Gene Summary

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

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
abnormal testis morphology Lamtor1tm1b(KOMP)Wtsi HET Early adult 0.00
embryonic lethality prior to organogenesis Lamtor1tm1b(KOMP)Wtsi HOM   E9.5 0.00
small superior vagus ganglion Lamtor1tm1b(KOMP)Wtsi HET Early adult 0.00
enlarged testis Lamtor1tm1b(KOMP)Wtsi HET Early adult 0.00
abnormal ovary morphology Lamtor1tm1b(KOMP)Wtsi HET Early adult 0.00
preweaning lethality, complete penetrance Lamtor1tm1b(KOMP)Wtsi HOM   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
abnormal epididymis morphology Lamtor1tm1b(KOMP)Wtsi HET Early adult 0.00
hydrometra Lamtor1tm1b(KOMP)Wtsi HET Early adult 0.00
enlarged epididymis Lamtor1tm1b(KOMP)Wtsi HET Early adult 0.00

Download data as:  TSV  XLS

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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 100% (2 of 2)
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 100% (2 of 2)
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 100% (2 of 2)
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 100% (2 of 2)
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 0.37% (2 of 547)
aorta 0.0%
blood 0.0%
bone marrow 0.0%
brain 0.72% (4 of 556)
brainstem 0.36% (2 of 557)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 553)
cecum 5.67% (20 of 353)
cerebellum 0.55% (3 of 546)
cerebral cortex 0.36% (2 of 555)
chest bone Unavailable
colon 16.15% (21 of 130)
diaphragm 0.0%
duodenum 3.2% (4 of 125)
epididymis 14.49% (20 of 138)
esophagus 1.57% (6 of 383)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.78% (1 of 129)
heart 0.36% (2 of 559)
hindlimb 0.0%
hippocampus 0.55% (3 of 544)
hypothalamus 0.36% (2 of 550)
ileum 14.84% (19 of 128)
jejunum 9.45% (12 of 127)
kidney 4.83% (27 of 559)
large intestine 5.25% (29 of 552)
liver 0.0%
lower urinary tract 0.18% (1 of 552)
lung 0.36% (2 of 550)
lymph node 0.18% (1 of 557)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.33% (1 of 306)
midbrain 0.0%
olfactory lobe 0.37% (2 of 545)
ovary 0.18% (1 of 560)
oviduct 0.0%
pancreas 0.91% (5 of 550)
parathyroid gland 0.19% (1 of 536)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.18% (1 of 548)
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 1.97% (11 of 558)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.18% (1 of 557)
small intestine 5.4% (30 of 556)
spinal cord 0.54% (3 of 557)
spleen 0.55% (3 of 543)
stomach 3.78% (21 of 556)
stomach pyloric region 0.0%
striatum 0.55% (3 of 546)
sublingual gland 0.0%
submandibular gland 1.53% (2 of 131)
testis 1.09% (6 of 550)
thymus 0.18% (1 of 551)
thyroid gland 3.1% (17 of 549)
tongue 4.03% (5 of 124)
trachea 0.54% (3 of 555)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.37% (2 of 541)
vagina 0.0%
vas deferens 4.1% (15 of 366)
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 1.56% (1 of 64)
brain 1.18% (6 of 510)
central nervous system ganglion 1.37% (1 of 73)
ear 0.2% (1 of 510)
embryo 0.39% (2 of 511)
eye 0.2% (1 of 510)
footplate 0.2% (1 of 510)
forebrain 0.2% (1 of 510)
forelimb 0.2% (1 of 510)
gut 1.69% (1 of 59)
handplate 0.2% (1 of 510)
head 0.98% (5 of 510)
heart 0.2% (1 of 510)
hindbrain 1.18% (6 of 510)
hindlimb 0.2% (1 of 510)
liver 0.2% (1 of 505)
lung 0.2% (1 of 505)
mandibular process 0.2% (1 of 510)
maxillary process 0.2% (1 of 510)
midbrain 0.2% (1 of 510)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 505)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 510)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 510)
tail somite group 0.2% (1 of 510)
trachea 1.69% (1 of 59)
urinary system 1.69% (1 of 59)

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

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 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
Testicular torsion, Torsion of appendix of testis OMIM:187400
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Intellectual Developmental Disorder, 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
Polycystic ovaries, Ambiguous genitalia, Male hypogonadism, Decreased testicular size ORPHA:393
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome
Decreased testicular size ORPHA:436144
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, Long penis, Macroorchidism, Oligospermia ORPHA:3000
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries OMIM:184700
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis, Hypogonadotropic hypogonadism ORPHA:242
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... ORPHA:983
Partington Syndrome
Macroorchidism ORPHA:94083
Hepatic Adenomas, Familial
Polycystic ovaries OMIM:142330
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Testicular Anomalies With Or Without Congenital Heart Disease
Micropenis, Ambiguous genitalia, Testicular dysgenesis, Cryptorchidism, Perineal hypospadias, Mic... OMIM:615542
Uterine Anomalies
Abnormality of the uterus, Bicornuate uterus OMIM:192000
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged polycystic ovarie... ORPHA:90301
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism OMIM:300238
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Decreased testicular size, Hypogonadism ORPHA:1875
Partial Chromosome Y Deletion
Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Abnormal spermatogenesis, C... ORPHA:1646
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Micropenis, Hypogonadotropic hypogonadism, Decreased testicular size, Cryptorchidism, Microphallus OMIM:614840
Gonadoblastoma
Ovarian gonadoblastoma, Gonadal dysgenesis with female appearance, male, Female external genitali... ORPHA:206484
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... ORPHA:2138
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Megalencephaly
Macroorchidism, Long penis ORPHA:2477
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619528
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Spermatogenic Failure 25
Azoospermia, Cryptozoospermia, Decreased testicular size OMIM:617960
Isochromosomy Yp
Ambiguous genitalia, Azoospermia, Decreased testicular size ORPHA:98797
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Isochromosomy Yq
Ambiguous genitalia, Varicocele, Decreased testicular size, Azoospermia, Gonadal tissue inappropr... ORPHA:98798
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Azoospermia, Decreased testicular size OMIM:619145
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:619831
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Hypospadias, Abnormality of the uterus, Abn... ORPHA:1916
Precocious Puberty, Male-Limited
Precocious puberty in males, Decreased testicular size OMIM:176410
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
Spermatogenic Failure 63
Oligospermia, Decreased testicular size OMIM:619689
Tetragametic Chimerism
Gonadal dysgenesis with female appearance, male, Micropenis, Bifid scrotum, Perineal hypospadias,... ORPHA:199310
Functioning Gonadotropic Adenoma
Adrenocorticotropic hormone deficiency, Abnormal prolactin level, Decreased response to growth ho... ORPHA:91348
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Elevated circulating growth hormone concentration, Macroorchidism ORPHA:85327
Rudiger Syndrome
Ovarian cyst, Bicornuate uterus, Micropenis OMIM:268650
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, female, Ambiguous genitalia, male, Streak ovary, B... ORPHA:261529
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Polycystic ovaries, Precocious puberty ORPHA:2229
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Decreased testicular size, Micropenis OMIM:146110
46,Xy Sex Reversal 10
Sex reversal, Micropenis, Ambiguous genitalia, Dysgerminoma, Decreased testicular size, Gonadobla... OMIM:616425
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism OMIM:300624
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Gonadal dysgenesis with female appearance, male, Elevated circulating l... OMIM:273250
Xp22.13P22.2 Duplication Syndrome
Polycystic ovaries, Macroorchidism ORPHA:284180
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Dec... OMIM:614837
Familial Hyperprolactinemia
Female hypogonadism, Hemorrhagic ovarian cyst ORPHA:397685
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism ORPHA:3077
Microphthalmia, Isolated 4
Absent testis OMIM:613094
Clark-Baraitser syndrome
Macroorchidism OMIM:300602
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Cryptorchidism, Hypoplasia of penis, Aplasia/Hypoplasia of the testes ORPHA:3055
Fragile X Syndrome
Macroorchidism ORPHA:908
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Ambiguous geni... ORPHA:90796
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Decreased testicular size, Abnormal spermatogenesis, Azoospermia, In... ORPHA:399805
47,Xyy Syndrome
Cryptorchidism, Micropenis, Hypospadias, Oligospermia, Varicocele, Azoospermia, Increased circula... ORPHA:8
Atkin-Flaitz Syndrome
Macroorchidism OMIM:300431
46,Xy Sex Reversal 3
Sex reversal, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Gonadal d... OMIM:612965
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Urogenital sinus anomaly, Hypoplasia of penis, Ambiguous genitalia, male, Bifid scrotum, Ambiguou... ORPHA:753
Pseudovaginal Perineoscrotal Hypospadias
Ambiguous genitalia, male, Micropenis, Bifid scrotum, Cryptorchidism, Perineal hypospadias OMIM:264600
Leydig Cell Hypoplasia
Cryptorchidism, Abnormal external genitalia, Abnormal vas deferens morphology, Hypergonadotropic ... ORPHA:755
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Female pseudohermaphroditism OMIM:613546
Lujan-Fryns Syndrome
Macroorchidism ORPHA:776
Ovarian Hyperstimulation Syndrome
Ovarian cyst, Increased circulating gonadotropin level, Enlarged polycystic ovaries, Hemorrhagic ... ORPHA:64739
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Cryptorchidism, Hypogonadism, Decreased testicular size, Micropenis OMIM:616030
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Bilateral breast hypoplasia, Hypogonadotropic hypogonadism, Oligospermia, Gon... ORPHA:52901
Estrogen Resistance Syndrome
Hypoplasia of the uterus, Increased circulating gonadotropin level, Enlarged polycystic ovaries, ... ORPHA:785
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal vagina morphology, Hypoplasia of the uterus, Gonadal dysgenesis with female appearance, ... ORPHA:168563
Testicular Agenesis
Urogenital sinus anomaly, Hypoplasia of the uterus, Absent testis, Absent external genitalia, Abn... ORPHA:325124
Xp22.3 Microdeletion Syndrome
Polycystic ovaries, Hypogonadotropic hypogonadism ORPHA:1643
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Aromatase Deficiency
Ambiguous genitalia, female, Hypergonadotropic hypogonadism, Macroorchidism, postpubertal, Crypto... ORPHA:91
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Ovarian Fibroma
Ovarian fibroma, Gonadal calcification, Abnormality of the ovary ORPHA:314473
Hereditary Breast And Ovarian Cancer Syndrome
Neoplasm of the pancreas, Abnormal fallopian tube morphology, Ovarian neoplasm, Prostate cancer ORPHA:145
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Decreased testicular size OMIM:614858
Polyembryoma
Isosexual precocious puberty, Macroorchidism ORPHA:180229
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the uterus, Hypoplasia of the ovary, Micropenis, Hypogonadotropic hypogonadism, Dec... OMIM:614841
Androgen Insensitivity Syndrome
Ambiguous genitalia, male, Male pseudohermaphroditism, Aplasia/hypoplasia of the uterus, Testicul... ORPHA:754
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Abnormal vagina morphology, Streak ovary, Hypospadias, Abnormality of the uterus, Gonadoblastoma,... OMIM:194072
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Male hypogonadism, Macroorchidism OMIM:300055
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Decreased testicular size, Small pituitary gland, Micropenis OMIM:614880
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Lipodystrophy, Partial, Acquired, Susceptibility To
Polycystic ovaries OMIM:608709
Mental Retardation, X-Linked 92
Decreased testicular size OMIM:300851
Isolated Splenogonadal Fusion
Hydrocele testis, Abnormal penis morphology, Unilateral cryptorchidism, Testicular mass, Bilatera... ORPHA:457083
Hypergonadotropic Hypogonadism And Partial Alopecia
Hypergonadotropic hypogonadism, Streak ovary OMIM:241090
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Decreased testicula... ORPHA:399808
Peutz-Jeghers Syndrome
Pancreatic adenocarcinoma, Enlarged polycystic ovaries, Cervix cancer ORPHA:2869
Familial Partial Lipodystrophy, Köbberling Type
Polycystic ovaries, Hepatomegaly ORPHA:79084
Ovarian Dysgenesis 2
Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Streak ovary OMIM:300510
Rabson-Mendenhall Syndrome
Precocious puberty, Long penis, Enlarged ovaries, Clitoral hypertrophy, Increased pineal volume ORPHA:769
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Male pseudohermaphroditism, Endometrial carcinoma, Female external genitalia in individual with 4... ORPHA:90790
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Polycystic ovaries, Cryptorchidism, Decreased testicular size ORPHA:3085
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Micropenis, Ovarian cyst, Abnormality of the Leydig cells, Hypogonadot... OMIM:228300
Opitz Gbbb Syndrome
Bicornuate uterus, Bifid scrotum, Hypospadias, Enlarged ovaries, Shawl scrotum, Cryptorchidism ORPHA:2745
46,Xy Sex Reversal 7
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Hypoplasia of the... OMIM:233420
Premature Ovarian Failure 7
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Cli... OMIM:612964
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Cardiomegaly, Macroorchidism ORPHA:324410
Insulin-Resistance Syndrome Type B
Polycystic ovaries, Enlarged ovaries, Enlarged polycystic ovaries, Abnormal salivary gland morpho... ORPHA:2298
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries ORPHA:2228
Non-Functioning Pituitary Adenoma
Abnormality of the pituitary gland, Adrenocorticotropic hormone deficiency, Decreased response to... ORPHA:91349
Fowler Urethral Sphincter Dysfunction Syndrome
Polycystic ovaries, Abnormality of the urethra, Abnormality of the ovary ORPHA:2795
Premature Ovarian Failure 10
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Decreased testicular siz... OMIM:612885
Ovarian Fibrothecoma
Ovarian fibroma, Gonadal calcification, Abnormality of the ovary, Abnormal endometrium morphology ORPHA:314478
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis
Hematocolpos, Uterus didelphys, Partial vaginal septum OMIM:192050
46,Xy Sex Reversal 8
Sex reversal, Ambiguous genitalia, Male pseudohermaphroditism, Cryptorchidism OMIM:614279
Spermatogenic Failure 28
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... OMIM:618086
Complete Androgen Insensitivity Syndrome
Blind vagina, Elevated circulating luteinizing hormone level, Female external genitalia in indivi... ORPHA:99429
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus OMIM:266810
Partial Androgen Insensitivity Syndrome
Urogenital sinus anomaly, Blind vagina, Micropenis, Bifid scrotum, Hypospadias, Elevated circulat... ORPHA:90797
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Hypospadias, Macroorchidism OMIM:618874
Hypogonadotropic Hypogonadism 25 With Anosmia
Cryptorchidism, Hypoplasia of the ovary, Micropenis OMIM:618841
Mccune-Albright Syndrome
Precocious puberty, Elevated circulating growth hormone concentration, Ovarian cyst, Increased ci... ORPHA:562
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary OMIM:617565
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Leprechaunism
Hepatomegaly, Long penis, Enlarged kidney, Enlarged ovaries, Labial hypertrophy, Clitoral hypertr... ORPHA:508
Distal Monosomy 10P
Polycystic ovaries, Cryptorchidism, Hypoplasia of penis ORPHA:1580
Satoyoshi Syndrome
Hypoplasia of the uterus, Abnormality of the ovary, Abnormality of the uterus, Hypoplasia of the ... ORPHA:3130
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614129
Persistent Müllerian Duct Syndrome
Male pseudohermaphroditism, Cryptorchidism ORPHA:2856
Premature Ovarian Failure 18
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Elevated circulating fo... OMIM:619203
Bangstad Syndrome
Polycystic ovaries, Abnormality of the parathyroid gland, Abnormal testis morphology ORPHA:1227
Plin1-Related Familial Partial Lipodystrophy
Polycystic ovaries ORPHA:280356
Mullerian Aplasia And Hyperandrogenism
Aplasia of the uterus, Aplasia of the vagina, Aplasia/Hypoplasia of the fallopian tube OMIM:158330
Ovarian Dysgenesis 9
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Elevated circulating fo... OMIM:619665
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Elevated circulating fo... OMIM:612310
Perrault Syndrome 2
Streak ovary OMIM:614926
Trisomy 20P
Hypospadias, Cryptorchidism, Abnormal autonomic nervous system physiology, Macroorchidism ORPHA:261318
Premature Ovarian Failure 13
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level OMIM:617442
Premature Ovarian Failure 5
Hypoplasia of the ovary, Streak ovary OMIM:611548
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the uterus, Micropenis, Bifid scrotum, Hypoplasia of the vagina, Ovot... OMIM:278850
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Macroorchidism OMIM:309520
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating follicle stimulating hormone level, Abnormal external genitalia, Micropenis,... ORPHA:95699
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Hypoplasia of the uterus OMIM:277000
49,Xxxyy Syndrome
Abnormality of the testis size, External genital hypoplasia, Micropenis, Ambiguous genitalia, Dec... ORPHA:261534
Preeclampsia
Polycystic ovaries ORPHA:275555
Ataxia-Telangiectasia
Polycystic ovaries, Abnormal testis morphology ORPHA:100
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Increased circulating prolactin concentration, Thyro... ORPHA:90674
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Hypoplasia of the uterus, Abnormality of the ovary ORPHA:247768
Ovarian Dysgenesis 10
Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Elevated circulating fol... OMIM:619834
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Congenital Fibrinogen Deficiency
Right ventricular hypertrophy, Micropenis, Left ventricular hypertrophy, Hemorrhagic ovarian cyst... ORPHA:335
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary OMIM:609993
Premature Ovarian Failure 8
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:615723
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Increased circulating gonadotropin level, Precocious puberty in females, Blind vagina, Adrenocort... ORPHA:90793
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Hypergonadotropic hypogonadism, Ambiguous genitalia, Clitoral hypertrophy, Abnormal... ORPHA:251510
Lymphatic Malformation 10
Hydrocele testis OMIM:619369
Estrogen Resistance
Hypoplasia of the uterus OMIM:615363
Carney Complex
Neoplasm of the pancreas, Pituitary growth hormone cell adenoma, Sertoli cell neoplasm, Precociou... ORPHA:1359
Lumbar Syndrome
Bifid scrotum, Micropenis, Hypospadias, Bifid uterus, Ambiguous genitalia, Cryptorchidism, Hypopl... ORPHA:83628
Congenital Factor Vii Deficiency
Ovarian cyst ORPHA:327
Vaginal Atresia
Bicornuate uterus, Imperforate hymen, Uterus didelphys, Cervicitis, Transverse vaginal septum, Ab... ORPHA:65681
Frasier Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis with female appearance, male, Streak ovary, Hypergo... ORPHA:347
Cowden Syndrome
Abnormal penis morphology, Endometrial carcinoma, Adenoma sebaceum, Abnormality of the uterus, Go... ORPHA:201
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Hypergonadotropic hypogonadism, Polycystic ovaries OMIM:268020
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Aplasia of the ovary, Elevated circulating follic... OMIM:614324
Akt2-Related Familial Partial Lipodystrophy
Polycystic ovaries, Hepatomegaly ORPHA:79085
Hymen, Imperforate
Hematocolpos, Imperforate hymen, Hydrocolpos OMIM:237100
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Precocious puberty, Abnormal penis morphology, Testicular neoplasm, Polycystic ovaries, Goiter, A... ORPHA:457059
45,X/46,Xy Mixed Gonadal Dysgenesis
Ambiguous genitalia, female, Streak ovary, Ambiguous genitalia, Abnormal internal genitalia, Bila... ORPHA:1772
Hypoplasminogenemia
Abnormal fallopian tube morphology, Abnormality of the ovary, Cervicitis ORPHA:722
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Polycystic ovaries, Gonadal dysgenesis ORPHA:1770
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Ambiguous genitalia, female, Precocious puberty, Premature thelarche, Isosexual precocious pubert... ORPHA:90795
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus OMIM:601076
Obesity Due To Congenital Leptin Deficiency
Hypoplasia of the ovary, Hypergonadotropic hypogonadism, Orthostatic hypotension due to autonomic... ORPHA:66628
Donohue Syndrome
Ovarian cyst, Precocious puberty, Clitoral hypertrophy, Long penis OMIM:246200
Cidec-Related Familial Partial Lipodystrophy
Polycystic ovaries, Hepatomegaly ORPHA:435651
Lipe-Related Familial Partial Lipodystrophy
Polycystic ovaries, Abnormal labia majora morphology, Hepatomegaly ORPHA:435660
Cowden Syndrome 6
Hydrocele testis, Varicocele, Ovarian cyst, Goiter OMIM:615109
Congenital Generalized Lipodystrophy
Precocious puberty in females, Hepatomegaly, Clitoral hypertrophy, Polycystic ovaries, Overgrowth... ORPHA:528
Perrault Syndrome 4
Increased circulating gonadotropin level, Hypoplasia of the uterus, Bicornuate uterus, Hypoplasia... OMIM:615300
Cowden Syndrome 5
Hydrocele testis, Goiter, Ovarian cyst OMIM:615108
49,Xyyyy Syndrome
Abnormality of the testis size, External genital hypoplasia, Male hypogonadism, Decreased testicu... ORPHA:99330
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypoplasia of the uterus, Hypoplasia of the ovary, Cryptorchidism, Micropenis, Hypogonadotropic h... ORPHA:432
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Uterus didelphys, Septate vagina, Pseudopapilledema, Aplasia of the uterus, A... OMIM:146255
Townes-Brocks Syndrome 2
Hypospadias, Bifid uterus, Rectovaginal fistula OMIM:617466
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the uterus, Ambiguous genitalia, female, Hypoplasia of the vagina, Long penis, Clit... OMIM:202010
Lipodystrophy, Familial Partial, Type 3
Polycystic ovaries OMIM:604367
Cowden Syndrome 1
Hydrocele testis, Ovarian cyst, Varicocele, Goiter, Ovarian carcinoma OMIM:158350
Pigmented Nodular Adrenocortical Disease, Primary, 2
Ovarian cyst OMIM:610475
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Ovarian cyst, Pancreatic adenocarcinoma, Endometrial carcinoma ORPHA:454840
Proteus Syndrome
Ovarian neoplasm, Splenomegaly, Testicular neoplasm, Long penis, Thymus hyperplasia, Enlarged pol... ORPHA:744
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Urogenital sinus anomaly, Abnormal vagina morphology, Sex reversal, Adrenocorticotropic hormone e... ORPHA:168558
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Papillary cystadenoma of the epididymis, Pheochromocytoma, Epididymal c... OMIM:193300
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Hemihyperplasia-Multiple Lipomatosis Syndrome
Hydrocele testis, Ovarian serous cystadenoma, Enlarged kidney ORPHA:276280
Mayer-Rokitansky-Küster-Hauser Syndrome
Aplasia of the uterus, Hypoplasia of the vagina ORPHA:3109
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Urogenital sinus anomaly, Abnormal vagina morphology, Sex reversal, Adrenocorticotropic hormone e... ORPHA:289548
Cystic Echinococcosis
Ovarian cyst, Abnormality of the testis size, Hepatomegaly ORPHA:400
Familial Partial Lipodystrophy, Dunnigan Type
Polycystic ovaries, Hepatomegaly, Splenomegaly ORPHA:2348
Tessadori-Van Haaften Neurodevelopmental Syndrome 3
Precocious puberty, Macroorchidism OMIM:619950
Primary Lipodystrophy
Polycystic ovaries, Splenomegaly ORPHA:90970
Luscan-Lumish Syndrome
Polycystic ovaries OMIM:616831
Popliteal Pterygium Syndrome
Hypoplasia of the uterus, Bifid scrotum, Small scrotum, Hypoplasia of the vagina, Cryptorchidism,... OMIM:119500
46,Xy Sex Reversal 4
Sex reversal, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Agonadism, Gonadal dysgen... OMIM:154230
Peutz-Jeghers Syndrome
Ovarian cyst, Precocious puberty with Sertoli cell tumor, Uterine neoplasm, Neoplasm of the pancreas OMIM:175200
Pparg-Related Familial Partial Lipodystrophy
Polycystic ovaries, Hepatomegaly, Splenomegaly ORPHA:79083
Renal Cysts And Diabetes Syndrome
Hypoplasia of the uterus, Bicornuate uterus, Atretic vas deferens, Hypospadias, Pancreatic hypopl... OMIM:137920
Bardet-Biedl Syndrome 1
Micropenis, Left ventricular hypertrophy, Decreased testicular size, Hypogonadism, Vaginal atresi... OMIM:209900
Pontocerebellar Hypoplasia Type 7
Micropenis, Gonadal dysgenesis, Absent penis, Optic atrophy, Ambiguous genitalia, Abnormal scrota... ORPHA:284339
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Polycystic ovaries, Premature thelarche, Papilledema, Nodular goiter ORPHA:371428
Proteus-Like Syndrome
Polycystic ovaries, Thymus hyperplasia, Abnormality of the parathyroid gland, Splenomegaly ORPHA:2969
Aspartylglucosaminuria
Hepatomegaly, Splenomegaly, Macroorchidism ORPHA:93
Oeis Complex
Labial hypoplasia, Ambiguous genitalia, female, Vesicovaginal fistula, Ambiguous genitalia, male,... OMIM:258040
Aspartylglucosaminuria
Hepatomegaly, Macroorchidism OMIM:208400
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Cryptorchidism, Small pituitary gland, Streak ovary, Hypergonadotropic hypogonadism, Agonadism, A... ORPHA:2232
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Uterus didelphys, Septate vagina, Aplasia of the uterus, Vaginal atresia, Par... ORPHA:2237
Chromosome 17Q12 Deletion Syndrome
Ovarian cyst, Unicornuate uterus, Urethral stenosis, Aplasia of the uterus, Aplasia of the vagina... OMIM:614527
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the uterus, Aplasia of the vagina, Urethral atresia, Absent external genitalia OMIM:271520
Infantile Systemic Hyalinosis
Polycystic ovaries ORPHA:2176
Acquired Generalized Lipodystrophy
Polycystic ovaries, Hepatomegaly ORPHA:79086
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Micropenis, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadi... OMIM:241080
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Papillary cystadenoma of the epididymis, Papilledema, Adrenal pheochrom... ORPHA:892
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Polycystic ovaries, Hepatomegaly, Splenomegaly ORPHA:79240
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Polycystic ovaries, Hepatomegaly, Splenomegaly ORPHA:370
Fibrous Dysplasia Of Bone
Precocious puberty in females, Elevated circulating growth hormone concentration, Ovarian cyst, T... ORPHA:249
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Decreased response to growth hormone stimulation test, Micropenis, Stre... ORPHA:3464
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Polycystic ovaries, Hepatomegaly, Splenomegaly ORPHA:264580
Lipodystrophy, Familial Partial, Type 2
Polycystic ovaries, Hepatomegaly, Labial pseudohypertrophy OMIM:151660
Phocomelia, Schinzel Type
Aplasia of the uterus, Cryptorchidism, Hypoplasia of penis ORPHA:2879
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Urogenital sinus anomaly, Precocious puberty in females, Ambiguous genitalia, female, Abnormal ex... ORPHA:90794
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Chordee, Labial hypoplasia, Vesicovaginal fistula, Bifid scrotum, Micropenis, Hypospadias, Ambigu... OMIM:201750
Meckel Syndrome 14
Aplasia of the uterus, Ambiguous genitalia OMIM:619879
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Bifid uterus, Supernumerary nipple, Abnormal reproductive system morphology ORPHA:1521
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Polycystic ovaries, Hepatomegaly, Splenomegaly ORPHA:280365
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus ORPHA:3320
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating lute... ORPHA:572333
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Splenomegaly, Labial hypertrophy, Clitoral hypertrophy, Polycystic ovaries OMIM:608594
Limb-Mammary Syndrome
Absent nipple, Bilateral breast hypoplasia, Hypoplastic nipples, Breast aplasia, Aplasia of the u... ORPHA:69085
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Aplasia of the vagina, Optic nerve hypoplasia ORPHA:457284
Histiocytoid Cardiomyopathy
Polycystic ovaries, Optic atrophy, Hepatomegaly, Cardiomegaly ORPHA:137675
Exstrophy-Epispadias Complex
Cystocele, Bifid scrotum, Bifid uterus, Absent penis, Bifid penis, Penoscrotal transposition, Epi... ORPHA:322
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Splenomegaly, Labial hypertrophy, Clitoral hypertrophy, Polycystic ovaries OMIM:269700
Cardiac-Urogenital Syndrome
Bifid scrotum, Micropenis, Unilateral cryptorchidism, Enlarged kidney, Ambiguous genitalia, Penos... OMIM:618280
Floating-Harbor Syndrome
Hypospadias, Glandular hypospadias, Varicocele, Congenital posterior urethral valve, Cryptorchidi... OMIM:136140
Orofaciodigital Syndrome I
Ovarian cyst, Pancreatic cysts OMIM:311200
Floating-Harbor Syndrome
Precocious puberty, Hypospadias, Varicocele, Congenital posterior urethral valve, Cryptorchidism,... ORPHA:2044
Fanconi Anemia, Complementation Group L
Aplasia of the uterus, Micropenis OMIM:614083
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Polycystic ovaries, Hepatomegaly, Enlarged kidney ORPHA:79259
Digeorge Syndrome
Hydrocele testis, Cholelithiasis, Splenomegaly, Ovarian cyst, Hypoplasia of the thymus, Parathyro... OMIM:188400
Townes-Brocks Syndrome 1
Bifid scrotum, Hypospadias, Bifid uterus, Rectoperineal fistula, Urethral valve, Cryptorchidism, ... OMIM:107480
Hydrolethalus Syndrome 1
Abnormal vagina morphology, Bifid uterus, Hypospadias, Adrenal gland dysgenesis OMIM:236680
Ehlers-Danlos Syndrome, Vascular Type
Uterine prolapse, Uterine rupture, Cystocele, Cervical insufficiency, Cryptorchidism OMIM:130050
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Hepatosplenomegaly, Pancreatic cysts OMIM:274000
Neu-Laxova Syndrome 1
Bifid uterus, Cryptorchidism OMIM:256520
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Anteriorly displaced genitalia, Hypospadias, Hypoplastic nipples, Aplasia of the uterus, Cryptorc... OMIM:276820
Turner Syndrome Due To Structural X Chromosome Anomalies
Increased circulating gonadotropin level, Abnormality of the ovary, Gonadoblastoma ORPHA:99413
Turner Syndrome
Increased circulating gonadotropin level, Abnormality of the ovary, Gonadoblastoma ORPHA:881
Mosaic Monosomy X
Increased circulating gonadotropin level, Abnormality of the ovary, Gonadoblastoma ORPHA:99228
Monosomy X
Increased circulating gonadotropin level, Abnormality of the ovary, Gonadoblastoma ORPHA:99226
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Wolf-Hirschhorn Syndrome
Aplasia of the uterus, Hypospadias, Cryptorchidism, Precocious puberty OMIM:194190
Coffin-Siris Syndrome 1
Aplasia of the uterus, Hypospadias, Cryptorchidism, Clitoral hypertrophy OMIM:135900
Norrie Disease
Optic atrophy, Cryptorchidism, Uterine rupture ORPHA:649
Williams Syndrome
Cholelithiasis, Precocious puberty, Hypoplasia of penis, Hypogonadotropic hypogonadism, Urethral ... ORPHA:904
Okamoto Syndrome
Bifid uterus, Splenomegaly ORPHA:2729
Vascular Ehlers-Danlos Syndrome
Uterine prolapse, Cystocele, Uterine rupture, Hypospadias, Cryptorchidism ORPHA:286
Alström Syndrome
Precocious puberty in females, Hepatomegaly, Decreased response to growth hormone stimulation tes... ORPHA:64
Pallister-Killian Syndrome
Labial hypoplasia, Supernumerary nipple, Hypospadias, Aplasia of the upper vagina, Hypoplastic la... OMIM:601803

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
Lamtor1tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Lamtor1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Lamtor1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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