Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
prolactin
Synonyms:
Prl1a1,  Prl

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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 Prl 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 Prl by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Post-Traumatic Pituitary Deficiency
Abnormal prolactin level, Abnormality of secondary sexual hair, Infertility, Amenorrhea, Hypogona... ORPHA:95619
Pituitary Dermoid And Epidermoid Cysts
Oligospermia, Increased circulating prolactin concentration, Enlarged pituitary gland, Oligomenor... ORPHA:91351
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Type II diabetes mellitus, Hypogonadotropic hypogonadism, Decreased circu... ORPHA:453533
Pituitary Carcinoma
Increased circulating prolactin concentration, Enlarged pituitary gland, Diabetes insipidus, Mali... ORPHA:300385
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Secondary amenorrhea, Abnormality of the Leydig cells, Androgen insuff... OMIM:228300
X-Linked Acrogigantism
Enlarged pituitary gland, Adrenocorticotropic hormone deficiency, Diabetes insipidus, Increased s... ORPHA:300373
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility, Reduced circulating prolactin concentration OMIM:264110
Functioning Gonadotropic Adenoma
Oligospermia, Abnormal prolactin level, Increased serum testosterone level, Abnormality of the me... ORPHA:91348
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size OMIM:614880
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hor... OMIM:308750
Non-Functioning Pituitary Adenoma
Adrenal insufficiency, Increased serum testosterone level, Abnormality of the menstrual cycle, De... ORPHA:91349
Pituicytoma
Increased circulating prolactin concentration, Amenorrhea, Hypogonadotropic hypogonadism, Pituita... ORPHA:251623
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Azoospermia, Hypogonadotropic hypogonadism, Decreased circulating follicle st... OMIM:308700
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Secondary growth hormone deficiency, Abse... ORPHA:2235
Pituitary Hormone Deficiency, Combined, 2
Adrenal insufficiency, Hypogonadism, Panhypopituitarism, Hypothyroidism, Reduced circulating prol... OMIM:262600
Gangliocytoma
Abnormal prolactin level, Neoplasm of the central nervous system, Amenorrhea, Spinal cord tumor, ... ORPHA:251937
Tsh-Secreting Pituitary Adenoma
Goiter, Abnormality of the menstrual cycle, Decreased female libido, Abnormality of the pituitary... ORPHA:91347
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Hypogonadotropic hypogonadism, Small pituitary gland, Micropenis, Primary amenorrhea, Cryptorchidism OMIM:612702
Adenohypophysitis
Increased circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Hashimoto ... ORPHA:95512
Panhypophysitis
Increased circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Hashimoto ... ORPHA:95513
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Diabetes insipidus, Hypogonadotropic hypogonadism, Pituitary hypothyroi... ORPHA:91350
Hyperprolactinemia
Menorrhagia, Infertility, Oligomenorrhea, Increased circulating prolactin concentration OMIM:615555
Thyroid Hormone Metabolism, Abnormal
Elevated circulating thyroid-stimulating hormone concentration OMIM:609698
Meningioma
Neoplasm of the skin, Hypothalamic hypothyroidism, Decreased circulating follicle stimulating hor... ORPHA:2495
Hypothyroidism, Congenital, Nongoitrous, 8
Central hypothyroidism, Secondary amenorrhea, Decreased circulating free T4 level, Inappropriatel... OMIM:301033
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:619613
Ane Syndrome
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Pituitary hypothyroi... ORPHA:157954
Isolated Growth Hormone Deficiency, Type Iv
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Decreased s... OMIM:618157
Hypothyroidism, Central, With Testicular Enlargement
Inappropriately normal thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-re... OMIM:300888
Craniopharyngioma
Central adrenal insufficiency, Enlarged pituitary gland, Type II diabetes mellitus, Cerebral calc... ORPHA:54595
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Decreased response to growth hormone stimulation test OMIM:615925
Non-Acquired Panhypopituitarism
Abnormal prolactin level, Abnormality of secondary sexual hair, Infertility, Amenorrhea, Hypogona... ORPHA:90695
Sheehan Syndrome
Decreased female libido, Sparse pubic hair, Adrenocorticotropin deficient adrenal insufficiency, ... ORPHA:91355
Amenorrhea-Galactorrhea Syndrome
Pituitary adenoma, Secondary amenorrhea OMIM:104600
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Inappropriate antidiuretic hormone secretion, Thyroid hypoplasia, Hypogonadotropic hypogonadism, ... ORPHA:226307
Bdv Syndrome
Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... OMIM:619326
Premature Ovarian Failure 1
Irregular menstruation, Premature ovarian insufficiency, Increased circulating gonadotropin level OMIM:311360
Isolated Growth Hormone Deficiency, Type Ib
Decreased response to growth hormone stimulation test OMIM:612781
Ovarian Dysgenesis 1
Gonadal dysgenesis, Primary amenorrhea, Increased circulating gonadotropin level OMIM:233300
Hypergonadotropic Hypogonadism-Cataract Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Increased circulat... ORPHA:2410
Isolated Follicle Stimulating Hormone Deficiency
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... ORPHA:52901
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Sparse pubic hair, Agonadism, Sparse and thin eyebrow, Primary gonadal insufficiency, Breast hypo... ORPHA:2232
Oliver-Mcfarlane Syndrome
Hypoplasia of penis, Hypogonadotropic hypogonadism, Alopecia, Long eyelashes, Cryptorchidism, Dec... OMIM:275400
Premature Ovarian Failure 9
Amenorrhea, Premature ovarian insufficiency, Increased circulating gonadotropin level OMIM:615724
Pituitary Apoplexy
Increased circulating prolactin concentration, Oligomenorrhea, Hypergonadotropic hypogonadism, In... ORPHA:95613
Isolated Growth Hormone Deficiency, Type Ia
Decreased response to growth hormone stimulation test, Impaired growth-hormone response to insuli... OMIM:262400
Pituitary Dwarfism With Large Sella Turcica
Decreased response to growth hormone stimulation test, Hypothyroidism OMIM:262710
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 level, D... ORPHA:171706
Hyperostosis Frontalis Interna
Irregular menstruation, Hypertrichosis, Diabetes mellitus, Increased circulating prolactin concen... OMIM:144800
Premature Ovarian Failure 6
Secondary amenorrhea, Streak ovary, Elevated circulating follicle stimulating hormone level, Fema... OMIM:612310
Combined Pituitary Hormone Deficiencies, Genetic Forms
Abnormal prolactin level, Abnormality of secondary sexual hair, Infertility, Agenesis of corpus c... ORPHA:95494
Congenital Disorder Of Glycosylation, Type Iiq
Small pituitary gland, Diffuse cerebral atrophy, Elevated hepatic transaminase, Secondary microce... OMIM:617395
Premature Ovarian Failure 19
Secondary amenorrhea, Female infertility, Irregular menstruation, Premature ovarian insufficiency OMIM:619245
Isolated Growth Hormone Deficiency, Type Ii
Decreased response to growth hormone stimulation test OMIM:173100
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Decreased response to growth hormone stimulation test, Panhypopituitarism, Hypothyroidism OMIM:300123
Arthrogryposis, distal, with hypopituitarism, mental retardation,and facial anomalies
Decreased response to growth hormone stimulation test, Anterior hypopituitarism OMIM:208080
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
46,Xy Sex Reversal 11
Vanishing testis, Gonadal dysgenesis with female appearance, male, Aplasia of the uterus, Decreas... OMIM:273250
Pituitary Adenoma 1, Multiple Types
Increased serum insulin-like growth factor 1, Pituitary growth hormone cell adenoma, Pituitary ad... OMIM:102200
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Oligomenorrhea, Pituitary hypothyroidism, Impotence, Adrenocorticotropic hormone deficiency, Cent... ORPHA:91354
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermato... ORPHA:399805
Non-Acquired Isolated Growth Hormone Deficiency
Anterior hypopituitarism ORPHA:631
Resistance To Thyrotropin-Releasing Hormone Syndrome
Decreased circulating free T3, Thyroid hypoplasia, Pituitary hypothyroidism, Decreased circulatin... ORPHA:99832
Premature Ovarian Failure 8
Ovarian neoplasm, Primary amenorrhea, Premature ovarian insufficiency, Increased circulating gona... OMIM:615723
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Decreased response to growth hormone stimulation test, Microcephaly OMIM:618160
Joubert Syndrome 26
Central hypothyroidism, Decreased response to growth hormone stimulation test, Micropenis, Panhyp... OMIM:616784
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Azoospermia, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Micropenis, Primary amenorrh... OMIM:614837
Bonnemann-Meinecke-Reich Syndrome
Decreased response to growth hormone stimulation test, Microcephaly, Cerebral calcification ORPHA:1261
Ovarian Dysgenesis 9
Decreased antimullerian hormone level, Elevated circulating follicle stimulating hormone level, H... OMIM:619665
Premature Ovarian Failure 17
Decreased antimullerian hormone level, Elevated circulating follicle stimulating hormone level, D... OMIM:619146
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
Leydig Cell Hypoplasia
Hypospadias, Secondary amenorrhea, Aplasia of the uterus, Abnormal external genitalia, Micropenis... ORPHA:755
Androgen Insensitivity Syndrome
Elevated circulating follicle stimulating hormone level, Labial hypoplasia, Neoplasm, Sparse pubi... OMIM:300068
Gordon Holmes Syndrome
Hypogonadotropic hypogonadism, Infertility, Oligomenorrhea, Cerebral atrophy OMIM:212840
Premature Ovarian Failure 7
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Clitoral hypertrop... OMIM:612964
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Testicular dysgenesis, Gonadal dysgenesis with female appearance, male, Abnormal vagina morpholog... ORPHA:168563
Prader-Willi Syndrome
Hypoplastic labia minora, Premature adrenarche, Decreased response to growth hormone stimulation ... ORPHA:739
Sim1-Related Prader-Willi-Like Syndrome
Hypoplastic labia minora, Premature adrenarche, Micropenis, Infertility, Type II diabetes mellitu... ORPHA:398079
Perrault Syndrome 1
Gonadal dysgenesis, Primary amenorrhea, Increased circulating gonadotropin level OMIM:233400
Obesity Due To Prohormone Convertase I Deficiency
Central adrenal insufficiency, Pituitary hypothyroidism, Gonadotropin deficiency, Hyperinsulinemi... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Central adrenal insufficiency, Pituitary hypothyroidism, Gonadotropin deficiency, Hyperinsulinemi... ORPHA:71526
Prolactinoma
Abnormality of the menstrual cycle, Decreased female libido, Abnormality of the pituitary gland, ... ORPHA:2965
Panhypopituitarism, X-Linked
Panhypopituitarism OMIM:312000
46,Xy Sex Reversal 1
Sex reversal, Elevated circulating follicle stimulating hormone level, Gonadoblastoma, Abnormalit... OMIM:400044
Complete Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Increased serum testosterone level, Aplasia of the uterus,... ORPHA:99429
Cog2-Cdg
Decreased liver function, Small pituitary gland, Diffuse cerebral atrophy, Secondary microcephaly... ORPHA:435934
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Absence of pubertal development, Micropenis, Primary amenorrhea, C... OMIM:614840
Premature Ovarian Failure 18
Secondary amenorrhea, Decreased antimullerian hormone level, Elevated circulating follicle stimul... OMIM:619203
X-Linked Intellectual Disability, Van Esch Type
Type II diabetes mellitus, Absence of secondary sex characteristics, Increased circulating gonado... ORPHA:163976
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Infertility, Hypogonadotropic hypogonadism, Sparse pubic hair, Micropenis, Primary amenorrhea, Sp... OMIM:146110
Premature Ovarian Failure 16
Reduced antral follicle count, Elevated circulating follicle stimulating hormone level, Premature... OMIM:618723
46,Xx Gonadal Dysgenesis
Abnormality of secondary sexual hair, Secondary amenorrhea, Streak ovary, Aplasia/hypoplasia of t... ORPHA:243
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm morphology, Abnormal sperm tail morphology, Increased circulating gonadotropin lev... ORPHA:399808
Chromosome Xq27.3-Q28 Duplication Syndrome
Increased circulating gonadotropin level, Hypogonadism, Cryptorchidism, Decreased testicular size... OMIM:300869
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Pituitary hypothyroidism, Gonadotropin deficiency, Anterior pituitary hypoplasia, Hypothalamic lu... ORPHA:231720
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Decreased serum estradiol, Micropenis, Hy... OMIM:614841
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Increased circulating progesterone, Hypospadias, Aplasia of the uterus, Bifid scrotum, Elevated c... ORPHA:90793
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Hypoplastic labia minora, Premature adrenarche, Decreased response to growth hormone stimulation ... ORPHA:98754
Pituitary Hormone Deficiency, Combined, 3
Gonadotropin deficiency, Decreased response to growth hormone stimulation test, Anterior pituitar... OMIM:221750
Leptin Receptor Deficiency
Abnormal hypothalamus morphology, Pituitary hypothyroidism, Diabetes mellitus, Hypergonadotropic ... OMIM:614963
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Azoospermia, Hypogonadism, Primary amenorrhea, Decreased testicular size OMIM:229070
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Hypoplastic labia minora, Premature adrenarche, Decreased response to growth hormone stimulation ... ORPHA:98793
Hypersecretion Of Adrenal Androgens, Familial
Adrenal overactivity, Hirsutism, Amenorrhea, Increased circulating androgen concentration, Premat... OMIM:145295
Septooptic Dysplasia
Diabetes insipidus, Absent septum pellucidum, Anterior pituitary hypoplasia, Decreased response t... OMIM:182230
Hypogonadism-Cataract Syndrome
Hypogonadism, Elevated circulating follicle stimulating hormone level, Infertility, Male hypogona... OMIM:240950
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Hypoplastic labia minora, Premature adrenarche, Decreased response to growth hormone stimulation ... ORPHA:177904
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Hypoplastic labia minora, Premature adrenarche, Decreased response to growth hormone stimulation ... ORPHA:177901
Mehmo Syndrome
Micropenis, Male hypogonadism, Decreased response to growth hormone stimulation test, Hypoplasia ... OMIM:300148
Premature Ovarian Failure 11
Secondary amenorrhea, Oligomenorrhea, Elevated circulating follicle stimulating hormone level OMIM:616946
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Gonadotropin deficiency, Adrenal hypoplasia, Cholestasis, Adrenocorticotro... OMIM:609734
Culler-Jones Syndrome
Diabetes insipidus, Hypogonadism, Anterior pituitary hypoplasia, Micropenis, Cryptorchidism, Hypo... OMIM:615849
Pseudohypoparathyroidism Type 1C
Elevated circulating parathyroid hormone level, Choroid plexus calcification, Oligomenorrhea, Cer... ORPHA:79444
Premature Ovarian Failure 10
Elevated circulating follicle stimulating hormone level, Azoospermia, Hypoplasia of the ovary, Pr... OMIM:612885
X-Linked Intellectual Disability, Cilliers Type
Hypospadias, Absence of secondary sex characteristics, Increased circulating gonadotropin level, ... ORPHA:163971
Estrogen Resistance Syndrome
Absence of pubertal development, Absence of secondary sex characteristics, Increased circulating ... ORPHA:785
Pituitary Gigantism
Type II diabetes mellitus, Increased serum insulin-like growth factor 1, Amenorrhea, Pituitary gr... ORPHA:99725
Wolfram-Like Syndrome
Male hypogonadism, Diabetes mellitus, Hypothyroidism, Central diabetes insipidus, Primary gonadal... ORPHA:411590
Ring Chromosome Y Syndrome
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Azoospermia, Gonadoblastoma,... ORPHA:261529
Frasier Syndrome
Gonadal dysgenesis with female appearance, male, Streak ovary, Gonadoblastoma, Decreased serum es... ORPHA:347
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Polyembryoma
Macroorchidism, Increased serum testosterone level, Gonadal neoplasm, Increased serum serotonin, ... ORPHA:180229
Plin1-Related Familial Partial Lipodystrophy
Infertility, Oligomenorrhea, Hepatic fibrosis, Insulin-resistant diabetes mellitus at puberty, Po... ORPHA:280356
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Decreased serum insulin-like growth factor 1, Anterior pituitary hypoplasia, Ectopic posterior pi... ORPHA:67045
Obesity Due To Congenital Leptin Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:66628
Perrault Syndrome 4
Secondary amenorrhea, Oligomenorrhea, Hypoplasia of the ovary, Increased circulating gonadotropin... OMIM:615300
Endocardial Fibroelastosis
Cryptorchidism, Hypoplasia of penis, Anterior hypopituitarism ORPHA:2022
49,Xxxyy Syndrome
External genital hypoplasia, Increased circulating gonadotropin level, Micropenis, Male hypogonad... ORPHA:261534
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased serum insulin-like growth factor 1, Abnormal size of pituitary gland, Nail dystrophy, A... ORPHA:293978
Prader-Willi-Like Syndrome
Hypoplastic labia minora, Premature adrenarche, Decreased inhibin B level, Anterior pituitary hyp... ORPHA:398073
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Decreased response to growth hormone stimulation test, Cerebral calcification OMIM:225755
Diabetes Insipidus, Neurohypophyseal
Central diabetes insipidus, Decreased circulating osteocalcin level OMIM:125700
Obesity Due To Leptin Receptor Gene Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:179494
Premature Ovarian Failure 14
Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated circulating follicle... OMIM:618014
Blepharophimosis, Ptosis, And Epicanthus Inversus
Highly arched eyebrow, Amenorrhea, Sparse pubic hair, Increased circulating gonadotropin level, F... OMIM:110100
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Magel2-Related Prader-Willi-Like Syndrome
Hypoplastic labia minora, Central hypothyroidism, Infertility, Type II diabetes mellitus, Xerosto... ORPHA:398069
Oocyte Maturation Defect 8
Female infertility OMIM:619009
46,Xy Partial Gonadal Dysgenesis
Hypospadias, Adrenal insufficiency, Elevated circulating follicle stimulating hormone level, Spar... ORPHA:251510
Combined Oxidative Phosphorylation Deficiency 25
Decreased response to growth hormone stimulation test, Cerebral atrophy OMIM:616430
Laryngeal Neuroendocrine Tumor
Neuroendocrine neoplasm, Inappropriate antidiuretic hormone secretion, Increased serum serotonin,... ORPHA:100083
Partial Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Hypospadias, Increased serum testosterone level, Aplasia o... ORPHA:90797
Joubert Syndrome 38
Small pituitary gland, Decreased response to growth hormone stimulation test, Decreased serum ins... OMIM:619476
Leptin Deficiency Or Dysfunction
Hypogonadism, Micropenis, Primary amenorrhea, Decreased serum leptin, Decreased testicular size OMIM:614962
Familial Hyperprolactinemia
Menorrhagia, Infertility, Oligomenorrhea, Hemorrhagic ovarian cyst, Amenorrhea, Female hypogonadism ORPHA:397685
Pseudohypoparathyroidism Type 1A
Elevated circulating parathyroid hormone level, Choroid plexus calcification, Oligomenorrhea, Cer... ORPHA:79443
Ovarian Dysgenesis 8
Hypoplastic labia majora, Elevated circulating luteinizing hormone level, Primary amenorrhea, Ele... OMIM:618187
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased testicular size, Elevated circulating f... OMIM:618086
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Primary amenorrhea, Delayed thelarche, Delayed puberty, Microcephaly OMIM:616033
Kallmann Syndrome
Hypoplasia of penis, Abnormal morphology of female internal genitalia, Hypogonadotropic hypogonad... ORPHA:478
4H Leukodystrophy
Hypogonadotropic hypogonadism, Abnormality of thyroid physiology, Striatal T2 hyperintensity, Dec... ORPHA:289494
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Azoospermia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation tes... ORPHA:280679
Pituitary Stalk Interruption Syndrome
Diabetes insipidus, Septo-optic dysplasia, Abnormality of the hypothalamus-pituitary axis, Adrena... ORPHA:95496
Paragangliomas 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Premature Ovarian Failure 2B
Primary amenorrhea, Premature ovarian insufficiency, Delayed puberty OMIM:300604
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Gonadal dysgenesis, Primary amenorrhea, Hypergonadotropic hypogonadism OMIM:607080
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypospadias, Elevated circulating follicle stimulating hormone level, Sparse pubic hair, Ambiguou... ORPHA:90796
Hyperthyroidism, Familial Gestational
Hyperthyroidism, Increased circulating T4 level, Decreased thyroid-stimulating hormone level OMIM:603373
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Decreased serum estradiol, Micropenis, Hypothalamic gonadotropin-releasi... OMIM:618841
Myasthenic Syndrome, Congenital, 22
Decreased response to growth hormone stimulation test OMIM:616224
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypospadias, Micropenis, Adrenal hypoplasia, Cryptorchidism, Decreased response to growth hormone... OMIM:614732
Ovarian Fibrothecoma
Abnormality of the endometrium, Abnormality of the ovary, Increased serum testosterone level, Hir... ORPHA:314478
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Azoospermia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation tes... OMIM:300845
Adrenocortical Carcinoma
Abnormality of reproductive system physiology, Increased urinary cortisol level, Increased circul... ORPHA:1501
Septopreoptic Holoprosencephaly
Perisylvian polymicrogyria, Megalencephaly, Abnormal corpus callosum morphology, Abnormality of t... ORPHA:280195
49,Xyyyy Syndrome
Azoospermia, External genital hypoplasia, Increased circulating gonadotropin level, Male hypogona... ORPHA:99330
Central Precocious Puberty
Abnormality of secondary sexual hair, Hypothalamic hamartoma, Increased circulating gonadotropin ... ORPHA:759
X-Linked Hypohidrotic Ectodermal Dysplasia
Type I diabetes mellitus, Hypohidrosis, Anterior hypopituitarism, Aplasia/Hypoplasia of the eyebr... ORPHA:181
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Abnormal penis morphology, Neoplasm of the breast, Goiter, Abnormality of the menstrual cycle, Po... ORPHA:457059
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Decreased response to growth hormone stimulation test OMIM:245590
Leukoencephalopathy With Vanishing White Matter
Secondary amenorrhea, Leukoencephalopathy, Primary amenorrhea, Premature ovarian insufficiency, D... OMIM:603896
Cortisone Reductase Deficiency 1
Hirsutism, Infertility, Oligomenorrhea, Precocious puberty OMIM:604931
Rhyns Syndrome
Abnormality of the liver, Hypopituitarism ORPHA:140976
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Ambiguous genitalia, Dysplastic corpus callosum, Anterior hypopituitarism OMIM:601016
47,Xyy Syndrome
Oligospermia, Macroorchidism, Increased serum testosterone level, Hypospadias, Azoospermia, Incre... ORPHA:8
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Decreased circulating T4 level, Decreased thyroid-stimulating hormone level, Abnormality of thyro... ORPHA:95715
Temple Syndrome
Cryptorchidism, Decreased response to growth hormone stimulation test, Type II diabetes mellitus,... ORPHA:254516
Ovarian Dysgenesis 2
Secondary amenorrhea, Hirsutism, Abnormality of the uterus, Primary amenorrhea, Premature ovarian... OMIM:300510
Hypotonia-Cystinuria Syndrome
Decreased response to growth hormone stimulation test, Long eyelashes, Hypergonadotropic hypogona... OMIM:606407
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Agenesis of corpus callosum, Microcephaly OMIM:615286
Alstrom Syndrome
Hepatomegaly, Chronic active hepatitis, Diabetes insipidus, Insulin-resistant diabetes mellitus, ... OMIM:203800
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Cerebral cortical atrophy, Amenorrhea, Premature ovarian insufficiency OMIM:619425
Hypothyroidism, Congenital, Nongoitrous, 9
Thyroid hypoplasia, Central hypothyroidism, Decreased circulating free T4 level, Inappropriately ... OMIM:301035
Microphthalmia, Syndromic 3
Hypospadias, Hypothalamic hamartoma, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia... OMIM:206900
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Secondary amenorrhea, Lacrimal gland aplasia, Highly arched eyebrow, Oligomenorrhea, Streak ovary... ORPHA:572333
Boomerang Dysplasia
Decreased response to growth hormone stimulation test, Cryptorchidism ORPHA:1263
Juberg-Hayward Syndrome
Highly arched eyebrow, Decreased response to growth hormone stimulation test, Microcephaly OMIM:216100
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Oligomenorrhea, Diabetes mellitus OMIM:613877
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency OMIM:300511
Maternal Uniparental Disomy Of Chromosome 2
Hypospadias, Chordee, Spontaneous abortion, Bilateral cryptorchidism, Hypothyroidism, Premature o... ORPHA:96179
Acth Deficiency, Isolated
Decreased circulating cortisol level, Adrenal hypoplasia, Cholestasis, Adrenocorticotropic hormon... OMIM:201400
Kearns-Sayre Syndrome
Anterior hypopituitarism ORPHA:480
Hypertriglyceridemia 1
Hypopituitarism OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypopituitarism OMIM:144600
Galactosemia
Secondary amenorrhea, Hepatomegaly, Oligomenorrhea, Decreased serum insulin-like growth factor 1,... ORPHA:352
Septo-Optic Dysplasia Spectrum
Maternal diabetes, Diabetes insipidus, Septo-optic dysplasia, Abnormality of the hypothalamus-pit... ORPHA:3157
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Oligomenorrhea, Hirsutism, Insulin-resistant diabetes mellitus, Polycystic ova... OMIM:604367
Galloway-Mowat Syndrome 6
Microcephaly, Decreased response to growth hormone stimulation test, Hypothyroidism OMIM:618347
Idiopathic Congenital Hypothyroidism
Prolonged neonatal jaundice, Elevated circulating thyroid-stimulating hormone concentration, Decr... ORPHA:95717
Short Stature-Wormian Bones-Dextrocardia Syndrome
Cryptorchidism, Long eyelashes, Midshaft hypospadias, Anterior hypopituitarism ORPHA:2863
African Trypanosomiasis
Abnormal prolactin level, Hepatomegaly, Infertility, Abnormality of renin-angiotensin system, Abn... ORPHA:3385
Retinal Dystrophy With Or Without Extraocular Anomalies
Secondary amenorrhea, Goiter, Premature ovarian insufficiency OMIM:617175
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Abnormal hair morphology, Decreased response to growth hormone stimulation test, Hypoplasia of pe... OMIM:601427
Classic Galactosemia
Secondary amenorrhea, Hepatomegaly, Oligomenorrhea, Decreased serum insulin-like growth factor 1,... ORPHA:79239
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Secondary amenorrhea, Type II diabetes mellitus, Polycystic ovaries, Hypergonadotropic hypogonadi... ORPHA:3085
Chromosome Xq26.3 Duplication Syndrome
Increased serum insulin-like growth factor 1, Pituitary adenoma, Hyperhidrosis, Hypopituitarism, ... OMIM:300942
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Hypogonadotropic hypogonadism, Micropenis, Primary amenorrhea, Diabetes mellitus, Cryptorchidism,... OMIM:610628
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, Hepatic st... ORPHA:79085
Aromatase Deficiency
Macroorchidism, postpubertal, Type II diabetes mellitus, Ambiguous genitalia, female, Hepatic ste... ORPHA:91
Pure Autonomic Failure
Abnormality of circulating catecholamine level, Anhidrosis, Impotence ORPHA:441
Boucher-Neuhauser Syndrome
Hypogonadotropic hypogonadism, Decreased circulating gonadotropin concentration OMIM:215470
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Macronodular adrenal hyperplasia, Abnormal response to corticotropin releasing hormone stimulatio... ORPHA:189427
Primary Pigmented Nodular Adrenocortical Disease
Adrenal hyperplasia, Cardiac myxoma, Increased urinary cortisol level, Type II diabetes mellitus,... ORPHA:189439
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, Pancreatit... ORPHA:435651
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Hypogonadism, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size OMIM:616030
Myotonic Dystrophy 2
Oligospermia, Frontal balding, Elevated circulating follicle stimulating hormone level, Hypogonad... OMIM:602668
Familial Thyroid Dyshormonogenesis
Congenital hypothyroidism, Goiter, Increased radioactive iodine uptake, Decreased circulating T4 ... ORPHA:95716
Noonan Syndrome 12
Decreased response to growth hormone stimulation test, Glabellar hemangioma OMIM:618624
Giant Axonal Neuropathy
Woolly hair, Pili canaliculi, Abnormality of the pituitary gland ORPHA:643
Paragangliomas 3
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Neoplasm, Chemodectoma, Hyperhidrosis, E... OMIM:605373
Mccune-Albright Syndrome
Increased serum testosterone level, Goiter, Increased circulating cortisol level, Hepatitis, Cuta... ORPHA:562
Hemochromatosis, Type 2A
Hepatomegaly, Infertility, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Splenomegaly, ... OMIM:602390
Silver-Russell Syndrome 1
Hypospadias, Urethral valve, Testicular seminoma, Craniopharyngioma, Hepatocellular carcinoma, Co... OMIM:180860
Xp22.3 Microdeletion Syndrome
Secondary amenorrhea, Hypogonadotropic hypogonadism, Polycystic ovaries, Decreased fertility ORPHA:1643
Acromelic Frontonasal Dysplasia
Hypoplasia of the olfactory bulb, Midline central nervous system lipomas, Anterior pituitary hypo... ORPHA:1827
Precocious Puberty, Central, 1
Hypothyroidism, Isosexual precocious puberty, Elevated circulating luteinizing hormone level, Ele... OMIM:176400
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Thick eyebrow ORPHA:436174
Pallister-Hall-Like Syndrome
Hypothalamic hamartoma, Glioma, Micropenis, Anterior hypopituitarism OMIM:241800
Myxedema
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Goiter, Hypohidrosis OMIM:255900
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Primary amenorrhea, Delayed puberty OMIM:618117
Paragangliomas 1
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Glomus tympanicum paraganglioma, Chemode... OMIM:168000
Triple A Syndrome
Adrenal insufficiency, Microcephaly, Anterior hypopituitarism ORPHA:869
Acrodysostosis 1 With Or Without Hormone Resistance
Elevated circulating parathyroid hormone level, Congenital hypothyroidism, Decreased growth hormo... OMIM:101800
Srd5A3-Cdg
Elevated hepatic transaminase, Decreased response to growth hormone stimulation test, Hypertricho... ORPHA:324737
Rhyns Syndrome
Decreased response to growth hormone stimulation test, Pituitary hypothyroidism, Anterior hypopit... OMIM:602152
Thyroid Hormone Resistance, Selective Pituitary
Impaired sensitivity to thyroid hormone, Hyperthyroidism, Elevated circulating thyroid-stimulatin... OMIM:145650
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypospadias, Increased serum testosterone level, Hirsutism, Premature adrenarche, Ambiguous genit... ORPHA:90791
Lig4 Syndrome
Myelodysplasia, Amenorrhea, Micropenis, Hypothyroidism, Cryptorchidism, Microcephaly OMIM:606593
Congenital Generalized Lipodystrophy
Hepatomegaly, Precocious puberty in females, Oligomenorrhea, Hypertrichosis, Amenorrhea, Low ante... ORPHA:528
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Decreased response to growth hormone stimulation test, Micropenis, Decreased testicular size, Mic... ORPHA:457240
Blue Diaper Syndrome
Elevated hepatic transaminase, Elevated circulating thyroid-stimulating hormone concentration, De... ORPHA:94086
Rajab Interstitial Lung Disease With Brain Calcifications 2
Periventricular cysts, Hepatic steatosis, Hepatosplenomegaly, Hypothyroidism, Hypopituitarism, El... OMIM:619013
Prader-Willi Syndrome
Hypoplastic labia minora, Clitoral hypoplasia, Adrenal insufficiency, Infertility, Oligomenorrhea... OMIM:176270
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency
Hypospadias, Hodgkin lymphoma, Congenital adrenal hypoplasia, Bilateral cryptorchidism, Micropeni... OMIM:618336
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Abnormality of the Leydig cells, Aplasia of the uterus, Elevated circulating follicle stimulating... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Abnormality of the Leydig cells, Aplasia of the uterus, Elevated circulating follicle stimulating... ORPHA:289548
Normosmic Congenital Hypogonadotropic Hypogonadism
Secondary amenorrhea, Azoospermia, Sparse body hair, Hypogonadotropic hypogonadism, Absence of pu... ORPHA:432
46,Xy Sex Reversal 3
Sex reversal, Elevated circulating follicle stimulating hormone level, Penoscrotal hypospadias, E... OMIM:612965
Woodhouse-Sakati Syndrome
Streak ovary, Insulin-resistant diabetes mellitus, Alopecia, Hypoplasia of the fallopian tube, De... ORPHA:3464
Hemochromatosis, Type 1
Testicular atrophy, Hepatomegaly, Amenorrhea, Azoospermia, Hepatocellular carcinoma, Hypogonadotr... OMIM:235200
Hemochromatosis, Type 2B
Secondary amenorrhea, Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hypogonadism, Cirrhosis, Elev... OMIM:613313
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, Hepatic st... ORPHA:435660
Estrogen Resistance
Hyperinsulinemia, Primary amenorrhea, Hypoplasia of the uterus OMIM:615363
Fg Syndrome Type 1
Hypospadias, Small pituitary gland, Aplasia/Hypoplasia of the corpus callosum, Cryptorchidism, Fr... ORPHA:93932
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased serum testosterone level, Hirsutism, Premature adrenarche, Ambiguous genitalia, female,... ORPHA:90795
Woodhouse-Sakati Syndrome
Fine hair, Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Alopecia,... OMIM:241080
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Secondary amenorrhea, Hypergonadotropic hypogonadism, Insulin-resistant diabetes mellitus, Polycy... OMIM:268020
Fanconi Anemia, Complementation Group W
Myelodysplasia, Abnormal periventricular white matter morphology, Decreased response to growth ho... OMIM:617784
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Congenital hypothyroidism, Goiter, Decreased circulating T4 level, Elevated circulating thyroid-s... ORPHA:226313
Polycystic Ovary Syndrome 1
Hirsutism, Enlarged polycystic ovaries, Oligomenorrhea, Amenorrhea OMIM:184700
Webb-Dattani Syndrome
Diabetes insipidus, Decreased response to growth hormone stimulation test, Pituitary hypothyroidi... OMIM:615926
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome, Ambiguous genitalia, Primary amenorrhea, Male pseudo... OMIM:202110
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hirsutism, Splenomegaly, Hepatic steatosis, Hepatosplenomegaly, Primary amenorrhea,... OMIM:612526
Hidrotic Ectodermal Dysplasia, Halal Type
Absent eyebrow, Absent eyelashes, Sparse scalp hair, Irregular menstruation, Trichodysplasia, Spa... ORPHA:1809
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating follicle stimulating hormone level, Sparse pubic hair, Type I diabetes melli... ORPHA:3044
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Renal angiomyolipoma,... ORPHA:276152
Perrault Syndrome 6
Secondary amenorrhea, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Irregula... OMIM:617565
Pseudohypoparathyroidism Type 1B
Elevated circulating parathyroid hormone level, Decreased response to growth hormone stimulation ... ORPHA:94089
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Adrenocorticotropic hormone deficiency, Hepatitis, Decreased circulating ACTH... ORPHA:199299
Pallister-Hall Syndrome
Abnormal prolactin level, Hypospadias, Arrhinencephaly, Thyroid hypoplasia, Adrenal hypoplasia, M... ORPHA:672
Congenital Hypothyroidism
Abnormality of reproductive system physiology, Abnormal hair morphology, Prolonged neonatal jaund... ORPHA:442
Vipoma
Increased circulating cortisol level, Primary hyperparathyroidism, Diabetes mellitus, Intrahepati... ORPHA:97282
Williams-Beuren Region Duplication Syndrome
Long eyelashes, Horizontal eyebrow, Cryptorchidism, Decreased response to growth hormone stimulat... OMIM:609757
Asherman Syndrome
Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc... ORPHA:137686
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Hepatomegaly, Infertility, Cholangiocarcinoma, Amenorrhea, Hepatocellular car... ORPHA:465508
Thymic Neuroendocrine Tumor
Neuroendocrine neoplasm, Neoplasm of the thymus, Increased circulating cortisol level, Pituitary ... ORPHA:97289
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Hypospadias, Hypertrichosis, Small pituitary gland, Micropenis, Dilation of lateral ventricles, H... OMIM:619479
Isolated Exencephaly
Anterior pituitary hypoplasia, Maternal diabetes, Agenesis of corpus callosum, Posterior pituitar... ORPHA:563612
Generalized Glucocorticoid Resistance Syndrome
Oligospermia, Adrenal hyperplasia, Decreased circulating aldosterone level, Infertility, Oligomen... ORPHA:786
Deeah Syndrome
Hepatomegaly, Decreased circulating free T3, Decreased circulating free T4 level, Anterior pituit... OMIM:619004
Ppoma
Adrenocortical adenoma, Hepatomegaly, Increased circulating cortisol level, Neoplasm of the pancr... ORPHA:97278
Pparg-Related Familial Partial Lipodystrophy
Secondary amenorrhea, Hepatomegaly, Maternal diabetes, Dysmenorrhea, Oligomenorrhea, Insulin-resi... ORPHA:79083
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Female infertility, Premature ovarian insufficiency OMIM:619518
Grfoma
Neoplasm of the thymus, Increased circulating cortisol level, Neoplasm of the small intestine, In... ORPHA:97261
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... ORPHA:79644
Hydranencephaly
Abnormal corpus striatum morphology, Atrophic pituitary gland, Thalamic edema, Dysgenesis of the ... ORPHA:2177
Mpdu1-Cdg
Decreased response to growth hormone stimulation test, Decreased serum insulin-like growth factor 1 ORPHA:79323
Hemochromatosis, Type 3
Amenorrhea, Hypogonadotropic hypogonadism, Cirrhosis, Impotence, Elevated hepatic transaminase OMIM:604250
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Congenital hypoparathyroidism, Decreased response to growth hormone stimulation test, Micropenis,... OMIM:241410
Pituitary Adenoma 2, Growth Hormone-Secreting
Pituitary adenoma, Elevated circulating growth hormone concentration OMIM:300943
Genetic Transient Congenital Hypothyroidism
Goiter, Thyroid hypoplasia, Decreased circulating T4 level, Elevated circulating thyroid-stimulat... ORPHA:226316
Hypothyroidism, Congenital, Nongoitrous, 1
Thyroid hypoplasia, Elevated circulating thyroid-stimulating hormone concentration, Congenital hy... OMIM:275200
Ichthyosis And Male Hypogonadism
Gonadotropin deficiency, Hypogonadotropic hypogonadism, Male hypogonadism OMIM:308200
Immunodeficiency, Common Variable, 10
Abnormal response to ACTH stimulation test, Central adrenal insufficiency, Alopecia totalis, Decr... OMIM:615577
Multiple Endocrine Neoplasia, Type I
Adrenocortical adenoma, Zollinger-Ellison syndrome, Adenoma sebaceum, Increased circulating corti... OMIM:131100
Carney Complex, Type 1
Thyroid follicular hyperplasia, Cardiac myxoma, Thyroid carcinoma, Hirsutism, Myxoid subcutaneous... OMIM:160980
Ritscher-Schinzel Syndrome 1
Hypospadias, Low posterior hairline, Adrenal hypoplasia, Decreased response to growth hormone sti... OMIM:220210
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Elevated circulating growth hormone concentration, Macroorchidism, Decreased serum insulin-like g... ORPHA:85327
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Increased serum testosterone level, Abnormal vagina morphology, Hirsuti... ORPHA:247768
Igg4-Related Thyroid Disease
Goiter, Retroperitoneal fibrosis, Nodular goiter, Abnormality of the pituitary gland, Euthyroid g... ORPHA:64744
Hypothyroidism Due To Tsh Receptor Mutations
Impaired sensitivity to thyroid stimulating hormone, Congenital hypothyroidism, Thyroid hypoplasi... ORPHA:90673
46,Xx Sex Reversal 1
Hypospadias, True hermaphroditism, Sex reversal, Elevated circulating follicle stimulating hormon... OMIM:400045
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Enteroviral hepatitis, Prostatitis, Epididymitis, Decreased response to growth hormone stimulatio... OMIM:307200
Nelson Syndrome
Increased urinary cortisol level, Type II diabetes mellitus, Diabetes insipidus, Increased circul... ORPHA:199244
Isolated Thyroid-Stimulating Hormone Deficiency
Macroorchidism, Goiter, Thyroid hypoplasia, Pituitary hypothyroidism, Decreased thyroid-stimulati... ORPHA:90674
Hydatidiform Mole, Recurrent, 4
Recurrent spontaneous abortion, Female infertility OMIM:618432
Somatostatinoma
Adrenocortical adenoma, Hepatomegaly, Gallbladder dysfunction, Increased circulating cortisol lev... ORPHA:97283
Multiple Endocrine Neoplasia Type 1
Thyroid carcinoma, Meningioma, Goiter, Gingival fibromatosis, Increased circulating cortisol leve... ORPHA:652
Testicular Agenesis
Vanishing testis, Urethrovaginal fistula, Absent testis, Increased circulating gonadotropin level... ORPHA:325124
Mccune-Albright Syndrome
Increased circulating cortisol level, Pituitary adenoma, Hyperthyroidism, Hyperparathyroidism, In... OMIM:174800
Acromelic Frontonasal Dysostosis
Lipoma, Hypopituitarism, Cryptorchidism, Hypoplasia of the corpus callosum, Agenesis of corpus ca... OMIM:603671
Hydatidiform Mole
Hyperthyroidism, Spontaneous abortion, Menometrorrhagia, Enlarged uterus ORPHA:99927
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Decreased testicular size, Primary amenorrhea OMIM:614858
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Abnormality of the anterior pituitary, Posterior pituitary hypoplasia, Nail dystrophy, Brittle ha... ORPHA:75389
Pituitary Adenoma 4, Acth-Secreting
Pituitary adenoma, Hirsutism, Increased circulating ACTH level, Oligomenorrhea OMIM:219090
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Congenital hypothyroidism, Cholesteatoma, Gonadotropin deficiency, Elevated circulating thyroid-s... OMIM:610978
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating progesterone, Increased serum testosterone level, Aplasia of the uterus, Hy... ORPHA:90794
Perrault Syndrome 3
Hypoplasia of the uterus, Primary amenorrhea, Microcephaly, Hypergonadotropic hypogonadism OMIM:614129
Oocyte Maturation Defect 10
Female infertility, Spontaneous abortion OMIM:619176
Ring Chromosome 21 Syndrome
Infertility, Diabetes insipidus, Amenorrhea, Azoospermia, Microcephaly ORPHA:1445
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Hypogonadotropic hypogonadism, Micropenis, Primary amenorrhea, Cryptorchidism OMIM:244200
Solitary Median Maxillary Central Incisor
Decreased response to growth hormone stimulation test, Microcephaly, Anterior hypopituitarism OMIM:147250
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Azoospermia, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size OMIM:614897
Satoyoshi Syndrome
Abnormality of the ovary, Abnormal hair morphology, Amenorrhea, Hypoplasia of the ovary, Abnormal... ORPHA:3130
Somatomammotropinoma
Dysmenorrhea, Amenorrhea, Pituitary growth hormone cell adenoma, Synophrys, Hypogonadotropic hypo... ORPHA:314769
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Panhypopituitarism, Hippocampal atrophy, Hypothyroidism, Cerebral atrophy, Decreased response to ... OMIM:618922
Premature Ovarian Failure 5
Secondary amenorrhea, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Premature ovaria... OMIM:611548
Multiple Endocrine Neoplasia, Type Iv
Pancreatic endocrine tumor, Hashimoto thyroiditis, Carcinoma, Pituitary adenoma, Carcinoid tumor,... OMIM:610755
Holoprosencephaly 9
Abnormal cortical gyration, Partial agenesis of the corpus callosum, Anterior pituitary agenesis,... OMIM:610829
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Acrodysostosis With Multiple Hormone Resistance
Elevated circulating parathyroid hormone level, Hypospadias, Congenital hypothyroidism, Hypogonad... ORPHA:280651
Intellectual Disability-Strabismus Syndrome
Hypospadias, Highly arched eyebrow, Decreased serum insulin-like growth factor 1, Micropenis, Hyp... ORPHA:363528
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Infertility, Oligomenorrhea, Type II diabetes mellitus, Alopecia, Pancreatitis, Hypogonadism, Cor... ORPHA:412057
Gray Platelet Syndrome
Abnormality of the menstrual cycle, Myelodysplasia, Splenomegaly ORPHA:721
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypospadias, Bifid scrotum, Ambiguous genitalia, female, Urogenital sinus anomaly, Ambiguous geni... ORPHA:1772
Aarskog-Scott Syndrome
Testicular atrophy, Elevated circulating follicle stimulating hormone level, Bilateral cryptorchi... OMIM:305400
Cohen Syndrome
Thick corpus callosum, Thick eyebrow, Decreased response to growth hormone stimulation test, Dela... OMIM:216550
15Q24 Microdeletion Syndrome
Hypospadias, Broad eyebrow, Decreased response to growth hormone stimulation test, High anterior ... ORPHA:94065
16P12.1P12.3 Triplication Syndrome
Abnormality of the intrahepatic bile duct, Decreased response to growth hormone stimulation test,... ORPHA:485405
Prader-Willi Syndrome Due To Translocation
Hypogonadotropic hypogonadism, External genital hypoplasia, Anterior pituitary hypoplasia, Dilati... ORPHA:177907
Holoprosencephaly 5
Central diabetes insipidus, Dilation of lateral ventricles, Microcephaly, Synophrys OMIM:609637
Gomez-Lopez-Hernandez Syndrome
Decreased response to growth hormone stimulation test, Alopecia OMIM:601853
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
Decreased response to growth hormone stimulation test, Numerous nevi OMIM:264475
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Hirsutism, Insulin-resistant diabetes mellitus, Polycystic ovaries, Elevated circulating growth h... ORPHA:90301
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Adrenal insufficiency, Sex reversal, Adrenocorticotropic hormone excess, Hyperaldosteronism OMIM:613743
Acromegaly
Dysmenorrhea, Long penis, Pituitary growth hormone cell adenoma, Hypogonadotropic hypogonadism, A... ORPHA:963
Carney Complex
Oligospermia, Thyroid carcinoma, Hirsutism, Sertoli cell neoplasm, Gonadal neoplasm, Neoplasm of ... ORPHA:1359
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea OMIM:614839
Proprotein Convertase 1/3 Deficiency
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating cortisol level OMIM:600955
Fanconi Anemia, Complementation Group I
Colpocephaly, Absent septum pellucidum, Hypothyroidism, Decreased response to growth hormone stim... OMIM:609053
14Q22Q23 Microdeletion Syndrome
Diabetes insipidus, Small scrotum, Abnormality of the hypothalamus-pituitary axis, Adrenal hypopl... ORPHA:264200
Autoimmune Polyendocrinopathy Type 3
Autoimmune hypoparathyroidism, Aplasia/Hypoplasia of the spleen, Xerostomia, Alopecia, Hepatitis,... ORPHA:227982
Primary Lipodystrophy
Type II diabetes mellitus, Polycystic ovaries, Menometrorrhagia, Pancreatitis, Splenomegaly, Cirr... ORPHA:90970
46,Xy Sex Reversal 5
Sex reversal, Elevated circulating follicle stimulating hormone level OMIM:613080
Ulnar-Mammary Syndrome
Imperforate hymen, Hypoplastic nipples, Axillary apocrine gland hypoplasia, Sparse lateral eyebro... OMIM:181450
Zollinger-Ellison Syndrome
Increased circulating cortisol level, Pituitary corticotropic cell adenoma, Jaundice, Neuroendocr... ORPHA:913
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Dysmenorrhea, Oligomenorrhea, Portal fibrosis, Hepatic fibrosis, Hepatocellular car... ORPHA:370
Premature Ovarian Failure 3
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Ovarian Hyperstimulation Syndrome
Increased serum testosterone level, Hemorrhagic ovarian cyst, Hirsutism, Increased circulating go... ORPHA:64739
Allan-Herndon-Dudley Syndrome
Microcephaly, Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism OMIM:300523
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Menorrhagia, Oligomenorrhea, Hirsutism, Amenorrhea, Polycystic ovaries,... ORPHA:2795
Autoimmune Polyendocrinopathy Type 4
Aplasia/Hypoplasia of the spleen, Xerostomia, Alopecia, Hepatitis, Thymoma, Type I diabetes melli... ORPHA:227990
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Pancreatic hypoplasia, Alopecia of scalp, Azoospermia, Retroperitoneal fibrosis, Sp... OMIM:602782
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Hypothyroidism, Decreased response to growth hormone stimulation test, Hypoplasia of the corpus c... OMIM:619234
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Absence of Stensen duct, Sparse eyelashes, Hypoplastic nipples, Urethral stenosis, Sparse axillar... OMIM:604292
Helsmoortel-Van Der Aa Syndrome
High anterior hairline, Decreased response to growth hormone stimulation test OMIM:615873
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Thick eyebrow, Central adrenal insufficiency, Decreased response to growth hormone stimulation te... OMIM:616007
Glucagonoma
Adrenocortical adenoma, Hepatomegaly, Increased circulating cortisol level, Neoplasm of the pancr... ORPHA:97280
Isolated Biliary Atresia
Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Atretic gallbladder, Bile duct proli... ORPHA:30391
Peripheral Primitive Neuroectodermal Tumor
Ovarian neoplasm, Brain neoplasm, Neoplasm of the pancreas, Metrorrhagia, Pancreatitis, Periphera... ORPHA:370348
Mullerian Aplasia And Hyperandrogenism
Aplasia/Hypoplasia of the fallopian tube, Aplasia of the uterus, Hirsutism, Amenorrhea, Abnormali... OMIM:158330
Von Hippel-Lindau Disease
Adrenal pheochromocytoma, Pancreatic endocrine tumor, Retinal capillary hemangioma, Pancreatic cy... ORPHA:892
Dyrk1A-Related Intellectual Disability Syndrome
Hypospadias, Primary microcephaly, Microcephaly, Anterior pituitary hypoplasia, Hypoplasia of the... ORPHA:464306
Premature Aging Syndrome, Penttinen Type
Elevated circulating thyroid-stimulating hormone concentration, Sparse hair OMIM:601812
Microform Holoprosencephaly
Maternal diabetes, Hemangioma, Ambiguous genitalia, Panhypopituitarism, Hypothyroidism, Hypoplasi... ORPHA:280200
Diethylstilbestrol Syndrome
Testicular dysgenesis, Hypospadias, Abnormal reproductive system morphology, Breast carcinoma, Ab... ORPHA:1916
Dominant Beta-Thalassemia
Adrenal insufficiency, Hypoparathyroidism, Hepatic fibrosis, Hepatocellular carcinoma, Splenomega... ORPHA:231226
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Oligospermia, Increased circulating progesterone, Adrenal hyperplasia, Hypospadias, Hirsutism, Fu... ORPHA:95699
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Highly arched eyebrow, Elevated circulating follicle stimulating hormone level, Sparse eyebrow, S... OMIM:618419
Turner Syndrome Due To Structural X Chromosome Anomalies
Secondary amenorrhea, Female infertility, Premature ovarian insufficiency, Low posterior hairline... ORPHA:99413
Turner Syndrome
Secondary amenorrhea, Female infertility, Premature ovarian insufficiency, Low posterior hairline... ORPHA:881
Mosaic Monosomy X
Secondary amenorrhea, Female infertility, Premature ovarian insufficiency, Low posterior hairline... ORPHA:99228
Monosomy X
Secondary amenorrhea, Female infertility, Premature ovarian insufficiency, Low posterior hairline... ORPHA:99226
Lead Poisoning
Oligospermia, Abnormal sperm morphology, Decreased circulating osteocalcin level, Infertility, Re... ORPHA:330015
Slc35A2-Cdg
Cerebral white matter atrophy, Cortical dysplasia, Abnormal cerebral white matter morphology, Ele... ORPHA:356961
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Dysmenorrhea, Oligomenorrhea, Portal fibrosis, Hepatic fibrosis, Polycystic ovaries... ORPHA:264580
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Absence of Stensen duct, Sparse eyelashes, Hypoplastic nipples, Sparse axillary hair, Xerostomia,... OMIM:129900
Acrootoocular Syndrome
Decreased response to growth hormone stimulation test, Microcephaly ORPHA:2980
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Hypoplasia of the corpus callosum, Agenesi... OMIM:617260
Klippel-Trénaunay Syndrome
Hemangioma, Hepatomegaly, Abnormality of the menstrual cycle, Microcephaly ORPHA:90308
Beta-Thalassemia Major
Hepatomegaly, Adrenal insufficiency, Hypoparathyroidism, Hepatic fibrosis, Hepatocellular carcino... ORPHA:231214
Diabetes Insipidus, Neurohypophyseal, X-Linked
Central diabetes insipidus OMIM:304900
Duplication Of The Pituitary Gland
Abnormal hypothalamus morphology, Abnormality of the pituitary gland, Teratoma, Agenesis of corpu... ORPHA:314621
Snakebite Envenomation
Hypopituitarism ORPHA:449285
Fanconi Anemia, Complementation Group F
Cryptorchidism, Decreased response to growth hormone stimulation test, Microphallus, Microcephaly OMIM:603467
Spondyloenchondrodysplasia
Abnormal periventricular white matter morphology, Hepatitis, Enchondroma, Abnormal lateral ventri... ORPHA:1855
Aromatase Deficiency
Female pseudohermaphroditism, Primary amenorrhea, Ovarian cyst, Hypergonadotropic hypogonadism OMIM:613546
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Low anterior hairline, Hashimoto thyroiditis, Decreased response to growth ho... OMIM:618223
Steinert Myotonic Dystrophy
Neoplasm of the skin, Hypergonadotropic hypogonadism, Endometrial carcinoma, Brain neoplasm, Chor... ORPHA:273
Glucocorticoid Resistance, Generalized
Irregular menstruation, Infertility, Hirsutism OMIM:615962
Pallister-Hall Syndrome
Hypothalamic hamartoma, Midline facial capillary hemangioma, Decreased testicular size, Adrenal h... OMIM:146510
Van Esch-O'Driscoll Syndrome
Cerebral atrophy, Microcephaly, Increased circulating gonadotropin level OMIM:301030
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome
Poliosis, Highly arched eyebrow, Sparse eyelashes, Low anterior hairline, Synophrys, Low posterio... OMIM:213980
Meier-Gorlin Syndrome 6
Hypoplastic labia majora, Decreased response to growth hormone stimulation test, Simplified gyral... OMIM:616835
Chromosome 18Q Deletion Syndrome
Hypospadias, Low anterior hairline, Decreased response to growth hormone stimulation test, Microp... OMIM:601808
Tbck-Related Intellectual Disability Syndrome
Central adrenal insufficiency, Hirsutism, Decreased response to growth hormone stimulation test, ... ORPHA:488632
Pycnodysostosis
Decreased response to growth hormone stimulation test, Cerebral dysmyelination, Hepatosplenomegal... ORPHA:763
Gestational Choriocarcinoma
Choriocarcinoma, Spontaneous abortion, Metrorrhagia, Neoplasm, Trophoblastic tumor ORPHA:99926
Igg4-Related Ophthalmic Disease
Cholangitis, Neoplasm of the lung, Abnormality of the anterior pituitary, Prostatitis, Retroperit... ORPHA:449563
Acrodysostosis
Hypogonadism, Irregular menstruation, Cryptorchidism, Abnormality of female external genitalia ORPHA:950
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Hirsutism, Insulin-resistant diabetes mellitus at puberty, Polycystic ovaries, Labi... OMIM:269700
Cushing Disease
Adrenal hyperplasia, Secondary amenorrhea, Increased urinary cortisol level, Oligomenorrhea, Hirs... ORPHA:96253
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Hydrocolpos, Dysmenorrhea, Metrorrhagia, Uterus didelphys, Dyspareunia, Partial vaginal septum, A... ORPHA:3411
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Central hypothyroidism, Elevated hepatic transaminase, Ganglioneuroblastoma, Premature adrenarche... ORPHA:293987
Frontorhiny
Diabetes insipidus, Pericallosal lipoma, Aplasia/Hypoplasia of the corpus callosum, Hypopituitari... ORPHA:391474
Eec Syndrome
Fine hair, Hypospadias, Xerostomia, Urethral atresia, Hypoplasia of the thymus, Nail dystrophy, C... ORPHA:1896
Mosaic Variegated Aneuploidy Syndrome 2
Microcephaly, Decreased response to growth hormone stimulation test, Sparse hair, Hypothyroidism OMIM:614114
Wilson Disease
Hepatomegaly, Abnormality of the menstrual cycle, Hepatitis, Acute hepatitis, Splenomegaly, Cirrh... ORPHA:905
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Hirsutism, Insulin-resistant diabetes mellitus at puberty, Polycystic ovaries, Labi... OMIM:608594
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hirsutism, Thyroid hypoplasia, Decreased response to growth hormone stimulation test, Micropenis,... OMIM:619503
Familial Adenomatous Polyposis
Neoplasm of the adrenal gland, Neoplasm of the gallbladder, Cholangiocarcinoma, Goiter, Astrocyto... ORPHA:733
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Dysmenorrhea, Oligomenorrhea, Hepatic fibrosis, Hepatocellular carcinoma, Polycysti... ORPHA:79240
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hypospadias, Chordee, Posterior pituitary hypoplasia, Abnormality of the endocrine system, Microc... ORPHA:268261
Xq21 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Pituitary hypothyroidism, Anterior hypopit... ORPHA:1435
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypothyroidism, Hypopituitarism ORPHA:90065
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Hypospadias, Premature adrenarche, Hyperhidrosis, Cryptorchidism, Decreased response to growth ho... ORPHA:96182
Peritoneal Cystic Mesothelioma
Menorrhagia, Peritonitis, Metrorrhagia, Neoplasm, Dyspareunia ORPHA:168816
Luscan-Lumish Syndrome
High anterior hairline, Irregular menstruation, Polycystic ovaries, Hirsutism OMIM:616831
Schimke Immunoosseous Dysplasia
Fine hair, Elevated circulating thyroid-stimulating hormone concentration, Coarse hair OMIM:242900
Seckel Syndrome 10
Elevated circulating follicle stimulating hormone level, Hepatic steatosis, Elevated circulating ... OMIM:617253
Placental Site Trophoblastic Tumor
Spontaneous abortion, Metrorrhagia, Amenorrhea ORPHA:99928
Brain-Lung-Thyroid Syndrome
Hypospadias, Hypoparathyroidism, Congenital hypothyroidism, Thyroid hemiagenesis, Cavum septum pe... ORPHA:209905
Hartsfield Syndrome
Hypospadias, Diabetes insipidus, Gonadotropin deficiency, Micropenis, Cryptorchidism, Agenesis of... OMIM:615465
H Syndrome
Hypertrichosis, Amenorrhea, Azoospermia, Alopecia, Abnormal eyebrow morphology, Hypogonadism, Hep... ORPHA:168569
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Aplasia of the uterus, Uterus didelphys, Septate vagina, Primary amenorrhea, ... OMIM:146255
Shwachman-Diamond Syndrome
Hepatomegaly, Pancreatic hypoplasia, Myelodysplasia, Leukemia, Acute myeloid leukemia, Diabetes m... ORPHA:811
Primary Ciliary Dyskinesia
Asplenia, Abnormal sperm motility, Female infertility, Male infertility, Polysplenia ORPHA:244
Wolfram Syndrome 2
Oligomenorrhea, Primary amenorrhea, Diabetes mellitus OMIM:604928
Monosomy 18Q
Diffuse white matter abnormalities, Astrocytoma, Low anterior hairline, Secondary growth hormone ... ORPHA:1600
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Dysplastic corpus callosum, Anterior pituitary hypoplasia, Bilateral cryptorchidism, Cryptorchidi... ORPHA:466791
Wiedemann-Steiner Syndrome
Long eyelashes, Abnormal corpus callosum morphology, Congenital, generalized hypertrichosis, Thic... ORPHA:319182
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Secondary amenorrhea, Hirsutism, Atypical pulmonary carcinoid tumor, Small i... ORPHA:99889
Pearson Syndrome
Hepatomegaly, Adrenal insufficiency, Hypoparathyroidism, Macronodular cirrhosis, Hypoplastic sple... ORPHA:699
46,Xy Sex Reversal 7
Gonadal dysgenesis, male, Sex reversal, Streak ovary, Gonadoblastoma, Hypoplasia of the fallopian... OMIM:233420
Hypothyroidism, Congenital, Nongoitrous, 2
Ectopic thyroid, Congenital hypothyroidism, Goiter, Thyroid hypoplasia, Elevated circulating thyr... OMIM:218700
Gabriele-De Vries Syndrome
Neuroblastoma, Sparse eyebrow, Hypoplasia of the corpus callosum, Hypothyroidism, Abnormal cerebr... ORPHA:506358
Igg4-Related Kidney Disease
Abnormality of the anterior pituitary, Abnormality of mesentery morphology, Lymphocytoma cutis, P... ORPHA:449395
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Hypertrichosis, Elevated hepatic transaminase, Epididymitis, Parotitis, Splenomegal... OMIM:256040
Holoprosencephaly
Highly arched eyebrow, Abnormality of the spleen, Diabetes insipidus, Panhypopituitarism, Diabete... ORPHA:2162
Malakoplakia
Prostate neoplasm, Neoplasm of the rectum, Abnormality of the menstrual cycle, Neoplasm of the co... ORPHA:556
Alström Syndrome
Oligospermia, Hirsutism, Hepatitis, Splenomegaly, Elevated circulating thyroid-stimulating hormon... ORPHA:64
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hepatomegaly, Diabetes insipidus, Hepatic fibrosis, Congenital hepatic fibrosis, Bile duct prolif... OMIM:619534
Microphthalmia, Syndromic 6
Hypospadias, Bifid scrotum, Small scrotum, Abnormality of the hypothalamus-pituitary axis, Abnorm... OMIM:607932
Semilobar Holoprosencephaly
Central hypothyroidism, Abnormal morphology of the olfactory bulb, Agenesis of corpus callosum, D... ORPHA:220386
Alobar Holoprosencephaly
Central hypothyroidism, Abnormal morphology of the olfactory bulb, Agenesis of corpus callosum, D... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central hypothyroidism, Abnormal morphology of the olfactory bulb, Agenesis of corpus callosum, D... ORPHA:93926
Lobar Holoprosencephaly
Central hypothyroidism, Abnormal morphology of the olfactory bulb, Agenesis of corpus callosum, D... ORPHA:93924
Holoprosencephaly 7
Fusion of the left and right thalami, Panhypopituitarism, Agenesis of corpus callosum OMIM:610828
Interstitial Cystitis
Abnormal vagina morphology, Abnormality of the menstrual cycle, Abnormal labia morphology, Dyspar... ORPHA:37202
Cockayne Syndrome A
Hepatomegaly, Thymic hormone decreased, Dry hair, Splenomegaly, Hypogonadism, Micropenis, Anhidro... OMIM:216400
Autosomal Dominant Kenny-Caffey Syndrome
Basal ganglia calcification, Congenital hypoparathyroidism, Decreased testicular size, Abnormal c... ORPHA:93325
Axenfeld-Rieger Syndrome, Type 1
Hypospadias, Decreased response to growth hormone stimulation test OMIM:180500
Koolen-De Vries Syndrome Due To A Point Mutation
Hypospadias, Pineal cyst, Hemangioma, Numerous nevi, Alopecia, Primary adrenal insufficiency, Mel... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hypospadias, Pineal cyst, Hemangioma, Numerous nevi, Alopecia, Primary adrenal insufficiency, Mel... ORPHA:363958
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Menorrhagia, Hepatocellular carcinoma, Increased hepatic glycogen content, Polycyst... ORPHA:79259
Charge Syndrome
Highly arched eyebrow, Bifid scrotum, Abnormal morphology of female internal genitalia, Labial hy... ORPHA:138
Witteveen-Kolk Syndrome
Fine hair, Hypospadias, Dysplastic corpus callosum, Medial flaring of the eyebrow, Micropenis, Cr... OMIM:613406
Wiedemann-Rautenstrauch Syndrome
Hypospadias, Increased serum testosterone level, Abnormal corpus striatum morphology, Type II dia... ORPHA:3455
Holoprosencephaly 3
Central diabetes insipidus, Microcephaly OMIM:142945
Charge Syndrome
Hypoparathyroidism, Arrhinencephaly, Labial hypoplasia, Hypogonadotropic hypogonadism, External g... OMIM:214800
Lysinuric Protein Intolerance
Hepatomegaly, Pancreatitis, Hepatic amyloidosis, Cirrhosis, Hepatosplenomegaly, Hepatic failure, ... ORPHA:470
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypospadias, Highly arched eyebrow, Long eyelashes, Curly hair, Thick hair, Thick eyebrow, Hypoth... ORPHA:444077
Holoprosencephaly 2
Diabetes insipidus, Anterior pituitary agenesis, Adrenal hypoplasia, Agenesis of corpus callosum,... OMIM:157170
Wiskott-Aldrich Syndrome
Acute leukemia, Abnormality of the menstrual cycle, Chronic leukemia, Hypoplasia of the thymus, N... ORPHA:906
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Posterior pituitary hypoplasia, Microcephaly, Micropenis, Cryptorchidism, Hypoplasia... ORPHA:464311
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Abnormality of the anterior pituitary, Hyperintensity of cerebral white matter on MRI, Abnormalit... ORPHA:438213
Angioosteohypertrophic Syndrome
Cavernous hemangioma, Visceral angiomatosis, Abnormality of the menstrual cycle, Microcephaly, Mu... ORPHA:2346
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Pancreatic hypoplasia, Congenital hypothyroidism, Aplasia/Hypoplasia of the gallbladder, Anterior... ORPHA:2255
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Amenorrhea, Hypoplasia of the uterus OMIM:277000
Hymen, Imperforate
Hydrocolpos, Imperforate hymen, Amenorrhea, Hematocolpos OMIM:237100
Pmm2-Cdg
Hyperplastic labia majora, Hepatic fibrosis, Hypogonadotropic hypogonadism, Abnormal liver parenc... ORPHA:79318
Peters Plus Syndrome
Hypospadias, Congenital hypothyroidism, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, ... ORPHA:709
Hypermobile Ehlers-Danlos Syndrome
Cystocele, Abnormality of the menstrual cycle, Decreased fertility ORPHA:285

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Prl

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Prl.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
56th EASD Annual Meeting of the European Association for the Study of Diabetes : 21-25 September 2020. Diabetologia (August 2020) Prlrtm1a(EUCOMM)Hmgu PMC7445463
Origin of a rapidly evolving homeostatic control system programming testis function. The Journal of endocrinology (June 2017) Prl3c1tm1(KOMP)Vlcg PMC5529123
Intense light-elicited upregulation of miR-21 facilitates glycolysis and cardioprotection through Per2-dependent mechanisms. PloS one (April 2017) Prl7c1tm1a(EUCOMM)Hmgu PMC5407766
A Prolactin Family Paralog Regulates Placental Adaptations to a Physiological Stressor. Biology of reproduction (March 2016) Prl7b1tm1(KOMP)Vlcg PMC4939737

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Prltm3e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Prltm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Prltm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Prltm3a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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