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Gene: Sdc2 MGI:1349165

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Gene Summary

Name:
syndecan 2
Synonyms:
fibroglycan,  4833414L08Rik,  Hspg1,  Synd2

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
decreased red blood cell distribution width Sdc2tm1b(KOMP)Wtsi HOM   Early adult 1.87×10-05
abnormal coat/hair pigmentation Sdc2tm1b(KOMP)Wtsi HOM Early adult 3.78×10-08
decreased total retina thickness Sdc2tm1b(KOMP)Wtsi HOM   Early adult 1.85×10-06
abnormal lens morphology Sdc2tm1b(KOMP)Wtsi HOM   Early adult 3.07×10-08
increased circulating triglyceride level Sdc2tm1b(KOMP)Wtsi HOM Early adult 3.85×10-07
aorta stenosis Sdc2tm1b(KOMP)Wtsi HOM Early adult 4.91×10-05

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
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain 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)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Chest bone N/A heterozygote 0.0% (0 of 2)
Colon N/A heterozygote 0.0% (0 of 2)
Cranium N/A heterozygote 100% (2 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote Not available
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hindlimb 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)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 50% (1 of 2)
Main olfactory bulb N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote Not available
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote Not available
Oviduct N/A heterozygote Not available
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote Not available
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)
Prostate gland N/A heterozygote Not available
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin 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 pyloric region 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)
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 50% (1 of 2)
Testis N/A heterozygote 50% (1 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)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote Not available
Vagina N/A heterozygote Not available
Vas deferens N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood
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%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
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 lymph node
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%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
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%
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%
No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Electrocardiogram (ECG)

Waveform Image

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Adult LacZ

LacZ Images Wholemount

5 Images

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Human diseases caused by Sdc2 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 Sdc2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypoalphalipoproteinemia, Primary, 1
Premature coronary artery atherosclerosis, Decreased HDL cholesterol concentration, Hypertriglyce... OMIM:604091
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Type IV atherosclerotic lesion, Hy... OMIM:144300
Lecithin:Cholesterol Acyltransferase Deficiency
Corneal arcus, Hypertriglyceridemia, Foam cells, Decreased HDL cholesterol concentration, Hemolyt... OMIM:245900
Fish-Eye Disease
Increased LDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent... OMIM:136120
Woolly Hair
Cataract, Sparse lateral eyebrow, Fine hair, Sparse body hair, Abnormal pupil morphology, Woolly ... ORPHA:170
Niemann-Pick Disease, Type B
Abnormal macular morphology, Sea-blue histiocytosis, Decreased HDL cholesterol concentration, Foa... OMIM:607616
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Tietz Syndrome
Hypopigmentation of the skin, Abnormal anterior chamber morphology, White eyebrow, Abnormality of... ORPHA:42665
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Griscelli Syndrome, Type 1
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large... OMIM:214450
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Atherosclerosis OMIM:603813
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of the fundus, Macular hypoplasia, Blue irides, Albinism, Hypopigmentation of hair OMIM:606574
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus, Decreased HDL cholesterol concentration, Premature coronary artery ather... OMIM:618463
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu... ORPHA:766
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased circulating iron concentration, Macular edema, Peripheral retinal atrophy, Leukopenia, ... OMIM:616959
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypotriglyceridemia, Premature coronary artery atherosclerosis, Hypocholesterolemia, Decreased ci... OMIM:620058
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Hepatosplenomegaly, Hypertriglyceridemia, Anemia, Granulocytopenia OMIM:608898
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Premature coronary artery atherosclerosis, Hypertriglyce... OMIM:610947
Hypertriglyceridemia 1
Precocious atherosclerosis, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia
Increased LDL cholesterol concentration, Fair hair, Developmental cataract OMIM:618808
Lcat Deficiency
Premature coronary artery atherosclerosis, Atherosclerosis, Hypertriglyceridemia, Corneal opacity... ORPHA:650
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis OMIM:603529
Morbid Obesity And Spermatogenic Failure
Premature coronary artery atherosclerosis, Decreased HDL cholesterol concentration, Increased LDL... OMIM:615703
Glycogen Storage Disease Vi
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Yemenite Deaf-Blind Hypopigmentation Syndrome
Microcornea, Chorioretinal coloboma, White forelock, Numerous pigmented freckles, Iris coloboma, ... OMIM:601706
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Fava bean-induced hemolytic anemia, Hyperbilirubinemia, Reduced erythrocyte glutathione... OMIM:618660
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin, Hypopigmentation of the fundus OMIM:606952
Oculocutaneous Albinism, Type Viii
Chorioretinal hypopigmentation, Hypopigmentation of the skin, Hypoplasia of the fovea, Iris trans... OMIM:619165
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hypertriglyceridemia OMIM:619175
Griscelli Syndrome Type 1
Iris hypopigmentation, White hair, Premature graying of hair, Partial albinism, Hyperlipidemia, R... ORPHA:79476
Anemia, Congenital Dyserythropoietic, Type Ib
Small nail, Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis... OMIM:615631
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Elevated circulating hepcidin concentration, Hypochromic microcytic anemia, Aniso... OMIM:206200
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemi... OMIM:603552
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi... OMIM:619947
Abdominal Obesity-Metabolic Syndrome 4
Increased LDL cholesterol concentration, Hypertriglyceridemia, Coronary artery atherosclerosis, D... OMIM:618620
Hypobetalipoproteinemia, Familial, 1
Hypocholesterolemia, Acanthocytosis, Hypertriglyceridemia, Retinal degeneration, Decreased LDL ch... OMIM:615558
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... ORPHA:411527
Aortic Aneurysm, Familial Thoracic 4
Aortic dissection, Thoracic aortic aneurysm, Anterior cerebral artery stenosis, Coronary artery a... OMIM:132900
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Increased HDL cholesterol concentration, Premature coronary artery atherosclerosis, Hypertriglyce... ORPHA:140905
Sitosterolemia 2
Hypercholesterolemia, Premature coronary artery atherosclerosis, Elevated circulating sitosterol ... OMIM:618666
Tangier Disease
Atherosclerosis, Decreased HDL cholesterol concentration, Nail dystrophy, Splenomegaly, Coronary ... OMIM:205400
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Alopecia, Aplasia/Hypoplasia of the iris, Corneal opacity, Hypopigmentation of hair, Pe... ORPHA:1067
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the skin, Hypopigmentation of the fundus, Freckles in sun-exposed areas, Hypo... OMIM:203200
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Retinal detachment, Hypertriglyceridemia ORPHA:436182
Hidrotic Ectodermal Dysplasia
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... ORPHA:189
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair, Neutropenia ORPHA:90023
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Griscelli Syndrome, Type 2
Silver-gray hair, Hypopigmentation of the skin, Hemophagocytosis, Melanin pigment aggregation in ... OMIM:607624
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... OMIM:305390
Aortic Aneurysm, Familial Thoracic 6
Premature coronary artery atherosclerosis, Moyamoya phenomenon, Iris flocculi, Aortic aneurysm, D... OMIM:611788
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Corneal arcus, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Choroidal neovascularization, Cataract, Retinal thinning, Epir... ORPHA:179
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... OMIM:193235
White Forelock With Malformations
White forelock, Poliosis, Prominent veins on trunk OMIM:277740
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Splenome... OMIM:616860
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Peripheral arterial stenosis, Papilledema, Retinal arteriolar constriction OMIM:124950
Waardenburg Syndrome, Type 2B
Heterochromia iridis, White forelock, Premature graying of hair OMIM:600193
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Retinal neovascularizati... OMIM:608850
Rh-Null, Amorph Type
Stomatocytosis, Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Hemolytic anemia OMIM:617970
Uncombable Hair Syndrome
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Exudative Vitreoretinopathy 1
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... OMIM:133780
Familial Exudative Vitreoretinopathy
Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional retinal detac... ORPHA:891
Neuroectodermal Melanolysosomal Disease
Optic atrophy, Hypopigmentation of the skin, Abnormal optic nerve morphology, Premature graying o... ORPHA:33445
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, White forelock, Abnormality of the pulmona... ORPHA:895
Cholesteryl Ester Storage Disease
Arteriosclerosis, Hypercholesterolemia, Splenomegaly, Hypertriglyceridemia ORPHA:75234
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Aortic root aneurysm, Aortic dissection, Mucoid extracellular... ORPHA:229
Vogt-Koyanagi-Harada Disease
Cataract, Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Vit... ORPHA:3437
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,... OMIM:613101
Coats Disease
Cataract, Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Abnormal retinal vascular ... ORPHA:190
Dysbetalipoproteinemia
Premature coronary artery atherosclerosis, Decreased HDL cholesterol concentration, Aortic athero... ORPHA:412
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte morphology, Macrocytic anemia, A... ORPHA:86841
Retinitis Pigmentosa 84
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... OMIM:618220
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Optic ... ORPHA:79433
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Hypocalcemia, Splenomegaly, Hirsutism, Hypercholesterolemia, Hypertriglycerid... OMIM:612526
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... OMIM:613265
Waardenburg Syndrome, Type 2A
Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc... OMIM:193510
Werner Syndrome
Cataract, Alopecia of scalp, Retinal degeneration, Premature arteriosclerosis, Hypertriglyceridem... OMIM:277700
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis, ... OMIM:224120
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ... ORPHA:79435
Sitosterolemia 1
Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Xanthelasma, Reticulocytosis, Splen... OMIM:210250
Tangier Disease
Coronary artery stenosis, Hypocholesterolemia, Hepatosplenomegaly, Nail dystrophy, Hypertriglycer... ORPHA:31150
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation, Vitreous floaters, Retinal detachment, Peripheral vitreoretinal degen... OMIM:614292
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal retinal morphology ORPHA:2786
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ... OMIM:617319
Eales Disease
Epistaxis, Macular edema, Retinal thinning, Peripheral retinal neovascularization, Vitritis, Epir... ORPHA:40923
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Retin... OMIM:309300
Hypertriglyceridemia, Transient Infantile
Splenomegaly, Hypertriglyceridemia OMIM:614480
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... OMIM:616516
Hyperlipoproteinemia, Type Id
Premature coronary artery atherosclerosis, Increased circulating chylomicron concentration, Splen... OMIM:615947
Griscelli Syndrome Type 2
Iris hypopigmentation, Hemophagocytosis, Premature graying of hair, Partial albinism, Pancytopeni... ORPHA:79477
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane, Retinal detachment OMIM:620253
Congenital Dyserythropoietic Anemia Type Iii
Increased circulating iron concentration, Increased mean corpuscular volume, Increased total iron... ORPHA:98870
Woolly Hair Nevus
Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Curl... ORPHA:79414
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract, Retinal dots, Optically empty vitreous, Retinal detachment, Snowflake ... OMIM:193230
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Sp... OMIM:300635
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia, Prominent superficial veins, Coronary artery atherosclerosis OMIM:608600
Monilethrix
Cataract, Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Slow-growing hair, Brittle hai... ORPHA:573
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Retinal vein occlusion, Phakodo... OMIM:177650
Factor V Excess With Spontaneous Thrombosis
Peripheral arterial stenosis OMIM:134400
Oculocutaneous Albinism Type 1
Iris hypopigmentation, Generalized hypopigmentation of hair, Optic nerve misrouting, Hypoplasia o... ORPHA:352731
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia OMIM:615924
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Absent circulating B cells, Splenomegaly, Hypertriglyceridemia OMIM:620282
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hemophagocytosis, Increased circulating ferritin concentration... ORPHA:158057
Ermine Phenotype
Spotty hyperpigmentation, White hair, Vitiligo, White eyebrow, White eyelashes, Abnormal iris pig... OMIM:227010
Waardenburg-Shah Syndrome
Abnormal macular morphology, Premature graying of hair, Abnormal eyebrow morphology, White forelo... ORPHA:897
Albinism, Oculocutaneous, Type Vi
Hypoplasia of the fovea, Fair hair, Generalized hypopigmentation OMIM:113750
Protoporphyria, Erythropoietic, 1
Hemolytic anemia, Hypertriglyceridemia OMIM:177000
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Splenomegaly, Lipemia retinalis, Hypercholestero... OMIM:207750
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Hyper... OMIM:618398
Lipase Deficiency, Combined
Hypertriglyceridemia OMIM:246650
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Splenomegaly, Hyperuricemia, Hypertriglyceridemia OMIM:306000
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Elliptocytosis, Macrocytic anemia, Anisocytosis, Neutropenia, P... OMIM:300835
Hyperlipoproteinemia, Type I
Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid... OMIM:238600
Piebald Trait-Neurologic Defects Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochrom... ORPHA:2885
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat... ORPHA:79432
Immunodeficiency 114, Folate-Responsive
Increased circulating ferritin concentration, Lymphopenia, Splenomegaly, Megaloblastic anemia, Th... OMIM:620603
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Aortic atherosclerotic lesion, Increased LDL cholesterol concentration, Coronary artery atheroscl... ORPHA:209902
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Coronary artery atherosclerosis, Hyperchole... OMIM:144010
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Hemophag... OMIM:619802
Aortic Aneurysm, Familial Thoracic 7
Aortic rupture, Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection OMIM:613780
Rh Deficiency Syndrome
Stomatocytosis, Hepatosplenomegaly, Hyperbilirubinemia, Reticulocytosis, Macrocytic anemia, Aniso... ORPHA:71275
Lmna-Related Cardiocutaneous Progeria Syndrome
Alopecia universalis, Aortic root aneurysm, Premature graying of hair, Aortic atherosclerotic les... ORPHA:363618
Cholesteryl Ester Storage Disease
Hepatic foam cells, Decreased HDL cholesterol concentration, Hepatosplenomegaly, Hypersplenism, L... OMIM:278000
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hepatosplenomegaly, Hyperbilirubinemia, Increased LDL cholesterol concentration, Hyperthreoninemi... ORPHA:247598
Lipodystrophy, Familial Partial, Type 4
Stroke, Hypertriglyceridemia OMIM:613877
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Retinal detachment, Iris transillumination defect, Pe... OMIM:225200
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Retinal exudate, Cataract, Nuclear cataract, Posterior vitreous deta... OMIM:616468
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Hypopigmentation of the skin, Abnormal optic nerve morphology, Melanocytic... ORPHA:79434
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... OMIM:267700
Waardenburg Syndrome, Type 4A
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... OMIM:277580
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Anemia, Arterial stenosis, Cerebral artery atherosclerosis, Coronary artery atherosclerosis ORPHA:1192
Aortic Aneurysm, Familial Thoracic 8
Abdominal aortic aneurysm, Coronary artery aneurysm, Descending aortic dissection, Ascending aort... OMIM:615436
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Hyperuricemia, Hirsutism, Prominent superficial veins, Decreased HDL choles... OMIM:604367
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia ORPHA:71529
Abdominal Obesity-Metabolic Syndrome 3
Coronary artery stenosis, Increased LDL cholesterol concentration, Stroke, Hypercholesterolemia, ... OMIM:615812
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta, Macular coloboma, Retinal coloboma OMIM:107550
Familial Partial Lipodystrophy, Dunnigan Type
Atherosclerosis, Splenomegaly, Coronary artery atherosclerosis, Generalized hirsutism, Hypertrigl... ORPHA:2348
Rajab Interstitial Lung Disease With Brain Calcifications 2
Microcytic anemia, Hepatosplenomegaly, Hypoalbuminemia, Hypertriglyceridemia OMIM:619013
Pparg-Related Familial Partial Lipodystrophy
Prominent veins on trunk, Atherosclerosis, Splenomegaly, Hyperuricemia, Coronary artery atheroscl... ORPHA:79083
Hypotrichosis 8
Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ... OMIM:278150
Elejalde Neuroectodermal Melanolysosomal Syndrome
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:256710
Vitreoretinochoroidopathy
Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretinal pigmentatio... OMIM:193220
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Phace Association
Optic atrophy, Arterial stenosis, Coarctation of aorta, Aortic aneurysm, Anomalous branches of in... OMIM:606519
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia, Hypertriglyceridemia OMIM:617885
Smith-Magenis Syndrome
Hypercholesterolemia, Retinal detachment, Hypertriglyceridemia, Synophrys OMIM:182290
Gaisböck Syndrome
Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he... ORPHA:90041
Methionine Malabsorption Syndrome
Positive ferric chloride test, Blue irides, White hair OMIM:250900
Macrophage Activation Syndrome
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hy... ORPHA:158061
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Anisocytos... OMIM:301310
Congenital Generalized Lipodystrophy
Hypertrichosis, Low anterior hairline, Low posterior hairline, Hypercholesterolemia, Prominent su... ORPHA:528
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi... OMIM:605814
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Increased circulating ferritin concentration, Hypertriglycerid... OMIM:619313
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia ORPHA:280356
Supravalvular Aortic Stenosis
Peripheral arterial stenosis, Pulmonary artery stenosis OMIM:185500
Piebaldism
Hypopigmented skin patches, White forelock, Heterochromia iridis, White eyebrow, White eyelashes,... ORPHA:2884
Hypercholesterolemia, Familial, 1
Xanthelasma, Increased LDL cholesterol concentration, Corneal arcus, Coronary artery atherosclerosis OMIM:143890
Chédiak-Higashi Syndrome
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Hypoproteinemia, Hypopigmentatio... ORPHA:167
Oculocutaneous Albinism Type 1A
Iris hypopigmentation, Hypopigmentation of the skin, Abnormal optic nerve morphology, Ocular albi... ORPHA:79431
Waardenburg Syndrome Type 1
Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Thic... ORPHA:894
Takayasu Arteritis
Vasculitis, Arterial stenosis, Retinopathy, Vascular dilatation, Anemia, Ascending tubular aorta ... ORPHA:3287
Severe Neurodegenerative Syndrome With Lipodystrophy
Generalized hirsutism, Hypertriglyceridemia ORPHA:363400
Orotic Aciduria
Folate-unresponsive megaloblastic anemia, Anisocytosis, Hypochromia, Poikilocytosis, Pyrimidine-r... OMIM:258900
Hermansky-Pudlak Syndrome 3
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal number of dense granules OMIM:614072
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... OMIM:603553
Apolipoprotein A-I Deficiency
Premature coronary artery atherosclerosis, Abnormal circulating lipid concentration, Atherosclero... ORPHA:425
Albinism, Oculocutaneous, Type Ia
White hair, Ocular albinism, Astigmatism, Hypoplasia of the fovea, Absent skin pigmentation, Blue... OMIM:203100
Ermine Phenotype
Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Ocular albinism, ... ORPHA:999
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Atherosclerosis, Premature graying of hair, Decreased HDL cholesterol concentration, Splenomegaly... ORPHA:280365
Mandibuloacral Dysplasia
Increased circulating free fatty acid level, Alopecia, Hypoplastic fingernail, Hypercholesterolem... ORPHA:2457
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia ORPHA:1068
H Syndrome
Alopecia, Histiocytosis, Hypertrichosis, Microcytic anemia, Abnormal eyebrow morphology, Hepatosp... ORPHA:168569
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Peripheral arterial stenosis, Distichiasis, Patent ductus arteriosus, Varicose veins OMIM:126320
Smith-Magenis Syndrome
Microcornea, Hypercholesterolemia, Retinal detachment, Hypertriglyceridemia, Synophrys ORPHA:819
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:177910
Alagille Syndrome 1
Cataract, Pigmentary retinopathy, Microcornea, Band keratopathy, Peripheral pulmonary artery sten... OMIM:118450
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Neutral Lipid Storage Disease With Ichthyosis
Alopecia, Abnormal circulating creatine kinase concentration, Subcapsular cataract, Hypertriglyce... ORPHA:98907
Citrullinemia, Type Ii, Adult-Onset
Elevated plasma citrulline, Hyperammonemia, Hyperargininemia, Hypertriglyceridemia OMIM:603471
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231226
Focal Segmental Glomerulosclerosis 1
Anemia, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Griscelli Syndrome
Iris hypopigmentation, Silver-gray hair, Hypopigmented skin patches, White hair, Premature grayin... ORPHA:381
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Descending thoracic aorta aneurysm, Abnormality iris morphology, Aortic root aneurysm, Mucoid ext... ORPHA:91387
Congenital Erythropoietic Porphyria
Facial hypertrichosis, Hypopigmentation of the skin, Hemolytic anemia, Leukopenia, Erythroid hype... ORPHA:79277
Piebald Trait
Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,... OMIM:172800
Grange Syndrome
Arterial stenosis, Patent ductus arteriosus ORPHA:79094
Hermansky-Pudlak Syndrome 11
Albinism, Fair hair, Ocular albinism, Melanocytic nevus, Reduced platelet dense granules, Hypopla... OMIM:619172
Alstrom Syndrome
Alopecia, Pigmentary retinopathy, Atherosclerosis, Decreased HDL cholesterol concentration, Atten... OMIM:203800
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Reni Syndrome
Hypoalbuminemia, Lymphopenia, Hyperpigmentation of the skin, Hypertriglyceridemia OMIM:617575
Chediak-Higashi Syndrome
Iris hypopigmentation, Silver-gray hair, Hypopigmentation of the skin, Hemophagocytosis, Ocular a... OMIM:214500
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Classic Phenylketonuria
Cataract, Hypopigmentation of hair, Hypopigmentation of the skin, Hyperphenylalaninemia ORPHA:79254
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hy... ORPHA:540
Seckel Syndrome 10
Abdominal aortic aneurysm, Elevated hemoglobin A1c, Retinal detachment, Hypertriglyceridemia OMIM:617253
Waardenburg Syndrome, Type 2E
Iris hypopigmentation, Hypopigmentation of the fundus, Hypopigmented skin patches, Hypoplasia of ... OMIM:611584
Sneddon Syndrome
Arterial stenosis, Intracranial hemorrhage ORPHA:820
Norrie Disease
Optic atrophy, Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Buphthalmos... OMIM:310600
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Microcornea, Hypopigmented skin patches, Hyperpigmentation of the skin, Mu... ORPHA:3214
Hyperferritinemia With Or Without Cataract
Cataract, Nuclear cataract, Increased circulating ferritin concentration, Pulverulent cataract, A... OMIM:600886
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Sympathetic Ophthalmia
Cataract, Macular edema, Anterior chamber cells, Posterior synechiae of the anterior chamber, Alo... ORPHA:79098
Citrullinemia Type Ii
Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Acute hyperammonemia, H... ORPHA:247585
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Abnormal T cell sub... ORPHA:158048
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Splenomegaly, Thrombocytopenia, Hypertriglyceridemia, Anemia, Conjunctivitis OMIM:617591
Atypical Werner Syndrome
Premature graying of hair, Abnormal hair morphology, Sparse body hair, White forelock, Premature ... ORPHA:79474
Lipodystrophy, Familial Partial, Type 5
Increased C-peptide level, Hypertriglyceridemia OMIM:615238
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Lysosomal Acid Lipase Deficiency
Hyperkalemia, Hepatosplenomegaly, Hypersplenism, Xanthelasma, Coronary artery atherosclerosis, St... ORPHA:275761
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... ORPHA:567548
Brittle Cornea Syndrome 1
Keratoconus, Abnormal cornea morphology, Decreased corneal thickness, Red hair, Keratoglobus OMIM:229200
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:411515
Squalene Synthase Deficiency
Hypocholesterolemia, Abnormality of hair pigmentation, Decreased LDL cholesterol concentration, E... OMIM:618156
Obesity And Hypopigmentation
Red hair OMIM:620195
Arterial Calcification, Generalized, Of Infancy, 1
Arterial stenosis, Carotid artery calcification, Renal artery stenosis, Hypophosphatemic rickets,... OMIM:208000
Microtriplication 11Q24.1
Keratoconus, Long eyelashes, Thick eyebrow, Hyperlipidemia, Synophrys ORPHA:289522
Classical-Like Ehlers-Danlos Syndrome Type 2
Alopecia, Aortic root aneurysm, Prominent veins on trunk, Astigmatism, Hypertriglyceridemia, Kera... ORPHA:536532
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Arterial stenosis, Ischemic stroke, Stroke, Cerebral hemorrhage, Lacun... ORPHA:136
Lipodystrophy, Congenital Generalized, Type 4
Splenomegaly, Elevated circulating creatine kinase concentration, Hirsutism, Vascular dilatation,... OMIM:613327
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Anisocytosis OMIM:604273
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Splenomegaly, Conjugated hyperbilirubinemia OMIM:214900
Pseudoxanthoma Elasticum, Forme Fruste
Macular degeneration, Medial calcification of large arteries, Angioid streaks of the fundus, Medi... OMIM:177850
Lipodystrophy, Familial Partial, Type 6
Hypopigmentation of the skin, Hyperlipidemia, Abnormal circulating lipid concentration, Elevated ... OMIM:615980
Lipodystrophy, Familial Partial, Type 2
Atherosclerosis, Decreased HDL cholesterol concentration, Hirsutism, Hypercholesterolemia, Promin... OMIM:151660
Hoyeraal-Hreidarsson Syndrome
Generalized hypopigmentation of hair, Premature graying of hair, Generalized hyperpigmentation, N... ORPHA:3322
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Nail dystrophy, Hypercholesterolemia, Small nail, Hypertriglyceridemia OMIM:610644
Glycogen Storage Disease Ixc
Splenomegaly, Hypertriglyceridemia OMIM:613027
Methanol Poisoning
Abnormal optic nerve morphology, Hyperlipidemia, Inflammatory arteriopathy, Cerebral hemorrhage, ... ORPHA:31825
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Anisocytosis, Poikilocytosis, ... OMIM:618278
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Macular edema, Gastrointestinal hemorrhage, Cardiomyopathy, Punctate vasculitis skin lesions, Tel... ORPHA:247691
Homozygous Familial Hypercholesterolemia
Premature coronary artery atherosclerosis, Aortic atherosclerotic lesion, Increased LDL cholester... ORPHA:391665
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:277460
Oculocerebral Hypopigmentation Syndrome, Preus Type
Iris hypopigmentation, Cataract, Hypochromic anemia, White hair, Ocular albinism, Generalized hyp... ORPHA:2720
Acquired Hypertrichosis Lanuginosa
Generalized hirsutism, Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair ORPHA:2221
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Splenomegaly, Elevated circulating creatine kinase concentration, Abnormal erythrocyte enzyme con... ORPHA:264580
Brittle Cornea Syndrome
Corneal scarring, Abnormality of hair pigmentation, Retinal detachment, Decreased corneal thickne... ORPHA:90354
Ataxia-Telangiectasia
Lymphopenia, Hypopigmentation of hair, Multiple cafe-au-lait spots, Premature graying of hair ORPHA:100
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Hype... ORPHA:98855
Schimke Immuno-Osseous Dysplasia
Abnormal proportion of naive CD4 T cells, Atherosclerosis, Multiple lentigines, Arteriosclerosis ... ORPHA:1830
Familial Chylomicronemia Syndrome
Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipidemia, Lipemia reti... ORPHA:444490
Obesity Due To Congenital Leptin Deficiency
Decreased proportion of CD4-positive helper T cells, Hypertriglyceridemia ORPHA:66628
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Hypopigmented skin patches, Fine hair, Abnormal cerebral vascular morphology, Arterial stenosis, ... ORPHA:2637
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Alopecia, Transient ischemic attack, Stroke, Carotid artery stenosis, Arteriosclerosis of small c... OMIM:600142
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Splenomegaly, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertrig... ORPHA:79240
Obesity Due To Leptin Receptor Gene Deficiency
Decreased proportion of CD4-positive helper T cells, Hypertriglyceridemia ORPHA:179494
Lysinuric Protein Intolerance
Abnormal circulating serine concentration, Hemophagocytosis, Increased circulating ferritin conce... ORPHA:470
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hypertriglyceridemia OMIM:615381
X-Linked Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Hype... ORPHA:98863
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Hype... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Hype... ORPHA:261
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia ORPHA:79085
Chronic Visceral Acid Sphingomyelinase Deficiency
Abnormal circulating lipid concentration, Cherry red spot of the macula, Decreased HDL cholestero... ORPHA:77293
Acrodysostosis 2 With Or Without Hormone Resistance
Fair hair, Red hair, Blue irides OMIM:614613
Obesity Due To Prohormone Convertase I Deficiency
Red hair, Hypopigmentation of the skin ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Red hair, Hypopigmentation of the skin ORPHA:71526
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Acquired Generalized Lipodystrophy
Generalized hirsutism, Generalized hyperpigmentation, Abnormal circulating lipid concentration, H... ORPHA:79086
Waardenburg Syndrome
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, White foreloc... ORPHA:3440
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair, Stroke-like episode ORPHA:70472
Hermansky-Pudlak Syndrome 1
Hypopigmentation of the skin, Ocular albinism, Melanocytic nevus, Freckles in sun-exposed areas, ... OMIM:203300
Glycogen Storage Disease Iii
Hyperlipidemia, Elevated circulating creatine kinase concentration OMIM:232400
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia ORPHA:364
Lipe-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:435660
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia ORPHA:435651
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Hyperlipidemia,... OMIM:235400
Syndromic Diarrhea
Peripheral pulmonary artery stenosis, Trichorrhexis nodosa, Tetralogy of Fallot, Lymphopenia, Thr... ORPHA:84064
Hermansky-Pudlak Syndrome
Iris hypopigmentation, Cataract, Hypopigmentation of the skin, Abnormal optic nerve morphology, O... ORPHA:79430
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Cataract, Ocular albinism, Choroideremia, Corneal opacity, Anemia, Hypopig... ORPHA:2719
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Mildly elevated creatine kinase OMIM:604484
Lipodystrophy, Familial Partial, Type 7
Cataract, Pigmentary retinopathy, Pulmonary arteriovenous malformation, Hypercholesterolemia, Dev... OMIM:606721
Waardenburg Syndrome, Type 1
Hypopigmentation of the fundus, Premature graying of hair, Partial albinism, Thick eyebrow, White... OMIM:193500
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Polysplenia, Splenomegaly, Hypertriglyceridemia, Macular atrophy, Anemia OMIM:619418
Pseudoxanthoma Elasticum
Abnormal cerebral vascular morphology, Atherosclerosis, Arterial stenosis, Angioid streaks of the... ORPHA:758
Proteasome-Associated Autoinflammatory Syndrome 1
Hypertrichosis, Premature graying of hair, Microcytic anemia, Decreased HDL cholesterol concentra... OMIM:256040
Vici Syndrome
Cataract, Hypopigmentation of the skin, Hypopigmentation of the fundus, Ocular albinism, Lymphope... OMIM:242840
Waardenburg Syndrome, Type 4C
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... OMIM:613266
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair, Hyperbilirubinemia, Decreased circulating cortisol level OMIM:609734
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of hair, Hypopigmentation of the skin, Cafe-au-lait spot, Splenomegaly OMIM:618541
Aortic Aneurysm, Familial Thoracic 10
Aortic root aneurysm, Aortic arch aneurysm, Abdominal aortic aneurysm, Coronary artery atheroscle... OMIM:617168
Prader-Willi Syndrome
Decreased HDL cholesterol concentration, Frontal upsweep of hair, Hypercholesterolemia, Generaliz... OMIM:176270
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Splenomegaly, Abnormality of skin pigmentation ORPHA:1414
Cutis Marmorata Telangiectatica Congenita
Arteriovenous malformation, Arterial stenosis, Leukocoria, Multiple cafe-au-lait spots, Retinal d... ORPHA:1556
Mandibuloacral Dysplasia With Type A Lipodystrophy
Cataract, Alopecia, Breast aplasia, Abnormal eyebrow morphology, Hyperlipidemia, Absent eyelashes... ORPHA:90153
Xp21 Deletion Syndrome
Elevated circulating creatine kinase concentration, Hypertriglyceridemia ORPHA:261476
Fanconi-Bickel Syndrome
Hypophosphatemia, Hypertriglyceridemia ORPHA:2088
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Patent ductus arteriosus, Hypercalcemia, Astigmatism, Hypertriglyceridemia ORPHA:369837
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Xanthelasma, Hyperlipidemia, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Anemia, A... ORPHA:79259
Arterial Tortuosity Syndrome
Keratoconus, Aortic root aneurysm, Aortic dissection, Arterial stenosis, Pulmonary artery stenosi... ORPHA:3342
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:98795
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia OMIM:618183
Immunodeficiency 87 And Autoimmunity
Lymphopenia, Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Decreased proportion of CD4-po... OMIM:619573
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Mottled pigmentation, Hyperlipidemia, Prominent superficial veins, Brittle hair, Sparse... OMIM:608612
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hyperlipidemia ORPHA:369
Carney Complex, Type 1
Multiple lentigines, Hirsutism, Freckling, Red hair, Profuse pigmented skin lesions OMIM:160980
Neurofibromatosis Type 1
Cataract, Inguinal freckling, Axillary freckling, Chronic myelogenous leukemia, Hypopigmented ski... ORPHA:636
Muenke Syndrome
Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches ORPHA:53271
Hypohidrotic Ectodermal Dysplasia
Generalized hypopigmentation of hair, Irregular hyperpigmentation, Breast aplasia, Trichorrhexis ... ORPHA:238468
Hyperoxaluria, Primary, Type I
Optic atrophy, Choroidal neovascularization, Retinal crystals, Hyperoxaluria, Retinopathy, Periph... OMIM:259900
Angelman Syndrome Due To A Point Mutation
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:411511
Aorta Coarctation
Tetralogy of Fallot, Coronary artery atherosclerosis, Stroke, Persistent left superior vena cava,... ORPHA:1457
Familial Thrombocytosis
Chronic myelogenous leukemia, Transient ischemic attack, Splenomegaly, Acute myeloid leukemia, Th... ORPHA:71493
Primary Triglyceride Deposit Cardiomyovasculopathy
Coronary artery stenosis, Hyperlipidemia, Splenomegaly, Renal artery atherosclerosis, Coronary ar... ORPHA:565612
Wiedemann-Rautenstrauch Syndrome
Cataract, Sparse eyebrow, Alopecia, Small nail, Prominent scalp veins, Alopecia of scalp, Sparse ... OMIM:264090
Menkes Disease
Sparse hair, Arterial stenosis, Intracranial hemorrhage, Venous insufficiency, Vascular dilatatio... ORPHA:565
Neutral Lipid Storage Disease With Myopathy
Elevated circulating creatine kinase concentration, Splenomegaly, Hypertriglyceridemia OMIM:610717
Mandibuloacral Dysplasia Progeroid Syndrome
Sparse eyebrow, Nail dystrophy, Hypertriglyceridemia, Elevated hemoglobin A1c, Sparse hair OMIM:619127
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Abnormal hair morphology, Hyperlipidemia, Nail dystrophy, Hyperpigmentation of the skin... ORPHA:90154
Ehlers-Danlos Syndrome, Classic-Like, 2
Aortic root aneurysm, Thin eyebrow, Low posterior hairline, Carotid artery stenosis, Prominent su... OMIM:618000
Bardet-Biedl Syndrome
Cataract, Decreased HDL cholesterol concentration, Astigmatism, Hypertriglyceridemia, Cone/cone-r... ORPHA:110
Hughes-Stovin Syndrome
Vasculitis, Pulmonary artery aneurysm, Arterial stenosis ORPHA:228116
Lipodystrophy, Congenital Generalized, Type 2
Elevated hemoglobin A1c, Hypertriglyceridemia, Splenomegaly, Hirsutism OMIM:269700
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia OMIM:256300
Wiedemann-Rautenstrauch Syndrome
Aplasia/Hypoplasia of the nails, Optic atrophy, Pigmentary retinopathy, Cataract, Optic disc hypo... ORPHA:3455
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Hyperlipidemia, Coronary artery atherosclerosis ORPHA:439232
Combined Deficiency Of Factor V And Factor Viii
Intracranial hemorrhage, Hyperlipidemia, Hyperuricemia ORPHA:35909
19P13.12 Microdeletion Syndrome
Generalized hirsutism, Hyperlipidemia, Synophrys ORPHA:254346
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:98794
Koolen-De Vries Syndrome
Abnormality of hair texture, Cataract, Hypopigmentation of hair ORPHA:96169
Fabry Disease
Optic atrophy, Cataract, Abnormal circulating lipid concentration, Transient ischemic attack, Hyp... ORPHA:324
Cystinosis, Nephropathic
Pigmentary retinopathy, Hypopigmentation of the skin, Corneal crystals, Retinal pigment epithelia... OMIM:219800
Duane Retraction Syndrome
Microcornea, Irregular hyperpigmentation, Optic disc hypoplasia, Chorioretinal coloboma, Central ... ORPHA:233
Mucopolysaccharidosis Type 2
Optic atrophy, Retinopathy, Abnormality of retinal pigmentation, Retinal degeneration, Abnormal a... ORPHA:580
Congenital Analbuminemia
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin ORPHA:86816
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia, Splenomegaly, Hirsutism OMIM:608594
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Alopecia, Increased circulating cortisol level, Hyperaldosteronism, Hyperlipidemia, Hirsutism, Pa... ORPHA:189427
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Hyperlipidemia ORPHA:2089
Grange Syndrome
Renal artery stenosis, Coronary artery stenosis, Carotid artery stenosis OMIM:602531
Mucopolysaccharidosis Type 2, Severe Form
Optic atrophy, Hepatosplenomegaly, Abnormality of retinal pigmentation, Retinopathy, Abnormal aor... ORPHA:217085
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Splenomegaly,... ORPHA:163746
Mucopolysaccharidosis Type 2, Attenuated Form
Optic atrophy, Hepatosplenomegaly, Abnormality of retinal pigmentation, Retinopathy, Abnormal aor... ORPHA:217093
Degcags Syndrome
Premature graying of hair, Hepatosplenomegaly, Pancytopenia, Hyperbilirubinemia, Low posterior ha... OMIM:619488
Familial Multiple Lipomatosis
Hyperlipidemia, Chorioretinitis ORPHA:199276
Glycerol Kinase Deficiency
Hyperglycerolemia, Hypertriglyceridemia OMIM:307030
Neutral Lipid Storage Myopathy
Abnormal circulating creatine kinase concentration, Hypertriglyceridemia ORPHA:98908
Mandibuloacral Dysplasia With Type A Lipodystrophy
Alopecia, Mottled pigmentation, Hyperlipidemia, Hypercholesterolemia, Calcinosis, Sparse scalp ha... OMIM:248370
Glycogen Storage Disease Ib
Xanthelasma, Hyperlipidemia, Splenomegaly, Hyperuricemia, Lipemia retinalis, Neutropenia OMIM:232220
Vascular Ehlers-Danlos Syndrome
Keratoconus, Alopecia, Pulmonary artery aneurysm, Arteriovenous fistulas of celiac and mesenteric... ORPHA:286
Prader-Willi Syndrome Due To Translocation
Iris hypopigmentation, Hypopigmentation of the skin, Hyperpigmentation of the skin, Stellate iris... ORPHA:177907
Sim1-Related Prader-Willi-Like Syndrome
Chorioretinal hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:398079
Williams Syndrome
Megalocornea, Posterior embryotoxon, Overriding aorta, Flat cornea, Patent ductus arteriosus, Cat... ORPHA:904
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Decreased plasma free carnitine, Hyperlipidemia... ORPHA:157
Glycogen Storage Disease Ia
Hyperlipidemia, Xanthelasma, Lipemia retinalis, Hyperuricemia OMIM:232200
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Decreased plasma free carnitine, Hyperlipidemia... ORPHA:228308
Smith-Lemli-Opitz Syndrome
Optic atrophy, Cataract, Elevated circulating 7-dehydrocholesterol concentration, Sclerocornea, A... ORPHA:818
Magel2-Related Prader-Willi-Like Syndrome
Chorioretinal hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:398069
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:98754
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:177901
Prader-Willi Syndrome
Stroke, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:739
Autosomal Recessive Faciodigitogenital Syndrome
Hypopigmentation of hair, Dry hair, Widow's peak, Coarse hair ORPHA:1974
Parenteral Nutrition-Associated Cholestasis
Hyperlipidemia, Conjugated hyperbilirubinemia, Splenomegaly, Abnormal circulating fatty-acid conc... ORPHA:567983
Woodhouse-Sakati Syndrome
Alopecia, Sparse hair, Hyperlipidemia, Fine hair OMIM:241080
Alström Syndrome
Cataract, Posterior subcapsular cataract, Frontal balding, Fine hair, Hepatosplenomegaly, Hyperli... ORPHA:64
Glycogen Storage Disease Ic
Cyclic neutropenia, Xanthelasma, Hyperlipidemia, Hyperuricemia OMIM:232240
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hyperlipidemia ORPHA:567546
Aromatase Deficiency
Generalized hirsutism, Hyperlipidemia ORPHA:91
Woodhouse-Sakati Syndrome
Alopecia, Hyperlipidemia, Aplasia/Hypoplasia of the eyebrow ORPHA:3464
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Hyperlipidemia ORPHA:293987

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 Sdc2

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 Sdc2.

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

Title Journal IMPC Allele PubMed ID
Syndecan-2 selectively regulates VEGF-induced vascular permeability. Nature cardiovascular research (May 2022) Sdc2tm1a(KOMP)Wtsi PMC9544384
N-terminal syndecan-2 domain selectively enhances 6-O heparan sulfate chains sulfation and promotes VEGFA165-dependent neovascularization. Nature communications (April 2019) Sdc2tm1a(KOMP)Wtsi PMC6450910

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Sdc2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Sdc2tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice

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