banner
Genes Phenotypes Help, News, Blog

Gene: Tm9sf3 MGI:1914262

Log in to follow

Gene Summary

Name:
transmembrane 9 superfamily member 3
Synonyms:
Smbp,  2810031D16Rik,  1810073M23Rik

Order Alleles

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
embryonic growth retardation Tm9sf3em1(IMPC)Mbp HOM E15.5 0.00
increased circulating triglyceride level Tm9sf3em1(IMPC)Mbp HET Early adult 1.45×10-06
increased circulating phosphate level Tm9sf3em1(IMPC)Mbp HET   Early adult 3.44×10-06
preweaning lethality, complete penetrance Tm9sf3em1(IMPC)Mbp HOM   Early adult 0.00
abnormal coat/hair pigmentation Tm9sf3em1(IMPC)Mbp HET Early adult 2.92×10-05
edema Tm9sf3em1(IMPC)Mbp HOM E15.5 0.00

Download data as:  TSV  XLS

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

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

View images
Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images
Gross Morphology Embryo E14.5-E15.5

Images

6 Images

View images

Human diseases caused by Tm9sf3 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 Tm9sf3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Lipedema
Edema OMIM:614103
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, White eyelashes, Silver-gray hair OMIM:609227
Hypoalphalipoproteinemia, Primary, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:604091
Angioedema, Hereditary, 6
Angioedema, Facial edema, Edema of the dorsum of hands OMIM:619363
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Fish-Eye Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:136120
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Large... OMIM:214450
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... ORPHA:79506
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94090
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hypercholesterolemia, Hyperlipidemia OMIM:232700
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Lymphatic Malformation 11
Lymphedema, Pedal edema OMIM:619401
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Tietz Syndrome
White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation o... ORPHA:42665
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:146200
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia OMIM:619175
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair ORPHA:1410
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypocalcemia, Increased circulating renin level, Hypomagnesemia, Hyperphosphatemia OMIM:601198
Preeclampsia/Eclampsia 1
Intrauterine growth retardation, Edema OMIM:189800
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Spondyloepiphyseal Dysplasia, Nishimura Type
Hypocalcemia, Hyperphosphatemia OMIM:618618
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Hidrotic Ectodermal Dysplasia
Nail dystrophy, Slow-growing nails, Hypopigmentation of hair, Small nail, Absent pubic hair, Hype... ORPHA:189
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia
Increased LDL cholesterol concentration, Fair hair OMIM:618808
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia, Increased LD... OMIM:615703
Waardenburg Syndrome, Type 2F
Premature graying of hair, Hypermelanotic macule, Hypopigmentation of the skin, Heterochromia iri... OMIM:619947
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:610947
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:606952
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha... ORPHA:170
Lipase Deficiency, Combined
Hypertriglyceridemia OMIM:246650
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hirsutism, Hypercholesterolemia, Hypocalcemia OMIM:612526
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina... OMIM:616516
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Griscelli Syndrome Type 1
Premature graying of hair, Hyperlipidemia, White hair, Iris hypopigmentation, Partial albinism ORPHA:79476
Lymphatic Malformation 14
Lymphedema OMIM:620602
Lymphatic Malformation 2
Lymphedema OMIM:611944
Autoimmune Hypoparathyroidism
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:36913
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Hypophosphatemia OMIM:241520
Albinism, Oculocutaneous, Type Iv
Albinism, Blue irides, Hypopigmentation of hair OMIM:606574
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Griscelli Syndrome, Type 2
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos... OMIM:607624
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Calciphylaxis
Hyperphosphatemia ORPHA:280062
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia OMIM:615924
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia ORPHA:436182
Pseudohypoparathyroidism, Type Ic
Hypocalcemia, Hyperphosphatemia, Hypocalcemic tetany OMIM:612462
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... OMIM:613265
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia OMIM:614480
Autosomal Dominant Hypocalcemia
Irregular hyperpigmentation, Hypocalcemia, Abnormality of the nail, Abnormal fingernail morpholog... ORPHA:428
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94089
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:607616
Genetic Recurrent Myoglobinuria
Hypocalcemia, Hyperphosphatemia, Highly elevated creatine kinase, Hyperkalemia ORPHA:99845
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Lymphatic Malformation 8
Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion, Nonimmune hydrops fetalis OMIM:618773
Waardenburg Syndrome, Type 2A
Premature graying of hair, Numerous pigmented freckles, Heterochromia iridis, Synophrys, White fo... OMIM:193510
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hypercholesterolemia, Hyperuricemia OMIM:306000
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia ORPHA:71529
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Pseudohypoparathyroidism, Type Ia
Hyperphosphatemia, Hypocalcemic tetany OMIM:103580
Ermine Phenotype
White hair, White eyelashes, Vitiligo, Spotty hyperpigmentation, White eyebrow, Abnormal iris pig... OMIM:227010
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Albinism, Oculocutaneous, Type Ii
Red hair, Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Blue irides, Freckles... OMIM:203200
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperlipidemia OMIM:617885
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:619165
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Hypercalcemia, Hyperphosphatemia OMIM:211900
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, Hypopigmentation of hair, Heterochromia ir... ORPHA:895
Hypotrichosis 8
Coarse hair, Ridged nail, Sparse scalp hair, Woolly hair, Sparse eyelashes, Nail pits, Sparse eye... OMIM:278150
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypopigmentation of hair ORPHA:1355
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:603552
Tangier Disease
Nail dysplasia, Hypertriglyceridemia, Nail dystrophy, Decreased HDL cholesterol concentration, De... OMIM:205400
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Elejalde Neuroectodermal Melanolysosomal Syndrome
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos... OMIM:256710
Woolly Hair Nevus
Woolly scalp hair, Heterochromia iridis, Curly hair, Congenital posterior occipital alopecia, Pat... ORPHA:79414
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Steatorrhea, Decreased LDL cholest... OMIM:615558
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:2786
Oculocutaneous Albinism Type 3
Blue irides, Red hair, Hypopigmentation of the skin, Iris hypopigmentation, White eyelashes, Whit... ORPHA:79433
Paget Disease Of Bone 5, Juvenile-Onset
Hyperphosphatemia, Hydroxyprolinemia, Hyperuricemia OMIM:239000
Abdominal Obesity-Metabolic Syndrome 4
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:618620
Piebald Trait-Neurologic Defects Syndrome
Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyela... ORPHA:2885
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Increa... OMIM:605814
Neuroleptic Malignant Syndrome
Hyperkalemia, Hyperuricemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hy... ORPHA:94093
White Sponge Nevus 2
Edema OMIM:615785
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Hypophosphatemia OMIM:193100
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia ORPHA:2323
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia OMIM:127000
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia OMIM:615863
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia OMIM:177000
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Decreased circulating apolipoprotein C-II concentration, Hypercholesterolem... OMIM:207750
Lymphoproliferative Syndrome, X-Linked, 2
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:300635
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Generalized hyperpigmentation, Hypopigmentation of the skin, Hypopigme... ORPHA:33445
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Methionine Malabsorption Syndrome
Blue irides, Positive ferric chloride test, White hair OMIM:250900
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia OMIM:613877
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia ORPHA:280356
Immunodeficiency 109 With Lymphoproliferation
Hypertriglyceridemia OMIM:620282
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:613101
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hirsutism, Hyperuricemia OMIM:604367
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise ORPHA:423
Waardenburg-Shah Syndrome
Premature graying of hair, Hypopigmentation of hair, Synophrys, White forelock, Abnormal eyebrow ... ORPHA:897
Acrodysostosis 1 With Or Without Hormone Resistance
Hyperphosphatemia, Blue irides, Melanocytic nevus OMIM:101800
Lymphatic Malformation 7
Pulmonary edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuchal translucenc... OMIM:617300
Linear Verrucous Nevus Syndrome
Hypophosphatemia, Sparse scalp hair ORPHA:2611
Waardenburg Syndrome, Type 4A
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... OMIM:277580
Griscelli Syndrome Type 2
Premature graying of hair, Hypopigmentation of hair, Hyperlipidemia, Iris hypopigmentation, Parti... ORPHA:79477
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Hyperammonemia, Elevated plasma citrulline, Hyperargininemia OMIM:603471
Dent Disease 2
Hypophosphatemia, Elevated circulating creatine kinase concentration OMIM:300555
Lcat Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased circulating apolipoprote... ORPHA:650
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Generalized hirsutism ORPHA:363400
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia OMIM:608600
Pseudohypoparathyroidism Type 1C
Calcinosis, Hypocalcemic seizures, Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia ORPHA:79444
Mandibuloacral Dysplasia
Hypertriglyceridemia, Hypoplastic fingernail, Abnormality of skin pigmentation, Sparse hair, Incr... ORPHA:2457
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Low posterior hairline, Increased C-peptide level, Low anterior hairline, H... ORPHA:528
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Increased C-peptide level OMIM:615238
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Hypophosphatemia OMIM:618913
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Facial edema, Polyhydramnios, Chylothorax, Lymphedema, Pleural effusion, Ascites... OMIM:265300
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:267700
Immunodeficiency 114, Folate-Responsive
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:620603
Piebaldism
Hypopigmented skin patches, Hypopigmentation of hair, Piebald skin depigmentation, Heterochromia ... ORPHA:2884
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia, Synophrys OMIM:182290
Waardenburg Syndrome Type 1
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Abnormal hair mo... ORPHA:894
Oculocutaneous Albinism Type 4
Hypopigmentation of hair, White hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnorm... ORPHA:79435
Pseudohypoparathyroidism Type 1A
Calcinosis, Hypocalcemic seizures, Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia ORPHA:79443
Colchicine Poisoning
Hypokalemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypophosphatemia, Abnormal blood ion con... ORPHA:31824
Vogt-Koyanagi-Harada Disease
Hypopigmented skin patches, Premature graying of hair, Abnormal eyelash morphology, Sparse scalp ... ORPHA:3437
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Familial Isolated Hyperparathyroidism
Hypercalcemia, Hypophosphatemia ORPHA:99879
Temple Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:616222
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hypophosphatemia ORPHA:89937
Hyperlipoproteinemia, Type Id
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased circulating chylomicron ... OMIM:615947
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... ORPHA:567548
Autosomal Dominant Kenny-Caffey Syndrome
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:93325
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Obesity And Hypopigmentation
Red hair OMIM:620195
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Hypopr... ORPHA:247585
Lymphatic Malformation 10
Lymphedema OMIM:619369
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Hyperbilirubinemia, Increased circulating ferritin concentration, Elevated ... ORPHA:158057
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia OMIM:308990
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Refractory Celiac Disease
Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Hypophosphatemia, Hypoalbuminemia ORPHA:398063
Piebald Trait
Piebald skin depigmentation, Heterochromia iridis, White forelock, Absent pigmentation of the ven... OMIM:172800
Hypomagnesemia 3, Renal
Hypocalcemic seizures, Increased circulating beta-C-terminal telopeptide concentration, Hyperuric... OMIM:248250
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:618398
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Hypophosphatemia, Steatorrhea OMIM:605911
Reni Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hyperpigmentation of the skin OMIM:617575
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Hypophosphatemia, Alopecia ORPHA:93160
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemic rickets, Hypophosphatemia, Increased circulating beta-C-terminal telopeptide con... ORPHA:157215
Familial Partial Lipodystrophy, Dunnigan Type
Abnormality of the nail, Generalized hirsutism, Hypertriglyceridemia ORPHA:2348
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Nail dystrophy, Hypercholesterolemia, Small nail OMIM:610644
Lipodystrophy, Familial Partial, Type 6
Abnormal circulating lipid concentration, Hyperlipidemia, Hypopigmentation of the skin, Elevated ... OMIM:615980
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:177910
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:277460
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Elevated circulating creatinine concentration, Hyperphosphatemia ORPHA:340
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Uremic Pruritus
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia ORPHA:94059
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Generalized hirsutism, Hyperuricemia ORPHA:79083
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia ORPHA:364
Hermansky-Pudlak Syndrome 3
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:614072
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:615812
Lmna-Related Cardiocutaneous Progeria Syndrome
Premature graying of hair, Hypertriglyceridemia, Absent eyelashes, Absent eyebrow, Sparse hair, A... ORPHA:363618
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia ORPHA:79085
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:209902
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia ORPHA:466650
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Hypokalemia OMIM:134600
Hyperlipoproteinemia, Type I
Lactescent serum, Hypercholesterolemia, Hyperlipidemia, Increased circulating chylomicron concent... OMIM:238600
Vitamin D-Dependent Rickets, Type 2A
Alopecia universalis, Hypocalcemic seizures, Hypophosphatemia OMIM:277440
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia, Synophrys ORPHA:819
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia OMIM:241530
Oculocutaneous Albinism Type 2
Blue irides, Iris transillumination defect, Hypopigmentation of hair, Hyperpigmented nevi, Hypopi... ORPHA:79432
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypocalcemia, Hypophosphatemia OMIM:600081
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Steatorrhea, Increased LDL cholest... OMIM:278000
Squalene Synthase Deficiency
Increased circulating farnesol concentration, Abnormality of hair pigmentation, Elevated circulat... OMIM:618156
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Conjugated hyperbilirubinemia OMIM:214900
Dysbetalipoproteinemia
Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Increased LDL cholest... ORPHA:412
Oculocutaneous Albinism Type 1
Iris transillumination defect, Generalized hypopigmentation, Iris hypopigmentation, White eyelash... ORPHA:352731
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Fine hair, Generalized hirsutism, Hypopigmentation of hair ORPHA:2221
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Hypoproteinemia, Increased total bilirubin, Hyponatremia, Hypoalbuminemia, ... OMIM:603553
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Cystinosis
Hypophosphatemia, Hypokalemia ORPHA:213
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina... ORPHA:98855
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hypertriglyceridemia OMIM:615381
Werner Syndrome
Hypertriglyceridemia, Alopecia of scalp, Elevated hemoglobin A1c OMIM:277700
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:619313
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia OMIM:264700
Glycogen Storage Disease Ixc
Hypertriglyceridemia OMIM:613027
Macrophage Activation Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Increased circulating ferritin concentration, Elevated cir... ORPHA:158061
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypoalbuminemia OMIM:618183
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia ORPHA:435651
Oculocutaneous Albinism Type 1B
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnormality of ret... ORPHA:79434
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Generalized hyperpigmentation, Generalized hirsutism, Abnormal circulating ... ORPHA:79086
Lipe-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:435660
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Hypophosphatemia OMIM:616026
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia, Decreased circulating cortisol level, Red hair OMIM:609734
X-Linked Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina... ORPHA:98863
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina... ORPHA:261
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Hypophosphatemia ORPHA:2088
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Mildly elevated creatine kinase, Hyperlipidemia OMIM:604484
Glycogen Storage Disease Iii
Hyperlipidemia, Elevated circulating creatine kinase concentration OMIM:232400
Combined Oxidative Phosphorylation Deficiency 55
Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Hypomagnesemia, Hyp... OMIM:619743
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia OMIM:307800
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:411515
Fanconi-Bickel Syndrome
Increased serum bile acid concentration, Hypokalemia, Hypouricemia, Hyperbilirubinemia, Hypergala... OMIM:227810
Classic Phenylketonuria
Hyperphenylalaninemia, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:79254
Microtriplication 11Q24.1
Hyperlipidemia, Thick eyebrow, Synophrys, Long eyelashes ORPHA:289522
Neutral Lipid Storage Disease With Ichthyosis
Hypertriglyceridemia, Abnormal circulating creatine kinase concentration, Alopecia ORPHA:98907
Lymphatic Malformation 6
Polyhydramnios, Chylothorax, Genital edema, Lymphedema, Pleural effusion, Ascites, Short stature,... OMIM:616843
Obesity Due To Prohormone Convertase I Deficiency
Hypopigmentation of the skin, Red hair ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypopigmentation of the skin, Red hair ORPHA:71526
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia ORPHA:66628
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Premature graying of hair, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Abnorma... ORPHA:280365
Fanconi Renotubular Syndrome 2
Hypophosphatemia OMIM:613388
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia ORPHA:179494
Chédiak-Higashi Syndrome
Hypertriglyceridemia, Hypopigmentation of hair, Hypoproteinemia, Hypopigmentation of the skin, La... ORPHA:167
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Hirsutism, Elevated circulating creatine kinase concentration OMIM:613327
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemic rickets, Hypophosphatemia OMIM:300554
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Hypoalbuminemia, Increased circulating ferritin concentration ORPHA:540
H Syndrome
Hypertriglyceridemia, Hyperpigmentation of the skin, Abnormal eyebrow morphology, Hypertrichosis,... ORPHA:168569
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hypercalcemia, Hypophosphatemia OMIM:239200
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia ORPHA:352540
Ataxia-Telangiectasia
Premature graying of hair, Multiple cafe-au-lait spots, Hypopigmentation of hair ORPHA:100
Ermine Phenotype
Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Iris hypopigme... ORPHA:999
Immunodeficiency 97 With Autoinflammation
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:619802
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalcemia, Hypophosphatemia OMIM:156400
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Albinism, Frecklin... ORPHA:79431
Waardenburg Syndrome
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Heterochromia ir... ORPHA:3440
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Ocular albinism, White hair, Albinism, Blue irides, Absent skin pigment... OMIM:203100
Xp21 Deletion Syndrome
Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:261476
Juvenile Nephropathic Cystinosis
Hypokalemia, Hypocalcemia, Hypouricemia, Hyponatremia, Hypophosphatemia, Hypocalcemic tetany, Ele... ORPHA:411634
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hirsutism, Hypercholesterolemia OMIM:151660
Acrodysostosis 2 With Or Without Hormone Resistance
Blue irides, Red hair, Fair hair OMIM:614613
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration ORPHA:79240
Hereditary Fructose Intolerance
Hypermagnesemia, Hypophosphatemia, Hyperuricemia ORPHA:469
Cystinosis, Nephropathic
Hypophosphatemic rickets, Hypopigmentation of hair, Reduced blood urea nitrogen, Hypokalemia, Dec... OMIM:219800
Lysinuric Protein Intolerance
Hypertriglyceridemia, Hyperglycinemia, Decreased HDL cholesterol concentration, Elevated plasma c... ORPHA:470
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia ORPHA:289157
Familial Chylomicronemia Syndrome
Hypertriglyceridemia, Hyperlipidemia, Increased circulating chylomicron concentration ORPHA:444490
Prader-Willi Syndrome
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Generalized hypopigmentation, Fron... OMIM:176270
Infantile Nephropathic Cystinosis
Abnormal blood ion concentration, Hypokalemia, Hypophosphatemia, Pigmentary retinopathy ORPHA:411629
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration ORPHA:264580
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair ORPHA:70472
Fibrous Dysplasia Of Bone
Multiple cafe-au-lait spots, Large cafe-au-lait macules with irregular margins, Hypercalcemia, Hy... ORPHA:249
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Hypopigmentation of the skin, Melanocytic nevus, Albinism, Freckling, F... OMIM:203300
Mccune-Albright Syndrome
Increased circulating cortisol level, Hypophosphatemia, Primary hypercortisolism, Large cafe-au-l... ORPHA:562
Cholestasis-Lymphedema Syndrome
Abnormality of skin pigmentation, Hyperlipidemia ORPHA:1414
Alport Syndrome 3A, Autosomal Dominant
Hypophosphatemia, Azotemia OMIM:104200
Carney Complex, Type 1
Multiple lentigines, Red hair, Hirsutism, Profuse pigmented skin lesions, Freckling OMIM:160980
Tangier Disease
Hypertriglyceridemia, Nail dystrophy, Hypocholesterolemia ORPHA:31150
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hyperlipidemia ORPHA:369
Alstrom Syndrome
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperuricemia, Elevated hemoglobin... OMIM:203800
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmented skin patches, Hypopigmentation of hair, Hyperpigmentation of the skin, Multiple caf... ORPHA:3214
Dent Disease 1
Hypophosphatemia OMIM:300009
Mandibuloacral Dysplasia With Type B Lipodystrophy
Nail dystrophy, Calcinosis, Hyperpigmentation of the skin, Abnormal hair morphology, Hyperlipidem... ORPHA:90154
Lysosomal Acid Lipase Deficiency
Hypertriglyceridemia, Hyperkalemia, Xanthelasma, Steatorrhea, Hyponatremia, Hypercholesterolemia ORPHA:275761
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Cafe-au-lait spot, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:618541
Waardenburg Syndrome, Type 4C
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... OMIM:613266
Muenke Syndrome
Hypopigmented skin patches, Hypermelanotic macule, Hypopigmentation of hair ORPHA:53271
Primary Fanconi Renotubular Syndrome
Bicarbonaturia, Hypophosphatemic rickets, Hypokalemia, Decreased circulating carnitine concentrat... ORPHA:3337
Atypical Werner Syndrome
Premature graying of hair, Hypertriglyceridemia, Abnormal hair morphology, Abnormal hair quantity... ORPHA:79474
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypocalcemic seizures, Hypercalcemia ORPHA:405
Classical-Like Ehlers-Danlos Syndrome Type 2
Hypertriglyceridemia, Alopecia ORPHA:536532
Seckel Syndrome 10
Hypertriglyceridemia, Elevated hemoglobin A1c OMIM:617253
Pearson Syndrome
Steatorrhea, Hypokalemia, Hyperpigmentation of the skin, Hypocalcemia, Hyperalaninemia, Cafe-au-l... ORPHA:699
Gaisböck Syndrome
Hypertriglyceridemia, Hyperuricemia, Increased circulating renin level, Hyperproteinemia, Hyperch... ORPHA:90041
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia OMIM:256300
Proteasome-Associated Autoinflammatory Syndrome 3
Hypertriglyceridemia OMIM:617591
Opsismodysplasia
Hypophosphatemia OMIM:258480
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia ORPHA:369837
Thyrotoxic Periodic Paralysis
Hyperkalemia, Transient hypophosphatemia, Episodic hypokalemia, Hypomagnesemia, Mildly elevated c... ORPHA:79102
Raine Syndrome
Highly arched eyebrow, Hypophosphatemia OMIM:259775
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Hyperlipidemia ORPHA:2089
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia ORPHA:86816
Mandibuloacral Dysplasia With Type B Lipodystrophy
Brittle hair, Hyperlipidemia, Sparse hair, Mottled pigmentation, Alopecia OMIM:608612
Oculocerebrorenal Syndrome Of Lowe
Hypokalemia, Generalized hypopigmentation, Sparse scalp hair, Hyponatremia, Hypophosphatemia, Hyp... ORPHA:534
Hoyeraal-Hreidarsson Syndrome
Premature graying of hair, Nail dystrophy, Sparse scalp hair, Generalized hyperpigmentation, Gene... ORPHA:3322
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:98795
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Increased circulating ferritin concentration, Hyperproteinemia ORPHA:158048
Neutral Lipid Storage Disease With Myopathy
Hypertriglyceridemia, Elevated circulating creatine kinase concentration OMIM:610717
Hypohidrotic Ectodermal Dysplasia
Irregular hyperpigmentation, Trichorrhexis nodosa, Breast aplasia, Abnormality of the nail, Abnor... ORPHA:238468
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Xanthelasma, Hyperuricemia, Hyperlipidemia, Hypercholesterolemia ORPHA:79259
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperpigmentation of the skin, Breast aplasia, Absent eyelashes, Hyperlipidemia, Abnormal eyebrow... ORPHA:90153
Proteasome-Associated Autoinflammatory Syndrome 1
Premature graying of hair, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevate... OMIM:256040
Methanol Poisoning
Hyperlipidemia ORPHA:31825
Mandibuloacral Dysplasia Progeroid Syndrome
Hypertriglyceridemia, Nail dystrophy, Sparse eyebrow, Elevated hemoglobin A1c, Sparse hair OMIM:619127
Angelman Syndrome Due To A Point Mutation
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:411511
Autosomal Recessive Malignant Osteopetrosis
Hypocalcemia, Abnormality of hair texture, Hypophosphatemia ORPHA:667
19P13.12 Microdeletion Syndrome
Hyperlipidemia, Generalized hirsutism, Synophrys ORPHA:254346
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Alopecia, Hirsutism, Hyperlipidemia, Hyperaldosteronism, Paradoxical increased cortisol secretion... ORPHA:189427
Fructose Intolerance, Hereditary
Bicarbonaturia, Hyperbilirubinemia, Hypophosphatemia, Hyperuricemia OMIM:229600
Brittle Cornea Syndrome 1
Red hair OMIM:229200
Immunodeficiency 87 And Autoimmunity
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Hypokalemia OMIM:619573
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Hirsutism, Elevated hemoglobin A1c OMIM:269700
Syndromic Diarrhea
Trichorrhexis nodosa, Abnormality of iron homeostasis, Hypopigmentation of hair, Brittle hair, Ge... ORPHA:84064
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Hypertriglyceridemia OMIM:619418
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Sparse scalp hair, Sparse hair, Hypercholesterolemia, Pigmentary retinopathy OMIM:606721
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia, Hirsutism OMIM:608594
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia, Alopecia of scalp, Broad eyebrow, Small nail, Absent eyelashes, Sparse scal... OMIM:264090
Neutral Lipid Storage Myopathy
Hypertriglyceridemia, Abnormal circulating creatine kinase concentration ORPHA:98908
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Hyperuricemia ORPHA:35909
Glycerol Kinase Deficiency
Hypertriglyceridemia, Hyperglycerolemia OMIM:307030
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Hypophosphatemia ORPHA:99880
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Alopecia, Hyperlipidemia, Sparse scalp hair, Mottled pigmentation, Hypercholesterolem... OMIM:248370
Parathyroid Carcinoma
Hypercalcemia, Hypophosphatemia ORPHA:143
Dent Disease
Renal hypophosphatemia, Elevated circulating creatine kinase concentration ORPHA:1652
Chronic Visceral Acid Sphingomyelinase Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:77293
Chediak-Higashi Syndrome
Hypopigmentation of hair, Silver-gray hair, Hypopigmentation of the skin, Giant melanosomes in me... OMIM:214500
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:98794
Alagille Syndrome 1
Hypertriglyceridemia, Hypercholesterolemia, Pigmentary retinopathy OMIM:118450
Autosomal Recessive Hypophosphatemic Rickets
Renal hypophosphatemia, Hypophosphatemic rickets ORPHA:289176
Carnitine Palmitoyltransferase Ii Deficiency
Hyperlipidemia, Elevated circulating creatine kinase concentration, Decreased plasma total carnit... ORPHA:157
Schimke Immuno-Osseous Dysplasia
Multiple lentigines, Hypermelanotic macule, Hyperlipidemia ORPHA:1830
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hyperlipidemia OMIM:235400
Koolen-De Vries Syndrome
Abnormality of hair texture, Hypopigmentation of hair ORPHA:96169
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Long eyelashes, Iris hypopigmentation, Me... ORPHA:79430
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hyperlipidemia, Elevated circulating creatine kinase concentration, Hyperammonemia, Decreased pla... ORPHA:228308
X-Linked Hypophosphatemia
Hypophosphatemia ORPHA:89936
Bardet-Biedl Syndrome
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Medial flaring of the eyebrow, Gen... ORPHA:110
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia, Hirsutism, Sparse scalp hair, Synophrys, Aplasia/Hypoplasia of the nails, S... ORPHA:3455
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Hyperlipidemia ORPHA:439232
Brittle Cornea Syndrome
Abnormality of hair pigmentation ORPHA:90354
Woodhouse-Sakati Syndrome
Fine hair, Hyperlipidemia, Sparse hair, Alopecia OMIM:241080
Vici Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Elevated circulating creatine kinase conc... OMIM:242840
Familial Multiple Lipomatosis
Hyperlipidemia ORPHA:199276
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Heterochromia ir... ORPHA:163746
Sim1-Related Prader-Willi-Like Syndrome
Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:398079
Autosomal Recessive Faciodigitogenital Syndrome
Coarse hair, Hypopigmentation of hair, Dry hair, Widow's peak ORPHA:1974
Prader-Willi Syndrome Due To Translocation
Hypopigmentation of hair, Hyperpigmentation of the skin, Stellate iris, Hypopigmentation of the s... ORPHA:177907
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Hypopigmentation of hair, Ocular albinism ORPHA:2719
Glycogen Storage Disease Ia
Xanthelasma, Hyperlipidemia, Hyperuricemia OMIM:232200
Parenteral Nutrition-Associated Cholestasis
Conjugated hyperbilirubinemia, Hyperlipidemia, Abnormal circulating fatty-acid concentration ORPHA:567983
Magel2-Related Prader-Willi-Like Syndrome
Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:398069
Degcags Syndrome
Premature graying of hair, Hypopigmentation of hair, Hyperbilirubinemia, Abnormal eyelash morphol... OMIM:619488
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:98754
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:177901
Prader-Willi Syndrome
Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:739
Glycogen Storage Disease Ib
Xanthelasma, Hyperlipidemia, Hyperuricemia OMIM:232220
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hyperlipidemia ORPHA:567546
Aromatase Deficiency
Hyperlipidemia, Generalized hirsutism ORPHA:91
Menkes Disease
Woolly hair, Hypopigmentation of hair, Sparse hair ORPHA:565
Smith-Lemli-Opitz Syndrome
Elevated circulating 7-dehydrocholesterol concentration, Abnormal eyelash morphology, Hypopigment... ORPHA:818
Glycogen Storage Disease Ic
Xanthelasma, Hyperlipidemia, Hyperuricemia OMIM:232240
Woodhouse-Sakati Syndrome
Alopecia, Hyperlipidemia, Aplasia/Hypoplasia of the eyebrow ORPHA:3464
Primary Triglyceride Deposit Cardiomyovasculopathy
Hyperlipidemia, Elevated circulating creatine kinase concentration ORPHA:565612
Fabry Disease
Abnormal circulating lipid concentration, Hyperlipidemia ORPHA:324
Alström Syndrome
Hypertriglyceridemia, Frontal balding, Hirsutism, Hyperlipidemia, Fine hair ORPHA:64
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Hyperlipidemia ORPHA:293987
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia ORPHA:391665

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.

Phenotype Allele Zygosity Sex Life Stage
Gall bladder - MPATH pathological process term inflammation Tm9sf3em1(IMPC)Mbp HET Early adult

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 Tm9sf3.

No publications found that use IMPC mice or data for Tm9sf3.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Tm9sf3tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Tm9sf3tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Tm9sf3em1(IMPC)Mbp Exon Deletion Mice, Tissue

The IMPC Newsletter

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

Subscribe to newsletter