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Gene: Tm9sf3 MGI:1914262

Gene Summary

Name:

transmembrane 9 superfamily member 3

Synonyms:

Smbp, 1810073M23Rik, 2810031D16Rik

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	Allele	Zyg	Life Stage	P Value
preweaning lethality, complete penetrance	Tm9sf3^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal coat/hair pigmentation	Tm9sf3^em1(IMPC)Mbp	HET	Early adult	3.13×10^-05
edema	Tm9sf3^em1(IMPC)Mbp	HOM	E15.5	0.00
increased circulating phosphate level	Tm9sf3^em1(IMPC)Mbp	HET	Early adult	6.29×10^-06
embryonic growth retardation	Tm9sf3^em1(IMPC)Mbp	HOM	E15.5	0.00
increased circulating triglyceride level	Tm9sf3^em1(IMPC)Mbp	HET	Early adult	1.66×10^-06

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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 Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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Gross Morphology Embryo E14.5-E15.5

Images

6 Images

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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.

Human diseases associated with Tm9sf3 (0 diseases)
Human diseases predicted to be associated with Tm9sf3 (369 diseases)

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	Matching phenotypes	Source
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Lipedema	Edema	OMIM:614103
Atherosclerosis Susceptibility	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:108725
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Angioedema, Hereditary, 6	Facial edema, Angioedema, Edema of the dorsum of hands	OMIM:619363
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Fish-Eye Disease	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:136120
Griscelli Syndrome, Type 1	Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar...	OMIM:214450
Kaposi Sarcoma, Susceptibility To	Edema	OMIM:148000
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Albinism, Oculocutaneous, Type Iii	Red hair, Partial albinism, Albinism	OMIM:203290
Glycogen Storage Disease Vi	Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia	OMIM:232700
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Lymphatic Malformation 11	Pedal edema, Lymphedema	OMIM:619401
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia	ORPHA:366
Tietz Syndrome	Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e...	ORPHA:42665
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia	OMIM:603233
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Hypoparathyroidism, Familial Isolated, 1	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia	OMIM:619175
Malignant Hyperthermia, Susceptibility To, 3	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Hypertriglyceridemia 1	Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Preeclampsia/Eclampsia 1	Intrauterine growth retardation, Edema	OMIM:189800
Malignant Hyperthermia, Susceptibility To, 1	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:145600
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Pseudohypoparathyroidism Type 2	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94090
Griscelli Syndrome Type 3	Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79478
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia	Increased LDL cholesterol concentration, Fair hair	OMIM:618808
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Dilution, Pigmentary	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	OMIM:126070
Morbid Obesity And Spermatogenic Failure	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:615703
Blue Diaper Syndrome	Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Waardenburg Syndrome, Type 2B	Premature graying of hair, White forelock, Heterochromia iridis	OMIM:600193
Coronary Artery Disease, Autosomal Dominant 2	Increased LDL cholesterol concentration, Hypertriglyceridemia	OMIM:610947
Waardenburg Syndrome, Type 2F	Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a...	OMIM:619947
Albinism, Oculocutaneous, Type Ib	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:606952
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair...	ORPHA:170
Papular Xanthoma	Hyperlipidemia	ORPHA:158008
Glycosylphosphatidylinositol Biosynthesis Defect 17	Hypertriglyceridemia	OMIM:618010
Lipase Deficiency, Combined	Hypertriglyceridemia	OMIM:246650
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	OMIM:616516
Lipodystrophy, Congenital Generalized, Type 3	Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia, Hirsutism	OMIM:612526
Pseudopseudohypoparathyroidism	Hyperphosphatemia, Hypocalcemia	ORPHA:79445
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Edema, Familial Idiopathic, Prepubertal	Edema	OMIM:129840
Lymphatic Malformation 2	Lymphedema	OMIM:611944
Autoimmune Hypoparathyroidism	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	ORPHA:36913
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Hypophosphatemia	OMIM:241520
Griscelli Syndrome Type 1	Partial albinism, Hyperlipidemia, White hair, Premature graying of hair, Iris hypopigmentation	ORPHA:79476
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:245900
Albinism, Oculocutaneous, Type Iv	Hypopigmentation of hair, Blue irides, Albinism	OMIM:606574
Macular Dystrophy, Dominant Cystoid	Cystoid macular edema, Edema	OMIM:153880
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Hypopigmentation of hair, Partial albinism	ORPHA:90023
Pulmonary Edema Of Mountaineers, Susceptibility To	Edema, Pulmonary edema	OMIM:178400
Ermine Phenotype	White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo	OMIM:227010
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration	ORPHA:140905
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia	OMIM:608898
Griscelli Syndrome, Type 2	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan...	OMIM:607624
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Calciphylaxis	Hyperphosphatemia	ORPHA:280062
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hypertriglyceridemia	ORPHA:436182
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hypertriglyceridemia	OMIM:615924
Hypertriglyceridemia, Transient Infantile	Hypertriglyceridemia	OMIM:614480
Neutral Lipid Storage Disease With Myopathy	Hypertriglyceridemia, Elevated circulating creatine kinase concentration	OMIM:610717
Pseudohypoparathyroidism, Type Ic	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia	OMIM:612462
Autosomal Dominant Hypocalcemia	Alopecia, Abnormal fingernail morphology, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Irregu...	ORPHA:428
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hyperphosphatemia, Hypercalcemia	OMIM:617994
Waardenburg Syndrome, Type 4B	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:613265
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Niemann-Pick Disease, Type B	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:607616
Genetic Recurrent Myoglobinuria	Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia	ORPHA:99845
Glycogen Storage Disease Ixa1	Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia	OMIM:306000
Lymphatic Malformation 8	Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema	OMIM:618773
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia	ORPHA:71529
Vitamin D-Dependent Rickets, Type 3	Hypocalcemia, Hypophosphatemia	OMIM:619073
Waardenburg Syndrome, Type 2A	White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,...	OMIM:193510
Idiopathic Steroid-Sensitive Nephrotic Syndrome	Lymphedema	ORPHA:69061
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:241410
Pseudohypoparathyroidism, Type Ia	Hypocalcemic tetany, Hyperphosphatemia	OMIM:103580
Hypercalcemia, Infantile, 2	Hypercalcemia, Hypophosphatemia	OMIM:616963
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr...	OMIM:615558
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Hyperphosphatemia	OMIM:211900
Body Mass Index Quantitative Trait Locus 19	Hyperlipidemia, Hypertriglyceridemia	OMIM:617885
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig...	OMIM:203200
Cholesteryl Ester Storage Disease	Hypercholesterolemia, Hypertriglyceridemia	ORPHA:75234
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:619165
Waardenburg Syndrome Type 2	Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ...	ORPHA:895
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation	ORPHA:1355
Hemophagocytic Lymphohistiocytosis, Familial, 4	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:603552
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Hypophosphatemic Bone Disease	Hypophosphatemia	OMIM:146350
Pseudohypoparathyroidism Type 1B	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94089
Abdominal Obesity-Metabolic Syndrome 4	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:618620
Elejalde Neuroectodermal Melanolysosomal Syndrome	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan...	OMIM:256710
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o...	ORPHA:79414
Oculocutaneous Albinism Type 3	White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener...	ORPHA:79433
Sanjad-Sakati Syndrome	Hyperphosphatemia, Hypocalcemia	ORPHA:2323
White Sponge Nevus 2	Edema	OMIM:615785
Piebald Trait-Neurologic Defects Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented...	ORPHA:2885
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	ORPHA:2786
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Hypophosphatemia	OMIM:193100
Paget Disease Of Bone 5, Juvenile-Onset	Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia	OMIM:239000
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia...	ORPHA:94093
Apolipoprotein C-Ii Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr...	OMIM:207750
Lymphoproliferative Syndrome, X-Linked, 2	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:300635
Protoporphyria, Erythropoietic, 1	Hypertriglyceridemia	OMIM:177000
Neuroectodermal Melanolysosomal Disease	Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat...	ORPHA:33445
Plin1-Related Familial Partial Lipodystrophy	Hypertriglyceridemia	ORPHA:280356
Lipodystrophy, Familial Partial, Type 4	Hypertriglyceridemia	OMIM:613877
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia	OMIM:127000
Immunodeficiency 109 With Lymphoproliferation	Hypertriglyceridemia	OMIM:620282
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:613101
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha...	OMIM:617300
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia	OMIM:615863
Lipodystrophy, Familial Partial, Type 3	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia, Hirsutism	OMIM:604367
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Malignant Hyperthermia Of Anesthesia	Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia	ORPHA:423
Acrodysostosis 1 With Or Without Hormone Resistance	Hyperphosphatemia, Blue irides, Melanocytic nevus	OMIM:101800
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper...	OMIM:605814
Waardenburg-Shah Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White...	ORPHA:897
Linear Verrucous Nevus Syndrome	Sparse scalp hair, Hypophosphatemia	ORPHA:2611
Methionine Malabsorption Syndrome	White hair, Blue irides, Positive ferric chloride test	OMIM:250900
Waardenburg Syndrome, Type 4A	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:277580
Dent Disease 2	Elevated circulating creatine kinase concentration, Hypophosphatemia	OMIM:300555
Pseudohypoparathyroidism Type 1C	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:79444
Severe Neurodegenerative Syndrome With Lipodystrophy	Hypertriglyceridemia, Generalized hirsutism	ORPHA:363400
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Lipodystrophy, Familial Partial, Type 1	Hypertriglyceridemia	OMIM:608600
Griscelli Syndrome Type 2	Hypopigmentation of hair, Partial albinism, Hyperlipidemia, Premature graying of hair, Iris hypop...	ORPHA:79477
Mandibuloacral Dysplasia	Alopecia, Hypertriglyceridemia, Increased circulating free fatty acid level, Abnormality of skin ...	ORPHA:2457
Citrullinemia, Type Ii, Adult-Onset	Elevated plasma citrulline, Hypertriglyceridemia, Hyperargininemia, Hyperammonemia	OMIM:603471
Lipodystrophy, Familial Partial, Type 5	Hypertriglyceridemia, Increased C-peptide level	OMIM:615238
Congenital Generalized Lipodystrophy	Hypertriglyceridemia, Increased C-peptide level, Low anterior hairline, Low posterior hairline, H...	ORPHA:528
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Hypophosphatemia	OMIM:612287
Smith-Magenis Syndrome	Hypercholesterolemia, Synophrys, Hypertriglyceridemia	OMIM:182290
Fanconi Renotubular Syndrome 5	Hypophosphatemic rickets, Hypophosphatemia	OMIM:618913
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole...	OMIM:267700
Piebaldism	Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk...	ORPHA:2884
Pseudohypoparathyroidism Type 1A	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:79443
Lymphangiectasia, Pulmonary, Congenital	Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Mild postnatal g...	OMIM:265300
Waardenburg Syndrome Type 1	Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh...	ORPHA:894
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Hypoalbuminemia	OMIM:619013
Colchicine Poisoning	Hyponatremia, Alopecia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalc...	ORPHA:31824
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Hypophosphatemia	OMIM:612286
Oculocutaneous Albinism Type 4	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin...	ORPHA:79435
Familial Isolated Hyperparathyroidism	Hypercalcemia, Hypophosphatemia	ORPHA:99879
Temple Syndrome	Hypercholesterolemia, Hypertriglyceridemia	OMIM:616222
Vogt-Koyanagi-Harada Disease	Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Hypopigmen...	ORPHA:3437
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati...	ORPHA:247598
Autosomal Dominant Hypophosphatemic Rickets	Hypocalcemia, Hypophosphatemia	ORPHA:89937
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid...	ORPHA:567548
Autosomal Dominant Kenny-Caffey Syndrome	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures	ORPHA:93325
Hyperlipoproteinemia, Type Id	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr...	OMIM:615947
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperbilirubinemia, Elevated ...	ORPHA:158057
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair	ORPHA:1067
Obesity And Hypopigmentation	Red hair	OMIM:620195
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Hypophosphatemia	OMIM:308990
Lymphatic Malformation 10	Lymphedema	OMIM:619369
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia	OMIM:612089
Refractory Celiac Disease	Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia	ORPHA:398063
Piebald Trait	Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr...	OMIM:172800
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem...	ORPHA:247585
Reni Syndrome	Hypertriglyceridemia, Hypoalbuminemia, Hyperpigmentation of the skin	OMIM:617575
Familial Partial Lipodystrophy, Dunnigan Type	Hypertriglyceridemia, Generalized hirsutism, Abnormality of the nail	ORPHA:2348
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:618398
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide concentration, Hypoph...	ORPHA:157215
Hypocalcemic Vitamin D-Resistant Rickets	Alopecia, Hypocalcemia, Hypophosphatemia	ORPHA:93160
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia, Nail dystrophy, Small nail	OMIM:610644
Hyperlipoproteinemia, Type I	Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent...	OMIM:238600
Abdominal Obesity-Metabolic Syndrome 3	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:615812
Piebald Trait With Neurologic Defects	White forelock, Absent pigmentation of the ventral chest	OMIM:172850
Deafness, Unilateral, With Delayed Endolymphatic Hydrops	Edema	OMIM:612097
Ataxia With Vitamin E Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma	OMIM:277460
Akt2-Related Familial Partial Lipodystrophy	Hypertriglyceridemia	ORPHA:79085
Lmna-Related Cardiocutaneous Progeria Syndrome	Absent eyebrow, Hypertriglyceridemia, Absent eyelashes, Premature graying of hair, Sparse hair, H...	ORPHA:363618
Pparg-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hyperuricemia, Generalized hirsutism	ORPHA:79083
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:177910
Hemorrhagic Fever-Renal Syndrome	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration	ORPHA:340
Lipodystrophy, Familial Partial, Type 6	Hyperlipidemia, Abnormal circulating lipid concentration, Hypopigmentation of the skin, Elevated ...	OMIM:615980
Hermansky-Pudlak Syndrome 3	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:614072
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperlipidemia	ORPHA:329249
Squalene Synthase Deficiency	Increased circulating farnesol concentration, Abnormality of hair pigmentation, Decreased LDL cho...	OMIM:618156
Exercise-Induced Malignant Hyperthermia	Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	ORPHA:466650
Chylomicron Retention Disease	Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia	ORPHA:71
Uremic Pruritus	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Fanconi Renotubular Syndrome 1	Hypokalemia, Hypophosphatemia	OMIM:134600
Corneal Dystrophy, Fuchs Endothelial, 2	Edema	OMIM:610158
Smith-Magenis Syndrome	Hypercholesterolemia, Synophrys, Hypertriglyceridemia	ORPHA:819
Vitamin D-Dependent Rickets, Type 2A	Alopecia universalis, Hypocalcemic seizures, Hypophosphatemia	OMIM:277440
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia	OMIM:241530
Oculocutaneous Albinism Type 2	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab...	ORPHA:79432
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypocalcemia, Hypophosphatemia	OMIM:600081
Cholesteryl Ester Storage Disease	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr...	OMIM:278000
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hyperuricemia	ORPHA:364
Glycogen Storage Disease Ixc	Hypertriglyceridemia	OMIM:613027
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	ORPHA:98855
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:209902
Macrophage Activation Syndrome	Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Elevated cir...	ORPHA:158061
Alstrom Syndrome	Decreased HDL cholesterol concentration, Alopecia, Hypertriglyceridemia, Pigmentary retinopathy, ...	OMIM:203800
Werner Syndrome	Alopecia of scalp, Hypertriglyceridemia, Elevated hemoglobin A1c	OMIM:277700
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr...	ORPHA:412
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair	ORPHA:2221
Oculocutaneous Albinism Type 1	White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect...	ORPHA:352731
Hypophosphatemic Rickets, X-Linked Dominant	Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia	OMIM:307800
Cystinosis	Hypokalemia, Hypophosphatemia	ORPHA:213
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Hypertriglyceridemia	OMIM:615381
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia...	OMIM:603553
Lipe-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Elevated circulating creatine kinase concentration	ORPHA:435660
X-Linked Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	ORPHA:98863
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	ORPHA:98853
Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	ORPHA:261
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia	OMIM:264700
Cidec-Related Familial Partial Lipodystrophy	Hypertriglyceridemia	ORPHA:435651
Acquired Generalized Lipodystrophy	Generalized hyperpigmentation, Abnormal circulating lipid concentration, Generalized hirsutism, H...	ORPHA:79086
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Hypoalbuminemia	OMIM:603278
Fanconi-Bickel Syndrome	Hypertriglyceridemia, Hypophosphatemia	ORPHA:2088
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:619313
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	OMIM:618183
Oculocutaneous Albinism Type 1B	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck...	ORPHA:79434
Combined Oxidative Phosphorylation Deficiency 55	Elevated circulating creatine kinase concentration, Hypomagnesemia, Hypophosphatemia, Hypophospha...	OMIM:619743
Cholestasis-Lymphedema Syndrome	Conjugated hyperbilirubinemia, Hyperlipidemia	OMIM:214900
Lymphatic Malformation 6	Genital edema, Short stature, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Per...	OMIM:616843
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Red hair, Decreased circulating cortisol level, Hyperbilirubinemia	OMIM:609734
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperlipidemia, Mildly elevated creatine kinase	OMIM:604484
Glycogen Storage Disease Iii	Hyperlipidemia, Elevated circulating creatine kinase concentration	OMIM:232400
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:411515
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia	ORPHA:66628
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Hypophosphatemia	OMIM:616026
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypercalcemia, Hypophosphatemia	OMIM:600740
Neutral Lipid Storage Disease With Ichthyosis	Alopecia, Hypertriglyceridemia, Abnormal circulating creatine kinase concentration	ORPHA:98907
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Generalized hirsutism, Premature g...	ORPHA:280365
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia	ORPHA:179494
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
Chédiak-Higashi Syndrome	Hyponatremia, Hypopigmentation of the skin, Abnormality of retinal pigmentation, Hypertriglycerid...	ORPHA:167
Fanconi Renotubular Syndrome 2	Hypophosphatemia	OMIM:613388
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hypercalcemia, Hypophosphatemia	OMIM:239200
Classic Phenylketonuria	Hypopigmentation of hair, Hypopigmentation of the skin, Hyperphenylalaninemia	ORPHA:79254
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia	ORPHA:540
Microtriplication 11Q24.1	Hyperlipidemia, Long eyelashes, Thick eyebrow, Synophrys	ORPHA:289522
Fanconi-Bickel Syndrome	Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent...	OMIM:227810
H Syndrome	Abnormal eyebrow morphology, Alopecia, Hypertriglyceridemia, Hyperpigmentation of the skin, Hyper...	ORPHA:168569
Lipodystrophy, Congenital Generalized, Type 4	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hirsutism	OMIM:613327
Hypophosphatemic Rickets, X-Linked Recessive	Hypophosphatemic rickets, Hypophosphatemia	OMIM:300554
Immunodeficiency 97 With Autoinflammation	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:619802
Oncogenic Osteomalacia	Hypocalcemia, Hypophosphatemia	ORPHA:352540
Metaphyseal Chondrodysplasia, Jansen Type	Hypercalcemia, Hypophosphatemia	OMIM:156400
Ataxia-Telangiectasia	Premature graying of hair, Hypopigmentation of hair, Multiple cafe-au-lait spots	ORPHA:100
Ermine Phenotype	Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Irregular hyperpigmentatio...	ORPHA:999
Hypocalcemic Vitamin D-Dependent Rickets	Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia	ORPHA:289157
Oculocutaneous Albinism Type 1A	Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri...	ORPHA:79431
Xp21 Deletion Syndrome	Hypertriglyceridemia, Elevated circulating creatine kinase concentration	ORPHA:261476
Waardenburg Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn...	ORPHA:3440
Lipodystrophy, Familial Partial, Type 2	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia, Hirsutism	OMIM:151660
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration	ORPHA:79240
Albinism, Oculocutaneous, Type Ia	Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb...	OMIM:203100
Acrodysostosis 2 With Or Without Hormone Resistance	Red hair, Fair hair, Blue irides	OMIM:614613
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce...	ORPHA:411634
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration	ORPHA:264580
Infantile Nephropathic Cystinosis	Pigmentary retinopathy, Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia	ORPHA:411629
Tangier Disease	Hypertriglyceridemia, Nail dystrophy, Hypocholesterolemia	ORPHA:31150
Hereditary Fructose Intolerance	Hypermagnesemia, Hyperuricemia, Hypophosphatemia	ORPHA:469
Fibrous Dysplasia Of Bone	Hypercalcemia, Large cafe-au-lait macules with irregular margins, Increased circulating cortisol ...	ORPHA:249
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hypopigmentation of hair	ORPHA:70472
Lysinuric Protein Intolerance	Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole...	ORPHA:470
Mccune-Albright Syndrome	Primary hypercortisolism, Increased circulating cortisol level, Large cafe-au-lait macules with i...	ORPHA:562
Cystinosis, Nephropathic	Hyponatremia, Hypopigmentation of hair, Retinal pigment epithelial mottling, Reduced blood urea n...	OMIM:219800
Familial Chylomicronemia Syndrome	Hyperlipidemia, Hypertriglyceridemia, Increased circulating chylomicron concentration	ORPHA:444490
Carney Complex, Type 1	Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism	OMIM:160980
Hermansky-Pudlak Syndrome 1	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n...	OMIM:203300
Dent Disease 1	Hypophosphatemia	OMIM:300009
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Alopecia, Abnormal hair morphology, Hyperlipidemia, Nail dystrophy, Hyperpigmentation...	ORPHA:90154
Cholestasis-Lymphedema Syndrome	Abnormality of skin pigmentation, Hyperlipidemia	ORPHA:1414
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Hypopigmentation of hair, Hypopigmented skin patches, Multiple cafe-au-lait spots, Freckling, Hyp...	ORPHA:3214
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Hyperkalemia, Xanthelasma, Steatorrhea, Hypercholesterolemia	ORPHA:275761
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin	OMIM:618541
Atypical Werner Syndrome	Abnormal hair quantity, Abnormality of retinal pigmentation, Alopecia, Hypertriglyceridemia, Abno...	ORPHA:79474
Primary Fanconi Renotubular Syndrome	Hypouricemia, Bicarbonaturia, Hypophosphatemia, Hypokalemia, Decreased circulating carnitine conc...	ORPHA:3337
Alport Syndrome 3A, Autosomal Dominant	Azotemia, Hypophosphatemia	OMIM:104200
Muenke Syndrome	Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule	ORPHA:53271
Waardenburg Syndrome, Type 4C	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:613266
Seckel Syndrome 10	Hypertriglyceridemia, Elevated hemoglobin A1c	OMIM:617253
Classical-Like Ehlers-Danlos Syndrome Type 2	Alopecia, Hypertriglyceridemia	ORPHA:536532
Pearson Syndrome	Hypomagnesemia, Steatorrhea, Pigmentary retinopathy, Hypokalemia, Hypocalcemia, Hypophosphatemia,...	ORPHA:699
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Hypercalcemia	ORPHA:369837
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia	OMIM:617591
Opsismodysplasia	Hypophosphatemia	OMIM:258480
Gaisböck Syndrome	Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hyperch...	ORPHA:90041
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia	OMIM:256300
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures	ORPHA:405
Raine Syndrome	Highly arched eyebrow, Hypophosphatemia	OMIM:259775
Hemophagocytic Syndrome Associated With An Infection	Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia	ORPHA:158048
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Sparse scalp hair, Hypoammonemia, Fine hair, Hypokalemia, Hyperaldosteronism, Hypop...	ORPHA:534
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Mildly elevated c...	ORPHA:79102
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia	ORPHA:86816
Hoyeraal-Hreidarsson Syndrome	Sparse scalp hair, Generalized hyperpigmentation, Premature graying of hair, Nail dystrophy, Gene...	ORPHA:3322
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Brittle hair, Hyperlipidemia, Sparse hair, Mottled pigmentation	OMIM:608612
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:98795
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Hyperlipidemia	ORPHA:2089
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating C-reactive pr...	OMIM:256040
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hypercholesterolemia	ORPHA:79259
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Breast aplasia, Gen...	ORPHA:238468
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormal eyebrow morphology, Alopecia, Absent eyelashes, Hyperlipidemia, Breast aplasia, Hyperpig...	ORPHA:90153
Mandibuloacral Dysplasia Progeroid Syndrome	Hypertriglyceridemia, Elevated hemoglobin A1c, Sparse eyebrow, Nail dystrophy, Sparse hair	OMIM:619127
Autosomal Recessive Malignant Osteopetrosis	Hypocalcemia, Abnormality of hair texture, Hypophosphatemia	ORPHA:667
Angelman Syndrome Due To A Point Mutation	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:411511
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Alopecia, Paradoxical increased cortisol secretion on dexamethasone suppression test, Hyperlipide...	ORPHA:189427
Glycerol Kinase Deficiency	Hypertriglyceridemia, Hyperglycerolemia	OMIM:307030
Lipodystrophy, Congenital Generalized, Type 2	Hypertriglyceridemia, Elevated hemoglobin A1c, Hirsutism	OMIM:269700
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Hypertriglyceridemia	OMIM:619418
Fructose Intolerance, Hereditary	Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia	OMIM:229600
Lipodystrophy, Congenital Generalized, Type 1	Hypertriglyceridemia, Hirsutism	OMIM:608594
Brittle Cornea Syndrome 1	Red hair	OMIM:229200
Immunodeficiency 87 And Autoimmunity	Hypokalemia, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration	OMIM:619573
Wiedemann-Rautenstrauch Syndrome	Sparse scalp hair, Absent eyebrow, Hypertriglyceridemia, Alopecia, Sparse eyelashes, Absent eyela...	OMIM:264090
Syndromic Diarrhea	Hypopigmentation of hair, Brittle hair, Abnormality of iron homeostasis, Uncombable hair, Woolly ...	ORPHA:84064
Lipodystrophy, Familial Partial, Type 7	Sparse scalp hair, Hypertriglyceridemia, Pigmentary retinopathy, Sparse hair, Hypercholesterolemia	OMIM:606721
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Sparse scalp hair, Alopecia, Hyperlipidemia, Hypercholesterolemia, Mottled pigmentati...	OMIM:248370
Hyperparathyroidism-Jaw Tumor Syndrome	Hypercalcemia, Hypophosphatemia	ORPHA:99880
Parathyroid Carcinoma	Hypercalcemia, Hypophosphatemia	ORPHA:143
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperlipidemia, Increased LDL chol...	ORPHA:77293
Autosomal Recessive Hypophosphatemic Rickets	Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia	ORPHA:289176
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:98794
Dent Disease	Renal hypophosphatemia, Elevated circulating creatine kinase concentration	ORPHA:1652
Alagille Syndrome 1	Hypercholesterolemia, Hypertriglyceridemia, Pigmentary retinopathy	OMIM:118450
Neutral Lipid Storage Myopathy	Hypertriglyceridemia, Abnormal circulating creatine kinase concentration	ORPHA:98908
Chediak-Higashi Syndrome	Hypopigmentation of hair, Silver-gray hair, Ocular albinism, Giant melanosomes in melanocytes, Hy...	OMIM:214500
Combined Deficiency Of Factor V And Factor Viii	Hyperlipidemia, Hyperuricemia	ORPHA:35909
Koolen-De Vries Syndrome	Hypopigmentation of hair, Abnormality of hair texture	ORPHA:96169
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	ORPHA:157
X-Linked Hypophosphatemia	Hypophosphatemia	ORPHA:89936
Hermansky-Pudlak Syndrome	Hypopigmentation of hair, Partial albinism, Ocular albinism, Melanocytic nevus, Long eyelashes, H...	ORPHA:79430
Wiedemann-Rautenstrauch Syndrome	Sparse scalp hair, Hypertriglyceridemia, Synophrys, Pigmentary retinopathy, Sparse hair, Hirsutis...	ORPHA:3455
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:235400
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	ORPHA:228308
Prader-Willi Syndrome	Hypopigmentation of hair, Frontal upsweep of hair, Generalized hypopigmentation, Hypopigmentation...	OMIM:176270
Brittle Cornea Syndrome	Abnormality of hair pigmentation	ORPHA:90354
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Abnormal eyebrow morphology, Hypopigmentation of hair, Hypopigmented skin patches, Premature gray...	ORPHA:163746
Woodhouse-Sakati Syndrome	Sparse hair, Alopecia, Hyperlipidemia, Fine hair	OMIM:241080
Vici Syndrome	Hypopigmentation of hair, Elevated circulating creatine kinase concentration, Albinism, Ocular al...	OMIM:242840
Aapoaiv Amyloidosis	Hyperlipidemia, Elevated circulating creatinine concentration	ORPHA:439232
Familial Multiple Lipomatosis	Hyperlipidemia	ORPHA:199276
Sim1-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:398079
Autosomal Recessive Faciodigitogenital Syndrome	Dry hair, Coarse hair, Hypopigmentation of hair, Widow's peak	ORPHA:1974
Prader-Willi Syndrome Due To Translocation	Hypopigmentation of hair, Stellate iris, Hypopigmentation of the skin, Hyperpigmentation of the s...	ORPHA:177907
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Ocular albinism, Iris hypopigmentation	ORPHA:2719
Magel2-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:398069
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:98754
Parenteral Nutrition-Associated Cholestasis	Conjugated hyperbilirubinemia, Hyperlipidemia, Abnormal circulating fatty-acid concentration	ORPHA:567983
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:98793
Glycogen Storage Disease Ia	Xanthelasma, Hyperlipidemia, Hyperuricemia	OMIM:232200
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:177901
Degcags Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Synophrys, Lo...	OMIM:619488
Prader-Willi Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:739
Glycogen Storage Disease Ib	Xanthelasma, Hyperlipidemia, Hyperuricemia	OMIM:232220
Aromatase Deficiency	Hyperlipidemia, Generalized hirsutism	ORPHA:91
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hyperlipidemia, Hypoalbuminemia	ORPHA:567546
Menkes Disease	Sparse hair, Woolly hair, Hypopigmentation of hair	ORPHA:565
Smith-Lemli-Opitz Syndrome	Abnormal eyelash morphology, Hypopigmentation of hair, Elevated circulating 7-dehydrocholesterol ...	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
Alström Syndrome	Hypertriglyceridemia, Frontal balding, Hyperlipidemia, Fine hair, Hirsutism	ORPHA:64
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	Tm9sf3^em1(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.

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MGI Allele	Allele Type	Produced
Tm9sf3^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Tm9sf3^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Tm9sf3^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Tm9sf3 MGI:1914262

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

MicroCT E14.5-E15.5

Gross Morphology Embryo E14.5-E15.5

Human diseases caused by Tm9sf3 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data