Gene Summary

Name:
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
Synonyms:
Snf2l2,  brm,  2610209L14Rik

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
hyperactivity Smarca2em1(IMPC)J HOM Early adult 1.46×10-10
increased circulating phosphate level Smarca2em1(IMPC)J HOM   Early adult 6.07×10-06
increased circulating bilirubin level Smarca2em1(IMPC)J HOM Early adult 1.88×10-11
increased circulating aspartate transaminase level Smarca2em1(IMPC)J HOM Early adult 1.45×10-06

Download data as:  TSV  XLS

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

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Lateral Orientation

9 Images

Electrocardiogram (ECG)

Waveform Image

15 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

X-ray

XRay Images Forepaw

9 Images

Eye Morphology

Images Ophthalmoscopy

2 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

Auditory Brain Stem Response

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

6 Images

Human diseases caused by Smarca2 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 Smarca2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Blepharophimosis-Impaired Intellectual Development Syndrome
Attention deficit hyperactivity disorder OMIM:619293
Nicolaides-Baraitser Syndrome
Failure to thrive OMIM:601358
Nicolaides-Baraitser Syndrome
ORPHA:3051
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
ORPHA:2728

The table below shows human diseases predicted to be associated to Smarca2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spermatogenic Failure 3
Infertility OMIM:606766
Spermatogenic Failure 17
Infertility OMIM:617214
Oocyte Maturation Defect 3
Infertility OMIM:617712
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 4
Infertility OMIM:617743
Oocyte Maturation Defect 5
Infertility OMIM:617996
Preimplantation Embryonic Lethality 2
Infertility OMIM:617234
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Nondisjunction
Decreased fertility OMIM:158250
Hydatidiform Mole, Recurrent, 3
Infertility OMIM:618431
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Spermatogenic Failure 22
Azoospermia, Infertility OMIM:617706
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Spermatogenic Failure 18
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617576
Spermatogenic Failure 20
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617593
Spermatogenic Failure 19
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617592
Spermatogenic Failure 35
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618153
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility OMIM:136580
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Oocyte Maturation Defect 1
Female infertility OMIM:615774
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Endometriosis, Susceptibility To, 1
Endometriosis, Decreased fertility, Dysmenorrhea OMIM:131200
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Truncal obesity OMIM:240900
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia OMIM:618660
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Hyperlysinemia, Type I
Hyperactivity, Hyperlysinemia OMIM:238700
Oocyte Maturation Defect 12
Female infertility OMIM:619697
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Spermatogenic Failure 62
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619672
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Spermatogenic Failure 12
Azoospermia, Infertility OMIM:615413
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Prader-Willi syndrome (Type 1)
Hypogonadism, Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Hypogonadism, Truncal obesity DECIPHER:53
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94090
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154275
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia OMIM:146200
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Macrosomia With Microphthalmia, Lethal
Large for gestational age OMIM:248110
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Rotor Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia ORPHA:3111
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Malignant Hyperthermia, Susceptibility To, 3
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154276
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Male infertility, Coiled sperm ... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619094
Osteomesopyknosis
Infertility OMIM:166450
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia OMIM:179700
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Spermatogenic Failure 48
Azoospermia, Oligospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619108
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Bardet-Biedl Syndrome 11
Obesity, Hypogonadism OMIM:615988
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:145600
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Spermatogenic Failure 46
Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Short sperm flagella, Coi... OMIM:619095
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Infertility OMIM:300719
Hyperphosphatemia, Polyuria, And Seizures
Hyperphosphatemia OMIM:239350
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Increased circulating renin level, Hypocalcemia, Hyperphosphatemia, Hypomagnesemia OMIM:601198
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:619102
Immunodeficiency 8
Hyperactivity OMIM:615401
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Elevated plasma citrulline, Hypermethioninemia, Hyperbilirubinemia, Hypertr... OMIM:605814
Spermatogenic Failure 64
Oligospermia, Abnormal sperm head morphology, Male infertility, Reduced progressive sperm motility OMIM:619696
Spermatogenic Failure 58
Irregularly shaped sperm tail, Oligospermia, Male infertility, Short sperm flagella, Immotile spe... OMIM:619585
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm, Coil... OMIM:618664
Spermatogenic Failure 41
Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligospermia, Male infertility, Reduc... ORPHA:529970
Hyperprolactinemia
Menorrhagia, Infertility, Oligomenorrhea OMIM:615555
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619528
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Bardet-Biedl Syndrome 12
Obesity, Hypogonadism OMIM:615989
Spermatogenic Failure, X-Linked, 3
Irregularly shaped sperm tail, Absent sperm flagella, Oligospermia, Male infertility, Short sperm... OMIM:301059
Malaria
Elevated circulating C-reactive protein concentration, Hyperbilirubinemia ORPHA:673
Prolactin Deficiency, Isolated
Infertility, Irregular menstruation OMIM:264110
Spermatogenic Failure 50
Azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619145
Spermatogenic Failure 56
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Oligospermia, Male ... OMIM:619515
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure 42
Microcephalic sperm head, Absent sperm flagella, Tapered sperm head, Male infertility, Short sper... OMIM:618745
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, ... OMIM:618643
Spermatogenic Failure 63
Oligospermia, Male infertility, Reduced progressive sperm motility OMIM:619689
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Spermatogenic Failure 65
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Abnormal sperm mid-... OMIM:619712
Cortisone Reductase Deficiency 1
Infertility, Obesity, Oligomenorrhea OMIM:604931
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal hypophosphatemia OMIM:241519
Dysplasia Epiphysealis Hemimelica
Overgrowth OMIM:127800
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia OMIM:237800
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Spermatogenic Failure 54
Tapered sperm head, Oligospermia, Male infertility, Abnormal sperm axoneme morphology, Cryptozoos... OMIM:619379
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Macrosomia Adiposa Congenita
Large for gestational age, Obesity OMIM:248100
Acromegaloid Facial Appearance Syndrome
Large for gestational age OMIM:102150
Gordon Holmes Syndrome
Hypogonadotropic hypogonadism, Oligomenorrhea, Infertility OMIM:212840
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age OMIM:601820
Summitt Syndrome
Obesity OMIM:272350
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Hypophosphatemia OMIM:241520
Hyperphosphatasia With Mental Retardation Syndrome 3
Hyperphosphatemia OMIM:614207
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age OMIM:256450
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity OMIM:617796
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age ORPHA:356996
Asherman Syndrome
Decreased fertility in females, Infertility, Dysmenorrhea, Miscarriage, Secondary amenorrhea, Met... ORPHA:137686
Spermatogenic Failure 6
Decreased acrosin in sperm head, Male infertility, Globozoospermia OMIM:102530
Spermatogenic Failure, X-Linked, 2
Azoospermia, Male infertility, Testicular atrophy OMIM:309120
Hypogonadism-Cataract Syndrome
Infertility, Male hypogonadism, Hypogonadism OMIM:240950
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Abdominal obesity, Truncal obesity OMIM:618160
Autoimmune Hypoparathyroidism
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:36913
Calciphylaxis
Hyperphosphatemia ORPHA:280062
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia OMIM:601775
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity OMIM:615493
Bile Acid Synthesis Defect, Congenital, 5
Hyperbilirubinemia, Increased serum bile acid concentration, Increased total iron binding capacity OMIM:616278
Polycystic Ovary Syndrome 1
Obesity, Amenorrhea, Oligomenorrhea OMIM:184700
Familial Hyperprolactinemia
Infertility, Female hypogonadism, Amenorrhea, Menorrhagia, Oligomenorrhea ORPHA:397685
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia OMIM:609734
Body Mass Index Quantitative Trait Locus 20
Obesity, Tall stature OMIM:618406
Cholestasis, Benign Recurrent Intrahepatic, 1
Increased serum bile acid concentration, Conjugated hyperbilirubinemia OMIM:243300
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Truncal obesity ORPHA:293964
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Unconjugated hyperbilirubinemia, Increased serum ir... ORPHA:766
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hypocalcemia, Hyperphosphatemia, Highly elevated creatine kinase ORPHA:99845
Isolated Polycystic Liver Disease
Increased total bilirubin ORPHA:2924
Biliary Atresia, Extrahepatic
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin OMIM:210500
Liver Failure, Infantile, Transient
Hyperbilirubinemia OMIM:613070
Bardet-Biedl Syndrome 10
Obesity, Hypogonadism OMIM:615987
Hepatic Veno-Occlusive Disease
Increased total bilirubin ORPHA:890
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Developmental And Epileptic Encephalopathy 43
Hyperactivity OMIM:617113
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94089
Hyperprolinemia, Type I
Hyperprolinemia, Hyperactivity OMIM:239500
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Pseudohypoparathyroidism, Type Ic
Hyperphosphatemia, Hypocalcemic tetany OMIM:612462
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Narcolepsy Type 1
Obesity ORPHA:2073
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia OMIM:619232
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hypermethioninemia, Hyperbilirubinemia OMIM:614300
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Conjugated hyperbilirubinemia OMIM:214900
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Infertility OMIM:146110
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Hyperphosphatemia OMIM:211900
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Pseudohypoparathyroidism, Type Ia
Hyperphosphatemia, Hypocalcemic tetany OMIM:103580
Bardet-Biedl Syndrome 5
Obesity, Hypogonadism OMIM:615983
Lipoyltransferase 1 Deficiency
Increased total bilirubin OMIM:616299
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin OMIM:618528
Syndromic X-Linked Intellectual Disability 7
Obesity, Hypogonadism ORPHA:85274
Dent Disease 2
Elevated circulating creatine kinase concentration, Hypophosphatemia OMIM:300555
Histidinemia
Hyperactivity, Hyperhistidinemia ORPHA:2157
Spherocytosis, Type 4
Hyperbilirubinemia OMIM:612653
Bardet-Biedl Syndrome 19
Obesity, Hypogonadism OMIM:615996
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia OMIM:268150
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Elliptocytosis 2
Neonatal hyperbilirubinemia OMIM:130600
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Hypophosphatemia OMIM:193100
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Obesity OMIM:264010
Harderoporphyria
Increased circulating ferritin concentration, Neonatal hyperbilirubinemia OMIM:618892
Hyperostosis Frontalis Interna
Obesity, Irregular menstruation OMIM:144800
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Elevated alpha-fetoprotein, Abnormal circulating serine concentration, Hyperly... ORPHA:247598
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia OMIM:239000
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia, Hyperactivity OMIM:609727
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Spinocerebellar Ataxia 32
Azoospermia, Infertility, Testicular atrophy OMIM:613909
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level ORPHA:95715
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Hyperkalemia, Hyperphosphatemia ORPHA:423
Glycine Encephalopathy
Hyperglycinemia, Hyperactivity OMIM:605899
Neuroleptic Malignant Syndrome
Hyponatremia, Hyperkalemia, Hypocalcemia, Hyperuricemia, Elevated circulating creatine kinase con... ORPHA:94093
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia ORPHA:2323
Bardet-Biedl Syndrome 6
Obesity OMIM:605231
Spherocytosis, Type 1
Hyperbilirubinemia OMIM:182900
Bile Acid Synthesis Defect, Congenital, 4
Hyperbilirubinemia OMIM:214950
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:605479
Morbid Obesity And Spermatogenic Failure
Azoospermia, Oligospermia, Infertility, Obesity OMIM:615703
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Carcinoma Of Esophagus
Obesity, Weight loss ORPHA:70482
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity, Hypogonadism OMIM:617119
Spherocytosis, Type 2
Hyperbilirubinemia OMIM:616649
Glycogen Storage Disease Vii
Increased total bilirubin, Hyperuricemia OMIM:232800
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia OMIM:127000
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Elevated hepatic iron concentration, Conjugated hyp... OMIM:616860
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Overhydrated Hereditary Stomatocytosis
Hyperbilirubinemia OMIM:185000
Congenital Dyserythropoietic Anemia Type Iii
Increased serum iron, Hyperbilirubinemia, Increased total iron binding capacity ORPHA:98870
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia ORPHA:95717
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Hyperbilirubinemia, Hypertriglyceridemia, Elevated ... ORPHA:158057
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Hyperphosphatemia ORPHA:457059
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Hypertriglyceridemia OMIM:615924
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
Familial Isolated Hyperparathyroidism
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:99879
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Obesity, Hypogonadism ORPHA:141333
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia ORPHA:234
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Neonatal hyperbilirubinemia, Hyperactivity, Attention deficit hyperactivity disorder ORPHA:73272
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Hyperbilirubinemia OMIM:235700
Hernández-Aguirre Negrete Syndrome
Obesity ORPHA:2139
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90037
Hypermanganesemia With Dystonia 1
Unconjugated hyperbilirubinemia, Increased total iron binding capacity, Hypermanganesemia OMIM:613280
Obesity Due To Melanocortin 4 Receptor Deficiency
Obesity, Childhood-onset truncal obesity ORPHA:71529
Bachmann-Bupp Syndrome
Hyperbilirubinemia, Attention deficit hyperactivity disorder OMIM:619075
Autosomal Dominant Hypocalcemia
Hypocalcemia, Hypomagnesemia, Hyperphosphatemia ORPHA:428
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia OMIM:619484
Infantile Sialic Acid Storage Disease
Conjugated hyperbilirubinemia OMIM:269920
Bile Acid Synthesis Defect, Congenital, 2
Hyperbilirubinemia OMIM:235555
Fanconi Renotubular Syndrome 2
Hypophosphatemia OMIM:613388
Central Precocious Puberty
Obesity, Increased body weight, Overgrowth ORPHA:759
Phenylketonuria
Attention deficit hyperactivity disorder, Hyperactivity, Maternal hyperphenylalaninemia, Hyperphe... OMIM:261600
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Hypophosphatemia OMIM:618913
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Increased total bili... OMIM:267700
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Decreased fertility, Obesity, Hypogonadism ORPHA:2233
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypokalemia, Hypomagnesemia, Hyperactivity OMIM:618314
Pseudohypoparathyroidism Type 1C
Hypocalcemic seizures, Hypocalcemia, Calcinosis, Hyperphosphatemia, Hypocalcemic tetany ORPHA:79444
Abcd Syndrome
Large for gestational age OMIM:600501
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Intellectual Developmental Disorder With Autism And Macrocephaly
Tall stature, Overweight OMIM:615032
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hyperbilirubinemia ORPHA:713
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Hyperbilirubinemia, Increased serum bile acid concentration OMIM:619685
Acrodysostosis 1 With Or Without Hormone Resistance
Hyperphosphatemia OMIM:101800
Dehydrated Hereditary Stomatocytosis 2
Hyperbilirubinemia OMIM:616689
Leptin Deficiency Or Dysfunction
Obesity, Primary amenorrhea, Hypogonadism OMIM:614962
Cholestasis, Progressive Familial Intrahepatic, 5
Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Hyperammonemia OMIM:617049
Congenital Bile Acid Synthesis Defect Type 2
Hyperbilirubinemia, Conjugated hyperbilirubinemia, Abnormal serum bile acid concentration ORPHA:79303
Congenital Bile Acid Synthesis Defect Type 3
Hyperbilirubinemia ORPHA:79302
Fanconi Renotubular Syndrome 1
Hypokalemia, Hypophosphatemia OMIM:134600
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia OMIM:612089
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hypophosphatemia ORPHA:89937
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating beta-C-terminal telopeptide level, Hypophosphatemic rickets, Hypophosphatemia ORPHA:157215
Hypothyroidism, Central, With Testicular Enlargement
Overweight OMIM:300888
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity ORPHA:88643
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Transient hyperphenylalaninemia OMIM:612716
Halothane Hepatitis
Obesity OMIM:234350
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529799
Chronic Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hypernatremia, Hypoalbuminemia ORPHA:529808
Familial Thyroid Dyshormonogenesis
Neonatal hyperbilirubinemia, Abnormal circulating thyroglobulin level ORPHA:95716
Bardet-Biedl Syndrome 7
Obesity, Hypogonadism OMIM:615984
Mixed-Type Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90036
Refractory Celiac Disease
Hypoproteinemia, Hypocalcemia, Hypophosphatemia, Hypoalbuminemia, Hypomagnesemia ORPHA:398063
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Pseudohypoparathyroidism Type 1A
Hypocalcemic seizures, Hypocalcemia, Calcinosis, Hyperphosphatemia, Hypocalcemic tetany ORPHA:79443
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia OMIM:308990
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated alpha-fetoprotein, Hypercholesterolemia, Increased serum bile acid concentration, Conjug... OMIM:619662
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Azoospermia, Infertility, Primary amenorrhea, Hypogonadism OMIM:229070
Hypogonadotropic Hypogonadism 27 Without Anosmia
Obesity OMIM:619755
Linear Verrucous Nevus Syndrome
Hypophosphatemia ORPHA:2611
Bile Acid Synthesis Defect, Congenital, 1
Hypocholesterolemia, Hyperbilirubinemia OMIM:607765
Pyruvate Kinase Deficiency Of Red Cells
Unconjugated hyperbilirubinemia OMIM:266200
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hyperbilirubinemia, Elevated circulating long chain fatty acid concentration OMIM:614886
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity ORPHA:329249
Acrodysostosis With Multiple Hormone Resistance
Hypocalcemia, Hyperphosphatemia, Hyperactivity ORPHA:280651
Bardet-Biedl Syndrome 8
Obesity, Hypogonadism OMIM:615985
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hyperbilirubinemia, Hypoalbuminemia OMIM:251880
Wolcott-Rallison Syndrome
Hypoalbuminemia, Hyperbilirubinemia, Hyperammonemia, Hyponatremia ORPHA:1667
Solute carrier family 4 (anion exchanger), member 1
Hyperbilirubinemia OMIM:109270
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity OMIM:619031
Autosomal Dominant Kenny-Caffey Syndrome
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:93325
Body Mass Index Quantitative Trait Locus 19
Obesity OMIM:617885
Distal Xq28 Microduplication Syndrome
Neonatal hyperbilirubinemia, Attention deficit hyperactivity disorder ORPHA:293939
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Hypogonadotropic hypogonadism, Obesity, Primary amenorrhea OMIM:610628
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Infertility OMIM:264300
Bardet-Biedl Syndrome 4
Obesity, Hypogonadism OMIM:615982
Cholestasis, Progressive Familial Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:601847
Dehydrated Hereditary Stomatocytosis
Increased circulating ferritin concentration, Abnormal blood potassium concentration, Neonatal hy... ORPHA:3202
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperkalemia, Hypocalcemia, Hyperphosphatemia ORPHA:466650
Hepatoportal Sclerosis
Hyperbilirubinemia, Hypoalbuminemia ORPHA:64743
Intrahepatic Cholestasis Of Pregnancy
Hyperbilirubinemia, Increased serum bile acid concentration ORPHA:69665
Uremic Pruritus
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia ORPHA:94059
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Conjugated hyperbilirubinemia OMIM:613404
Morm Syndrome
Hyperactivity ORPHA:75858
Cholestasis, Progressive Familial Intrahepatic, 1
Conjugated hyperbilirubinemia OMIM:211600
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Unconjugated hyperbilirubinemia, Decreased glucose-6-phosphate dehydrogenase level in blood OMIM:300908
Fanconi-Bickel Syndrome
Hypokalemia, Hypophosphatemia, Hypouricemia OMIM:227810
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:542323
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Relapsing Fever
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:91547
Hereditary Elliptocytosis
Neonatal hyperbilirubinemia, Hyperbilirubinemia ORPHA:288
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Decreased fertility, Obesity, Hypogonadism, Eunuchoid habitus ORPHA:2234
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Hypertriglyceridemia... OMIM:603553
Colchicine Poisoning
Hypokalemia, Hyponatremia, Abnormal blood ion concentration, Hypocalcemia, Hypophosphatemia, Hypo... ORPHA:31824
Bardet-Biedl Syndrome 2
Obesity, Hypogonadism OMIM:615981
Proprotein Convertase 1/3 Deficiency
Hypogonadotropic hypogonadism, Obesity, Primary amenorrhea OMIM:600955
Pyruvate Carboxylase Deficiency
Hypernatremia, Hypertaurinemia, Hyperlysinemia, Hyperprolinemia, Increased serum pyruvate, Elevat... ORPHA:3008
Sickle Cell Anemia
Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:232
Nephronophthisis 15
Obesity OMIM:614845
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Obesity, Hypergonadotropic hypogonadism ORPHA:2183
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration ORPHA:340
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Hyperbilirubinemia OMIM:613673
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Conjugated hyperbilirubinemia OMIM:208085
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Narcolepsy 7
Obesity OMIM:614250
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic rickets, Hypophosphatemia OMIM:307800
Succinic Semialdehyde Dehydrogenase Deficiency
Elevated circulating gamma-aminobutyric acid concentration, Hyperactivity OMIM:271980
Rh Deficiency Syndrome
Reduced haptoglobin level, Hyperbilirubinemia ORPHA:71275
Cystinosis
Hypokalemia, Hypophosphatemia ORPHA:213
Ring Chromosome Y Syndrome
Azoospermia, Abnormal spermatogenesis, Obesity, Male hypogonadism, Male infertility, Female infer... ORPHA:261529
Fumarase Deficiency
Hyperbilirubinemia OMIM:606812
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Decreased plasma total carnitine, Elevated circulating creatinine concentration, Elevated circula... OMIM:608836
Isolated Thyroid-Stimulating Hormone Deficiency
Neonatal hyperbilirubinemia, Attention deficit hyperactivity disorder, Abnormal circulating thyro... ORPHA:90674
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypophosphatemia, Hypouricemia OMIM:616026
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypophosphatemia, Hypercalcemia OMIM:600740
Perrault Syndrome 4
Primary amenorrhea, Obesity, Secondary amenorrhea, Premature ovarian insufficiency, Disproportion... OMIM:615300
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hyperbilirubinemia, Hyperalaninemia, Hyperuricemia ORPHA:348
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemic rickets, Hypophosphatemia OMIM:241530
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Hypophosphatemia ORPHA:93160
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia OMIM:600081
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body weight, Increased body mass index OMIM:614450
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Obesity, Hypogonadism OMIM:601794
Coenzyme Q10 Deficiency, Primary, 2
Obesity OMIM:614651
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hyperbilirubinemia OMIM:259720
Hypothyroidism Due To Tsh Receptor Mutations
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:90673
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypophosphatemia, Hypocalcemic seizures OMIM:264700
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemic rickets, Hypophosphatemia OMIM:300554
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Hypophosphatemia, Calcinosis OMIM:239200
Fructose Intolerance, Hereditary
Bicarbonaturia, Hyperuricosuria, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia OMIM:229600
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Obesity, Hypogonadism ORPHA:363741
Hereditary Spherocytosis
Hyperbilirubinemia ORPHA:822
Abetalipoproteinemia
Hypotriglyceridemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hypoalbuminemia... ORPHA:14
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia OMIM:156400
Cystic Echinococcosis
Hyperbilirubinemia ORPHA:400
Vitamin D-Dependent Rickets, Type 2A
Hypophosphatemia, Hypocalcemic seizures OMIM:277440
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia ORPHA:352540
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia ORPHA:95232
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemia, Hypophosphatemia, Hypocalcemic seizures ORPHA:289157
Abdominal Obesity-Metabolic Syndrome 3
Abdominal obesity, Truncal obesity OMIM:615812
Reynolds Syndrome
Calcinosis, Hyperbilirubinemia OMIM:613471
Graft Versus Host Disease
Hyperbilirubinemia ORPHA:39812
Autoimmune Hepatitis
Increased total bilirubin ORPHA:2137
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Increased body weight ORPHA:276608
Hepatocellular Carcinoma
Hypokalemia, Hyponatremia, Hypercalcemia, Hyperbilirubinemia, Hypoalbuminemia ORPHA:88673
Fanconi-Bickel Syndrome
Hypophosphatemia, Hypertriglyceridemia ORPHA:2088
Myopathy With Extrapyramidal Signs
Hyperlysinemia, Hyperactivity, Hypervalinemia, Elevated circulating creatine kinase concentration... OMIM:615673
Hereditary Fructose Intolerance
Hypermagnesemia, Hypophosphatemia, Hyperuricemia ORPHA:469
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased body weight, Abdominal obesity OMIM:615954
Leptin Receptor Deficiency
Obesity, Hypergonadotropic hypogonadism OMIM:614963
Mirizzi Syndrome
Hyperbilirubinemia ORPHA:521219
Familial Hypocalciuric Hypercalcemia
Hypocalcemic seizures, Hypercalcemia, Infantile hypercalcemia, Hypermagnesemia, Renal hypophospha... ORPHA:405
Alport Syndrome 3, Autosomal Dominant
Hypophosphatemia, Azotemia OMIM:104200
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Conjugated hyperbilirubinemia, Hypoalbuminemia ORPHA:186
Juvenile Nephropathic Cystinosis
Hypokalemia, Hyponatremia, Elevated circulating creatinine concentration, Hypocalcemia, Hypourice... ORPHA:411634
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Unconjugated hyperbilirubinemia, Hyponatremia, Elevated circulating creatinine conce... ORPHA:90038
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder OMIM:618504
Opsismodysplasia
Hypophosphatemia OMIM:258480
Parenteral Nutrition-Associated Cholestasis
Abnormal circulating fatty-acid concentration, Hyperlipidemia, Conjugated hyperbilirubinemia ORPHA:567983
Citrullinemia Type Ii
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hyperactivity, Elevated plasma citrulline,... ORPHA:247585
Primary Fanconi Renotubular Syndrome
Hypokalemia, Hyperuricosuria, Bicarbonaturia, Hypophosphatemic rickets, Decreased plasma carnitin... ORPHA:3337
Senior-Boichis Syndrome
Increased total bilirubin, Attention deficit hyperactivity disorder ORPHA:84081
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Hyperbilirubinemia ORPHA:163979
Dent Disease 1
Hypophosphatemia OMIM:300009
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypogonadotropic hypogonadism, Primary amenorrhea, Obesity, Decreased fertility, Hypoplasia of th... ORPHA:2235
Caroli Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia ORPHA:480520
Infantile Nephropathic Cystinosis
Abnormal blood ion concentration, Hypokalemia, Hypophosphatemia ORPHA:411629
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301013
Lathosterolosis
Abnormal circulating cholesterol concentration, Hyperbilirubinemia OMIM:607330
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Mildly elevated creatine kinase, ... ORPHA:79102
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Hyperbilirubinemia ORPHA:562639
Biliary Malformation With Renal Tubular Insufficiency
Conjugated hyperbilirubinemia OMIM:210550
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hyperbilirubinemia ORPHA:464321
Wilson Disease
Abnormality of the menstrual cycle, Failure to thrive, Weight loss, Increased body weight ORPHA:905
Hereditary Cryohydrocytosis With Reduced Stomatin
Conjugated hyperbilirubinemia ORPHA:168577
Caroli Disease
Conjugated hyperbilirubinemia ORPHA:53035
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Large for gestational age, Small for gestational age, Overgrowth ORPHA:254534
Pearson Marrow-Pancreas Syndrome
Hyperbilirubinemia OMIM:557000
Raine Syndrome
Hypophosphatemia OMIM:259775
Hypothyroidism, Congenital, Nongoitrous, 2
Hyperbilirubinemia OMIM:218700
Isolated Biliary Atresia
Conjugated hyperbilirubinemia ORPHA:30391
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hyperactivity, Hyperbilirubinemia, Attention deficit hyperactivity disorder OMIM:619475
Cranioectodermal Dysplasia 2
Hyperbilirubinemia OMIM:613610
Fibrous Dysplasia Of Bone
Hypophosphatemia, Hypercalcemia ORPHA:249
X-Linked Creatine Transporter Deficiency
Hyperactivity, Abnormal circulating creatine concentration ORPHA:52503
Aromatase Deficiency
Primary amenorrhea, Obesity, Hypergonadotropic hypogonadism, Eunuchoid habitus, Male infertility,... ORPHA:91
Mccune-Albright Syndrome
Hypophosphatemia ORPHA:562
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Obesity, Streak ovary OMIM:194072
Dent Disease
Elevated circulating creatine kinase concentration, Renal hypophosphatemia, Hyperuricosuria ORPHA:1652
Hyperparathyroidism-Jaw Tumor Syndrome
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:99880
X-Linked Intellectual Disability, Nascimento Type
Neonatal hyperbilirubinemia ORPHA:163956
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Conjugated hyperbilirubinemia OMIM:208500
Smith-Magenis Syndrome
Increased body weight OMIM:182290
Parathyroid Carcinoma
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:143
Pearson Syndrome
Hypokalemia, Hypocalcemia, Hypophosphatemia, Hypomagnesemia, Hyperalaninemia ORPHA:699
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Unconjugated hyperbilirubinemia OMIM:618278
Yellow Fever
Elevated circulating creatine kinase concentration, Hyperbilirubinemia, Elevated circulating crea... ORPHA:99829
Argininemia
Hyperactivity, Hyperargininemia, Hyperammonemia OMIM:207800
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypocalcemia, Unconjugated hyperbilirubinemia, Hypoalbuminemia OMIM:613658
Oculocerebrorenal Syndrome Of Lowe
Hypokalemia, Hyponatremia, Hypercholesterolemia, Hypoammonemia, Hypophosphatemia, Attention defic... ORPHA:534
Degcags Syndrome
Hyperbilirubinemia OMIM:619488
Congenital Erythropoietic Porphyria
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Abnormal circulating porphyrin concen... ORPHA:79277
Purine Nucleoside Phosphorylase Deficiency
Hyperactivity, Hypouricemia ORPHA:760
Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Increased body weight ORPHA:263455
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Cystinosis, Nephropathic
Hypokalemia, Hyponatremia, Hypophosphatemic rickets, Decreased plasma carnitine, Hypophosphatemia OMIM:219800
Hardikar Syndrome
Hyperbilirubinemia OMIM:301068
Autosomal Recessive Hypophosphatemic Rickets
Renal hypophosphatemia, Hypophosphatemic rickets ORPHA:289176
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity ORPHA:85327
Magel2-Related Prader-Willi-Like Syndrome
Infertility, Primary amenorrhea, Failure to thrive, Abdominal obesity, Increased body weight, Hyp... ORPHA:398069
Paroxysmal Nocturnal Hemoglobinuria
Reduced haptoglobin level, Decreased serum iron, Unconjugated hyperbilirubinemia, Increased blood... ORPHA:447
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased body weight OMIM:615830
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Abnormal libido, Irregular menstruation, Increased body weight, Abdominal obesity ORPHA:189427
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Elevated circulating creatinine concentration, Hype... OMIM:619534
Adrenocortical Carcinoma
Abnormality of reproductive system physiology, Weight loss, Increased body weight ORPHA:1501
Autosomal Recessive Malignant Osteopetrosis
Hypocalcemia, Hypophosphatemia ORPHA:667
Sotos Syndrome
Tall stature, Increased body weight, Overgrowth OMIM:117550
Insulinoma
Increased body weight ORPHA:97279
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Irregular menstruation, Dysmenorrhea, Failure to thrive, Increased body weight, Oligomenorrhea ORPHA:264580
X-Linked Hypophosphatemia
Hypophosphatemia ORPHA:89936
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Irregular menstruation, Increased body weight, Oligomenorrhea, Dysmenorrhea ORPHA:79240
Hypophosphatemic Rickets
Hypophosphatemia, Hypercalcemia ORPHA:437
Primary Pigmented Nodular Adrenocortical Disease
Abnormal libido, Irregular menstruation, Increased body weight, Abdominal obesity ORPHA:189439
Congenital Disorder Of Glycosylation, Type Iim
Neonatal hyperbilirubinemia OMIM:300896
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Cushing Disease
Amenorrhea, Abnormal libido, Truncal obesity, Secondary amenorrhea, Abdominal obesity, Increased ... ORPHA:96253
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Weight loss, Increased body weight, Decreased body weight ORPHA:2298
Blepharophimosis-Impaired Intellectual Development Syndrome
Attention deficit hyperactivity disorder OMIM:619293
Hellp Syndrome
Increased body weight ORPHA:244242
Cushing Syndrome Due To Ectopic Acth Secretion
Abdominal obesity, Amenorrhea, Abnormal libido, Truncal obesity, Secondary amenorrhea, Increased ... ORPHA:99889
Carney Complex
Decreased fertility in males, Oligospermia, Abnormal sperm motility, Abdominal obesity, Tall stat... ORPHA:1359
Nicolaides-Baraitser Syndrome
Failure to thrive OMIM:601358
Nicolaides-Baraitser Syndrome
ORPHA:3051
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
ORPHA:2728

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 Smarca2

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 Smarca2.

No publications found that use IMPC mice or data for Smarca2.

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
Smarca2em1(IMPC)J Exon Deletion Mice
Smarca2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Smarca2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

The IMPC Newsletter

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

Subscribe to newsletter