hyperactivity, Retinal atrophy ORPHA:75858
Mu-Heavy Chain Disease
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Abnormal B cell count, Anemia, ... ORPHA:100024
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells, Decreased proportion of C... OMIM:617241
Distal Osteosclerosis
Diaphyseal sclerosis, Hyperostosis, Craniofacial osteosclerosis OMIM:126250
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia, Osteomyelitis, Increased bone mineral density, Craniosynostosis, Osteopetrosis, Fac... OMIM:259700
Albers-Schönberg Osteopetrosis
Recurrent fractures, Mandibular osteomyelitis, Hypocalcemia, Osteomyelitis, Facial palsy, Osteoar... ORPHA:53
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Kimura Disease
Eosinophilia, Follicular hyperplasia, Abnormal salivary gland morphology, Increased circulating I... ORPHA:482
Landau-Kleffner Syndrome
EEG with frontal focal spikes, Social and occupational deterioration, Hyperactivity, Continuous s... ORPHA:98818
Dysosteosclerosis
Recurrent fractures, Coarse metaphyseal trabecularization, Increased bone mineral density, Optic ... ORPHA:1782
Lennox-Gastaut Syndrome
EEG abnormality, Hyperactivity, Mental deterioration, Aggressive behavior, EEG with focal sharp s... ORPHA:2382
Paget Disease Of Bone 5, Juvenile-Onset
Sensorineural hearing impairment, Recurrent fractures, Increased bone mineral density, Retinal de... OMIM:239000
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen, ... ORPHA:169154
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy, Hyperactivity, Macrotia OMIM:300928
Craniometaphyseal Dysplasia
Sensorineural hearing impairment, Conductive hearing impairment, Osteopetrosis, Abnormal cranial ... ORPHA:1522
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... OMIM:603909
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Aggressive behavior, Hyperactivity, Elbow flexion contracture OMIM:619470
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis OMIM:615198
Paget Disease Of Bone 3
Patchy osteosclerosis, Hearing impairment, Osteolysis, Fractures of the long bones OMIM:167250
Mannosidosis, Beta A, Lysosomal
Hearing impairment, Hyperactivity, Aggressive behavior OMIM:248510
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Continuous spike and waves during slow s... OMIM:301008
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Diaphyseal sclerosis, Increased bone mineral density, Irritability, Anxiety, Hypoca... ORPHA:94089
Osteogenesis Imperfecta, Type Xiii
Protruding ear, Osteoporosis, Increased bone mineral density, Joint hypermobility OMIM:614856
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, Ankle flexion contracture,... OMIM:617519
Buschke-Ollendorff Syndrome
Joint stiffness, Recurrent fractures, Flexion contracture, Craniosynostosis, Arthritis, Abnormal ... ORPHA:1306
Immunodeficiency 54
Intrauterine growth retardation, Adrenocorticotropic hormone excess, Hepatomegaly, Splenomegaly, ... OMIM:609981
Mohr-Tranebjaerg Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... ORPHA:52368
Glycine Encephalopathy
Hyperglycinemia, Hyperactivity, Aggressive behavior, Irritability OMIM:605899
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased lymphocyte proliferation in response to anti-CD3, Neutropenia, Lymphopenia, Decreased c... OMIM:618986
Phenylketonuria
Hyperactivity, Self-mutilation, Anxiety, Maternal hyperphenylalaninemia, Attention deficit hypera... OMIM:261600
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:611926
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Abnormal pinna morphology, Hyperactivity, Aggressive behavior OMIM:300983
Hypocalcemia, Autosomal Dominant 2
Postnatal growth retardation OMIM:615361
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal motor ... ORPHA:320401
Autoimmune Hypoparathyroidism
Hypocalcemia, Increased bone mineral density, Irritability, Anxiety, Hypocalcemic tetany, Hyperph... ORPHA:36913
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Facial palsy, Osteopetrosis OMIM:615085
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Synostosis of carpal ... ORPHA:90650
Chondrodysplasia, Blomstrand Type
Advanced tarsal ossification, Advanced ossification of carpal bones, Generalized osteosclerosis OMIM:215045
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment OMIM:125250
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Decreased proportion of CD4+CD25+ regulatory T cells, Monocytopenia, Lymphadeno... OMIM:619802
Osteopetrosis, Autosomal Recessive 2
Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Diaphyseal sclerosis, Cranial nerve... OMIM:259710
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Hepatomegaly, Lymphocytosis, Hemophagocytosis, Splenomegaly, Decreased circulating I... OMIM:308240
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Conjunctivitis, Panhypogammaglobulinemia, B lymphocytopenia, T lymphocytopenia OMIM:601457
Diastrophic Dysplasia
Large earlobe, Joint stiffness, Increased bone mineral density, Overfolded helix, Camptodactyly o... ORPHA:628
Fraxe Intellectual Disability
Prominent ear helix, Hyperactivity, Aggressive behavior ORPHA:100973
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Hypsarrhythmia OMIM:617113
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Hyperactivity, EEG with generalized epileptiform discharges, Self-biting... OMIM:619827
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat... OMIM:619510
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Decreased lymphocyte proliferation in response to anti-CD3, Lymphopenia, Absent peripheral lymph ... OMIM:600802
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Hyperostosis cranialis interna, Increased bone mineral density OMIM:231095
Rasmussen Subacute Encephalitis
EEG with focal spikes, Hyperactivity, Irritability, Continuous spike and waves during slow sleep,... ORPHA:1929
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Encephalopathy, Progressive, With Or Without Lipodystrophy
Mental deterioration, Hypertriglyceridemia, Hyperactivity OMIM:615924
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Decreased circulating IgA level, Decreased lymphocyte proliferation in res... ORPHA:331206
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Anxiety, Aggressive behavior, Macrotia, Low-set ears, Posteriorly rotated ears OMIM:609425
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Ck Syndrome
Hyperactivity, Aggressive behavior, Joint hypermobility, Abnormal cortical bone morphology, Poste... OMIM:300831
Schnitzler Syndrome
Increased bone mineral density, Arthritis ORPHA:37748
Succinic Semialdehyde Dehydrogenase Deficiency
EEG abnormality, Self-injurious behavior, Hyperactivity, Anxiety, Elevated circulating gamma-amin... OMIM:271980
Osteopetrosis, Autosomal Recessive 4
Recurrent fractures, Osteopetrosis, Optic atrophy, Optic disc pallor, Facial palsy OMIM:611490
Burkitt Lymphoma
Abnormality of the lymph nodes, Abnormality of the spleen, Abnormality of the pancreas, Decreased... ORPHA:543
Immunodeficiency 81
Impaired collagen-induced platelet aggregation, Abnormally low T cell receptor excision circle le... OMIM:619374
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Impaired memory B cell generation, Absence of lymph node germinal center, Decreased... OMIM:308230
Fanconi Anemia, Complementation Group J
Bone marrow hypocellularity, Postnatal growth retardation, Intrauterine growth retardation OMIM:609054
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Intrauterine growth retardation OMIM:600546
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Short stature OMIM:615925
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Decreased circulating IgG level, Hemophagocytosis, Splenomegaly, B lymphocytopenia,... OMIM:301078
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Decreased nerve conduction velocity, Irritability... ORPHA:206443
Immunodeficiency 25
Increased circulating IgA level, Eosinophilia, Increased circulating IgG level, T lymphocytopenia... OMIM:610163
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601455
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Retinal detachment, Abnormal bone ossification, Increased bone mineral density, Delayed patellar ... ORPHA:163649
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... ORPHA:231154
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
T-Cell Immunodeficiency With Thymic Aplasia
Lymphopenia, Aplasia of the thymus, Abnormally low T cell receptor excision circle level, Hepatos... OMIM:242700
Dyskeratosis Congenita, Autosomal Recessive 5
Leukopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Postnatal growth r... OMIM:615190
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Optic atrophy, Hypocalcemia, Mental deterioration, Osteopetrosis OMIM:618476
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Anxiety, Abnormality of superior crus of antihelix, Prominent crus of helix, Atten... OMIM:301013
Mucopolysaccharidosis, Type Iiib
Joint stiffness, Hyperactivity, Dense calvaria, Progressive neurologic deterioration, Aggressive ... OMIM:252920
Camurati-Engelmann Disease
Sclerosis of skull base, Cortical thickening of long bone diaphyses, Diaphyseal sclerosis, Increa... OMIM:131300
Late Infantile Neuronal Ceroid Lipofuscinosis
EEG with photoparoxysmal response, Hyperactivity, EEG with spike-wave complexes, Retinal degenera... ORPHA:168491
Spondyloepiphyseal Dysplasia Tarda
Increased bone mineral density, Abnormally ossified vertebrae, Stiff knee, Limited elbow movement... ORPHA:93284
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Perianal abscess, Par... OMIM:618108
Lissencephaly Syndrome, Norman-Roberts Type
Intrauterine growth retardation, Hypoplastic spleen ORPHA:89844
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity, EEG with polyspike wave complexes OMIM:617169
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Hyperactivity, Focal EEG discharges with secondary genera... ORPHA:3077
Metaphyseal Dysplasia, Braun-Tinschert Type
Increased bone mineral density, Osteopenia, Thin bony cortex, Sclerosis of proximal finger phalan... ORPHA:85188
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Increased bone mineral density, Decreased osteoclast count, Hyperbilirubinemia, Ost... OMIM:259720
Osteopathia Striata-Cranial Sclerosis Syndrome
Conductive hearing impairment, Coarse metaphyseal trabecularization, Increased bone mineral densi... ORPHA:2780
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgA level, Lymphopenia, Hepatomegaly, Decreased circulating IgG level, Sple... OMIM:616100
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal auditory evoked potenti... OMIM:201050
Intellectual Developmental Disorder, Autosomal Recessive 39
Anteverted ears, Hyperactivity, Aggressive behavior, Macrotia OMIM:615541
Immunodeficiency 68
Lymphadenitis, Abscess, B lymphocytopenia, T lymphocytopenia, Abnormal natural killer cell count OMIM:612260
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hearing impairment, Hyperactivity, Aggressive behavior, Joint laxity ORPHA:457260
X-Linked Lymphoproliferative Disease
Hemophagocytosis, Cervical lymphadenopathy, Aplastic anemia, B lymphocytopenia, Increased proport... ORPHA:2442
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Facial palsy, Abnormal cranial nerve morphology, Heari... OMIM:601596
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Retinal degeneration, Geographic atrophy, Optic disc pallor, Ab... OMIM:619260
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Increased bone mineral density, Papilledema, Retinal calcification, Hyperphosphatem... OMIM:127000
Dysosteosclerosis
Sclerosis of skull base, Osteopenia, Facial paralysis, Clavicular sclerosis, Optic atrophy, Scler... OMIM:224300
Immunodeficiency 13
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph ... OMIM:612840
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Lymphopenia, ... ORPHA:35078
Beemer-Ertbruggen Syndrome
Increased bone mineral density, Low-set, posteriorly rotated ears ORPHA:1237
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased specific anti-polysaccharide antibody level, Decreased lymphocyte proliferation in resp... OMIM:606367
Autosomal Recessive Hypophosphatemic Rickets
Sensorineural hearing impairment, Pseudo-fractures, Rickets of the lower limbs, Hypophosphatemic ... ORPHA:289176
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Low-set ears, EEG abnormality, Hyperactivity, Self-injurious behavior OMIM:618718
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Absent brainstem auditory responses, Sensorineural hearing impairment, Temporal op... ORPHA:1215
Abcd Syndrome
Total intestinal aganglionosis, Hearing impairment, Aganglionic megacolon, Abnormal auditory evok... OMIM:600501
Immunodeficiency 55
Lymphopenia, Short stature, Absent natural killer cells, Neutropenia, Postnatal growth retardatio... OMIM:617827
Ataxia-Telangiectasia
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Short stature, Int... OMIM:208900
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Immunodeficiency By Defective Expression Of Mhc Class Ii
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Neutropenia, ... ORPHA:572
Combined Immunodeficiency Due To Zap70 Deficiency
Decreased lymphocyte proliferation in response to mitogen, Lymphocytosis, Abnormality of the lymp... ORPHA:911
Cntnap2-Related Developmental And Epileptic Encephalopathy
EEG with focal spikes, Skin-picking, Hyperactivity, Progressive language deterioration, Self-muti... ORPHA:163681
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Thin bony cortex ORPHA:85184
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Optic atrophy, Hearing impairment, Hyperactivity, Aggressive behavior ORPHA:369939
Mirage Syndrome
Lymphopenia, Cryptorchidism, Short stature, Leukopenia, Hypoplastic spleen, Decreased testicular ... OMIM:617053
Arthrogryposis, Distal, Type 2A
Recurrent fractures, Hip contracture, Flexion contracture of finger, Joint contracture of the han... OMIM:193700
Smith-Magenis Syndrome
Head-banging, EEG abnormality, Hyperactivity, Self-mutilation, Morphological abnormality of the m... OMIM:182290
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Hyperactivity, Aggressive behavior ORPHA:382
Cln5 Disease
EEG with focal spikes, Hyperactivity, EEG with spike-wave complexes, Mental deterioration, Anxiet... ORPHA:228360
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Transient hyperphenylalaninemia, Hyperactivity, Aggressive behavior OMIM:612716
Majeed Syndrome
Osteomyelitis, Increased bone mineral density, Flexion contracture, Increased susceptibility to f... ORPHA:77297
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Sensorineural hearing impairment, Congenital sensorineural hearing impairment, Hyperactivity, Ost... ORPHA:73272
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Osteopetrosis, Posteriorly rotated ears OMIM:617306
Cerebrotendinous Xanthomatosis
Optic neuropathy, Abnormal motor evoked potentials, Decreased nerve conduction velocity, Progress... ORPHA:909
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Happy demeanor, EEG abnormality, Hyperactivity ORPHA:411515
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of thoracic vertebral bodies, Absent ossification of cervical vertebral bodie... OMIM:601376
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Hypernatremia, Hypoalbuminemia, Abnormal auditory evoked potent... ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Hypernatremia, Hypoalbuminemia, Abnormal auditory evoked potent... ORPHA:529799
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Myoclonic-Astatic Epilepsy
Hyperactivity, EEG with focal spike waves, EEG with polyspike wave complexes, Abnormal emotion/af... ORPHA:1942
Glycogen Storage Disease Ixc
Growth delay, Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Bile duc... OMIM:613027
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteomyelitis leading to amputation due to slow healing fractures, Diaphyseal cortical sclerosis,... OMIM:112250
Pgm3-Cdg
Cutaneous abscess, Abnormal proportion of CD8-positive T cells, Lymphopenia, Neutropenia in prese... ORPHA:443811
Gracile Bone Dysplasia
Hypoplastic spleen, Asplenia, Short stature OMIM:602361
Tricho-Dento-Osseous Syndrome
Increased bone mineral density ORPHA:3352
Pycnodysostosis
Increased bone mineral density, Mild conductive hearing impairment, Coronal craniosynostosis, Gen... ORPHA:763
Osteopetrosis, Autosomal Recessive 3
Osteopetrosis, Optic nerve compression, Diaphyseal sclerosis, Cranial hyperostosis OMIM:259730
Infantile Krabbe Disease
Decreased nerve conduction velocity, Irritability, Mental deterioration, Progressive neurologic d... ORPHA:206436
Pseudohypoparathyroidism Type 1A
Sensorineural hearing impairment, Hypocalcemia, Increased bone mineral density, Irritability, Red... ORPHA:79443
Schwartz-Jampel Syndrome
Joint stiffness, Hip contracture, Increased bone mineral density, Abnormally ossified vertebrae, ... ORPHA:800
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypomagnesemia, Hypokalemia, Hyperactivity, Self-biting OMIM:618314
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Patchy osteosclerosis, Hyperphosphatemia, Low-set ears, Posteriorly rotated ears, H... OMIM:241410
Fragile X Syndrome
Self-biting, Hyperactivity, Joint laxity, Macrotia OMIM:300624
Gaucher Disease Type 1
Increased bone mineral density, Osteopenia, Osteoarthritis, Pathologic fracture, Osteolysis ORPHA:77259
Adult Krabbe Disease
Mental deterioration, EEG abnormality, Progressive neurologic deterioration, Prolonged brainstem ... ORPHA:206448
Infantile Neuroaxonal Dystrophy
Hyperactivity, Flexion contracture, Abnormal autonomic nervous system physiology, Mental deterior... ORPHA:35069
Werner Syndrome
Joint stiffness, Abnormality of retinal pigmentation, Osteoporosis, Increased bone mineral density ORPHA:902
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Self-mutilation OMIM:615516
Pseudohypoparathyroidism Type 1C
Hypocalcemia, Increased bone mineral density, Irritability, Ectopic ossification, Anxiety, Hypoca... ORPHA:79444
Hyperoxaluria, Primary, Type I
Optic neuropathy, Increased bone mineral density, Pathologic fracture, Optic atrophy, Hyperoxaluria OMIM:259900
Hereditary Elliptocytosis
Cholelithiasis, Stomatocytosis, Splenomegaly, Hemolytic anemia, Poikilocytosis, Congenital hemoly... ORPHA:288
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Chromosome Xq13 Duplication Syndrome
Hyperactivity, Finger joint hypermobility, Anxiety, Limited elbow extension, Attention deficit hy... OMIM:301069
Desmosterolosis
Large earlobe, Increased bone mineral density, Osteopetrosis, Low-set, posteriorly rotated ears, ... ORPHA:35107
Mucopolysaccharidosis, Type Iiic
Joint stiffness, Hyperactivity, Dense calvaria, Motor deterioration, Hearing impairment OMIM:252930
X-Linked Hypophosphatemia
Sensorineural hearing impairment, Hypophosphatemia, Reduced bone mineral density, Craniosynostosi... ORPHA:89936
Charcot-Marie-Tooth Disease Type 1F
Sensorineural hearing impairment, Absent brainstem auditory responses, Flexion contracture of fin... ORPHA:101085
Hereditary Orotic Aciduria
Downslanted palpebral fissures, Anemia, Impaired T cell function, Splenomegaly ORPHA:30
Raine Syndrome
Abnormal pinna morphology, Protruding ear, Hypophosphatemia, Increased bone mineral density, Mixe... OMIM:259775
Adult-Onset Autosomal Dominant Leukodystrophy
Sensorineural hearing impairment, Abnormal autonomic nervous system physiology, Flexion contractu... ORPHA:99027
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Increased circulating ferritin concentration, Absent brainstem auditory responses, Vestibular are... ORPHA:3240
Mucopolysaccharidosis, Type Iiia
Joint stiffness, Hearing impairment, Hyperactivity, Dense calvaria OMIM:252900
Poems Syndrome
Papilledema, Sclerosis of skull base, Sclerosis of hand bone, Sclerosis of foot bone ORPHA:2905
Pearson Syndrome
Hypoparathyroidism, Growth delay, Exocrine pancreatic insufficiency, Neutropenia, Hepatomegaly, D... ORPHA:699
Pitt-Hopkins-Like Syndrome 1
EEG abnormality, Hyperactivity, Aggressive behavior, Progressive language deterioration OMIM:610042
Trichothiodystrophy
Multiple joint contractures, Protruding ear, Increased bone mineral density, Macular degeneration... ORPHA:33364
Sclerosteosis 1
Cortically dense long tubular bones, Cognitive impairment, Papilledema, Facial palsy, Optic atrop... OMIM:269500
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Short stature, Splenomegaly, Impaired T cell function, Tremor, Decreased testicular... OMIM:201100
Otopalatodigital Syndrome Type 2
Carpal synostosis, Abnormal pinna morphology, Increased bone mineral density, Abnormal vertebral ... ORPHA:90652
Dysostosis, Stanescu Type
Increased bone mineral density, Massively thickened long bone cortices ORPHA:1798
Optic Nerve Hypoplasia, Bilateral
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system OMIM:165550
Microphthalmia, Syndromic 9
Multilobulated spleen, Short stature, Hypoplastic spleen, Cryptorchidism, Blepharophimosis, Intra... OMIM:601186
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Hyperactivity, Hypoproteinemia, Decreased HDL cholesterol c... ORPHA:247585
Desmosterolosis
Joint contracture of the hand, Cupped ear, Generalized osteosclerosis, Abnormal circulating chole... OMIM:602398
Gaucher Disease
Joint stiffness, Recurrent fractures, Osteomyelitis, Elevated circulating C-reactive protein conc... ORPHA:355
Osteopetrosis, Autosomal Recessive 7
Osteopetrosis, Abnormal trabecular bone morphology, Optic atrophy, Optic nerve compression, Hypoc... OMIM:612301
X-Linked Creatine Transporter Deficiency
Hyperactivity, Self-mutilation, Joint hyperflexibility, Abnormal circulating creatine concentrati... ORPHA:52503
Lenz-Majewski Hyperostotic Dwarfism
Increased bone mineral density, Elbow ankylosis, Osteopetrosis, Joint hyperflexibility, Macrotia,... ORPHA:2658
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity, Hypsarrhythmia, EEG with burst suppression OMIM:619239
X-Linked Adrenoleukodystrophy
Hyperactivity, Cognitive impairment, Progressive hearing impairment, Attention deficit hyperactiv... ORPHA:43
Thymic Aplasia
Decreased proportion of naive T cells, Decreased lymphocyte proliferation in response to mitogen,... ORPHA:83471
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Increased blood urea nitrogen, Pigmentary retinopathy, Optic... ORPHA:90321
Cockayne Syndrome A
Sensorineural hearing impairment, Hip contracture, Abnormal pinna morphology, Ivory epiphyses of ... OMIM:216400
Sanjad-Sakati Syndrome
Hypocalcemia, Patchy osteosclerosis, External ear malformation, Low-set, posteriorly rotated ears... ORPHA:2323
Gaucher Disease Type 3
Osteolysis, Increased bone mineral density, Increased susceptibility to fractures, Dementia ORPHA:77261
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Joint ... ORPHA:449291
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis OMIM:618541
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Hyperactivity, Macrotia OMIM:618504
Mend Syndrome
Hyperactivity, Elevated 8(9)-cholestenol, Aggressive behavior, Abnormal auditory evoked potential... ORPHA:401973
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Increased bone mineral density OMIM:265800
Insensitivity To Pain, Congenital, With Anhidrosis
Osteomyelitis, Hyperactivity, Abnormal autonomic nervous system physiology, Self-mutilation, Post... OMIM:256800
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased specific anti-polysaccharide antibody level, Lymphopenia, Increased circulating IgA lev... OMIM:600903
Immunodeficiency 17
T lymphocytopenia, Decreased proportion of CD8-positive T cells, Abnormal B cell morphology, Chro... OMIM:615607
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Remnants of the hyaloid vascular system, Microtia, Optic nerve hypoplasia, Elevated circulating c... OMIM:614643
12Q14 Microdeletion Syndrome
Osteopoikilosis ORPHA:94063
Cockayne Syndrome B
Sensorineural hearing impairment, Abnormal pinna morphology, Ivory epiphyses of the phalanges of ... OMIM:133540
Primary Hyperoxaluria
Recurrent fractures, Optic atrophy, Optic disc pallor, Generalized osteosclerosis, Hyperoxaluria ORPHA:416
Wiskott-Aldrich Syndrome
Decreased specific anti-polysaccharide antibody level, Lymphopenia, Increased circulating IgA lev... OMIM:301000
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Atypical Werner Syndrome
Abnormality of retinal pigmentation, Increased bone mineral density, Retinal degeneration, Reduce... ORPHA:79474
Autosomal Recessive Malignant Osteopetrosis
Recurrent fractures, Hypophosphatemia, Hypocalcemia, Reduced bone mineral density, Osteopetrosis,... ORPHA:667
Developmental Delay With Dysmorphic Facies And Dental Anomalies
EEG abnormality OMIM:619228
Osteopetrosis With Renal Tubular Acidosis
Conductive hearing impairment, Recurrent fractures, Hypocalcemia, Cranial nerve compression, Oste... ORPHA:2785
Erdheim-Chester Disease
Osteomyelitis, Osteolysis, Increased bone mineral density ORPHA:35687
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Short-segment aganglionic megacolon, Absent brainstem auditory responses, Hypoplasia of the semic... OMIM:609136
Trisomy 10P
EEG with focal spikes, Flexion contracture of thumb, Low voltage EEG, EEG with burst suppression,... ORPHA:171929
Spastic Paraplegia 29, Autosomal Dominant
Sensorineural hearing impairment, Neonatal hyperbilirubinemia, Hyperactivity OMIM:609727
Blomstrand Lethal Chondrodysplasia
Low-set ears, Increased bone mineral density, Synostosis of joints ORPHA:50945
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Impaired T cell function, Po... OMIM:258900
Coloboma, Ocular, Autosomal Dominant
Remnants of the hyaloid vascular system, Optic nerve aplasia, Optic disc coloboma OMIM:120200
Mucopolysaccharidosis Type 2
Sensorineural hearing impairment, Otosclerosis, Conductive hearing impairment, Abnormality of ret... ORPHA:580
Cleidocranial Dysplasia 1
Hearing impairment, Delayed pubic bone ossification, Increased bone mineral density, Increased su... OMIM:119600
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system ORPHA:231736
Oculo-Palato-Cerebral Syndrome
Remnants of the hyaloid vascular system, Retinal detachment, Macrotia, Joint hypermobility, Thick... ORPHA:2714
Williams Syndrome
Sensorineural hearing impairment, Joint stiffness, Protruding ear, Increased bone mineral density... ORPHA:904
Mogs-Cdg
Optic atrophy, Absent brainstem auditory responses, Sensorineural hearing impairment ORPHA:79330
Histidinemia
Hyperhistidinemia, Hyperactivity ORPHA:2157
Sarcoidosis, Susceptibility To, 1
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Ab... OMIM:181000
Neurodegeneration With Brain Iron Accumulation 2B
Optic atrophy, Hyperactivity, Mental deterioration, Emotional lability OMIM:610217
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Argininemia
Hyperargininemia, Hyperactivity, Irritability, Hyperammonemia OMIM:207800
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Remnants of the hyaloid vascular system, Hyaloid vascu... ORPHA:91495
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Multiple joint contractures, Protruding ear, Hyperactivity, Irritability, Hypsarrhythmia, Low-set... ORPHA:447997
Norrie Disease
Sensorineural hearing impairment, Protruding ear, EEG abnormality, Abnormal helix morphology, Rem... ORPHA:649
Neurofibromatosis Type 2
Sensorineural hearing impairment, Remnants of the hyaloid vascular system, Bilateral vestibular s... ORPHA:637
Choreoacanthocytosis
Bradyphrenia, Apathy, Head-banging, Hyperactivity, Self-injurious behavior, Abnormal autonomic ne... ORPHA:2388
Schinzel-Giedion Midface Retraction Syndrome
Sclerosis of skull base, Thickened cortex of long bones, Increased density of long bones, Hypsarr... OMIM:269150
Pierson Syndrome
Remnants of the hyaloid vascular system, Retinal detachment, Retinal hemorrhage, Hypoproteinemia OMIM:609049
Microphthalmia, Syndromic 2
Sensorineural hearing impairment, Remnants of the hyaloid vascular system, Contracture of the pro... OMIM:300166
Neuroocular Syndrome
Remnants of the hyaloid vascular system, Hyperextensibility of the finger joints, Cupped ear, Anx... OMIM:619539
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Abnormality of T cell physiology, Parathyroid hypoplasia, Severe postnatal gr... ORPHA:2237
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal nonattachment, Remnants of the hyaloid vascular system OMIM:221900
Non-Specific Syndromic Intellectual Disability
Conductive hearing impairment, Joint hypermobility, Papilledema, Panic attack, Attention deficit ... ORPHA:528084
Holoprosencephaly 2
Remnants of the hyaloid vascular system OMIM:157170
Kohlschutter-Tonz Syndrome-Like
Downslanted palpebral fissures, Intrauterine growth retardation, Thick eyebrow, Tremor OMIM:619229

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 Satb1

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 Satb1.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Satb1 Regulates Contactin 5 to Pattern Dendrites of a Mammalian Retinal Ganglion Cell. Neuron (August 2017) Satb1tm1a(EUCOMM)Hmgu PMC5575751
Satb1 Overexpression Drives Tumor-Promoting Activities in Cancer-Associated Dendritic Cells. Cell reports (February 2016) Satb1tm1a(EUCOMM)Hmgu PMC4767618
Maturation-promoting activity of SATB1 in MGE-derived cortical interneurons. Cell reports (November 2012) Satb1tm1a(EUCOMM)Hmgu PMC3607226

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Satb1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Satb1tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Satb1tm83411(L1L2_gt1_Del_LacZ) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Satb1tm83411(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Satb1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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