Gene Summary

Name:
tribbles pseudokinase 1
Synonyms:
Trb1,  A530090O15Rik

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
abnormal skin coloration Trib1tm1b(KOMP)Wtsi HET Early adult 4.18×10-06
preweaning lethality, incomplete penetrance Trib1tm1b(KOMP)Wtsi HOM   Early adult 0.00
abnormal embryo size Trib1tm1b(KOMP)Wtsi HOM E18.5 0.00
unresponsive to tactile stimuli Trib1tm1b(KOMP)Wtsi HET E18.5 0.00
decreased total retina thickness Trib1tm1b(KOMP)Wtsi HET   Early adult 2.32×10-05
unresponsive to tactile stimuli Trib1tm1b(KOMP)Wtsi HOM E18.5 0.00
abnormal coat appearance Trib1tm1b(KOMP)Wtsi HOM Early adult 3.41×10-05
decreased bone mineral density Trib1tm1b(KOMP)Wtsi HOM   Early adult 2.49×10-09

Download data as:  TSV  XLS

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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
Bone  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Cartilage tissue  Wholemount images heterozygote 100% (2 of 2)
Esophagus  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Liver  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Mammary gland  Wholemount images heterozygote 50% (1 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Prostate gland  Wholemount images heterozygote Not available
Skin  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thyroid gland  Wholemount images heterozygote 100% (2 of 2)
Trachea  Wholemount images heterozygote 100% (2 of 2)
Vas deferens  Wholemount images heterozygote Not available
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cecum N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote Not available
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Heart atrium N/A heterozygote 100% (2 of 2)
Axial skeleton N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
Cranium N/A heterozygote 100% (2 of 2)
Dorsal root ganglion N/A heterozygote 100% (2 of 2)
Ear N/A heterozygote 100% (2 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Outer ear N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Femur pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Footplate N/A heterozygote 100% (2 of 2)
Forearm N/A heterozygote 100% (2 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Fronto-nasal process N/A heterozygote 100% (2 of 2)
Gut N/A heterozygote 100% (2 of 2)
Handplate N/A heterozygote 100% (2 of 2)
Head mesenchyme N/A heterozygote 100% (2 of 2)
Head N/A heterozygote 100% (2 of 2)
Heart ventricle N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindlimb N/A heterozygote 100% (2 of 2)
Humerus pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Inner ear N/A heterozygote 100% (2 of 2)
Intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 100% (2 of 2)
Lower leg N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Mandibular process N/A heterozygote 100% (2 of 2)
Maxillary process N/A heterozygote 100% (2 of 2)
Mesonephros of female N/A heterozygote 50% (1 of 2)
Mesonephros of male N/A heterozygote 50% (1 of 2)
Metanephros N/A heterozygote 100% (2 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Nasal septum N/A heterozygote 100% (2 of 2)
Nose N/A heterozygote 100% (2 of 2)
Notochord N/A heterozygote 100% (2 of 2)
Oral cavity N/A heterozygote 100% (2 of 2)
Outflow tract N/A heterozygote 100% (2 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
N/A heterozygote 100% (2 of 2)
Pharynx N/A heterozygote 100% (2 of 2)
Radius-ulna pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Rib pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Skeleton N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Tail somite N/A heterozygote 100% (2 of 2)
Tail N/A heterozygote 100% (2 of 2)
Thoracic vertebral cartilage condensation N/A heterozygote 100% (2 of 2)
Tongue N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Trunk mesenchyme N/A heterozygote 100% (2 of 2)
Umbilical artery embryonic part N/A heterozygote 100% (2 of 2)
Umbilical vein embryonic part N/A heterozygote 100% (2 of 2)
Upper arm N/A heterozygote 100% (2 of 2)
Upper leg N/A heterozygote 100% (2 of 2)
Urinary system N/A heterozygote 100% (2 of 2)
Vibrissa N/A heterozygote 100% (2 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 585)
aorta 0.17% (1 of 585)
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cecum 3.23% (12 of 371)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
mesenteric lymph node 0.0%
olfactory lobe 0.34% (2 of 585)
oral epithelium 0.0%
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vas deferens 3.93% (15 of 382)
vascular system 0.0%
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 1.67% (1 of 60)
axial skeleton 1.56% (1 of 64)
brain 1.18% (6 of 508)
central nervous system ganglion 1.37% (1 of 73)
cranium 1.56% (1 of 64)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
external ear 1.35% (1 of 74)
eye 0.2% (1 of 508)
femur pre-cartilage condensation 1.82% (1 of 55)
footplate 0.2% (1 of 508)
forearm 0.33% (1 of 305)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
fronto-nasal process 1.64% (1 of 61)
gut 1.69% (1 of 59)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
head mesenchyme 1.67% (1 of 60)
heart 0.2% (1 of 508)
heart ventricle 1.67% (1 of 60)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
humerus pre-cartilage condensation 1.56% (1 of 64)
inner ear 1.56% (1 of 64)
intestine 1.72% (1 of 58)
liver 0.2% (1 of 503)
lower leg 0.33% (1 of 305)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
mesonephros of female 1.82% (1 of 55)
mesonephros of male 1.82% (1 of 55)
metanephros 1.82% (1 of 55)
midbrain 0.2% (1 of 508)
nasal septum 1.67% (1 of 60)
nose 1.28% (1 of 78)
notochord 1.67% (1 of 60)
oral cavity 0.2% (1 of 503)
outflow tract 1.67% (1 of 60)
pancreas 1.82% (1 of 55)
pericardium 1.82% (1 of 55)
pharynx 1.79% (1 of 56)
radius-ulna pre cartilage condensation 1.56% (1 of 64)
rib pre-cartilage condensation 1.75% (1 of 57)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 508)
spinal cord 1.39% (1 of 72)
stomach 1.82% (1 of 55)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)
thoracic vertebral cartilage condensation 1.82% (1 of 55)
tongue 1.82% (1 of 55)
trachea 1.69% (1 of 59)
trunk mesenchyme 1.67% (1 of 60)
umbilical artery embryonic part 1.67% (1 of 60)
umbilical vein embryonic part 1.67% (1 of 60)
upper arm 0.33% (1 of 305)
upper leg 0.33% (1 of 305)
urinary system 1.69% (1 of 59)
vibrissa 1.35% (1 of 74)

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

Adult LacZ

LacZ Images Wholemount

16 Images

X-ray

XRay Images Forepaw

14 Images

Human diseases caused by Trib1 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 Trib1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Neurofibromatosis Type 6
Freckling, Multiple cafe-au-lait spots ORPHA:2678
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Short stature, Insulin resistance, Lipodystrophy, Reduced subcutaneous adipose tiss... OMIM:612526
Acroleukopathy, Symmetric
Symmetric great toe depigmentation OMIM:102000
Hyperpigmentation Of Fuldauer And Kuijpers
Hyperpigmentation of the skin OMIM:145200
Hyperpigmentation, Familial Progressive, 1
Hyperpigmentation of the skin OMIM:614233
Nasal Hyperpigmentation, Familial Transverse
Hyperpigmentation of the skin OMIM:161530
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Hypochromia, Type II diabetes mellitus, Erythroid hyperplasia, Elevated hepatic iro... OMIM:616860
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Abnormal circulating lipid concentration, Elevated circulating creatine kinas... OMIM:615980
Multiple Symmetric Lipomatosis
Abnormal adipose tissue morphology, Hepatomegaly, Multiple lipomas, Insulin resistance ORPHA:2398
Lipodystrophy, Familial Partial, Type 1
Increased facial adipose tissue, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Insu... OMIM:608600
Retinoschisis, Autosomal Dominant
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis OMIM:180270
Lipodystrophy, Familial Partial, Type 7
Decreased adipose tissue around neck, Lack of facial subcutaneous fat, Loss of subcutaneous adipo... OMIM:606721
Stargardt Disease 1
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration OMIM:248200
Acquired Partial Lipodystrophy
Hepatic steatosis, Lipoatrophy, Lymphocytosis, Insulin resistance ORPHA:79087
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Abnormality of skin pigmentation, Rod-cone dystrophy OMIM:300719
Lipase Deficiency, Combined
Lipodystrophy, Type II diabetes mellitus, Pancreatitis, Hypertriglyceridemia OMIM:246650
Familial Isolated Dilated Cardiomyopathy
Elevated circulating creatine kinase concentration, Lipoatrophy, Abnormality of neutrophils ORPHA:154
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Insulin resistance, Pancreatitis, Hepatic steatosis, Lipoatrophy, Diabetes mellitus... ORPHA:79084
Beta-Thalassemia Intermedia
Leukocytosis, Hepatomegaly, Abnormality of iron homeostasis, Erythroid hyperplasia, Elevated hepa... ORPHA:231222
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatic fibrosis, Insulin-resistant diabetes mellit... ORPHA:280356
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concen... OMIM:604367
Pyknoachondrogenesis
Stillbirth, Increased bone mineral density OMIM:265880
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Lipoatrophy, Diabetes mellitus, Hypertriglyceridemia OMIM:613877
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Intrauterine growth retardation, Small for gestational age, Short stature, Failure to thrive, Sle... ORPHA:50811
Porphyria Cutanea Tarda
Increased serum iron, Abnormal erythrocyte enzyme level, Scarring, Elevated hepatic iron concentr... ORPHA:101330
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased serum iron, Decreased transferrin saturation, Anisopoikilocytosis, Growth delay, Elevat... ORPHA:300298
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Delayed puberty, Growth delay, Truncal obesity, Insulin resistance ORPHA:140941
African Iron Overload
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... ORPHA:139507
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Abnormal circulating lipid concentration, Lipodystrophy, Hepatic steatosis, Hypertr... OMIM:615238
Type 2 Diabetes Mellitus
Type II diabetes mellitus, Increased waist to hip ratio, Insulin resistance OMIM:125853
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... ORPHA:411593
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Failure to thrive in infancy, Increased proportion of CD4-positive T cells, Increas... OMIM:617099
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Insulin resistance, I... ORPHA:435660
Retinitis Pigmentosa 35
Abnormality of skin pigmentation, Cone/cone-rod dystrophy, Rod-cone dystrophy OMIM:610282
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hyperlipidemia, Insulin resistance, Insulin-resistant diabetes mellitus, Lipodystro... ORPHA:79085
Growth Factors, Combined Defect Of
Insulin-resistant diabetes mellitus, Lipodystrophy, Reduced subcutaneous adipose tissue, Flexion ... OMIM:233805
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Lipodystrophy, Pa... ORPHA:2348
Gracile Syndrome
Decreased transferrin saturation, Intrauterine growth retardation, Elevated hepatic iron concentr... ORPHA:53693
Primary Lipodystrophy
Type II diabetes mellitus, Hyperlipidemia, Insulin resistance, Lipodystrophy, Pancreatitis, Splen... ORPHA:90970
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Lymphadenopathy, Failure to thrive, Panniculitis, Anemia, Lipodystrophy, Splenomega... OMIM:617591
Aredyld Syndrome
Hepatomegaly, Cachexia, Type II diabetes mellitus, Intrauterine growth retardation, Short stature... ORPHA:1133
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia, Lipoatrophy, Hepatic hemangioma ORPHA:141184
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Abnormal circulating lipid concentration, Weight loss, Lipodystrophy, Reduced subcutane... ORPHA:1979
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Hypoglycemia, Short stature, Insulin resistance, Failure to thrive, Tr... ORPHA:181393
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Type II diabetes mellitus, Insulin resistance, Increased... OMIM:615703
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Insulin-resistant dia... ORPHA:435651
Congenital Generalized Lipodystrophy
Hepatomegaly, Insulin resistance, Failure to thrive, Lipodystrophy, Adipose tissue loss, Cirrhosi... ORPHA:528
Pressure-Induced Localized Lipoatrophy
Absence of subcutaneous fat, Lipoatrophy, Reduced subcutaneous adipose tissue ORPHA:90160
Panniculitis-Induced Localized Lipodystrophy
Abnormal immunoglobulin level, Absence of subcutaneous fat, Lipoatrophy, Reduced subcutaneous adi... ORPHA:90159
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Diabetes mellitus, Insulin resistance OMIM:612227
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Insulin resistance, Lipodystrophy, Hepatic steatosis, Diabetes mellitus, Flexion co... OMIM:615381
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Progressive loss of facial adipose tissue, Lipodystrophy, Loss of subcutaneous adipose tissue fro... OMIM:613913
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Failure to thrive, Anemia, Splenomegaly, Increased circula... OMIM:615285
Exudative Vitreoretinopathy 3
Retinal fold, Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment OMIM:605750
Lipodystrophy, Familial Partial, Type 2
Increased facial adipose tissue, Hepatomegaly, Decreased HDL cholesterol concentration, Loss of s... OMIM:151660
Aceruloplasminemia
Aceruloplasminemia, Hypochromic microcytic anemia, Elevated hepatic iron concentration, Refractor... ORPHA:48818
Lattice Degeneration Of Retina Leading To Retinal Detachment
Retinal detachment, Lattice retinal degeneration OMIM:150500
Drug-Induced Localized Lipodystrophy
Absence of subcutaneous fat, Lipoatrophy, Reduced subcutaneous adipose tissue ORPHA:90157
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Maternal diabetes, Loss of subcutaneous adipose tissue in limbs, Insulin resistance... ORPHA:79083
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Insulin resistance, Reduced subcutaneous adipose tissue, Reduced intraabdominal adi... ORPHA:363400
Ddost-Cdg
Short stature, Failure to thrive, Lipodystrophy, Hepatic steatosis, Elevated hepatic transaminase ORPHA:300536
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Insulin-resistant diabetes mell... ORPHA:2457
Stiff Skin Syndrome
Short stature, Lipodystrophy, Knee flexion contracture, Camptodactyly, Elbow flexion contracture OMIM:184900
Mandibuloacral Dysplasia With Type A Lipodystrophy
Increased facial adipose tissue, Calcinosis, Loss of subcutaneous adipose tissue in limbs, Hyperl... OMIM:248370
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Intrauterine growth retardation, Small for gestational age, Short stature, Failure to thrive, Sle... OMIM:608154
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hypopigmented skin patches, Vitiligo, Multiple lentigines, Progressive hyperpigmentation, Hyperme... OMIM:145250
Short Syndrome
Intrauterine growth retardation, Small for gestational age, Insulin-resistant diabetes mellitus, ... OMIM:269880
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Insulin resistance, Decreased circulating IgA level, Elevated circulating creatine ... OMIM:613327
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal degeneration, Mizuo phenomenon, Retinal pigment epithelial atrophy, Reti... OMIM:312700
Glycogen Storage Disease Vi
Hepatomegaly, Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, Increased hepatic glyco... OMIM:232700
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Increased facial adipose tissue, Hepatomegaly, Decreased HDL cholesterol concentration, Loss of s... ORPHA:280365
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Lipodyst... OMIM:616000
Membranoproliferative Glomerulonephritis, X-Linked
Lipodystrophy OMIM:305800
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Lymphadenopathy, Panniculitis, Generalized lipodystrophy, Splenomegaly, Flexion con... OMIM:619183
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Failure to thrive, Neutropenia, Short stature OMIM:616022
Ruijs-Aalfs Syndrome
Hepatocellular carcinoma, Short stature, Lipodystrophy, Decreased body weight, Elbow flexion cont... OMIM:616200
Graft Versus Host Disease
Lymphadenopathy, Failure to thrive, Fasciitis, Lipodystrophy, Hyperbilirubinemia, Acute hepatitis... ORPHA:39812
Short Syndrome
Insulin resistance, Weight loss, Lipodystrophy, Abnormal dental enamel morphology, Severe short s... ORPHA:3163
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Cortisone Reductase Deficiency 2
Obesity, Insulin resistance OMIM:614662
H Syndrome
Short stature, Lymphadenopathy, Lipodystrophy, Hernia, Hepatosplenomegaly, Microcytic anemia, Dia... ORPHA:168569
Insulin-Like Growth Factor I, Resistance To
Intrauterine growth retardation, Short stature, Lipodystrophy, Reduced subcutaneous adipose tissu... OMIM:270450
Stiff Skin Syndrome
Abnormal circulating lipid concentration, Lipoatrophy, Type II diabetes mellitus, Short stature ORPHA:2833
Insulin-Resistance Syndrome Type B
Fasting hypoglycemia, Abnormality of body weight, Insulin-resistant diabetes mellitus, Fasting hy... ORPHA:2298
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Severe intrauterine growth retardation, Hypoglycemia, Intrauterine growth retardation, Small for ... ORPHA:73272
C3 Glomerulopathy
Lipodystrophy, Elevated circulating creatinine concentration, Paraproteinemia ORPHA:329918
Ectodermal Dysplasia, Trichoodontoonychial Type
Lipoatrophy ORPHA:1818
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Mandibuloacral Dysplasia With Type B Lipodystrophy
Decreased adipose tissue around neck, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemi... OMIM:608612
Poems Syndrome
Thrombocytosis, Polycythemia, Lymphadenopathy, Weight loss, Lipodystrophy, Increased circulating ... ORPHA:2905
Retinal Detachment
Retinal detachment OMIM:180050
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Umbilical hernia, Insulin-resistant diabetes mellitus at puberty, Reduced intrathor... OMIM:608594
Proteasome-Associated Autoinflammatory Syndrome 1
Short stature, Lymphadenopathy, Increased circulating interleukin 8, Adipose tissue loss, Splenom... OMIM:256040
Congenital Short Bowel Syndrome
Lipoatrophy, Short stature ORPHA:2301
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Familial Multiple Lipomatosis
Increased adipose tissue, Lipodystrophy, Hyperlipidemia, Insulin resistance ORPHA:199276
Agammaglobulinemia 3, Autosomal Recessive
Failure to thrive, Agammaglobulinemia, Neutropenia OMIM:613501
Idiopathic Localized Lipodystrophy
Absence of subcutaneous fat, Lipoatrophy, Reduced subcutaneous adipose tissue ORPHA:90158
Centrifugal Lipodystrophy
Lack of facial subcutaneous fat, Lymphadenitis, Absence of subcutaneous fat, Reduced subcutaneous... ORPHA:90156
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Growth delay, Short stature, Atrophic scars, Lipodystrophy, Atypical scarring of skin, Flexion co... ORPHA:75496
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Umbilical hernia, Insulin-resistant diabetes mellitus at puberty, Reduced intrathor... OMIM:269700
Acquired Generalized Lipodystrophy
Hepatomegaly, Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid... ORPHA:79086
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Failure to thrive, Lipoatrophy, Intrauterine growth retardation ORPHA:261304
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Glucose intolerance, Anemia, Splenomegaly, Elevated hepatic tran... ORPHA:75563
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Small for gestational age, Lipodystrophy, Hypercholesterolemia, ... ORPHA:86816
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymp... OMIM:614470
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Increased circulating ferritin ... OMIM:603552
Hemochromatosis, Type 4
Hepatomegaly, Glucose intolerance, Impaired glucose tolerance, Anemia, Elevated transferrin satur... OMIM:606069
Immunodeficiency 55
Intrauterine growth retardation, Neutropenia, Short stature, Lymphadenopathy, Postnatal growth re... OMIM:617827
Sea-Blue Histiocyte Disease
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Progeroid Syndrome, Petty Type
Shagreen patch, Intrauterine growth retardation, Short stature, Failure to thrive, Reduced subcut... ORPHA:2963
Microcephalic Primordial Dwarfism, Montreal Type
Shagreen patch, Lipoatrophy, Severe short stature ORPHA:2617
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Achi... ORPHA:98855
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hepatosplenomegaly, Hypertriglyceridemia, Granulocytopenia, Hemophagocytosis OMIM:608898
Acrogeria
Lipoatrophy, Short stature ORPHA:2500
Alg3-Cdg
Decreased liver function, Lipodystrophy, Arthrogryposis multiplex congenita ORPHA:79321
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly OMIM:602079
Body Mass Index Quantitative Trait Locus 19
Obesity, Hyperlipidemia, Insulin resistance OMIM:617885
X-Linked Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Achi... ORPHA:98863
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Achi... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Achi... ORPHA:261
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Macrophage Activation Syndrome
Hepatomegaly, Increased circulating interleukin 6, Neutropenia, Lymphadenopathy, Hepatitis, Anemi... ORPHA:158061
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Intrauterine growth retardation, Short stature, Failure to thrive, Lipodystrophy, Abnormal subcut... ORPHA:357074
Cutis Laxa, Autosomal Recessive, Type Iia
Failure to thrive, Lipodystrophy, Intrauterine growth retardation, Inguinal hernia OMIM:219200
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Increased circulati... OMIM:202700
Werner Syndrome
Chondrocalcinosis, Type II diabetes mellitus, Short stature, Insulin resistance, Lipodystrophy, S... ORPHA:902
Osteomalacia, Sclerosing, With Cerebral Calcification
Generalized osteosclerosis, Osteomalacia, Increased bone mineral density OMIM:259660
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Short stature, Neutropenia, Decreased circulating total IgM OMIM:610798
Short Stature, Microcephaly, And Endocrine Dysfunction
Intrauterine growth retardation, Short stature, Insulin resistance, Abnormal circulating lipid co... OMIM:616541
Bloom Syndrome
Acute lymphoblastic leukemia, Intrauterine growth retardation, Abnormal proportion of CD8-positiv... ORPHA:125
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hepatomegaly, Elevated hepatic iron concentration, Large for gestational age, Cirrhosis, Flexion ... OMIM:300868
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Abnormality of the lymphatic system, Weight loss, Anemia, Abnormality of the lymph... ORPHA:54251
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Short stature, Hyperlipidemia, Insulin resistance, Generalized lipodystrophy, Delayed... ORPHA:90154
Glycogen Storage Disease Ixc
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Growth delay, Increased hepatic glycogen conten... OMIM:613027
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Neutropenia, Lymphadenopathy, Decreased circulating IgG level, Decreased circulatin... OMIM:308240
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Lipodystrophy OMIM:212112
Keppen-Lubinsky Syndrome
Failure to thrive, Absence of subcutaneous fat, Generalized lipodystrophy, Flexion contracture OMIM:614098
Hemochromatosis, Type 3
Increased serum iron, Neutropenia, Anemia, Elevated transferrin saturation, Cirrhosis, Increased ... OMIM:604250
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Hepatomegaly, Neutropenia, Normocytic anemia, Megaloblastic erythro... ORPHA:75564
Immunodeficiency 54
Hepatomegaly, Intrauterine growth retardation, Short stature, Lymphadenopathy, Failure to thrive,... OMIM:609981
Seckel Syndrome 10
Insulin resistance, Glucose intolerance, Impaired glucose tolerance, Glycosuria, Severe short sta... OMIM:617253
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Decreased circulating antibody level, Splenome... ORPHA:2585
Leishmaniasis
Hepatomegaly, Leukopenia, Elevated hepatic transaminase, Lymphadenopathy, Weight loss, Anemia, Sp... ORPHA:507
Placental Insufficiency
Proportionate short stature, Intrauterine growth retardation, Small for gestational age, Insulin ... ORPHA:439167
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Hepatocellular carcinoma, Elevated hepatic transaminas... ORPHA:158057
Mody
Pancreatic hypoplasia, Intrauterine growth retardation, Insulin-resistant diabetes mellitus, Hype... ORPHA:552
Whipple Disease
Hyponatremia, Hepatomegaly, Cachexia, Mediastinal lymphadenopathy, Insulin resistance, Anemia, Sp... ORPHA:3452
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
B lymphocytopenia, Neutropenia, Leukopenia, Partial absence of specific antibody response to Haem... OMIM:618986
Cimdag Syndrome
Microvesicular hepatic steatosis, Lipodystrophy, Hepatomegaly, Cholelithiasis OMIM:619273
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Hepatomegaly, Acute leukemia, Lymphadenopathy, Weight loss, Bone marrow hypocellula... ORPHA:3226
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Cellulitis, Neutrophilia, Short stature OMIM:266265
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Increased circulat... OMIM:606843
X-Linked Agammaglobulinemia
Agammaglobulinemia, Neutropenia, Short stature, Recurrent cutaneous abscess formation, Failure to... ORPHA:47
Rabson-Mendenhall Syndrome
Fasting hypoglycemia, Intrauterine growth retardation, Severe postnatal growth retardation, Hypok... ORPHA:769
Bangstad Syndrome
Insulin-resistant diabetes mellitus, Pancytopenia, Small for gestational age, Severe short stature OMIM:210740
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Increased circulating IgA level, Lymphadenopathy, Failure to thrive, Increased circu... ORPHA:169154
Immunodeficiency 46
Neutropenia, Failure to thrive, Decreased circulating antibody level, Anemia, Intermittent thromb... OMIM:616740
Fucosidosis
Failure to thrive, Hepatomegaly, Lipoatrophy, Abnormality of the gallbladder ORPHA:349
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Decreased circulating IgA level, De... OMIM:619281
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Failure to thrive, Lipodystrophy, Short stature OMIM:618922
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1
Vitiligo OMIM:606579
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Insulin-resistant diabetes mellitus, Hepatic steatosis, Hypertriglyceridemia, Severe short-limb d... ORPHA:436182
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Transcobalamin Deficiency
Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulat... ORPHA:859
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Neutropenia, Coombs-positive hemolytic anemia, Lymphadenopathy, Failure to thrive, Hepatitis, Ane... OMIM:304790
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Monocytosis, Lymphadenopathy, Failure to thrive, Neutrophilia, Hepatosplenomegaly, ... OMIM:619644
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Panniculitis, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceri... OMIM:618398
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Wolfram Syndrome, Mitochondrial Form
Neutropenia, Megaloblastic anemia, Sideroblastic anemia, Diabetes mellitus, Thrombocytopenia OMIM:598500
Silver-Russell Syndrome
Failure to thrive in infancy, Cachexia, Intrauterine growth retardation, Short stature, Insulin r... ORPHA:813
De Barsy Syndrome
Intrauterine growth retardation, Short stature, Failure to thrive, Lipodystrophy, Inguinal hernia... ORPHA:2962
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss, Hepatosplenomegaly, Panniculitis, Hemophagocytosis ORPHA:86884
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Neutropenia, Decreased circulating IgA level, Chronic hepatitis, Decreased circulat... OMIM:308230
Wolcott-Rallison Syndrome
Hyponatremia, Hepatomegaly, Neutropenia, Growth delay, Short stature, Iron deficiency anemia, Hyp... ORPHA:1667
Aicardi-Goutières Syndrome
Chronic lymphatic leukemia, Prolonged neonatal jaundice, Short stature, Elevated hepatic transami... ORPHA:51
Premature Aging Syndrome, Penttinen Type
Lipoatrophy OMIM:601812
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Acute myeloi... OMIM:619041
Fanconi Anemia, Complementation Group V
Neutropenia, Short stature, Anemia, Bone marrow hypocellularity, Elevated alpha-fetoprotein, Thro... OMIM:617243
Leprechaunism
Severe intrauterine growth retardation, Hepatomegaly, Fasting hypoglycemia, Hypokalemia, Insulin ... ORPHA:508
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Abnormality of serum cytokine level, Increased circulating interleukin 6, Neutropen... ORPHA:540
Becker Nevus Syndrome
Lipoatrophy ORPHA:64755
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... ORPHA:521
Monosomy 13Q34
Growth delay, Insulin resistance, Hepatic steatosis, Infantile hypercalcemia, Obesity ORPHA:96168
Diamond-Blackfan Anemia 8
Macrocytic anemia, Neutropenia, Growth delay, Increased mean corpuscular volume, Short stature OMIM:612563
Mandibuloacral Dysplasia Progeroid Syndrome
Hepatomegaly, Short stature, Glucose intolerance, Generalized lipodystrophy, Macrovesicular hepat... OMIM:619127
Marbach-Rustad Progeroid Syndrome
Intrauterine growth retardation, Growth delay, Short stature, Insulin resistance, Reduced subcuta... OMIM:619322
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Anemia, Increase... ORPHA:230
Immunodeficiency 21
Abnormal natural killer cell morphology, Neutropenia, Lymphopenia, Myeloid leukemia, Monocytopeni... OMIM:614172
Griscelli Syndrome Type 2
Hepatomegaly, Neutropenia, Hyperlipidemia, Lymphadenopathy, Splenomegaly, Pancytopenia, Hemophago... ORPHA:79477
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Lymphadenopathy, Abscess, Splenomegaly, I... OMIM:150550
Marfanoid-Progeroid-Lipodystrophy Syndrome
Intrauterine growth retardation, Absence of subcutaneous fat, Reduced subcutaneous adipose tissue... OMIM:616914
Ane Syndrome
Multiple joint contractures, Lipoatrophy, Delayed puberty, Short stature ORPHA:157954
Donohue Syndrome
Fasting hypoglycemia, Intrauterine growth retardation, Hepatic fibrosis, Hyperglycemia, Adipose t... OMIM:246200
Diamond-Blackfan Anemia 4
Macrocytic anemia, Neutropenia, Growth delay, Short stature, Erythroid hypoplasia, Reticulocytopenia OMIM:612527
Gitelman Syndrome
Maternal diabetes, Type II diabetes mellitus, Chondrocalcinosis, Hypokalemia, Insulin resistance,... ORPHA:358
Pancreatic Agenesis 1
Pancreatic hypoplasia, Intrauterine growth retardation, Failure to thrive, Diabetes mellitus, Exo... OMIM:260370
Keppen-Lubinsky Syndrome
Failure to thrive, Lipodystrophy, Congenital generalized lipodystrophy, Postnatal growth retardat... ORPHA:435628
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Elevated hepatic transaminase, Exocrine pancreatic insufficiency, Neutropenia, Short stature OMIM:618752
Dpagt1-Cdg
Hepatomegaly, Failure to thrive, Lipodystrophy, Anemia, Flexion contracture, Camptodactyly, Eleva... ORPHA:86309
Systemic Mastocytosis With Associated Hematologic Neoplasm
Leukocytosis, Chronic lymphatic leukemia, Hepatomegaly, Normocytic anemia, Lymphadenopathy, Normo... ORPHA:98849
Aregenerative Anemia
Neutropenia, Abnormal proportion of CD8-positive T cells, Lymphadenopathy, Abnormality of interle... ORPHA:101096
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hypoglycemia, Small for gestational age, Short stature, Insulin-resistant d... OMIM:262190
Adult-Onset Still Disease
Leukocytosis, Hepatomegaly, Abnormal circulating lipid concentration, Hepatitis, Bone marrow hypo... ORPHA:829
Anemia, Sideroblastic, 5
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia OMIM:619523
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin-resistant diabetes mellitus, Insulin resistance ORPHA:90301
Alg9-Cdg
Omphalocele, Hepatomegaly, Hepatic cysts, Lipodystrophy, Rhizomelia, Periportal fibrosis ORPHA:79328
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased basophi... OMIM:618394
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Fasting hypoglycemia, Hepatic fibrosis, Hepatocellular carcinoma, Short stature, El... ORPHA:79240
Wrinkly Skin Syndrome
Intrauterine growth retardation, Short stature, Failure to thrive, Lipodystrophy, Inguinal hernia... ORPHA:2834
Congenital Bile Acid Synthesis Defect Type 2
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Abnormal serum bil... ORPHA:79303
Aromatase Deficiency
Type II diabetes mellitus, Growth delay, Hyperlipidemia, Insulin resistance, Eunuchoid habitus, H... ORPHA:91
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Lipodystrophy ORPHA:300751
Bardet-Biedl Syndrome 1
Hepatic fibrosis, Insulin resistance, Truncal obesity, Abdominal obesity, Diabetes mellitus, Obes... OMIM:209900
Hereditary Elliptocytosis
Congenital hemolytic anemia, Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Stomatocyt... ORPHA:288
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Necrotizing Enterocolitis
Leukocytosis, Hyponatremia, Neutropenia, Small for gestational age, Peritonitis, Hyperglycemia, A... ORPHA:391673
Atypical Werner Syndrome
Type II diabetes mellitus, Chondrocalcinosis, Short stature, Insulin-resistant diabetes mellitus,... ORPHA:79474
X-Linked Lymphoproliferative Disease
Lymphadenopathy, Decreased circulating antibody level, Splenomegaly, Absent natural killer cells,... ORPHA:2442
Sweet Syndrome
Leukocytosis, Chronic lymphatic leukemia, Increased circulating interleukin 6, Sterile abscess, P... ORPHA:3243
Hemihyperplasia-Multiple Lipomatosis Syndrome
Abnormality of the lymphatic system, Lipoatrophy, Multiple lipomas ORPHA:276280
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia, Short stature, Flexion contracture, Insulin resistance ORPHA:90153
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Severe intrauterine growth retardation, Fasting hypoglycemia, Intrauterine growth retardation, Sm... ORPHA:96182
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Hemophagocytic Syndrome Associated With An Infection
Hyperproteinemia, Hepatomegaly, Neutropenia, Abnormal cytokine signaling, Elevated hepatic transa... ORPHA:158048
Dyskeratosis Congenita, Autosomal Recessive 5
Intrauterine growth retardation, Leukopenia, Decreased circulating antibody level, Bone marrow hy... OMIM:615190
Relapsing Fever
Leukocytosis, Leukopenia, Elevated circulating creatinine concentration, Anemia, Increased total ... ORPHA:91547
Celiac Disease, Susceptibility To, 1
Thrombocytosis, Macrocytic anemia, Short stature, Iron deficiency anemia, Decreased circulating I... OMIM:212750
Nestor-Guillermo Progeria Syndrome
Growth delay, Short stature, Failure to thrive, Lipoatrophy, Flexion contracture OMIM:614008
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... OMIM:608203
Cryptogenic Organizing Pneumonia
Leukocytosis, Weight loss, Elevated circulating C-reactive protein concentration, Neutrophilia ORPHA:1302
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Leukemia, Decreased circulating IgA level, Glucose intolerance, Impaired glucose tolerance, Joint... OMIM:208910
Obesity Due To Congenital Leptin Deficiency
Insulin-resistant diabetes mellitus, Decreased proportion of CD4-positive helper T cells, Hypertr... ORPHA:66628
Encephalocraniocutaneous Lipomatosis
Lipodystrophy, Multiple lipomas ORPHA:2396
Lmna-Related Cardiocutaneous Progeria Syndrome
Abnormality of the intrahepatic bile duct, Lipoatrophy, Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
Staphylococcal Necrotizing Pneumonia
Leukocytosis, Leukopenia, Neutrophilia, Diabetes mellitus, Elevated circulating C-reactive protei... ORPHA:36238
Obesity Due To Leptin Receptor Gene Deficiency
Insulin-resistant diabetes mellitus, Decreased proportion of CD4-positive helper T cells, Hypertr... ORPHA:179494
Pearson Syndrome
Neutropenia, Hypophosphatemia, Splenomegaly, Postnatal growth retardation, Diabetes mellitus, Pan... ORPHA:699
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Herpes Simplex Virus Encephalitis
Leukocytosis, Elevated circulating C-reactive protein concentration, Neutrophilia, Hyponatremia ORPHA:1930
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Hepatomegaly, Failure to thrive in infancy, Abscess, Splenomegaly, Neutrophilia, Elevated circula... OMIM:612852
Wiedemann-Rautenstrauch Syndrome
Intrauterine growth retardation, Short stature, Failure to thrive, Absence of subcutaneous fat, R... OMIM:264090
Thalidomide Embryopathy
Short stature, Insulin resistance ORPHA:3312
Psoriasis 14, Pustular
Leukocytosis, Cholangitis, Elevated circulating C-reactive protein concentration, Neutrophilia OMIM:614204
Leukocyte Adhesion Deficiency Type Ii
Leukocytosis, Abnormal isohemagglutinin level, Hepatomegaly, Scarring, Intrauterine growth retard... ORPHA:99843
Wiedemann-Rautenstrauch Syndrome
Severe intrauterine growth retardation, Type II diabetes mellitus, Intrauterine growth retardatio... ORPHA:3455
Pneumocystosis
Weight loss, Abnormal neutrophil count, Increased circulating antibody level ORPHA:723
Pmm2-Cdg
Multiple joint contractures, Hepatic fibrosis, Insulin resistance, Elevated hepatic transaminase,... ORPHA:79318
Neonatal Marfan Syndrome
Lipoatrophy, Small for gestational age, Flexion contracture ORPHA:284979
Hyper-Igd Syndrome
Leukocytosis, Increased circulating IgA level, Lymphadenopathy, Lymphadenitis, Splenomegaly, Neut... OMIM:260920
Idiopathic Hypereosinophilic Syndrome
Leukocytosis, Thrombocytosis, Cholangitis, Cervical lymphadenopathy, Portal fibrosis, Chronic hep... ORPHA:3260
Familial Mediterranean Fever
Leukocytosis, Hepatomegaly, Peritonitis, Elevated circulating amyloid A, Splenomegaly, Neutrophil... OMIM:249100
Hutchinson-Gilford Progeria Syndrome
Insulin resistance, Weight loss, Absence of subcutaneous fat, Severe failure to thrive, Delayed m... ORPHA:740
Steinert Myotonic Dystrophy
Insulin resistance, Cholelithiasis, Hypercholesterolemia, Diabetes mellitus, Elevated hepatic tra... ORPHA:273
Marburg Hemorrhagic Fever
Hyperamylasemia, Hypoglycemia, Leukopenia, Hypokalemia, Neutrophilia in presence of infection, El... ORPHA:99826
Alström Syndrome
Hyperlipidemia, Short stature, Hepatitis, Splenomegaly, Hepatosplenomegaly, Portal hypertension, ... ORPHA:64
Japanese Encephalitis
Hyponatremia, Neutrophilia, Increased circulating antibody level, Increased circulating IgM level... ORPHA:79139
Yellow Fever
Leukocytosis, Increased circulating interleukin 6, Elevated circulating creatine kinase concentra... ORPHA:99829
Crimean-Congo Hemorrhagic Fever
Leukocytosis, Hepatomegaly, Leukopenia, Elevated circulating creatine kinase concentration, Lymph... ORPHA:99827

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 Trib1

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 Trib1.

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

Title Journal IMPC Allele PubMed ID
Adipocyte-specific tribbles pseudokinase 1 regulates plasma adiponectin and plasma lipids in mice. Molecular metabolism (December 2021) Trib1tm1c(KOMP)Wtsi PMC8749272
Myeloid Tribbles 1 induces early atherosclerosis via enhanced foam cell expansion. Science advances (October 2019) Trib1tm1a(KOMP)Wtsi PMC6821468

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MGI Allele Allele Type Produced
Trib1tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Trib1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Trib1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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