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Gene: Lats1 MGI:1333883

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Gene Summary

Name:
large tumor suppressor
Synonyms:
N/A

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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
decreased hemoglobin content Lats1em1(IMPC)H HOM Early adult 1.37×10-06
decreased grip strength Lats1em1(IMPC)H HET   Early adult 1.31×10-06
increased circulating alanine transaminase level Lats1em1(IMPC)H HOM Early adult 1.98×10-05
decreased locomotor activity Lats1em1(IMPC)H HOM   Early adult 2.26×10-08
decreased prepulse inhibition Lats1em1(IMPC)H HOM   Early adult 1.45×10-05
increased grip strength Lats1em1(IMPC)H HOM Early adult 3.48×10-09

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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
Testicular microlithiasis, Abnormal spermatogenesis, Secondary amenorrhea, Decreased circulating ... OMIM:228300
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Azoo... OMIM:614837
Premature Ovarian Failure 8
Decreased serum estradiol, Premature ovarian insufficiency, Elevated circulating follicle stimula... OMIM:615723
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... OMIM:616030
Pituitary Hormone Deficiency, Combined, 2
Hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hypogonadism, A... OMIM:262600
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin ORPHA:231249
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Kallmann Syndrome With Spastic Paraplegia
Decreased circulating follicle stimulating hormone concentration, Hypothalamic gonadotropin-relea... OMIM:308750
Hyperprolactinemia
Increased circulating prolactin concentration, Galactorrhea, Female infertility, Menorrhagia, Oli... OMIM:615555
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... OMIM:614897
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Hypo... OMIM:308700
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... OMIM:614842
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal spermatogenesis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, A... ORPHA:488191
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Breast carcinoma, Colorectal polyposis, Bladder carcinoma, Prostate ca... ORPHA:157798
Maffucci Syndrome
Breast carcinoma, Astrocytoma, Parathyroid adenoma, Neoplasm of the parathyroid gland, Neoplasm o... ORPHA:163634
Delayed Puberty, Self-Limited
Decreased circulating follicle stimulating hormone concentration, Delayed puberty, Decreased seru... OMIM:619613
Hereditary Breast And Ovarian Cancer Syndrome
Breast carcinoma, Abnormal fallopian tube morphology, Prostate cancer, Neoplasm of the pancreas, ... ORPHA:145
Post-Traumatic Pituitary Deficiency
Hypotension, Abnormality of secondary sexual hair, Decreased response to growth hormone stimulati... ORPHA:95619
Gonadoblastoma
Ambiguous genitalia, Increased serum testosterone level, Gonadal dysgenesis with female appearanc... ORPHA:206484
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Alopecia, Decreased circulating follicle stimulating hormone concentratio... ORPHA:453533
Functioning Gonadotropic Adenoma
Impotence, Anterior hypopituitarism, Decreased female libido, Increased circulating gonadotropin ... ORPHA:91348
Thyroid Cancer, Nonmedullary, 4
Prostate cancer, Basal cell carcinoma, Papillary thyroid carcinoma, Goiter, Ovarian neoplasm OMIM:616534
46,Xy Partial Gonadal Dysgenesis
Gonadoblastoma, Ambiguous genitalia, Adrenal insufficiency, Increased circulating gonadotropin le... ORPHA:251510
Ring Chromosome Y Syndrome
Gonadoblastoma, Ambiguous genitalia, Ambiguous genitalia, female, Unilateral cryptorchidism, Abno... ORPHA:261529
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s... OMIM:614839
Werner Syndrome
Premature graying of hair, Abnormal testis morphology, Melanoma, White forelock, Neoplasm, Abnorm... ORPHA:902
Li-Fraumeni Syndrome
Acute myeloid leukemia, Neoplasm of the gastrointestinal tract, Neoplasm of the central nervous s... ORPHA:524
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Decreased circulating luteinizing hormone level, Congenital adrenal hypoplasia, Micropenis, Crypt... OMIM:202150
Ovarian Cancer
Breast carcinoma, Ovarian papillary adenocarcinoma, Dysgerminoma OMIM:167000
Ovarian Fibrothecoma
Fibrosarcoma, Increased serum testosterone level, Diffuse leiomyomatosis, Abnormal circulating ho... ORPHA:314478
Breast-Ovarian Cancer, Familial, Susceptibility To, 2
Breast carcinoma, Ovarian neoplasm OMIM:612555
Breast-Ovarian Cancer, Familial, Susceptibility To, 1
Breast carcinoma, Ovarian neoplasm OMIM:604370
Schöpf-Schulz-Passarge Syndrome
Alopecia, Aplasia/Hypoplasia of the eyebrow, Facial telangiectasia, Squamous cell carcinoma, Basa... ORPHA:50944
Breast-Ovarian Cancer, Familial, Susceptibility To, 3
Breast carcinoma, Ovarian carcinoma OMIM:613399
Premature Ovarian Failure 6
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... OMIM:612310
Spermatogenic Failure 14
Azoospermia, Late spermatogenesis maturation arrest, Abnormal prolactin level, Male infertility, ... OMIM:615842
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Decreased circulating follicle stimulating hormone concentration, Delayed puberty, Cryptorchidism... OMIM:619761
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Decreased fertility, Absence of secondary sex characteristics, Anterior hypopituitarism, Hypothal... ORPHA:2235
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Weight loss, Fine hair, Hypopigmentation of hair, Neoplasm of the re... ORPHA:2221
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 2
Absent nipple, Hypoplastic areola, Male urethral meatus stenosis, Cryptorchidism, Hypoplastic nip... OMIM:616001
Premature Ovarian Failure 13
Female infertility, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Amen... OMIM:617442
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Decreased testicu... OMIM:229070
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Hamartoma, Visceral angiomatosis, Congestive heart failure, Neoplasm of the thyroid gland, Lympha... ORPHA:137608
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Meningioma
Enlarged pituitary gland, Impotence, Spinal meningioma, Decreased circulating cortisol level, Neo... ORPHA:2495
Non-Functioning Pituitary Adenoma
Hypotension, Impotence, Anterior hypopituitarism, Decreased female libido, Adrenal insufficiency,... ORPHA:91349
Peripheral Primitive Neuroectodermal Tumor
Precocious puberty, Weight loss, Neoplasm of the pancreas, Spinal cord tumor, Abnormal bleeding, ... ORPHA:370348
Carney Complex
Precocious puberty, Esophageal neoplasm, Neoplasm of the pancreas, Cutaneous myxoma, Hepatocellul... ORPHA:1359
Subependymoma
Neoplasm of the lung, Ependymoma, Neoplasm of the liver, Spinal cord tumor, Supratentorial neopla... ORPHA:251639
Ependymoma
Neoplasm of the lung, Ependymoma, Neoplasm of the liver, Spinal cord tumor, Supratentorial neopla... ORPHA:251636
Hypogonadotropic Hypogonadism 27 Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Reduced response to gonadotropi... OMIM:619755
Lynch Syndrome
Pancreatic adenocarcinoma, Benign neoplasm of the central nervous system, Urinary tract neoplasm,... ORPHA:144
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Irregular menstruation, Alopecia, Precocious puberty, Goiter, Hyperthyroidism, Abnormal testis mo... ORPHA:457059
Familial Colorectal Cancer Type X
Pancreatic adenocarcinoma, Benign neoplasm of the central nervous system, Stomach cancer, Urinary... ORPHA:440437
Rhabdomyosarcoma, Embryonal, 2
Nephroblastoma, Pleuropulmonary blastoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Ovaria... OMIM:180295
Familial Hyperprolactinemia
Female hypogonadism, Hemorrhagic ovarian cyst, Infertility, Galactorrhea, Menorrhagia, Oligomenor... ORPHA:397685
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Wide intermamillary distance, Abnormality of the ovary, Hypogonadism ORPHA:1875
Bdv Syndrome
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin... OMIM:619326
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility, Miscarriage OMIM:619176
Ovarian Dysgenesis 3
Aplasia of the ovary, Female infertility, Delayed puberty, Elevated circulating luteinizing hormo... OMIM:614324
Androgen Insensitivity Syndrome
Sparse axillary hair, Labial hypoplasia, Sparse pubic hair, Absent facial hair, Elevated circulat... OMIM:300068
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility, Reduced circulating prolactin concentration OMIM:264110
Desmoplastic Small Round Cell Tumor
Neoplasm of the central nervous system, Weight loss, Neoplasm of the lung, Sarcoma, Neoplasm of t... ORPHA:83469
Spermatogenic Failure, X-Linked, 4
Azoospermia, Abnormal prolactin level, Male infertility, Elevated circulating luteinizing hormone... OMIM:301077
Frasier Syndrome
Male pseudohermaphroditism, Gonadal dysgenesis, Ovarian gonadoblastoma, Primary amenorrhea OMIM:136680
Pituicytoma
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... ORPHA:251623
46,Xy Sex Reversal 6
Gonadoblastoma, Dysgerminoma, Sex reversal, Sparse axillary hair, Hypospadias, Hirsutism, Gonadal... OMIM:613762
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased circulating follicle stimulating hormone concentration, Anterior pituitary hypoplasia, ... ORPHA:226307
Spermatogenic Failure 77
Azoospermia, Oligospermia, Male infertility, Abnormal circulating testosterone concentration, Abn... OMIM:620103
Familial Multinodular Goiter
Pilomatrixoma, Pleuropulmonary blastoma, Cerebellar medulloblastoma, Hyperthyroidism, Colorectal ... ORPHA:276399
Pituitary Hormone Deficiency, Combined, 6
Decreased circulating follicle stimulating hormone concentration, Decreased circulating ACTH leve... OMIM:613986
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Female infertility, Delayed puberty, Primary amenorrhea OMIM:300604
Limb-Mammary Syndrome
Alopecia, Sparse eyebrow, Hypohidrosis, Aplasia of the ovary, Absent nipple, Breast aplasia, Apla... ORPHA:69085
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
Premature Ovarian Failure 7
Secondary amenorrhea, Premature ovarian insufficiency, Absent pubic hair, Elevated circulating lu... OMIM:612964
Ovarian Dysgenesis 9
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube... OMIM:619665
Oocyte/Zygote/Embryo Maturation Arrest 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... ORPHA:90793
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadoblastoma, Abnormality of female external genitalia, Decreased serum estradiol, Infertility,... ORPHA:168563
Fanconi Anemia, Complementation Group S
Breast carcinoma, Long eyelashes, Failure to thrive, Ovarian carcinoma, Sparse hair, Low anterior... OMIM:617883
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum estradiol, Decreased testicular size, Decreased serum testosterone concentration,... OMIM:614841
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Gonadal dysgenesis, Primary amenorrhea OMIM:233300
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... OMIM:603902
46,Xy Sex Reversal 11
Primary amenorrhea, Urogenital sinus anomaly, Abnormal internal genitalia, Aplasia of the uterus,... OMIM:273250
Leydig Cell Hypoplasia
Ambiguous genitalia, Breast aplasia, Increased circulating gonadotropin level, Primary amenorrhea... ORPHA:755
Complete Androgen Insensitivity Syndrome
Abnormal uterine cervix morphology, Absent pubic hair, Blind vagina, Primary amenorrhea, Testicul... ORPHA:99429
Cowden Syndrome 1
Breast carcinoma, Hypothyroidism, Hyperthyroidism, Gynecomastia, Thyroiditis, Fibroadenoma of the... OMIM:158350
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Abnormal circul... OMIM:616950
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Muir-Torre Syndrome
Breast carcinoma, Adenoma sebaceum, Duodenal adenocarcinoma, Malignant genitourinary tract tumor,... OMIM:158320
Ovarian Fibromata
Ovarian fibroma OMIM:166970
Premature Ovarian Failure 20
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:619938
Ovarian Dysgenesis 10
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated cir... OMIM:619834
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Premature Ovarian Failure 18
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ... OMIM:619203
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Hypogonadism, Hypoplastic areola, Arrhythmia, Hypoplastic nipples, Sparse hair OMIM:273400
Panhypophysitis
Gonadotropin deficiency, Impotence, Decreased female libido, Decreased circulating cortisol level... ORPHA:95513
Ectopic Aldosterone-Producing Tumor
Glucocortocoid-insensitive primary hyperaldosteronism, Ovarian neoplasm, Decreased circulating re... ORPHA:231632
46,Xy Sex Reversal 7
Abnormal epididymis morphology, Gonadoblastoma, Gonadal dysgenesis, male, Sex reversal, Hypoplasi... OMIM:233420
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... ORPHA:2133
Oocyte/Zygote/Embryo Maturation Arrest 4
Female infertility, Oocyte arrest at metaphase I OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Gangliocytoma
Hyperhidrosis, Adrenocorticotropic hormone excess, Impotence, Neoplasm of the central nervous sys... ORPHA:251937
Adenohypophysitis
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def... ORPHA:95512
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Abnormal spermatogenesis, Decreased testicular size, Azoospermia, Non-obstructive azoospermia, In... ORPHA:399805
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea OMIM:619245
Cerebellar Ataxia-Hypogonadism Syndrome
Decreased fertility, Hypogonadism, Supernumerary nipple, Hypogonadotropic hypogonadism, Abnormali... ORPHA:1173
Sheehan Syndrome
Gonadotropin deficiency, Impotence, Decreased female libido, Decreased circulating cortisol level... ORPHA:91355
Delta-Beta-Thalassemia
Anemia, Abnormal hemoglobin, Microcytic anemia ORPHA:231237
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:231242
46,Xy Sex Reversal 10
Gonadoblastoma, Ambiguous genitalia, Sex reversal, Bifid scrotum, Decreased testicular size, Hypo... OMIM:616425
Hypergonadotropic Hypogonadism-Cataract Syndrome
Decreased fertility, Absence of secondary sex characteristics, Increased circulating gonadotropin... ORPHA:2410
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Sparse body hair, Sparse scalp hair, Sparse lateral eyebrow, Absent eyelashes, Anhidrosis, Absent... OMIM:614941
Spermatogenic Failure 2
Azoospermia, Non-obstructive azoospermia, Oligospermia, Male infertility, Abnormal circulating te... OMIM:108420
46,Xy Sex Reversal 1
Gonadoblastoma, Ambiguous genitalia, Abnormality of female external genitalia, Sex reversal, Abse... OMIM:400044
46,Xx Gonadal Dysgenesis
Primary amenorrhea, Abnormality of secondary sexual hair, Decreased fertility, Ambiguous genitali... ORPHA:243
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Chromosome Xq27.3-Q28 Duplication Syndrome
Sparse body hair, Hypogonadism, Decreased testicular size, Small for gestational age, Decreased s... OMIM:300869
Non-Acquired Panhypopituitarism
Hypotension, Abnormality of secondary sexual hair, Anterior pituitary hypoplasia, Decreased respo... ORPHA:90695
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Ane Syndrome
Alopecia, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, A... ORPHA:157954
Partial Androgen Insensitivity Syndrome
Ambiguous genitalia, Male sexual dysfunction, Blind vagina, Primary amenorrhea, Increased circula... ORPHA:90797
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Obesity, Reduced circulating prolactin concentration OMIM:264120
Hypothyroidism, Central, With Testicular Enlargement
Hypothyroidism, Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Inapprop... OMIM:300888
Ovarian Dysgenesis 5
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Primary amenorrhea, El... OMIM:617690
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Premature Ovarian Failure 10
Hypothyroidism, Decreased testicular size, Premature ovarian insufficiency, Azoospermia, Hypoplas... OMIM:612885
Frasier Syndrome
Nephroblastoma, Gonadoblastoma, Decreased serum estradiol, Ambiguous genitalia, male, Hypertensio... ORPHA:347
Asherman Syndrome
Decreased fertility in females, Secondary amenorrhea, Infertility, Abnormality of the menstrual c... ORPHA:137686
Li-Fraumeni Syndrome 2
Stomach cancer, Breast carcinoma, Sarcoma, Meningioma, Glioma OMIM:609265
Premature Ovarian Failure 1
Irregular menstruation, Increased circulating gonadotropin level, Premature ovarian insufficiency OMIM:311360
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Absent hair, Hypohidrosis, Brittle hair, Anhidrosis, Absent nipple, Sparse hair OMIM:614940
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Perrault Syndrome 4
Primary amenorrhea, Decreased serum estradiol, Secondary amenorrhea, Premature ovarian insufficie... OMIM:615300
Adult Syndrome
Sparse scalp hair, Fair hair, Wide intermamillary distance, Sparse axillary hair, Absent nipple, ... OMIM:103285
Lynch Syndrome 5
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the pancreas, Endometrial carcinoma, Ov... OMIM:614350
Pituitary Apoplexy
Hypotension, Increased circulating prolactin concentration, Decreased response to growth hormone ... ORPHA:95613
Li-Fraumeni Syndrome
Nephroblastoma, Breast carcinoma, Prostate cancer, Adrenocortical carcinoma, Choriocarcinoma, Neo... OMIM:151623
Premature Ovarian Failure 9
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating luteinizing hormon... OMIM:615724
Hyperostosis Frontalis Interna
Irregular menstruation, Increased circulating prolactin concentration, Galactorrhea, Diabetes mel... OMIM:144800
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Abnormal circulating corticosterone level, Primary amenorrhea, Hypoplasia of the uterus, Sparse b... ORPHA:90796
46,Xx Testicular Disorder Of Sex Development
Decreased testicular size, Polycystic ovaries, Ambiguous genitalia, Male hypogonadism ORPHA:393
Adult Syndrome
Alopecia, Sparse scalp hair, Absent nipple, Fine hair, Hypoplastic nipples, Breast hypoplasia ORPHA:978
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Sarcoma, Squamous cell carcinom... OMIM:606719
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
Lynch Syndrome 4
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Ovarian neoplasm OMIM:614337
Tetraamelia Syndrome 2
Absent nipple, Micropenis OMIM:618021
Ovarian Dysgenesis 4
Elevated circulating follicle stimulating hormone level, Decreased body weight, Decreased serum e... OMIM:616185
Müllerian Aplasia And Hyperandrogenism
High anterior hairline, Increased serum testosterone level, Synophrys, Abnormality of the ovary, ... ORPHA:247768
X-Linked Intellectual Disability, Van Esch Type
Absence of secondary sex characteristics, Decreased testicular size, Type II diabetes mellitus, D... ORPHA:163976
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Abnormal circulating hormone co... ORPHA:280356
Perrault Syndrome 3
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:614129
Ollier Disease
Precocious puberty, Chondrosarcoma, Sarcoma, Multiple enchondromatosis, Visceral angiomatosis, He... ORPHA:296
Ovarian Fibroma
Odontogenic keratocysts of the jaw, Gonadal calcification, Abnormality of the ovary, Basal cell c... ORPHA:314473
Neuroendocrine Neoplasm Of Appendix
Ileal adenocarcinoma, Hypotension, Adrenocorticotropic hormone excess, Adenocarcinoma of the colo... ORPHA:100079
Hypogonadism-Cataract Syndrome
Male hypogonadism, Elevated circulating follicle stimulating hormone level, Infertility, Hypogona... OMIM:240950
Isolated Follicle Stimulating Hormone Deficiency
Female hypogonadism, Gonadotropin deficiency, Decreased serum estradiol, Decreased testicular siz... ORPHA:52901
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Primary amenorrhea, Decreased testicular size, Sparse axillary hair, Infertility, Sparse pubic ha... OMIM:146110
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Breast carcinoma, Weight loss, Neoplasm of the liver, Melanoma, Diabet... ORPHA:1333
Spermatogenic Failure 28
Decreased testicular size, Decreased serum testosterone concentration, Male infertility, Elevated... OMIM:618086
Barber-Say Syndrome
Inverted nipples, Sparse eyebrow, Absent nipple, Hypoplastic labia majora, Hypoplastic labia mino... OMIM:209885
Ulnar-Mammary Syndrome
Decreased fertility, Hypoplasia of penis, Breast aplasia, Obesity, Abnormality of the uterus, Arr... ORPHA:3138
Pituitary Adenoma 1, Multiple Types
Irregular menstruation, Increased circulating prolactin concentration, Pituitary adenoma, Prolact... OMIM:102200
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular s... ORPHA:399808
Lhermitte-Duclos Disease
Neoplasm of the thyroid gland, Trichilemmoma, Fibroadenoma of the breast, Ovarian neoplasm ORPHA:65285
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Diethylstilbestrol Syndrome
Decreased fertility in females, Breast carcinoma, Abnormal testis morphology, Premature ovarian i... ORPHA:1916
Atypical Werner Syndrome
Decreased body weight, Abnormal testis morphology, Premature graying of hair, Neoplasm of the ski... ORPHA:79474
Premature Ovarian Failure 17
Decreased serum estradiol, Premature ovarian insufficiency, Elevated circulating luteinizing horm... OMIM:619146
Hidrotic Ectodermal Dysplasia, Halal Type
Sparse body hair, Irregular menstruation, Sparse scalp hair, Absent eyelashes, Supernumerary nipp... ORPHA:1809
Progressive Osseous Heteroplasia
Sarcoma, Abnormality of the parathyroid gland ORPHA:2762
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 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
Fontaine Progeroid Syndrome
Pulmonary arterial hypertension, Sparse scalp hair, Neonatal death, Death in infancy, Small for g... OMIM:612289
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility OMIM:617996
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Hirsutism, Oligomenorrhea, Obesity, Amenorrhea OMIM:184700
Ovarian Dysgenesis 8
Hypoplastic labia majora, Eunuchoid habitus, Elevated circulating luteinizing hormone level, Prim... OMIM:618187
Acrorenal-Mandibular Syndrome
Unicornuate uterus, Bicornuate uterus, Absent nipple, Abnormality of the breast, Uterus didelphys OMIM:200980
Denys-Drash Syndrome
Nephroblastoma, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Ambiguous... OMIM:194080
49,Xxxyy Syndrome
Primary gonadal insufficiency, Ambiguous genitalia, Abnormality of the testis size, Decreased tes... ORPHA:261534
Spermatogenic Failure 75
Early spermatogenesis maturation arrest, Elevated circulating follicle stimulating hormone level,... OMIM:619949
X-Linked Intellectual Disability, Cilliers Type
Absence of secondary sex characteristics, Decreased testicular size, Decreased serum testosterone... ORPHA:163971
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Sparse body hair, Sparse eyebrow, Hypohidrosis, Brittle hair, Absent eyelashes, Anhidrosis, Absen... OMIM:305100
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Thrombocytopenia, Abnormal hemoglobin ORPHA:3319
Estrogen Resistance Syndrome
Hyperinsulinemia, Abnormality of the pubic hair, Enlarged polycystic ovaries, Absence of secondar... ORPHA:785
Premature Ovarian Failure 15
Irregular menstruation, Secondary amenorrhea, Decreased cirrculating antimullerian hormone circul... OMIM:618096
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Polycystic ovaries, Hirsutism, Menorrhagia, Oligomenorrhea, Abnormality... ORPHA:2795
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Premature ovarian insufficiency, Sparse pubic hair, Increased circulating... OMIM:110100
Obesity Due To Congenital Leptin Deficiency
Orthostatic hypotension due to autonomic dysfunction, Hyperinsulinemia, Decreased serum estradiol... ORPHA:66628
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hypotension, Increased circulating prolactin concentration, Precocious puberty, Decreased respons... ORPHA:91354
Aromatase Deficiency
Enlarged polycystic ovaries, Ambiguous genitalia, female, Type II diabetes mellitus, Eunuchoid ha... ORPHA:91
Xp22.3 Microdeletion Syndrome
Decreased fertility, Polycystic ovaries, Hypogonadotropic hypogonadism, Secondary amenorrhea ORPHA:1643
Cortisone Reductase Deficiency 1
Alopecia, Precocious puberty, Infertility, Hirsutism, Oligomenorrhea, Obesity OMIM:604931
Tumor Predisposition Syndrome 2
Acute myeloid leukemia, Ductal carcinoma in situ, Juvenile type ovarian granulosa cell tumor, Sch... OMIM:619975
Polyembryoma
Irregular menstruation, Macroorchidism, Isosexual precocious puberty, Increased serum testosteron... ORPHA:180229
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Impotence, Small pituitary gland, Increased circulating gonadotropin level, Primary amenorrhea, P... ORPHA:2232
Ovarian Dysgenesis 2
Secondary amenorrhea, Premature ovarian insufficiency, Delayed puberty, Hirsutism, Hypergonadotro... OMIM:300510
Premature Ovarian Failure 16
Premature ovarian insufficiency, Elevated circulating follicle stimulating hormone level, Reduced... OMIM:618723
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio OMIM:300448
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Hypothyroidism, Anterior pituitary hypoplasia, Decreased circulating free T4 concentration, Reduc... OMIM:613038
Obesity Due To Leptin Receptor Gene Deficiency
Orthostatic hypotension due to autonomic dysfunction, Hyperinsulinemia, Decreased serum estradiol... ORPHA:179494
Combined Pituitary Hormone Deficiencies, Genetic Forms
Hypotension, Abnormality of secondary sexual hair, Anterior pituitary hypoplasia, Decreased respo... ORPHA:95494
Congenital Factor Vii Deficiency
Post-partum hemorrhage, Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Gingival ble... ORPHA:327
Satoyoshi Syndrome
Abnormality of the ovary, Alopecia universalis, Abnormality of the uterus, Hypoplasia of the ovar... ORPHA:3130
Hepatic Adenomas, Familial
Hepatocellular adenoma, Polycystic ovaries, Maturity-onset diabetes of the young OMIM:142330
Central Precocious Puberty
Abnormality of secondary sexual hair, Hypothalamic hamartoma, Isosexual precocious puberty, Prema... ORPHA:759
Ectodermal Dysplasia With Adrenal Cyst
Hypohidrosis, Hypoplastic nipples, Breast hypoplasia, Abnormality of the endocrine system OMIM:129550
Perrault Syndrome 1
Increased circulating gonadotropin level, Gonadal dysgenesis, Primary amenorrhea OMIM:233400
Reticulum Cell Sarcoma
Sarcoma, Neoplasm OMIM:267730
Prolactinoma
Hypotension, Impotence, Anterior hypopituitarism, Decreased female libido, Secondary growth hormo... ORPHA:2965
Resistance To Thyrotropin-Releasing Hormone Syndrome
Increased circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone c... ORPHA:99832
Perrault Syndrome 6
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea... OMIM:617565
Normosmic Congenital Hypogonadotropic Hypogonadism
Impotence, Wide intermamillary distance, Primary amenorrhea, Hypoplasia of the uterus, Sparse bod... ORPHA:432
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Absent nipple OMIM:104350
Premature Ovarian Failure 2A
Premature ovarian insufficiency, Elevated circulating follicle stimulating hormone level, Elevate... OMIM:300511
Legius Syndrome
Nephroblastoma, Multiple lipomas, Paroxysmal atrial tachycardia, Neoplasm of the central nervous ... ORPHA:137605
Martin-Probst Syndrome
Hypothyroidism, Telangiectasia, Bifid scrotum, Wide intermamillary distance, Cryptorchidism, Hypo... OMIM:300519
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Ambiguous genitalia, Precocious puberty, Premature thelarche, Ambiguous genitalia, female, Decrea... ORPHA:90795
Choroidal Atrophy-Alopecia Syndrome
Supernumerary nipple, Fine hair, Ungual fibroma, Sparse hair, Sparse or absent eyelashes ORPHA:1433
Scarf Syndrome
Perineal hypospadias, Bifid scrotum, Hepatocellular adenoma, Wide intermamillary distance, Crypto... ORPHA:3134
Estrogen Resistance
Increased serum estradiol, Hyperinsulinemia, Breast aplasia, Polycystic ovaries, Delayed puberty,... OMIM:615363
Steinert Myotonic Dystrophy
Impotence, Secondary hyperparathyroidism, Neoplasm of the skin, Ovarian carcinoma, Non-medullary ... ORPHA:273
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Female infertility, Goiter OMIM:617577
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Polycystic ovaries, Precocious puberty, Hypergonadotropic hypogonadism ORPHA:2229
Cyanosis, Transient Neonatal
Methemoglobinemia, Anemia, Reticulocytosis OMIM:613977
Rhabdoid Tumor
Neoplasm of the central nervous system, Weight loss, Sarcoma, Neoplasm of the liver, Hypertension... ORPHA:69077
Becker Nevus Syndrome
Abnormality of the scrotum, Hamartoma, Hypoplastic labia minora, Supernumerary nipple, Aplasia/Hy... ORPHA:64755
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno... ORPHA:98754
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome
Increased size of the clitoris, Ambiguous genitalia, female, Abnormality of the ovary, Abnormalit... ORPHA:2975
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma, Weight loss ORPHA:2023
Premature Ovarian Failure 5
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ovary, Reduced antral fo... OMIM:611548
Branchioskeletogenital Syndrome
Synophrys, Absent external genitalia, Absent nipple, Penoscrotal hypospadias, Highly arched eyebr... ORPHA:1299
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased fertility, Decreased circulating progesterone, Streak ovary, Decreased serum estradiol,... ORPHA:572333
Hypogonadotropic Hypogonadism 25 With Anosmia
Decreased serum estradiol, Hypothalamic gonadotropin-releasing hormone deficiency, Decreased seru... OMIM:618841
Ichthyosis With Confetti
Hypoplastic nipples, Decreased body weight, Hypertrichosis OMIM:609165
Premature Ovarian Failure 14
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:618014
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features
Hypoplastic female external genitalia, Hypospadias, Hypoplastic nipples OMIM:177980
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced haptoglobin level, Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated re... OMIM:613673
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Msh3-Related Attenuated Familial Adenomatous Polyposis
Papilloma, Stomach cancer, Astrocytoma, Colorectal polyposis, Multiple gastric polyps, Neoplasm o... ORPHA:480536
Intellectual Developmental Disorder, Autosomal Dominant 47
Small for gestational age, Thin eyebrow, Supernumerary nipple, Cryptorchidism OMIM:617635
Premature Ovarian Failure 11
Elevated circulating follicle stimulating hormone level, Oligomenorrhea, Secondary amenorrhea OMIM:616946
Infantile Myofibromatosis
Fibroma, Benign neoplasm of the central nervous system, Sarcoma, Neoplasm of the pancreas, Gingiv... ORPHA:2591
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... ORPHA:251380
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno... ORPHA:98793
49,Xyyyy Syndrome
Primary gonadal insufficiency, Abnormality of the testis size, Decreased testicular size, Externa... ORPHA:99330
46,Xy Sex Reversal 3
Ambiguous genitalia, Sex reversal, Penoscrotal hypospadias, Elevated circulating luteinizing horm... OMIM:612965
Pituitary Gigantism
Hyperhidrosis, Increased circulating prolactin concentration, Type II diabetes mellitus, Galactor... ORPHA:99725
Tsh-Secreting Pituitary Adenoma
Enlarged pituitary gland, Hypotension, Impotence, Decreased female libido, Ventricular arrhythmia... ORPHA:91347
Nipples, Supernumerary
Supernumerary nipple OMIM:163700
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno... ORPHA:177904
Pituitary Stalk Interruption Syndrome
Hypothyroidism, Diabetes insipidus, Death in infancy, Hypoplasia of penis, Ectopic posterior pitu... ORPHA:95496
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno... ORPHA:177901
Alpha-Thalassemia
Anemia, Hemolytic anemia, Hypersplenism, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:846
Acquired Ichthyosis
Lymphoma, Sarcoma, Multiple myeloma, Neoplasm ORPHA:454
Multiple Endocrine Neoplasia Type 4
Pituitary corticotropic cell adenoma, Parathyroid adenoma, Hyperinsulinemic hypoglycemia, Pituita... ORPHA:276152
Global Developmental Delay With Speech And Behavioral Abnormalities
Precocious puberty, Supernumerary nipple, Cryptorchidism OMIM:619243
Prader-Willi Syndrome
Central hypothyroidism, Precocious puberty, Hypoplastic labia majora, Small pituitary gland, Prim... ORPHA:739
Diamond-Blackfan Anemia 3
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Sickle Cell Anemia
Hemolytic anemia, Unconjugated hyperbilirubinemia, Increased mean corpuscular volume, Reticulocyt... ORPHA:232
Burkitt Lymphoma
Abnormality of the ovary, Gastrointestinal hemorrhage, Neoplasm of the oral cavity ORPHA:543
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hypotension, Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreas... ORPHA:168558
19Q13.11 Microdeletion Syndrome
Sparse lateral eyebrow, Bifid scrotum, Wide intermamillary distance, Cachexia, Supernumerary nipp... ORPHA:217346
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hypotension, Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreas... ORPHA:289548
Kallmann Syndrome
Primary amenorrhea, Decreased fertility, Anterior hypopituitarism, Decreased testicular size, Hyp... ORPHA:478
Nut Midline Carcinoma
Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Pancreatic squamous cell carcinom... ORPHA:443167
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Small pituitary gland, Delayed puberty, Cryptorchidism, Primary amenorrhea, Hypogonadotropic hypo... OMIM:612702
Prader-Willi-Like Syndrome
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno... ORPHA:398073
Basal Cell Nevus Syndrome 1
Hamartomatous stomach polyps, Medulloblastoma, Odontogenic keratocysts of the jaw, Cardiac rhabdo... OMIM:109400
Barber-Say Syndrome
Aplasia/Hypoplasia of the eyebrow, Shawl scrotum, Breast aplasia, Failure to thrive, Hypoplastic ... ORPHA:1231
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
46,Xy Complete Gonadal Dysgenesis
Testicular dysgenesis, Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism ORPHA:242
Orthostatic Hypotension 1
Orthostatic hypotension, Atrial fibrillation, Retrograde ejaculation, Reduced circulating prolact... OMIM:223360
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Subcutaneous hemorrhage, Decreased testicular size, Abnormal umbilical ... ORPHA:335
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hypotension, Ambiguous genitalia, Decreased circulating aldosterone level, Ambiguous genitalia, f... ORPHA:90794
Scarf Syndrome
Perineal hypospadias, Bifid scrotum, Wide intermamillary distance, Cryptorchidism, Low posterior ... OMIM:312830
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypothyroidism, Gonadoblastoma, Ambiguous genitalia, Ambiguous genitalia, female, Wide intermamil... ORPHA:1772
Apert Syndrome
Hypertension, Ovarian neoplasm ORPHA:87
46,Xx Ovotesticular Disorder Of Sex Development
Decreased fertility, Urogenital sinus anomaly, Ambiguous genitalia, Bifid scrotum, Abnormal male ... ORPHA:2138
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Decreased testicular size, Small pituitary gland, Cryptorchidism, Primary amenorrhea, Micropenis OMIM:614880
X-Linked Acrogigantism
Enlarged pituitary gland, Diabetes insipidus, Increased circulating prolactin concentration, Hype... ORPHA:300373
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Increased circulating prolactin concentration, Hypogonadism, Hyperpitui... ORPHA:91351
Hydatidiform Mole
Menometrorrhagia, Hyperthyroidism, Enlarged uterus, Miscarriage ORPHA:99927
Adrenocortical Carcinoma
Elevated serum 11-deoxycortisol, Increased serum estradiol, Hyperaldosteronism, Increased urinary... ORPHA:1501
Congenital Generalized Lipodystrophy
Precocious puberty in females, Hyperinsulinemia, Clitoral hypertrophy, Overgrowth of external gen... ORPHA:528
Lipodystrophy, Familial Partial, Type 3
Primary amenorrhea, Hyperinsulinemia, Type II diabetes mellitus, Maternal diabetes, Hypertension,... OMIM:604367
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Uterus didelphys, Metrorrhagia, Partial vaginal septum, Dyspareunia, Abnormal uterine cervix morp... ORPHA:3411
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Hypoplastic nipples, Hemangioma, Cryptorchidism OMIM:618505
Boucher-Neuhauser Syndrome
Hypogonadotropic hypogonadism, Decreased circulating gonadotropin concentration OMIM:215470
46,Xx Sex Reversal 1
Sex reversal, Bicornuate uterus, Clitoral hypertrophy, True hermaphroditism, Azoospermia, Hypospa... OMIM:400045
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia ORPHA:231401
Multiple Endocrine Neoplasia Type 1
Pituitary thyrotropic cell adenoma, Pituitary corticotropic cell adenoma, Impotence, Neoplasm of ... ORPHA:652
Tyshchenko Syndrome
Supernumerary nipple, Cryptorchidism, Pulmonic stenosis, Low anterior hairline, Thick hair OMIM:615102
Gardner Syndrome
Neoplasm of the pancreas, Hepatoblastoma, Esophageal carcinoma, Thyroid nodule, Papillary thyroid... ORPHA:79665
Lig4 Syndrome
Hypothyroidism, Telangiectasia, Myelodysplasia, Failure to thrive, Cryptorchidism, Micropenis, Am... OMIM:606593
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Pseudohypoparathyroidism Type 1C
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:79444
Limb-Mammary Syndrome
Hypohidrosis, Hypoplastic nipples OMIM:603543
Peroxisome Biogenesis Disorder 5A (Zellweger)
Death in infancy, Small for gestational age, Heart murmur, Aortic regurgitation, Failure to thriv... OMIM:614866
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Sparse eyebrow, Sparse scalp hair, Decreased response to growth hormone stimulation test, Fair ha... OMIM:604292
Ulnar-Mammary Syndrome
Inverted nipples, Anterior pituitary hypoplasia, Sparse lateral eyebrow, Imperforate hymen, Shawl... OMIM:181450
Gray Platelet Syndrome
Myelodysplasia, Abnormal bleeding, Abnormality of the menstrual cycle, Bruising susceptibility, E... ORPHA:721
Mgat2-Cdg
Inverted nipples, Reflex asystolic syncope, Long eyelashes, Abnormal bleeding, Abnormality of the... ORPHA:79329
Crouzon Syndrome
Dysgerminoma OMIM:123500
Proteus Syndrome
Sudden cardiac death, Neoplasm of the central nervous system, Retinal hamartoma, Hamartoma, Cache... ORPHA:744
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Synophrys, Supernumerary nipple, Cryptorchidism, Micropenis, Low posterior hairline, Interhypotha... OMIM:618929
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Sparse body hair, Absent eyelashes, Vaginal dryness, Supernumerary nipple, Hypospadias, Micropeni... OMIM:106260
Apc-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the pancreas, Esophageal carcinoma, Thyroid nodule, Papillary thyroid carcinoma, Brea... ORPHA:247806
47,Xyy Syndrome
Macroorchidism, Increased serum testosterone level, Azoospermia, Increased circulating gonadotrop... ORPHA:8
Schinzel-Giedion Midface Retraction Syndrome
Sacrococcygeal teratoma, Bicornuate uterus, Hypoplastic labia minora, Hypoplastic labia majora, H... OMIM:269150
Aromatase Deficiency
Ovarian cyst, Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:613546
Solitary Fibrous Tumor/Hemangiopericytoma
Neoplasm of the nervous system, Prostate cancer, Weight loss, Genital neoplasm, Neoplasm of the l... ORPHA:2126
2P15P16.1 Microdeletion Syndrome
Sparse eyebrow, Hypogonadism, Decreased testicular size, Wide intermamillary distance, Long eyela... ORPHA:261349
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Polycystic ovaries, Decreased adiponectin level, Insulin-resistant diabet... ORPHA:79085
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Sparse eyebrow, Sparse scalp hair, Decreased response to growth hormone stimulation test, Fair ha... OMIM:129900
Hereditary Leiomyomatosis And Renal Cell Cancer
Multiple cutaneous leiomyomas, Uterine leiomyosarcoma, Esophageal neoplasm, Vaginal neoplasm, Pap... ORPHA:523
Tetragametic Chimerism
Ambiguous genitalia, Abnormality of the scrotum, Abnormal testis morphology, Bifid scrotum, Perin... ORPHA:199310
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Alopecia, Hypospadias, Supernumerary nipple, Truncal obesity ORPHA:3224
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Pulmonary arterial hypertension, Supernumerary nipple, Cryptorchidism, Congenital hypothyroidism,... ORPHA:2519
Sialuria
Synophrys, Hirsutism, Low posterior hairline, Hypoplastic nipples, Generalized hirsutism OMIM:269921
Woods Syndrome
Frontal hirsutism, Supernumerary nipple OMIM:615236
Primary Pigmented Nodular Adrenocortical Disease
Cutaneous myxoma, Adrenal hyperplasia, Paradoxical increased cortisol secretion on dexamethasone ... ORPHA:189439
Cowden Syndrome
Fibroma, Neoplasm of the central nervous system, Melanoma, Neoplasm of the skin, Neoplasm of the ... ORPHA:201
Beta-Thalassemia
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Acces Syndrome
Failure to thrive, Sparse scalp hair, Supernumerary nipple OMIM:619959
Familial Supernumerary Nipples
Supernumerary nipple ORPHA:2456
Nablus Mask-Like Facial Syndrome
Sparse eyebrow, Frontal upsweep of hair, Wide intermamillary distance, Absent eyelashes, Labial h... OMIM:608156
Yunis-Varon Syndrome
Pulmonary arterial hypertension, Sparse eyebrow, Sparse scalp hair, Heart murmur, Small for gesta... OMIM:216340
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Increased serum testosterone level, Enlarged polycystic ovaries, Hypovo... ORPHA:64739
Congenital Factor V Deficiency
Persistent bleeding after trauma, Post-partum hemorrhage, Intracranial hemorrhage, Bruising susce... ORPHA:326
Pseudohypoparathyroidism Type 1A
Decreased response to growth hormone stimulation test, Hypertension, Reduced circulating prolacti... ORPHA:79443
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Pancreatic adenocarcinoma, Breast carcinoma, Seborrheic keratosis, Duodenal adenocarcinoma, Squam... ORPHA:454840
Precocious Puberty, Central, 1
Hypothyroidism, Elevated circulating follicle stimulating hormone level, Elevated circulating lut... OMIM:176400
Pituitary Carcinoma
Pituitary thyrotropic cell adenoma, Enlarged pituitary gland, Increased circulating prolactin con... ORPHA:300385
Blepharophimosis With Facial And Genital Anomalies And Mental Retardation
Dystrophic toenail, Shawl scrotum, Small for gestational age, Long eyelashes, Supernumerary nippl... OMIM:604314
Incontinentia Pigmenti
Atrophic, patchy alopecia, Alopecia, Retinal hemorrhage, Breast aplasia, Supernumerary nipple, Fi... OMIM:308300
Mast Cell Sarcoma
Sarcoma, Weight loss ORPHA:66661
Isolated Splenogonadal Fusion
Abnormal epididymis morphology, Abnormality of the scrotum, Testicular mass, Bilateral cryptorchi... ORPHA:457083
Skin Creases, Congenital Symmetric Circumferential, 1
Localized neuroblastoma, Wide intermamillary distance, Hypoplastic nipples OMIM:156610
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Synophrys, Supernumerary nipple OMIM:616083
Cidec-Related Familial Partial Lipodystrophy
Decreased serum leptin, Polycystic ovaries, Decreased adiponectin level, Insulin-resistant diabet... ORPHA:435651
Mullerian Aplasia And Hyperandrogenism
Increased circulating dehydroepiandrosterone-sulfate concentration, Abnormal external genitalia, ... OMIM:158330
Beta-Thalassemia
Anemia, Abnormality of iron homeostasis, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly, Mic... ORPHA:848
Familial Adenomatous Polyposis
Fibroma, Hypothyroidism, Adenocarcinoma of the small intestine, Neoplasm of the gastrointestinal ... ORPHA:733
Van Maldergem Syndrome 2
High anterior hairline, Bifid scrotum, Hypospadias, Cryptorchidism, Hypoplastic nipples, Micropenis OMIM:615546
Short-Rib Thoracic Dysplasia 12
Ambiguous genitalia, Wide intermamillary distance, Hypoplastic nipples, Neonatal death, Hamartoma... OMIM:269860
Alg9-Cdg
Inverted nipples, Bicornuate uterus, Hypoplasia of the ovary, Low posterior hairline, Hypoplastic... ORPHA:79328
Filippi Syndrome
Supernumerary nipple, Cryptorchidism ORPHA:3255
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Myelodysplasia, Supernumerary nipple, Micropenis, Cryptorchidism, Highly arched eyebrow, Leukemia OMIM:619951
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Polycystic ovaries, Hirsutism, Insulin-resistant diabetes mellitus, ... ORPHA:90301
Trichohepatoneurodevelopmental Syndrome
Hypothyroidism, Recurrent pancreatitis, Curly hair, Decreased body weight, Synophrys, Long eyelas... OMIM:618268
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Decreased testicular size, Breast aplasia, Sparse pubic hair, Eunuchoid habitus, Type I diabetes ... ORPHA:3044
Developmental And Epileptic Encephalopathy 51
Failure to thrive, Supernumerary nipple OMIM:617339
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Irregular menstruation, Alopecia, Hyperaldosteronism, Increased circulating cortisol level, Macro... ORPHA:189427
Yellow Nail Syndrome
Pulmonary arterial hypertension, Yellow nails, Sarcoma, Biliary tract neoplasm, Renal neoplasm, N... ORPHA:662
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Fibroma, Neoplasm of the stomach, Astrocytoma, Papilloma, Adenocarcinoma of t... ORPHA:220460
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypothyroidism, Hypohidrosis, Aplasia/Hypoplasia of the eyebrow, Hypoplasia of penis, Supernumera... ORPHA:1812
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Ambiguous genitalia, Decreased circulating dehydroepiandrosterone-sulfate concentration, Decrease... ORPHA:95699
Testicular Agenesis
Urogenital sinus anomaly, Ambiguous genitalia, Absent external genitalia, Urethrovaginal fistula,... ORPHA:325124
Pigmented Nodular Adrenocortical Disease, Primary, 2
Increased circulating cortisol level, Decreased circulating ACTH level, Hypertension, Pigmented m... OMIM:610475
Czeizel-Losonci Syndrome
Wide intermamillary distance, Hypoplastic nipples ORPHA:2437
Mccune-Albright Syndrome
Precocious puberty, Abnormal testis morphology, Cutaneous myxoma, Hyperplasia of the Leydig cells... ORPHA:562
Opsoclonus-Myoclonus Syndrome
Breast carcinoma, Melanoma, Small cell lung carcinoma, Neoplasm, Ovarian teratoma, Neuroblastoma,... ORPHA:1183
Rapp-Hodgkin Syndrome
Sparse eyebrow, Hypohidrosis, Hypoplastic labia majora, Supernumerary nipple, Fine hair, Decrease... OMIM:129400
Cowden-Like syndrome
Breast carcinoma, Uterine leiomyoma, Papillary thyroid carcinoma, Endometrial carcinoma OMIM:612359
Intellectual Developmental Disorder, Autosomal Recessive 65
Hypospadias, Supernumerary nipple, Cryptorchidism OMIM:618109
Methemoglobinemia And Ambiguous Genitalia
Scrotal hypospadias, Ambiguous genitalia, Decreased circulating dehydroepiandrosterone-sulfate co... OMIM:250790
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Low-set nipples, Acute lymphoblastic leukemia, Large for gestational age, Fine hair, Hypoplastic ... OMIM:280000
Congenital Factor X Deficiency
Subarachnoid hemorrhage, Hemoperitoneum, Post-partum hemorrhage, Antepartum hemorrhage, Abnormal ... ORPHA:328
Bainbridge-Ropers Syndrome
Precocious puberty, Death in infancy, Synophrys, Thin eyebrow, Long eyelashes, Supernumerary nipp... OMIM:615485
Johanson-Blizzard Syndrome
Hypothyroidism, Sparse scalp hair, Fair hair, Frontal upsweep of hair, Small for gestational age,... OMIM:243800
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Failure to thrive, Female infertility OMIM:619518
Primary Lipodystrophy
Type II diabetes mellitus, Angina pectoris, Congestive heart failure, Hypertension, Polycystic ov... ORPHA:90970
21Q22.11Q22.12 Microdeletion Syndrome
Hypoplastic nipples, Failure to thrive in infancy, Nail dystrophy ORPHA:261323
Afibrinogenemia, Congenital
Death in infancy, Epidural hemorrhage, Abnormal umbilical stump bleeding, Abnormal bleeding, Brui... OMIM:202400
Neurofibromatosis Type 1
Spinal neurofibromas, Multiple lipomas, Precocious puberty, Astrocytoma, Neoplasm of the gastroin... ORPHA:636
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Macrocytic anemia... OMIM:300946
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Diabetes insipidus, Increased circulating prolactin concentration, Ante... ORPHA:91350
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Fibroma, Nephroblastoma, Uterine leiomyoma, Weight loss, Thyroid carci... ORPHA:143
Large Congenital Melanocytic Nevus
Sarcoma, Neoplasm of the skin, Neoplasm, Cutaneous melanoma, Generalized hirsutism, Rhabdomyosarcoma ORPHA:626
Monosomy 9Q22.3
Nephroblastoma, Medulloblastoma, Odontogenic keratocysts of the jaw, Basal cell carcinoma, Large ... ORPHA:77301
Acromesomelic Dysplasia 3
Elevated circulating luteinizing hormone level, Hypergonadotropic hypogonadism, Primary amenorrhe... OMIM:609441
Cornelia De Lange Syndrome 1
Synophrys, Long eyelashes, Hypoplastic labia majora, Hypospadias, Hirsutism, Cryptorchidism, Hypo... OMIM:122470
Generalized Glucocorticoid Resistance Syndrome
Ambiguous genitalia, Precocious puberty, Decreased circulating aldosterone level, Increased circu... ORPHA:786
2Q37 Microdeletion Syndrome
Nephroblastoma, Sparse eyebrow, Sparse scalp hair, Wide intermamillary distance, Supernumerary ni... ORPHA:1001
Woodhouse-Sakati Syndrome
Abnormal T-wave, Alopecia, Elevated circulating thyroid-stimulating hormone concentration, Decrea... OMIM:241080
Tuberous Sclerosis 2
Hypothyroidism, Precocious puberty, Astrocytoma, Chordoma, Adenoma sebaceum, Cardiac rhabdomyoma,... OMIM:613254
Cornelia De Lange Syndrome
Primary amenorrhea, Synophrys, Long eyelashes, Hypoplasia of penis, Hypoplastic labia majora, Thi... ORPHA:199
Familial Adenomatous Polyposis 4
Duodenal polyposis, Gastric adenocarcinoma, Astrocytoma, Ovarian cyst, Uterine leiomyoma, Adenoma... OMIM:617100
Dermatofibrosarcoma Protuberans
Fibrosarcoma, Neoplasm of the skin ORPHA:31112
Myotonic Dystrophy 2
Right bundle branch block, Hypogonadism, Type II diabetes mellitus, Oligospermia, Frontal balding... OMIM:602668
Kleefstra Syndrome
Synophrys, Hypoplasia of penis, Supernumerary nipple, Arrhythmia, Hypospadias, Cryptorchidism, Ob... ORPHA:261494
African Trypanosomiasis
Alopecia, Myocarditis, Third degree atrioventricular block, Impotence, Weight loss, Abnormality o... ORPHA:3385
Multiple Pterygium Syndrome, Escobar Variant
Exostosis of the external auditory canal, Absence of labia majora, Hypospadias, Cryptorchidism, H... OMIM:265000
Grfoma
Parathyroid adenoma, Neoplasm of the pancreas, Increased circulating gonadotropin level, Weight l... ORPHA:97261
Liposarcoma
Sarcoma, Weight loss ORPHA:69078
Monosomy 22
Hyperhidrosis, Sarcoma, Synophrys, Gonadal neoplasm, Schwannoma, Meningioma, Aplasia of the thymu... ORPHA:96123
Klippel-Trénaunay Syndrome
Pulmonary embolism, Abnormality of the menstrual cycle, Congestive heart failure, Internal hemorr... ORPHA:90308
Turner Syndrome Due To Structural X Chromosome Anomalies
Gonadoblastoma, Wide intermamillary distance, Melanoma, Increased circulating gonadotropin level,... ORPHA:99413
Turner Syndrome
Gonadoblastoma, Wide intermamillary distance, Melanoma, Increased circulating gonadotropin level,... ORPHA:881
Mosaic Monosomy X
Gonadoblastoma, Wide intermamillary distance, Melanoma, Increased circulating gonadotropin level,... ORPHA:99228
Monosomy X
Gonadoblastoma, Wide intermamillary distance, Melanoma, Increased circulating gonadotropin level,... ORPHA:99226
Bohring-Opitz Syndrome
Wide intermamillary distance, Supernumerary nipple, Failure to thrive, Hirsutism, Facial hemangio... OMIM:605039
Chromosome 1Q41-Q42 Deletion Syndrome
Sparse eyebrow, Supernumerary nipple, Cryptorchidism OMIM:612530
Woodhouse-Sakati Syndrome
Abnormal T-wave, Alopecia, Hypothyroidism, Aplasia/Hypoplasia of the eyebrow, Decreased response ... ORPHA:3464
Postaxial Acrofacial Dysostosis
Supernumerary nipple ORPHA:246
Peutz-Jeghers Syndrome
Breast carcinoma, Uterine neoplasm, Gastrointestinal carcinoma, Neoplasm of the pancreas, Multipl... OMIM:175200
Ppoma
Increased circulating prolactin concentration, Parathyroid adenoma, Weight loss, Increased circul... ORPHA:97278
Trisomy 12P
Thick eyebrow, Supernumerary nipple ORPHA:1699
Bardet-Biedl Syndrome 1
Hypogonadism, Decreased testicular size, Abnormality of the ovary, Hypertension, Diabetes mellitu... OMIM:209900
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Sparse eyebrow, Aplasia/Hypoplasia of the nipples, Supernumerary nipple, Bifid uterus, Abnormal r... ORPHA:1521
Pallister-Hall Syndrome
Ambiguous genitalia, Precocious puberty, Gonadotropin deficiency, Hydrometrocolpos, Thyroid hypop... ORPHA:672
Gapo Syndrome
Alopecia, Sparse eyebrow, Sparse eyelashes, Hypoplastic nipples, Sparse hair, Breast hypoplasia OMIM:230740
Ring Chromosome 12 Syndrome
Dystrophic toenail, Hypothyroidism, Small for gestational age, Hemangioma, Hirsutism, Cryptorchid... ORPHA:1439
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Inverted nipples, High anterior hairline, Sparse eyebrow, Synophrys, Supernumerary nipple, Thick ... OMIM:620098
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Fibroma, Nephroblastoma, Uterine leiomyoma, Parathyroid adenoma, Thyro... ORPHA:99880
Culler-Jones Syndrome
Diabetes insipidus, Anterior pituitary hypoplasia, Hypogonadism, Hypopituitarism, Ectopic posteri... OMIM:615849
Aarskog-Scott Syndrome
Shawl scrotum, Widow's peak, Bilateral cryptorchidism, Decreased serum testosterone concentration... OMIM:305400
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features
Synophrys, Supernumerary nipple, Cryptorchidism, Highly arched eyebrow, Chordee OMIM:616728
Bone Marrow Failure Syndrome 6
Anemia, Lymphopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia OMIM:618849
Vipoma
Increased circulating prolactin concentration, Parathyroid adenoma, Weight loss, Increased circul... ORPHA:97282
Multiple Endocrine Neoplasia, Type Iv
Hypothyroidism, Parathyroid adenoma, Renal angiomyolipoma, Pancreatic endocrine tumor, Pituitary ... OMIM:610755
Char Syndrome
Supernumerary nipple ORPHA:46627
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Supernumerary nipple OMIM:614376
Milroy Disease
Angiosarcoma, Hydrocele testis, Neoplasm of the skin ORPHA:79452
Acromesomelic Dysplasia, Grebe Type
Sarcoma, Death in infancy ORPHA:2098
Retinoblastoma
Lymphoma, Retinoblastoma, Vitreous hemorrhage, Leiomyosarcoma, Hyphema, Melanoma, Ewing sarcoma, ... ORPHA:790
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Supernumerary nipple OMIM:616579
Wiskott-Aldrich Syndrome
Sudden cardiac death, Hypoplasia of the thymus, Neoplasm, Prolonged bleeding time, Hematemesis, P... ORPHA:906
Somatostatinoma
Increased circulating prolactin concentration, Parathyroid adenoma, Weight loss, Increased circul... ORPHA:97283
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Familial Adenomatous Polyposis 1
Fibroma, Multiple lipomas, Medulloblastoma, Astrocytoma, Duodenal polyposis, Odontoma, Adrenocort... OMIM:175100
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Decreased response to growth hormone stimulation test, Shawl scrotum, Synophrys, Wide intermamill... OMIM:213980
Hereditary Leiomyomatosis And Renal Cell Cancer
Multiple cutaneous leiomyomas, Uterine leiomyosarcoma, Renal cell carcinoma, Cutaneous leiomyosar... OMIM:150800
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
High anterior hairline, Sparse eyebrow, Sparse scalp hair, Synophrys, Supernumerary nipple, Hypos... ORPHA:477993
Carpenter Syndrome 2
Sparse eyebrow, Shawl scrotum, Wide intermamillary distance, Bilateral cryptorchidism, Supernumer... OMIM:614976
Mastocytosis
Hypotension, Sarcoma, Telangiectasia of the skin, Gastrointestinal hemorrhage, Arrhythmia, Acute ... ORPHA:98292
Nelson Syndrome
Diabetes insipidus, Increased circulating prolactin concentration, Pituitary corticotropic cell a... ORPHA:199244
Paraneoplastic Pemphigus
Thymoma, Sarcoma, B-cell lymphoma ORPHA:63455
Pitt-Hopkins Syndrome
Frontal upsweep of hair, Supernumerary nipple, Sparse medial eyebrow, Cryptorchidism, Micropenis OMIM:610954
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Fibroma, Tracheobronchial leiomyomatosis, Weight loss, Diffuse leiomyomatosis, Esophageal neoplas... ORPHA:1018
Bannayan-Riley-Ruvalcaba Syndrome
Lymphoma, Telangiectasia, Neoplasm of the adrenal cortex, Thyroid carcinoma, Subcutaneous hemorrh... ORPHA:109
Interstitial Cystitis
Abnormality of the menstrual cycle, Abnormal labia morphology, Dyspareunia, Abnormality of the ur... ORPHA:37202
Hereditary Methemoglobinemia
Methemoglobinemia, Athetosis ORPHA:621
Desmoid Tumor
Fibroma, Neoplasm of the skin, Intestinal polyposis, Gastrointestinal hemorrhage, Desmoid tumors ORPHA:873
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Inverted nipples, Pulmonary arterial hypertension, External genital hypoplasia, Wide intermamilla... ORPHA:96334
46,Xy Sex Reversal 5
Elevated circulating follicle stimulating hormone level, Sex reversal OMIM:613080
Vertebral Hypersegmentation And Orofacial Anomalies
Widow's peak, Supernumerary nipple OMIM:619122
Teratoma, Ovarian
Ovarian teratoma OMIM:166950
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Fibroma, Hypothyroidism, Mitral regurgitation, Hypertrichosis OMIM:619750
Postaxial Acrofacial Dysostosis
Micropenis, Supernumerary nipple, Cryptorchidism OMIM:263750
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Heart murmur, Supernumerary nipple, Cryptorchidism, Obesity, Highly arched eyebrow, Micropenis OMIM:618653
Gastrointestinal Stromal Tumor
Neoplasm of the stomach, Neoplasm of the gastrointestinal tract, Sarcoma, Neoplasm of the rectum,... ORPHA:44890
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Ambiguous genitalia, Decreased testicular size, External genital hypoplasia, Clitoral hypertrophy... OMIM:610644
Incontinentia Pigmenti
Pulmonary arterial hypertension, Dystrophic toenail, Alopecia, Retinal hemorrhage, Hyperhidrosis,... ORPHA:464
Nmda Receptor Encephalitis
Neoplasm of the thymus, Neuroblastoma, Orthostatic hypotension, Ovarian teratoma, Hodgkin lymphom... ORPHA:217253
Primary Familial Polycythemia
Abnormal hemoglobin, Polycythemia ORPHA:90042
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Dilated third ventricle, Wide intermamillary distance, Supernumerary nipple, Failure to thrive, H... ORPHA:397715
Au-Kline Syndrome
Inverted nipples, Sparse lateral eyebrow, Wide intermamillary distance, Supernumerary nipple, Hyp... OMIM:616580
Hyperphosphatasia-Intellectual Disability Syndrome
Telangiectasia, Highly arched eyebrow, Supernumerary nipple ORPHA:247262
Simpson-Golabi-Behmel Syndrome
Nephroblastoma, Death in infancy, Bundle branch block, Hypoplasia of penis, Supernumerary nipple,... ORPHA:373
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Irregular menstruation, Pulmonary arterial hypertension, Congestive heart failure, Uterine leiomy... OMIM:616482
Beta-Thalassemia Intermedia
Abnormality of iron homeostasis, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Erythro... ORPHA:231222
Hypoplasminogenemia
Abnormal fallopian tube morphology, Abnormality of the ovary, Cervicitis ORPHA:722
Pitt-Hopkins Syndrome
Supernumerary nipple, Failure to thrive, Cryptorchidism, Hodgkin lymphoma, Micropenis ORPHA:2896
3Mc Syndrome
Bilateral cryptorchidism, Highly arched eyebrow, Supernumerary nipple ORPHA:293843
Ablepharon-Macrostomia Syndrome
Ambiguous genitalia, Absent eyelashes, Hypoplastic labia majora, Absent eyebrow, Hypoplastic nipp... OMIM:200110
Developmental Delay With Or Without Dysmorphic Facies And Autism
Pulmonary arterial hypertension, Small scrotum, Microphallus, Supernumerary nipple, Cryptorchidis... OMIM:618454
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Truncal ataxia, Limb ataxia, Broad-based gait, Persistence of hemoglobin F OMIM:617101
Crimean-Congo Hemorrhagic Fever
Hypotension, Hemoperitoneum, Adrenal insufficiency, Tachycardia, Abnormal left ventricular functi... ORPHA:99827
Retinoblastoma
Lymphoma, Retinoblastoma, Vitreous hemorrhage, Pinealoma, Ewing sarcoma, Osteosarcoma, Leukemia OMIM:180200
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome