Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
LIM homeobox protein 3
Synonyms:
Lim3,  mLim-3,  P-LIM

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 Lhx3 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.

The table below shows human diseases associated to Lhx3 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Growth delay, Decreased circulating T4 concentration... ORPHA:226307
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Adrenocorticotropic hormone deficiency, Decreased response to growth hormone stimulation test, Go... ORPHA:231720
Pituitary Hormone Deficiency, Combined, 3
Gonadotropin deficiency, Anterior hypopituitarism, Decreased response to growth hormone stimulati... OMIM:221750

The table below shows human diseases predicted to be associated to Lhx3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pituitary Adenoma 5, Multiple Types
Pituitary adenoma OMIM:617540
Thyroid Hormone Metabolism, Abnormal, 1
Hypothyroidism, Decreased circulating free T3, Elevated circulating thyroid-stimulating hormone c... OMIM:609698
Post-Traumatic Pituitary Deficiency
Amenorrhea, Infertility, Growth delay, Abnormal prolactin level, Decreased response to growth hor... ORPHA:95619
Functioning Gonadotropic Adenoma
Impotence, Ovarian cyst, Central diabetes insipidus, Enlarged polycystic ovaries, Pituitary gonad... ORPHA:91348
Pituitary Hormone Deficiency, Combined, 2
Adrenal insufficiency, Reduced circulating prolactin concentration, Short stature, Panhypopituita... OMIM:262600
Isochromosomy Yp
Ambiguous genitalia, Male infertility, Decreased testicular size, Primary gonadal insufficiency, ... ORPHA:98797
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal spermatogenesis, Decreased testicular size, Azoospermia, In... ORPHA:399805
Non-Functioning Pituitary Adenoma
Impotence, Central adrenal insufficiency, Decreased fertility in males, Erectile dysfunction, Hyp... ORPHA:91349
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Azoospermia, Testicular microlithiasis, Micropenis, O... OMIM:228300
Isochromosomy Yq
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Primary gonadal ins... ORPHA:98798
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Decreased circulating free T3, Abnormal circulating insulin concentration, Elevated circulating t... ORPHA:171706
Spermatogenic Failure, X-Linked, 4
Decreased serum testosterone concentration, Abnormal prolactin level, Elevated circulating lutein... OMIM:301077
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... OMIM:616950
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypoplasia of the ovary, Reduced circulating prolactin concentration, Short stature, Hypogonadotr... ORPHA:2235
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal vagina morphology, Infertility, Hypoplasia of the uterus, Decreased serum testosterone c... ORPHA:168563
Ovarian Dysgenesis 9
Hypoplasia of the ovary, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level... OMIM:619665
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Gonadotr... OMIM:614837
Polyendocrine-Polyneuropathy Syndrome
Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Hypogonad... ORPHA:453533
Partial Chromosome Y Deletion
Oligospermia, Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Decreased ... ORPHA:1646
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... OMIM:108420
Isolated Growth Hormone Deficiency, Type Iv
Anterior pituitary hypoplasia, Decreased serum insulin-like growth factor 1, Decreased response t... OMIM:618157
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Elevated circulating luteinizing hormone level, Decreased circulating follicle stimu... OMIM:229070
Panhypopituitarism, X-Linked
Panhypopituitarism OMIM:312000
Non-Acquired Isolated Growth Hormone Deficiency
Anterior hypopituitarism ORPHA:631
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Decreased serum testosterone concentration, Azoospermia, Delayed menarche, Hy... ORPHA:52901
Ane Syndrome
Decreased serum testosterone concentration, Decreased response to growth hormone stimulation test... ORPHA:157954
Premature Ovarian Failure 7
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Gon... OMIM:612964
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona... OMIM:308700
Pituicytoma
Abnormality of the pituitary gland, Amenorrhea, Impotence, Decreased serum testosterone concentra... ORPHA:251623
Wolfram-Like Syndrome
Primary gonadal insufficiency, Severe postnatal growth retardation, Hypothyroidism, Male hypogona... ORPHA:411590
Spermatogenic Failure 57
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Ring Chromosome Y Syndrome
Ambiguous genitalia, female, Female infertility, Streak ovary, Abnormality of the male genitalia,... ORPHA:261529
Hypogonadotropic Hypogonadism 27 Without Anosmia
Absence of pubertal development, Decreased circulating follicle stimulating hormone concentration... OMIM:619755
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Leydig cell insensitivity to gonadotropin, Eunuchoid habitus, Micropenis, Hyp... OMIM:308750
Hypothyroidism, Central, With Testicular Enlargement
Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Reduced circulating prol... OMIM:300888
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum testosterone concentration, Micropenis, Decreased circulating follicle stimulatin... OMIM:614897
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Cryptorchidism, Congenital adrenal hypoplasia, Decreased circulating luteinizing hormone level OMIM:202150
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Reduced circulating prolactin concentration, Macroorchidism OMIM:264120
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Short stature, Hypogonadism, Central hypothyroidism OMIM:616113
Thyroid Hormone Resistance, Selective Pituitary
Elevated circulating thyroid-stimulating hormone concentration, Hyperthyroidism, Impaired sensiti... OMIM:145650
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Decreased testicula... ORPHA:399808
Diabetes Insipidus, Neurohypophyseal
Decreased circulating osteocalcin level, Central diabetes insipidus OMIM:125700
Pituitary Dwarfism With Large Sella Turcica
Hypothyroidism, Growth delay, Pituitary dwarfism, Decreased response to growth hormone stimulatio... OMIM:262710
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:613038
Premature Ovarian Failure 18
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... OMIM:619203
Amenorrhea-Galactorrhea Syndrome
Pituitary adenoma OMIM:104600
Prolactin Deficiency, Isolated
Infertility, Irregular menstruation, Reduced circulating prolactin concentration OMIM:264110
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:619326
Premature Ovarian Failure 10
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypo... OMIM:612885
Non-Acquired Panhypopituitarism
Amenorrhea, Ectopic anterior pituitary gland, Infertility, Growth delay, Abnormal prolactin level... ORPHA:90695
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the ovary, Decreased serum testosterone concentration, Hypoplasia of the uterus, Mi... OMIM:614841
Premature Ovarian Failure 6
Female infertility, Hypoplasia of the uterus, Streak ovary, Elevated circulating luteinizing horm... OMIM:612310
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulati... OMIM:614842
Growth Hormone Deficiency, Isolated Partial
Decreased response to growth hormone stimulation test, Small pituitary gland OMIM:615925
Joubert Syndrome 26
Decreased response to growth hormone stimulation test, Short stature, Micropenis, Panhypopituitar... OMIM:616784
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Decreased serum testosterone concentration, Gonadal dysgenesis with fem... OMIM:273250
Premature Ovarian Failure 13
Amenorrhea, Hypoplasia of the uterus, Female infertility, Oligomenorrhea, Elevated circulating fo... OMIM:617442
Moynahan Syndrome
Cachexia, Short stature, Hypogonadism ORPHA:2574
Delayed Puberty, Self-Limited
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... OMIM:619613
Panhypophysitis
Amenorrhea, Adrenocorticotropic hormone deficiency, Impotence, Decreased serum testosterone conce... ORPHA:95513
Perrault Syndrome 4
Hypoplasia of the uterus, Hypoplasia of the ovary, Bicornuate uterus, Primary amenorrhea, Oligome... OMIM:615300
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating ACTH level, Congenital adrenal hyperplasia OMIM:613571
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased circulating androgen concentration, Decreased fertility in males, Hypergonadotropic hyp... ORPHA:90796
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Early sperm... OMIM:619949
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Hypothyroidism, Panhypopituitarism, Decreased response to growth hormone stimulation test OMIM:300123
Adenohypophysitis
Amenorrhea, Adrenocorticotropic hormone deficiency, Impotence, Decreased serum testosterone conce... ORPHA:95512
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... ORPHA:251510
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Azoospermia, Male hypogonadism OMIM:241000
Spermatogenic Failure 25
Azoospermia, Cryptozoospermia, Decreased testicular size OMIM:617960
Partial Androgen Insensitivity Syndrome
Abnormal circulating estrogen level, Blind vagina, Primary amenorrhea, Ambiguous genitalia, Clito... ORPHA:90797
Pituitary Adenoma 2, Growth Hormone-Secreting
Pituitary adenoma, Elevated circulating growth hormone concentration OMIM:300943
Diencephalic Syndrome
Decreased body weight, Cachexia, Abnormality of the hypothalamus-pituitary axis, Long penis, Hype... ORPHA:1672
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Decreased circulating cortisol level, Ovarian cyst, Primary amenorrhea, Abnormal re... ORPHA:90793
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Primary amenorrhea, Delayed puberty OMIM:618117
Normosmic Congenital Hypogonadotropic Hypogonadism
Increased female libido, Hypoplasia of the ovary, Decreased serum testosterone concentration, Cry... ORPHA:432
Gangliocytoma
Abnormality of the pituitary gland, Amenorrhea, Pituitary null cell adenoma, Elevated circulating... ORPHA:251937
49,Xyyyy Syndrome
Abnormality of the testis size, Decreased serum testosterone concentration, External genital hypo... ORPHA:99330
Spermatogenic Failure 28
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... OMIM:618086
Pituitary Apoplexy
Adrenocorticotropic hormone deficiency, Pituitary adenoma, Elevated circulating growth hormone co... ORPHA:95613
Pituitary Stalk Interruption Syndrome
Failure to thrive, Hypoplasia of penis, Short stature, Abnormality of the hypothalamus-pituitary ... ORPHA:95496
X-Linked Intellectual Disability, Van Esch Type
Failure to thrive, Type II diabetes mellitus, Decreased serum testosterone concentration, Cryptor... ORPHA:163976
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Growth delay, Decreased circulating T4 concentration... ORPHA:226307
Leydig Cell Hypoplasia
Abnormal external genitalia, Hypergonadotropic hypogonadism, Primary amenorrhea, Hyoplasia of the... ORPHA:755
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, female, Decreased fertility in males, Decreased circulating cortisol level, ... ORPHA:90791
Hyperthyroidism, Familial Gestational
Decreased thyroid-stimulating hormone level, Hyperthyroidism OMIM:603373
46,Xy Sex Reversal 3
Sex reversal, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Gonadal d... OMIM:612965
Resistance To Thyrotropin-Releasing Hormone Syndrome
Growth delay, Decreased circulating T4 concentration, Reduced circulating prolactin concentration... ORPHA:99832
Chromosome Xq27.3-Q28 Duplication Syndrome
Abdominal obesity, Decreased serum testosterone concentration, Cryptorchidism, Short stature, Sma... OMIM:300869
Hypergonadotropic Hypogonadism-Cataract Syndrome
Short stature, Hypergonadotropic hypogonadism, Primary amenorrhea, Absence of secondary sex chara... ORPHA:2410
Oliver-Mcfarlane Syndrome
Severe short stature, Hypoplasia of penis, Decreased response to growth hormone stimulation test,... OMIM:275400
Complete Androgen Insensitivity Syndrome
Increased serum testosterone level, Blind vagina, Increased antimullerian hormone level, Abnormal... ORPHA:99429
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility OMIM:619108
Rothmund-Thomson Syndrome, Type 1
Hypothyroidism, Premature ovarian insufficiency, Male hypogonadism, Short stature OMIM:618625
Sheehan Syndrome
Amenorrhea, Adrenocorticotropic hormone deficiency, Impotence, Dyspareunia, Central adrenal insuf... ORPHA:91355
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Micropenis, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone con... OMIM:619761
Estrogen Resistance
Hypoplasia of the uterus, Hyperinsulinemia, Primary amenorrhea OMIM:615363
Morbid Obesity And Spermatogenic Failure
Infertility, Type II diabetes mellitus, Azoospermia, Oligospermia, Obesity OMIM:615703
Hypothyroidism, Congenital, Nongoitrous, 8
Inappropriately normal thyroid-stimulating hormone level, Central hypothyroidism OMIM:301033
Spermatogenic Failure 73
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619937
Pituitary Hormone Deficiency, Combined, 4
Adrenal insufficiency, Short stature, Severe postnatal growth retardation, Pituitary dwarfism, Hy... OMIM:262700
Hypothyroidism, Congenital, Nongoitrous, 9
Inappropriately normal thyroid-stimulating hormone level, Thyroid hypoplasia, Central hypothyroidism OMIM:301035
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Precocious Puberty, Central, 1
Short stature, Elevated circulating luteinizing hormone level, Isosexual precocious puberty, Hypo... OMIM:176400
Hypothyroidism, Congenital, Nongoitrous, 1
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypoth... OMIM:275200
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Short stature, Abnormality of the parathy... ORPHA:1227
Estrogen Resistance Syndrome
Hyperinsulinemia, Hypoplasia of the uterus, Absence of pubertal development, Primary amenorrhea, ... ORPHA:785
Ovarian Dysgenesis 2
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Secon... OMIM:300510
Hydrocephalus-Obesity-Hypogonadism Syndrome
Short stature, Hypergonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary axis, Az... ORPHA:2183
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
X-Linked Intellectual Disability, Cilliers Type
Failure to thrive, Decreased serum testosterone concentration, Cryptorchidism, Short stature, Hyp... ORPHA:163971
Combined Pituitary Hormone Deficiencies, Genetic Forms
Amenorrhea, Ectopic anterior pituitary gland, Infertility, Growth delay, Abnormal prolactin level... ORPHA:95494
Adrenal Hypoplasia, Congenital
Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Precocious pub... OMIM:300200
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Primary amenorrhea, Gonadal dysgenesis OMIM:233300
Retinohepatoendocrinologic Syndrome
Maturity-onset diabetes of the young, Infertility, Hypothyroidism OMIM:268040
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Primary amenorrhea, Short stature OMIM:614129
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Infertility, Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Abnormality of the urethr... ORPHA:752
Spermatogenic Failure 70
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility OMIM:619828
Pituitary Carcinoma
Pituitary growth hormone cell adenoma, Enlarged pituitary gland, Elevated circulating growth horm... ORPHA:300385
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Hypothyroidism, Male pseudohermaphroditism, Female external genitalia in individual with 46,XY ka... OMIM:264300
47,Xyy Syndrome
Increased serum testosterone level, Cryptorchidism, Micropenis, Hypospadias, Oligospermia, Varico... ORPHA:8
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Decreased response to growth hormone stimulation test, Short stature, Hypergonadotropic hypogonad... ORPHA:280679
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Abnormal calcium-phosphate regulating hormone level, Precocious puberty, Hyperthyroidism, Abnorma... ORPHA:457059
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Infertility, Impotence, Decreased serum testosterone concentration, Cryptorchidism, Small pituita... ORPHA:2232
Müllerian Aplasia And Hyperandrogenism
Increased serum testosterone level, Abnormal vagina morphology, Hypoplasia of the uterus, Short s... ORPHA:247768
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
49,Xxxyy Syndrome
Abnormality of the testis size, Decreased serum testosterone concentration, External genital hypo... ORPHA:261534
Seckel Syndrome 7
Hypoplasia of the uterus, Severe short stature, Primary amenorrhea, Intrauterine growth retardati... OMIM:614851
Meningioma
Amenorrhea, Enlarged pituitary gland, Impotence, Decreased serum testosterone concentration, Redu... ORPHA:2495
Leydig Cell Hypoplasia, Type I
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level OMIM:238320
Woodhouse-Sakati Syndrome
Growth delay, Hyperinsulinemia, Decreased serum testosterone concentration, Decreased response to... ORPHA:3464
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Abdominal obesity, Decreased response to growth hormone stimulation test, Short stature, Truncal ... OMIM:618160
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hypergonadotropic hypogonadism, Abnormality of thalamus morphology, Azoospermia OMIM:613724
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
46,Xx Gonadal Dysgenesis
Streak ovary, Short stature, Primary amenorrhea, Gonadal dysgenesis, Aplasia/hypoplasia of the ut... ORPHA:243
Ovarian Dysgenesis 3
Female infertility, Elevated circulating follicle stimulating hormone level, Elevated circulating... OMIM:614324
Central Precocious Puberty
Hypothalamic hamartoma, Premature thelarche, Increased body weight, Isosexual precocious puberty,... ORPHA:759
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Graves disease, Increased circulating free T3, Weigh... OMIM:275000
Endocardial Fibroelastosis
Cryptorchidism, Hypoplasia of penis, Anterior hypopituitarism ORPHA:2022
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Central adrenal insufficiency, External genital hypoplasia, Primary amenorrhea, Clitoral hypoplas... ORPHA:98754
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Decreased circulating renin level, Hyperaldosteronism, Adrenogenital syndrome OMIM:103900
Laryngeal Neuroendocrine Tumor
Increased serum serotonin, Adrenocorticotropic hormone excess, Inappropriate antidiuretic hormone... ORPHA:100083
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Decreased response to growth hormone stimulation test, Short stature, Hypergonadotropic hypogonad... OMIM:300845
Riboflavin Transporter Deficiency
Diabetes insipidus, Cachexia, Hypogonadism ORPHA:97229
Tsh-Secreting Pituitary Adenoma
Impotence, Central adrenal insufficiency, Decreased fertility in males, Increased circulating pro... ORPHA:91347
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Micropenis, Small for gestational age, Hypospadias, Vaginal neoplasm, D... ORPHA:1916
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Central adrenal insufficiency, External genital hypoplasia, Primary amenorrhea, Clitoral hypoplas... ORPHA:98793
Anemia, Hypochromic Microcytic, With Iron Overload 2
Azoospermia, Growth delay, Hypogonadism OMIM:615234
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Hypogonadism-Cataract Syndrome
Infertility, Elevated circulating follicle stimulating hormone level, Male hypogonadism, Hypogona... OMIM:240950
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Central adrenal insufficiency, External genital hypoplasia, Primary amenorrhea, Clitoral hypoplas... ORPHA:177904
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility ORPHA:276183
Transient Neonatal Diabetes Mellitus
Failure to thrive, Hypoinsulinemia, Small for gestational age, Maturity-onset diabetes of the you... ORPHA:99886
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Central adrenal insufficiency, External genital hypoplasia, Primary amenorrhea, Clitoral hypoplas... ORPHA:177901
Prolactinoma
Impotence, Dyspareunia, Central adrenal insufficiency, Decreased fertility in males, Erectile dys... ORPHA:2965
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary, Irregular menstruation, Primary amenorrhea, Secondary ame... OMIM:617565
Familial Glucocorticoid Deficiency
Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Precocious pub... ORPHA:361
Oocyte Maturation Defect 10
Female infertility, Miscarriage OMIM:619176
Silver-Russell Syndrome
Abnormal vagina morphology, Precocious puberty, Short stature, Abnormality of male external genit... ORPHA:813
Spermatogenic Failure, X-Linked, 2
Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Perrault Syndrome 1
Increased circulating gonadotropin level, Primary amenorrhea, Gonadal dysgenesis, Short stature OMIM:233400
Androgen Insensitivity Syndrome
Labial hypoplasia, Blind vagina, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:300068
X-Linked Acrogigantism
Increased circulating insulin-like growth factor 1 concentration, Decreased thyroid-stimulating h... ORPHA:300373
Obesity Due To Prohormone Convertase I Deficiency
Growth delay, Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulati... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Growth delay, Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulati... ORPHA:71526
46,Xy Sex Reversal 1
Sex reversal, Abnormality of male external genitalia, Elevated circulating luteinizing hormone le... OMIM:400044
Isolated Growth Hormone Deficiency, Type Ib
Decreased response to growth hormone stimulation test, Short stature OMIM:612781
Mehmo Syndrome
Decreased response to growth hormone stimulation test, Micropenis, Small for gestational age, Bir... OMIM:300148
Hemochromatosis, Type 2A
Amenorrhea, Hypogonadotropic hypogonadism, Infertility, Azoospermia OMIM:602390
Hydatidiform Mole
Menometrorrhagia, Miscarriage, Hyperthyroidism, Enlarged uterus ORPHA:99927
Maternal Uniparental Disomy Of Chromosome 2
Chordee, Miscarriage, Decreased response to growth hormone stimulation test, Hypospadias, Hypothy... ORPHA:96179
Pseudohypoparathyroidism Type 1C
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:79444
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Testicular Agenesis
Urogenital sinus anomaly, Hypoplasia of the uterus, Decreased serum testosterone concentration, A... ORPHA:325124
Maternal Uniparental Disomy Of Chromosome X
Short stature, Ambiguous genitalia, Primary gonadal insufficiency, Azoospermia, Gonadal tissue in... ORPHA:261519
Mcdonough Syndrome
Cachexia, Cryptorchidism, Short stature ORPHA:2471
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Adrenogenital syndrome OMIM:201710
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Adrenocorticotropic hormone deficiency, Precocious puberty, Impotence, Decreased response to grow... ORPHA:91354
Acromesomelic Dysplasia 3
Disproportionate short-limb short stature, Hypoplasia of the uterus, Hypergonadotropic hypogonadi... OMIM:609441
Renpenning Syndrome
Severe short stature, Hypospadias, Cachexia, Decreased testicular size, Diabetes mellitus, Growth... ORPHA:3242
Ovarian Dysgenesis 10
Hypoplasia of the ovary, Streak ovary, Elevated circulating luteinizing hormone level, Primary am... OMIM:619834
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:66628
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Type II diabetes mellitus, Impaired sensitivity to thyroid hormone, Small for gestational age, Co... OMIM:274300
45,X/46,Xy Mixed Gonadal Dysgenesis
Ambiguous genitalia, female, Streak ovary, Ambiguous genitalia, Abnormal internal genitalia, Bila... ORPHA:1772
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased serum testosterone level, Decreased circulating aldosterone level, Ambiguous genitalia,... OMIM:202010
46,Xx Sex Reversal 1
Sex reversal, Bicornuate uterus, Hypospadias, Elevated circulating luteinizing hormone level, Ovo... OMIM:400045
Ovarian Dysgenesis 4
Decreased body weight, Short stature, Primary amenorrhea, Decreased serum estradiol, Elevated cir... OMIM:616185
Pseudohypoparathyroidism, Type Ic
Short stature, Elevated circulating parathyroid hormone level, Hypothyroidism, Hypogonadism, Obes... OMIM:612462
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Abnormal hypothalamus morphology, Short st... OMIM:614963
Potocki-Shaffer Syndrome
Hypothyroidism, Delayed puberty, Micropenis ORPHA:52022
Prader-Willi-Like Syndrome
Central adrenal insufficiency, External genital hypoplasia, Primary amenorrhea, Clitoral hypoplas... ORPHA:398073
Blepharophimosis, Ptosis, And Epicanthus Inversus
Amenorrhea, Female infertility, Hypoplasia of the uterus, Irregular menstruation, Increased circu... OMIM:110100
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Decreased serum testosterone concentration, Micropenis, Hypergonadotrop... OMIM:241080
Maffucci Syndrome
Pituitary adenoma, Ovarian neoplasm, Parathyroid adenoma, Short stature, Neoplasm of the adrenal ... ORPHA:163634
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:179494
Oocyte Maturation Defect 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Sim1-Related Prader-Willi-Like Syndrome
External genital hypoplasia, Primary amenorrhea, Clitoral hypoplasia, Hypogonadism, Small scrotum... ORPHA:398079
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Decreased testicular size, Small pituitary gland OMIM:614880
Premature Ovarian Failure 20
Female infertility, Elevated circulating luteinizing hormone level, Elevated circulating follicle... OMIM:619938
Prader-Willi Syndrome
Central adrenal insufficiency, External genital hypoplasia, Primary amenorrhea, Clitoral hypoplas... ORPHA:739
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Oligospermia, Decreased testicular size OMIM:619689
Female Infertility Due To Oocyte Meiotic Arrest
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis ORPHA:488191
Thyroid Dyshormonogenesis 3
Increased T3/T4 ratio, Goiter, Compensated hypothyroidism, Thyroid carcinoma OMIM:274700
Pituitary Adenoma 1, Multiple Types
Pituitary growth hormone cell adenoma, Pituitary adenoma, Elevated circulating growth hormone con... OMIM:102200
Isolated Growth Hormone Deficiency, Type Ii
Pituitary dwarfism, Severe short stature, Decreased response to growth hormone stimulation test OMIM:173100
Mccune-Albright Syndrome
Increased serum testosterone level, Precocious puberty, Abnormal endocrine physiology, Abnormalit... ORPHA:562
Temple Syndrome
Precocious puberty, Type II diabetes mellitus, Decreased response to growth hormone stimulation t... ORPHA:254516
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... ORPHA:289548
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Growth delay, Decreased circulating T4 concentration... ORPHA:90674
Congenital Disorder Of Glycosylation, Type Iiq
Small pituitary gland OMIM:617395
Thyrotropin-Releasing Hormone Deficiency
Hypothyroidism, Short stature, Hypothalamic hypothyroidism OMIM:275120
Satoyoshi Syndrome
Amenorrhea, Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Sh... ORPHA:3130
Silver-Russell Syndrome Due To A Point Mutation
Dysmenorrhea, Bifid scrotum, Small for gestational age, Hypospadias, Hypothyroidism, Postnatal gr... ORPHA:397590
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Primary amenorrhea, Short stature OMIM:617690
Hypersecretion Of Adrenal Androgens, Familial
Adrenal overactivity, Premature pubarche, Increased circulating androgen concentration, Amenorrhea OMIM:145295
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Goiter, Increased circulating free T3, Impaired sensitivity to thyroid hormone OMIM:188570
Ring Chromosome 21 Syndrome
Amenorrhea, Infertility, Short stature, Azoospermia, Diabetes insipidus ORPHA:1445
Familial Thyroid Dyshormonogenesis
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... ORPHA:95716
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Hypothyroidism, Uterus didelphys, Hypoplasia of penis, Short stature ORPHA:2491
Congenital Hypothyroidism
Abnormality of the thyroid gland, Short stature, Thyroid dysgenesis, Anterior hypopituitarism, Hy... ORPHA:442
Thyroid Dyshormonogenesis 6
Hypothyroidism, Congenital hypothyroidism OMIM:607200
Frasier Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis with female appearance, male, Streak ovary, Hypergo... ORPHA:347
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Abnormal calcium-phosphate regulating hormone level, Decreased circulating al... ORPHA:3453
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Deleted in azoospermia
Azoospermia OMIM:400003
Kallmann Syndrome
Dyspareunia, Hypoplasia of penis, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, ... ORPHA:478
Li-Campeau Syndrome
Hypothyroidism, Cryptorchidism, Short stature, Micropenis OMIM:619189
Pituitary Hormone Deficiency, Combined, 6
Ectopic posterior pituitary OMIM:613986
Premature Ovarian Failure 1
Increased circulating gonadotropin level, Irregular menstruation, Premature ovarian insufficiency OMIM:311360
48,Xxyy Syndrome
Infertility, Type II diabetes mellitus, Hypoplasia of penis, Hypergonadotropic hypogonadism, Decr... ORPHA:10
Pseudohypoparathyroidism, Type Ia
Short stature, Elevated circulating parathyroid hormone level, Hypothyroidism, Hypogonadism, Obes... OMIM:103580
Lig4 Syndrome
Amenorrhea, Failure to thrive, Micropenis, Hypothyroidism, Cryptorchidism OMIM:606593
Fetal Iodine Syndrome
Hypothyroidism ORPHA:1910
48,Xyyy Syndrome
Azoospermia, Male hypogonadism, Primary gonadal insufficiency ORPHA:99329
Orthostatic Hypotension 1
Retrograde ejaculation, Reduced circulating prolactin concentration OMIM:223360
Neurodevelopmental Disorder With Language Delay And Seizures
Hypothyroidism, Growth delay, Cryptorchidism, Hypothalamic hamartoma OMIM:619908
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Adrenocorticotropic hormone deficiency, Decreased response to growth hormone stimulation test, Go... ORPHA:231720
Pseudohypoparathyroidism Type 1A
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:79443
Premature Ovarian Failure 8
Ovarian neoplasm, Streak ovary, Elevated circulating luteinizing hormone level, Primary amenorrhe... OMIM:615723
Oocyte Maturation Defect 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte Maturation Defect 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Familial Male-Limited Precocious Puberty
Precocious puberty, Oligospermia, Long penis, Male infertility, Macroorchidism ORPHA:3000
Congenital Atransferrinemia
Hypothyroidism ORPHA:1195
Premature Ovarian Failure 9
Amenorrhea, Increased circulating gonadotropin level, Premature ovarian insufficiency OMIM:615724
Kennedy Disease
Erectile dysfunction, Testicular atrophy, Type II diabetes mellitus, Decreased fertility ORPHA:481
4H Leukodystrophy
Decreased response to growth hormone stimulation test, Short stature, Hypogonadotropic hypogonadi... ORPHA:289494
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the uterus, Decreased serum testosterone concentration, Micropenis, B... OMIM:278850
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Small pituitary gland, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptorchidism OMIM:612702
Pituitary Hormone Deficiency, Combined, 3
Gonadotropin deficiency, Anterior hypopituitarism, Decreased response to growth hormone stimulati... OMIM:221750
Androgen Insensitivity, Partial
Infertility, Bifid scrotum, Micropenis, Male pseudohermaphroditism, Absent vas deferens, Hypogona... OMIM:312300
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Hypothyroidism, Cryptorchidism OMIM:613970
Premature Ovarian Failure 17
Elevated circulating luteinizing hormone level, Decreased inhibin B level, Decreased serum estrad... OMIM:619146
Oocyte Maturation Defect 12
Female infertility OMIM:619697
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Mitochondrial Neurogastrointestinal Encephalomyopathy
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Weight loss, Cachexia ORPHA:298
Symptomatic Form Of Hemochromatosis Type 1
Amenorrhea, Infertility, Testicular atrophy, Decreased serum testosterone concentration, Hypogona... ORPHA:465508
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Hypothyroidism OMIM:619647
Alstrom Syndrome
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Short stature, Hypergona... OMIM:203800
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormality of thyroid physiology, Decreased thyroid-stimulating hormone level, Decreased circula... ORPHA:95715
Polyembryoma
Increased serum serotonin, Abnormality of the endocrine system, Increased serum testosterone leve... ORPHA:180229
Galloway-Mowat Syndrome 6
Decreased body weight, Decreased response to growth hormone stimulation test, Short stature, Hypo... OMIM:618347
Amed Syndrome, Digenic
Adrenal hypoplasia, Hypoplasia of the uterus, Failure to thrive, Short stature OMIM:619151
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Obstructive azoospermia, Male infertility OMIM:301060
Pituitary Gigantism
Increased circulating insulin-like growth factor 1 concentration, Pituitary growth hormone cell a... ORPHA:99725
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperactive renin-angiotensin system, Ambiguous genitalia, female, Miscarriage, Abnormal external... ORPHA:90794
Spermatogenic Failure 65
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619712
Acrodysostosis 1 With Or Without Hormone Resistance
Intrauterine growth retardation, Disproportionate short-limb short stature, Decreased growth horm... OMIM:101800
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus, Short stature ORPHA:2578
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter, Secondary amenorrhea, Premature ovarian insufficiency OMIM:617175
Hemochromatosis, Type 1
Amenorrhea, Testicular atrophy, Impotence, Hypogonadotropic hypogonadism, Diabetes mellitus, Azoo... OMIM:235200
Bone Marrow Failure Syndrome 5
Testicular atrophy, Short stature, Hypogonadism OMIM:618165
Intellectual Disability-Strabismus Syndrome
Failure to thrive, Decreased response to growth hormone stimulation test, Micropenis, Short statu... ORPHA:363528
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Decreased circulating T4 concentration, Congenital hypothyroidism, Large for gestational age, Ele... ORPHA:226313
Bonnemann-Meinecke-Reich Syndrome
Decreased response to growth hormone stimulation test, Short stature ORPHA:1261
Pituitary Dermoid And Epidermoid Cysts
Amenorrhea, Enlarged pituitary gland, Panhypopituitarism, Oligospermia, Oligomenorrhea, Anterior ... ORPHA:91351
Thyroid Dyshormonogenesis 5
Hypothyroidism, Growth delay, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Growth delay, Goiter OMIM:274800
Premature Ovarian Failure 3
Secondary amenorrhea, Hypoplasia of the uterus, Premature ovarian insufficiency OMIM:608996
Short Stature-Wormian Bones-Dextrocardia Syndrome
Cryptorchidism, Midshaft hypospadias, Anterior hypopituitarism, Short stature ORPHA:2863
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... ORPHA:983
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Short stature, Small for gestational age, Hypothyroidism, Delayed puberty, Growth delay, Cryptorc... OMIM:616817
Hypothyroidism, Congenital, Nongoitrous, 6
Impaired sensitivity to thyroid hormone, Increased body weight, Increased body mass index, Congen... OMIM:614450
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Glucocortocoid... ORPHA:404
Spermatogenic Failure 56
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619515
Magel2-Related Prader-Willi-Like Syndrome
External genital hypoplasia, Primary amenorrhea, Clitoral hypoplasia, Hypogonadism, Increased bod... ORPHA:398069
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Dexamethasone-... ORPHA:403
Premature Ovarian Failure 16
Reduced antral follicle count, Elevated circulating follicle stimulating hormone level, Decreased... OMIM:618723
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Growth delay, Hypoplasia of penis, Congenital hypothyroidism, Decreased response to growth hormon... OMIM:601427
Idiopathic Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 concentr... ORPHA:95717
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Hypoplasia of the uterus, Female infertility, Elevated circulating follicle stimulating hormone l... ORPHA:572333
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Ambiguous genitalia, Anterior hypopituitarism OMIM:601016
Myxedema
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Hypohidrosis, Goiter OMIM:255900
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Decreased circulating ACTH le... OMIM:615954
Aromatase Deficiency
Type II diabetes mellitus, Ambiguous genitalia, female, Female infertility, Eunuchoid habitus, Hy... ORPHA:91
Premature Ovarian Failure 19
Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency OMIM:619245
Cortisone Reductase Deficiency 1
Infertility, Oligomenorrhea, Precocious puberty, Obesity OMIM:604931
Ovarian Dysgenesis 8
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated c... OMIM:618187
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... OMIM:611102
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Adrenal hyperplasia, Primary hypercortisolism, Macronodular... OMIM:219080
Acrodysostosis 2 With Or Without Hormone Resistance
Hypospadias, Congenital hypothyroidism, Diabetes mellitus, Obesity, Cryptorchidism, Mild short st... OMIM:614613
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Decreased response to ... ORPHA:67045
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Decreased circulating parathyroid hormone level, Decreased circulating aldost... OMIM:240300
Spermatogenic Failure 54
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... OMIM:619379
Blue Diaper Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 concentr... ORPHA:94086
Pallister-Hall Syndrome
Central adrenal insufficiency, Hypothalamic hamartoma, Large for gestational age, Ambiguous genit... ORPHA:672
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus, Short stature OMIM:601076
X-Linked Intellectual Disability, Cabezas Type
Hypoplasia of penis, Short stature, Cachexia, Decreased testicular size, Hypogonadism, Obesity, H... ORPHA:85293
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Hypothyroidism, Short stature OMIM:617763
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Infertility, Goiter OMIM:617577
Congenital Disorder Of Glycosylation, Type Ih
Failure to thrive, Neonatal death, Hypothyroidism, Death in infancy, Cryptorchidism, Intrauterine... OMIM:608104
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Decreased response to growth hormone stimulation test, Micropenis, Hypospadias, Adrenal hypoplasi... OMIM:614732
Nephrotic Syndrome, Type 14
Adrenal insufficiency, Micropenis, Hypothyroidism, Hypogonadism, Cryptorchidism OMIM:617575
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Ambiguous genitalia, female, Decreased circulating cortisol level, Premature thelarche, Long peni... ORPHA:90795
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:201910
Allan-Herndon-Dudley Syndrome
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration OMIM:300523
Coffin-Siris Syndrome 9
Hypoplasia of the uterus, Decreased response to growth hormone stimulation test, Short stature, D... OMIM:615866
Septopreoptic Holoprosencephaly
Central diabetes insipidus, Precocious puberty, Anterior hypopituitarism ORPHA:280195
Permanent Congenital Hypothyroidism
Thyroid dysgenesis, Goiter, Hypothyroidism, Short stature ORPHA:226292
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Failure to thrive, Cryptorchidism, Precocious puberty, Congenital hypothyroidism OMIM:614736
Spermatogenic Failure 51
Microcephalic sperm head, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm mot... OMIM:619177
Hyperthyroxinemia, Dystransthyretinemic
Euthyroid hyperthyroxinemia OMIM:145680
Hyperthyroxinemia, Familial Dysalbuminemic
Euthyroid hyperthyroxinemia OMIM:615999
19Q13.11 Microdeletion Syndrome
Failure to thrive, Supernumerary nipple, Bifid scrotum, Hypospadias, Cachexia, Growth delay, Cryp... ORPHA:217346
Young Syndrome
Azoospermia OMIM:279000
Pigmented Nodular Adrenocortical Disease, Primary, 4
Adrenal hyperplasia, Primary hypercortisolism, Diabetes mellitus, Increased circulating cortisol ... OMIM:615830
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Adrenal insufficiency, Growth delay, Abnormality of the hypothalamus-pituitary axis, Hypothyroidi... ORPHA:300298
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Infertility, Type II diabetes mellitus, Pancreatitis, Delayed menarche, Oligomenorrhea, Hypothyro... ORPHA:412057
Gne Myopathy
Hypothyroidism ORPHA:602
Maternal Uniparental Disomy Of Chromosome 9
Intrauterine growth retardation, Failure to thrive, Congenital hypothyroidism ORPHA:96183
Pallister-Hall Syndrome
Precocious puberty, Distal urethral duplication, Decreased response to growth hormone stimulation... OMIM:146510
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Oocyte Maturation Defect 1
Female infertility OMIM:615774
Brain-Lung-Thyroid Syndrome
Hypoparathyroidism, Failure to thrive, Abnormality of the thyroid gland, Short stature, Thyroid d... ORPHA:209905
Cowden Syndrome 6
Hydrocele testis, Hyperthyroidism, Ovarian cyst, Hypothyroidism, Varicocele, Goiter, Thyroid aden... OMIM:615109
Cowden Syndrome 5
Hydrocele testis, Hyperthyroidism, Ovarian cyst, Hypothyroidism, Goiter, Thyroid adenoma, Thyroid... OMIM:615108
Poems Syndrome
Abnormality of the endocrine system, Increased circulating prolactin concentration, Primary adren... ORPHA:2905
Androgen Insensitivity Syndrome
Ambiguous genitalia, male, Male pseudohermaphroditism, Testicular neoplasm, Aplasia/hypoplasia of... ORPHA:754
48,Xxxy Syndrome
Infertility, Type II diabetes mellitus, Hypoplasia of penis, Decreased testicular size, Hypogonad... ORPHA:96263
Flynn-Aird Syndrome
Cachexia, Primary adrenal insufficiency, Abnormality of the thyroid gland, Type II diabetes mellitus ORPHA:2047
46,Xy Sex Reversal 4
Sex reversal, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Agonadism, Gonadal dysgen... OMIM:154230
Athyreosis
Hypothyroidism, Thyroid agenesis, Growth delay, Short stature ORPHA:95713
Rabson-Mendenhall Syndrome
Increased serum testosterone level, Intrauterine growth retardation, Precocious puberty, Short st... ORPHA:769
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Goiter, Hyperthyroidism OMIM:613239
Pendred Syndrome
Goiter, Compensated hypothyroidism, Thyroid carcinoma OMIM:274600
Aarskog-Scott Syndrome
Failure to thrive, Testicular atrophy, Decreased serum testosterone concentration, Cryptorchidism... OMIM:305400
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Myoectodermal Gonadal Dysgenesis Syndrome
Hypoplasia of the uterus, Short stature, Small for gestational age, Elevated circulating luteiniz... OMIM:618419
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma, Multinodular goiter, Thyroid nodule, Goiter OMIM:180295
49,Xxxxy Syndrome
Infertility, Type II diabetes mellitus, Hypoplasia of penis, Short stature, Decreased testicular ... ORPHA:96264
Thyroid Dyshormonogenesis 2A
Hypothyroidism, Thyroid defect in oxidation and organification of iodide, Goiter OMIM:274500
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Polycystic ovaries, Precocious puberty ORPHA:2229
Adrenocortical Carcinoma
Paradoxical increased cortisol secretion on dexamethasone suppression test, Adrenocorticotropic h... ORPHA:1501
Wolfram Syndrome 1
Testicular atrophy, Hypothyroidism, Diabetes mellitus, Growth delay, Diabetes insipidus OMIM:222300
Pallister-Hall-Like Syndrome
Death in infancy, Anterior hypopituitarism, Micropenis, Hypothalamic hamartoma OMIM:241800
Fetal Iodine Deficiency Disorder
Congenital hypothyroidism, Congenital goiter OMIM:228355
Immunodeficiency 31C
Short stature, Hypothyroidism, Delayed puberty, Diabetes mellitus, Growth delay OMIM:614162
Mccune-Albright Syndrome
Pituitary adenoma, Precocious puberty, Elevated circulating growth hormone concentration, Hyperth... OMIM:174800
Satoyoshi Syndrome
Amenorrhea, Hypoplasia of the uterus, Short stature OMIM:600705
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:202110
Bangstad Syndrome
Severe short stature, Small for gestational age, Insulin-resistant diabetes mellitus, Primary gon... OMIM:210740
Giant Axonal Neuropathy
Abnormality of the pituitary gland ORPHA:643
Genetic Transient Congenital Hypothyroidism
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... ORPHA:226316
Primary Pigmented Nodular Adrenocortical Disease
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pituitary adenoma, Pi... ORPHA:189439
Culler-Jones Syndrome
Cryptorchidism, Micropenis, Short stature, Ectopic posterior pituitary, Hypogonadism, Hypopituita... OMIM:615849
Microform Holoprosencephaly
Hypoplasia of penis, Short stature, Panhypopituitarism, Maternal diabetes, Hypothyroidism, Ambigu... ORPHA:280200
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Ovarian neoplasm, Cachexia, Testicular neoplasm, Weight loss ORPHA:83469
Boucher-Neuhauser Syndrome
Hypogonadotropic hypogonadism, Decreased circulating gonadotropin concentration OMIM:215470
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum
Primary hypothyroidism, Goiter OMIM:225040
Cowden Syndrome 1
Hydrocele testis, Hyperthyroidism, Ovarian cyst, Hypothyroidism, Varicocele, Goiter, Ovarian carc... OMIM:158350
Craniopharyngioma
Growth delay, Enlarged pituitary gland, Type II diabetes mellitus, Postnatal growth retardation, ... ORPHA:54595
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Precocious puberty, Hyperinsulinemia, Short stature, Diabetic ketoacidosis, Small for gestational... OMIM:262190
Cog2-Cdg
Small pituitary gland ORPHA:435934
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pituitary adenoma, In... ORPHA:189427
Erythrokeratodermia Variabilis
Short stature, Weight loss, Abnormal testis morphology, Diabetes mellitus ORPHA:317
8P11.2 Deletion Syndrome
Growth delay, Hypoplasia of penis, Short stature, Hypogonadotropic hypogonadism, Abnormality of t... ORPHA:251066
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Adrenocorticotropic hormone deficiency, Decreased response to growth hormo... OMIM:609734
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Hypothyroidism ORPHA:663
Autosomal Dominant Optic Atrophy, Classic Form
Hypothyroidism, Diabetes mellitus, Hypogonadism ORPHA:98673
Microduplication Xp11.22P11.23 Syndrome
Obesity, Precocious puberty ORPHA:217377
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypothyroidism, Hypopituitarism, Short stature OMIM:619013
46,Xy Sex Reversal 7
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Primary amenorrhe... OMIM:233420
Thyroid Dyshormonogenesis 1
Hypothyroidism, Growth delay, Goiter OMIM:274400
Leukodystrophy, Hypomyelinating, 24
Hypothyroidism, Severe short stature OMIM:619851
Thyroid Cancer, Nonmedullary, 1
Goiter, Papillary thyroid carcinoma, Non-medullary thyroid carcinoma OMIM:188550
Familial Papillary Or Follicular Thyroid Carcinoma
Follicular thyroid carcinoma, Goiter, Papillary thyroid carcinoma, Nodular goiter ORPHA:319487
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Decreased circulating renin level, Hyperaldosteronism OMIM:613677
Mulibrey Nanism
Cachexia, Intrauterine growth retardation, Short stature ORPHA:2576
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Hypoplasia of penis, Short stature, Bifid scrotum, Hypothyroidism, Cryptorchidism ORPHA:85321
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Adrenal insufficiency, Hyperaldosteronism, Adrenocorticotropic hormone excess OMIM:613743
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Failure to thrive, Small for gestational age, Hypospadias, Death in childhood, Hypothyroidism, Gr... OMIM:619147
Congenital Macroglossia
Hypothyroidism ORPHA:2430
Multiple Endocrine Neoplasia Type 1
Increased serum serotonin, Pituitary growth hormone cell adenoma, Thymoma, Impotence, Intestinal ... ORPHA:652
Hawkinsinuria
Hypothyroidism, Failure to thrive ORPHA:2118
Intellectual Developmental Disorder, Autosomal Dominant 52
Cryptorchidism, Small for gestational age, Hypothyroidism, Bilateral cryptorchidism, Overweight OMIM:617796
Ring Chromosome 12 Syndrome
Uterine leiomyoma, Small for gestational age, Glandular hypospadias, Hypothyroidism, Breast hypop... ORPHA:1439
Carney Complex
Increased circulating insulin-like growth factor 1 concentration, Pituitary growth hormone cell a... ORPHA:1359
Kennerknecht syndrome
Abdominal obesity, Agonadism, Hypoplasia of the uterus, Short stature OMIM:600908
Hypotonia-Cystinuria Syndrome
Hypergonadotropic hypogonadism, Postnatal growth retardation, Failure to thrive, Decreased respon... OMIM:606407
Boomerang Dysplasia
Severe short-limb dwarfism, Cryptorchidism, Decreased response to growth hormone stimulation test ORPHA:1263
Thymic Neuroendocrine Tumor
Pituitary null cell adenoma, Pituitary adenoma, Increased circulating cortisol level, Neuroendocr... ORPHA:97289
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Abnormal circulating renin, Glucocortocoid-insensitive primary hyperaldoster... ORPHA:251274
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Premature pubarche, Secondary amenorrhea, Short stature OMIM:612847
Deiodinase, iodothyronine, type I
Goiter, Euthyroid hyperthyroxinemia OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Goiter, Euthyroid hyperthyroxinemia OMIM:188560
Precocious Puberty, Central, 2
Premature thelarche, Premature pubarche OMIM:615346
Lig4 Syndrome
Type II diabetes mellitus, Hypoplasia of penis, Hypothyroidism, Growth delay, Cryptorchidism ORPHA:99812
Medullary Thyroid Carcinoma
Medullary thyroid carcinoma, Primary hyperparathyroidism, Pheochromocytoma, Elevated calcitonin, ... ORPHA:1332
Pediatric-Onset Graves Disease
Failure to thrive, Graves disease, Increased circulating free T3, Hyperhidrosis, Increased circul... ORPHA:525731
19P13.12 Microdeletion Syndrome
Precocious puberty, Hypospadias, Hypothyroidism, Obesity, Cryptorchidism, Intrauterine growth ret... ORPHA:254346
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Hypothyroidism, Short stature ORPHA:2349
Acrodysostosis With Multiple Hormone Resistance
Elevated calcitonin, Intrauterine growth retardation, Decreased response to growth hormone stimul... ORPHA:280651
Precocious Puberty, Male-Limited
Precocious puberty in males, Decreased testicular size OMIM:176410
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Panhypopituitarism, Anterior hypopituita... ORPHA:91350
Donohue Syndrome
Precocious puberty, Hyperinsulinemia, Severe failure to thrive, Ovarian cyst, Long penis, Pancrea... OMIM:246200
Generalized Glucocorticoid Resistance Syndrome
Infertility, Decreased circulating aldosterone level, Precocious puberty, Increased circulating c... ORPHA:786
Wolman Disease
Adrenal insufficiency, Growth delay, Cachexia, Adrenal calcification ORPHA:75233
Hypothyroidism Due To Tsh Receptor Mutations
Decreased circulating T4 concentration, Increased radioactive iodine uptake, Impaired sensitivity... ORPHA:90673
Intellectual Developmental Disorder, Autosomal Dominant 67
Hypothyroidism OMIM:619927
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Euthyroid multinodular goiter, Papillary thyroid carcinoma OMIM:138800
Methimazole Embryofetopathy
Hypothyroidism, Hypospadias, Abnormality of the thyroid gland, Intrauterine growth retardation ORPHA:1923
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Nodular goiter, Goiter, Papillary thyroid carcinoma ORPHA:97290
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Obesity, Postnatal growth retardation, Precocious puberty, Intrauterine growth retardation ORPHA:254525
Ascher Syndrome
Hypothyroidism, Goiter ORPHA:1253
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Intrauterine growth retardation, Precocious puberty, Maturity-onset diabetes of the young, Postna... ORPHA:254531
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Increased serum testosterone level, Congenital adrenal hyperplasia ORPHA:96181
Multiple Endocrine Neoplasia, Type Iv
Pituitary adenoma, Elevated circulating growth hormone concentration, Parathyroid adenoma, Carcin... OMIM:610755
Srd5A3-Cdg
Hypothyroidism, Decreased response to growth hormone stimulation test ORPHA:324737
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Severe short stature, Decreased response to growth hormone stimulation test OMIM:225755
Igg4-Related Thyroid Disease
Abnormality of the pituitary gland, Graves disease, Sialadenitis, Euthyroid goiter, Pancreatic fi... ORPHA:64744
Premature Ovarian Failure 11
Oligomenorrhea, Secondary amenorrhea, Elevated circulating follicle stimulating hormone level OMIM:616946
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Failure to thrive, Exocrine pancreatic insufficiency, Aplasia/Hypoplasia of the pancreas, Mild po... ORPHA:456312
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Short stature, Maturity-onset diabetes of the young, Small for gestational ag... ORPHA:96184
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Decreased response to growth hormone stimulation test, Short stature, Micropenis, Decreased testi... ORPHA:457240
Oculoskeletodental Syndrome
Hypothyroidism, Cryptorchidism, Small for gestational age, Short stature OMIM:618440
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency
Decreased body weight, Severe short stature, Decreased response to growth hormone stimulation tes... OMIM:618336
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Weight loss, Cachexia OMIM:612075
Allan-Herndon-Dudley Syndrome
Small for gestational age, Short stature, Decreased body mass index, Cryptorchidism, Abnormality ... ORPHA:59
Ciliary Dyskinesia, Primary, 40
Azoospermia, Infertility, Absent outer dynein arms OMIM:618300
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Hypothyroidism, Delayed puberty, Short stature ORPHA:2994
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia, Death in infancy ORPHA:157973
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Congenital Generalized Lipodystrophy
Amenorrhea, Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Oligomenorrhea, C... ORPHA:528
Thyroid Cancer, Nonmedullary, 4
Goiter, Non-medullary thyroid carcinoma OMIM:616534
Insulin Autoimmune Syndrome
Weight loss, Hyperinsulinemic hypoglycemia, Insulin-resistant diabetes mellitus ORPHA:411593
Aredyld Syndrome
Type II diabetes mellitus, Short stature, Cachexia, Type I diabetes mellitus, Intrauterine growth... ORPHA:1133
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia, Short stature ORPHA:1144
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche OMIM:614662
Joubert Syndrome 38
Decreased response to growth hormone stimulation test, Ectopic posterior pituitary, Decreased ser... OMIM:619476
Prader-Willi Syndrome
Hyperinsulinemia, External genital hypoplasia, Primary amenorrhea, Clitoral hypoplasia, Intrauter... OMIM:176270
African Trypanosomiasis
Infertility, Abnormality of the endocrine system, Miscarriage, Abnormal prolactin level, Abnormal... ORPHA:3385
Multiple Endocrine Neoplasia, Type I
Pituitary adenoma, Elevated circulating growth hormone concentration, Glucagonoma, Parathyroid ad... OMIM:131100
Martin-Probst Syndrome
Chordee, Micropenis, Bifid scrotum, Short stature, Hypoplastic nipples, Hypothyroidism, Cryptorch... OMIM:300519
Diabetes Insipidus, Neurohypophyseal, X-Linked
Central diabetes insipidus OMIM:304900
Microsporidiosis
Thyroiditis, Prostatitis, Pancreatitis, Abnormal endometrium morphology, Urethritis, Cachexia, Ab... ORPHA:2552
Whipple Disease
Hypothyroidism, Cachexia, Erectile dysfunction ORPHA:3452
Combined Oxidative Phosphorylation Deficiency 25
Decreased response to growth hormone stimulation test, Short stature OMIM:616430
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Decreased body weight, Small for gestational age, Severe postnatal growth retardation, Hypothyroi... ORPHA:391408
Mpi-Cdg
Hypothyroidism, Failure to thrive, Hyperinsulinemic hypoglycemia ORPHA:79319
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Hypothyroidism, Failure to thrive, Overweight, Diabetes mellitus ORPHA:391372
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Goiter, Weight loss, Hyperthyroidism OMIM:188580
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Decreased serum testosterone concentration, Eunuchoid habitus, Elevated circulating luteinizing h... ORPHA:3044
Bloom Syndrome
Growth delay, Type II diabetes mellitus, Postnatal growth retardation, Small for gestational age,... OMIM:210900
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating renin level, Glucocortocoid-insensitive primary hypera... ORPHA:231580
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Failure to thrive, Decreased response to growth hormone stimulation test, Short stature, Panhypop... OMIM:618922
Silver-Russell Syndrome 1
Decreased response to growth hormone stimulation test, Small for gestational age, Hypospadias, Te... OMIM:180860
Premature Ovarian Failure 14
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:618014
Inverted Duplicated Chromosome 15 Syndrome
Precocious puberty, Gonadal dysgenesis, Hypogonadism, Growth delay, Cryptorchidism ORPHA:3306
Thyroid Lymphoma
Hypothyroidism, Goiter, Hashimoto thyroiditis, Hyperthyroidism ORPHA:97285
Glutaric Aciduria Iii
Failure to thrive, Goiter, Hyperthyroidism OMIM:231690
Multiple Endocrine Neoplasia Type 4
Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, N... ORPHA:276152
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
15Q24 Microdeletion Syndrome
Failure to thrive, Decreased response to growth hormone stimulation test, Short stature, Small fo... ORPHA:94065
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Mullerian Aplasia And Hyperandrogenism
Amenorrhea, Abnormality of the endocrine system, Aplasia/Hypoplasia of the fallopian tube, Aplasi... OMIM:158330
H Syndrome
Amenorrhea, Micropenis, Short stature, Decreased testicular size, Diabetes mellitus, Delayed pube... ORPHA:168569
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Hypothyroidism, Hypohidrosis, Short stature ORPHA:1882
Smith-Magenis Syndrome
Precocious puberty, Short stature, Hypothyroidism, Delayed puberty, Obesity, Failure to thrive in... ORPHA:819
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hypothyroidism, Goiter, Hashimoto thyroiditis ORPHA:83601
Dilated Cardiomyopathy With Ataxia
Hypoplasia of penis, Hypothyroidism, Growth delay, Bilateral cryptorchidism, Perineal hypospadias... ORPHA:66634
Bannayan-Riley-Ruvalcaba Syndrome
Uterine neoplasm, Thyroid carcinoma, Short stature, Cachexia, Neoplasm of the adrenal cortex, Has... ORPHA:109
Ohdo Syndrome, Sbbys Variant
Hypothyroidism, Cryptorchidism OMIM:603736
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multinodular goiter ORPHA:2091
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Elevated circulating growth hormone concentration, Decreased serum insulin-like growth factor 1, ... ORPHA:85327
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Multinodular goiter OMIM:138790
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... ORPHA:2138
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Growth delay, Failure to thrive, Severe short stature, Thyroid dysgenesis, Ectopic thyroid, Hypot... ORPHA:3047
Monosomy 18Q
Slender build, Failure to thrive, Short stature, Micropenis, Hypothyroidism, Secondary growth hor... ORPHA:1600
Christianson Syndrome
Cachexia, Death in early adulthood ORPHA:85278
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Lipodystrophy Due To Peptidic Growth Factors Deficiency