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Gene: Lats1 MGI:1333883

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Gene Summary

Name:
large tumor suppressor
Synonyms:
N/A

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
increased grip strength Lats1em1(IMPC)H HOM Early adult 3.48×10-09
decreased grip strength Lats1em1(IMPC)H HET   Early adult 1.31×10-06
decreased prepulse inhibition Lats1em1(IMPC)H HOM   Early adult 1.45×10-05
decreased locomotor activity Lats1em1(IMPC)H HOM   Early adult 2.73×10-08
decreased hemoglobin content Lats1em1(IMPC)H HOM Early adult 1.37×10-06
increased circulating alanine transaminase level Lats1em1(IMPC)H HOM Early adult 1.98×10-05

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Viewing: all phenotypes
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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Lats1 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 Lats1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... OMIM:228300
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Absence of pubertal development, Gynecomastia, Cryptorchi... OMIM:614837
Premature Ovarian Failure 8
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Elevated... OMIM:615723
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Decreased testicular size, Reduced response to gonadotro... OMIM:616030
Kallmann Syndrome With Spastic Paraplegia
Sparse pubic hair, Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Cry... OMIM:308750
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration ORPHA:231249
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Decreased testicular size, Azoospermia, Decreased serum ... OMIM:614897
Pituitary Hormone Deficiency, Combined, 2
Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal... OMIM:262600
Hyperprolactinemia
Female infertility, Increased circulating prolactin concentration, Galactorrhea, Oligomenorrhea, ... OMIM:615555
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Sparse pubic hair, Decreased serum testosterone concentration, Decreased testicula... OMIM:308700
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased serum estradiol, Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormo... OMIM:614842
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome
Alopecia, Hypopituitarism, Type II diabetes mellitus, Reduced circulating growth hormone concentr... OMIM:620651
Serrated Polyposis Syndrome
Biliary tract neoplasm, Neoplasm of the large intestine, Pancreatic adenocarcinoma, Schwannoma, P... ORPHA:157798
Delayed Puberty, Self-Limited
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Delayed puberty, Decre... OMIM:619613
Maffucci Syndrome
Pituitary adenoma, Goiter, Chondrosarcoma, Neoplasm of the parathyroid gland, Breast carcinoma, A... ORPHA:163634
Polyendocrine-Polyneuropathy Syndrome
Alopecia, Central hypothyroidism, Decreased serum testosterone concentration, Decreased testicula... ORPHA:453533
Hereditary Breast And/Or Ovarian Cancer Syndrome
Prostate cancer, Melanoma, Abnormal fallopian tube morphology, Primary peritoneal carcinoma, Ovar... ORPHA:145
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Hirsutism, Ambiguous gen... ORPHA:206484
Thyroid Cancer, Nonmedullary, 4
Goiter, Prostate cancer, Papillary thyroid carcinoma, Basal cell carcinoma, Ovarian neoplasm OMIM:616534
Post-Traumatic Pituitary Deficiency
Aplasia/Hypoplasia of the breasts, Hypotension, Decreased response to growth hormone stimulation ... ORPHA:95619
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Primary amenorrhea, De... OMIM:614839
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... ORPHA:251510
Werner Syndrome
Neoplasm of the oral cavity, Premature graying of hair, Slender build, Decreased fertility, Type ... ORPHA:902
Li-Fraumeni Syndrome
Choriocarcinoma, Colon cancer, Stomach cancer, Melanoma, Hodgkin lymphoma, Acute myeloid leukemia... ORPHA:524
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Micropenis, Decreased circulating luteinizing hormone level, Cryptorchidism, Congenital adrenal h... OMIM:202150
Ring Chromosome Y Syndrome
Streak ovary, Cryptorchidism, Abnormality of the female genitalia, Hypospadias, Male infertility,... ORPHA:261529
Functioning Gonadotropic Adenoma
Galactorrhea, Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation tes... ORPHA:91348
Ovarian Cancer
Ovarian papillary adenocarcinoma, Breast carcinoma, Dysgerminoma OMIM:167000
Ovarian Fibrothecoma
Abnormality of the ovary, Gonadal calcification, Diffuse leiomyomatosis, Metrorrhagia, Hirsutism,... ORPHA:314478
Breast-Ovarian Cancer, Familial, Susceptibility To, 2
Ovarian neoplasm, Breast carcinoma OMIM:612555
Breast-Ovarian Cancer, Familial, Susceptibility To, 1
Ovarian neoplasm, Breast carcinoma OMIM:604370
Schöpf-Schulz-Passarge Syndrome
Sparse hair, Alopecia, Facial telangiectasia, Squamous cell carcinoma, Aplasia/Hypoplasia of the ... ORPHA:50944
Breast-Ovarian Cancer, Familial, Susceptibility To, 3
Ovarian carcinoma, Breast carcinoma OMIM:613399
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... OMIM:612310
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty, Micropenis, Decreased circulating... OMIM:619761
Acquired Hypertrichosis Lanuginosa
Neoplasm of the respiratory system, Fine hair, Abnormal eyebrow morphology, Neoplasm, Generalized... ORPHA:2221
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 2
Highly arched eyebrow, Absent nipple, Male urethral meatus stenosis, Cryptorchidism, Hypoplastic ... OMIM:616001
Premature Ovarian Failure 13
Female infertility, Amenorrhea, Elevated circulating follicle stimulating hormone level, Oligomen... OMIM:617442
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Breast hypoplasia,... ORPHA:2235
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Spermatogenic Failure 14
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615842
Meningioma
Neoplasm of the skin, Increased circulating prolactin concentration, Neoplasm of the posterior pi... ORPHA:2495
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper... OMIM:229070
Oocyte/Zygote/Embryo Maturation Arrest 8
Abnormality of the menstrual cycle, Female infertility, Abnormal circulating estrogen level OMIM:619009
Premature Ovarian Failure 22
Female infertility, Elevated circulating follicle stimulating hormone level, Premature ovarian in... OMIM:620548
Peripheral Primitive Neuroectodermal Tumor
Precocious puberty, Neoplasm of the scrotum, Uterine neoplasm, Abnormal bleeding, Neoplasm of the... ORPHA:370348
Subependymoma
Ependymoma, Neoplasm of the liver, Supratentorial neoplasm, Spinal cord tumor, Ovarian neoplasm, ... ORPHA:251639
Ependymoma
Ependymoma, Neoplasm of the liver, Supratentorial neoplasm, Spinal cord tumor, Ovarian neoplasm, ... ORPHA:251636
Carney Complex
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level... ORPHA:1359
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Congestive heart failure, Visceral angiomatosis, Neoplasm of the thyroid gland, Ovarian neoplasm,... ORPHA:137608
Desmoplastic Small Round Cell Tumor
Cachexia, Weight loss, Testicular neoplasm, Sarcoma, Ovarian neoplasm, Neoplasm of the pancreas, ... ORPHA:83469
Rhabdomyosarcoma, Embryonal, 2
Pleuropulmonary blastoma, Goiter, Ovarian thecoma, Nephroblastoma, Multinodular goiter, Embryonal... OMIM:180295
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Obesity, Ty... OMIM:619326
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility, Miscarriage OMIM:619176
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Infertility, Galactorrhea, Amenorrhea, Oligomenorrhea, Female hypogonad... ORPHA:397685
Pituicytoma
Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Increased circ... ORPHA:251623
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Aplasia of the ovary, Elevate... OMIM:614324
Spermatogenic Failure 13
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615841
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test... OMIM:614841
Lynch Syndrome
Neoplasm of the skin, Death in early adulthood, Neoplasm of the skeletal system, Neoplasm of the ... ORPHA:144
46,Xy Sex Reversal 6
Sex reversal, Clitoral hypertrophy, Gonadal dysgenesis, Hirsutism, Sparse axillary hair, Chordee,... OMIM:613762
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Hypopituitari... ORPHA:226307
Frasier Syndrome
Primary amenorrhea, Ovarian gonadoblastoma, Male pseudohermaphroditism, Gonadal dysgenesis OMIM:136680
Familial Multinodular Goiter
Sertoli cell neoplasm, Pleuropulmonary blastoma, Alveolar rhabdomyosarcoma, Thyroid carcinoma, Pi... ORPHA:276399
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Ectopic posterior pituitary, Anterior pituitary agenesis, Absent pituitary stalk, Interrupted pit... OMIM:620303
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Absence of pubertal developm... OMIM:619755
Non-Functioning Pituitary Adenoma
Hypopituitarism, Central adrenal insufficiency, Decreased fertility in females, Female hypogonadi... ORPHA:91349
Spermatogenic Failure, X-Linked, 4
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos... OMIM:301077
Limb-Mammary Syndrome
Alopecia, Absent nipple, Sparse eyebrow, Breast aplasia, Aplasia of the ovary, Aplasia of the ute... ORPHA:69085
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility, Reduced circulating prolactin concentration OMIM:264110
Pituitary Hormone Deficiency, Combined, 6
Ectopic posterior pituitary, Decreased circulating ACTH concentration, Posterior pituitary hypopl... OMIM:613986
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Delayed puberty, Female infertility, Primary amenorrhea OMIM:300604
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 1
Aplasia/Hypoplasia of the nipples, Absent nipple, Hypoplastic areola, Aplasia/Hypoplasia of the b... OMIM:113700
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I ORPHA:488191
Fanconi Anemia, Complementation Group S
Failure to thrive, Long eyelashes, Ovarian carcinoma, Low anterior hairline, Sparse hair, Ovarian... OMIM:617883
Oocyte/Zygote/Embryo Maturation Arrest 9
Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility OMIM:619011
Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Sparse pubic hair, Neoplasm, Gynecomastia, Sparse... OMIM:300068
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... OMIM:603902
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Decreased testicular size, Abnormality of the ovary, Wide intermamillary distance ORPHA:1875
Hemoglobin H Disease
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Cowden Syndrome 1
Thyroiditis, Varicocele, Thyroid adenoma, Subcutaneous lipoma, Goiter, Meningioma, Fibroadenoma o... OMIM:158350
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Ovarian Fibromata
Ovarian fibroma OMIM:166970
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Muir-Torre Syndrome
Sebaceous gland carcinoma, Colon cancer, Malignant genitourinary tract tumor, Duodenal adenocarci... OMIM:158320
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Hypogonadism, Hypoplastic nipples, Arrhythmia, Hypoplastic areola, Sparse hair OMIM:273400
46,Xy Sex Reversal 7
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... OMIM:233420
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 14
Female infertility, Oocyte maturation arrest OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Premature Ovarian Failure 20
Elevated circulating luteinizing hormone level, Female infertility, Elevated circulating follicle... OMIM:619938
Cerebellar Ataxia-Hypogonadism Syndrome
Supernumerary nipple, Hypogonadism, Decreased fertility, Gynecomastia, Hypogonadotropic hypogonad... ORPHA:1173
Spermatogenic Failure 77
Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor... OMIM:620103
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Vanishing testis, Decreased serum testosterone co... OMIM:273250
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abn... ORPHA:168563
Premature Ovarian Failure 7
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevate... OMIM:612964
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... ORPHA:90793
Ovarian Dysgenesis 9
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar... OMIM:619665
Premature Ovarian Failure 19
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea OMIM:619245
Ectopic Aldosterone-Producing Tumor
Epistaxis, Decreased circulating renin level, Renal cortical adenoma, Ovarian neoplasm, Hypertens... ORPHA:231632
Leydig Cell Hypoplasia
Cryptorchidism, Male pseudohermaphroditism, Primary amenorrhea, Abnormal internal genitalia, Fema... ORPHA:755
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Aplasia/Hypoplasia of the breasts, Hypotension, Ectopic anterior pit... ORPHA:90695
46,Xy Sex Reversal 10
Sex reversal, Small scrotum, Perineal hypospadias, Bifid scrotum, Gonadal dysgenesis, Decreased t... OMIM:616425
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Absent nipple, Xerostomia, Sparse lateral eyebrow, Sparse body hair, Sparse eyelashes, Absent eye... OMIM:614941
Panhypophysitis
Increased circulating prolactin concentration, Abnormal posterior pituitary morphogenesis, Decrea... ORPHA:95513
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Adenohypophysitis
Secondary growth hormone deficiency, Decreased serum estradiol, Adrenocorticotropin deficient adr... ORPHA:95512
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Primary amenorrhea, Gonadal dysgenesis OMIM:233300
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Increased serum estradiol, Absent axillary hair, ... ORPHA:99429
Gangliocytoma
Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Decreased female libido, Ganglione... ORPHA:251937
46,Xy Sex Reversal 1
Abnormal male external genitalia morphology, Elevated circulating luteinizing hormone level, Gona... OMIM:400044
Asherman Syndrome
Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Decreased fertility in females, O... ORPHA:137686
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Tumor Predisposition Syndrome 4
Glioma, Meningioma, Stomach cancer, Sarcoma, Breast carcinoma OMIM:609265
Ovarian Dysgenesis 7
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:618117
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Absent nipple, Absent hair, Anhidrosis, Hypohidrosis, Brittle hair, Sparse hair OMIM:614940
Ovarian Dysgenesis 10
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Hypoplas... OMIM:619834
Premature Ovarian Failure 18
Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ... OMIM:619203
Adult Syndrome
Absent nipple, Wide intermamillary distance, Fair hair, Breast hypoplasia, Alopecia of scalp, Spa... OMIM:103285
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Spermatogenic Failure 15
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin... OMIM:616950
Sheehan Syndrome
Central adrenal insufficiency, Decreased serum estradiol, Sparse pubic hair, Breast hypoplasia, O... ORPHA:91355
Ane Syndrome
Alopecia, Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth hormo... ORPHA:157954
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Sparse pubic hair, Decreased serum testosterone con... ORPHA:52901
Li-Fraumeni Syndrome
Choriocarcinoma, Acute leukemia, Osteosarcoma, Prostate cancer, Nephroblastoma, Lung adenocarcino... OMIM:151623
Lynch Syndrome 5
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Neoplasm of the pancreas, Ov... OMIM:614350
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... ORPHA:399805
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Adult Syndrome
Alopecia, Absent nipple, Fine hair, Breast hypoplasia, Hypoplastic nipples, Sparse scalp hair ORPHA:978
Neuroendocrine Neoplasm Of Appendix
Increased serum serotonin, Adenocarcinoma of the colon, Hypotension, Primary hypercortisolism, Pa... ORPHA:100079
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Obesity, Reduced circulating prolactin concentration OMIM:264120
Tetraamelia Syndrome 2
Micropenis, Absent nipple OMIM:618021
Chromosome Xq27.3-Q28 Duplication Syndrome
Sparse body hair, Decreased serum testosterone concentration, Decreased testicular size, Hypogona... OMIM:300869
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Squamous cell carcino... OMIM:606719
Ovarian Fibroma
Abnormality of the ovary, Gonadal calcification, Ovarian fibroma, Odontogenic keratocysts of the ... ORPHA:314473
Lynch Syndrome 4
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Ovarian neoplasm OMIM:614337
Müllerian Aplasia And Hyperandrogenism
High anterior hairline, Frontal balding, Abnormal vagina morphology, Abnormality of the ovary, Fa... ORPHA:247768
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ... ORPHA:90797
46,Xx Gonadal Dysgenesis
Decreased serum estradiol, Aplasia/Hypoplasia of the breasts, Sparse pubic hair, Aplasia/hypoplas... ORPHA:243
Hypergonadotropic Hypogonadism-Cataract Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Decreased fertilit... ORPHA:2410
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Sparse pubic hair, Decreased testicular size, Gynecomastia, Cryptorchidism, Hypogonadotropic hypo... OMIM:146110
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Polycystic ovaries, Oligomenorrhea, Abnormal circulating hormone concentration,... ORPHA:280356
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi... OMIM:612885
Barber-Say Syndrome
Sparse eyebrow, Absent nipple, Hypertrichosis, Cryptorchidism, Inverted nipples, Sparse eyelashes... OMIM:209885
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Hypothyroidism, Central, With Testicular Enlargement
Hypothyroidism, Overweight, Reduced circulating prolactin concentration, Inappropriately normal t... OMIM:300888
Spermatogenic Failure 2
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm... OMIM:108420
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Ulnar-Mammary Syndrome
Abnormality of the uterus, Breast aplasia, Obesity, Decreased fertility, Cryptorchidism, Hypoplas... ORPHA:3138
Ovarian Dysgenesis 5
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:617690
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Frasier Syndrome
Decreased serum estradiol, Streak ovary, Nephroblastoma, Ambiguous genitalia, male, Male pseudohe... ORPHA:347
Ollier Disease
Precocious puberty, Neoplasm, Hemangioma, Sarcoma, Multiple enchondromatosis, Visceral angiomatos... ORPHA:296
Perrault Syndrome 4
Decreased serum estradiol, Obesity, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, ... OMIM:615300
Fontaine Progeroid Syndrome
Small scrotum, Absent nipple, Coarse hair, Failure to thrive, Hypertrichosis, Tricuspid regurgita... OMIM:612289
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Sparse body hair, Decreased fertility, Cryptorchi... ORPHA:90796
Hidrotic Ectodermal Dysplasia, Halal Type
Irregular menstruation, Sparse body hair, Supernumerary nipple, Absent eyelashes, Trichodysplasia... ORPHA:1809
Lhermitte-Duclos Disease
Fibroadenoma of the breast, Trichilemmoma, Neoplasm of the thyroid gland, Ovarian neoplasm ORPHA:65285
Atypical Werner Syndrome
Aortic valve stenosis, Neoplasm of the skin, Insulin-resistant diabetes mellitus, Neoplasm of the... ORPHA:79474
Familial Pancreatic Carcinoma
Colon cancer, Pancreatic adenocarcinoma, Exocrine pancreatic insufficiency, Ovarian carcinoma, Me... ORPHA:1333
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Premature Ovarian Failure 1
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation OMIM:311360
Progressive Osseous Heteroplasia
Sarcoma, Abnormality of the parathyroid gland ORPHA:2762
Pituitary Apoplexy
Hypotension, Pituitary adenoma, Increased circulating cortisol level, Increased circulating prola... ORPHA:95613
Acrorenal-Mandibular Syndrome
Absent nipple, Uterus didelphys, Abnormality of the breast, Unicornuate uterus, Bicornuate uterus OMIM:200980
Polycystic Ovary Syndrome 1
Obesity, Hirsutism, Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea OMIM:184700
Denys-Drash Syndrome
Ovarian gonadoblastoma, Uterus didelphys, Gonadal dysgenesis, Ambiguous genitalia, female, Septat... OMIM:194080
Premature Ovarian Failure 9
Elevated circulating luteinizing hormone level, Amenorrhea, Hypoplasia of the ovary, Elevated cir... OMIM:615724
Ovarian Dysgenesis 8
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Eunuchoid habitus, Hyp... OMIM:618187
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Sparse eyebrow, Absent nipple, Fine hair, Sparse body hair, Brittle hair, Sparse eyelashes, Aplas... OMIM:305100
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Ovarian Dysgenesis 4
Decreased body weight, Decreased serum estradiol, Elevated circulating follicle stimulating hormo... OMIM:616185
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Perrault Syndrome 3
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... OMIM:614129
Pituitary Adenoma 1, Multiple Types
Irregular menstruation, Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulatin... OMIM:102200
X-Linked Intellectual Disability, Van Esch Type
Male hypogonadism, Failure to thrive, Absence of secondary sex characteristics, Decreased testicu... ORPHA:163976
Hypogonadism-Cataract Syndrome
Hypogonadism, Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone l... OMIM:240950
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Non-o... OMIM:618086
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Anterior pituitary agenesis, Aplasia/Hypoplasia of the breasts, Hypo... ORPHA:95494
Premature Ovarian Failure 21
Decreased serum estradiol, Precocious puberty in females, Streak ovary, Elevated circulating foll... OMIM:620311
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries ORPHA:1643
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
Tumor Predisposition Syndrome 2
Meningioma, Juvenile type ovarian granulosa cell tumor, Schwannoma, Ductal carcinoma in situ, Uve... OMIM:619975
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Highly arched eyebrow, Sparse pubic hair, Female infertility, Abnormality... OMIM:110100
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Sparse hair, Sparse eyebrow, Absent nipple, Congenital hypothyroidism, Nail dystrophy, Aplasia of... OMIM:620186
Aromatase Deficiency
Female infertility, Male infertility, Ambiguous genitalia, female, Obesity, Female pseudohermaphr... ORPHA:91
Congenital Factor Vii Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ... ORPHA:327
Ovarian Dysgenesis 2
Streak ovary, Hirsutism, Delayed puberty, Primary amenorrhea, Premature ovarian insufficiency, Hy... OMIM:300510
Cortisone Reductase Deficiency 1
Precocious puberty, Alopecia, Obesity, Hirsutism, Oligomenorrhea, Infertility OMIM:604931
Normosmic Congenital Hypogonadotropic Hypogonadism
Sparse body hair, Non-obstructive azoospermia, Absence of pubertal development, Cryptorchidism, I... ORPHA:432
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Polycystic ovaries, Hirsutism, Amenorrhea, Oligomenorrhea, Menorrhagia ORPHA:2795
Legius Syndrome
Acute monocytic leukemia, Male urethral meatus stenosis, Vestibular schwannoma, Nephroblastoma, P... ORPHA:137605
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Satoyoshi Syndrome
Alopecia universalis, Abnormality of the uterus, Abnormality of the ovary, Abnormal hair morpholo... ORPHA:3130
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis... ORPHA:399808
Reticulum Cell Sarcoma
Sarcoma, Neoplasm OMIM:267730
Polyembryoma
Irregular menstruation, Increased serum serotonin, Abnormal onset of bleeding, Gonadal neoplasm, ... ORPHA:180229
49,Xxxyy Syndrome
Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De... ORPHA:261534
Ectodermal Dysplasia With Adrenal Cyst
Breast hypoplasia, Hypoplastic nipples, Hypohidrosis, Abnormality of the endocrine system OMIM:129550
Premature Ovarian Failure 17
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ... OMIM:619146
Hepatic Adenomas, Familial
Hepatocellular adenoma, Maturity-onset diabetes of the young, Polycystic ovaries OMIM:142330
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Perrault Syndrome 6
Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl... OMIM:617565
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Absent nipple OMIM:104350
X-Linked Intellectual Disability, Cilliers Type
Male hypogonadism, Failure to thrive, Absence of secondary sex characteristics, Decreased testicu... ORPHA:163971
Premature Ovarian Failure 15
Irregular menstruation, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, ... OMIM:618096
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... ORPHA:98754
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Non-obstructive azoospermia, Streak ovary, Cryptorchidism, Aplasia of the ovary, Primary amenorrh... ORPHA:2232
Prolactinoma
Central adrenal insufficiency, Galactorrhea, Decreased fertility in females, Elevated circulating... ORPHA:2965
Martin-Probst Syndrome
Wide intermamillary distance, Bifid scrotum, Cryptorchidism, Telangiectasia, Hypoplastic nipples,... OMIM:300519
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Failure to thrive, Hypopituitarism, Decreased thyroid-stimulating hormone level, Decreased circul... OMIM:613038
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Precocious puberty, Hypotension, Increased circulating prolactin concentration, Hypopituitarism, ... ORPHA:91354
Scarf Syndrome
Wide intermamillary distance, Perineal hypospadias, Bifid scrotum, Cryptorchidism, Low posterior ... ORPHA:3134
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... ORPHA:98793
Steinert Myotonic Dystrophy
Neoplasm of the skin, Hyperinsulinemia, Decreased fertility, Choroidal melanoma, Brain neoplasm, ... ORPHA:273
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Premature adrenarche, Clitoral hypertrophy, Polycystic ovaries, Decreased circulating renin level... ORPHA:90795
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... ORPHA:177904
Premature Ovarian Failure 16
Reduced antral follicle count, Decreased serum estradiol, Elevated circulating follicle stimulati... OMIM:618723
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Dilated cardiomyopathy, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... ORPHA:177901
Hypogonadotropic Hypogonadism 25 With Anosmia
Decreased serum estradiol, Decreased serum testosterone concentration, Hypothalamic gonadotropin-... OMIM:618841
Becker Nevus Syndrome
Aplasia/Hypoplasia of the breasts, Supernumerary nipple, Abnormal scrotum morphology, Hamartoma, ... ORPHA:64755
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Breast hypoplasia, Hyperinsulinemia, Absence of puberta... ORPHA:785
Estrogen Resistance
Breast aplasia, Hyperinsulinemia, Increased serum estradiol, Polycystic ovaries, Increased circul... OMIM:615363
Rhabdoid Tumor
Neoplasm of the liver, Weight loss, Internal hemorrhage, Renal neoplasm, Sarcoma, Hypertension, N... ORPHA:69077
Prader-Willi Syndrome
Premature adrenarche, Small scrotum, Xerostomia, Central adrenal insufficiency, Cryptorchidism, H... ORPHA:739
Premature Ovarian Failure 5
Reduced antral follicle count, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Prematu... OMIM:611548
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma, Weight loss ORPHA:2023
Ichthyosis With Confetti
Hypoplastic nipples, Hypertrichosis, Decreased body weight OMIM:609165
Intellectual Developmental Disorder, Autosomal Dominant 47
Thin eyebrow, Small for gestational age, Cryptorchidism, Supernumerary nipple OMIM:617635
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features
Hypoplastic female external genitalia, Hypospadias, Hypoplastic nipples OMIM:177980
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Female infertility, Goiter OMIM:617577
Branchioskeletogenital Syndrome
Highly arched eyebrow, Absent external genitalia, Absent nipple, Penoscrotal hypospadias, Micrope... ORPHA:1299
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Msh3-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the skin, Thyroid adenoma, Colon cancer, Stomach cancer, Juvenile gastrointestinal po... ORPHA:480536
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ... ORPHA:572333
Choroidal Atrophy-Alopecia Syndrome
Fine hair, Supernumerary nipple, Ungual fibroma, Thin eyebrow, Sparse or absent eyelashes, Sparse... ORPHA:1433
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Failure to thrive, Cryptorchidism, Death in infancy, Hypothyroidism,... ORPHA:95496
Infantile Myofibromatosis
Neoplasm of the skin, Abnormal hair morphology, Benign neoplasm of the central nervous system, Fi... ORPHA:2591
Acquired Ichthyosis
Sarcoma, Neoplasm, Multiple myeloma, Lymphoma ORPHA:454
Perrault Syndrome 1
Increased circulating gonadotropin level, Primary amenorrhea, Gonadal dysgenesis OMIM:233400
Resistance To Thyrotropin-Releasing Hormone Syndrome
Increased circulating prolactin concentration, Decreased circulating T4 concentration, Reduced ra... ORPHA:99832
Nipples, Supernumerary
Supernumerary nipple OMIM:163700
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Global Developmental Delay With Speech And Behavioral Abnormalities
Precocious puberty, Cryptorchidism, Supernumerary nipple OMIM:619243
Boucher-Neuhauser Syndrome
Hypogonadotropic hypogonadism, Decreased circulating gonadotropin concentration OMIM:215470
Pituitary Gigantism
Pituitary prolactin cell adenoma, Increased circulating prolactin concentration, Pituitary growth... ORPHA:99725
Premature Ovarian Failure 2A
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Elevated circula... OMIM:300511
Burkitt Lymphoma
Abnormality of the ovary, Gastrointestinal hemorrhage, Neoplasm of the oral cavity ORPHA:543
19Q13.11 Microdeletion Syndrome
Wide intermamillary distance, Failure to thrive, Bifid scrotum, Supernumerary nipple, Sparse late... ORPHA:217346
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Basal Cell Nevus Syndrome 1
Hamartomatous stomach polyps, Cardiac rhabdomyoma, Medulloblastoma, Cardiac fibroma, Ovarian carc... OMIM:109400
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Small pituitary gland, Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty, Primary am... OMIM:612702
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:276152
Nut Midline Carcinoma
Ewing sarcoma, Neoplasm, Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell ... ORPHA:443167
Myofibromatosis, Infantile, 1
Myofibromatosis, Fibroma OMIM:228550
Barber-Say Syndrome
Failure to thrive, Breast aplasia, Sparse or absent eyelashes, Generalized hirsutism, Hypoplastic... ORPHA:1231
Apert Syndrome
Ovarian neoplasm, Hypertension ORPHA:87
Congenital Fibrinogen Deficiency
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Hemorrhagic ovarian cyst, Decrease... ORPHA:335
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Scarf Syndrome
Wide intermamillary distance, Bifid scrotum, Cryptorchidism, Low anterior hairline, Low posterior... OMIM:312830
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Decreased testicular size, Cryptorchidism, Primary amenorrhea, Micropenis OMIM:614880
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Premature adrenarche, Clitoral hypertrophy, Frontal balding, Decreased fertility, Weight loss, Ab... ORPHA:90794
Stolerman Neurodevelopmental Syndrome
Hypoplastic nipples, Hemangioma, Cryptorchidism OMIM:618505
Premature Ovarian Failure 11
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Secondary amenorrhea OMIM:616946
Kallmann Syndrome
Abnormal morphology of female internal genitalia, Breast hypoplasia, Decreased testicular size, H... ORPHA:478
X-Linked Acrogigantism
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... ORPHA:300373
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Hydrocolpos, Uterus didelphys, Metrorrhagia, Dysmenorrhea, Dyspareunia, Abnormal uterine cervix m... ORPHA:3411
Premature Ovarian Failure 14
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:618014
Tsh-Secreting Pituitary Adenoma
Increased circulating prolactin concentration, Central adrenal insufficiency, Decreased fertility... ORPHA:91347
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Tyshchenko Syndrome
Supernumerary nipple, Cryptorchidism, Low anterior hairline, Thick hair, Pulmonic stenosis OMIM:615102
Lipodystrophy, Familial Partial, Type 3
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II diabetes mellitus, Polycystic ovar... OMIM:604367
Full Schwannomatosis
Peripheral schwannoma, Meningioma, Lumbosacral hemangioma, Schwannoma, Neoplasm, Neoplasm of the ... ORPHA:93921
46,Xy Sex Reversal 5
Abnormal female external genitalia morphology, Abnormality of circulating cortisol level, Abnorma... OMIM:613080
Pituitary Dermoid And Epidermoid Cysts
Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Galactorrhea, Hy... ORPHA:91351
46,Xy Sex Reversal 3
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Ambiguo... OMIM:612965
Akt2-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Polycystic ovaries, Oligomenorr... ORPHA:79085
Adrenocortical Carcinoma
Increased circulating cortisol level, Hypertrichosis, Increased urinary cortisol level, Hyperaldo... ORPHA:1501
Multiple Endocrine Neoplasia Type 1
Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma... ORPHA:652
Peroxisome Biogenesis Disorder 5A (Zellweger)
Aortic regurgitation, Clitoral hypertrophy, Failure to thrive, Tricuspid regurgitation, Cryptorch... OMIM:614866
Limb-Mammary Syndrome
Hypoplastic nipples, Hypohidrosis OMIM:603543
Crouzon Syndrome
Dysgerminoma OMIM:123500
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Gardner Syndrome
Colon cancer, Ampulla of Vater carcinoma, Hepatoblastoma, Brain neoplasm, Osteoma, Fibrosarcoma, ... ORPHA:79665
Gray Platelet Syndrome
Epistaxis, Abnormal bleeding, Bruising susceptibility, Abnormality of the menstrual cycle, Myelod... ORPHA:721
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:168558
Solitary Fibrous Tumor
Uterine neoplasm, Genital neoplasm, Vaginal neoplasm, Neoplasm, Prostate cancer, Soft tissue neop... ORPHA:2126
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Small scrotum, Imperforate hymen, Axillary apocrine gland hypoplasia... OMIM:181450
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:289548
Mgat2-Cdg
Abnormal bleeding, Failure to thrive, Long eyelashes, Inverted nipples, Hirsutism, Hypoplastic ni... ORPHA:79329
Hydatidiform Mole
Menometrorrhagia, Hyperthyroidism, Enlarged uterus, Miscarriage ORPHA:99927
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Supernumerary nipple, Tricuspid regurgitation, Interhypothalamic adhesion, Cryptorchidism, Low po... OMIM:618929
Orthostatic Hypotension 1
Atrial fibrillation, Reduced circulating prolactin concentration, Retrograde ejaculation, Orthost... OMIM:223360
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Sparse pubic hair, Sparse eyebrow, Xerostomia, Fair hair, Decreased response to growth hormone st... OMIM:604292
Schinzel-Giedion Midface Retraction Syndrome
Small scrotum, Failure to thrive, Hypertrichosis, Hypoplastic labia minora, Teratoma, Facial hema... OMIM:269150
Aromatase Deficiency
Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Ovarian cyst, Primary amenorrhea OMIM:613546
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Low posterior hairline, Chordee, Abnor... ORPHA:1772
2P15P16.1 Microdeletion Syndrome
Aortic regurgitation, Sparse eyebrow, Wide intermamillary distance, Failure to thrive, Fine hair,... ORPHA:261349
Familial Colorectal Cancer Type X
Gastrointestinal hemorrhage, Uterine neoplasm, Pituitary adenoma, Pancreatic adenocarcinoma, Neop... ORPHA:440437
Apc-Related Attenuated Familial Adenomatous Polyposis
Osteoma, Fibrosarcoma, Desmoid tumors, Adrenocortical adenoma, Medulloblastoma, Multiple gastric ... ORPHA:247806
Hereditary Leiomyomatosis And Renal Cell Cancer
Barrett esophagus, Cutaneous leiomyoma, Papillary renal cell carcinoma type 2, Vaginal neoplasm, ... ORPHA:523
Tetragametic Chimerism
Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Abnormal scrotum morphology, Crypt... ORPHA:199310
Sialuria
Hirsutism, Low posterior hairline, Generalized hirsutism, Hypoplastic nipples, Synophrys OMIM:269921
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Alopecia, Hypospadias, Truncal obesity, Supernumerary nipple ORPHA:3224
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Supernumerary nipple, Congenital hypothyroidism, Cryptorchidism, Pulmonary arterial hypertension,... ORPHA:2519
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Sparse hair, Sparse pubic hair, Sparse eyebrow, Xerostomia, Fair hair, Decreased response to grow... OMIM:129900
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Polycystic ovaries, Oligomenorr... ORPHA:435651
46,Xx Sex Reversal 2
Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased serum tes... OMIM:278850
Woods Syndrome
Frontal hirsutism, Supernumerary nipple OMIM:615236
Cowden Syndrome
Neoplasm of the skin, Follicular thyroid carcinoma, Melanoma, Adenoma sebaceum, Colorectal polypo... ORPHA:201
Acces Syndrome
Failure to thrive, Sparse scalp hair, Supernumerary nipple OMIM:619959
Gorlin Syndrome
Meningioma, Neoplasm, Medulloblastoma, Cryptorchidism, Cardiac fibroma, Hypogonadotropic hypogona... ORPHA:377
Familial Supernumerary Nipples
Supernumerary nipple ORPHA:2456
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Nablus Mask-Like Facial Syndrome
Highly arched eyebrow, Sparse eyebrow, Wide intermamillary distance, Frontal upsweep of hair, Cry... OMIM:608156
Pseudohypoparathyroidism Type 1C
Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Decrease... ORPHA:79444
Congenital Factor V Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hematochezia, Prolonged bleeding follo... ORPHA:326
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Yunis-Varon Syndrome
Sparse eyebrow, Absent nipple, Cardiomyopathy, Failure to thrive in infancy, Cryptorchidism, Spar... OMIM:216340
Pituitary Carcinoma
Pituitary gonadotropic cell adenoma, Pituitary prolactin cell adenoma, Increased circulating prol... ORPHA:300385
46,Xx Sex Reversal 1
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Azoospermia, Gynecomastia, ... OMIM:400045
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development
Dystrophic toenail, Supernumerary nipple, Glandular hypospadias, Long eyelashes, Facial capillary... OMIM:604314
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the skin, Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal aden... ORPHA:454840
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Synophrys, Supernumerary nipple OMIM:616083
Skin Creases, Congenital Symmetric Circumferential, 1
Localized neuroblastoma, Hypoplastic nipples, Wide intermamillary distance OMIM:156610
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Highly arched eyebrow, Supernumerary nipple, Cryptorchidism, Micropenis, Leukemia, Myelodysplasia OMIM:619951
Mast Cell Sarcoma
Sarcoma, Weight loss ORPHA:66661
Incontinentia Pigmenti
Alopecia, Coarse hair, Fine hair, Supernumerary nipple, Breast aplasia, Breast hypoplasia, Atroph... OMIM:308300
Proteus Syndrome
Rib exostoses, Exostosis of the external auditory canal, Generalized hirsutism, Cachexia, Viscera... ORPHA:744
Intellectual Developmental Disorder, Autosomal Recessive 65
Hypospadias, Cryptorchidism, Supernumerary nipple OMIM:618109
Alpha-Thalassemia
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... ORPHA:846
Van Maldergem Syndrome 2
High anterior hairline, Bifid scrotum, Cryptorchidism, Hypoplastic nipples, Micropenis, Hypospadias OMIM:615546
Lipe-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Abnormal labia majora morpholog... ORPHA:435660
Beta-Thalassemia
Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormality of ir... ORPHA:848
Mullerian Aplasia And Hyperandrogenism
Aplasia of the fallopian tube, Aplasia of the vagina, Increased circulating androstenedione conce... OMIM:158330
Filippi Syndrome
Cryptorchidism, Supernumerary nipple ORPHA:3255
Pigmented Nodular Adrenocortical Disease, Primary, 2
Increased circulating cortisol level, Bruising susceptibility, Pigmented micronodular adrenocorti... OMIM:610475
Short-Rib Thoracic Dysplasia 12
Wide intermamillary distance, Hamartoma of tongue, Neonatal death, Hypoplastic nipples, Ambiguous... OMIM:269860
Familial Adenomatous Polyposis 4
Thyroid adenoma, Gastric adenocarcinoma, Duodenal polyposis, Ovarian cyst, Astrocytoma, Breast in... OMIM:617100
Familial Adenomatous Polyposis
Stomach cancer, Hepatoblastoma, Brain neoplasm, Osteoma, Desmoid tumors, Angiofibromas, Neoplasm ... ORPHA:733
Alg9-Cdg
Hypertrichosis, Tricuspid regurgitation, Inverted nipples, Low posterior hairline, Hypoplastic ni... ORPHA:79328
Developmental And Epileptic Encephalopathy 51
Failure to thrive, Supernumerary nipple OMIM:617339
Yellow Nail Syndrome
Biliary tract neoplasm, Yellow nails, Neoplasm, Pulmonary arterial hypertension, Renal neoplasm, ... ORPHA:662
Trichohepatoneurodevelopmental Syndrome
Cholelithiasis, Thoracic hypertrichosis, Coarse hair, Exocrine pancreatic insufficiency, Long eye... OMIM:618268
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating luteinizing hormone level, Abnormal female external genitalia morphology, De... ORPHA:95699
Neurofibromatosis Type 1
Neoplasm of the skin, Cryptorchidism, Multiple lipomas, Leukemia, Sarcoma, Precocious puberty, Pl... ORPHA:636
47,Xyy Syndrome
Varicocele, Azoospermia, Cryptorchidism, Micropenis, Increased serum testosterone level, Oligozoo... ORPHA:8
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin-resistant diabetes mellitus, Hirsutism, Enlarged polycystic ovaries, Polycystic ovaries, ... ORPHA:90301
Czeizel-Losonci Syndrome
Hypoplastic nipples, Wide intermamillary distance ORPHA:2437
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Fine hair, Supernumerary nipple, Cryptorchidism, Hypothyroidism, Hypohidrosis, Aplasia/Hypoplasia... ORPHA:1812
Opsoclonus-Myoclonus Syndrome
Small cell lung carcinoma, Ovarian teratoma, Neoplasm, Melanoma, Neuroblastoma, Neoplasm of the l... ORPHA:1183
Pseudohypoparathyroidism Type 1A
Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Decrease... ORPHA:79443
Mccune-Albright Syndrome
Increased circulating cortisol level, Increased circulating prolactin concentration, Decreased fe... ORPHA:562
Attenuated Familial Adenomatous Polyposis
Thyroid adenoma, Duodenal polyposis, Astrocytoma, Large intestinal polyposis, Papilloma, Fibroma,... ORPHA:220460
Rapp-Hodgkin Syndrome
Sparse hair, Sparse eyebrow, Decreased number of sweat glands, Fine hair, Supernumerary nipple, P... OMIM:129400
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Female infertility, Failure to thrive OMIM:619518
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... OMIM:300946
21Q22.11Q22.12 Microdeletion Syndrome
Failure to thrive in infancy, Hypoplastic nipples, Nail dystrophy ORPHA:261323
Congenital Factor X Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h... ORPHA:328
Cowden-Like syndrome
Endometrial carcinoma, Papillary thyroid carcinoma, Breast carcinoma, Uterine leiomyoma OMIM:612359
Bainbridge-Ropers Syndrome
Precocious puberty, Highly arched eyebrow, Failure to thrive, Supernumerary nipple, Thin eyebrow,... OMIM:615485
Large Congenital Melanocytic Nevus
Neoplasm of the skin, Cutaneous melanoma, Neoplasm, Generalized hirsutism, Sarcoma, Rhabdomyosarcoma ORPHA:626
2Q37 Microdeletion Syndrome
Highly arched eyebrow, Sparse eyebrow, Wide intermamillary distance, Supernumerary nipple, Obesit... ORPHA:1001
Afibrinogenemia, Congenital
Gingival bleeding, Epistaxis, Abnormal bleeding, Subdural hemorrhage, Bruising susceptibility, Pr... OMIM:202400
Monosomy 9Q22.3
Large for gestational age, Medulloblastoma, Cardiac fibroma, Nephroblastoma, Ovarian fibroma, Odo... ORPHA:77301
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Supernumerary nipple, Sparse body hair, Nail dystrophy, Sparse eyelashes, Absent eyelashes, Patch... OMIM:106260
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Ovarian cyst, Hirsutism, Enlarged polycystic ovaries, Increased serum t... ORPHA:64739
Glucocorticoid Resistance, Generalized
Irregular menstruation, Increased circulating cortisol level, Increased circulating ACTH level, I... OMIM:615962
Cornelia De Lange Syndrome
Highly arched eyebrow, Failure to thrive, Abnormality of the uterus, Long eyelashes, Curly eyelas... ORPHA:199
Cornelia De Lange Syndrome 1
Highly arched eyebrow, Hypoplastic male external genitalia, Long eyelashes, Curly eyelashes, Cryp... OMIM:122470
Parathyroid Carcinoma
Elevated circulating parathyroid hormone level, Renal hamartoma, Parathyroid carcinoma, Shortened... ORPHA:143
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Pulmonic stenosis, Dys... ORPHA:3109
Tuberous Sclerosis 2
Precocious puberty, Chordoma, Cortical tubers, Cardiac rhabdomyoma, Ependymoma, Pulmonary lymphan... OMIM:613254
Testicular Agenesis
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Decreased serum testostero... ORPHA:325124
Kleefstra Syndrome
Highly arched eyebrow, Supernumerary nipple, Obesity, Cryptorchidism, Arrhythmia, Micropenis, Hyp... ORPHA:261494
Monosomy 22
Gonadal neoplasm, Meningioma, Schwannoma, Aplasia of the thymus, Hyperhidrosis, Micropenis, Sarco... ORPHA:96123
Dermatofibrosarcoma Protuberans
Neoplasm of the skin, Fibrosarcoma ORPHA:31112
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating luteinizing hormone level, Type I diabetes mellitus, Sparse pubic hair, Brea... ORPHA:3044
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Frontal balding, Increased c... ORPHA:786
Liposarcoma
Sarcoma, Weight loss ORPHA:69078
Turner Syndrome Due To Structural X Chromosome Anomalies
Aplasia/Hypoplasia of the nipples, Hyperinsulinemia, Type II diabetes mellitus, Inverted nipples,... ORPHA:99413
Turner Syndrome
Aplasia/Hypoplasia of the nipples, Hyperinsulinemia, Type II diabetes mellitus, Inverted nipples,... ORPHA:881
Mosaic Monosomy X
Aplasia/Hypoplasia of the nipples, Hyperinsulinemia, Type II diabetes mellitus, Inverted nipples,... ORPHA:99228
Monosomy X
Aplasia/Hypoplasia of the nipples, Hyperinsulinemia, Type II diabetes mellitus, Inverted nipples,... ORPHA:99226
Multiple Pterygium Syndrome, Escobar Variant
Exostosis of the external auditory canal, Cryptorchidism, Hypoplastic nipples, Absence of labia m... OMIM:265000
Pituitary Deficiency Due To Rathke Cleft Cysts
Secondary growth hormone deficiency, Adrenocorticotropin deficient adrenal insufficiency, Increas... ORPHA:91350
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Decreased testicular size, Hypogonadism, Obesity, Hirsutism, Hypertensi... OMIM:209900
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Sparse hair, Highly arched eyebrow, Sparse lateral eyebrow, Fine hair, Large for gestational age,... OMIM:280000
Peutz-Jeghers Syndrome
Gastrointestinal carcinoma, Uterine neoplasm, Intestinal bleeding, Gynecomastia, Ovarian cyst, Mu... OMIM:175200
Bohring-Opitz Syndrome
Wide intermamillary distance, Failure to thrive, Supernumerary nipple, Hypertrichosis, Low anteri... OMIM:605039
Chromosome 1Q41-Q42 Deletion Syndrome
Sparse eyebrow, Cryptorchidism, Supernumerary nipple OMIM:612530
Postaxial Acrofacial Dysostosis
Supernumerary nipple ORPHA:246
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Abnormality of the men... ORPHA:90308
Trisomy 12P
Thick eyebrow, Supernumerary nipple ORPHA:1699
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Aplasia/Hypoplasia of the nipples, Sparse eyebrow, Supernumerary nipple, Abnormal reproductive sy... ORPHA:1521
Ring Chromosome 12 Syndrome
Dystrophic toenail, Glandular hypospadias, Breast hypoplasia, Cryptorchidism, Hirsutism, Hemangio... ORPHA:1439
Gapo Syndrome
Alopecia, Sparse eyebrow, Breast hypoplasia, Sparse eyelashes, Hypoplastic nipples, Sparse hair OMIM:230740
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features
Highly arched eyebrow, Supernumerary nipple, Cryptorchidism, Chordee, Synophrys OMIM:616728
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Sparse eyebrow, High anterior hairline, Supernumerary nipple, Thick eyebrow, Inverted nipples, Sy... OMIM:620098
Hyperparathyroidism-Jaw Tumor Syndrome
Elevated circulating parathyroid hormone level, Renal hamartoma, Shortened QT interval, Pancreati... ORPHA:99880
Char Syndrome
Supernumerary nipple ORPHA:46627
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Supernumerary nipple OMIM:614376
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia OMIM:618849
Methemoglobinemia And Ambiguous Genitalia
Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased circulating dehydroepian... OMIM:250790
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Pituitary adenoma, Hashimoto thyroiditis, Renal angiomyolipoma, Hypothyroidi... OMIM:610755
Milroy Disease
Neoplasm of the skin, Hydrocele testis, Angiosarcoma ORPHA:79452
Retinoblastoma
Pineoblastoma, Glioma, Lymphoma, Hyphema, Subretinal pigment epithelium hemorrhage, Ewing sarcoma... ORPHA:790
African Trypanosomiasis
Alopecia, Second degree atrioventricular block, Third degree atrioventricular block, Congestive h... ORPHA:3385
Hereditary Leiomyomatosis And Renal Cell Cancer
Cutaneous leiomyoma, Cutaneous leiomyosarcoma, Renal cell carcinoma, Multiple cutaneous leiomyoma... OMIM:150800
Acromesomelic Dysplasia, Grebe Type
Sarcoma, Death in infancy ORPHA:2098
Johanson-Blizzard Syndrome
Clitoral hypertrophy, Small for gestational age, Dilated cardiomyopathy, Failure to thrive, Fair ... OMIM:243800
Wiskott-Aldrich Syndrome
Gingival bleeding, Acute leukemia, Arrhythmia, Purpura, Vasculitis, Hematochezia, Spontaneous hem... ORPHA:906
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Supernumerary nipple OMIM:616579
Hb Bart'S Hydrops Fetalis
Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Highly arched eyebrow, Wide intermamillary distance, Supernumerary nipple, Decreased response to ... OMIM:213980
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Sparse lateral eyebrow, Abnormal female external genitalia morphology, Aplasia of t... OMIM:277000
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Sparse eyebrow, High anterior hairline, Supernumerary nipple, Hypertrichosis, Cryptorchidism, Cho... ORPHA:477993
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Pallister-Hall Syndrome
Small scrotum, Hydrometrocolpos, Hypopituitarism, Central adrenal insufficiency, Cryptorchidism, ... ORPHA:672
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Uterine neoplasm, Failure to thrive, Vaginal neoplasm, Diffuse leiomyomatosis, Vulvar neoplasm, E... ORPHA:1018
Familial Adenomatous Polyposis 1
Adrenocortical adenoma, Fibroadenoma of the breast, Adenomatous colonic polyposis, Duodenal adeno... OMIM:175100
Carpenter Syndrome 2
Highly arched eyebrow, Sparse eyebrow, Wide intermamillary distance, Bilateral cryptorchidism, Su... OMIM:614976
Paraneoplastic Pemphigus
Thymoma, B-cell lymphoma, Sarcoma ORPHA:63455
Desmoid Tumor
Neoplasm of the skin, Gastrointestinal hemorrhage, Intestinal polyposis, Fibroma, Desmoid tumors ORPHA:873
Vertebral Hypersegmentation And Orofacial Anomalies
Widow's peak, Supernumerary nipple OMIM:619122
Bannayan-Riley-Ruvalcaba Syndrome
Uterine neoplasm, Lymphoma, Capillary hemangioma, Meningioma, Subcutaneous hemorrhage, Thyroid ca... ORPHA:109
Pitt-Hopkins Syndrome
Sparse medial eyebrow, Supernumerary nipple, Frontal upsweep of hair, Cryptorchidism, Micropenis OMIM:610954
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Highly arched eyebrow, Supernumerary nipple, Obesity, Cryptorchidism, Micropenis, Heart murmur OMIM:618653
Hereditary Methemoglobinemia
Methemoglobinemia, Athetosis ORPHA:621
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Wide intermamillary distance, Hypertrophic cardiomyopathy, External genital hypoplasia, Large for... ORPHA:96334
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hypothyroidism, Mitral regurgitation, Fibroma, Hypertrichosis OMIM:619750
Incontinentia Pigmenti
Alopecia, Verrucae, Dystrophic toenail, Supernumerary nipple, Abnormal hair morphology, Congestiv... ORPHA:464
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Neoplasm of the colon, Esophageal neoplasm, Neoplasm of the small in... ORPHA:44890
Teratoma, Ovarian
Ovarian teratoma OMIM:166950
Nmda Receptor Encephalitis
Testicular teratoma, Ovarian teratoma, Neoplasm of the thymus, Hodgkin lymphoma, Orthostatic hypo... ORPHA:217253
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Wide intermamillary distance, Dilated third ventricle, Failure to thrive, Supernumerary nipple, H... ORPHA:397715
Postaxial Acrofacial Dysostosis
Micropenis, Cryptorchidism, Supernumerary nipple OMIM:263750
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Clitoral hypertrophy, Decreased testicular size, External genital hypoplasia, Gynecomastia, Nail ... OMIM:610644
Grfoma
Increased circulating cortisol level, Increased circulating prolactin concentration, Weight loss,... ORPHA:97261
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Irregular menstruation, Congestive heart failure, Neonatal death, Pulmonary arterial hypertension... OMIM:616482
Au-Kline Syndrome
Wide intermamillary distance, Sparse lateral eyebrow, Failure to thrive, Supernumerary nipple, In... OMIM:616580
Trichothiodystrophy 6, Nonphotosensitive
Increased HbA2 hemoglobin, Broad-based gait, Decreased mean corpuscular volume OMIM:616943
Pitt-Hopkins Syndrome
Failure to thrive, Supernumerary nipple, Cryptorchidism, Hodgkin lymphoma, Micropenis ORPHA:2896
Hyperphosphatasia-Intellectual Disability Syndrome
Telangiectasia, Highly arched eyebrow, Supernumerary nipple ORPHA:247262
Ppoma
Cholelithiasis, Intestinal carcinoid, Pituitary adenoma, Adrenocortical adenoma, Increased circul... ORPHA:97278
Developmental Delay With Or Without Dysmorphic Facies And Autism
Small scrotum, Highly arched eyebrow, Microphallus, Supernumerary nipple, Cryptorchidism, Pulmona... OMIM:618454
Simpson-Golabi-Behmel Syndrome
Cardiomyopathy, Supernumerary nipple, Bundle branch block, Neoplasm, Cryptorchidism, Nephroblasto... ORPHA:373
Hypoplasminogenemia
Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis ORPHA:722
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Truncal ataxia, Broad-based gait, Limb ataxia, Persistence of hemoglobin F OMIM:617101
Ablepharon-Macrostomia Syndrome
Absent eyelashes, Hypoplastic labia majora, Ambiguous genitalia, Hypoplastic nipples, Absent eyeb... OMIM:200110
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythroid hyperpla... ORPHA:231222
3Mc Syndrome
Highly arched eyebrow, Bilateral cryptorchidism, Supernumerary nipple ORPHA:293843
Retinoblastoma
Pinealoma, Lymphoma, Ewing sarcoma, Retinoblastoma, Vitreous hemorrhage, Leukemia, Osteosarcoma OMIM:180200
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Supernumerary nipple ORPHA:457279
Crimean-Congo Hemorrhagic Fever
Gingival bleeding, Tachycardia, Purpura, Epididymitis, Diffuse alveolar hemorrhage, Bundle branch... ORPHA:99827
Focal Dermal Hypoplasia
Supernumerary nipple, Laryngeal papilloma, Cryptorchidism, Nail dystrophy, Telangiectasia, Hypopl... OMIM:305600
Mesomelic Dysplasia, Savarirayan Type
Supernumerary nipple OMIM:605274
Inhalational Anthrax
Abnormal sweat gland morphology, Hypotension, Internal hemorrhage ORPHA:247257
Somatostatinoma
Gastrointestinal hemorrhage, Pituitary adenoma, Adrenocortical adenoma, Increased circulating pro... ORPHA:97283
Tuberous Sclerosis Complex
Pituitary adenoma, Ungual fibroma, Pheochromocytoma, Cardiac rhabdomyoma, Retinal astrocytic hama... ORPHA:805
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Failure to thrive, Bilateral cryptorchidism, Supernumerary nipple, Slender build, Tricuspid regur... ORPHA:466791
Vipoma
Follicular thyroid carcinoma, Pituitary adenoma, Adrenocortical adenoma, Increased circulating pr... ORPHA:97282
Terminal Osseous Dysplasia
Fibroma OMIM:300244
Adams-Oliver Syndrome 1
Aortic valve stenosis, Imperforate hymen, Alopecia, Supernumerary nipple, Pulmonary arterial hype... OMIM:100300
Primary Ciliary Dyskinesia
Abnormal sperm motility, Female infertility, Male infertility ORPHA:244
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Histiocytoma, Bruising susceptibility, Premature graying of hair, Fibrosarcoma, Osteosarcoma OMIM:112250
Oculoectodermal Syndrome
Hypertrophic cardiomyopathy, Transient ischemic attack, Pineal cyst, Supernumerary nipple OMIM:600268
Ziegler-Huang Syndrome
Neutropenia, Macrocytic anemia, Persistence of hemoglobin F OMIM:620501
Acquired Purpura Fulminans
Macular purpura, Shock, Neoplasm, Internal hemorrhage, Prolonged prothrombin time, Intracranial h... ORPHA:49566
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
High anterior hairline, Capillary hemangioma, Cryptorchidism, Supernumerary nipple OMIM:619194
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F OMIM:612561
Leiomyoma, Uterine
Uterine leiomyoma OMIM:150699
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Cryptorchidism, Anteriorly displaced genitalia, Hypoplastic nipples, Aplasia of th... OMIM:276820
Lymphedema-Distichiasis Syndrome
Distichiasis, Diabetes mellitus, Arrhythmia, Fibrosarcoma ORPHA:33001
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231226
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Cardiomyopathy, Hypertrichosis, Neoplasm, Curly hair, Hypoplastic nipples, Delayed puberty, Abnor... ORPHA:480880
Chromosome 13Q14 Deletion Syndrome
Micropenis, Retinoblastoma, Cryptorchidism, Supernumerary nipple OMIM:613884
Interstitial Cystitis
Abnormality of the menstrual cycle, Abnormal labia morphology, Dyspareunia, Abnormal vagina morph... ORPHA:37202
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231214
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Sparse eyebrow, Coarse hair, Dystrophic toenail, Supernumerary nipple, Sparse eyelashes, Dystroph... ORPHA:1071
Cancer-Associated Retinopathy
Small cell lung carcinoma, Thymoma, Uterine neoplasm, Cutaneous melanoma, Pancreatic adenocarcino... ORPHA:71505
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Supernumerary nipple, Inverted nipples, Cryptorchidism, Hypothyroidism, Hyperhidrosis ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Supernumerary nipple, Inverted nipples, Cryptorchidism, Hypothyroidism, Hyperhidrosis ORPHA:352665
Oliver Syndrome
Thick eyebrow, Supernumerary nipple ORPHA:2920
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Cephalohematoma, Ectopic anterior pituitary gland OMIM:620558
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Supernumerary nipple ORPHA:1236
Malakoplakia
Abnormal bleeding, Abnormality of the menstrual cycle, Neoplasm of the colon, Orchitis, Neoplasm ... ORPHA:556
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Small scrotum, Clitoral hypertrophy, Decreased circulating dehydroepiandrosterone concentration, ... OMIM:201750
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, HbH hemoglobin ORPHA:98791
3Mc Syndrome 1
Conjunctival telangiectasia, Highly arched eyebrow, Synophrys, Supernumerary nipple OMIM:257920
Aicardi Syndrome
Precocious puberty, Dilated third ventricle, Sparse lateral eyebrow, Metastatic angiosarcoma, Ter... OMIM:304050
Igg4-Related Thyroid Disease
Graves disease, Euthyroid goiter, Goiter, Sialadenitis, Hashimoto thyroiditis, Hypothyroidism, Pa... ORPHA:64744
Duplication Of The Pituitary Gland
Decreased body weight, Abnormal hypothalamus morphology, Teratoma, Abnormal pituitary gland morph... ORPHA:314621
Basal Cell Nevus Syndrome 2
Neurofibroma, Meningioma, Medulloblastoma, Angiofibromas, Basal cell carcinoma OMIM:620343
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Simpson-Golabi-Behmel Syndrome, Type 1
Wide intermamillary distance, Short nail, Cardiomyopathy, Supernumerary nipple, Hypertrichosis, E... OMIM:312870
Marburg Hemorrhagic Fever
Hypotension, Subconjunctival hemorrhage, Abnormal bleeding, Bruising susceptibility, Shock, Exces... ORPHA:99826
Lead Poisoning
Imbalanced hemoglobin synthesis, Increased LDL cholesterol concentration, Abnormal T cell morphol... ORPHA:330015
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Bone Marrow Failure Syndrome 3
Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, Ac... OMIM:617052
Hemorrhagic Fever-Renal Syndrome
Epistaxis, Hypotension, Subconjunctival hemorrhage, Shock, Palpitations, Petechiae, Decreased bod... ORPHA:340
Branchiooculofacial Syndrome
Hypospadias, Wide intermamillary distance, Supernumerary nipple, Premature graying of hair, Ectop... OMIM:113620
Pallister-Killian Syndrome
Aortic valve stenosis, Small scrotum, Sparse eyebrow, Alopecia, Supernumerary nipple, Sparse ante... OMIM:601803
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropenia, Thrombocytopenia,... OMIM:260400
Thymoma
Leukemia, Pure red cell aplasia, Aplastic anemia, Imbalanced hemoglobin synthesis ORPHA:99867
Mowat-Wilson Syndrome
Bifid scrotum, Supernumerary nipple, Cryptorchidism, Broad eyebrow, Hypospadias, Pulmonic stenosis OMIM:235730
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Meige Disease
Angiosarcoma ORPHA:90186
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Abnormal hemoglobin ORPHA:847
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:301040
Yellow Fever
Abnormal bleeding, Pancreatic hyperplasia, Shock, Reduced left ventricular ejection fraction, Exc... ORPHA:99829
Diamond-Blackfan Anemia 1
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:105650
Hellp Syndrome
Hypotension, Increased body weight, Internal hemorrhage, Prolonged prothrombin time, Cerebral hem... ORPHA:244242
Superficial Siderosis
Abnormal bleeding, Subarachnoid hemorrhage, Persistent bleeding after trauma, Internal hemorrhage... ORPHA:247245
Vascular Ehlers-Danlos Syndrome
Alopecia, Abnormal bleeding, Uterine rupture, Bruising susceptibility, Transient ischemic attack,... ORPHA:286
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Ossifying fibroma, Hypertrophic cardiomyopathy, Schwannoma, Mitral regurgitation, Lisch nodules, ... ORPHA:363700
Alkaptonuria
Methemoglobinemia, Hemolytic anemia ORPHA:56

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 Lats1

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 Lats1.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Skeletal muscle phenotyping of Hippo gene-mutated mice reveals that Lats1 deletion increases the percentage of type I muscle fibers. Transgenic research (January 2022) Lats1em1(IMPC)H PMC8993742

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MGI Allele Allele Type Produced
Lats1em1(IMPC)H Exon Deletion Mice
Lats1em2(IMPC)H Exon Deletion Mice

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