Gene: 2210408I21Rik MGI:1919621

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Gene Summary

Name:
RIKEN cDNA 2210408I21 gene
Synonyms:
N/A

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
impaired glucose tolerance 2210408I21Riktm1b(EUCOMM)Wtsi HOM Early adult 2.74×10-05
increased circulating triglyceride level 2210408I21Riktm1b(EUCOMM)Wtsi HOM   Early adult 6.57×10-08
small superior vagus ganglion 2210408I21Riktm1b(EUCOMM)Wtsi HOM Early adult 0.00
abnormal kidney morphology 2210408I21Riktm1b(EUCOMM)Wtsi HOM Early adult 0.00
decreased lean body mass 2210408I21Riktm1b(EUCOMM)Wtsi HOM Early adult 1.90×10-08
decreased bone mineral density 2210408I21Riktm1b(EUCOMM)Wtsi HOM Early adult 3.95×10-17
hydrometra 2210408I21Riktm1b(EUCOMM)Wtsi HOM Early adult 0.00
decreased bone mineral content 2210408I21Riktm1b(EUCOMM)Wtsi HOM Early adult 6.68×10-08
increased total body fat amount 2210408I21Riktm1b(EUCOMM)Wtsi HOM   Early adult 6.22×10-09

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

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

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood 0.0%
bone marrow 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cecum 5.73% (22 of 384)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
chest bone Unavailable
colon 15.71% (22 of 140)
diaphragm 0.0%
duodenum 3.57% (5 of 140)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.71% (1 of 140)
heart 0.33% (2 of 598)
hindlimb 0.0%
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
ileum 14.29% (20 of 140)
jejunum 8.57% (12 of 140)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.31% (1 of 323)
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
stomach pyloric region 0.0%
striatum 0.5% (3 of 598)
sublingual gland 0.0%
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
tongue 3.57% (5 of 140)
trachea 0.5% (3 of 598)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vagina 0.0%
vas deferens 4.56% (18 of 395)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Adult LacZ

LacZ Images Section

64 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by 2210408I21Rik 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 2210408I21Rik by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Polydactyly, Postaxial, Type A10
OMIM:618498

The table below shows human diseases predicted to be associated to 2210408I21Rik by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Hyperlipidemia, Gout, Osteoporosis, Impaired glucose tolerance, Hypertriglyc... OMIM:610947
Glycogen Storage Disease Vi
Hyperlipidemia, Hypoglycemia, Hypertriglyceridemia, Hypercholesterolemia, Failure to thrive in in... OMIM:232700
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Increased LDL cholesterol concentration, Oligospermia, Decreased HDL c... OMIM:615703
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Childhood-onset truncal obesit... ORPHA:71529
Plin1-Related Familial Partial Lipodystrophy
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Lipoatrophy, Loss of gluteal subcutaneous ... ORPHA:280356
Lipodystrophy, Familial Partial, Type 1
Increased adipose tissue around the neck, Loss of gluteal subcutaneous adipose tissue, Increased ... OMIM:608600
Lipodystrophy, Familial Partial, Type 3
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Type II diabetes mellitus, Insulin resista... OMIM:604367
Lipase Deficiency, Combined
Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus OMIM:246650
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hypocalcemia, Generalized lipodystrophy, Hypertriglyceridemi... OMIM:612526
Lipe-Related Familial Partial Lipodystrophy
Increased adipose tissue around the neck, Hyperlipidemia, Insulin resistance, Loss of gluteal sub... ORPHA:435660
Temple Syndrome
Flexion contracture, Small for gestational age, Maturity-onset diabetes of the young, Truncal obe... OMIM:616222
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance OMIM:144600
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance OMIM:145750
Lipodystrophy, Familial Partial, Type 4
Lipoatrophy, Hypertriglyceridemia, Lipodystrophy, Insulin-resistant diabetes mellitus, Insulin re... OMIM:613877
Akt2-Related Familial Partial Lipodystrophy
Hyperlipidemia, Insulin resistance, Hypertriglyceridemia, Lipodystrophy, Increased intraabdominal... ORPHA:79085
Congenital Generalized Lipodystrophy
Failure to thrive, Precocious puberty in females, Bone cyst, Hyperinsulinemia, Insulin resistance... ORPHA:528
Fish-Eye Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased VLDL cholesterol concent... OMIM:136120
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Failure to thrive in infancy OMIM:619175
Mandibuloacral Dysplasia
Increased adipose tissue around the neck, Glucose intolerance, Hyperinsulinemia, Lipoatrophy, Ins... ORPHA:2457
Glycerol Kinase Deficiency
Small for gestational age, Increased urinary glycerol, Osteoporosis, Pathologic fracture, Hypogly... OMIM:307030
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Flexion contracture, Osteoporosis, Hypertriglyceridemia, Lipodystrophy, Hypogonadism, Insulin res... OMIM:615381
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu... OMIM:616516
Lipodystrophy, Familial Partial, Type 2
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperinsulinemia, ... OMIM:151660
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Cidec-Related Familial Partial Lipodystrophy
Hyperlipidemia, Loss of gluteal subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy,... ORPHA:435651
Neutral Lipid Storage Disease With Myopathy
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Diabetes mellitus OMIM:610717
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Failure to thrive, Hypophosphatemia, Renal tubular acidosis, Osteopen... ORPHA:2088
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Hyperlipidemia, Hypertriglyceridemia, Insulin resistance, Obesity OMIM:617885
Estrogen Resistance
Glucose intolerance, Hyperinsulinemia, Hypoplasia of the uterus, Osteopenia, Impaired glucose tol... OMIM:615363
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Insulin-resistant diabetes mellitus ORPHA:436182
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Lecithin:Cholesterol Acyltransferase Deficiency
Renal insufficiency, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Proteinuria OMIM:245900
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Abnormal circulating lipid concentration, Insulin resistance, Generalized lipod... ORPHA:79086
Citrullinemia, Type Ii, Neonatal-Onset
Failure to thrive, Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemi... OMIM:605814
Obesity Due To Congenital Leptin Deficiency
Hypoplasia of the ovary, Hyperinsulinemia, Hypergonadotropic hypogonadism, Orthostatic hypotensio... ORPHA:66628
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Gen... ORPHA:363400
Pparg-Related Familial Partial Lipodystrophy
Lipoatrophy, Insulin resistance, Maternal diabetes, Loss of facial adipose tissue, Hypertriglycer... ORPHA:79083
Obesity Due To Leptin Receptor Gene Deficiency
Hypoplasia of the ovary, Hyperinsulinemia, Hypergonadotropic hypogonadism, Orthostatic hypotensio... ORPHA:179494
Familial Partial Lipodystrophy, Dunnigan Type
Lipoatrophy, Cellulitis, Insulin resistance, Hypertriglyceridemia, Lipodystrophy, Diabetes mellit... ORPHA:2348
Nephrotic Syndrome, Type 14
Nephrotic syndrome, Diffuse mesangial sclerosis, Micropenis, Focal segmental glomerulosclerosis, ... OMIM:617575
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Increased C-peptide level, Lipodystrophy, Diabetic ketoacidosis OMIM:615238
Glycogen Storage Disease Ixa1
Hypoglycemia, Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia OMIM:306000
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia OMIM:615924
Abdominal Obesity-Metabolic Syndrome 4
Type II diabetes mellitus, Increased LDL cholesterol concentration, Elevated hemoglobin A1c, Decr... OMIM:618620
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:607616
Lipodystrophy, Congenital Generalized, Type 1
Nephrolithiasis, Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hype... OMIM:608594
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Lipoatrophy, Insul... ORPHA:280365
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia OMIM:614480
Lipodystrophy, Congenital Generalized, Type 2
Nephrolithiasis, Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hype... OMIM:269700
Werner Syndrome
Reduced bone mineral density, Elevated hemoglobin A1c, Osteoporosis, Hypertriglyceridemia, Hypogo... OMIM:277700
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
Lipodystrophy, Familial Partial, Type 6
Abdominal obesity, Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating... OMIM:615980
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Renal tubular acidosis, Ketotic hypoglycemia, Increased body weight, Elevated circulating creatin... ORPHA:79240
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal urine output, Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Foc... ORPHA:567548
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Micropenis, Osteopenia, Hypogonadotropic hypogonadism, Decreased testic... OMIM:614837
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Failure to thrive, Hyperlipidemia, Osteopenia, Osteoporosis, Hypoglycemia, Proteinuria ORPHA:369
Lcat Deficiency
Decreased glomerular filtration rate, Decreased circulating apolipoprotein AI concentration, Decr... ORPHA:650
Nephrotic Syndrome, Type 2
Hyperlipidemia, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbumine... OMIM:600995
Lipodystrophy, Congenital Generalized, Type 4
Failure to thrive, Hyperinsulinemia, Flexion contracture, Osteopenia, Elevated circulating creati... OMIM:613327
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Joint stiffness, Decreased cervical spine flexion due to contractures of posterior cervical muscl... ORPHA:98855
H Syndrome
Recurrent fractures, Micropenis, Enlarged kidney, Camptodactyly, Hypertriglyceridemia, Lipodystro... ORPHA:168569
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:603552
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Renal tubular acidosis, Elevated circulating creatine kinase concentration, My... ORPHA:264580
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperlipidemia, Hyperinsulinemia, Flexion contracture, Loss of truncal subcu... OMIM:608612
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Aromatase Deficiency
Delayed epiphyseal ossification, Ambiguous genitalia, female, Hyperlipidemia, Type II diabetes me... ORPHA:91
Alstrom Syndrome
Hyperinsulinemia, Nephritis, Hypergonadotropic hypogonadism, Decreased HDL cholesterol concentrat... OMIM:203800
X-Linked Emery-Dreifuss Muscular Dystrophy
Joint stiffness, Decreased cervical spine flexion due to contractures of posterior cervical muscl... ORPHA:98863
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Joint stiffness, Decreased cervical spine flexion due to contractures of posterior cervical muscl... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Joint stiffness, Decreased cervical spine flexion due to contractures of posterior cervical muscl... ORPHA:261
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:300635
Mandibuloacral Dysplasia With Type A Lipodystrophy
Reduced subcutaneous adipose tissue, Joint stiffness, Increased adipose tissue around the neck, H... OMIM:248370
Dysbetalipoproteinemia
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Gout, Hypertrig... ORPHA:412
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
External genital hypoplasia, Hypospadias, Ovotestis, Ambiguous genitalia, Hypertriglyceridemia, C... OMIM:610644
Xp21 Deletion Syndrome
Reduced bone mineral density, Hypogonadotropic hypogonadism, Elevated circulating creatine kinase... ORPHA:261476
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:613101
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... ORPHA:158057
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Nephrolithiasis, Failure to thrive, Hyperlipidemia, Osteopenia, Osteoporosis, Gout, Enlarged kidn... ORPHA:79259
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia, Joint hypermobility OMIM:619013
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbuminemia, Stage 5 chronic... OMIM:603278
Hypobetalipoproteinemia, Familial, 1
Steatorrhea, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypocholesterolemia, ... OMIM:615558
Smith-Magenis Syndrome
Hypertriglyceridemia, Increased body weight, Hypercholesterolemia OMIM:182290
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Decreased HDL cholesterol concentration, D... ORPHA:247585
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Smith-Magenis Syndrome
Joint stiffness, Precocious puberty, Abnormality of the ureter, Hypertriglyceridemia, Hypercholes... ORPHA:819
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Abnormality of the Leydig cells, Increased circulating reni... ORPHA:168558
Glycogen Storage Disease Ixc
Hypoglycemia, Hypertriglyceridemia, Fasting hypoglycemia OMIM:613027
Proteasome-Associated Autoinflammatory Syndrome 3
Failure to thrive, Flexion contracture, Arthritis, Hypertriglyceridemia, Lipodystrophy, Panniculitis OMIM:617591
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Abnormality of the Leydig cells, Increased circulating reni... ORPHA:289548
Primary Pigmented Nodular Adrenocortical Disease
Nephrolithiasis, Paradoxical increased cortisol secretion on dexamethasone suppression test, Gluc... ORPHA:189439
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypermethioninemia, Abnormal circulating arginine concentration, Abnormal circulating glutamine c... ORPHA:247598
Seckel Syndrome 10
Glucose intolerance, Elevated hemoglobin A1c, Glycosuria, Impaired glucose tolerance, Hypertrigly... OMIM:617253
Citrullinemia, Type Ii, Adult-Onset
Hyperammonemia, Hyperargininemia, Argininosuccinic aciduria, Hypertriglyceridemia, Elevated plasm... OMIM:603471
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hypertriglyceridemia, Panniculitis OMIM:618398
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Failure to thrive, Ketonuria, Hyperlipidemia, Ketotic hypoglycemia, G... ORPHA:2089
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia OMIM:177000
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Decreased glomerular filtration rate, Steatorrhea, ... ORPHA:470
Atypical Werner Syndrome
Hyperinsulinemia, Ovarian neoplasm, Glycosuria, Osteolytic defects of the phalanges of the hand, ... ORPHA:79474
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Failure to thrive, Hypoproteinemia, Increased LDL c... OMIM:267700
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Failure to thrive, Renal tubular acidosis, Myoglobinuria, Elevated circulating creatine kinase co... ORPHA:370
Mody
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, El... ORPHA:552
Classical-Like Ehlers-Danlos Syndrome Type 2
Cellulitis, Inguinal hernia, Osteopenia, Widened atrophic scar, Hypertriglyceridemia, Ventral her... ORPHA:536532
Lipodystrophy, Familial Partial, Type 7
Reduced subcutaneous adipose tissue, Glucose intolerance, Failure to thrive, Small for gestationa... OMIM:606721
Estrogen Resistance Syndrome
Delayed epiphyseal ossification, Glucose intolerance, Hypoplasia of the uterus, Hyperinsulinemia,... ORPHA:785
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Abnormal circulating fatty-acid concentration, Glycosuria, Proteinuria, Polycys... ORPHA:2298
Partial Androgen Insensitivity Syndrome
Urogenital sinus anomaly, Aplasia of the ovary, Blind vagina, Micropenis, Bifid scrotum, Hypospad... ORPHA:90797
Hyperlipidemia, Familial Combined, 3
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... OMIM:144250
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal vagina morphology, Hypoplasia of the uterus, Gonadal dysgenesis with female appearance, ... ORPHA:168563
Cholestasis-Lymphedema Syndrome
Abnormality of urine homeostasis, Hyperlipidemia, Multiple lipomas, Reduced bone mineral density ORPHA:1414
Renal Cysts And Diabetes Syndrome
Glycosuria, Gout, Elevated circulating creatinine concentration, Proteinuria, Hyperuricemia, Stag... OMIM:137920
Gaisböck Syndrome
Hyperproteinemia, Gout, Increased circulating renin level, Overweight, Hypernatriuria, Hypertrigl... ORPHA:90041
Leydig Cell Hypoplasia
Cryptorchidism, Abnormal external genitalia, Micropenis, Hypergonadotropic hypogonadism, Hypospad... ORPHA:755
Familial Chylomicronemia Syndrome
Failure to thrive, Hyperlipidemia, Decreased body weight, Hypertriglyceridemia, Increased circula... ORPHA:444490
46,Xy Sex Reversal 3
Sex reversal, Hypoplasia of the uterus, Gonadal dysgenesis, Ambiguous genitalia, Penoscrotal hypo... OMIM:612965
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Precocious puberty, Congenital megaureter, Craniosynostosis, Osteopenia, Hypercalciuria, Hypertri... ORPHA:369837
Lysosomal Acid Lipase Deficiency
Failure to thrive, Increased LDL cholesterol concentration, Steatorrhea, Decreased HDL cholestero... OMIM:278000
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Nephrolithiasis, Paradoxical increased cortisol secretion on dexamethasone suppression test, Gluc... ORPHA:189427
Primary Lipodystrophy
Hyperlipidemia, Lipoatrophy, Type II diabetes mellitus, Insulin resistance, Lipodystrophy, Polycy... ORPHA:90970
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Abnormality of central somatosensory evoked potentials, ... OMIM:277460
Hyperlipoproteinemia, Type Id
Failure to thrive, Hyperlipoproteinemia, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:615947
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Gonadal dysgenesis with female appearance, male, Vanishing testis, Abno... OMIM:273250
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... ORPHA:158061
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia, Hyperuricemia ORPHA:364
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Obesity, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:209902
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... ORPHA:2138
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypoplasia of the uterus, Hypoplasia of the ovary, Cryptorchidism, Eunuchoid habitus, Micropenis,... ORPHA:432
Glycogen Storage Disease Iii
Hypoglycemia, Hyperlipidemia, Elevated circulating creatine kinase concentration OMIM:232400
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Small for gestational age, Hypospadias, Abn... ORPHA:1916
Mandibuloacral Dysplasia Progeroid Syndrome
Joint stiffness, Glucose intolerance, Flexion contracture, Osteopenia, Elevated hemoglobin A1c, G... OMIM:619127
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol... OMIM:207750
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Unilateral renal agenesis, Uterus didelphys, Septate vagina, Polycystic kidney dysp... ORPHA:2237
Glycogen Storage Disease Ia
Nephrolithiasis, Hyperlipidemia, Decreased glomerular filtration rate, Osteoporosis, Gout, Enlarg... OMIM:232200
Nephrotic Syndrome, Type 1
Congenital nephrotic syndrome, Hyperlipidemia, Diffuse mesangial sclerosis, Hypoproteinemia, Smal... OMIM:256300
Diarrhea 10, Protein-Losing Enteropathy Type
Hypomagnesemia, Hypocalcemia, Polyuria, Hypertriglyceridemia, Hypoalbuminemia, Hyponatremia, Cryp... OMIM:618183
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Chronic kidney disease, Nephrotic syndrome, Proximal renal tubular acidosis, Uterus didelphys, Se... OMIM:146255
Proteasome-Associated Autoinflammatory Syndrome 1
Failure to thrive, Flexion contracture of finger, Elevated circulating C-reactive protein concent... OMIM:256040
46,Xy Sex Reversal 4
Sex reversal, Hypoplasia of the uterus, Increased blood urea nitrogen, Hypergonadotropic hypogona... OMIM:154230
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Failure to thrive, Hypoproteinemia, Hypertriglyceri... OMIM:603553
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Abnormal ren... ORPHA:540
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney, Aplas... OMIM:266810
Perrault Syndrome 4
Hypoplasia of the uterus, Hypoplasia of the ovary, Bicornuate uterus, Osteoporosis, Obesity OMIM:615300
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Testicular neoplasm, ... ORPHA:99429
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Failure to thrive, Hypoplasia of the uterus, Ambiguous genitalia, male, Micropenis, Hypergonadotr... ORPHA:90796
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Failure to thrive, Precocious puberty in females, Blind vagina, Hypokalemia, Ambiguous genitalia,... ORPHA:90793
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the uterus, Aplasia/Hypoplasia of th... OMIM:158330
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Insulin resistance, Acroosteolysis of distal phalanges (feet), Calcinosis, Genera... ORPHA:90154
Mayer-Rokitansky-Küster-Hauser Syndrome
Unilateral renal agenesis, Hypoplasia of the vagina, Horseshoe kidney, Ectopic kidney, Aplasia of... ORPHA:3109
Congenital Analbuminemia
Hyperlipidemia, Hypoproteinemia, Small for gestational age, Increased alpha-globulin, Lipodystrop... ORPHA:86816
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Hyperlipidemia, Hyperinsulinemia, Streak ovary, Micropenis, Osteopenia,... ORPHA:3464
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:619802
Hyperlipoproteinemia, Type I
Lactescent serum, Increased circulating chylomicron concentration, Hyperlipidemia, Hypercholester... OMIM:238600
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Failure to thrive, Hypoglycemia, Hypertriglyceridemia, Joint hypermobility, Neonatal hypoglycemia... OMIM:619418
Lysosomal Acid Lipase Deficiency
Failure to thrive, Steatorrhea, Cachexia, Abnormal urine potassium concentration, Hypernatriuria,... ORPHA:275761
Methanol Poisoning
Hyperlipidemia, Type I diabetes mellitus, Type II diabetes mellitus ORPHA:31825
Glycogen Storage Disease Ib
Nephrolithiasis, Hyperlipidemia, Decreased glomerular filtration rate, Osteoporosis, Gout, Enlarg... OMIM:232220
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:619313
Familial Multiple Lipomatosis
Insulin resistance, Lipodystrophy, Hyperlipidemia, Increased adipose tissue ORPHA:199276
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Mildly elevated creatine kinase OMIM:604484
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Osteopenia, Optic atrophy, Slender build, Hypogonadotropic h... ORPHA:3455
19P13.12 Microdeletion Syndrome
Precocious puberty, Hyperlipidemia, Craniosynostosis, Hypospadias, Arthrogryposis multiplex conge... ORPHA:254346
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia, Flexion contracture, Insulin resistance, Acroosteolysis of distal phalanges (feet... ORPHA:90153
Chronic Visceral Acid Sphingomyelinase Deficiency
Hyperlipidemia, Increased LDL cholesterol concentration, Abnormal circulating lipid concentration... ORPHA:77293
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Conjugated hyperbilirubinemia OMIM:214900
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hypoketotic hypoglycemia, Myogl... ORPHA:157
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Lipoatrophy, Hypercholesterolemia ORPHA:363618
Testicular Agenesis
Urogenital sinus anomaly, Hypoplasia of the uterus, Absent testis, Absent external genitalia, Abn... ORPHA:325124
Neutral Lipid Storage Disease With Ichthyosis
Abnormal circulating creatine kinase concentration, Hypertriglyceridemia ORPHA:98907
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the uterus, Bifid scrotum, Micropenis, Hypoplasia of the vagina, Ovot... OMIM:278850
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Ambiguous genitalia, female, Abnormal external genitalia, Decreased circulating cortisol level, L... ORPHA:90794
46,Xy Sex Reversal 7
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Hypoplasia of the... OMIM:233420
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hyperammonemia, Hypoketotic hyp... ORPHA:228308
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the uterus, Ambiguous genitalia, female, Hypokalemia, Hypoplasia of the vagina, Ele... OMIM:202010
Lumbar Syndrome
Bifid scrotum, Micropenis, Hypospadias, Bifid uterus, Bladder exstrophy, Ambiguous genitalia, Cry... ORPHA:83628
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Decreased nerve conduction velocity, Hypoproteinemi... ORPHA:167
Aapoaiv Amyloidosis
Chronic kidney disease, Hyperlipidemia, Abnormal renal medulla morphology, Elevated circulating c... ORPHA:439232
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Urethral atresia, Absent external genitalia, Inguinal hernia, Aplasia of the uterus, Hydronephros... OMIM:271520
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Hyperlipidemia, Micropenis, Hypergonadotropic hypogonadism, Hypogonadot... OMIM:241080
Alagille Syndrome 1
Failure to thrive, Renal tubular acidosis, Focal segmental glomerulosclerosis, Hypertriglyceridem... OMIM:118450
Oeis Complex
Labial hypoplasia, Vesicovaginal fistula, Ambiguous genitalia, female, Ambiguous genitalia, male,... OMIM:258040
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Failure to thrive, Lipoatrophy, Flexion contracture, Small f... OMIM:264090
Tangier Disease
Facial diplegia, Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
Neutral Lipid Storage Myopathy
Abnormal circulating creatine kinase concentration, Hypertriglyceridemia, Diabetes mellitus ORPHA:98908
Townes-Brocks Syndrome 2
Hypospadias, Bifid uterus, Rectovaginal fistula, Crossed fused renal ectopia OMIM:617466
Combined Deficiency Of Factor V And Factor Viii
Joint hemorrhage, Hyperlipidemia, Hematuria, Hyperuricemia ORPHA:35909
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperproteinemia ORPHA:158048
Meckel Syndrome 14
Aplasia of the uterus, Ambiguous genitalia, Decreased calvarial ossification, Polycystic kidney d... OMIM:619879
Glycogen Storage Disease Ic
Hyperlipidemia, Decreased glomerular filtration rate, Hematuria, Gout, Focal segmental glomerulos... OMIM:232240
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Ovarian cyst, Multicystic kidney dysplasia, Renal cyst, Renal hypoplas... OMIM:614527
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Inguinal hernia, Unilateral renal agenesis, Optic nerve hypoplasia, Joint hypermobility, Aplasia ... ORPHA:457284
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hydrocele testis, Chronic kidney disease, Hyperlipidemia, Macroscopic hematuria, Focal segmental ... ORPHA:567546
Immunodeficiency 87 And Autoimmunity
Hypertriglyceridemia, Hypokalemia, Elevated circulating C-reactive protein concentration, Small f... OMIM:619573
Exstrophy-Epispadias Complex
Cystocele, Bifid scrotum, Inguinal hernia, Abnormality of the ureter, Bifid uterus, Bladder exstr... ORPHA:322
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Fused cervical vertebrae, Horseshoe kidney ORPHA:3320
Alström Syndrome
Hyperinsulinemia, Hypergonadotropic hypogonadism, Hyoplasia of the Leydig cells, Testicular fibro... ORPHA:64
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus, Omphalocele ORPHA:2736
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Increased blood urea nitrogen, Elevated circulating creatinine concentration, Acu... OMIM:235400
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Hypertriglyceridemia, Nephritis ORPHA:2442
Pontocerebellar Hypoplasia Type 7
Micropenis, Gonadal dysgenesis, Absent penis, Optic atrophy, Ambiguous genitalia, Abnormal scrota... ORPHA:284339
Fabry Disease
Nephrotic syndrome, Hyperlipidemia, Reduced bone mineral density, Abnormal circulating lipid conc... ORPHA:324
Turner Syndrome Due To Structural X Chromosome Anomalies
Glucose intolerance, Hyperlipidemia, Type II diabetes mellitus, Hyperinsulinemia, Reduced bone mi... ORPHA:99413
Turner Syndrome
Glucose intolerance, Hyperlipidemia, Type II diabetes mellitus, Hyperinsulinemia, Reduced bone mi... ORPHA:881
Mosaic Monosomy X
Glucose intolerance, Hyperlipidemia, Type II diabetes mellitus, Hyperinsulinemia, Reduced bone mi... ORPHA:99228
Monosomy X
Glucose intolerance, Hyperlipidemia, Type II diabetes mellitus, Hyperinsulinemia, Reduced bone mi... ORPHA:99226
Ehlers-Danlos Syndrome, Vascular Type
Uterine prolapse, Cystocele, Finger joint hypermobility, Uterine rupture, Foot acroosteolysis, In... OMIM:130050
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, Bifid uterus, Craniosynostosis ORPHA:1521
Phocomelia, Schinzel Type
Aplasia of the uterus, Humeroradial synostosis, Cryptorchidism, Hypoplasia of penis ORPHA:2879
Townes-Brocks Syndrome 1
Bifid scrotum, Small for gestational age, Hypospadias, Bifid uterus, Multicystic kidney dysplasia... OMIM:107480
Cardiac-Urogenital Syndrome
Congenital diaphragmatic hernia, Micropenis, Tracheomalacia, Bifid scrotum, Unilateral cryptorchi... OMIM:618280
Fanconi Anemia, Complementation Group L
Unilateral renal agenesis, Aplasia of the uterus, Renal hypoplasia, Micropenis OMIM:614083
Thrombocytopenia-Absent Radius Syndrome
Carpal synostosis, Ureteral duplication, Fused cervical vertebrae, Horseshoe kidney, Aplasia of t... OMIM:274000
Parenteral Nutrition-Associated Cholestasis
Small for gestational age, Hyperlipidemia, Abnormal circulating fatty-acid concentration, Conjuga... ORPHA:567983
Loeys-Dietz Syndrome
Uterine rupture, Craniosynostosis, Camptodactyly of finger, Atypical scarring of skin, Joint hype... ORPHA:60030
Coffin-Siris Syndrome 1
Congenital diaphragmatic hernia, Inguinal hernia, Hypospadias, Hydroureter, Renal hypoplasia, Joi... OMIM:135900
Wolf-Hirschhorn Syndrome
Failure to thrive, Abnormal sternal ossification, Precocious puberty, Small for gestational age, ... OMIM:194190
Okamoto Syndrome
Bifid uterus, Ureteropelvic junction obstruction, Hydronephrosis, Joint hypermobility, Omphalocel... ORPHA:2729
Triglyceride Deposit Cardiomyovasculopathy
Hyperlipidemia, Elevated circulating creatine kinase concentration, Diabetes mellitus ORPHA:565612
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Anteriorly displaced genitalia, Elbow ankylosis, Hypospadias, Decreased calvarial ossification, E... OMIM:276820
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyperlipidemia, Abnormal autonomic nervous system physiology, Hyponatremia, Obesity, Enuresis, Hy... ORPHA:293987
Neu-Laxova Syndrome 1
Yellow subcutaneous tissue covered by thin, scaly skin, Joint contracture of the hand, Bifid uter... OMIM:256520
Hydrolethalus Syndrome 1
Abnormal vagina morphology, Hypospadias, Bifid uterus, Omphalocele, Hydronephrosis OMIM:236680
Vascular Ehlers-Danlos Syndrome
Bladder diverticulum, Uterine prolapse, Hypokalemia, Cystocele, Uterine rupture, Inguinal hernia,... ORPHA:286
Limb-Mammary Syndrome
Aplasia of the uterus, Aplasia of the ovary ORPHA:69085
Norrie Disease
Failure to thrive, Uterine rupture, Cachexia, Optic atrophy, Diabetes mellitus, Cryptorchidism ORPHA:649
Pallister-Killian Syndrome
Labial hypoplasia, Congenital diaphragmatic hernia, Flexion contracture, Inguinal hernia, Hypospa... OMIM:601803
Homozygous Familial Hypercholesterolemia
Optic neuropathy, Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia, ... ORPHA:391665
Polydactyly, Postaxial, Type A10
OMIM:618498

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 2210408I21Rik

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 2210408I21Rik.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Prenatal Detection of Novel Compound Heterozygous Splice Site Variants of the KIAA0825 Gene in a Fetus with Postaxial Polydactyly Type A. Genes (July 2022) 2210408I21Riktm1a(EUCOMM)Wtsi PMC9316509
A Frameshift Variant in KIAA0825 Causes Postaxial Polydactyly. Molecular syndromology (December 2020) 2210408I21Riktm1b(EUCOMM)Wtsi 33776623

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MGI Allele Allele Type Produced
2210408I21Riktm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
2210408I21Riktm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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