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Gene: Lrat MGI:1891259

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Gene Summary

Name:
lecithin-retinol acyltransferase (phosphatidylcholine-retinol-O-acyltransferase)
Synonyms:
1300010A18Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Lrattm1.1(KOMP)Vlcg HOM   Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Duodenum  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 50% (1 of 2)
Ileum  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Tongue  Section images heterozygote 50% (1 of 2)
Vagina  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Jejunum N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood 0.0%
bone marrow 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cecum 5.73% (22 of 384)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
chest bone Unavailable
colon 15.71% (22 of 140)
diaphragm 0.0%
duodenum 3.57% (5 of 140)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.71% (1 of 140)
heart 0.33% (2 of 598)
hindlimb 0.0%
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
ileum 14.29% (20 of 140)
jejunum 8.57% (12 of 140)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.31% (1 of 323)
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
stomach pyloric region 0.0%
striatum 0.5% (3 of 598)
sublingual gland 0.0%
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
tongue 3.57% (5 of 140)
trachea 0.5% (3 of 598)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vagina 0.0%
vas deferens 4.56% (18 of 395)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images
Adult LacZ

LacZ Images Section

39 Images

View images

Human diseases caused by Lrat 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.

The table below shows human diseases associated to Lrat by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Leber Congenital Amaurosis
Abnormal optic disc morphology, Abnormality of retinal pigmentation ORPHA:65
Retinitis Pigmentosa
Hyperinsulinemia, Hypogonadism, Abnormal testis morphology, Type II diabetes mellitus, Hypoplasia... ORPHA:791
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal pigment epithelial atrophy, Optic disc drusen, Abnormal macular morphology, Retinal degen... ORPHA:364055
Leber Congenital Amaurosis 14
Retinal dystrophy, Rod-cone dystrophy, Optic disc pallor OMIM:613341

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant
Low levels of vitamin A OMIM:115300
Fructosuria, Essential
Impairment of fructose metabolism OMIM:229800
Partial Chromosome Y Deletion
Abnormal spermatogenesis, Decreased testicular size, Non-obstructive azoospermia, Oligospermia, M... ORPHA:1646
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Testicular Torsion
Testicular torsion, Torsion of appendix of testis OMIM:187400
Carpal Tunnel Syndrome
Reduced circulating vitamin B6 level OMIM:115430
Spermatogenic Failure 25
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Male infert... OMIM:617960
Hypogonadism, Male
Male hypogonadism, Testicular atrophy, Hypospadias, Micropenis OMIM:241100
Spermatogenic Failure 63
Decreased testicular size, Oligospermia, Male infertility, Reduced progressive sperm motility OMIM:619689
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Spermatogenic Failure 30
Spermatogenesis maturation arrest, Azoospermia, Cryptozoospermia, Male infertility, Cryptorchidism OMIM:618110
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Osteoporosis, Juvenile
Low serum calcitriol OMIM:259750
Spermatogenic Failure 51
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Macroceph... OMIM:619177
Spermatogenic Failure 65
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... OMIM:619712
Spermatogenic Failure 54
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,... OMIM:619379
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:301059
Spermatogenic Failure 56
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:619515
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Spermatogenic Failure 40
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Coiled sperm flagell... OMIM:618664
Spermatogenic Failure 76
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:620084
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe... OMIM:618643
Male Infertility Due To Acephalic Spermatozoa
Abnormal sperm mid-piece morphology, Androgen insufficiency, Reduced sperm motility, Oligospermia... ORPHA:529970
Spermatogenic Failure 58
Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog... OMIM:619585
Spermatogenic Failure 47
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm OMIM:619102
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia OMIM:619108
Choroidal Dystrophy, Central Areolar, 1
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy OMIM:215500
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Spermatogenic Failure 41
Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm OMIM:618670
Spermatogenic Failure 8
Oligospermia, Cryptozoospermia, Azoospermia OMIM:613957
Spermatogenic Failure 11
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:614822
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Spermatogenic Failure 32
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia OMIM:619831
Isochromosomy Yp
Primary gonadal insufficiency, Ambiguous genitalia, Decreased testicular size, Azoospermia, Male ... ORPHA:98797
Isolated Follicle Stimulating Hormone Deficiency
Female hypogonadism, Gonadotropin deficiency, Decreased serum estradiol, Decreased testicular siz... ORPHA:52901
Spermatogenic Failure 7
Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm OMIM:612997
Spermatogenic Failure 70
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility OMIM:619828
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Low levels of vitamin A OMIM:277350
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Kennedy Disease
Decreased fertility, Testicular atrophy, Erectile dysfunction, Type II diabetes mellitus ORPHA:481
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology OMIM:619696
Isochromosomy Yq
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Primary gonadal insuffici... ORPHA:98798
Pernicious Anemia
Malabsorption of Vitamin B12 OMIM:170900
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Abnormal spermatogenesis, Decreased testicular size, Azoospermia, Non-obstructive azoospermia, In... ORPHA:399805
Spermatogenic Failure 77
Azoospermia, Oligospermia, Male infertility, Abnormal circulating testosterone concentration, Abn... OMIM:620103
Stargardt Disease 1
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy OMIM:248200
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Macular atrophy, Pigmentary retinopathy, Attenuation of re... OMIM:613830
Fructose And Galactose Intolerance
Fructose intolerance, Galactose intolerance OMIM:229500
Spermatogenic Failure 38
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... OMIM:618433
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
Bile Acid Malabsorption, Primary, 2
Low levels of vitamin E, Low levels of vitamin A, Low levels of vitamin D OMIM:619481
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Hypo... OMIM:308700
Familial Male-Limited Precocious Puberty
Macroorchidism, Precocious puberty, Long penis, Oligospermia, Male infertility ORPHA:3000
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Primary amenorrhea, Microphallus, Decreased testicular size, Absence of pubertal development, Cry... OMIM:614840
Spermatogenic Failure 2
Azoospermia, Non-obstructive azoospermia, Oligospermia, Male infertility, Abnormal circulating te... OMIM:108420
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619937
Diamond-Blackfan Anemia 9
Low levels of vitamin D OMIM:613308
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular s... ORPHA:399808
Spermatogenic Failure 12
Abnormal male germ cell morphology, Infertility, Azoospermia OMIM:615413
Kallmann Syndrome With Spastic Paraplegia
Decreased circulating follicle stimulating hormone concentration, Hypothalamic gonadotropin-relea... OMIM:308750
Spermatogenic Failure 72
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Irregular... OMIM:619867
Spermatogenic Failure 34
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:618153
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Hypercholanemia, Familial, 2
Low levels of vitamin D OMIM:619256
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Spermatogenic Failure 42
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf... OMIM:618745
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia ORPHA:48
Hemochromatosis, Type 1
Impotence, Azoospermia, Testicular atrophy, Diabetes mellitus, Hypogonadotropic hypogonadism, Ame... OMIM:235200
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, Gonadoblastoma, Abnormal spermatogenesis, Ambiguou... ORPHA:261529
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Imerslund-Grasbeck Syndrome 2
Vitamin B12 deficiency OMIM:618882
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Spermatogenic Failure 13
Azoospermia OMIM:615841
Deleted in azoospermia
Azoospermia OMIM:400003
Stargardt Disease
Retinal pigment epithelial atrophy, Abnormal foveal morphology, Retinal thinning, Abnormal choroi... ORPHA:827
Imerslund-Grasbeck Syndrome 1
Abnormal blood folate concentration, Vitamin B12 deficiency, Malabsorption of Vitamin B12 OMIM:261100
Hypobetalipoproteinemia, Familial, 1
Low levels of vitamin E, Low levels of vitamin A OMIM:615558
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Abnormality of vitamin E metabolism, Abnormality of vitamin A metabolism ORPHA:209902
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Diarrhea 6
Vitamin B12 deficiency OMIM:614616
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Male infertility, Obstructive azoospermia OMIM:301060
Testicular Regression Syndrome
Decreased fertility, Ambiguous genitalia, Decreased testicular size, Abnormal male internal genit... ORPHA:983
Adrenal Hypoplasia, Congenital
Precocious puberty, Decreased circulating aldosterone level, Adrenal insufficiency, Decreased cir... OMIM:300200
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Decreased testicu... OMIM:229070
Morbid Obesity And Spermatogenic Failure
Oligospermia, Infertility, Azoospermia, Type II diabetes mellitus OMIM:615703
Spermatogenic Failure 28
Decreased testicular size, Non-obstructive azoospermia, Male infertility, Elevated circulating lu... OMIM:618086
Premature Ovarian Failure 10
Hypothyroidism, Decreased testicular size, Premature ovarian insufficiency, Azoospermia, Hypoplas... OMIM:612885
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Low levels of vitamin E, Low levels of vitamin A ORPHA:352641
Formiminoglutamic Aciduria
Abnormality of folate metabolism, Increased blood folate concentration ORPHA:51208
Wolfram Syndrome 1
Testicular atrophy, Hypothyroidism, Diabetes mellitus, Diabetes insipidus OMIM:222300
Aarskog-Scott Syndrome
Shawl scrotum, Bilateral cryptorchidism, Decreased serum testosterone concentration, Testicular a... OMIM:305400
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Urogenital sinus anomaly, Decreased fertility, Ambiguous genitalia, Perineal hypospadias, Bifid s... ORPHA:753
Spermatogenic Failure 75
Early spermatogenesis maturation arrest, Elevated circulating follicle stimulating hormone level,... OMIM:619949
Symptomatic Form Of Hemochromatosis Type 1
Hypothyroidism, Infertility, Erectile dysfunction, Testicular atrophy, Diabetes mellitus, Decreas... ORPHA:465508
Androgen Insensitivity, Partial
Hypogonadism, Bifid scrotum, Perineal hypospadias, Infertility, Azoospermia, Male pseudohermaphro... OMIM:312300
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased t... OMIM:614837
Retinitis Pigmentosa 87 With Choroidal Involvement
Chorioretinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Nummular ... OMIM:618697
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Abnormal circul... OMIM:616950
Pancreatic Triacylglycerol Lipase Deficiency
Low levels of vitamin E, Low levels of vitamin A, Low levels of vitamin D, Low levels of vitamin K ORPHA:309031
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Decreased testicular size, Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptorchidism OMIM:614858
Functioning Gonadotropic Adenoma
Impotence, Anterior hypopituitarism, Decreased female libido, Oligospermia, Increased circulating... ORPHA:91348
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Abnormal spermatogenesis, Decreased circulating dihydrotestosterone co... OMIM:228300
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s... OMIM:614897
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis ORPHA:242
47,Xyy Syndrome
Macroorchidism, Increased serum testosterone level, Azoospermia, Oligospermia, Increased circulat... ORPHA:8
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Secondary amenorrhea, Premature ovarian insufficiency, Testicular atrophy, Hypergonadotropic hypo... OMIM:157640
Vitamin D-Dependent Rickets, Type 3
Decreased circulating calcifediol concentration, Low serum calcitriol OMIM:619073
Maternal Uniparental Disomy Of Chromosome 4
Low levels of vitamin E, Low levels of vitamin A, Low levels of vitamin K ORPHA:96180
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Oligospermia, Cryptorchidism OMIM:314300
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Abnormal flash visual evoked potentials, Macular degeneration, Bone spicul... OMIM:618195
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Absent vas deferens, Male infertility, Azoospermia OMIM:277180
Young Syndrome
Azoospermia OMIM:279000
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Leydig Cell Hypoplasia
Ambiguous genitalia, Breast aplasia, Increased circulating gonadotropin level, Primary amenorrhea... ORPHA:755
Spermatogenic Failure 14
Azoospermia, Late spermatogenesis maturation arrest, Abnormal prolactin level, Male infertility, ... OMIM:615842
46,Xx Sex Reversal 4
Ambiguous genitalia, Fused labia majora, Penoscrotal hypospadias, Gonadal dysgenesis, Ovotestis, ... OMIM:617480
46,Xy Sex Reversal 10
Ambiguous genitalia, Gonadoblastoma, Sex reversal, Bifid scrotum, Decreased testicular size, Hypo... OMIM:616425
46,Xy Partial Gonadal Dysgenesis
Ambiguous genitalia, Gonadoblastoma, Adrenal insufficiency, Increased circulating gonadotropin le... ORPHA:251510
46,Xy Sex Reversal 8
Ambiguous genitalia, Male pseudohermaphroditism, Sex reversal, Cryptorchidism OMIM:614279
Hypercholanemia, Familial 1
Low levels of vitamin K OMIM:607748
Optic Atrophy 8
Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentials, Prolonged s... OMIM:616648
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Decreased fertility, Ambiguous genitalia, Bifid scrotum, Abnormal male ... ORPHA:2138
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Partial Androgen Insensitivity Syndrome
Ambiguous genitalia, Male sexual dysfunction, Blind vagina, Primary amenorrhea, Increased circula... ORPHA:90797
Riboflavin Deficiency
Low levels of vitamin B2 OMIM:615026
Intrinsic Factor Deficiency
Vitamin B12 deficiency, Malabsorption of Vitamin B12 OMIM:261000
Normosmic Congenital Hypogonadotropic Hypogonadism
Female hypogonadism, Primary amenorrhea, Impotence, Secondary amenorrhea, Decreased testicular si... ORPHA:432
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Low levels of vitamin K ORPHA:565899
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Increased circulating prolactin concentration, Hypogonadism, Hyperpitui... ORPHA:91351
Abetalipoproteinemia
Low levels of vitamin E, Low levels of vitamin A, Low levels of vitamin D ORPHA:14
Shwachman-Diamond Syndrome
Low levels of vitamin E, Low levels of vitamin A, Low levels of vitamin D, Low levels of vitamin K ORPHA:811
X-Linked Intellectual Disability, Snyder Type
Testicular atrophy, Hypospadias, Abnormality of the Leydig cells, Cryptorchidism ORPHA:3063
Spermatogenic Failure, X-Linked, 4
Azoospermia, Abnormal prolactin level, Male infertility, Elevated circulating luteinizing hormone... OMIM:301077
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Hypergonadotropic hypogonadism OMIM:613724
Primary Sclerosing Cholangitis
Low levels of vitamin E, Low levels of vitamin A, Low levels of vitamin D, Low levels of vitamin K ORPHA:171
Generalized Eruptive Histiocytosis
Abnormal vitamin B12 level ORPHA:157991
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the vagina, Bifid scrotum, True hermaphroditism, Azoospermia, Decreas... OMIM:278850
Canavan Disease
Abnormality of visual evoked potentials, Optic atrophy, Abnormality of retinal pigmentation ORPHA:141
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Ambiguous genitalia,... ORPHA:90791
Congenital Bile Acid Synthesis Defect Type 3
Abnormality of vitamin metabolism ORPHA:79302
Obesity Due To Sim1 Deficiency
Low levels of vitamin B1 ORPHA:369873
Steinert Myotonic Dystrophy
Decreased fertility, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Imp... ORPHA:273
Autosomal Recessive Polycystic Kidney Disease
Low levels of vitamin E, Low levels of vitamin A, Low levels of vitamin D, Low levels of vitamin K ORPHA:731
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Abnormal retinal nerve fiber layer morphology, Optic atrophy, Absent ... ORPHA:1215
Generalized Glucocorticoid Resistance Syndrome
Ambiguous genitalia, Precocious puberty, Decreased circulating aldosterone level, Increased circu... ORPHA:786
46,Xx Sex Reversal 1
Sex reversal, Bicornuate uterus, True hermaphroditism, Azoospermia, Hypospadias, Elevated circula... OMIM:400045
Testicular Agenesis
Urogenital sinus anomaly, Ambiguous genitalia, Absent external genitalia, Urethrovaginal fistula,... ORPHA:325124
Bile Acid Synthesis Defect, Congenital, 6
Low levels of vitamin D OMIM:617308
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Abnormality of visual e... OMIM:601455
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormality of visual evoked potentials, Abnormality of soma... ORPHA:320401
Rajab Interstitial Lung Disease With Brain Calcifications 1
Low levels of vitamin A, Low levels of vitamin D OMIM:613658
Maxillonasal Dysplasia
Low levels of vitamin K ORPHA:1248
Myotonic Dystrophy 2
Oligospermia, Elevated circulating follicle stimulating hormone level, Hypogonadism, Type II diab... OMIM:602668
Oculocutaneous Albinism Type 1
Depigmented fundus, Optic nerve misrouting, Hypoplasia of the fovea, Abnormal morphology of the c... ORPHA:352731
Hereditary Amyloidosis With Primary Renal Involvement
Primary testicular failure, Hypogonadism, Abnormal testis morphology, Oligospermia, Male infertility ORPHA:85450
Lead Poisoning
Decreased female libido, Infertility, Decreased circulating osteocalcin level, Abnormality of the... ORPHA:330015
Primary Intestinal Lymphangiectasia
Abnormality of vitamin metabolism, Low levels of vitamin D ORPHA:90362
Secondary Short Bowel Syndrome
Abnormality of vitamin metabolism ORPHA:95427
Chylomicron Retention Disease
Abnormality of vitamin metabolism ORPHA:71
Developmental And Epileptic Encephalopathy 3
Abnormality of visual evoked potentials OMIM:609304
Bile Acid Synthesis Defect, Congenital, 4
Low levels of vitamin E, Decreased circulating calcifediol concentration OMIM:214950
Leber Congenital Amaurosis
Abnormal optic disc morphology, Abnormality of retinal pigmentation ORPHA:65
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Ambiguous genitalia, Decreased circulating dehydroepiandrosterone-sulfate concentration, Decrease... ORPHA:95699
Osteoporosis-Pseudoglioma Syndrome
Low serum calcitriol ORPHA:2788
Liver Disease, Severe Congenital
Low levels of vitamin E, Low levels of vitamin A, Low levels of vitamin D OMIM:619991
Deafness-Hypogonadism Syndrome
Low levels of vitamin B1 ORPHA:90646
Gapo Syndrome
Oligospermia, Dysmenorrhea, Amenorrhea, Hypogonadism ORPHA:2067
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Decreased methylcobalamin, Methylmalonic acidemia OMIM:236270
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic disc pallor, Abnormality of visual evoked potent... OMIM:601152
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormal auditory evoked potentials, Optic disc pallor, Abnormality of visual evoked potentials OMIM:617523
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormality of visual evoked potentials ORPHA:1389
Folate Malabsorption, Hereditary
Reduced blood folate concentration OMIM:229050
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypothyroidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Increased circu... ORPHA:1772
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Decreased methylcobalamin OMIM:250940
Retinitis Pigmentosa
Hyperinsulinemia, Hypogonadism, Abnormal testis morphology, Type II diabetes mellitus, Hypoplasia... ORPHA:791
Carney Complex
Precocious puberty, Neoplasm of the pancreas, Oligospermia, Follicular thyroid carcinoma, Ovarian... ORPHA:1359
Peroxisomal Acyl-Coa Oxidase Deficiency
Abnormality of visual evoked potentials, Optic atrophy ORPHA:2971
Ataxia With Vitamin E Deficiency
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation ORPHA:96
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
High serum calcitriol OMIM:600785
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Abnormal blood folate concentration, Decreased CSF 5-methyltetrahydrofolate concentration OMIM:613839
Autosomal Dominant Hypophosphatemic Rickets
Low levels of vitamin D ORPHA:89937
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity, Abnormality of visual evoked potentials ORPHA:1933
Classic Galactosemia
Low levels of vitamin D ORPHA:79239
Marchiafava-Bignami Disease
Low levels of vitamin B1 ORPHA:221074
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
High serum calcifediol, High serum calcitriol OMIM:241530
Celiac Disease, Susceptibility To, 1
Vitamin B12 deficiency, Low levels of vitamin D, Reduced blood folate concentration, Low levels o... OMIM:212750
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal pigment epithelial atrophy, Optic disc drusen, Abnormal macular morphology, Retinal degen... ORPHA:364055
Congenital Disorder Of Glycosylation, Type Iit
Low levels of vitamin D, Abnormal protein O-linked glycosylation OMIM:618885
Mepan Syndrome
Abnormality of visual evoked potentials, Optic atrophy ORPHA:508093
Neurodegeneration With Brain Iron Accumulation 2A
Decreased nerve conduction velocity, Abnormality of visual evoked potentials, Optic atrophy OMIM:256600
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Decreased adenosylcobalamin, Decreased methylcobalamin, Methylmalonic acidemia OMIM:277410
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
High serum calcitriol OMIM:617994
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Decreased circulating calcifediol concentration, Low serum calcitriol OMIM:264700
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Abnormality of visual evoked potentials, Abnormality of soma... ORPHA:52368
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Decreased adenosylcobalamin, Decreased methylcobalamin, Methylmalonic acidemia OMIM:614857
Oculocutaneous Albinism Type 1A
Abnormal optic nerve morphology, Hypoplasia of the fovea, Abnormality of visual evoked potentials... ORPHA:79431
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Oligospermia, Diabetes mellitus, Breast hypoplasia, Clitoral hypoplasia OMIM:614813
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Decreased circulating calcifediol concentration OMIM:600081
Congenital Bile Acid Synthesis Defect Type 4
Low levels of vitamin K ORPHA:79095
Fanconi Renotubular Syndrome 2
High serum calcitriol OMIM:613388
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Decreased nerve conduction velocity, Abnormality of visual evoked potentials, Optic atrophy, Opti... ORPHA:485421
Hyperprolinemia Type 2
Reduced circulating vitamin B6 level ORPHA:79101
Hereditary Hypophosphatemic Rickets With Hypercalciuria
High serum calcitriol ORPHA:157215
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Nonarteritic anterior ischemic optic neuropathy, Abnormality of visual evoked potentials OMIM:125310
Infantile Neuroaxonal Dystrophy
Abnormal autonomic nervous system physiology, Abnormality of peripheral nerve conduction, Abnorma... ORPHA:35069
Xq12-Q13.3 Duplication Syndrome
Optic disc pallor, Abnormality of visual evoked potentials ORPHA:314389
Pelizaeus-Merzbacher Disease
Abnormality of visual evoked potentials, Optic atrophy ORPHA:702
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Abnormal vitamin B12 level ORPHA:544503
Friedreich Ataxia
Decreased sensory nerve conduction velocity, Decreased amplitude of sensory action potentials, Ab... OMIM:229300
Imerslund-Gräsbeck Syndrome
Vitamin B12 deficiency, Malabsorption of Vitamin B12, Abnormal blood 5-methyltetrahydrofolate level ORPHA:35858
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Abnormality of visual evoked potentials, Optic atrophy OMIM:616875
Megaloblastic Anemia, Folate-Responsive
Vitamin B12 deficiency OMIM:601775
Late Infantile Neuronal Ceroid Lipofuscinosis
Retinal degeneration, Abnormality of visual evoked potentials, Abnormal amplitude of flash visual... ORPHA:168491
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Abnormality of vitamin D metabolism ORPHA:541423
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
High serum calcitriol OMIM:211900
Congenital Bile Acid Synthesis Defect Type 2
Low levels of vitamin E ORPHA:79303
Vitamin D-Dependent Rickets, Type 2A
High serum calcitriol OMIM:277440
Micro Syndrome
Abnormality of visual evoked potentials, Retinal coloboma, Optic atrophy, Abnormality of retinal ... ORPHA:2510
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Abnormality ... ORPHA:206443
Achalasia-Addisonianism-Alacrima Syndrome
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Abnormality of visual evok... OMIM:231550
African Iron Overload
Low levels of vitamin C ORPHA:139507
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Abnormality of visual evoked potentials OMIM:614457
Leber Congenital Amaurosis 14
Retinal dystrophy, Rod-cone dystrophy, Optic disc pallor OMIM:613341
Refractory Celiac Disease
Low serum calcitriol ORPHA:398063
Pyruvate Dehydrogenase E2 Deficiency
Low levels of vitamin B1 ORPHA:79244
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Decreased methylcobalamin OMIM:617780
Bloom Syndrome
Premature ovarian insufficiency, Azoospermia, Oligospermia, Diabetes mellitus, Male infertility ORPHA:125
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Abnormality of visual evoked potentials, Optic atrophy ORPHA:480898
Hypophosphatemic Rickets, X-Linked Recessive
High serum calcitriol OMIM:300554
Chondrodysplasia Punctata, Autosomal Dominant
Low levels of vitamin K OMIM:118650
Methylmalonic Acidemia With Homocystinuria Type Cblf
Decreased adenosylcobalamin, Vitamin B12 deficiency, Decreased methylcobalamin ORPHA:79284
Ataxia With Vitamin E Deficiency
Low levels of vitamin E OMIM:277460
Infantile Krabbe Disease
Optic atrophy, Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potential... ORPHA:206436
Diamond-Blackfan Anemia 7
Low levels of vitamin D OMIM:612562
Metachromatic Leukodystrophy, Late Infantile Form
Decreased nerve conduction velocity, Abnormality of visual evoked potentials, Optic atrophy ORPHA:309256
Metachromatic Leukodystrophy, Juvenile Form
Decreased nerve conduction velocity, Abnormality of visual evoked potentials, Optic atrophy ORPHA:309263
Dent Disease 1
High serum calcitriol OMIM:300009
Cln5 Disease
Abnormality of visual evoked potentials ORPHA:228360
Epidermal Nevus Syndrome
Low levels of vitamin D ORPHA:35125
Ruvalcaba Syndrome
Abnormality of visual evoked potentials ORPHA:3121
Hypocalcemic Vitamin D-Dependent Rickets
Low serum calcitriol ORPHA:289157
Autosomal Recessive Hypophosphatemic Rickets
Abnormality of vitamin D metabolism, Low serum calcitriol ORPHA:289176
Eiken Syndrome
Low levels of vitamin D OMIM:600002
Infantile Nephropathic Cystinosis
Abnormality of vitamin D metabolism ORPHA:411629
White-Sutton Syndrome
Rod-cone dystrophy, Abnormality of visual evoked potentials, Optic nerve hypoplasia OMIM:616364
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Decreased adenosylcobalamin, Decreased methylcobalamin, Methylmalonic acidemia OMIM:277380
Metachromatic Leukodystrophy, Adult Form
Orthostatic hypotension due to autonomic dysfunction, Decreased nerve conduction velocity, Abnorm... ORPHA:309271
Methylmalonic Aciduria, Cblb Type
Decreased adenosylcobalamin, Methylmalonic acidemia OMIM:251110
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Low levels of vitamin E, Abnormality of amino acid metabolism ORPHA:309854
Mogs-Cdg
Absent brainstem auditory responses, Abnormality of visual evoked potentials, Optic atrophy ORPHA:79330
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Abnormality of vitamin metabolism, Low levels of vitamin D ORPHA:79408
Transcobalamin Ii Deficiency
Abnormal blood folate concentration OMIM:275350
Methylmalonic Aciduria, Cbla Type
Decreased adenosylcobalamin, Methylmalonic acidemia OMIM:251100
Tetrasomy 9P
Absent gallbladder, Infertility, Oligospermia, Cryptorchidism, Micropenis ORPHA:3310
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Reduced blood folate concentration OMIM:301056
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Low levels of vitamin D ORPHA:89842
Mucopolysaccharidosis Type 3
Low levels of vitamin D ORPHA:581
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Decreased adenosylcobalamin, Decreased methylcobalamin, Methylmalonic acidemia OMIM:277400
Dent Disease
High serum calcitriol ORPHA:1652
Cerebrotendinous Xanthomatosis
Abnormality of somatosensory evoked potentials, Optic atrophy, Abnormal auditory evoked potential... ORPHA:909
Hypophosphatemic Rickets
Low levels of vitamin D, Low serum calcitriol ORPHA:437
Multiple Myeloma
Abnormality of vitamin B12 metabolism ORPHA:29073
Cockayne Syndrome A
Optic atrophy, Retinal atrophy, Abnormal auditory evoked potentials, Retinal pigment epithelial m... OMIM:216400
Hermansky-Pudlak Syndrome
Abnormal optic nerve morphology, Abnormality of visual evoked potentials, Ocular albinism ORPHA:79430
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Vitamin B12 deficiency OMIM:618922
Juvenile Nephropathic Cystinosis
Low levels of vitamin D ORPHA:411634
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Abnormality of visual evoked potentials, Facial palsy ORPHA:258
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Low levels of vitamin D ORPHA:79259
Oculocerebrorenal Syndrome Of Lowe
Low levels of vitamin D ORPHA:534
Cockayne Syndrome B
Optic atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Abnormal... OMIM:133540
Metachromatic Leukodystrophy
Decreased nerve conduction velocity, Abnormality of visual evoked potentials ORPHA:512
Alström Syndrome
Precocious puberty in females, Irregular menstruation, Hyperinsulinemia, Elevated circulating thy... ORPHA:64
Adrenomyeloneuropathy
Vitamin B12 deficiency ORPHA:139399
Autosomal Dominant Cutis Laxa
Low levels of vitamin D ORPHA:90348
Congenital Erythropoietic Porphyria
Low levels of vitamin D ORPHA:79277
Autoimmune Lymphoproliferative Syndrome
Abnormal vitamin B12 level ORPHA:3261
Autosomal Recessive Malignant Osteopetrosis
Optic nerve compression, Abnormality of visual evoked potentials ORPHA:667
Pearson Syndrome
Malabsorption of Vitamin B12 ORPHA:699
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Abnormality of visual evoked potentials OMIM:203700
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Low levels of vitamin D ORPHA:438213
Acute Transverse Myelitis
Vitamin B12 deficiency ORPHA:139417
Degcags Syndrome
Reduced blood folate concentration OMIM:619488

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Lrat

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 Lrat.

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

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MGI Allele Allele Type Produced
Lrattm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Lrattm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Lrattm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Lrattm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue
Lrattm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Lrattm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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