Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
protein-tyrosine sulfotransferase 2
Synonyms:
grm,  grt,  Tango13b,  D5Ucla3

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 Tpst2 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 Tpst2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Thyroid Hormone Metabolism, Abnormal, 1
Increased circulating free T4 concentration, Short stature, Elevated circulating thyroid-stimulat... OMIM:609698
Pituitary Dwarfism With Large Sella Turcica
Growth delay, Pituitary dwarfism, Hypothyroidism, Decreased response to growth hormone stimulatio... OMIM:262710
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Thyroid Hormone Metabolism, Abnormal, 3
Increased circulating free T4 concentration, Elevated circulating reverse T3 concentration, Incre... OMIM:620198
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Hypothyroidism, Panhypopituitarism, Decreased response to growth hormone stimulation test, Short ... OMIM:300123
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Pituitary Hormone Deficiency, Combined, 4
Pituitary dwarfism, Short stature, Severe postnatal growth retardation, Adrenal insufficiency, Im... OMIM:262700
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Testicular Anomalies With Or Without Congenital Heart Disease
Corpus cavernosum hypoplasia, Abnormality of thyroid physiology, Cryptorchidism, Testicular dysge... OMIM:615542
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Wolfram-Like Syndrome
Diabetes mellitus, Severe postnatal growth retardation, Primary gonadal insufficiency, Delayed pu... ORPHA:411590
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Short stature, Reduced circulating prolactin concent... OMIM:262600
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Growth delay, Hypogonadism... ORPHA:3363
Hyperthyroxinemia, Familial Dysalbuminemic
Euthyroid hyperthyroxinemia, Increased circulating free T4 concentration OMIM:615999
Pituicytoma
Decreased serum testosterone concentration, Decreased female libido, Hypogonadotropic hypogonadis... ORPHA:251623
Precocious Puberty, Central, 1
Short stature, Elevated circulating luteinizing hormone level, Isosexual precocious puberty, Elev... OMIM:176400
Hypothyroidism, Central, With Testicular Enlargement
Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Inappropriately normal t... OMIM:300888
Thyroid Dyshormonogenesis 2A
Decreased circulating T4 concentration, Hypothyroidism, Thyroid defect in oxidation and organific... OMIM:274500
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size ORPHA:98797
Joubert Syndrome 26
Short stature, Decreased response to growth hormone stimulation test, Central hypothyroidism, Mic... OMIM:616784
Thyroid Dyshormonogenesis 6
Hypothyroidism, Congenital hypothyroidism OMIM:607200
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Hypothyroidism, Congenital, Nongoitrous, 8
Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l... OMIM:301033
Thyroid Dyshormonogenesis 5
Growth delay, Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Growth delay, Hypothyroidism, Goiter OMIM:274800
Pituitary Stalk Interruption Syndrome
Hypoplasia of penis, Ectopic posterior pituitary, Short stature, Adrenal hypoplasia, Cryptorchidi... ORPHA:95496
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Bangstad Syndrome
Short stature, Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increa... ORPHA:1227
Polyendocrine-Polyneuropathy Syndrome
Hypoinsulinemia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Postnatal growth r... ORPHA:453533
Thyrotropin-Releasing Hormone Deficiency
Hypothalamic hypothyroidism, Short stature, Hypothyroidism OMIM:275120
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Short stature, Postnatal growth ret... OMIM:616113
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... OMIM:619326
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Thyroid Dyshormonogenesis 3
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter OMIM:274700
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypogonadotropic hypogonadism, Cryptorchidism, Male pseudohermaphroditism, Infertility, Ambiguous... ORPHA:752
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:90695
Spermatogenic Failure, X-Linked, 6
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... OMIM:301101
Hypothyroidism, Congenital, Nongoitrous, 9
Inappropriately normal thyroid-stimulating hormone level, Short stature, Central hypothyroidism, ... OMIM:301035
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... ORPHA:399808
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Small pituitary gland, Decreased response to growth hormone stimula... OMIM:615925
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... OMIM:616950
Neurodevelopmental Disorder With Language Delay And Seizures
Growth delay, Cryptorchidism, Hypothyroidism, Hypothalamic hamartoma OMIM:619908
Hypothyroidism, Congenital, Nongoitrous, 7
Growth delay, Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Short stat... OMIM:618573
Rothmund-Thomson Syndrome, Type 1
Male hypogonadism, Premature ovarian insufficiency, Short stature, Hypothyroidism OMIM:618625
Isolated Growth Hormone Deficiency, Type Iv
Decreased serum insulin-like growth factor 1, Severe short stature, Decreased response to growth ... OMIM:618157
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Short stature, Anterior pituitary hypoplasia, Reduce... OMIM:613038
Fetal Iodine Syndrome
Hypothyroidism ORPHA:1910
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia OMIM:619949
Congenital Atransferrinemia
Hypothyroidism ORPHA:1195
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Hypothyroidism, Congenital, Nongoitrous, 4
Decreased thyroid-stimulating hormone level, Severe postnatal growth retardation, Hypothyroidism,... OMIM:275100
Hyperthyroxinemia, Dystransthyretinemic
Euthyroid hyperthyroxinemia OMIM:145680
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Male pseudohermaphroditism, Hypothyroidism, Infertility, Female external genitalia in individual ... OMIM:264300
Hypothyroidism, Congenital, Nongoitrous, 5
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... OMIM:225250
Spermatogenic Failure 14
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... OMIM:615842
Hypothyroidism, Congenital, Nongoitrous, 1
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi... OMIM:275200
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Increased circulating free T3, Increased circulating free T4 concentration, Impaired sensitivity ... OMIM:188570
Li-Campeau Syndrome
Cryptorchidism, Micropenis, Short stature, Hypothyroidism OMIM:619189
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Hypothyroidism OMIM:619647
Pituitary Adenoma 1, Multiple Types
Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc... OMIM:102200
Spermatogenic Failure 38
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... OMIM:618433
Hyperinsulinemic Hypoglycemia, Familial, 8
Short stature, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, ... OMIM:620211
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... ORPHA:99886
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... OMIM:229070
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Decreased circulating cortisol level, Precocious puberty, Cryptorchidism, Abnormal circulating re... OMIM:614736
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... OMIM:620356
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism OMIM:228355
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Cryptorchidism, Hypothyroidism OMIM:613970
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased circulating free T4 concentration, Diabetes mellitus, Elevated circulating thyroid-stim... OMIM:274300
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size ORPHA:98798
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:95494
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia OMIM:301060
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Small pituitary gland, Delayed... OMIM:612702
Isolated Growth Hormone Deficiency, Type Ii
Decreased serum insulin-like growth factor 1, Pituitary dwarfism, Severe short stature, Decreased... OMIM:173100
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... OMIM:610755
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... OMIM:308750
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Small pituitary gland, Micropenis, Decreased testicular size OMIM:614880
Potocki-Shaffer Syndrome
Micropenis, Hypothyroidism, Delayed puberty ORPHA:52022
Thyroid Dyshormonogenesis 1
Growth delay, Hypothyroidism, Goiter OMIM:274400
Athyreosis
Growth delay, Hypothyroidism, Short stature, Thyroid agenesis ORPHA:95713
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Primary amenorrhea, ... OMIM:273250
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Pituitary Carcinoma
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... ORPHA:300385
Maternal Uniparental Disomy Of Chromosome 2
Premature ovarian insufficiency, Hypospadias, Decreased response to growth hormone stimulation te... ORPHA:96179
Pendred Syndrome
Compensated hypothyroidism, Thyroid carcinoma, Goiter OMIM:274600
Galloway-Mowat Syndrome 6
Short stature, Decreased response to growth hormone stimulation test, Growth delay, Intrauterine ... OMIM:618347
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... OMIM:228300
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Hypothyroidism, Hypoplasia of penis, Short stature, Uterus didelphys ORPHA:2491
Congenital Macroglossia
Hypothyroidism ORPHA:2430
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Silver-Russell Syndrome Due To A Point Mutation
Bifid scrotum, Hypospadias, Dysmenorrhea, Postnatal growth retardation, Cryptorchidism, Abnormali... ORPHA:397590
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone... OMIM:616030
Dystonia 28
Precocious puberty, Hypothyroidism, Short stature ORPHA:589618
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, El... ORPHA:95716
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypospadias, Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Postnatal... OMIM:614732
Hypothyroidism, Congenital, Nongoitrous, 6
Growth delay, Impaired sensitivity to thyroid hormone, Increased T3/T4 ratio, Congenital hypothyr... OMIM:614450
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Congenital adrenal hypoplasia, Cryptorchidism, Micropenis, Decreased circulating luteinizing horm... OMIM:202150
Thyroid Hormone Resistance, Selective Pituitary
Impaired sensitivity to thyroid hormone, Hyperthyroidism, Elevated circulating thyroid-stimulatin... OMIM:145650
Panhypophysitis
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... ORPHA:95513
Acrodysostosis 2 With Or Without Hormone Resistance
Diabetes mellitus, Hypospadias, Cryptorchidism, Congenital hypothyroidism, Mild short stature, In... OMIM:614613
X-Linked Acrogigantism
Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Elevated circulating growt... ORPHA:300373
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... OMIM:614841
Gne Myopathy
Hypothyroidism ORPHA:602
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Short stature, Cryptorchidism, Growth delay, Delayed puberty, Intrauterine growth retardation, Hy... OMIM:616817
Adenohypophysitis
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... ORPHA:95512
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... OMIM:620303
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum testosterone concentration, Cryptorchidism, Primary amenorrhea, Decreased circula... OMIM:614897
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Hypothyroidism, Short stature ORPHA:2349
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Growth delay, Hypoplasia of penis, Decreased response to growth hormone stimulation test, Congeni... OMIM:601427
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Streak ovary, Premature ovarian insufficiency, Decrea... ORPHA:3464
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Growth delay, Azoospermia, Hypogonadism, Adrenal insufficiency, Abnormality of the hypothalamus-p... ORPHA:300298
Maternal Uniparental Disomy Of Chromosome 9
Intrauterine growth retardation, Congenital hypothyroidism ORPHA:96183
Bamforth-Lazarus Syndrome
Thyroid agenesis, Congenital hypothyroidism OMIM:241850
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Female infertility, Goiter OMIM:617577
Thyroid Lymphoma
Hyperthyroidism, Hypothyroidism, Hashimoto thyroiditis, Goiter ORPHA:97285
Pseudohypoparathyroidism, Type Ic
Short stature, Elevated circulating thyroid-stimulating hormone concentration, Pseudohypoparathyr... OMIM:612462
Wolfram Syndrome 1
Diabetes mellitus, Diabetes insipidus, Growth delay, Hypothyroidism, Testicular atrophy OMIM:222300
Temple Syndrome
Short stature, Decreased response to growth hormone stimulation test, Precocious puberty, Cryptor... ORPHA:254516
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Congenital Disorder Of Glycosylation, Type Ih
Decreased circulating T4 concentration, Cryptorchidism, Hypothyroidism, Intrauterine growth retar... OMIM:608104
Hawkinsinuria
Hypothyroidism ORPHA:2118
Prolactinoma
Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed puberty, ... ORPHA:2965
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Decreased serum insulin-like growth factor 1, Short stature, Postnatal growth retardation, Thyroi... OMIM:618985
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Postnatal growth retardation, Short stature, Decreased response to growth hormone stimulation tes... OMIM:618160
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... ORPHA:98754
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:618841
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... ORPHA:361
Intellectual Developmental Disorder, Autosomal Dominant 67
Hypothyroidism OMIM:619927
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia OMIM:277180
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland morphology, Gra... ORPHA:64744
Multifocal Atrial Tachycardia
Cryptorchidism, Hypothyroidism ORPHA:3282
Allan-Herndon-Dudley Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism OMIM:300523
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Hypothyroidism, Short stature, Hypohidrosis ORPHA:1882
Methimazole Embryofetopathy
Abnormality of the thyroid gland, Intrauterine growth retardation, Hypospadias, Hypothyroidism ORPHA:1923
Cowden Syndrome 5
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Go... OMIM:615108
Deiodinase, iodothyronine, type I
Euthyroid hyperthyroxinemia, Goiter OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Euthyroid hyperthyroxinemia, Goiter OMIM:188560
Ascher Syndrome
Hypothyroidism, Goiter ORPHA:1253
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... ORPHA:98793
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypothyroidism, Hypopituitarism, Short stature OMIM:619013
Hyperthyroidism, Familial Gestational
Decreased thyroid-stimulating hormone level, Increased circulating T4 concentration, Hyperthyroidism OMIM:603373
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone con... ORPHA:99832
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:231720
Cowden Syndrome 6
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Va... OMIM:615109
Leukodystrophy, Hypomyelinating, 24
Severe short stature, Hypothyroidism OMIM:619851
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... ORPHA:177904
Pituitary Hormone Deficiency, Combined, 3
Pituitary dwarfism, Short stature, Decreased response to growth hormone stimulation test, Anterio... OMIM:221750
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Hypogonadotropic hypogonadism, Short stature, Central adrenal insufficiency, Small pituitary glan... OMIM:612079
Culler-Jones Syndrome
Ectopic posterior pituitary, Short stature, Anterior pituitary hypoplasia, Cryptorchidism, Microp... OMIM:615849
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... ORPHA:177901
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Sim1-Related Prader-Willi-Like Syndrome
Hypothalamic luteinizing hormone-releasing hormone deficiency, Small scrotum, Hypogonadotropic hy... ORPHA:398079
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth... OMIM:613239
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... ORPHA:91351
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Short stature, Decrease... OMIM:613986
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Decreased circula... ORPHA:95715
Intellectual Disability-Strabismus Syndrome
Decreased serum insulin-like growth factor 1, Hypospadias, Decreased response to growth hormone s... ORPHA:363528
Hypothyroidism Due To Tsh Receptor Mutations
Reduced radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentration... ORPHA:90673
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Premature ovarian insufficiency, Female hypogonadism, Decreased circulating p... OMIM:240300
4H Leukodystrophy
Hypogonadotropic hypogonadism, Abnormality of thyroid physiology, Decreased response to growth ho... ORPHA:289494
Mccune-Albright Syndrome
Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... OMIM:174800
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... OMIM:300845
Reni Syndrome
Cryptorchidism, Hypogonadism, Adrenal insufficiency, Micropenis, Hypothyroidism OMIM:617575
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Bifid scrotum, Hypoplasia of penis, Short stature, Cryptorchidism, Hypothyroidism ORPHA:85321
Pendred Syndrome
Hypothyroidism, Hyperparathyroidism, Thyroid carcinoma, Goiter ORPHA:705
Gangliocytoma
Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent... ORPHA:251937
Bamforth-Lazarus Syndrome
Thyroid agenesis, Congenital hypothyroidism ORPHA:1226
Pseudohypoparathyroidism, Type Ia
Short stature, Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, Hypogona... OMIM:103580
Seckel Syndrome 7
Severe short stature, Primary amenorrhea, Central hypothyroidism, Hypoplasia of the uterus, Intra... OMIM:614851
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Hypothyroidism, Short stature, Delayed puberty ORPHA:2994
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Prader-Willi Syndrome
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... ORPHA:739
Thyroid Hypoplasia
Growth delay, Hypothyroidism, Short stature, Thyroid hypoplasia ORPHA:95720
Lig4 Syndrome
Hypoplasia of penis, Cryptorchidism, Growth delay, Type II diabetes mellitus, Hypothyroidism ORPHA:99812
Autoimmune Polyendocrinopathy Type 2
Hypoparathyroidism, Abnormality of the thyroid gland, Primary adrenal insufficiency, Hypogonadism... ORPHA:3143
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Obstructive azoospermia, Oligozoospermia ORPHA:48
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Congenital hypothyroidism ORPHA:88643
Lig4 Syndrome
Cryptorchidism, Type II diabetes mellitus, Micropenis, Hypothyroidism, Amenorrhea OMIM:606593
Cowden Syndrome 1
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Thyroid adenoma,... OMIM:158350
Acrodysostosis 1 With Or Without Hormone Resistance
Mild postnatal growth retardation, Short stature, Cryptorchidism, Elevated circulating thyroid-st... OMIM:101800
Ring Chromosome 12 Syndrome
Cryptorchidism, Glandular hypospadias, Growth delay, Uterine leiomyoma, Hypothyroidism, Breast hy... ORPHA:1439
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Infertility, Erectile dysfuncti... ORPHA:465508
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... ORPHA:91347
Alstrom Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Short stat... OMIM:203800
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... ORPHA:2232
Dahlberg-Borer-Newcomer Syndrome
Hypoparathyroidism, Hypothyroidism, Short stature, Hypohidrosis ORPHA:1563
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Hypothyroidism ORPHA:663
Dilated Cardiomyopathy With Ataxia
Hypoplasia of penis, Bilateral cryptorchidism, Perineal hypospadias, Growth delay, Intrauterine g... ORPHA:66634
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Hypogonadism, Infertility, Oligomenorrhea, Type II diabetes mellitus, Type I diabetes mellitus, D... ORPHA:412057
Insulin-Like Growth Factor I Deficiency
Decreased serum insulin-like growth factor 1, Short stature, Elevated circulating growth hormone ... OMIM:608747
Intellectual Developmental Disorder, Autosomal Dominant 52
Bilateral cryptorchidism, Cryptorchidism, Hypothyroidism OMIM:617796
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Abnormal respiratory motile cilium morphology, Primary hypothyroidism OMIM:225050
Testicular Agenesis
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... ORPHA:325124
Isolated Atp Synthase Deficiency
Hypothyroidism, Hypogonadism, Short stature ORPHA:254913
14Q11.2 Microduplication Syndrome
Hypothyroidism ORPHA:261229
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Decreased circulating T4 concentration, Congenital hypothyroidism, Elevated circulating thyroid-s... ORPHA:226313
Developmental And Epileptic Encephalopathy 90
Hypothyroidism OMIM:301058
Rabson-Mendenhall Syndrome
Enlarged ovaries, Short stature, Precocious puberty, Hypothyroidism, Insulin-resistant diabetes m... ORPHA:769
Microform Holoprosencephaly
Hypoplasia of penis, Short stature, Maternal diabetes, Hypothyroidism, Ambiguous genitalia, Intra... ORPHA:280200
Hypothyroidism, Congenital, Nongoitrous, 2
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... OMIM:218700
Srd5A3-Cdg
Hypothyroidism, Decreased response to growth hormone stimulation test ORPHA:324737
Magel2-Related Prader-Willi-Like Syndrome
Hypothalamic luteinizing hormone-releasing hormone deficiency, Small scrotum, Short stature, Exte... ORPHA:398069
19P13.12 Microdeletion Syndrome
Hypospadias, Precocious puberty, Cryptorchidism, Intrauterine growth retardation, Hypothyroidism ORPHA:254346
Multiple Endocrine Neoplasia, Type I
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Pituitary adeno... OMIM:131100
Martin-Probst Syndrome
Bifid scrotum, Short stature, Cryptorchidism, Chordee, Hypoplastic nipples, Micropenis, Hypothyro... OMIM:300519
Chromosome 1P35 Deletion Syndrome
Cryptorchidism, Congenital hypothyroidism, Short stature, Intrauterine growth retardation OMIM:617930
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Diabetes mellitus, Proportionate short stature, Severe postnatal growth retardation, Delayed pube... ORPHA:391408
Bone Marrow Failure Syndrome 5
Hypogonadism, Growth delay, Testicular atrophy, Short stature OMIM:618165
Acetazolamide-Responsive Myotonia
Hypothyroidism ORPHA:99736
Oculoskeletodental Syndrome
Cryptorchidism, Short stature, Hypothyroidism OMIM:618440
Ohdo Syndrome, Sbbys Variant
Cryptorchidism, Hypospadias, Hypothyroidism OMIM:603736
Late-Onset Familial Hypoaldosteronism
Abnormal external genitalia, Postnatal growth retardation, Abnormal circulating corticosterone le... ORPHA:556037
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Short stature, Decreas... ORPHA:67045
Morgagni-Stewart-Morel Syndrome
Abnormality of the endocrine system, Diabetes mellitus, Hypothyroidism, Abnormality of the thyroi... ORPHA:77296
Potocki-Lupski Syndrome
Hypothyroidism, Short stature OMIM:610883
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Short stature, Decreased response to growth hormone stimulation test, Growth delay, Delayed puber... OMIM:619234
Mpi-Cdg
Hypothyroidism, Hyperinsulinemic hypoglycemia ORPHA:79319
Stiff Person Spectrum Disorder
Diabetes mellitus, Hypothyroidism, Hyperhidrosis ORPHA:3198
Aarskog-Scott Syndrome
Short stature, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorc... OMIM:305400
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Macroorchidism, Oligozoospermia ORPHA:3000
Ring Chromosome Y Syndrome
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ob... ORPHA:261529
Sheehan Syndrome
Dyspareunia, Decreased circulating cortisol level, Decreased female libido, Reduced circulating p... ORPHA:91355
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Diabetes mellitus, Hypothyroidism ORPHA:391372
Congenital Disorder Of Glycosylation, Type Ii
Hypothyroidism, Short stature OMIM:607906
Atelis Syndrome 1
Hypothyroidism OMIM:620184
Allan-Herndon-Dudley Syndrome
Cryptorchidism, Short stature, Abnormality of thyroid physiology ORPHA:59
Hemochromatosis, Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... OMIM:235200
Short Stature, Microcephaly, And Endocrine Dysfunction
Diabetes mellitus, Short stature, Cryptorchidism, Disproportionate short-limb short stature, Intr... OMIM:616541
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Prop... ORPHA:54595
Early-Onset Familial Hypoaldosteronism
Abnormal external genitalia, Postnatal growth retardation, Abnormal circulating corticosterone le... ORPHA:556030
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Congenital hypothyroidism ORPHA:352530
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Diabetes mellitus, Mild postnatal growth retardation, Aplasia/Hypoplasia of the pancreas, Hyperec... ORPHA:456312
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Hyperthyroidism, Elevated circulating growth hormone concentrati... ORPHA:562
Fanconi Anemia, Complementation Group I
Hypothyroidism, Intrauterine growth retardation, Short stature, Decreased response to growth horm... OMIM:609053
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Autosomal Dominant Optic Atrophy, Classic Form
Hypothyroidism, Diabetes mellitus, Hypogonadism ORPHA:98673
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit... ORPHA:91350
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypoplasia of penis, Supernumerary nipple, Cryptorchidism, Hypohidrosis, Hypothyroidism ORPHA:1812
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... OMIM:610978
Hyperthyroidism, Nonautoimmune
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating free T3, Thyr... OMIM:609152
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Cryptorchidism, Micropenis, Supernumerary nipple, Congenital hypothyroidism ORPHA:2519
Chromosome 2Q37 Deletion Syndrome
Hypothyroidism, Short stature OMIM:600430
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Short stature, Delayed puberty, Type I diabetes mellitus, Hypothyroidism, Exocrine pancreatic ins... OMIM:615952
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Hypothyroidism, Panhypopituitarism, Decreased response to growth hormone stimulation test, Short ... OMIM:618922
Thyroid Ectopia
Short stature, Abnormality of the thyroid gland, Growth delay, Ectopic thyroid, Hypothyroidism ORPHA:95712
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hypothyroidism, Short stature OMIM:619750
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hypothyroidism, Hashimoto thyroiditis, Goiter ORPHA:83601
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Autoinflammation, Immune Dysregulation, And Eosinophilia
Hypothyroidism, Short stature OMIM:618999
Subcorneal Pustular Dermatosis
Hyperthyroidism, Hypothyroidism ORPHA:48377
Cystinosis
Short stature, Nephrogenic diabetes insipidus, Delayed puberty, Type I diabetes mellitus, Hypothy... ORPHA:213
Ddost-Cdg
Short stature, Primary hypothyroidism ORPHA:300536
Poems Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Primary adrenal insufficiency, Hypogonadi... ORPHA:2905
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Pituitary hy... ORPHA:90674
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Dyskeratosis Congenita, Autosomal Recessive 2
Growth delay, Testicular atrophy OMIM:613987
Fragile X Tremor/Ataxia Syndrome
Impotence, Premature ovarian insufficiency, Hypothyroidism OMIM:300623
Monosomy 18P
Hypothyroidism, Short stature ORPHA:1598
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Hypospadias, Short stature, Bilateral cryptorchidism, Cryptorchidism, Central hypothyroidism, Gro... OMIM:300998
Hydatidiform Mole
Hyperthyroidism, Menometrorrhagia, Enlarged uterus ORPHA:99927
Familial Multinodular Goiter
Hyperthyroidism, Multinodular goiter, Ovarian neoplasm, Thyroid carcinoma, Testicular seminoma, S... ORPHA:276399
Koolen-De Vries Syndrome
Cryptorchidism, Hypospadias, Hypothyroidism, Short stature ORPHA:96169
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Hypothyroidism, Short stature OMIM:617763
Diarrhea 10, Protein-Losing Enteropathy Type
Cryptorchidism, Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism OMIM:618183
Genetic Transient Congenital Hypothyroidism
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... ORPHA:226316
Smith-Magenis Syndrome
Precocious puberty, Hypothyroidism, Short stature, Delayed puberty ORPHA:819
Mosaic Variegated Aneuploidy Syndrome 2
Rhizomelia, Short stature, Decreased response to growth hormone stimulation test, Growth delay, S... OMIM:614114
Monosomy 18Q
Short stature, Bilateral cryptorchidism, Growth delay, Micropenis, Hypothyroidism, Secondary grow... ORPHA:1600
Beta-Thalassemia Intermedia
Hypoparathyroidism, Diabetes mellitus, Hypogonadism, Adrenal insufficiency, Cholelithiasis, Hypot... ORPHA:231222
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Increased mitochondrial number, Diabetes mellitus, Hypothyroidism ORPHA:263297
Jung Syndrome
Hypothyroidism ORPHA:2321
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Testicular atrophy OMIM:160900
Nephrotic Syndrome, Type 1
Growth delay, Hypothyroidism OMIM:256300
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Hypospadias, Short stature, Abnorma... ORPHA:209905
Wolcott-Rallison Syndrome
Neonatal insulin-dependent diabetes mellitus, Short stature, Central hypothyroidism, Growth delay... ORPHA:1667
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Diabetes mellitus, Pancreatic fibrosis, Short stature, Postnatal growth retardation, Delayed pube... OMIM:616263
Dominant Beta-Thalassemia
Hypoparathyroidism, Diabetes mellitus, Growth delay, Adrenal insufficiency, Delayed puberty, Hypo... ORPHA:231226
Aa Amyloidosis
Hypothyroidism, Adrenal insufficiency ORPHA:85445
Giant Axonal Neuropathy
Abnormal pituitary gland morphology ORPHA:643
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Pituitary dwarfism, Hyp... ORPHA:226307
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Hypothyroidism ORPHA:90065
B4Galt1-Cdg
Hypothyroidism ORPHA:79332
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Intrauterine growth retardation, Posterior pituitary hypoplasia, Abnormality of the anterior pitu... ORPHA:75389
Immunodeficiency 102
Hypothyroidism OMIM:301082
Tbck-Related Intellectual Disability Syndrome
Hyperthyroidism, Decreased response to growth hormone stimulation test, Cryptorchidism, Central a... ORPHA:488632
Glutaric Aciduria Iii
Hyperthyroidism, Goiter OMIM:231690
Nabais Sa-De Vries Syndrome, Type 2
Hypothyroidism OMIM:618829
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Thyroid dysgenesis, Severe short stature, Thyroid agenesis, Cryptorchidism, Growth delay, Ectopic... ORPHA:3047
Mogs-Cdg
Hydrocele testis, Hypothyroidism, External genital hypoplasia, Inappropriate antidiuretic hormone... ORPHA:79330
Lymphatic Malformation 6
Hydrocele testis, Hypothyroidism, Short stature OMIM:616843
Joubert Syndrome 38
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Short stature, Decreas... OMIM:619476
Distal Xq28 Microduplication Syndrome
Hypothyroidism, Short stature ORPHA:293939
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Intrahepatic Cholestasis Of Pregnancy
Abnormal pineal melatonin secretion, Hypothyroidism ORPHA:69665
Neurooculorenal Syndrome
Ectopic posterior pituitary, Decreased circulating cortisol level, Postnatal growth retardation, ... OMIM:620305
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Absent vas deferens, Hypospadias, Diabetes mellitus, Aplasia/Hypoplasia of the pancreas, Papillar... ORPHA:93111
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Type I diabetes mellitus, Hypothyroidism, Short stature, Hashimoto thyroiditis OMIM:613385
Beta-Thalassemia Major
Hypoparathyroidism, Diabetes mellitus, Growth delay, Adrenal insufficiency, Delayed puberty, Hypo... ORPHA:231214
Bone Marrow Failure Syndrome 6
Hypothyroidism OMIM:618849
Omenn Syndrome
Hypothyroidism, Thyroiditis ORPHA:39041
Timothy Syndrome
Hypothyroidism OMIM:601005
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hyperthyroidism, Goiter OMIM:188580
Developmental And Epileptic Encephalopathy 108
Small pituitary gland OMIM:620115
Adiposis Dolorosa
Hypothyroidism, Xerostomia ORPHA:36397
Familial Gestational Hyperthyroidism
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... ORPHA:99819
Aicardi-Goutieres Syndrome 1
Hypothyroidism, Short stature, Diabetes insipidus OMIM:225750
Autoimmune Polyendocrine Syndrome, Type Ii
Hyperthyroidism, Primary adrenal insufficiency, Thymoma, Type II diabetes mellitus, Hypothyroidis... OMIM:269200
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Growth delay, Hypothyroidism OMIM:619147
Spondyloenchondrodysplasia
Hypothyroidism, Short stature, Decreased response to growth hormone stimulation test, Disproporti... ORPHA:1855
Combined Oxidative Phosphorylation Deficiency 33
Intrauterine growth retardation, Hypothyroidism OMIM:617713
Down Syndrome
Type II diabetes mellitus, Hypothyroidism, Decreased fertility ORPHA:870
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... ORPHA:424
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Diabetes mellitus, Hyperthyroidism, Hypothyroidism ORPHA:449291
Aicardi-Goutieres Syndrome 9
Intrauterine growth retardation, Micropenis, Hypothyroidism, Acute pancreatitis OMIM:619487
Galloway-Mowat Syndrome 10
Congenital hypothyroidism OMIM:619609
3-Methylglutaconic Aciduria Type 7
Growth delay, Hypothyroidism ORPHA:445038
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Growth delay, Hypothyroidism OMIM:226300
Melas
Hypoparathyroidism, Diabetes mellitus, Hypogonadotropic hypogonadism, Short stature, Recurrent pa... ORPHA:550
Congenital Disorder Of Glycosylation, Type Iiq
Small pituitary gland OMIM:617395
Megalocornea-Intellectual Disability Syndrome
Hypothyroidism, Short stature ORPHA:2479
Anemia, Congenital Dyserythropoietic, Type Iv
Hypothyroidism, Micropenis, Hypospadias, Short stature OMIM:613673
Cog2-Cdg
Small pituitary gland ORPHA:435934
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Cryptorchidism, Hypothyroidism, Intrauterine growth retardation ORPHA:453499
Whipple Disease
Hypothyroidism, Erectile dysfunction ORPHA:3452
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Type I diabetes mellitus, Hypothyroidism OMIM:304790
Immunodeficiency, Common Variable, 8, With Autoimmunity
Growth delay, Hypothyroidism, Thyroiditis, Type I diabetes mellitus OMIM:614700
Rothmund-Thomson Syndrome Type 1
Premature ovarian insufficiency, Short stature, Cryptorchidism, Growth delay, Hypogonadism, Hypot... ORPHA:221008
Secondary Short Bowel Syndrome
Growth delay, Primary hypothyroidism, Central hypothyroidism ORPHA:95427
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hypospadias, Decreased response to growth hormone stimulation test, Premature thelarche, Short st... ORPHA:268261
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Cryptorchidism, Severe postnatal growth retardation, Intrauterine growth retardation, Hypothyroid... OMIM:620005
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Intrauterine growth retardation, Short stature, Hypothyroidism OMIM:618005
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Hypothyroidism, Premature thelarche, Premature pubarche OMIM:616878
Meningioma
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hy... ORPHA:2495
Autosomal Dominant Kenny-Caffey Syndrome
Short stature, Postnatal growth retardation, Growth delay, Intrauterine growth retardation, Conge... ORPHA:93325
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Type I diabetes mellitus, Hypothyroidism, Thyroiditis OMIM:606367
Myopathy, Mitochondrial, And Ataxia
Hyperthyroidism, Short stature, Primary amenorrhea, Growth delay, Increased circulating prolactin... OMIM:617675
Isolated Biliary Atresia
Atretic gallbladder, Hypothyroidism, Hypopituitarism, Bile duct proliferation ORPHA:30391
Fucosidosis
Hypothyroidism, Hyperhidrosis ORPHA:349
Cenani-Lenz Syndrome
Hypothyroidism ORPHA:3258
Fibrous Dysplasia Of Bone
Hyperthyroidism, Precocious puberty in females, Short stature, Testicular neoplasm, Elevated circ... ORPHA:249
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Diabetes mellitus, Pancreatic cysts, Elevated circulating thyroid-stimulating hormone concentrati... OMIM:610199
Ventilator-Induced Diaphragmatic Dysfunction
Hypothyroidism ORPHA:505395
Hallermann-Streiff Syndrome
Cryptorchidism, Hypothyroidism, Proportionate short stature ORPHA:2108
Classic Galactosemia
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism... ORPHA:79239
Familial Adenomatous Polyposis
Pancreatic adenocarcinoma, Abnormality of the thyroid gland, Pituitary adenoma, Thyroiditis, Neop... ORPHA:733
Congenital Disorder Of Glycosylation, Type Ia
Hypothyroidism, Premature ovarian insufficiency, Hypergonadotropic hypogonadism OMIM:212065
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Absent nipple, Aplasia of the thymus, Short stature, Congenital hypothyroidism, Hydrocele testis,... OMIM:620186
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Hyperthyroidism, Short stature, Primary amenorrhea, Growth delay, Increased circulating prolactin... ORPHA:502423
Koolen-De Vries Syndrome Due To A Point Mutation
Hypospadias, Decreased response to growth hormone stimulation test, Testicular neoplasm, Precocio... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Testicular neoplasm, Precocio... ORPHA:363958
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Type I diabetes mellitus, Hypothyroidism, Thyroiditis ORPHA:228426
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Decreased res... ORPHA:293978
Leprechaunism
Enlarged ovaries, Overgrowth of external genitalia, Postnatal growth retardation, Labial hypertro... ORPHA:508
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Hypothyroidism OMIM:251900
Alexander Disease
Precocious puberty, Diabetes mellitus, Hypothyroidism, Hyperhidrosis ORPHA:58
Pearson Syndrome
Hypoparathyroidism, Diabetes mellitus, Pancreatic fibrosis, Decreased response to growth hormone ... ORPHA:699
Neuhauser Syndrome
Short stature, Primary hypothyroidism OMIM:249310
Fragile X-Associated Tremor/Ataxia Syndrome
Impotence, Hypothyroidism ORPHA:93256
T-Cell Immunodeficiency With Thymic Aplasia
Hypothyroidism, Aplasia of the thymus, Thyroiditis ORPHA:83471
Mosaic Variegated Aneuploidy Syndrome
Short stature, Vaginal neoplasm, Growth delay, Ambiguous genitalia, Intrauterine growth retardati... ORPHA:1052
Cutis Marmorata Telangiectatica Congenita
Displacement of the urethral meatus, Hypothyroidism, Intrauterine growth retardation ORPHA:1556
Dysbetalipoproteinemia
Acute pancreatitis, Diabetes mellitus, Hypothyroidism ORPHA:412
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Short stature, Irregular menstruation, Thyroiditis, Polycystic ovaries, Growth delay, Menorrhagia... ORPHA:79259
Ciliary Dyskinesia, Primary, 18
Male infertility, Immotile sperm OMIM:614874
Xq21 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Postnatal growth retardation, Adrenocortic... ORPHA:1435
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Gabriele-De Vries Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Intrauterine growth retard... ORPHA:506358
Autosomal Dominant Dopa-Responsive Dystonia
Hypothyroidism ORPHA:98808
Acrocardiofacial Syndrome
Hypoplasia of penis, Hyperthyroidism, Hypospadias, Cryptorchidism, Intrauterine growth retardation ORPHA:2008
Immunodeficiency 31C
Diabetes mellitus, Short stature, Growth delay, Delayed puberty, Hypothyroidism OMIM:614162
Autosomal Dominant Progressive External Ophthalmoplegia
Diabetes mellitus, Hyperthyroidism, Hypothyroidism, Goiter ORPHA:254892
Lesch-Nyhan Syndrome
Testicular atrophy, Short stature OMIM:300322
Tuberous Sclerosis 1
Precocious puberty, Hypothyroidism, Adenoma sebaceum OMIM:191100
Ciliary Dyskinesia, Primary, 14
Male infertility, Reduced sperm motility, Immotile sperm OMIM:613807
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Supernumerary nipple, Cryptorchidism, Hyperhidrosis, Growth delay, Hypothyroidism ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Supernumerary nipple, Cryptorchidism, Hyperhidrosis, Growth delay, Hypothyroidism ORPHA:352665
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hyperthyroidism, Abnormality of the endocrine system, Thyroiditis, Type I diabetes mellitus, Hypo... ORPHA:37042
Trichohepatoneurodevelopmental Syndrome
Recurrent pancreatitis, Hypoplastic nipples, Cholelithiasis, Hypothyroidism, Exocrine pancreatic ... OMIM:618268
Acute Monoblastic/Monocytic Leukemia
Central hypothyroidism ORPHA:514
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... OMIM:157640
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
Endometrial carcinoma, Hypothyroidism ORPHA:457212
Autoimmune Polyendocrinopathy Type 3
Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Xerostomia, Primary adrenal insuff... ORPHA:227982
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Short stature, Precocious puberty, Cryptorchidism, Abnormality of the endocrine system, Abnormali... ORPHA:438213
Spondyloenchondrodysplasia With Immune Dysregulation
Hypothyroidism, Short stature OMIM:607944
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Hyperthyroidism, Hypospadias, Short stature, Cryptorchidism, Hypoplasia of th... ORPHA:567
Schimke Immuno-Osseous Dysplasia
Short stature, Abnormality of thyroid physiology, Disproportionate short-trunk short stature, Gro... ORPHA:1830
Autoimmune Polyendocrinopathy Type 4
Hypergonadotropic hypogonadism, Xerostomia, Primary adrenal insufficiency, Thymoma, Anterior pitu... ORPHA:227990
Intellectual Developmental Disorder, X-Linked 98
Postnatal growth retardation, Central hypothyroidism OMIM:300912
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Hypothyroidism OMIM:618569
Pseudohypoparathyroidism Type 1B
Short stature, Decreased response to growth hormone stimulation test, Pseudohypoparathyroidism, E... ORPHA:94089
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Digeorge Syndrome
Parathyroid agenesis, Short stature, Decreased circulating parathyroid hormone level, Parathyroid... OMIM:188400
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Short stature, Decreased response to growth hormone stimulation test, Central diabetes insipidus,... ORPHA:293987
Pseudoxanthoma Elasticum
Hypothyroidism ORPHA:758
Duplication Of The Pituitary Gland
Abnormal hypothalamus morphology, Abnormal pituitary gland morphology, Short stature ORPHA:314621
Pseudohypoparathyroidism Type 1C
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:79444
Tuberous Sclerosis 2
Precocious puberty, Hypothyroidism, Adenoma sebaceum OMIM:613254
Stüve-Wiedemann Syndrome
Short stature, Hyperhidrosis, Hypohidrosis, Ectopic thyroid, Intrauterine growth retardation, Hyp... ORPHA:3206
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Thyroid hypoplasia, Congenital hypothyroidism ORPHA:521445
Syndromic Diarrhea
Intrauterine growth retardation, Hypoplasia of the thymus, Hypothyroidism, Short stature ORPHA:84064
Charge Syndrome
Hypoparathyroidism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:214800
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Phace Association
Lingual thyroid, Congenital hypothyroidism OMIM:606519
Aromatase Deficiency
Eunuchoid habitus, Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism... ORPHA:91
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypothyroidism, Hypospadias, Decreased response to growth hormone stimulation test, Short stature ORPHA:444077
Microphthalmia, Syndromic 6
Small scrotum, Female hypogonadism, Adrenal hypoplasia, Cryptorchidism, Anterior hypopituitarism,... OMIM:607932
1P36 Deletion Syndrome
Hypoplasia of penis, Hypospadias, Short stature, Cryptorchidism, Hypogonadism, Abnormality of fem... ORPHA:1606
Microphthalmia, Syndromic 2
Short stature, Hypospadias, Septate vagina, Cryptorchidism, Adrenal insufficiency, Hypothyroidism OMIM:300166
Steinert Myotonic Dystrophy
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... ORPHA:273
Aicardi-Goutières Syndrome
Hypothyroidism, Micropenis, Diabetes mellitus, Short stature ORPHA:51
White-Kernohan Syndrome
Hypothyroidism, Rectovaginal fistula OMIM:619426
Ciliary Dyskinesia, Primary, 19
Male infertility OMIM:614935
Beckwith-Wiedemann Syndrome
Adrenocortical cytomegaly, Cryptorchidism, Adrenocortical carcinoma, Abnormal pancreas morphology... ORPHA:116
Johanson-Blizzard Syndrome
Diabetes mellitus, Hypospadias, Short stature, Urethrovaginal fistula, Septate vagina, Cryptorchi... OMIM:243800
Ring Chromosome 13 Syndrome
Bifid scrotum, Hypoplasia of the gallbladder, Hypospadias, Growth delay, Primary hypothyroidism, ... ORPHA:96176
Interstitial Lung And Liver Disease
Hypothyroidism OMIM:615486
Peters Plus Syndrome
Hypospadias, Short stature, Rhizomelia, Postnatal growth retardation, Cryptorchidism, Congenital ... ORPHA:709
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Short stature, Cryptorchi... ORPHA:857
Semilobar Holoprosencephaly
Short stature, Decreased response to growth hormone stimulation test, Diabetes insipidus, Abnorma... ORPHA:220386
Alobar Holoprosencephaly
Short stature, Decreased response to growth hormone stimulation test, Diabetes insipidus, Abnorma... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Short stature, Decreased response to growth hormone stimulation test, Diabetes insipidus, Abnorma... ORPHA:93926
Lobar Holoprosencephaly
Short stature, Decreased response to growth hormone stimulation test, Diabetes insipidus, Abnorma... ORPHA:93924
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Neonatal insulin-dependent diabetes mellitus, Exocrine pancreatic insufficiency, Congenital hypot... ORPHA:2255
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Compensated hypothyroidism ORPHA:247691
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted