Gene Summary

Name:
late endosomal/lysosomal adaptor, MAPK and MTOR activator 1
Synonyms:
p18,  2400001E08Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
enlarged epididymis Lamtor1tm1b(KOMP)Wtsi HET Early adult 0.00
abnormal epididymis morphology Lamtor1tm1b(KOMP)Wtsi HET Early adult 0.00
embryonic lethality prior to tooth bud stage Lamtor1tm1b(KOMP)Wtsi HOM   E12.5 0.00
enlarged ovary Lamtor1tm1b(KOMP)Wtsi HET Early adult 0.00
small superior vagus ganglion Lamtor1tm1b(KOMP)Wtsi HET Early adult 0.00
preweaning lethality, complete penetrance Lamtor1tm1b(KOMP)Wtsi HOM   Early adult 0.00
embryonic lethality prior to organogenesis Lamtor1tm1b(KOMP)Wtsi HOM   E9.5 0.00
abnormal ovary morphology Lamtor1tm1b(KOMP)Wtsi HET Early adult 0.00
hydrometra Lamtor1tm1b(KOMP)Wtsi HET Early adult 0.00
abnormal testis morphology Lamtor1tm1b(KOMP)Wtsi HET Early adult 0.00
enlarged testis Lamtor1tm1b(KOMP)Wtsi HET Early adult 0.00

Download data as:  TSV  XLS

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

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 100% (2 of 2)
Aorta  Section images heterozygote 50% (1 of 2)
Brown adipose tissue  Section images heterozygote 50% (1 of 2)
Cecum  Section images heterozygote 50% (1 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Colon  Section images heterozygote 100% (2 of 2)
Diaphragm  Section images heterozygote 50% (1 of 2)
Duodenum  Section images heterozygote 50% (1 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Gonadal fat pad  Section images heterozygote 100% (2 of 2)
Harderian gland  Section images heterozygote 100% (2 of 2)
Ileum  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 50% (1 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Mammary gland  Section images heterozygote 50% (1 of 2)
Mesenteric adipose tissue  Section images heterozygote 50% (1 of 2)
Mesenteric lymph node  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 50% (1 of 2)
Parathyroid gland  Section images heterozygote 100% (2 of 2)
Parotid gland  Section images heterozygote 100% (2 of 2)
Penis  Section images heterozygote 50% (1 of 2)
Pituitary gland  Section images heterozygote 100% (2 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Quadriceps  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Sublingual gland  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Thyroid gland  Section images heterozygote 50% (1 of 2)
Tongue  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Trigeminal V nerve  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vagina  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Vesicular gland  Section images heterozygote 50% (1 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 Not available
Brainstem N/A heterozygote Not available
Cartilage tissue N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Gall bladder N/A heterozygote Not available
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 Not available
Large intestine N/A heterozygote Not available
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote Not available
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote Not available
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Vascular system N/A heterozygote Not available
White adipose tissue N/A heterozygote Not available

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

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
Ear N/A heterozygote 100% (2 of 2)
Embryo N/A heterozygote Ambiguous
Eye N/A heterozygote 100% (2 of 2)
Footplate N/A heterozygote 100% (2 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Gut N/A heterozygote 100% (2 of 2)
Handplate N/A heterozygote 100% (2 of 2)
Head N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindlimb N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Mandibular process N/A heterozygote 100% (2 of 2)
Maxillary process N/A heterozygote 100% (2 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Nose N/A heterozygote 100% (2 of 2)
Oral cavity N/A heterozygote 100% (2 of 2)
Skeleton N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Tail somite N/A heterozygote 100% (2 of 2)
Tail N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Urinary system N/A heterozygote 100% (2 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood 0.0%
bone marrow 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cecum 2.97% (11 of 370)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
chest bone Unavailable
colon 8.73% (11 of 126)
diaphragm 0.0%
duodenum 0.79% (1 of 126)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 584)
hindlimb 0.0%
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
ileum 10.32% (13 of 126)
jejunum 3.97% (5 of 126)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
stomach pyloric region 0.0%
striatum 0.51% (3 of 584)
sublingual gland 0.0%
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
tongue 3.97% (5 of 126)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.67% (14 of 381)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
axial skeleton 1.59% (1 of 63)
brain 1.18% (6 of 507)
central nervous system ganglion 1.39% (1 of 72)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
gut 1.72% (1 of 58)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
nose 1.3% (1 of 77)
oral cavity 0.2% (1 of 502)
skeleton 1.3% (1 of 77)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)
trachea 1.72% (1 of 58)
urinary system 1.72% (1 of 58)

Associated Images

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

Adult LacZ

LacZ Images Section

151 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

Human diseases caused by Lamtor1 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 Lamtor1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Testicular Torsion
Torsion of appendix of testis, Testicular torsion OMIM:187400
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Mental Retardation, X-Linked 14
Macroorchidism OMIM:300062
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
46,Xx Testicular Disorder Of Sex Development
Ambiguous genitalia, Decreased testicular size, Male hypogonadism, Polycystic ovaries ORPHA:393
Mental Retardation, X-Linked 2
Macroorchidism OMIM:300428
Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome
Decreased testicular size ORPHA:436144
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Cryptorchidism, Micropenis OMIM:202150
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Cryptorchidism, Unilateral Or Bilateral
Cryptorchidism, Unilateral cryptorchidism OMIM:219050
Prolactin Deficiency With Obesity And Enlarged Testes
Reduced circulating prolactin concentration, Macroorchidism OMIM:264120
Familial Male-Limited Precocious Puberty
Precocious puberty, Macroorchidism, Long penis, Oligospermia ORPHA:3000
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries OMIM:184700
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Absent testis, Abnormality... ORPHA:983
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Testicular dysgenesis, Male pseudohermaphroditism, Polycystic ovaries ORPHA:242
Diethylstilbestrol Syndrome
Cryptorchidism, Abnormality of the uterus, Abnormal reproductive system morphology, Abnormal test... ORPHA:1916
Hepatic Adenomas, Familial
Polycystic ovaries OMIM:142330
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged kidney, Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, ... ORPHA:90301
Partington Syndrome
Macroorchidism ORPHA:94083
Testicular Anomalies With Or Without Congenital Heart Disease
Cryptorchidism, Ambiguous genitalia, Microphallus, Perineal hypospadias, Testicular dysgenesis, M... OMIM:615542
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism OMIM:300238
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Cardiomegaly OMIM:300886
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Cryptorchidism, Microphallus, Hypogonadotropic hypogonadism, Decreased testicular size, Micropenis OMIM:614840
Premature Ovarian Failure 2A
Premature ovarian insufficiency OMIM:300511
46,Xx Ovotesticular Disorder Of Sex Development
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:2138
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Decreased testicular size, Abnormality of the ovary ORPHA:1875
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Gonadoblastoma
Ambiguous genitalia, Abnormality of the ovary, Dysgerminoma, Female external genitalia in individ... ORPHA:206484
Partial Chromosome Y Deletion
Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Abnormal sp... ORPHA:1646
Megalencephaly
Macroorchidism, Long penis ORPHA:2477
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Spermatogenic Failure 25
Decreased testicular size, Azoospermia, Cryptozoospermia OMIM:617960
Isochromosomy Yp
Ambiguous genitalia, Decreased testicular size, Azoospermia ORPHA:98797
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Premature ovarian insufficiency ORPHA:75325
Isochromosomy Yq
Ambiguous genitalia, Azoospermia, Gonadal tissue inappropriate for external genitalia or chromoso... ORPHA:98798
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Spermatogenic Failure 50
Decreased testicular size, Azoospermia, Spermatogenesis maturation arrest OMIM:619145
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Premature Ovarian Failure 5
Premature ovarian insufficiency OMIM:611548
Ovarian Dysgenesis 2
Gonadal hypoplasia, Abnormality of the uterus, Hypergonadotropic hypogonadism, Hypoplasia of the ... OMIM:300510
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Functioning Gonadotropic Adenoma
Panhypopituitarism, Ovarian cyst, Increased circulating gonadotropin level, Anterior hypopituitar... ORPHA:91348
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism OMIM:300624
Premature Ovarian Failure 3
Hypoplasia of the uterus, Premature ovarian insufficiency OMIM:608996
Tetragametic Chimerism
Cryptorchidism, Abnormality of the ovary, Ambiguous genitalia, Ovotestis, Abnormality of the scro... ORPHA:199310
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Elevated circulating growth hormone concentration ORPHA:85327
Familial Hyperprolactinemia
Female hypogonadism, Hemorrhagic ovarian cyst ORPHA:397685
Premature Ovarian Failure 1
Increased circulating gonadotropin level, Premature ovarian insufficiency OMIM:311360
46,Xy Sex Reversal 10
Ambiguous genitalia, Gonadoblastoma, Sex reversal, Dysgerminoma, Decreased testicular size, Micro... OMIM:616425
Premature Ovarian Failure 19
Premature ovarian insufficiency OMIM:619245
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Precocious puberty, Polycystic ovaries ORPHA:2229
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Decreased testicular size, Micropenis OMIM:146110
Rudiger Syndrome
Ovarian cyst, Bicornuate uterus, Micropenis OMIM:268650
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Macroorchidism OMIM:300055
Ring Chromosome Y Syndrome
Cryptorchidism, Ambiguous genitalia, Male hypogonadism, Azoospermia, Ambiguous genitalia, male, U... ORPHA:261529
Xq27.3Q28 Duplication Syndrome
Hypogonadism, Cryptorchidism, Decreased testicular size, Premature ovarian insufficiency ORPHA:261483
Premature Ovarian Failure 16
Elevated circulating follicle stimulating hormone level, Premature ovarian insufficiency, Reduced... OMIM:618723
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Urogenital sinus anomaly, Vanishing testis, Abnor... OMIM:273250
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Hyperplasia of the Leydig cells, Azoospermia, Bilateral breast hypoplasia, Oli... ORPHA:52901
Premature Ovarian Failure 9
Increased circulating gonadotropin level, Premature ovarian insufficiency OMIM:615724
Premature Ovarian Failure 2B
Premature ovarian insufficiency OMIM:300604
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Polycystic ovaries ORPHA:284180
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Cryptorchidism, Azoospermia, Hypoplasia of the uterus, Hypogonadotropic hypogonadism, Decreased t... OMIM:614837
Microphthalmia, Isolated 4
Absent testis OMIM:613094
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Cryptorchidism, Elevated circulating luteinizing hormone level, Ambiguous genitalia, male, Hyperg... ORPHA:90796
Leydig Cell Hypoplasia
Cryptorchidism, Hyoplasia of the Leydig cells, Male hypogonadism, Increased circulating gonadotro... ORPHA:755
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism ORPHA:3077
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Clark-Baraitser syndrome
Macroorchidism OMIM:300602
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the testes, Hypoplasia of penis ORPHA:3055
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Hypoplasia of the uterus, Enlarged polycystic ovaries, ... ORPHA:785
Fragile X Syndrome
Macroorchidism ORPHA:908
Pseudovaginal Perineoscrotal Hypospadias
Cryptorchidism, Ambiguous genitalia, male, Bifid scrotum, Perineal hypospadias, Micropenis OMIM:264600
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Cryptorchidism, Ambiguous genitalia, Urogenital sinus anomaly, Ambiguous genitalia, male, Bifid s... ORPHA:753
47,Xyy Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Azoospermia, Oligospermia, Macroorchidi... ORPHA:8
Ovarian Hyperstimulation Syndrome
Ovarian cyst, Hemorrhagic ovarian cyst, Increased circulating gonadotropin level, Enlarged polycy... ORPHA:64739
Aromatase Deficiency
Hypergonadotropic hypogonadism, Ovarian cyst, Female pseudohermaphroditism OMIM:613546
Tetrasomy X
Premature ovarian insufficiency ORPHA:9
46,Xy Sex Reversal 3
Ambiguous genitalia, Elevated circulating luteinizing hormone level, Exaggerated rugosity of the ... OMIM:612965
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Premature ovarian insufficiency ORPHA:2278
Atkin-Flaitz Syndrome
Macroorchidism OMIM:300431
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Increased circulating gonadotropin level, Azoospermia, Non-obstructive azoospermia, Obstructive a... ORPHA:399805
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Gonadal dysgenesis, Cli... OMIM:612964
Premature Ovarian Failure 8
Premature ovarian insufficiency, Increased circulating gonadotropin level, Ovarian neoplasm OMIM:615723
Lujan-Fryns Syndrome
Macroorchidism ORPHA:776
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Hypogonadism, Cryptorchidism, Decreased testicular size, Micropenis OMIM:616030
Aromatase Deficiency
Cryptorchidism, Hypergonadotropic hypogonadism, Macroorchidism, postpubertal, Ambiguous genitalia... ORPHA:91
Hypogonadotropic Hypogonadism 23 Without Anosmia
Ovarian cyst, Abnormality of the Leydig cells, Micropenis, Hypogonadotropic hypogonadism, Testicu... OMIM:228300
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Polycystic ovaries ORPHA:1643
Testicular Agenesis
Urethrovaginal fistula, Ambiguous genitalia, Increased circulating gonadotropin level, Absent tes... ORPHA:325124
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Azoospermia, Dec... OMIM:612885
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormality of peripheral nerve conduction, Increased circulating gonadotropin level, Male hypogo... ORPHA:168563
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Decreased testicular size OMIM:614858
Hereditary Breast And Ovarian Cancer Syndrome
Abnormal fallopian tube morphology, Neoplasm of the pancreas, Prostate cancer, Ovarian neoplasm ORPHA:145
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Cryptorchidism, Abnormality of the uterus, Abnormal vagina morphology, Gonadoblastoma, Streak ova... OMIM:194072
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
46,Xy Sex Reversal 7
Gonadoblastoma, Sex reversal, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Streak ... OMIM:233420
Perrault Syndrome 6
Premature ovarian insufficiency, Hypoplasia of the uterus, Streak ovary OMIM:617565
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:754
Polyembryoma
Isosexual precocious puberty, Macroorchidism ORPHA:180229
Ovarian Fibroma
Ovarian fibroma, Abnormality of the ovary, Gonadal calcification ORPHA:314473
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Cryptorchidism, Hypoplasia of the uterus, Hypogonadotropic hypogonadism, Decreased testicular siz... OMIM:614841
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Decreased testicular size, Small pituitary gland, Micropenis OMIM:614880
Lipodystrophy, Partial, Acquired, Susceptibility To
Polycystic ovaries OMIM:608709
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Polycystic ovaries ORPHA:79084
Non-Functioning Pituitary Adenoma
Panhypopituitarism, Abnormality of the pituitary gland, Male hypogonadism, Increased circulating ... ORPHA:91349
Peutz-Jeghers Syndrome
Enlarged polycystic ovaries, Cervix cancer, Pancreatic adenocarcinoma ORPHA:2869
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Cryptorchidism, Decreased testicular size, Polycystic ovaries ORPHA:3085
Rabson-Mendenhall Syndrome
Long penis, Enlarged ovaries, Increased pineal volume, Clitoral hypertrophy, Precocious puberty ORPHA:769
Isolated Splenogonadal Fusion
Hydrocele testis, Abnormality of the scrotum, Abnormal penis morphology, Bilateral cryptorchidism... ORPHA:457083
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Macroorchidism, Abnormality of female external genitalia, Female external ... ORPHA:90790
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Increased circulating gonadotropin level, Non-obstructive azoospermia, Decreased... ORPHA:399808
Premature Ovarian Failure 18
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Hypoplasia of the ovary... OMIM:619203
Hypergonadotropic Hypogonadism And Partial Alopecia
Hypergonadotropic hypogonadism, Streak ovary OMIM:241090
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Cryptorchidism, Decreased testicular size, Azoospermia, Micropenis OMIM:614897
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries ORPHA:2228
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Streak ovary, Elevated ... OMIM:612310
Mental Retardation, X-Linked 92
Decreased testicular size OMIM:300851
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter, Premature ovarian insufficiency OMIM:617175
46,Xy Sex Reversal 8
Sex reversal, Cryptorchidism, Ambiguous genitalia, Male pseudohermaphroditism OMIM:614279
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism, Cardiomegaly ORPHA:324410
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Abnormal salivary gland morphology, Enlarged polycystic ovaries, Polycystic ova... ORPHA:2298
Premature Ovarian Failure 17
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:619146
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Abnormality of the urethra, Polycystic ovaries ORPHA:2795
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis
Partial vaginal septum, Uterus didelphys, Hematocolpos OMIM:192050
Spermatogenic Failure 28
Decreased testicular size, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:618086
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Elevated circulating luteinizing hormone level,... ORPHA:99429
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Aplasia of the uterus, Anteriorly displaced urethral meatus OMIM:266810
Ovarian Fibrothecoma
Ovarian fibroma, Abnormality of the ovary, Abnormality of the endometrium, Gonadal calcification ORPHA:314478
Partial Androgen Insensitivity Syndrome
Ambiguous genitalia, Elevated circulating luteinizing hormone level, Blind vagina, Aplasia of the... ORPHA:90797
Mccune-Albright Syndrome
Ovarian cyst, Hyperplasia of the Leydig cells, Elevated circulating growth hormone concentration,... ORPHA:562
Opitz Gbbb Syndrome
Cryptorchidism, Bifid scrotum, Enlarged ovaries, Bicornuate uterus, Hypospadias, Shawl scrotum ORPHA:2745
Carney Complex
Pituitary growth hormone cell adenoma, Ovarian cyst, Elevated circulating growth hormone concentr... ORPHA:1359
Hypogonadotropic Hypogonadism 25 With Anosmia
Cryptorchidism, Micropenis, Hypoplasia of the ovary OMIM:618841
Persistent Müllerian Duct Syndrome
Cryptorchidism, Male pseudohermaphroditism ORPHA:2856
Leprechaunism
Long penis, Enlarged kidney, Enlarged ovaries, Hepatomegaly, Overgrowth of external genitalia, La... ORPHA:508
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Premature ovarian insufficiency, Decreased nerve conduction velocity ORPHA:2928
Distal Monosomy 10P
Cryptorchidism, Hypoplasia of penis, Polycystic ovaries ORPHA:1580
Plin1-Related Familial Partial Lipodystrophy
Polycystic ovaries ORPHA:280356
Mullerian Aplasia And Hyperandrogenism
Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian tube, Aplasia of the vagina OMIM:158330
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614129
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Bangstad Syndrome
Abnormality of the parathyroid gland, Abnormal testis morphology, Polycystic ovaries ORPHA:1227
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Ambiguous genitalia, Cryptorchidism, Elevated circulating luteinizing hormone level, Oligospermia... ORPHA:95699
46,Xx Sex Reversal 2
Ovotestis, Azoospermia, Bifid scrotum, Sex reversal, Scrotal hypoplasia, Hypoplasia of the uterus... OMIM:278850
Trisomy 20P
Cryptorchidism, Macroorchidism, Abnormal autonomic nervous system physiology, Hypospadias ORPHA:261318
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome
Premature ovarian insufficiency ORPHA:126
Satoyoshi Syndrome
Abnormality of the ovary, Abnormality of the uterus, Hypoplasia of the uterus, Hypoplasia of the ... ORPHA:3130
Perrault Syndrome 2
Streak ovary OMIM:614926
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina OMIM:277000
Preeclampsia
Polycystic ovaries ORPHA:275555
49,Xxxyy Syndrome
Ambiguous genitalia, Increased circulating gonadotropin level, Male hypogonadism, Abnormality of ... ORPHA:261534
Isolated Thyroid-Stimulating Hormone Deficiency
Goiter, Macroorchidism, Pituitary hypothyroidism, Increased circulating prolactin concentration, ... ORPHA:90674
Ataxia-Telangiectasia
Abnormal testis morphology, Polycystic ovaries ORPHA:100
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Hypoplasia of the uterus, Abnormal vagina morphology ORPHA:247768
Alpha-Heavy Chain Disease
Hepatomegaly, Premature ovarian insufficiency, Splenomegaly ORPHA:100025
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Ovarian cyst, Male hypogonadism, Elevated circulating luteinizing hormone level, Ambiguous genita... ORPHA:90793
46,Xy Partial Gonadal Dysgenesis
Cryptorchidism, Abnormal internal genitalia, Female external genitalia in individual with 46,XY k... ORPHA:251510
Androgen Insensitivity, Partial
Cryptorchidism, Azoospermia, Bifid scrotum, Absent vas deferens, Perineal hypospadias, Male pseud... OMIM:312300
Cowden Syndrome
Abnormality of the uterus, Goiter, Abnormal penis morphology, Endometrial carcinoma, Adenoma seba... ORPHA:201
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Right ventricular hypertrophy, Left ventricular hypertrophy, Decreased ... ORPHA:335
Congenital Factor Vii Deficiency
Ovarian cyst ORPHA:327
Von Hippel-Lindau Syndrome
Pheochromocytoma, Pancreatic cysts, Epididymal cyst, Papillary cystadenoma of the epididymis, Neo... OMIM:193300
Estrogen Resistance
Hypoplasia of the uterus OMIM:615363
Lymphatic Malformation 10
Hydrocele testis OMIM:619369
Lumbar Syndrome
Cryptorchidism, Bifid uterus, Ambiguous genitalia, Bifid scrotum, Hypoplastic labia majora, Hypos... ORPHA:83628
Frasier Syndrome
Increased circulating gonadotropin level, Ambiguous genitalia, male, Gonadoblastoma, Hypergonadot... ORPHA:347
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Hypergonadotropic hypogonadism, Polycystic ovaries OMIM:268020
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Polycystic ovaries ORPHA:79085
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Perrault Syndrome 4
Increased circulating gonadotropin level, Hypoplasia of the uterus, Bicornuate uterus, Hypoplasia... OMIM:615300
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Goiter, Abnormal testis morphology, Abnormal penis morphology, Polycystic ovaries, Testicular neo... ORPHA:457059
Hymen, Imperforate
Hydrocolpos, Imperforate hymen, Hematocolpos OMIM:237100
45,X/46,Xy Mixed Gonadal Dysgenesis
Cryptorchidism, Chordee, Abnormal internal genitalia, Epispadias, Micropenis, Ambiguous genitalia... ORPHA:1772
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Ambiguous genitalia, Long penis, Premature pubarche, Ambiguous genitalia, female, Polycystic ovar... ORPHA:90795
Renal Cysts And Diabetes Syndrome
Hypoplasia of the uterus, Epididymal cyst, Bicornuate uterus, Pancreatic hypoplasia, Hypospadias,... OMIM:137920
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Gonadal dysgenesis, Polycystic ovaries ORPHA:1770
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Bicornuate uterus, Hypoplasia of the uterus, Azoospermia OMIM:601076
Donohue Syndrome
Ovarian cyst, Clitoral hypertrophy, Precocious puberty, Long penis OMIM:246200
Normosmic Congenital Hypogonadotropic Hypogonadism
Cryptorchidism, Male hypogonadism, Azoospermia, Breast hypoplasia, Non-obstructive azoospermia, H... ORPHA:432
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Polycystic ovaries ORPHA:435651
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Abnormal labia majora morphology, Polycystic ovaries ORPHA:435660
Obesity Due To Congenital Leptin Deficiency
Orthostatic hypotension due to autonomic dysfunction, Hypergonadotropic hypogonadism, Pituitary h... ORPHA:66628
Congenital Generalized Lipodystrophy
Polycystic ovaries, Hepatomegaly, Precocious puberty in females, Overgrowth of external genitalia... ORPHA:528
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Aganglionic megacolon, Vaginal atresia, Left ventricular hypertrophy, D... OMIM:209900
46,Xx Gonadal Dysgenesis
Increased circulating gonadotropin level, Streak ovary, Aplasia/hypoplasia of the uterus, Gonadal... ORPHA:243
Cowden Syndrome 6
Hydrocele testis, Goiter, Ovarian cyst, Varicocele OMIM:615109
Lipodystrophy, Familial Partial, Type 3
Polycystic ovaries OMIM:604367
49,Xyyyy Syndrome
Male hypogonadism, Increased circulating gonadotropin level, Azoospermia, Abnormality of the test... ORPHA:99330
Townes-Brocks Syndrome 2
Hypospadias, Bifid uterus, Rectovaginal fistula OMIM:617466
Hypoparathyroidism, Sensorineural Deafness, And Renal Disease
Septate vagina, Pseudopapilledema, Uterus didelphys, Hypoparathyroidism, Aplasia of the uterus, A... OMIM:146255
Obesity Due To Leptin Receptor Gene Deficiency
Orthostatic hypotension due to autonomic dysfunction, Hypergonadotropic hypogonadism, Pituitary h... ORPHA:179494
Proteus Syndrome
Ovarian neoplasm, Long penis, Macroorchidism, Splenomegaly, Testicular neoplasm, Thymus hyperplas... ORPHA:744
Hypoplasminogenemia
Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis ORPHA:722
Cowden Syndrome 5
Hydrocele testis, Goiter, Ovarian cyst OMIM:615108
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Long penis, Clitoral hypertrophy, Precocious puberty in males, Hypoplasia of the uterus, Congenit... OMIM:202010
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Ovarian cyst, Endometrial carcinoma, Pancreatic adenocarcinoma ORPHA:454840
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Floating-Harbor Syndrome
Cryptorchidism, Epididymal cyst, Congenital posterior urethral valve, Hypospadias, Varicocele OMIM:136140
Cowden Syndrome 1
Hydrocele testis, Ovarian cyst, Goiter, Ovarian carcinoma, Varicocele OMIM:158350
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Aplasia of the uterus ORPHA:3109
Hemihyperplasia-Multiple Lipomatosis Syndrome
Hydrocele testis, Ovarian serous cystadenoma, Enlarged kidney ORPHA:276280
Von Hippel-Lindau Disease
Pancreatic cysts, Epididymal cyst, Adrenal pheochromocytoma, Papilledema, Papillary cystadenoma o... ORPHA:892
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Cryptorchidism, Elevated circulating luteinizing hormone level, Midshaft hypospadias, Ambiguous g... ORPHA:168558
Peutz-Jeghers Syndrome
Precocious puberty with Sertoli cell tumor, Neoplasm of the pancreas, Ovarian cyst, Uterine neoplasm OMIM:175200
Popliteal Pterygium Syndrome
Cryptorchidism, Bifid scrotum, Scrotal hypoplasia, Hypoplasia of the uterus, Hypoplastic labia ma... OMIM:119500
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Cryptorchidism, Elevated circulating luteinizing hormone level, Midshaft hypospadias, Ambiguous g... ORPHA:289548
Cystic Echinococcosis
Hepatomegaly, Ovarian cyst, Abnormality of the testis size ORPHA:400
Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome
Urethral atresia, Cryptorchidism, Absent external genitalia, Persistent cloaca, Aplasia of the ut... ORPHA:94095
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Splenomegaly, Polycystic ovaries ORPHA:2348
Seckel Syndrome 7
Hypoplasia of the uterus OMIM:614851
Amed Syndrome, Digenic
Hypoplasia of the uterus OMIM:619151
Luscan-Lumish Syndrome
Polycystic ovaries OMIM:616831
Woodhouse-Sakati Syndrome
Hypergonadotropic hypogonadism, Hypoplasia of the fallopian tube, Elevated circulating thyroid-st... OMIM:241080
Satoyoshi Syndrome
Hypoplasia of the uterus OMIM:600705
Primary Lipodystrophy
Splenomegaly, Polycystic ovaries ORPHA:90970
Pontocerebellar Hypoplasia Type 7
Cryptorchidism, Ambiguous genitalia, Microphallus, Absent penis, Abnormal scrotal rugation, Clito... ORPHA:284339
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Splenomegaly, Polycystic ovaries ORPHA:79083
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Papilledema, Nodular goiter, Premature thelarche, Polycystic ovaries ORPHA:371428
Cardiac-Urogenital Syndrome
Cryptorchidism, Ambiguous genitalia, Bifid scrotum, Micropenis, Aplasia of the uterus OMIM:618280
Proteus-Like Syndrome
Thymus hyperplasia, Abnormality of the parathyroid gland, Splenomegaly, Polycystic ovaries ORPHA:2969
Aspartylglucosaminuria
Hepatomegaly, Macroorchidism, Splenomegaly ORPHA:93
Oeis Complex
Cryptorchidism, Bifid uterus, Ambiguous genitalia, male, Ambiguous genitalia, female, Rectovagina... OMIM:258040
Aspartylglucosaminuria
Hepatomegaly, Macroorchidism OMIM:208400
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Septate vagina, Vaginal atresia, Parathyroid hypoplasia, Uterus didelphys, Hypoparathyroidism, Ap... ORPHA:2237
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Aplasia of the ovary, Breast hypoplasia... ORPHA:2232
Woodhouse-Sakati Syndrome
Micropenis, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Streak ovary, Decreased t... ORPHA:3464
Chromosome 17Q12 Deletion Syndrome
Cryptorchidism, Ovarian cyst, Unicornuate uterus, Urethral stenosis, Aplasia of the uterus, Aplas... OMIM:614527
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Urethral atresia, Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia OMIM:271520
Infantile Systemic Hyalinosis
Polycystic ovaries ORPHA:2176
Acquired Generalized Lipodystrophy
Hepatomegaly, Polycystic ovaries ORPHA:79086
Floating-Harbor Syndrome
Cryptorchidism, Epididymal cyst, Congenital posterior urethral valve, Hypospadias, Precocious pub... ORPHA:2044
Acromesomelic Dysplasia, Demirhan Type
Hypergonadotropic hypogonadism, Hypoplasia of the uterus OMIM:609441
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Ambiguous genitalia, Urogenital sinus anomaly, Long penis, Premature pubarche, Decreased testicul... ORPHA:90794
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Splenomegaly, Polycystic ovaries ORPHA:370
Fibrous Dysplasia Of Bone
Ovarian cyst, Elevated circulating growth hormone concentration, Precocious puberty in females, H... ORPHA:249
Blepharophimosis, Ptosis, And Epicanthus Inversus
Increased circulating gonadotropin level, Hypoplasia of the uterus, Premature ovarian insufficiency OMIM:110100
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Elevated circulating luteinizing hormone level, Lacrimal gland hypoplasia, Hypergonadotropic hypo... ORPHA:572333
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Labial pseudohypertrophy, Polycystic ovaries OMIM:151660
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Splenomegaly, Polycystic ovaries ORPHA:264580
Phocomelia, Schinzel Type
Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis ORPHA:2879
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Bifid uterus, Supernumerary nipple, Abnormal reproductive system morphology ORPHA:1521
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Splenomegaly, Polycystic ovaries ORPHA:280365
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus ORPHA:3320
Lipodystrophy, Congenital Generalized, Type 1
Clitoral hypertrophy, Polycystic ovaries, Hepatomegaly, Splenomegaly, Labial hypertrophy OMIM:608594
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Cryptorchidism, Ambiguous genitalia, Bifid scrotum, Chordee, Scrotal hypoplasia, Polycystic ovari... OMIM:201750
Linear Skin Defects With Multiple Congenital Anomalies 1
Ovotestis, Chordee, Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Micropenis OMIM:309801
Lipodystrophy, Congenital Generalized, Type 2
Clitoral hypertrophy, Polycystic ovaries, Hepatomegaly, Splenomegaly, Labial hypertrophy OMIM:269700
Orofaciodigital Syndrome I
Pancreatic cysts, Ovarian cyst OMIM:311200
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Optic nerve hypoplasia, Aplasia of the uterus, Aplasia of the vagina ORPHA:457284
Exstrophy-Epispadias Complex
Cryptorchidism, Bifid uterus, Bifid scrotum, Penoscrotal transposition, Cystocele, Absent penis, ... ORPHA:322
Limb-Mammary Syndrome
Absent nipple, Bilateral breast hypoplasia, Aplasia of the ovary, Breast aplasia, Hypoplastic nip... ORPHA:69085
Histiocytoid Cardiomyopathy
Hepatomegaly, Optic atrophy, Cardiomegaly, Polycystic ovaries ORPHA:137675
Townes-Brocks Syndrome 1
Cryptorchidism, Bifid uterus, Bifid scrotum, Urethral valve, Rectovaginal fistula, Hypospadias, R... OMIM:107480
Thrombocytopenia-Absent Radius Syndrome
Pancreatic cysts, Hepatosplenomegaly, Aplasia of the uterus OMIM:274000
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Enlarged kidney, Polycystic ovaries ORPHA:79259
Hydrolethalus Syndrome 1
Hypospadias, Bifid uterus, Abnormal vagina morphology, Adrenal gland dysgenesis OMIM:236680
Ehlers-Danlos Syndrome, Vascular Type
Cryptorchidism, Uterine rupture, Cystocele, Cervical insufficiency, Uterine prolapse OMIM:130050
Neu-Laxova Syndrome 1
Cryptorchidism, Bifid uterus OMIM:256520
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Cryptorchidism, Scrotal hypoplasia, Hypoplastic nipples, Hypospadias, Anteriorly displaced genita... OMIM:276820
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Turner Syndrome
Gonadoblastoma, Abnormality of the ovary, Increased circulating gonadotropin level, Premature ova... ORPHA:881
Mosaic Monosomy X
Gonadoblastoma, Abnormality of the ovary, Increased circulating gonadotropin level, Premature ova... ORPHA:99228
Monosomy X
Gonadoblastoma, Abnormality of the ovary, Increased circulating gonadotropin level, Premature ova... ORPHA:99226
Turner Syndrome Due To Structural X Chromosome Anomalies
Gonadoblastoma, Abnormality of the ovary, Increased circulating gonadotropin level, Premature ova... ORPHA:99413
Coffin-Siris Syndrome 1
Hypospadias, Cryptorchidism, Aplasia of the uterus, Clitoral hypertrophy OMIM:135900
Rubinstein-Taybi Syndrome 1
Cryptorchidism, Bifid uterus, Shawl scrotum, Aganglionic megacolon, Papillary cystadenoma of the ... OMIM:180849
Wolf-Hirschhorn Syndrome
Aplasia of the uterus, Hypospadias, Cryptorchidism, Precocious puberty OMIM:194190
Norrie Disease
Cryptorchidism, Optic atrophy, Uterine rupture ORPHA:649
Okamoto Syndrome
Bifid uterus, Splenomegaly ORPHA:2729
Williams Syndrome
Cryptorchidism, Cholelithiasis, Polycystic ovaries, Urethral stenosis, Cardiomegaly, Hypoplasia o... ORPHA:904
Pallister-Killian Syndrome
Cryptorchidism, Small scrotum, Hypoplastic labia majora, Aplasia of the upper vagina, Hypospadias... OMIM:601803
Vascular Ehlers-Danlos Syndrome
Cryptorchidism, Uterine rupture, Cystocele, Hypospadias, Uterine prolapse ORPHA:286
Alström Syndrome
Hyoplasia of the Leydig cells, Oligospermia, Hypergonadotropic hypogonadism, Testicular fibrosis,... ORPHA:64

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 Lamtor1

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 Lamtor1.

No publications found that use IMPC mice or data for Lamtor1.

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MGI Allele Allele Type Produced
Lamtor1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Lamtor1tm1b(KOMP)Wtsi Reporter-tagged deletion allele (post-Cre) Mice, Tissue

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