Gene Summary

Name:
large tumor suppressor
Synonyms:
N/A

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
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
decreased grip strength Lats1em1(IMPC)H HET   Early adult 1.31×10-06
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

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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
Delayed puberty, Azoospermia, Secondary amenorrhea, Testicular microlithiasis, Decreased circulat... OMIM:228300
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Azoospermia, Decreased circulating follicle stimulating hormone concent... OMIM:614837
Premature Ovarian Failure 8
Premature ovarian insufficiency, Ovarian neoplasm, Elevated circulating follicle stimulating horm... OMIM:615723
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:616030
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Kallmann Syndrome With Spastic Paraplegia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:308750
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Decreas... OMIM:262600
Hyperprolactinemia
Galactorrhea, Agalactia, Oligomenorrhea, Menorrhagia, Female infertility, Increased circulating p... OMIM:615555
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:614897
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:308700
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome
Decreased thyroid-stimulating hormone level, Decreased circulating follicle stimulating hormone c... OMIM:620651
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:614842
Serrated Polyposis Syndrome
Ovarian neoplasm, Pancreatic adenocarcinoma, Germ cell neoplasia, Colorectal polyposis, Breast ca... ORPHA:157798
Post-Traumatic Pituitary Deficiency
Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes... ORPHA:95619
Maffucci Syndrome
Neoplasm of the parathyroid gland, Hemangiomatosis, Ovarian neoplasm, Neoplasm of the adrenal cor... ORPHA:163634
Delayed Puberty, Self-Limited
Delayed puberty, Decreased circulating follicle stimulating hormone concentration, Decreased circ... OMIM:619613
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Increased serum testosterone level,... ORPHA:206484
Hereditary Breast And/Or Ovarian Cancer Syndrome
Neoplasm of the pancreas, Ovarian neoplasm, Abnormal fallopian tube morphology, Primary peritonea... ORPHA:145
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... ORPHA:453533
Functioning Gonadotropic Adenoma
Delayed puberty, Impotence, Ovarian cyst, Decreased female libido, Decreased response to growth h... ORPHA:91348
Thyroid Cancer, Nonmedullary, 4
Basal cell carcinoma, Ovarian neoplasm, Papillary thyroid carcinoma, Prostate cancer, Goiter OMIM:616534
Werner Syndrome
Premature graying of hair, Miscarriage, Hypertension, White forelock, Abnormal hair whorl, Hypogo... ORPHA:902
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Absence of secondary sex characteristics, Testicular gonadoblastoma, Abnormal la... ORPHA:251510
Li-Fraumeni Syndrome
Rhabdomyosarcoma, Neoplasm of the pancreas, Neoplasm of the larynx, Choriocarcinoma, Hodgkin lymp... ORPHA:524
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Abnormal spermatogenesis, Bifid scrotum, Abnormali... ORPHA:261529
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:614839
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Decreased circulating luteinizing hormone level, Cryptorchidism, Micropenis, Congenital adrenal h... OMIM:202150
Ovarian Cancer
Dysgerminoma, Ovarian papillary adenocarcinoma, Breast carcinoma OMIM:167000
Ovarian Fibrothecoma
Fibrosarcoma, Increased serum testosterone level, Abnormal circulating hormone concentration, Ova... 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
Basal cell carcinoma, Ovarian neoplasm, Squamous cell carcinoma, Facial telangiectasia, Sparse ha... ORPHA:50944
Breast-Ovarian Cancer, Familial, Susceptibility To, 3
Ovarian carcinoma, Breast carcinoma OMIM:613399
Premature Ovarian Failure 6
Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ... OMIM:612310
Spermatogenic Failure 14
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615842
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Delayed puberty, Decreased circulating follicle stimulating hormone concentration, Decreased circ... OMIM:619761
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Delayed puberty, Breast hypoplasia, Absence of secondary sex characteristics, Reduced circulating... ORPHA:2235
Acquired Hypertrichosis Lanuginosa
Ovarian neoplasm, Hypopigmentation of hair, Neoplasm of the breast, Neoplasm of the respiratory s... ORPHA:2221
Premature Ovarian Failure 13
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Female infertility, Amen... OMIM:617442
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 2
Highly arched eyebrow, Hypoplastic nipples, Absent nipple, Hypoplastic areola, Male urethral meat... OMIM:616001
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Spermatogenic Failure 13
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615841
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility, Abnormality of the menstrual cycle, Abnormal circulating estrogen level OMIM:619009
Meningioma
Neoplasm of the tongue, Neoplasm of the skin, Impotence, Intracranial meningioma, Decreased circu... ORPHA:2495
Premature Ovarian Failure 22
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Second... OMIM:620548
Carney Complex
Ductal carcinoma in situ, Neoplasm of the stomach, Neoplasm of the pancreas, Hypertension, Pituit... ORPHA:1359
Subependymoma
Spinal cord tumor, Ovarian neoplasm, Ependymoma, Neoplasm of the lung, Neoplasm of the breast, Su... ORPHA:251639
Ependymoma
Spinal cord tumor, Ovarian neoplasm, Ependymoma, Neoplasm of the lung, Neoplasm of the breast, Su... ORPHA:251636
Peripheral Primitive Neuroectodermal Tumor
Spinal cord tumor, Abnormal bleeding, Neoplasm of the pancreas, Ovarian neoplasm, Pancreatitis, B... ORPHA:370348
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Neoplasm of the thyroid gland, Congestive heart failure, Ovarian neoplasm, Neoplasm of the breast... ORPHA:137608
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Infertility, Decre... OMIM:229070
Rhabdomyosarcoma, Embryonal, 2
Pleuropulmonary blastoma, Ovarian thecoma, Thyroid nodule, Multinodular goiter, Embryonal rhabdom... OMIM:180295
Desmoplastic Small Round Cell Tumor
Neoplasm of the central nervous system, Neoplasm of the pancreas, Ovarian neoplasm, Testicular ne... ORPHA:83469
Non-Functioning Pituitary Adenoma
Erectile dysfunction, Impotence, Female hypogonadism, Hypogonadism, Central adrenal insufficiency... ORPHA:91349
Ovarian Dysgenesis 3
Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... OMIM:614324
Oocyte/Zygote/Embryo Maturation Arrest 10
Miscarriage, Female infertility OMIM:619176
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Galactorrhea, Infertility, Female hypogonadism, Oligomenorrhea, Menorrh... ORPHA:397685
Androgen Insensitivity Syndrome
Female external genitalia in individual with 46,XY karyotype, Blind vagina, Labial hypoplasia, Sp... OMIM:300068
Prolactin Deficiency, Isolated
Infertility, Irregular menstruation, Reduced circulating prolactin concentration OMIM:264110
Pituicytoma
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Galactorrhea, ... ORPHA:251623
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia, Abnormal prolactin level, Elevated circulating follicle stimulatin... OMIM:301077
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased response to growth hormone stimulation test, Decreased thyroid-stimulating hormone leve... ORPHA:226307
Lynch Syndrome
Neoplasm of the stomach, Gastrointestinal hemorrhage, Neoplasm of the pancreas, Intestinal polypo... ORPHA:144
Bdv Syndrome
Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo... OMIM:619326
46,Xy Sex Reversal 6
Gonadal dysgenesis, Clitoral hypertrophy, Hypospadias, Hirsutism, Chordee, Sex reversal, Sparse a... OMIM:613762
Familial Multinodular Goiter
Thyroid carcinoma, Basal cell carcinoma, Ovarian neoplasm, Pleuropulmonary blastoma, Colorectal p... ORPHA:276399
Frasier Syndrome
Ovarian gonadoblastoma, Gonadal dysgenesis, Male pseudohermaphroditism, Primary amenorrhea OMIM:136680
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Decreased thyroid-stimulating hormone level, Anterior pituitary agenesis, Decreased circulating A... OMIM:620303
Spermatogenic Failure 77
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:620103
Hypogonadotropic Hypogonadism 27 Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:619755
Limb-Mammary Syndrome
Breast aplasia, Alopecia, Hypoplastic nipples, Aplasia of the uterus, Absent nipple, Hypohidrosis... ORPHA:69085
Premature Ovarian Failure 2B
Delayed puberty, Premature ovarian insufficiency, Female infertility, Primary amenorrhea OMIM:300604
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Decreased circulating ACTH concentration, Decreased ... OMIM:613986
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 1
Aplasia/Hypoplasia of the nipples, Aplasia/Hypoplasia of the breasts, Absent nipple, Hypoplastic ... OMIM:113700
Premature Ovarian Failure 7
Gonadal dysgenesis, Premature ovarian insufficiency, Clitoral hypertrophy, Absent pubic hair, Sec... OMIM:612964
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Oocyte arrest at metaphase I, Female infertility ORPHA:488191
Ovarian Dysgenesis 9
Delayed puberty, Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone ci... OMIM:619665
Fanconi Anemia, Complementation Group S
Ovarian neoplasm, Long eyelashes, Failure to thrive, Low anterior hairline, Sparse hair, Breast c... OMIM:617883
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Absence of secondary sex characteristics, Ambiguous genitalia, male, Precocious ... ORPHA:90793
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility, Abnormality of the menstrual cycle OMIM:619011
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Delayed puberty, Absent pubic hair, Hypoplasia of the ovary, Decreased circulating gonadotropin c... OMIM:614841
Ovarian Dysgenesis 1
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea OMIM:233300
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Hypoplasia ... ORPHA:168563
46,Xy Sex Reversal 11
Decreased cirrculating antimullerian hormone circulation, Gonadal dysgenesis with female appearan... OMIM:273250
Beta-Thalassemia, Dominant Inclusion Body Type
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Erythrocyte inc... OMIM:603902
Complete Androgen Insensitivity Syndrome
Delayed puberty, Increased circulating antimullerian hormone concentration, Abnormal circulating ... ORPHA:99429
Leydig Cell Hypoplasia
Absence of secondary sex characteristics, Testicular gonadoblastoma, Aplasia of the uterus, Femal... ORPHA:755
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Abnormality of the ovary, Hypogonadism, Wide intermamillary distance ORPHA:1875
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:616950
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Cowden Syndrome 1
Carcinoma, Thyroiditis, Fibroadenoma of the breast, Subcutaneous lipoma, Hamartomatous polyposis,... OMIM:158350
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Ovarian Dysgenesis 7
Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... OMIM:618117
Premature Ovarian Failure 20
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Elevated circulati... OMIM:619938
Ovarian Fibromata
Ovarian fibroma OMIM:166970
Ovarian Dysgenesis 10
Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating f... OMIM:619834
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Muir-Torre Syndrome
Basal cell carcinoma, Adenoma sebaceum, Ovarian neoplasm, Malignant genitourinary tract tumor, Be... OMIM:158320
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Hypoplastic nipples, Hypoplastic areola, Sparse hair, Arrhythmia, Hypogonadism OMIM:273400
Premature Ovarian Failure 18
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Hypopl... OMIM:619203
46,Xy Sex Reversal 7
Gonadal dysgenesis, male, Streak ovary, Abnormal epididymis morphology, Hypoplasia of the fallopi... OMIM:233420
Panhypophysitis
Abnormal thalamic MRI signal intensity, Impotence, Abnormal posterior pituitary morphogenesis, De... ORPHA:95513
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
Adenohypophysitis
Abnormal thalamic MRI signal intensity, Orthostatic hypotension, Reduced circulating prolactin co... ORPHA:95512
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Cerebellar Ataxia-Hypogonadism Syndrome
Supernumerary nipple, Abnormality of the hypothalamus-pituitary axis, Hypogonadism, Decreased fer... ORPHA:1173
Gangliocytoma
Spinal cord tumor, Neoplasm of the central nervous system, Adrenocorticotropic hormone excess, Ab... ORPHA:251937
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Azoospermia, Abnormal spermatogenesis, Decreased testicular size, Non-ob... ORPHA:399805
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Ectopic Aldosterone-Producing Tumor
Renal cortical adenoma, Ovarian neoplasm, Decreased circulating renin level, Hypertension, Glucoc... ORPHA:231632
Non-Acquired Panhypopituitarism
Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s... ORPHA:90695
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
46,Xy Sex Reversal 1
Absence of secondary sex characteristics, Gonadal dysgenesis, Abnormal female external genitalia ... OMIM:400044
Sheehan Syndrome
Bradycardia, Dyspareunia, Impotence, Decreased circulating cortisol level, Sparse axillary hair, ... ORPHA:91355
46,Xy Sex Reversal 10
Gonadal dysgenesis, Hypospadias, Ovotestis, Perineal hypospadias, Bifid scrotum, Decreased testic... OMIM:616425
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Hypergonadotropic Hypogonadism-Cataract Syndrome
Delayed puberty, Absence of secondary sex characteristics, Hypergonadotropic hypogonadism, Second... ORPHA:2410
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Absent eyelashes, Hypoplastic nipples, Absent nipple, Sparse scalp hair, Absent eyebrow, Anhidros... OMIM:614941
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:108420
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
46,Xx Gonadal Dysgenesis
Delayed puberty, Abnormality of secondary sexual hair, Premature ovarian insufficiency, Gonadal d... ORPHA:243
Ane Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Reduced circulating prola... ORPHA:157954
Chromosome Xq27.3-Q28 Duplication Syndrome
Decreased testicular size, Sparse body hair, Hypogonadism, Gynecomastia, Abdominal obesity, Incre... OMIM:300869
Partial Androgen Insensitivity Syndrome
Increased circulating antimullerian hormone concentration, Clitoral hypertrophy, Aplasia of the u... ORPHA:90797
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Asherman Syndrome
Secondary amenorrhea, Miscarriage, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the ... ORPHA:137686
Premature Ovarian Failure 10
Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Hypothyroidism, Decreased ... OMIM:612885
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Ovarian Dysgenesis 5
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:617690
Premature Ovarian Failure 1
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation OMIM:311360
Tumor Predisposition Syndrome 4
Stomach cancer, Glioma, Sarcoma, Meningioma, Breast carcinoma OMIM:609265
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Absent hair, Brittle hair, Absent nipple, Hypohidrosis, Anhidrosis, Sparse hair OMIM:614940
Frasier Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis with female appearance, male, Hypertension, Hypergo... ORPHA:347
Perrault Syndrome 4
Premature ovarian insufficiency, Hypoplasia of the ovary, Secondary amenorrhea, Bicornuate uterus... OMIM:615300
Adult Syndrome
Breast hypoplasia, Alopecia of scalp, Hypoplastic nipples, Absent nipple, Sparse scalp hair, Wide... OMIM:103285
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Hypothyroidism, Central, With Testicular Enlargement
Inappropriately normal thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-re... OMIM:300888
Isolated Follicle Stimulating Hormone Deficiency
Delayed puberty, Azoospermia, Decreased female libido, Delayed menarche, Testicular atrophy, Olig... ORPHA:52901
Li-Fraumeni Syndrome
Acute leukemia, Prostate neoplasm, Neoplasm of the pancreas, Soft tissue sarcoma, Choriocarcinoma... OMIM:151623
Ovarian Dysgenesis 8
Decreased cirrculating antimullerian hormone circulation, Eunuchoid habitus, Elevated circulating... OMIM:618187
Lynch Syndrome 5
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the pancreas, Ovarian neoplasm, Endomet... OMIM:614350
Premature Ovarian Failure 9
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating follicle stimulati... OMIM:615724
Neuroendocrine Neoplasm Of Appendix
Ovarian neoplasm, Adrenocorticotropic hormone excess, Palpitations, Hypotension, Tricuspid stenos... ORPHA:100079
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Delayed puberty, Absence of secondary sex characteristics, Ambiguous genitalia, male, Abnormal se... ORPHA:90796
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Ovarian Dysgenesis 4
Decreased serum estradiol, Decreased body weight, Elevated circulating follicle stimulating hormo... OMIM:616185
Adult Syndrome
Breast hypoplasia, Hypoplastic nipples, Absent nipple, Sparse scalp hair, Fine hair, Alopecia ORPHA:978
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Ambiguous genitalia, Polycystic ovaries, Male hypogonadism ORPHA:393
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
Tetraamelia Syndrome 2
Micropenis, Absent nipple OMIM:618021
Pituitary Apoplexy
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Reduced circul... ORPHA:95613
Müllerian Aplasia And Hyperandrogenism
High anterior hairline, Frontal balding, Increased serum testosterone level, Facial hirsutism, Ab... ORPHA:247768
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated... OMIM:614129
Melanoma-Pancreatic Cancer Syndrome
Squamous cell carcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Sarcoma, Pancreatic ade... OMIM:606719
Hypogonadism-Cataract Syndrome
Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone level, Hypogona... OMIM:240950
Ovarian Fibroma
Basal cell carcinoma, Odontogenic keratocysts of the jaw, Ovarian fibroma, Abnormality of the ova... ORPHA:314473
Lynch Syndrome 4
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Ovarian neoplasm OMIM:614337
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Abnormal circulating hormone concentration, Infertility, Hypertension, Oligomen... ORPHA:280356
Premature Ovarian Failure 21
Precocious puberty in females, Secondary amenorrhea, Elevated circulating follicle stimulating ho... OMIM:620311
X-Linked Intellectual Disability, Van Esch Type
Absence of secondary sex characteristics, Retractile testis, Hypergonadotropic hypogonadism, Decr... ORPHA:163976
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Infertility, Decreased testicular size, Sparse pubic hair, Sparse axillary hair, Primary amenorrh... OMIM:146110
Barber-Say Syndrome
Hypoplastic nipples, Hypoplastic labia minora, Absent nipple, Sparse eyelashes, Sparse eyebrow, L... OMIM:209885
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal spermatogenesis, Non-obstructive azoospermia, Decreased testicular size, Globozoospermia... ORPHA:399808
Spermatogenic Failure 28
Male infertility, Decreased testicular size, Elevated circulating follicle stimulating hormone le... OMIM:618086
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypoplasia of the uterus, Hypospadias, Abnormal reproductive sys... ORPHA:1916
Ulnar-Mammary Syndrome
Delayed puberty, Breast aplasia, Hypoplasia of penis, Hypoplastic nipples, Obesity, Arrhythmia, A... ORPHA:3138
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Ollier Disease
Precocious puberty, Chondrosarcoma, Hemangioma, Sarcoma, Neoplasm, Multiple enchondromatosis, Vis... ORPHA:296
Atypical Werner Syndrome
Delayed puberty, Premature graying of hair, Neoplasm of the skin, Hypertension, Abnormal hair who... ORPHA:79474
Premature Ovarian Failure 17
Decreased circulating inhibin B concentration, Premature ovarian insufficiency, Decreased cirrcul... OMIM:619146
Familial Pancreatic Carcinoma
Neoplasm of the liver, Breast carcinoma, Melanoma, Colon cancer, Exocrine pancreatic insufficienc... ORPHA:1333
Lhermitte-Duclos Disease
Neoplasm of the thyroid gland, Fibroadenoma of the breast, Ovarian neoplasm, Trichilemmoma ORPHA:65285
Fontaine Progeroid Syndrome
Hypoplastic nipples, Absent nipple, Sparse scalp hair, Death in infancy, Synophrys, Low posterior... OMIM:612289
Hidrotic Ectodermal Dysplasia, Halal Type
Absent eyelashes, Sparse scalp hair, Absent eyebrow, Sparse body hair, Trichodysplasia, Supernume... ORPHA:1809
Progressive Osseous Heteroplasia
Abnormality of the parathyroid gland, Sarcoma 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 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
Acrorenal-Mandibular Syndrome
Bicornuate uterus, Absent nipple, Unicornuate uterus, Uterus didelphys, Abnormality of the breast OMIM:200980
Spermatogenic Failure 75
Male infertility, Spermatocyte maturation arrest, Elevated circulating follicle stimulating hormo... OMIM:619949
Polycystic Ovary Syndrome 1
Hirsutism, Enlarged polycystic ovaries, Oligomenorrhea, Obesity, Amenorrhea OMIM:184700
Denys-Drash Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Hypertension, Ambiguous genitalia, female, Male ps... OMIM:194080
49,Xxxyy Syndrome
Increased circulating gonadotropin level, External genital hypoplasia, Abnormality of the testis ... ORPHA:261534
Premature Ovarian Failure 15
Decreased cirrculating antimullerian hormone circulation, Secondary amenorrhea, Oligomenorrhea, E... OMIM:618096
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Brittle hair, Absent eyelashes, Hypoplastic nipples, Absent nipple, Aplasia/Hypoplastia of the ec... OMIM:305100
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Pituitary Adenoma 1, Multiple Types
Increased circulating prolactin concentration, Galactorrhea, Hypertension, Pituitary growth hormo... OMIM:102200
Combined Pituitary Hormone Deficiencies, Genetic Forms
Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s... ORPHA:95494
X-Linked Intellectual Disability, Cilliers Type
Absence of secondary sex characteristics, Hypospadias, Hypergonadotropic hypogonadism, Decreased ... ORPHA:163971
Obesity Due To Congenital Leptin Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... ORPHA:66628
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Highly arched eyebrow, Abnormality of the breast, Sparse pubic h... OMIM:110100
Premature Ovarian Failure 16
Decreased serum estradiol, Reduced antral follicle count, Premature ovarian insufficiency, Elevat... OMIM:618723
Xp22.3 Microdeletion Syndrome
Secondary amenorrhea, Polycystic ovaries, Decreased fertility, Hypogonadotropic hypogonadism ORPHA:1643
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Breast hypoplasia, Hyperinsulinemia, Abnormal circulati... ORPHA:785
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Delayed puberty, Absence of secondary sex characteristics, Small pituitary gland, Impotence, Abno... ORPHA:2232
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hypergonadotropic hy... ORPHA:91
Tumor Predisposition Syndrome 2
Ductal carcinoma in situ, Acute myeloid leukemia, Uveal melanoma, Juvenile type ovarian granulosa... OMIM:619975
Ovarian Dysgenesis 2
Delayed puberty, Premature ovarian insufficiency, Secondary amenorrhea, Hirsutism, Hypergonadotro... OMIM:300510
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Nail dystrophy, Hypoplastic nipples, Thyroid hypoplasia, Absent nipple, Pulmonary arterial hypert... OMIM:620186
Cortisone Reductase Deficiency 1
Infertility, Hirsutism, Precocious puberty, Oligomenorrhea, Obesity, Alopecia OMIM:604931
Congenital Factor Vii Deficiency
Prolonged prothrombin time, Gastrointestinal hemorrhage, Post-partum hemorrhage, Gingival bleedin... ORPHA:327
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Reduced... OMIM:613038
Obesity Due To Leptin Receptor Gene Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... ORPHA:179494
Fowler Urethral Sphincter Dysfunction Syndrome
Hirsutism, Abnormality of the ovary, Oligomenorrhea, Menorrhagia, Amenorrhea, Polycystic ovaries ORPHA:2795
Legius Syndrome
Ovarian neoplasm, Acute monocytic leukemia, Non-small cell lung carcinoma, Pulmonic stenosis, Par... ORPHA:137605
Satoyoshi Syndrome
Sparse or absent eyelashes, Abnormal hair morphology, Hypoplasia of the ovary, Abnormality of the... ORPHA:3130
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:300448
Polyembryoma
Isosexual precocious puberty, Increased serum testosterone level, Abnormality of the endocrine sy... ORPHA:180229
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Absence of secondary sex characteristics, Hypoplasia of the ovary, Impotence, Fe... ORPHA:432
Perrault Syndrome 1
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea OMIM:233400
Reticulum Cell Sarcoma
Sarcoma, Neoplasm OMIM:267730
Ectodermal Dysplasia With Adrenal Cyst
Hypohidrosis, Breast hypoplasia, Hypoplastic nipples, Abnormality of the endocrine system OMIM:129550
Hepatic Adenomas, Familial
Polycystic ovaries, Maturity-onset diabetes of the young, Hepatocellular adenoma OMIM:142330
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Pituitary hypo... ORPHA:91354
Perrault Syndrome 6
Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Streak ovary, Hypoplas... OMIM:617565
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Absent nipple OMIM:104350
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... OMIM:300511
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Prolactinoma
Delayed puberty, Erectile dysfunction, Dyspareunia, Impotence, Female hypogonadism, Hypogonadism,... ORPHA:2965
Martin-Probst Syndrome
Hypoplastic nipples, Bifid scrotum, Wide intermamillary distance, Hypothyroidism, Chordee, Crypto... OMIM:300519
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Clitoral hypertrophy, Hypertension, Prematur... ORPHA:90795
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Pituitary hypothyroidism, Thyroid hypoplasia, Reduce... ORPHA:99832
Scarf Syndrome
Hepatocellular adenoma, Perineal hypospadias, Hypoplastic nipples, Bifid scrotum, Low posterior h... ORPHA:3134
Estrogen Resistance
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Breast aplasia, Incre... OMIM:615363
Steinert Myotonic Dystrophy
Neoplasm of the skin, Impotence, Prolonged QRS complex, Decreased response to growth hormone stim... ORPHA:273
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Polycystic ovaries, Dilated cardiomyopathy, Hypergonadotropic hypogonadism ORPHA:2229
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Becker Nevus Syndrome
Hypoplastic labia minora, Abnormal scrotum morphology, Aplasia/Hypoplasia of the breasts, Supernu... ORPHA:64755
Rhabdoid Tumor
Neoplasm of the central nervous system, Renal neoplasm, Hypertension, Internal hemorrhage, Sarcom... ORPHA:69077
Premature Ovarian Failure 5
Premature ovarian insufficiency, Hypoplasia of the ovary, Reduced antral follicle count, Secondar... OMIM:611548
46,Xy Sex Reversal 5
Abnormal circulating luteinizing hormone concentration, Abnormal female external genitalia morpho... OMIM:613080
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce... ORPHA:98754
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma, Weight loss ORPHA:2023
Ichthyosis With Confetti
Hypoplastic nipples, Decreased body weight, Hypertrichosis OMIM:609165
Intellectual Developmental Disorder, Autosomal Dominant 47
Cryptorchidism, Supernumerary nipple, Small for gestational age, Thin eyebrow OMIM:617635
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Decreased serum testosterone concentration, Primary amenorrhea, Decrease... OMIM:618841
Premature Ovarian Failure 11
Secondary amenorrhea, Oligomenorrhea, Elevated circulating follicle stimulating hormone level OMIM:616946
Premature Ovarian Failure 14
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:618014
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Goiter, Female infertility OMIM:617577
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features
Hypoplastic female external genitalia, Hypoplastic nipples, Hypospadias OMIM:177980
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Premature ovarian insufficiency, Lacrimal gland aplasia, Hypoplasia of the uterus, Decreased circ... ORPHA:572333
Branchioskeletogenital Syndrome
Penoscrotal hypospadias, Highly arched eyebrow, Absent nipple, Synophrys, Micropenis, Absent exte... ORPHA:1299
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Pituitary Stalk Interruption Syndrome
Delayed puberty, Diabetes insipidus, Hypoplasia of penis, Adrenal hypoplasia, Abnormality of the ... ORPHA:95496
Msh3-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the rectum, Colorectal polyposis, Stomach cancer, Ovarian dermoid cyst, Neoplasm of t... ORPHA:480536
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce... ORPHA:98793
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Reduced haptoglobin level, Anemia, Hyperbilirubinemia, Anemia of inadequate p... OMIM:613673
Choroidal Atrophy-Alopecia Syndrome
Supernumerary nipple, Sparse or absent eyelashes, Thin eyebrow, Sparse hair, Fine hair, Ungual fi... ORPHA:1433
49,Xyyyy Syndrome
Increased circulating gonadotropin level, External genital hypoplasia, Azoospermia, Abnormality o... ORPHA:99330
Infantile Myofibromatosis
Fibroma, Neoplasm of the pancreas, Gingival fibromatosis, Abnormal hair morphology, Neoplasm of t... ORPHA:2591
Acquired Ichthyosis
Sarcoma, Neoplasm, Lymphoma, Multiple myeloma ORPHA:454
Nipples, Supernumerary
Supernumerary nipple OMIM:163700
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce... ORPHA:177904
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
46,Xy Sex Reversal 3
Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la... OMIM:612965
Pituitary Gigantism
Premature pubarche, Increased circulating prolactin concentration, Galactorrhea, Pituitary growth... ORPHA:99725
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce... ORPHA:177901
Global Developmental Delay With Speech And Behavioral Abnormalities
Precocious puberty, Cryptorchidism, Supernumerary nipple OMIM:619243
Prader-Willi Syndrome
Small pituitary gland, Decreased circulating gonadotropin concentration, Hypertension, Hypogonadi... ORPHA:739
Multiple Endocrine Neoplasia Type 4
Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop... ORPHA:276152
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Delayed puberty, Absence of secondary sex characteristics, Ambiguous genitalia, male, Clitoral hy... ORPHA:168558
Burkitt Lymphoma
Neoplasm of the oral cavity, Gastrointestinal hemorrhage, Abnormality of the ovary ORPHA:543
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Delayed puberty, Absence of secondary sex characteristics, Ambiguous genitalia, male, Clitoral hy... ORPHA:289548
19Q13.11 Microdeletion Syndrome
Sparse or absent eyelashes, Hypospadias, Cachexia, Bifid scrotum, Wide intermamillary distance, S... ORPHA:217346
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Delayed puberty, Small pituitary gland, Primary amenorrhea, Cryptorchidism, Micropenis, Hypogonad... OMIM:612702
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Basal Cell Nevus Syndrome 1
Basal cell carcinoma, Cardiac rhabdomyoma, Odontogenic keratocysts of the jaw, Ovarian fibroma, H... OMIM:109400
Kallmann Syndrome
Delayed puberty, Breast hypoplasia, Erectile dysfunction, Anterior hypopituitarism, Hypoplasia of... ORPHA:478
Nut Midline Carcinoma
Pancreatic squamous cell carcinoma, Squamous cell carcinoma, Oropharyngeal squamous cell carcinom... ORPHA:443167
Adrenocortical Carcinoma
Increased circulating androstenedione concentration, Elevated serum 11-deoxycortisol, Palpitation... ORPHA:1501
Tsh-Secreting Pituitary Adenoma
Delayed puberty, Erectile dysfunction, Hypertension, Impotence, Female hypogonadism, Hyperhidrosi... ORPHA:91347
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Barber-Say Syndrome
Sparse or absent eyelashes, Breast aplasia, Hypoplastic nipples, Failure to thrive, Generalized h... ORPHA:1231
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis ORPHA:242
Apert Syndrome
Hypertension, Ovarian neoplasm ORPHA:87
Congenital Fibrinogen Deficiency
Prolonged prothrombin time, Abnormal bleeding, Hemorrhagic ovarian cyst, Gingival bleeding, Inter... ORPHA:335
X-Linked Acrogigantism
Delayed puberty, Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased... ORPHA:300373
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Clitoral hypertrophy, Abnormal ovarian physi... ORPHA:90794
Scarf Syndrome
Perineal hypospadias, Hypoplastic nipples, Bifid scrotum, Low posterior hairline, Wide intermamil... OMIM:312830
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Decreased testicular size, Primary amenorrhea, Cryptorchidism, Micropenis OMIM:614880
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Amenorrhea, Anterior hypopituitarism, Galactorrhea, Panhypopituitarism,... ORPHA:91351
45,X/46,Xy Mixed Gonadal Dysgenesis
Delayed puberty, Ambiguous genitalia, male, Prolonged QT interval, Bifid scrotum, Low posterior h... ORPHA:1772
Stolerman Neurodevelopmental Syndrome
Hemangioma, Hypoplastic nipples, Cryptorchidism OMIM:618505
Lipodystrophy, Familial Partial, Type 3
Hyperinsulinemia, Maternal diabetes, Hirsutism, Hypertension, Oligomenorrhea, Type II diabetes me... OMIM:604367
Congenital Generalized Lipodystrophy
Congestive heart failure, Clitoral hypertrophy, Hyperinsulinemia, Precocious puberty in females, ... ORPHA:528
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Partial vaginal septum, Dyspareunia, Uterus didelphys, Hydrocolpos, Dysmenorrhea, Abnormal uterin... ORPHA:3411
Boucher-Neuhauser Syndrome
Decreased circulating gonadotropin concentration, Hypogonadotropic hypogonadism OMIM:215470
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Premature graying of hair, Decreased response to growth hormone stimulation test, Decreased cirrc... OMIM:300845
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Tyshchenko Syndrome
Thick hair, Pulmonic stenosis, Low anterior hairline, Cryptorchidism, Supernumerary nipple OMIM:615102
Orthostatic Hypotension 1
Atrial fibrillation, Retrograde ejaculation, Orthostatic hypotension, Reduced circulating prolact... OMIM:223360
Full Schwannomatosis
Spinal cord tumor, Peripheral schwannoma, Lipoma, Lumbosacral hemangioma, Meningioma, Schwannoma,... ORPHA:93921
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Infertility, Bifid scrotum, True hermaphroditis... OMIM:278850
46,Xx Sex Reversal 1
Clitoral hypertrophy, Hypospadias, Ovotestis, Azoospermia, Bicornuate uterus, True hermaphroditis... OMIM:400045
Multiple Endocrine Neoplasia Type 1
Hematemesis, Adrenocortical abnormality, Neoplasm of the pancreas, Amenorrhea, Pheochromocytoma, ... ORPHA:652
Ziegler-Huang Syndrome
Anterior pituitary hypoplasia, Elevated circulating follicle stimulating hormone level, Hypogonad... OMIM:620501
Peroxisome Biogenesis Disorder 5A (Zellweger)
Clitoral hypertrophy, Hypospadias, Aortic regurgitation, Hypoplastic nipples, Death in adolescenc... OMIM:614866
Limb-Mammary Syndrome
Hypohidrosis, Hypoplastic nipples OMIM:603543
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Crouzon Syndrome
Dysgerminoma OMIM:123500
Gardner Syndrome
Neoplasm of the pancreas, Lipoma, Odontoma, Thyroid nodule, Ampulla of Vater carcinoma, Desmoid t... ORPHA:79665
Pseudohypoparathyroidism Type 1C
Decreased response to growth hormone stimulation test, Elevated circulating parathyroid hormone l... ORPHA:79444
Gray Platelet Syndrome
Abnormal bleeding, Epistaxis, Abnormality of the menstrual cycle, Bruising susceptibility, Myelod... ORPHA:721
Ulnar-Mammary Syndrome
Delayed puberty, Breast hypoplasia, Small scrotum, Anterior pituitary hypoplasia, Hypoplastic nip... OMIM:181450
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Oligomenorrhea, Decreased adiponectin level, Polycystic ovaries, Insulin-... ORPHA:79085
Hydatidiform Mole
Miscarriage, Hyperthyroidism, Menometrorrhagia, Enlarged uterus ORPHA:99927
Mgat2-Cdg
Abnormal bleeding, Abnormality of the endocrine system, Reflex asystolic syncope, Hypoplastic nip... ORPHA:79329
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Low posterior hairline, Synophrys, Tricuspid regurgitation, Interhypothalamic adhesion, Micropeni... OMIM:618929
47,Xyy Syndrome
Male infertility, Increased serum testosterone level, Hypospadias, Azoospermia, Oligozoospermia, ... ORPHA:8
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Transverse vaginal septum, Central diabetes insipidus, Decreased response to growth hormone stimu... OMIM:604292
Aromatase Deficiency
Female pseudohermaphroditism, Primary amenorrhea, Ovarian cyst, Hypergonadotropic hypogonadism OMIM:613546
Schinzel-Giedion Midface Retraction Syndrome
Small scrotum, Hypospadias, Hypoplastic nipples, Teratoma, Bicornuate uterus, Hypoplastic labia m... OMIM:269150
2P15P16.1 Microdeletion Syndrome
Aortic regurgitation, Wide intermamillary distance, Decreased testicular size, Long eyelashes, Sp... ORPHA:261349
Familial Colorectal Cancer Type X
Neoplasm of the thyroid gland, Basal cell carcinoma, Neoplasm of the pancreas, Gastrointestinal h... ORPHA:440437
Apc-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the pancreas, Lipoma, Odontoma, Thyroid nodule, Desmoid tumors, Fibroadenoma of the b... ORPHA:247806
Solitary Fibrous Tumor
Genital neoplasm, Neoplasm of the nervous system, Hypoinsulinemia, Neoplasm of the lung, Vaginal ... ORPHA:2126
Hereditary Leiomyomatosis And Renal Cell Cancer
Esophageal neoplasm, Cutaneous leiomyoma, Barrett esophagus, Papillary renal cell carcinoma type ... ORPHA:523
Tetragametic Chimerism
Clitoral hypertrophy, Perineal hypospadias, Ovotestis, Bifid scrotum, Abnormal testis morphology,... ORPHA:199310
Sialuria
Hypoplastic nipples, Hirsutism, Low posterior hairline, Synophrys, Generalized hirsutism OMIM:269921
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Supernumerary nipple, Hypospadias, Truncal obesity, Alopecia ORPHA:3224
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Pulmonary arterial hypertension, Congenital hypothyroidism, Micropenis, Cryptorchidism, Supernume... ORPHA:2519
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Transverse vaginal septum, Central diabetes insipidus, Decreased response to growth hormone stimu... OMIM:129900
Woods Syndrome
Frontal hirsutism, Supernumerary nipple OMIM:615236
Cowden Syndrome
Lipoma, Neoplasm of the skin, Neoplasm, Neoplasm of the central nervous system, Adenoma sebaceum,... ORPHA:201
Gorlin Syndrome
Basal cell carcinoma, Odontogenic keratocysts of the jaw, Ovarian fibroma, Medulloblastoma, Cardi... ORPHA:377
Pituitary Carcinoma
Enlarged pituitary gland, Pituitary gonadotropic cell adenoma, Diabetes insipidus, Increased circ... ORPHA:300385
Acces Syndrome
Failure to thrive, Supernumerary nipple, Sparse scalp hair OMIM:619959
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, Labial hypoplasia, Absent eyelashes, Hypoplastic nipples, Wide intermamill... OMIM:608156
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Congenital Factor V Deficiency
Spontaneous hematomas, Gastrointestinal hemorrhage, Persistent bleeding after trauma, Post-partum... ORPHA:326
Cidec-Related Familial Partial Lipodystrophy
Pancreatitis, Decreased serum leptin, Oligomenorrhea, Decreased adiponectin level, Polycystic ova... ORPHA:435651
Yunis-Varon Syndrome
Severe failure to thrive, Hypospadias, Hypoplastic nipples, Cardiomyopathy, Sparse scalp hair, Ab... OMIM:216340
Ovarian Hyperstimulation Syndrome
Increased serum testosterone level, Capillary leak, Hemorrhagic ovarian cyst, Hirsutism, Enlarged... ORPHA:64739
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development
Hypospadias, Glandular hypospadias, Dystrophic toenail, Low posterior hairline, Long eyelashes, L... OMIM:604314
Precocious Puberty, Central, 1
Hypothyroidism, Isosexual precocious puberty, Elevated circulating follicle stimulating hormone l... OMIM:176400
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Basal cell carcinoma, Neoplasm of the rectum, Squamous cell carcinoma, Adenomatous colonic polypo... ORPHA:454840
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Supernumerary nipple, Synophrys OMIM:616083
Pseudohypoparathyroidism Type 1A
Decreased response to growth hormone stimulation test, Elevated circulating parathyroid hormone l... ORPHA:79443
Skin Creases, Congenital Symmetric Circumferential, 1
Wide intermamillary distance, Hypoplastic nipples, Localized neuroblastoma OMIM:156610
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Highly arched eyebrow, Leukemia, Micropenis, Cryptorchidism, Supernumerary nipple, Myelodysplasia OMIM:619951
Incontinentia Pigmenti
Breast hypoplasia, Nail dystrophy, Breast aplasia, Hypoplastic nipples, Retinal hemorrhage, Spars... OMIM:308300
Mast Cell Sarcoma
Sarcoma, Weight loss ORPHA:66661
Proteus Syndrome
Lipoma, Cachexia, Neoplasm, Thymus hyperplasia, Hamartoma, Neoplasm of the central nervous system... ORPHA:744
Intellectual Developmental Disorder, Autosomal Recessive 65
Cryptorchidism, Supernumerary nipple, Hypospadias OMIM:618109
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Anemia, Reticulocytosis, Hepatosplenomegaly, Splenomegaly,... ORPHA:846
Van Maldergem Syndrome 2
High anterior hairline, Hypospadias, Hypoplastic nipples, Bifid scrotum, Cryptorchidism, Micropenis OMIM:615546
Beta-Thalassemia
Abnormality of iron homeostasis, Anemia, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Mic... ORPHA:848
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pancreatitis, Decreased circulating ACTH concentration, Pigmented micronodular adrenocortical dis... OMIM:610475
Mullerian Aplasia And Hyperandrogenism
Increased circulating androstenedione concentration, Aplasia of the vagina, Increased circulating... OMIM:158330
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Delayed puberty, Abnormal female external genitalia morphology, Abnormal ovarian morphology, Abno... ORPHA:95699
Filippi Syndrome
Cryptorchidism, Supernumerary nipple ORPHA:3255
Familial Adenomatous Polyposis
Lipoma, Odontoma, Pituitary adenoma, Neoplasm of the gastrointestinal tract, Desmoid tumors, Duod... ORPHA:733
Familial Adenomatous Polyposis 4
Gastric adenocarcinoma, Astrocytoma, Breast intraductal papilloma, Ovarian cyst, Thyroid adenoma,... OMIM:617100
Short-Rib Thoracic Dysplasia 12
Hypoplastic nipples, Wide intermamillary distance, Neonatal death, Ambiguous genitalia, Hamartoma... OMIM:269860
Alg9-Cdg
Hypoplasia of the ovary, Hypoplastic nipples, Bicornuate uterus, Low posterior hairline, Tricuspi... ORPHA:79328
Developmental And Epileptic Encephalopathy 51
Failure to thrive, Supernumerary nipple OMIM:617339
Trichohepatoneurodevelopmental Syndrome
Cholelithiasis, Thoracic hypertrichosis, Hypoplastic nipples, Decreased body weight, Woolly hair,... OMIM:618268
Yellow Nail Syndrome
Renal neoplasm, Yellow nails, Neoplasm of the lung, Pulmonary arterial hypertension, Sarcoma, Bil... ORPHA:662
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Hirsutism, Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Polycy... ORPHA:90301
Neurofibromatosis Type 1
Delayed puberty, Rhabdomyosarcoma, Spinal neurofibroma, Abnormality of the endocrine system, Pheo... ORPHA:636
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Breast aplasia, Decreased testicular size, Eunuchoid habitus, Elevated circulating follicle stimu... ORPHA:3044
Mccune-Albright Syndrome
Hepatocellular adenoma, Ovarian cyst, Abnormal endocrine physiology, Increased circulating cortis... ORPHA:562
Czeizel-Losonci Syndrome
Hypoplastic nipples, Wide intermamillary distance ORPHA:2437
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypoplasia of penis, Hypothyroidism, Hypohidrosis, Aplasia/Hypoplasia of the eyebrow, Fine hair, ... ORPHA:1812
Testicular Agenesis
Hypoplasia of the uterus, Abnormal vas deferens morphology, Absent external genitalia, Urogenital... ORPHA:325124
Opsoclonus-Myoclonus Syndrome
Small cell lung carcinoma, Neoplasm of the lung, Ovarian teratoma, Melanoma, Neuroblastoma, Breas... ORPHA:1183
Attenuated Familial Adenomatous Polyposis
Fibroma, Neoplasm of the stomach, Colorectal polyposis, Rectal polyposis, Adenocarcinoma of the c... ORPHA:220460
Rapp-Hodgkin Syndrome
Nail dystrophy, Pili canaliculi, Decreased number of sweat glands, Hypospadias, Slow-growing hair... OMIM:129400
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Failure to thrive, Premature ovarian insufficiency, Female infertility OMIM:619518
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:300946
21Q22.11Q22.12 Microdeletion Syndrome
Failure to thrive in infancy, Nail dystrophy, Hypoplastic nipples ORPHA:261323
Cowden-Like syndrome
Endometrial carcinoma, Uterine leiomyoma, Papillary thyroid carcinoma, Breast carcinoma OMIM:612359
Congenital Factor X Deficiency
Prolonged prothrombin time, Spontaneous hematomas, Gastrointestinal hemorrhage, Post-partum hemor... ORPHA:328
Bainbridge-Ropers Syndrome
Highly arched eyebrow, Hirsutism, Death in infancy, Precocious puberty, Long eyelashes, Synophrys... OMIM:615485
Methemoglobinemia And Ambiguous Genitalia
Hypospadias, Scrotal hypospadias, Bifid scrotum, Decreased circulating dehydroepiandrosterone-sul... OMIM:250790
Glucocorticoid Resistance, Generalized
Increased circulating androstenedione concentration, Increased serum testosterone level, Infertil... OMIM:615962
Large Congenital Melanocytic Nevus
Rhabdomyosarcoma, Neoplasm of the skin, Sarcoma, Generalized hirsutism, Neoplasm, Cutaneous melanoma ORPHA:626
2Q37 Microdeletion Syndrome
Highly arched eyebrow, Sparse scalp hair, Wide intermamillary distance, Sparse eyebrow, Obesity, ... ORPHA:1001
Afibrinogenemia, Congenital
Hematemesis, Abnormal bleeding, Death in childhood, Epidural hemorrhage, Gingival bleeding, Death... OMIM:202400
Monosomy 9Q22.3
Large for gestational age, Basal cell carcinoma, Rhabdomyosarcoma, Odontogenic keratocysts of the... ORPHA:77301
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Nail dystrophy, Vaginal dryness, Hypospadias, Absent eyelashes, Patchy alopecia, Anhidrosis, Spar... OMIM:106260
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Anterior hypopituitarism, Diabetes insipidus, Pituitary hypothyroidism,... ORPHA:91350
Culler-Jones Syndrome
Diabetes insipidus, Anterior pituitary hypoplasia, Hypogonadism, Hypopituitarism, Cryptorchidism,... OMIM:615849
Cornelia De Lange Syndrome
Delayed puberty, Hypospadias, Curly eyelashes, Hypoplasia of penis, Highly arched eyebrow, Hypopl... ORPHA:199
Parathyroid Carcinoma
Fibroma, Parathyroid carcinoma, Thyroid carcinoma, Elevated circulating parathyroid hormone level... ORPHA:143
Cornelia De Lange Syndrome 1
Hypospadias, Curly eyelashes, Highly arched eyebrow, Hypoplastic male external genitalia, Hypopla... OMIM:122470
Mayer-Rokitansky-Küster-Hauser Syndrome
Endometriosis, Aplasia of the uterus, Ectopic ovary, Dyspareunia, Pulmonic stenosis, Hypoplasia o... ORPHA:3109
Tuberous Sclerosis 2
Retinal hamartoma, Adenoma sebaceum, Wolff-Parkinson-White syndrome, Cardiac rhabdomyoma, Subungu... OMIM:613254
Generalized Glucocorticoid Resistance Syndrome
Abnormal circulating testosterone concentration, Frontal balding, Ambiguous genitalia, Increased ... ORPHA:786
Acromesomelic Dysplasia 3
Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated... OMIM:609441
Kleefstra Syndrome
Hypospadias, Hypoplasia of penis, Highly arched eyebrow, Synophrys, Obesity, Micropenis, Arrhythm... ORPHA:261494
Monosomy 22
Aplasia of the thymus, Synophrys, Sarcoma, Meningioma, Hyperhidrosis, Gonadal neoplasm, Sparse ha... ORPHA:96123
Turner Syndrome Due To Structural X Chromosome Anomalies
Delayed puberty, Prolonged QT interval, Hypertension, Low posterior hairline, Wide intermamillary... ORPHA:99413
Turner Syndrome
Delayed puberty, Prolonged QT interval, Hypertension, Low posterior hairline, Wide intermamillary... ORPHA:881
Mosaic Monosomy X
Delayed puberty, Prolonged QT interval, Hypertension, Low posterior hairline, Wide intermamillary... ORPHA:99228
Monosomy X
Delayed puberty, Prolonged QT interval, Hypertension, Low posterior hairline, Wide intermamillary... ORPHA:99226
Dermatofibrosarcoma Protuberans
Fibrosarcoma, Neoplasm of the skin ORPHA:31112
Liposarcoma
Sarcoma, Weight loss ORPHA:69078
African Trypanosomiasis
Abnormality of renin-angiotensin system, Myocarditis, Congestive heart failure, Abnormality of th... ORPHA:3385
Multiple Pterygium Syndrome, Escobar Variant
Absence of labia majora, Hypospadias, Exostosis of the external auditory canal, Hypoplastic nippl... OMIM:265000
Bardet-Biedl Syndrome 1
Truncal obesity, Hirsutism, Hypertension, Abnormality of the ovary, Nephrogenic diabetes insipidu... OMIM:209900
Myotonic Dystrophy 2
Frontal balding, Right bundle branch block, Oligozoospermia, Premature ventricular contraction, E... OMIM:602668
Woodhouse-Sakati Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Prematu... ORPHA:3464
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Large for gestational age, Highly arched eyebrow, Hypoplastic nipples, Sparse lateral eyebrow, Ac... OMIM:280000
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Gastrointestinal carcinoma, Precocious puberty with Sertoli cell tumor,... OMIM:175200
Bohring-Opitz Syndrome
Hyperechogenic pancreas, Thick hair, Hirsutism, Wide intermamillary distance, Failure to thrive, ... OMIM:605039
Chromosome 1Q41-Q42 Deletion Syndrome
Sparse eyebrow, Cryptorchidism, Supernumerary nipple OMIM:612530
Postaxial Acrofacial Dysostosis
Supernumerary nipple ORPHA:246
Klippel-Trénaunay Syndrome
Congestive heart failure, Gastrointestinal hemorrhage, Internal hemorrhage, Hemangioma, Abnormali... ORPHA:90308
Pallister-Hall Syndrome
Hypothalamic hamartoma, Thyroid hypoplasia, Small scrotum, Central adrenal insufficiency, Hydrome... ORPHA:672
Trisomy 12P
Thick eyebrow, Supernumerary nipple ORPHA:1699
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, Low posterior hairline, Aplasia/Hypoplasia of the nipple... ORPHA:1521
Ring Chromosome 12 Syndrome
Breast hypoplasia, Uterine leiomyoma, Glandular hypospadias, Hirsutism, Dystrophic toenail, Hypot... ORPHA:1439
Gapo Syndrome
Breast hypoplasia, Hypoplastic nipples, Sparse eyelashes, Sparse eyebrow, Sparse hair, Alopecia OMIM:230740
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features
Highly arched eyebrow, Synophrys, Chordee, Cryptorchidism, Supernumerary nipple OMIM:616728
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
High anterior hairline, Synophrys, Sparse eyebrow, Thick eyebrow, Inverted nipples, Supernumerary... OMIM:620098
Hyperparathyroidism-Jaw Tumor Syndrome
Fibroma, Thyroid carcinoma, Elevated circulating parathyroid hormone level, Pancreatitis, Lipoma,... ORPHA:99880
Grfoma
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Pheochromocytoma, Pituitary adenoma, Parat... ORPHA:97261
Aarskog-Scott Syndrome
Delayed puberty, Bilateral cryptorchidism, Failure to thrive, Elevated circulating follicle stimu... OMIM:305400
Char Syndrome
Supernumerary nipple ORPHA:46627
Multiple Endocrine Neoplasia, Type Iv
Pancreatic endocrine tumor, Carcinoma, Primary hyperparathyroidism, Hypothyroidism, Hashimoto thy... OMIM:610755
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased response to growth hormone stimulation test, Red hair, Decreased growth hormone respons... OMIM:609734
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Supernumerary nipple OMIM:614376
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia OMIM:618849
Ppoma
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Increased circulating gonadotropin level, ... ORPHA:97278
Milroy Disease
Angiosarcoma, Neoplasm of the skin, Hydrocele testis ORPHA:79452
Retinoblastoma
Rhabdomyosarcoma, Vitreous hemorrhage, Leiomyosarcoma, Retinoblastoma, Subretinal pigment epithel... ORPHA:790
Johanson-Blizzard Syndrome
Clitoral hypertrophy, Death in childhood, Hypospadias, Rectovaginal fistula, Primary hypothyroidi... OMIM:243800
Hereditary Leiomyomatosis And Renal Cell Cancer
Cutaneous leiomyosarcoma, Cutaneous leiomyoma, Renal cell carcinoma, Uterine leiomyosarcoma, Mult... OMIM:150800
Acromesomelic Dysplasia, Grebe Type
Sarcoma, Death in infancy ORPHA:2098
Wiskott-Aldrich Syndrome
Hematemesis, Spontaneous hematomas, Epistaxis, Hematochezia, Bruising susceptibility, Neoplasm, P... ORPHA:906
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Supernumerary nipple OMIM:616579
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Large for gestational age, Decreased response to growth hormone stimulation test, Highly arched e... OMIM:213980
Hb Bart'S Hydrops Fetalis
Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Sickle Cell Anemia
Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Splenic infa... ORPHA:232
Mayer-Rokitansky-Kuster-Hauser Syndrome
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina... OMIM:277000
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
High anterior hairline, Hypospadias, Sparse scalp hair, Synophrys, Chordee, Sparse eyebrow, Crypt... ORPHA:477993
Familial Adenomatous Polyposis 1
Fibroma, Osteoma, Duodenal polyposis, Adrenocortical adenoma, Adenomatous colonic polyposis, Carc... OMIM:175100
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Esophageal neoplasm, Fibroma, Abnormality of the female genitalia, Diffuse leiomyomatosis, Vagina... ORPHA:1018
Nelson Syndrome
Anterior hypopituitarism, Secondary hypercortisolism, Diabetes insipidus, Adrenocorticotropic hor... ORPHA:199244
Paraneoplastic Pemphigus
B-cell lymphoma, Sarcoma, Thymoma ORPHA:63455
Carpenter Syndrome 2
Highly arched eyebrow, Hypoplastic nipples, Bilateral cryptorchidism, Wide intermamillary distanc... OMIM:614976
Desmoid Tumor
Fibroma, Gastrointestinal hemorrhage, Intestinal polyposis, Neoplasm of the skin, Desmoid tumors ORPHA:873
Bannayan-Riley-Ruvalcaba Syndrome
Thyroid carcinoma, Intestinal polyposis, Lipoma, Capillary hemangioma, Angina pectoris, Neoplasm ... ORPHA:109
Vertebral Hypersegmentation And Orofacial Anomalies
Supernumerary nipple, Widow's peak OMIM:619122
Pitt-Hopkins Syndrome
Micropenis, Sparse medial eyebrow, Frontal upsweep of hair, Cryptorchidism, Supernumerary nipple OMIM:610954
Somatostatinoma
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Increased circulating gonadotropin level, ... ORPHA:97283
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Highly arched eyebrow, Obesity, Micropenis, Heart murmur, Cryptorchidism, Supernumerary nipple OMIM:618653
Hereditary Methemoglobinemia
Athetosis, Methemoglobinemia ORPHA:621
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Large for gestational age, External genital hypoplasia, Inverted nipples, Miscarriage, Hypoplasti... ORPHA:96334
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hypothyroidism, Fibroma, Mitral regurgitation, Hypertrichosis OMIM:619750
Vipoma
Neoplasm of the pancreas, Increased circulating gonadotropin level, Adrenocortical adenoma, Neopl... ORPHA:97282
Incontinentia Pigmenti
Congestive heart failure, Abnormal hair morphology, Dystrophic toenail, Cerebral ischemia, Retina... ORPHA:464
Gastrointestinal Stromal Tumor
Esophageal neoplasm, Neoplasm of the stomach, Gastrointestinal hemorrhage, Neoplasm of the rectum... ORPHA:44890
Teratoma, Ovarian
Ovarian teratoma OMIM:166950
Nmda Receptor Encephalitis
Orthostatic hypotension, Testicular teratoma, Neoplasm of the thymus, Ovarian teratoma, Neoplasm ... ORPHA:217253
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Hypospadias, Dilated third ventricle, Wide intermamillary distance, Failure to thrive, Supernumer... ORPHA:397715
Postaxial Acrofacial Dysostosis
Cryptorchidism, Supernumerary nipple, Micropenis OMIM:263750
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Nail dystrophy, External genital hypoplasia, Clitoral hypertrophy, Hypospadias, Ovotestis, Carcin... OMIM:610644
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Congestive heart failure, Pulmonary arterial hypertension, Exostoses, Neonatal death, Uterine lei... OMIM:616482
Au-Kline Syndrome
Hypertension, Wide intermamillary distance, Sparse lateral eyebrow, Failure to thrive, Inverted n... OMIM:616580
Trichothiodystrophy 6, Nonphotosensitive
Decreased mean corpuscular volume, Increased HbA2 hemoglobin, Broad-based gait OMIM:616943
Pitt-Hopkins Syndrome
Hodgkin lymphoma, Failure to thrive, Micropenis, Cryptorchidism, Supernumerary nipple ORPHA:2896
Hyperphosphatasia-Intellectual Disability Syndrome
Highly arched eyebrow, Supernumerary nipple, Telangiectasia ORPHA:247262
Developmental Delay With Or Without Dysmorphic Facies And Autism
Highly arched eyebrow, Pulmonary arterial hypertension, Microphallus, Small scrotum, Cryptorchidi... OMIM:618454