Gene Summary

Name:
ring finger protein 10
Synonyms:
N/A

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
absent pinna reflex Rnf10tm1b(KOMP)Wtsi HOM   Early adult 3.54×10-06
abnormal bone structure Rnf10em1(IMPC)J HOM Early adult 4.01×10-05
decreased total body fat amount Rnf10tm1a(KOMP)Wtsi HOM Early adult 3.84×10-06
increased monocyte cell number Rnf10tm1b(KOMP)Wtsi HOM Early adult 5.51×10-05
decreased startle reflex Rnf10em1(IMPC)Mbp HOM Early adult 1.33×10-05
shortened QT interval Rnf10tm1b(KOMP)Wtsi HOM Early adult 6.89×10-05
decreased circulating total protein level Rnf10tm1b(KOMP)Wtsi HOM   Early adult 2.04×10-05
increased heart rate variability Rnf10tm1b(KOMP)Wtsi HOM Early adult 4.58×10-05
increased vertical activity Rnf10em1(IMPC)J HOM Early adult 2.22×10-10
increased leukocyte cell number Rnf10tm1a(KOMP)Wtsi HOM Early adult 4.49×10-05
decreased total body fat amount Rnf10tm1b(KOMP)Wtsi HET Early adult 4.79×10-06
syndactyly Rnf10tm1b(KOMP)Wtsi HET E15.5 0.00
increased circulating sodium level Rnf10tm1b(KOMP)Wtsi HOM   Early adult 1.96×10-06
increased circulating aspartate transaminase level Rnf10em1(IMPC)Mbp HOM Early adult 1.14×10-05
decreased grip strength Rnf10tm1b(KOMP)Wtsi HOM   Early adult 1.70×10-08
decreased bone mineral content Rnf10em1(IMPC)J HOM Late adult 8.83×10-05
increased circulating alanine transaminase level Rnf10em1(IMPC)Mbp HOM Early adult 1.40×10-45
increased vertical activity Rnf10tm1b(KOMP)Wtsi HOM Early adult 2.54×10-06
decreased bone mineral density Rnf10tm1b(KOMP)Wtsi HOM Early adult 3.73×10-06
decreased circulating alkaline phosphatase level Rnf10tm1b(KOMP)Wtsi HOM Early adult 2.66×10-09
decreased mean corpuscular hemoglobin Rnf10em1(IMPC)J HOM Early adult 4.02×10-14
decreased total retina thickness Rnf10tm1b(KOMP)Wtsi HOM Early adult 6.88×10-10
abnormal spleen morphology Rnf10tm1b(KOMP)Wtsi HOM Early adult 0.00
shortened ST segment Rnf10tm1b(KOMP)Wtsi HOM Early adult 1.41×10-05
abnormal freezing behavior Rnf10tm1b(KOMP)Wtsi HOM   Early adult 3.33×10-05
increased circulating creatinine level Rnf10tm1b(KOMP)Wtsi HOM   Early adult 2.82×10-07
decreased mean corpuscular volume Rnf10tm1a(KOMP)Wtsi HOM Early adult 3.76×10-08
enlarged heart Rnf10tm1b(KOMP)Wtsi HET Early adult 0.00
decreased locomotor activity Rnf10tm1b(KOMP)Wtsi HOM   Early adult 4.71×10-06
abnormal tibia morphology Rnf10tm1b(KOMP)Wtsi HOM Early adult 1.90×10-05
increased red blood cell distribution width Rnf10tm1b(KOMP)Wtsi HOM   Early adult 7.93×10-06
decreased fasting circulating glucose level Rnf10tm1b(KOMP)Wtsi HOM Early adult 9.43×10-06
increased bone mineral content Rnf10em1(IMPC)J HOM Early adult 6.76×10-05
abnormal behavior Rnf10tm1b(KOMP)Wtsi HOM Early adult 2.54×10-14
decreased hemoglobin content Rnf10tm1b(KOMP)Wtsi HOM Early adult 3.28×10-06
decreased brain weight Rnf10em1(IMPC)Mbp HOM Early adult 6.03×10-05
microcephaly Rnf10tm1b(KOMP)Wtsi HET E15.5 0.00
limb grasping Rnf10em1(IMPC)J HOM Early adult 5.45×10-05
anophthalmia Rnf10em1(IMPC)Mbp HOM Early adult 0.00
increased lean body mass Rnf10tm1b(KOMP)Wtsi HOM Early adult 2.77×10-05
abnormal auditory brainstem response Rnf10tm1b(KOMP)Wtsi HOM   Early adult 2.26×10-05
decreased spleen weight Rnf10tm1b(KOMP)Wtsi HOM Early adult 1.08×10-05
decreased circulating HDL cholesterol level Rnf10tm1b(KOMP)Wtsi HOM   Early adult 1.43×10-05
increased bone mineral content Rnf10tm1b(KOMP)Wtsi HOM Early adult 3.12×10-05
increased circulating HDL cholesterol level Rnf10tm1b(KOMP)Wtsi HET   Early adult 7.11×10-05
decreased vertical activity Rnf10tm1b(KOMP)Wtsi HOM Early adult 8.09×10-06
preweaning lethality, incomplete penetrance Rnf10tm1b(KOMP)Wtsi HOM   Early adult 0.00
abnormal kidney morphology Rnf10em1(IMPC)Mbp HOM Early adult 0.00
abnormal retina blood vessel morphology Rnf10em1(IMPC)Bay HOM Early adult 8.85×10-06
increased circulating glucose level Rnf10em1(IMPC)Mbp HOM Early adult 2.69×10-05
improved glucose tolerance Rnf10tm1b(KOMP)Wtsi HOM Early adult 9.41×10-05
decreased circulating serum albumin level Rnf10tm1b(KOMP)Wtsi HOM   Early adult 2.14×10-05
decreased prepulse inhibition Rnf10em1(IMPC)Bay HOM Early adult 8.33×10-07
decreased mean corpuscular hemoglobin Rnf10tm1b(KOMP)Wtsi HOM   Early adult 2.94×10-09
decreased total retina thickness Rnf10em1(IMPC)Bay HOM Early adult 1.34×10-05
decreased thigmotaxis Rnf10tm1b(KOMP)Wtsi HOM   Early adult 3.82×10-05
decreased hematocrit Rnf10tm1a(KOMP)Wtsi HOM Early adult 6.22×10-05
convulsive seizures Rnf10tm1b(KOMP)Wtsi HOM Early adult 2.91×10-06
abnormal gait Rnf10tm1b(KOMP)Wtsi HOM   Early adult 4.79×10-06
microcephaly Rnf10tm1b(KOMP)Wtsi HOM E15.5 0.00
decreased body length Rnf10tm1b(KOMP)Wtsi HOM Early adult 2.96×10-05
decreased mean corpuscular volume Rnf10tm1b(KOMP)Wtsi HOM Early adult 1.11×10-05
increased large unstained cell number Rnf10tm1b(KOMP)Wtsi HOM Early adult 5.45×10-09
increased anxiety-related response Rnf10tm1b(KOMP)Wtsi HOM   Early adult 3.77×10-05
syndactyly Rnf10tm1b(KOMP)Wtsi HOM E15.5 0.00
decreased mean corpuscular volume Rnf10em1(IMPC)J HOM Early adult 3.49×10-06
decreased mean corpuscular hemoglobin concentration Rnf10tm1b(KOMP)Wtsi HOM Early adult 2.04×10-05
decreased prepulse inhibition Rnf10tm1b(KOMP)Wtsi HOM   Early adult 2.56×10-14
limb grasping Rnf10tm1b(KOMP)Wtsi HOM Early adult 9.41×10-07
increased grip strength Rnf10tm1b(KOMP)Wtsi HET Early adult 3.09×10-06
abnormal lens morphology Rnf10tm1b(KOMP)Wtsi HET   Early adult 5.26×10-05
abnormal eye morphology Rnf10em1(IMPC)Mbp HOM Early adult 0.00
decreased circulating triglyceride level Rnf10tm1b(KOMP)Wtsi HET Early adult 1.48×10-15
decreased mean corpuscular volume Rnf10em1(IMPC)J HOM Late adult 2.96×10-05
decreased exploration in new environment Rnf10tm1b(KOMP)Wtsi HOM Early adult 5.51×10-15
hyperactivity Rnf10tm1b(KOMP)Wtsi HOM   Early adult 2.37×10-10
decreased exploration in new environment Rnf10em1(IMPC)J HOM Late adult 3.16×10-05
increased circulating triglyceride level Rnf10tm1b(KOMP)Wtsi HOM Early adult 2.02×10-05
decreased lymphocyte cell number Rnf10tm1b(KOMP)Wtsi HOM Early adult 2.53×10-05
increased heart weight Rnf10tm1b(KOMP)Wtsi HET Early adult 2.68×10-05
decreased anxiety-related response Rnf10tm1b(KOMP)Wtsi HOM Early adult 1.00×10-05
decreased mean corpuscular hemoglobin Rnf10em1(IMPC)J HOM Late adult 1.55×10-05
decreased circulating serum albumin level Rnf10tm1b(KOMP)Wtsi HET Early adult 5.25×10-07
decreased circulating glucose level Rnf10tm1b(KOMP)Wtsi HOM Early adult 4.66×10-06
increased vertical activity Rnf10em1(IMPC)Bay HOM Early adult 2.16×10-10
decreased circulating cholesterol level Rnf10tm1b(KOMP)Wtsi HOM Early adult 3.59×10-05

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Wholemount images  Section images heterozygote 72.73% (16 of 22)
Adrenal gland  Wholemount images homozygote 100% (2 of 2)
Aorta  Wholemount images  Section images heterozygote 63.64% (14 of 22)
Aorta  Wholemount images homozygote 100% (2 of 2)
Bone  Wholemount images heterozygote 14.29% (2 of 14)
Bone  Wholemount images homozygote Ambiguous
Brain  Wholemount images  Section images heterozygote 95.45% (21 of 22)
Brain  Wholemount images homozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 59.09% (13 of 22)
Brown adipose tissue  Wholemount images  Section images heterozygote 63.64% (14 of 22)
Brown adipose tissue  Wholemount images homozygote 100% (2 of 2)
Cartilage tissue  Wholemount images  Section images heterozygote 50% (11 of 22)
Cecum  Wholemount images  Section images heterozygote 66.67% (8 of 12)
Cecum  Wholemount images homozygote 100% (2 of 2)
Cerebellum  Wholemount images  Section images heterozygote 77.27% (17 of 22)
Cerebral cortex  Wholemount images heterozygote 59.09% (13 of 22)
Chest bone  Wholemount images heterozygote 80% (8 of 10)
Chest bone  Wholemount images homozygote 100% (2 of 2)
Colon  Section images heterozygote 80% (8 of 10)
Diaphragm  Wholemount images  Section images heterozygote 80% (8 of 10)
Diaphragm  Wholemount images homozygote 100% (2 of 2)
Duodenum  Wholemount images  Section images heterozygote 75% (6 of 8)
Duodenum  Wholemount images homozygote 100% (2 of 2)
Epididymis  Wholemount images  Section images heterozygote 25% (3 of 12)
Epididymis  Wholemount images homozygote Not available
Esophagus  Wholemount images  Section images heterozygote 77.78% (14 of 18)
Esophagus  Wholemount images homozygote 100% (2 of 2)
Eye  Wholemount images  Section images heterozygote 13.64% (3 of 22)
Eye  Wholemount images homozygote 100% (2 of 2)
Gall bladder  Wholemount images heterozygote 44.44% (8 of 18)
Gall bladder  Wholemount images homozygote 100% (2 of 2)
Gonadal fat pad  Wholemount images  Section images heterozygote 62.5% (5 of 8)
Gonadal fat pad  Wholemount images homozygote 100% (2 of 2)
Harderian gland  Wholemount images  Section images heterozygote 80% (8 of 10)
Harderian gland  Wholemount images homozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 77.27% (17 of 22)
Heart  Wholemount images homozygote 100% (2 of 2)
Hindlimb  Wholemount images heterozygote 40% (4 of 10)
Hindlimb  Wholemount images homozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 59.09% (13 of 22)
Hypothalamus  Wholemount images  Section images heterozygote 59.09% (13 of 22)
Ileum  Wholemount images  Section images heterozygote 87.5% (7 of 8)
Ileum  Wholemount images homozygote 100% (2 of 2)
Jejunum  Wholemount images  Section images heterozygote 75% (6 of 8)
Jejunum  Wholemount images homozygote 100% (2 of 2)
Kidney  Wholemount images  Section images heterozygote 95.45% (21 of 22)
Kidney  Wholemount images homozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 86.36% (19 of 22)
Large intestine  Wholemount images homozygote 100% (2 of 2)
Liver  Wholemount images  Section images heterozygote 50% (11 of 22)
Liver  Wholemount images homozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 59.09% (13 of 22)
Lung  Wholemount images  Section images heterozygote 72.73% (16 of 22)
Lung  Wholemount images homozygote 100% (2 of 2)
Lymph node  Wholemount images heterozygote 0.0% (0 of 22)
Lymph node  Wholemount images homozygote Ambiguous
Main olfactory bulb  Wholemount images heterozygote 66.67% (4 of 6)
Main olfactory bulb  Wholemount images homozygote 100% (2 of 2)
Mammary gland  Wholemount images  Section images heterozygote 13.64% (3 of 22)
Mammary gland  Wholemount images homozygote 50% (1 of 2)
Mesenteric adipose tissue  Wholemount images  Section images heterozygote 75% (6 of 8)
Mesenteric adipose tissue  Wholemount images homozygote 100% (2 of 2)
Mesenteric lymph node  Wholemount images heterozygote 0.0% (0 of 10)
Mesenteric lymph node  Wholemount images homozygote Ambiguous
Midbrain  Wholemount images  Section images heterozygote 90% (9 of 10)
Olfactory lobe  Wholemount images heterozygote 68.18% (15 of 22)
Ovary  Wholemount images  Section images heterozygote 40.91% (9 of 22)
Ovary  Wholemount images homozygote 50% (1 of 2)
Oviduct  Wholemount images  Section images heterozygote 40.91% (9 of 22)
Oviduct  Wholemount images homozygote 50% (1 of 2)
Pancreas  Wholemount images heterozygote 31.82% (7 of 22)
Pancreas  Wholemount images homozygote 100% (2 of 2)
Parathyroid gland  Wholemount images heterozygote 77.78% (14 of 18)
Parathyroid gland  Wholemount images homozygote 100% (2 of 2)
Parotid gland  Wholemount images  Section images heterozygote 10% (1 of 10)
Parotid gland  Wholemount images homozygote Ambiguous
Penis  Wholemount images  Section images heterozygote 40% (4 of 10)
Penis  Wholemount images homozygote 50% (1 of 2)
Peripheral nervous system  Wholemount images  Section images heterozygote 59.09% (13 of 22)
Pituitary gland  Wholemount images  Section images heterozygote 68.18% (15 of 22)
Pituitary gland  Wholemount images homozygote 100% (2 of 2)
Prostate gland  Wholemount images heterozygote 31.82% (7 of 22)
Prostate gland  Wholemount images homozygote 50% (1 of 2)
Quadriceps  Wholemount images  Section images heterozygote 100% (8 of 8)
Quadriceps  Wholemount images homozygote 100% (2 of 2)
Sciatic nerve  Wholemount images heterozygote 20% (2 of 10)
Sciatic nerve  Wholemount images homozygote 100% (2 of 2)
Skeletal muscle  Wholemount images  Section images heterozygote 72.22% (13 of 18)
Skin  Wholemount images  Section images heterozygote 63.64% (14 of 22)
Skin  Wholemount images homozygote 100% (2 of 2)
Small intestine  Wholemount images heterozygote 72.73% (16 of 22)
Spinal cord  Wholemount images  Section images heterozygote 90.91% (20 of 22)
Spinal cord  Wholemount images homozygote 100% (2 of 2)
Spleen  Wholemount images heterozygote 40.91% (9 of 22)
Spleen  Wholemount images homozygote 100% (2 of 2)
Stomach  Wholemount images  Section images heterozygote 68.18% (15 of 22)
Stomach  Wholemount images homozygote 100% (2 of 2)
Striatum  Wholemount images  Section images heterozygote 59.09% (13 of 22)
Sublingual gland  Wholemount images  Section images heterozygote 10% (1 of 10)
Sublingual gland  Wholemount images homozygote Ambiguous
Submandibular gland  Wholemount images  Section images heterozygote 25% (3 of 12)
Submandibular gland  Wholemount images homozygote Ambiguous
Testis  Wholemount images  Section images heterozygote 50% (11 of 22)
Testis  Wholemount images homozygote 50% (1 of 2)
Thymus  Wholemount images heterozygote 4.55% (1 of 22)
Thymus  Wholemount images homozygote Ambiguous
Thyroid gland  Wholemount images  Section images heterozygote 31.82% (7 of 22)
Thyroid gland  Wholemount images homozygote Ambiguous
Tongue  Wholemount images  Section images heterozygote 80% (8 of 10)
Tongue  Wholemount images homozygote 100% (2 of 2)
Trachea  Wholemount images  Section images heterozygote 86.36% (19 of 22)
Trachea  Wholemount images homozygote 100% (2 of 2)
Trigeminal V nerve  Wholemount images  Section images heterozygote 66.67% (8 of 12)
Trigeminal V nerve  Wholemount images homozygote 100% (2 of 2)
Urinary bladder  Wholemount images  Section images heterozygote 75% (9 of 12)
Urinary bladder  Wholemount images homozygote 100% (2 of 2)
Uterus  Wholemount images  Section images heterozygote 40.91% (9 of 22)
Uterus  Wholemount images homozygote 50% (1 of 2)
Vagina  Wholemount images heterozygote 20% (2 of 10)
Vagina  Wholemount images homozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 16.67% (2 of 12)
Vascular system  Wholemount images  Section images heterozygote 38.89% (7 of 18)
Vesicular gland  Wholemount images  Section images heterozygote 16.67% (2 of 12)
Vesicular gland  Wholemount images homozygote 50% (1 of 2)
White adipose tissue  Wholemount images heterozygote 18.18% (4 of 22)
White adipose tissue  Wholemount images homozygote 100% (2 of 2)
Blood vessel N/A heterozygote 100% (4 of 4)
N/A Ambiguous
Blood N/A heterozygote 0.0% (0 of 6)
N/A Ambiguous
Bone marrow N/A heterozygote 0.0% (0 of 6)
N/A Ambiguous
Brainstem N/A homozygote 100% (2 of 2)
Cartilage tissue N/A homozygote Ambiguous
Cerebellum N/A homozygote 100% (2 of 2)
Cerebral cortex N/A homozygote 100% (2 of 2)
Colon N/A homozygote 100% (2 of 2)
Cranium N/A heterozygote 0.0% (0 of 6)
Cranium N/A homozygote Ambiguous
Hippocampus N/A homozygote 100% (2 of 2)
Hypothalamus N/A homozygote 100% (2 of 2)
Lower urinary tract N/A homozygote 100% (2 of 2)
Midbrain N/A homozygote 100% (2 of 2)
Esophagus N/A heterozygote 100% (4 of 4)
N/A Ambiguous
Olfactory lobe N/A homozygote 100% (2 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 10)
Oral epithelium N/A homozygote 0.0% (0 of 2)
Peripheral nervous system N/A homozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 4)
N/A Ambiguous
Peyer's patch N/A heterozygote 0.0% (0 of 18)
Peyer's patch N/A homozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 100% (4 of 4)
N/A Ambiguous
Skeletal muscle N/A homozygote 100% (2 of 2)
Small intestine N/A homozygote 100% (2 of 2)
Stomach pyloric region N/A heterozygote 0.0% (0 of 10)
Stomach pyloric region N/A homozygote 0.0% (0 of 2)
Striatum N/A homozygote 100% (2 of 2)
Thalamus N/A heterozygote 83.33% (5 of 6)
Thalamus N/A homozygote 100% (2 of 2)
Vas deferens N/A homozygote Not available
Vascular system N/A homozygote 100% (2 of 2)

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

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (9 of 9)
Embryo N/A homozygote 66.67% (2 of 3)
Eye N/A heterozygote 100% (9 of 9)
Forebrain N/A heterozygote 77.78% (7 of 9)
Forelimb N/A heterozygote 100% (9 of 9)
Head N/A heterozygote 77.78% (7 of 9)
Heart N/A heterozygote 33.33% (3 of 9)
Hindlimb N/A heterozygote 100% (9 of 9)
Liver N/A heterozygote 11.11% (1 of 9)
Mandibular process N/A heterozygote 77.78% (7 of 9)
Maxillary process N/A heterozygote 77.78% (7 of 9)
Midbrain N/A heterozygote 66.67% (6 of 9)
Tail N/A heterozygote 100% (9 of 9)
Heart atrium N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Axial skeleton N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Brain N/A heterozygote 77.78% (7 of 9)
Brain N/A homozygote 33.33% (1 of 3)
Central nervous system ganglion N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Dorsal root ganglion N/A heterozygote 0.0% (0 of 3)
N/A Ambiguous
Ear N/A heterozygote 66.67% (6 of 9)
Ear N/A homozygote 33.33% (1 of 3)
Outer ear N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Eye N/A homozygote 33.33% (1 of 3)
Footplate N/A heterozygote 44.44% (4 of 9)
Footplate N/A homozygote Ambiguous
Forearm N/A heterozygote 100% (5 of 5)
N/A Ambiguous
Forebrain N/A homozygote 33.33% (1 of 3)
Forelimb N/A homozygote 66.67% (2 of 3)
Fronto-nasal process N/A heterozygote 66.67% (2 of 3)
N/A Ambiguous
Gut N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Handplate N/A heterozygote 44.44% (4 of 9)
Handplate N/A homozygote Ambiguous
Head mesenchyme N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Head N/A homozygote 66.67% (2 of 3)
Heart ventricle N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Heart N/A homozygote 33.33% (1 of 3)
Hindbrain N/A heterozygote 77.78% (7 of 9)
Hindbrain N/A homozygote 33.33% (1 of 3)
Hindlimb N/A homozygote 66.67% (2 of 3)
Intestine N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Liver N/A homozygote 33.33% (1 of 3)
Lower leg N/A heterozygote 100% (5 of 5)
N/A Ambiguous
Lung N/A heterozygote 11.11% (1 of 9)
Lung N/A homozygote 33.33% (1 of 3)
Mandibular process N/A homozygote 33.33% (1 of 3)
Maxillary process N/A homozygote 33.33% (1 of 3)
Meckel's cartilage N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Midbrain N/A homozygote 33.33% (1 of 3)
Nasal septum N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Nose N/A heterozygote 100% (3 of 3)
N/A Ambiguous
Notochord N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Oral cavity N/A heterozygote 22.22% (2 of 9)
Oral cavity N/A homozygote 33.33% (1 of 3)
Outflow tract N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Pharynx N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Chorioallantoic placenta N/A heterozygote Not available
N/A Ambiguous
Radius-ulna pre-cartilage condensation N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Rib pre-cartilage condensation N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Skeleton N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Skin N/A heterozygote 33.33% (3 of 9)
Skin N/A homozygote 33.33% (1 of 3)
Spinal cord N/A heterozygote 33.33% (1 of 3)
N/A Ambiguous
Tail somite N/A heterozygote 66.67% (6 of 9)
Tail somite N/A homozygote 66.67% (2 of 3)
Tail N/A homozygote 66.67% (2 of 3)
Thoracic vertebral cartilage condensation N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Tongue N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Trachea N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Trunk mesenchyme N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Upper arm N/A heterozygote 60% (3 of 5)
N/A Ambiguous
Upper leg N/A heterozygote 60% (3 of 5)
N/A Ambiguous
Vibrissa N/A heterozygote 100% (2 of 2)
N/A Ambiguous

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood
blood vessel
bone 0.0%
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
cranium
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
main olfactory bulb 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
oesophagus
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyer's patch
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
atrium Ambiguous
axial skeleton Ambiguous
brain 0.0%
central nervous system ganglion Ambiguous
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
external ear Ambiguous
eye 0.0%
footplate 0.0%
forearm Ambiguous
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
gut Ambiguous
handplate 0.0%
head 0.0%
head mesenchyme Ambiguous
heart 0.0%
heart ventricle Ambiguous
hindbrain 0.0%
hindlimb 0.0%
intestine Ambiguous
liver 0.0%
lower leg Ambiguous
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
meckel's cartilage Ambiguous
midbrain 0.0%
nasal septum Ambiguous
nose Ambiguous
notochord Ambiguous
oral cavity 0.0%
outflow tract Ambiguous
pericardium Ambiguous
pharynx Ambiguous
placenta Ambiguous
radius-ulna pre cartilage condensation Ambiguous
rib pre-cartilage condensation Ambiguous
skeleton Ambiguous
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%
thoracic vertebral cartilage condensation Ambiguous
tongue Ambiguous
trachea Ambiguous
trunk mesenchyme Ambiguous
upper arm Ambiguous
upper leg Ambiguous
vibrissa Ambiguous

Associated Images

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

Embryo LacZ

LacZ images wholemount

87 Images

Adult LacZ

LacZ Images Wholemount

551 Images

MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

87 Images

Combined SHIRPA and Dysmorphology

Images

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

121 Images

Adult LacZ

LacZ Images Section

176 Images

Anti-nuclear antibody assay

Images

7 Images

X-ray

XRay Images Skull Lateral Orientation

77 Images

X-ray

XRay Images Whole Body Lateral Orientation

121 Images

Electrocardiogram (ECG)

Waveform Image

34 Images

Eye Morphology

Images Ophthalmoscopy

14 Images

X-ray

XRay Images Forepaw

59 Images

Eye Morphology

VIP of left eye

15 Images

X-ray

XRay Images Hind Leg and Hip

16 Images

Echo

M-Mode Images

32 Images

Eye Morphology

VIP of right eye

15 Images

Gross Pathology and Tissue Collection

Images

14 Images

Eye Morphology

VIP of left fundus

15 Images

Sleep Wake

Wake state (bmp file)

19 Images

Eye Morphology

Images Slit Lamp

8 Images

Eye Morphology

VIP of right fundus

15 Images

DSS Histology

Images

16 Images

Histopathology

Images

1 Images

Immunophenotyping

Panel B FCS file(s)

18 Images

Ear epidermis immunophenotyping

Images

12 Images

Immunophenotyping

Panel A FCS file(s)

18 Images

Auditory Brain Stem Response

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

16 Images

Legacy Phenotype Associated Images

View all 155 images

View all 9 images

Human diseases caused by Rnf10 mutations

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

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

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Rnf10 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Microcephaly 24, Primary, Autosomal Recessive
Clinodactyly of the 5th finger, Cerebellar vermis hypoplasia, Primary microcephaly OMIM:618179
Spinal Muscular Atrophy With Mental Retardation
Syndactyly, Microcephaly OMIM:271109
Syndactyly Type 1
Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand ORPHA:93402
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
2-4 toe syndactyly, Syndactyly, Microcephaly OMIM:241000
Syndactyly, Type Iii
Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger OMIM:186100
Brachmann-De Lange-Like Facial Changes With Microcephaly, Metatarsus Adductus, And Developmental Delay
Metatarsus adductus, Unusual dermatoglyphics, Microcephaly OMIM:112370
Teratocarcinoma-Derived growth factor 1
Absent septum pellucidum, Hypoplasia of the corpus callosum, Microcephaly OMIM:187395
Polydactyly, Preaxial Ii
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... OMIM:174500
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus OMIM:234280
Polydactyly, Postaxial, Type A1
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... OMIM:174200
Synpolydactyly 1
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... OMIM:186000
Triphalangeal Thumb With Polysyndactyly
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... OMIM:190605
Intellectual Developmental Disorder, Autosomal Recessive 28
Microcephaly OMIM:614347
1q21.1 recurrent microdeletion (susceptibility locus for neurodevelopmental disorders)
Microcephaly DECIPHER:62
Recurrent 16p12.1 microdeletion (neurodevelopmental susceptibility locus)
Microcephaly DECIPHER:92
Microcephaly 28, Primary, Autosomal Recessive
Microcephaly OMIM:619453
Intellectual Developmental Disorder, Autosomal Recessive 51
Microcephaly OMIM:616739
Intellectual Developmental Disorder, Autosomal Recessive 7
Microcephaly OMIM:611093
Cri du Chat Syndrome (5p deletion)
Microcephaly DECIPHER:2
Microcephaly 18, Primary, Autosomal Dominant
Microcephaly OMIM:617520
Syndactyly Type 2
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... ORPHA:93403
Polydactyly, Postaxial, Type A5
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis OMIM:263450
Syndactyly, Type Iv
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... OMIM:186200
Syndactyly Type 3
Finger syndactyly, Short toe, Camptodactyly of finger ORPHA:93404
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Symphalangism With Multiple Anomalies Of Hands And Feet
Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... ORPHA:3246
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Syndactyly, Megalencephaly, Postaxial hand polydactyly, Thick corpus callosum, Macrocephaly, Poly... OMIM:615938
Intellectual Developmental Disorder, Autosomal Recessive 33
Syndactyly, Short toe OMIM:614341
Polydactyly, Preaxial Iv
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... OMIM:174700
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t... ORPHA:1891
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Syndactyly Type 5
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl... ORPHA:93406
Brachydactyly, Type A2
Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul... OMIM:112600
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Syndactyly, Microcephaly, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones, Cutaneous f... OMIM:600384
Brachydactyly, Type A2, With Microcephaly
Microcephaly, Clinodactyly of the 2nd toe, Absent middle phalanx of 2nd finger, Thumbs hypoplasti... OMIM:211369
Brachydactyly Type A7
Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala... ORPHA:93397
Chromosome 2Q35 Duplication Syndrome
Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly OMIM:185900
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Wahab Syndrome
Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A... OMIM:615170
Liebenberg Syndrome
Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl... OMIM:186550
Ectrodactyly-Polydactyly Syndrome
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... ORPHA:1892
Brachydactyly-Syndactyly Syndrome
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... OMIM:610713
Split-Hand/Foot Malformation 4
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... OMIM:605289
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Split-Hand/Foot Malformation 6
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly OMIM:225300
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl... OMIM:609432
Camptosynpolydactyly, Complex
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly OMIM:607539
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Abnormal bone structure, Anemia ORPHA:46532
Congenital Radioulnar Synostosis
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... ORPHA:3269
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... ORPHA:157801
Hemophagocytic Lymphohistiocytosis, Familial, 1
Decreased HDL cholesterol concentration, Leukopenia, Hypoalbuminemia, Hyponatremia, Hepatomegaly,... OMIM:267700
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia ORPHA:71289
Gombo Syndrome
Clinodactyly, Microcephaly, Radial deviation of finger, Brachydactyly OMIM:233270
Microcephaly-Cardiomyopathy
Clinodactyly of the 5th finger, Sandal gap, Microcephaly OMIM:251220
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... ORPHA:93405
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hepatomegaly, Bilateral tonic-clonic seizure with focal onset, Hypersplenism, Splenom... OMIM:610539
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Tremor, Hypoalbuminemia, Hepatic f... ORPHA:247585
Syndactyly, Type V
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... OMIM:186300
Split-Hand/Foot Malformation 2
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger OMIM:313350
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Ataxia, Increased circulating fer... OMIM:603553
Anemia, Sideroblastic, 4
Abnormal erythrocyte morphology, Sideroblastic anemia OMIM:182170
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Chromosome 2Q31.1 Duplication Syndrome
Absent thumb, Short thumb, 3-4 finger cutaneous syndactyly, Talipes equinovarus, Triphalangeal thumb OMIM:613681
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Cardiomegaly ORPHA:88643
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile ... OMIM:619868
Metacarpal 4-5 Fusion
Clinodactyly of the 5th finger, 2-3 toe cutaneous syndactyly, 4-5 metacarpal synostosis, Short 5t... OMIM:309630
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl... ORPHA:488232
Split-Hand/Foot Malformation 1
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact... OMIM:183600
Brachydactyly-Syndactyly, Zhao Type
Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy... ORPHA:93409
Syndactyly-Polydactyly-Earlobe Syndrome
Broad toe, Preaxial hand polydactyly, 1-2 toe complete cutaneous syndactyly, Preaxial foot polyda... OMIM:186350
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Progressive neurologic deterioration, Congestive hear... ORPHA:90065
Heart-Hand Syndrome, Slovenian Type
Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand OMIM:610140
Brachydactyly Type B
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... ORPHA:93383
Analbuminemia
Lipodystrophy, Elevated circulating transferrin concentration, Increased LDL cholesterol concentr... OMIM:616000
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Ataxia, Tremor, Seizure, Myoclonus, Dystonia, ... OMIM:615924
Split-Foot Malformation With Mesoaxial Polydactyly
1-2 toe syndactyly, Mesoaxial hand polydactyly, 4-5 toe syndactyly, Split hand, Split foot OMIM:616890
Neuroleptic Malignant Syndrome
Elevated circulating creatine kinase concentration, Pulmonary embolism, Tremor, Hypocalcemia, Del... ORPHA:94093
Brachydactyly Type B2
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... ORPHA:140908
Santos Syndrome
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... OMIM:613005
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Anemia OMIM:619398
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Aphalangy-Syndactyly-Microcephaly Syndrome
Toe syndactyly, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ... ORPHA:1113
Feingold Syndrome 2
Short middle phalanx of the 2nd finger, Short thumb, 2-3 toe syndactyly, Secondary microcephaly, ... OMIM:614326
Ethanolaminosis
Cardiomegaly OMIM:227150
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Jawad Syndrome
Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd... OMIM:251255
Pyruvate Carboxylase Deficiency
Anorexia, Tremor, Compulsive behaviors, Hyperglycemia, Hypoglutaminemia, Hepatomegaly, Ataxia, Se... ORPHA:3008
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Decreased skull ossification, Abnormal hemoglobin, Anemia ORPHA:3319
Ch├ędiak-Higashi Syndrome
Tremor, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremi... ORPHA:167
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Immunodeficiency 27A
Hypoplasia of the femoral head, Anorexia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphad... OMIM:209950
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Feingold Syndrome Type 2
Toe syndactyly, Microcephaly, Short thumb, Short middle phalanx of finger, Brachydactyly ORPHA:391646
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ... ORPHA:398063
Severe Neurodegenerative Syndrome With Lipodystrophy
Limb dystonia, Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Ataxia, Tremor, Insulin resista... ORPHA:363400
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Microcephaly, Abnormality of the elbow, Radioulnar synostosis, Clinodactyly of... ORPHA:3268
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, High-output congestive heart failur... ORPHA:231226
15Q11Q13 Microduplication Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Macrocephaly ORPHA:238446
Niemann-Pick Disease, Type B
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel... OMIM:607616
Crossed Polysyndactyly
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyly ORPHA:2935
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia OMIM:144300
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Impaired glucose tolerance, Sudden cardiac death, Myocardial infarction, Os... OMIM:610947
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Multiple Synostoses Syndrome 3
Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Metatarsal... OMIM:612961
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly OMIM:604765
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Hepatomegaly, Tachycardia, Small for gestational age, Elevated circulating... ORPHA:26793
Glycogen Storage Disease Vi
Hepatomegaly, Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Nephrotic Syndrome, Type 2