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Gene: Prlr MGI:97763

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
prolactin receptor
Synonyms:
Pr-1,  Prlr-rs1

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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 Prlr 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 Prlr by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hyperprolactinemia
Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea, Female infertility OMIM:615555
Familial Hyperprolactinemia
Female hypogonadism, Hemorrhagic ovarian cyst, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea ORPHA:397685
Multiple Fibroadenomas Of The Breast
Fibroadenoma of the breast OMIM:615554

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
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
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
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
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
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 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 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility OMIM:300604
Hyperprolactinemia
Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea, Female infertility OMIM:615555
Thyroid Dyshormonogenesis 3
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter OMIM:274700
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Isochromosomy Yp
Male infertility, Azoospermia, Ambiguous genitalia, Decreased testicular size ORPHA:98797
Thyroid Dyshormonogenesis 2A
Decreased circulating T4 concentration, Hypothyroidism, Thyroid defect in oxidation and organific... OMIM:274500
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Spermatogenic Failure 17
Male infertility OMIM:617214
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Thyroid Cancer, Nonmedullary, 1
Papillary thyroid carcinoma, Non-medullary thyroid carcinoma, Goiter OMIM:188550
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... ORPHA:3361
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 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
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 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
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 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Osteoporosis OMIM:233300
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Thyroid Cancer, Nonmedullary, 4
Ovarian neoplasm, Basal cell carcinoma, Papillary thyroid carcinoma, Prostate cancer, Goiter OMIM:616534
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Autism, Susceptibility To, 20
Impaired social interactions OMIM:618830
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Increased circulating free T3, Increased circulating free T4 concentration, Impaired sensitivity ... OMIM:188570
Hypothyroidism, Congenital, Nongoitrous, 1
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi... OMIM:275200
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma, Pleuropulmonary blastoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Nephr... OMIM:180295
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Isochromosomy Yq
Male infertility, Decreased testicular size, Gonadal tissue inappropriate for external genitalia ... ORPHA:98798
Ring Chromosome Y Syndrome
Male infertility, Bifid scrotum, Ambiguous genitalia, Streak ovary, Unilateral cryptorchidism, Hy... ORPHA:261529
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
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, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Euthyroid multinodular goiter, Papillary thyroid carcinoma OMIM:138800
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
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
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Hypergonadotropic Hypogonadism-Cataract Syndrome
Hypergonadotropic hypogonadism, Recurrent fractures, Increased circulating gonadotropin level, Ab... ORPHA:2410
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
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 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, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Ovarian Dysgenesis 8
Elevated circulating luteinizing hormone level, Osteoporosis, Decreased serum estradiol, Elevated... OMIM:618187
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Asherman Syndrome
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... ORPHA:137686
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Post-Traumatic Pituitary Deficiency
Osteopenia, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test,... ORPHA:95619
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Spermatogenic Failure, X-Linked, 6
Male infertility, Abnormality of male external genitalia, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Deiodinase, iodothyronine, type I
Euthyroid hyperthyroxinemia, Goiter OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Euthyroid hyperthyroxinemia, Goiter OMIM:188560
Hair Defect With Photosensitivity And Mental Retardation
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair OMIM:234030
Marie Unna Hereditary Hypotrichosis
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... ORPHA:444
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi... OMIM:612310
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Abnormality of hair texture, Growth delay, Joint hyperflexibility, Sparse or absent eyelashes, Pi... ORPHA:2891
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... OMIM:256450
Glycosylphosphatidylinositol Biosynthesis Defect 25
Sparse hair, Coarse hair, Short stature, Ankle flexion contracture OMIM:619985
Premature Ovarian Failure 17
Elevated circulating luteinizing hormone level, Decreased inhibin B level, Decreased serum estrad... OMIM:619146
Bjornstad Syndrome
Anhidrosis, Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular int... OMIM:262000
Woolly Hair, Autosomal Dominant
Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Coarse hai... OMIM:194300
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteopenia, Osteoporosis, Hypogonadotropic hypogonadism OMIM:615269
Witkop Syndrome
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair OMIM:189500
Hypotrichosis 4
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair OMIM:146550
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Elevated circulating parathyroid hormone level, Hypocalcemia, Hypophosphatemia OMIM:619073
Premature Ovarian Failure 20
Secondary amenorrhea, Elevated circulating luteinizing hormone level, Elevated circulating follic... OMIM:619938
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Pili Torti, Early-Onset
Dry hair, Brittle hair, Coarse hair, Hair shafts flattened at irregular intervals and twisted thr... OMIM:261900
Primary Erythromelalgia
Leukemia, Hypothermia ORPHA:90026
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism OMIM:228355
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Hypothyroidism, Congenital, Nongoitrous, 9
Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l... OMIM:301035
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin... OMIM:606762
Bazex-Dupré-Christol Syndrome
Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor... ORPHA:113
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Brittle hair, Short stature, Camptodactyly of finger, Coarse hair, Joint contracture of the 5th f... ORPHA:1883
Trichothiodystrophy 2, Photosensitive
Coarse hair, Tiger tail banding, Short stature OMIM:616390
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Hypothermia, Thyroid defect in oxidation and organification ... ORPHA:95716
Ectodermal Dysplasia-Syndactyly Syndrome 1
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... OMIM:613573
Bazex-Dupre-Christol Syndrome
Trichorrhexis nodosa, Hypohidrosis, Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Join... OMIM:301845
Hyperparathyroidism 4
Osteopenia, Primary hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia OMIM:617343
Familial Hyperprolactinemia
Female hypogonadism, Hemorrhagic ovarian cyst, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea ORPHA:397685
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Neoplasm of head and neck, Goiter, Breast carcinoma, Papillary renal cell carcinoma, Papillary th... ORPHA:97290
Hypothyroidism, Central, With Testicular Enlargement
Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Inappropriately normal t... OMIM:300888
Pendred Syndrome
Compensated hypothyroidism, Thyroid carcinoma, Goiter OMIM:274600
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Hypophosphatemic Rickets, Autosomal Recessive, 1
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... OMIM:241520
Functioning Gonadotropic Adenoma
Osteopenia, Macroorchidism, postpubertal, Decreased response to growth hormone stimulation test, ... ORPHA:91348
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Recurrent ... ORPHA:2235
Spermatogenic Failure 14
Abnormal circulating testosterone concentration, Abnormal circulating luteinizing hormone concent... OMIM:615842
Spermatogenic Failure, X-Linked, 4
Abnormal prolactin level, Decreased serum testosterone concentration, Elevated circulating follic... OMIM:301077
Uncombable Hair Syndrome 2
Uncombable hair, Pili canaliculi OMIM:617251
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ... OMIM:614324
Maffucci Syndrome
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... ORPHA:163634
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... OMIM:619949
Hypothyroidism, Congenital, Nongoitrous, 5
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... OMIM:225250
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Decreased circulating parathyroid hormone... OMIM:618883
Genetic Transient Congenital Hypothyroidism
Abnormal radioactive iodine uptake test result, Hypothermia, Thyroid defect in oxidation and orga... ORPHA:226316
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... OMIM:620356
Familial Papillary Or Follicular Thyroid Carcinoma
Follicular thyroid carcinoma, Neoplasm of head and neck, Papillary renal cell carcinoma, Papillar... ORPHA:319487
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Hypercalcemia, Elevated circulating parathyroid hormone level, Hyperphosphatemia, Par... OMIM:617994
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... OMIM:262600
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Familial Isolated Hyperparathyroidism
Osteopenia, Hypercalcemia, Primary hyperparathyroidism, Elevated circulating parathyroid hormone ... ORPHA:99879
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipodystrophy, Decreased adiponectin ... ORPHA:435651
Idiopathic Congenital Hypothyroidism
Hypothermia, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactiv... ORPHA:95717
Hypothyroidism Due To Tsh Receptor Mutations
Reduced radioactive iodine uptake, Hypothermia, Elevated circulating thyroid-stimulating hormone ... ORPHA:90673
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Premature Ovarian Failure 14
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:618014
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteopenia, Osteoporosis, Delayed puberty OMIM:615271
Hall-Riggs Syndrome
Slow-growing hair, Thick hair, Short stature, Joint stiffness, Coarse hair, Failure to thrive ORPHA:2107
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
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
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased circulating free T4 concentration, Diabetes mellitus, Elevated circulating thyroid-stim... OMIM:274300
X-Linked Dominant Chondrodysplasia Punctata
Abnormally ossified vertebrae, Sparse eyelashes, Short stature, Abnormal hair pattern, Sparse eye... ORPHA:35173
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating free T4 conce... OMIM:613239
Amaurosis-Hypertrichosis Syndrome
Abnormal eyelash morphology, Synophrys, Coarse hair, Thick eyebrow ORPHA:1021
Ovarian Dysgenesis 7
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:618117
Spermatogenic Failure 38
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... OMIM:618433
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Insulin-resista... ORPHA:79085
Hypophosphatemic Rickets And Hyperparathyroidism
Hyperparathyroidism, Hypercalcemia, Parathyroid hyperplasia, Rickets, Elevated circulating parath... OMIM:612089
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Thymic Neuroendocrine Tumor
Osteopenia, Pituitary null cell adenoma, Pancreatic islet cell adenoma, Hypercalcemia, Neoplasm o... ORPHA:97289
Blepharochalasis And Double Lip
Goiter OMIM:109900
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hyperphos... OMIM:203330
Premature Ovarian Failure 16
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level OMIM:618723
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated circulating parathyroi... OMIM:600785
Spermatogenic Failure 28
Decreased testicular size, Decreased serum testosterone concentration, Elevated circulating folli... OMIM:618086
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa OMIM:616760
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Hypothermia, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyro... ORPHA:226313
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Osteoporosis, Gout, Increased LDL cholesterol concentration, Type II diabet... OMIM:610947
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Acrokeratoderma, Hereditary Papulotranslucent
Fine hair OMIM:101840
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Alopecia, Brittle hair, Short stature, Coarse hair, Nail dystrophy, Intrauterine growth retardation ORPHA:75389
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Pseudopseudohypoparathyroidism
Abnormality of the endocrine system, Elevated circulating parathyroid hormone level, Hyperphospha... ORPHA:79445
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating osteocalcin level, Osteomalacia, Decreased circulating parathyroid hormone ... ORPHA:157215
Mucopolysaccharidosis, Type Iiib
Joint stiffness, Synophrys, Coarse hair, Dense calvaria, Hirsutism OMIM:252920
Ovarian Dysgenesis 4
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level OMIM:616185
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus OMIM:612227
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hyperparathyroidism, Bone cyst, Hypercalcemia ORPHA:2668
Hypophosphatemic Bone Disease
Rickets, Osteomalacia, Hypophosphatemia OMIM:146350
Estrogen Resistance Syndrome
Osteopenia, Enlarged polycystic ovaries, Increased circulating gonadotropin level, Delayed epiphy... ORPHA:785
Spinocerebellar Ataxia-Dysmorphism Syndrome
Joint hyperflexibility, Coarse hair, Short stature, Reduced bone mineral density ORPHA:1185
Ovarian Dysgenesis 9
Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Decreased serum estradio... OMIM:619665
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipodystrophy, Decreased adiponectin ... ORPHA:435660
X-Linked Intellectual Disability, Van Esch Type
Decreased serum testosterone concentration, Hypergonadotropic hypogonadism, Cryptorchidism, Incre... ORPHA:163976
Cowden Syndrome 7
Breast carcinoma, Trichilemmoma, Papillary thyroid carcinoma, Papilloma, Hemangioma, Ductal carci... OMIM:616858
Mucopolysaccharidosis, Type Iiia
Joint stiffness, Synophrys, Coarse hair, Dense calvaria, Hirsutism OMIM:252900
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia, Eleva... OMIM:620103
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Increas... OMIM:275000
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Goiter OMIM:600791
Ectodermal Dysplasia 4, Hair/Nail Type
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... OMIM:602032
Perrault Syndrome 1
Increased circulating gonadotropin level, Osteoporosis OMIM:233400
Chondrodysplasia Punctata, Autosomal Dominant
Hip contracture, Moderate postnatal growth retardation, Knee flexion contracture, Epiphyseal stip... OMIM:118650
Ovarian Dysgenesis 5
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:617690
Premature Ovarian Failure 15
Decreased cirrculating antimullerian hormone circulation, Elevated circulating follicle stimulati... OMIM:618096
Cutis Laxa, Autosomal Recessive, Type Iia
Brittle hair, Abnormality of hair texture, Coarse hair, Intrauterine growth retardation, Failure ... OMIM:219200
Ane Syndrome
Decreased serum insulin-like growth factor 1, Multiple joint contractures, Hypogonadotropic hypog... ORPHA:157954
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Ovarian Dysgenesis 10
Streak ovary, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Decreased ... OMIM:619834
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Medullary Thyroid Carcinoma
Neoplasm of the skeletal system, Primary hyperparathyroidism, Neoplasm of the lung, Pheochromocyt... ORPHA:1332
Mucopolysaccharidosis, Type Iiic
Joint stiffness, Synophrys, Coarse hair, Dense calvaria, Hirsutism, Hypertrichosis OMIM:252930
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Craniosyno... OMIM:614732
Precocious Puberty, Central, 1
Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti... OMIM:176400
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Rickets, Osteomalacia, Hypophosphatemia OMIM:193100
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteopenia, Hypogonadism, Osteoporosis, Delayed puberty OMIM:615270
Uncombable Hair Syndrome 3
Uncombable hair, Curly hair, Brittle hair, Pili canaliculi OMIM:617252
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Diabetic ketoac... OMIM:615238
Monilethrix
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:158000
Pili Torti
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... ORPHA:2889
Hypothyroidism, Congenital, Nongoitrous, 2
Hypothermia, Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Co... OMIM:218700
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multinodular goiter ORPHA:2091
Adenohypophysitis
Hyponatremia, Decreased circulating cortisol level, Reduced circulating prolactin concentration, ... ORPHA:95512
Panhypophysitis
Hyponatremia, Decreased circulating cortisol level, Reduced circulating prolactin concentration, ... ORPHA:95513
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone con... ORPHA:99832
Premature Ovarian Failure 8
Streak ovary, Elevated circulating luteinizing hormone level, Ovarian neoplasm, Decreased serum e... OMIM:615723
Leptin Deficiency Or Dysfunction
Hypogonadism, Decreased testicular size, Decreased serum leptin, Obesity OMIM:614962
Fanconi Renotubular Syndrome 2
Osteopenia, Recurrent fractures, Osteomalacia, Rickets, Elevated circulating parathyroid hormone ... OMIM:613388
Familial Supernumerary Nipples
Supernumerary nipple ORPHA:2456
Osteoporosis
Osteoporosis OMIM:166710
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Premature Ovarian Failure 1
Increased circulating gonadotropin level OMIM:311360
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Riboflavin Deficiency
Hypothermia OMIM:615026
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Absence of pubertal development, Vanishing testis... OMIM:273250
Familial Multinodular Goiter
Hyperthyroidism, Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Multinodular... ORPHA:276399
Mccune-Albright Syndrome
Craniofacial hyperostosis, Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth horm... OMIM:174800
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Osteopenia, Hypogonadism, Osteoporosis, Absence of pubertal development OMIM:615267
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Postnatal growth... OMIM:612394
Thyroid Dyshormonogenesis 1
Hypothyroidism, Goiter OMIM:274400
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Decreased circula... ORPHA:95715
X-Linked Intellectual Disability, Cilliers Type
Decreased serum testosterone concentration, Hypergonadotropic hypogonadism, Cryptorchidism, Incre... ORPHA:163971
46,Xx Gonadal Dysgenesis
Osteopenia, Streak ovary, Increased circulating gonadotropin level, Reduced bone mineral density,... ORPHA:243
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Thyroid Lymphoma
Hyperthyroidism, Lymphoma, Hypothyroidism, Hashimoto thyroiditis, Goiter ORPHA:97285
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
Premature Ovarian Failure 2A
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:300511
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Fragile nails, Joint hypermobility, Fine hair ORPHA:500166
Fetal Hydantoin Syndrome
Short stature, Low posterior hairline, Coarse hair, Intrauterine growth retardation, Hypoplastic ... ORPHA:1912
Premature Ovarian Failure 5
Streak ovary, Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea, Hypoplas... OMIM:611548
Ciliary Dyskinesia, Primary, 37
Female infertility, Goiter OMIM:617577
Intellectual Developmental Disorder, Autosomal Dominant 34
Curly hair, Synophrys, Coarse hair OMIM:616351
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter OMIM:617175
Non-Acquired Panhypopituitarism
Osteopenia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypog... ORPHA:90695
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Increased circulating gonadotropin level, Decreased testicular size ORPHA:399805
Pseudohypoparathyroidism, Type Ic
Elevated circulating thyroid-stimulating hormone concentration, Osteoporosis, Pseudohypoparathyro... OMIM:612462
Premature Ovarian Failure 3
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea OMIM:608996
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... ORPHA:1916
Macrocephaly/Autism Syndrome
Joint laxity, Coarse hair, Obesity, Large for gestational age OMIM:605309
Mody
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... ORPHA:552
Hawkinsinuria
Sparse hair, Failure to thrive, Fine hair ORPHA:2118
Schimke Immunoosseous Dysplasia
Osteopenia, Small for gestational age, Disproportionate short-trunk short stature, Fine hair, Gro... OMIM:242900
Gorlin-Chaudhry-Moss Syndrome
Short stature, Low anterior hairline, Coarse hair, Coronal craniosynostosis, Generalized hirsutism ORPHA:2095
Premature Ovarian Failure 18
Decreased cirrculating antimullerian hormone circulation, Hypoplasia of the ovary, Elevated circu... OMIM:619203
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypothermia OMIM:610006
Angioma Serpiginosum, X-Linked
Sparse hair, Nail dystrophy, Fine hair OMIM:300652
Hyperthyroidism, Nonautoimmune
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating free T3, Thyr... OMIM:609152
Monilethrix
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... ORPHA:573
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Sparse scalp hair, Alopecia, Short stature, Sparse eyebrow, Fine hair, Hypohidrosis, Dystrophic f... ORPHA:1882
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Hypohidrosis, Abno... ORPHA:248
Hjv Or Hamp-Related Hemochromatosis
Diabetes mellitus, Increased circulating ferritin concentration, Elevated transferrin saturation,... ORPHA:79230
Hypogonadism-Cataract Syndrome
Male hypogonadism, Hypogonadism, Elevated circulating follicle stimulating hormone level OMIM:240950
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... OMIM:606719
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility, Reduced circulating prolactin concentration OMIM:264110
Hypocalcemic Vitamin D-Resistant Rickets
Hyperparathyroidism, Recurrent fractures, Osteomalacia, Bone cyst, Osteolysis, Hypocalcemia, Hypo... ORPHA:93160
Hypoparathyroidism, Familial Isolated, 1
Hypoparathyroidism, Decreased circulating parathyroid hormone level, Hyperphosphatemia, Hypocalce... OMIM:146200
Adamantinoma
Pathologic fracture, Hypercalcemia ORPHA:55881
Renal Tubular Acidosis, Distal, 1
Osteomalacia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia, Pathologi... OMIM:179800
Osteoporosis, Juvenile
Osteoporosis OMIM:259750
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Developmental And Epileptic Encephalopathy 78
Hypothermia OMIM:618557
Chops Syndrome
Curly hair, Short stature, Thick hair, Synophrys, Obesity, Coarse hair, Long eyelashes, Tracheoma... OMIM:616368
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hyperphos... OMIM:603233
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland morphology, Gra... ORPHA:64744
Autosomal Recessive Kenny-Caffey Syndrome
Decreased skull ossification, Cortical thickening of long bone diaphyses, Hypocalcemia, Hypocalce... ORPHA:93324
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Macroorchidism, Hypothermia, Pituitary hypothyroidis... ORPHA:90674
Hypotrichosis 7
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... OMIM:604379
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Short stature, Thick hair, Postnatal growth retardation, Generalized joint laxity, Coarse hair, S... ORPHA:357074
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim... OMIM:617565
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Anterior pituitary hypoplasia, Reduced circulating p... OMIM:613038
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Hypohidrosis, Sparse... OMIM:129490
Tropical Pancreatitis
Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d... ORPHA:103918
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Reduced bone mineral density ORPHA:172
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Fasting hypoglycemia, Hyper... ORPHA:2298
Premature Ovarian Failure 21
Decreased serum estradiol, Streak ovary, Precocious puberty in females, Elevated circulating foll... OMIM:620311
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia, Obesity, Increased serum leptin OMIM:617885
Crandall Syndrome
Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:202
Axial Osteomalacia
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration OMIM:109130
Pituicytoma
Hypopituitarism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ... ORPHA:251623
Trichothiodystrophy 6, Nonphotosensitive
Brittle hair, Slow-growing hair, Small for gestational age, Short stature, Coronal craniosynostos... OMIM:616943
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Female infertility OMIM:619518
Pancreatic Agenesis 2
Diabetes mellitus, Small for gestational age, Pancreatic aplasia, Pancreatic hypoplasia, Exocrine... OMIM:615935
Perrault Syndrome 4
Decreased serum estradiol, Increased circulating gonadotropin level, Hypoplasia of the ovary, Ost... OMIM:615300
Pendred Syndrome
Hypothyroidism, Hyperparathyroidism, Thyroid carcinoma, Goiter ORPHA:705
Spontaneous Periodic Hypothermia
Hypothermia ORPHA:29822
Intermediate Osteopetrosis
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Increased sus... ORPHA:210110
Incontinentia Pigmenti
Ridged nail, Alopecia, Short stature, Supernumerary nipple, Nail pits, Fine hair, Coarse hair, Br... OMIM:308300
Glutaric Aciduria Iii
Hyperthyroidism, Goiter OMIM:231690
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Woolly hair OMIM:610476
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Osteopenia, Sparse scalp hair, Recurrent fractures, Postnatal growth retardation, Fine hair, Join... ORPHA:2324
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Cryptorchidism, Hypothermia ORPHA:168593
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Recurrent fractures, Decreased circulating parathyroid hormone level, Abnormal circulating calciu... OMIM:241530
Craniolenticulosutural Dysplasia
Brittle hair, Short stature, Joint hyperflexibility, Coarse hair, Sparse hair, Decreased skull os... ORPHA:50814
Insulin-Like Growth Factor I Deficiency
Osteopenia, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone con... OMIM:608747
Anaplastic Thyroid Carcinoma
Neoplasm of the skeletal system, Neoplasm of the lung, Malignant neoplasm of the central nervous ... ORPHA:142
Pseudohypoparathyroidism Type 1C
Calcinosis, Increased bone mineral density, Hypergonadotropic hypogonadism, Decreased response to... ORPHA:79444
Bangstad Syndrome
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Goiter OMIM:210740
Pseudohypoparathyroidism Type 1B
Calcinosis, Increased bone mineral density, Decreased response to growth hormone stimulation test... ORPHA:94089
Hypophosphatemic Rickets, X-Linked Dominant
Osteomalacia, Abnormal circulating calcium concentration, Osteoarthritis, Rickets, Elevated circu... OMIM:307800
Pituitary Carcinoma
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... ORPHA:300385
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated c... OMIM:264700
Ascher Syndrome
Hypothyroidism, Goiter ORPHA:1253
Pancreatic Agenesis 1
Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Exocrine pancreatic insufficienc... OMIM:260370
Partial Androgen Insensitivity Syndrome
Male infertility, Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Elevated ... ORPHA:90797
Renal Tubular Acidosis Iii
Hypokalemia, Rickets, Osteomalacia OMIM:267200
Multiple Sulfatase Deficiency
Coarse hair, Short stature, Thick eyebrow, Joint stiffness ORPHA:585
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... OMIM:110100
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ... ORPHA:90793
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Sparse hair, Woolly hair OMIM:278200
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Decreased testicu... OMIM:229070
Hypocalcemic Vitamin D-Dependent Rickets
Osteomalacia, Delayed epiphyseal ossification, Rickets, Increased susceptibility to fractures, Sp... ORPHA:289157
Hypophosphatasia, Adult
Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra... OMIM:146300
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Rickets, Osteomalacia, Hypophosphatemia ORPHA:89937
Trisomy 20P
Camptodactyly of finger, Highly arched eyebrow, Thick hair, Low anterior hairline, Reduced bone m... ORPHA:261318
Pituitary Adenoma 1, Multiple Types
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... OMIM:102200
Thyrocerebroretinal Syndrome
Goiter OMIM:274240
Clouston Syndrome
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Short stature, Spa... OMIM:129500
Coenzyme Q10 Deficiency, Primary, 5
Hypothermia OMIM:614654
Pseudohypoparathyroidism Type 2
Calcinosis, Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, Hyperphosph... ORPHA:94090
Hypotrichosis 12
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... OMIM:615885
Hypercholanemia, Familial 1
Rickets, Increased serum bile acid concentration OMIM:607748
Naxos Disease
Sparse scalp hair, Curly hair, Abnormality of hair texture, Hyperhidrosis, Woolly hair ORPHA:34217
Mucopolysaccharidosis, Type Vii
Thick eyebrow, Severe short stature, Short stature, Joint stiffness, Postnatal growth retardation... OMIM:253220
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia, Rickets OMIM:619232
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Curly hair, Slow-growing hair, Short stature, Craniosynostosis, Highly arched eyebrow, Low poster... OMIM:617506
Acrofacial Dysostosis, Catania Type
Intrauterine growth retardation, Coarse hair, Short stature, Abnormal hair pattern ORPHA:1786
Cowden Syndrome 6
Hyperthyroidism, Goiter, Fibroadenoma of the breast, Thyroiditis, Breast carcinoma, Hamartomatous... OMIM:615109
Premature Ovarian Failure 9
Hypoplasia of the ovary, Elevated circulating follicle stimulating hormone level, Elevated circul... OMIM:615724
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Elevated circulating fol... OMIM:612885
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Cowden Syndrome 1
Hyperthyroidism, Goiter, Fibroadenoma of the breast, Thyroiditis, Breast carcinoma, Carcinoma, Ha... OMIM:158350
Familial Gestational Hyperthyroidism
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... ORPHA:99819
Cerebrofaciothoracic Dysplasia
Short stature, Abnormal hair pattern, Synophrys, Low posterior hairline, Coarse hair, Thick eyebrow ORPHA:1394
Mucopolysaccharidosis-Plus Syndrome
Synophrys, Flexion contracture, Low anterior hairline, Low posterior hairline, Coarse hair, Long ... OMIM:617303
Premature Ovarian Failure 11
Elevated circulating follicle stimulating hormone level OMIM:616946
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... OMIM:610755
Diamond-Blackfan Anemia 21
Short stature, Synophrys, Widow's peak, Obesity, Coarse hair, Horizontal eyebrow OMIM:620072
Palmoplantar Keratoderma And Woolly Hair
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair OMIM:616099
Familial Adenomatous Polyposis
Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Papillary thyroid carcinoma, Ad... ORPHA:733
Trichohepatoneurodevelopmental Syndrome
Joint laxity, Curly hair, Synophrys, Coarse hair, Distal arthrogryposis, Long eyelashes, Hypoplas... OMIM:618268
Pituitary Apoplexy
Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... ORPHA:95613
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypothermia OMIM:616501
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hyperthyroidism, Goiter OMIM:188580
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Mccune-Albright Syndrome
Aneurysmal bone cyst, Hyperthyroidism, Osteomalacia, Precocious puberty, Ovarian cyst, Increased ... ORPHA:562
Hypodontia-Dysplasia Of Nails Syndrome
Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Thin toenail, Ridged fingernail,... ORPHA:2228
Cowden Syndrome 5
Hyperthyroidism, Goiter, Thyroiditis, Breast carcinoma, Hamartomatous polyposis, Ovarian cyst, Hy... OMIM:615108
Fibrous Dysplasia Of Bone
Thyroid carcinoma, Patchy reduction of bone mineral density, Cortical irregularity, Hyperthyroidi... ORPHA:249
Thyrocerebrorenal Syndrome
Euthyroid goiter ORPHA:3327
Cardiofaciocutaneous Syndrome 3
Curly hair, Short stature, Hyperhidrosis, Reduced bone mineral density, Failure to thrive OMIM:615279
Trichohepatoenteric Syndrome 2
Brittle hair, Small for gestational age, Uncombable hair, Sparse hair, Woolly hair, Failure to th... OMIM:614602
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Small for gestational age, Short stature, Postnatal growth retardation, Hyperhidrosis, Fine hair,... ORPHA:231137
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... ORPHA:99429
Hajdu-Cheney Syndrome
Osteopenia, Failure to thrive, Abnormal fingernail morphology, Recurrent fractures, Short stature... ORPHA:955
Orthostatic Hypotension 1
Hypomagnesemia, Increased blood urea nitrogen, Joint hypermobility, Reduced circulating prolactin... OMIM:223360
Trichodental Dysplasia
Sparse hair, Brittle hair, Slow-growing hair, Fine hair OMIM:601453
Progeroid Syndrome, Petty Type
Failure to thrive, Brittle hair, Short stature, Abnormal hair morphology, Abnormality of the nail... ORPHA:2963
Mucopolysaccharidosis, Type Iiid
Thick eyebrow, Short stature, Joint stiffness, Achilles tendon contracture, Synophrys, Elbow flex... OMIM:252940
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... ORPHA:226307
Pseudohypoparathyroidism Type 1A
Calcinosis, Increased bone mineral density, Hypergonadotropic hypogonadism, Decreased response to... ORPHA:79443
Blue Diaper Syndrome
Decreased circulating T4 concentration, Elevated circulating thyroid-stimulating hormone concentr... ORPHA:94086
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Cardiac myxoma, Pituitary adenoma, Palatine my... OMIM:160980
Vitamin D-Dependent Rickets, Type 2A
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated c... OMIM:277440
Lateral Meningocele Syndrome
Vertebral fusion, Short stature, Sclerosis of skull base, Coarse hair, Joint hypermobility OMIM:130720
Fowler Urethral Sphincter Dysfunction Syndrome
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea ORPHA:2795
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... ORPHA:2975
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Fever, Hypothyroidism, Hashimoto thyroiditis, Goiter ORPHA:83601
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ... OMIM:241410
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... ORPHA:424
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Reduced bone min... ORPHA:289548
Multiple Endocrine Neoplasia, Type Iia
Hyperparathyroidism, Thyroid C cell hyperplasia, Increased circulating cortisol level, Pheochromo... OMIM:171400
Autoimmune Hypoparathyroidism
Increased bone mineral density, Autoimmune hypoparathyroidism, Hyperphosphatemia, Hypocalcemia, H... ORPHA:36913
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
Chromosome Xq27.3-Q28 Duplication Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Hypogonadism, Decreased serum testoster... OMIM:300869
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Elevated circulating lute... ORPHA:168558
Craniolenticulosutural Dysplasia
Osteopenia, Joint laxity, Brittle hair, Short stature, Coarse hair, Sparse hair OMIM:607812
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... ORPHA:79414
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone l... OMIM:614129
Idiopathic Hypercalciuria
Osteopenia, Abnormal circulating calcium concentration, Osteoporosis ORPHA:2197
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenital hypoparathyroid... ORPHA:2239
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... ORPHA:251510
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... OMIM:614929
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration, Ankle flexion contracture OMIM:615883
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating dihydrotestosterone concentration, Decreased... OMIM:228300
Hypotrichosis 6
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti OMIM:607903
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcem... OMIM:600081
Carvajal Syndrome
Woolly hair ORPHA:65282
Hypotrichosis With Juvenile Macular Degeneration
Sparse scalp hair, Brittle hair, Short stature, Fine hair, Pili torti ORPHA:1573
Hypocalcemia, Autosomal Dominant 1
Decreased circulating parathyroid hormone level, Hypokalemia, Hyperphosphatemia, Increased circul... OMIM:601198
Mucoepithelial Dysplasia, Hereditary
Alopecia, Coarse hair, Nail dystrophy, Nail dysplasia, Sparse hair, Chronic monilial nail infection OMIM:158310
Hyperparathyroidism 1
Primary hyperparathyroidism, Hypercalcemia OMIM:145000
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Osteopenia, Cryptorchidism, Osteoporosis, Small pituitary gland, Decreased testicular size OMIM:614880
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Premature Ovarian Failure 7
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:612964
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Sparse eyebrow, Hypohidrosis, Hyperconv... ORPHA:1071
Timothy Syndrome
Hypothyroidism, Hypothermia OMIM:601005
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Hypothermia OMIM:608800
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia, Rickets OMIM:602722
Choroidal Atrophy-Alopecia Syndrome
Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye... ORPHA:1433
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Hypotrichosis Simplex Of The Scalp
Abnormal eyebrow morphology, Sparse scalp hair, Absent facial hair, Abnormality of the pubic hair... ORPHA:90368
Combined Pituitary Hormone Deficiencies, Genetic Forms
Osteopenia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypog... ORPHA:95494
Cystinosis
Nephrogenic diabetes insipidus, Rickets, Hypophosphatemia, Hypokalemia, Delayed puberty, Type I d... ORPHA:213
Ichthyosis, Congenital, Autosomal Recessive 11
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Hypohidrosis, Sparse... OMIM:602400
Periodic Fever, Menstrual Cycle-Dependent
Fever, Increased circulating cortisol level OMIM:614674
Androgen Insensitivity Syndrome
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:300068
Sheehan Syndrome
Hyponatremia, Decreased circulating cortisol level, Reduced circulating prolactin concentration, ... ORPHA:91355
Uncombable Hair Syndrome 1
Uncombable hair, Dry hair, Pili canaliculi OMIM:191480
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Gangliocytoma
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar... ORPHA:251937
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Reduced subcutaneous adipose tissue, ... ORPHA:280365
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Diabetes mellitus, Rickets, Hypophosphatemia OMIM:616026
Nut Midline Carcinoma
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... ORPHA:443167
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypothermia OMIM:245400
Galloway-Mowat Syndrome 9
Coarse hair OMIM:619603
49,Xyyyy Syndrome
Abnormality of the testis size, Generalized joint laxity, Increased circulating gonadotropin leve... ORPHA:99330
Parathyroid Carcinoma
Hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia OMIM:608266
Autosomal Recessive Faciodigitogenital Syndrome
Dry hair, Hypopigmentation of hair, Short stature, Widow's peak, Joint hyperflexibility, Coarse hair ORPHA:1974
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Alopecia, Brittle hair, Short stature, Intrauterine growth retardation, Failure to thrive ORPHA:50812
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Increased circulating gonadotropin level, Decreased testicular size ORPHA:399808
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypercalcemia, Osteomalacia, Primary hyperparathyroidism, Hypermagnesemia, Hypophosphatemia, Panc... OMIM:600740
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Hypothermia OMIM:614498
Ovarian Fibrothecoma
Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Gonadal calcification, Abnormalit... ORPHA:314478
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Enlarged polycyst... ORPHA:90796
Copper Deficiency, Familial Benign
Curly hair, Failure to thrive, Early balding OMIM:121270
Erythrokeratodermia Variabilis Et Progressiva 7
Woolly hair, Anhidrosis, Dystrophic toenail OMIM:619209
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Micronodular cirrhosi... ORPHA:139507
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Osteoporosis, Increas... OMIM:615954
Rhyns Syndrome
Osteopenia, Decreased response to growth hormone stimulation test, Osteoporosis, Pituitary hypoth... OMIM:602152
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Type I diabetes mellitus, Osteoporosis, Rickets OMIM:560000
Sabinas Brittle Hair Syndrome
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:211390
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... OMIM:300845
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Osteoporosis, Absence of pubert... OMIM:610628
Tyrosinemia Type 1
Rickets of the lower limbs ORPHA:882
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Abnormality of the thyroid gland, E... ORPHA:209905
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Sparse hair, Fine hair ORPHA:1174
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, Pituitary ... ORPHA:199299
Kenny-Caffey Syndrome, Type 1
Decreased skull ossification, Hypocalcemia, Hypomagnesemia, Congenital hypoparathyroidism, Calvar... OMIM:244460
Multiple Endocrine Neoplasia, Type I
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Hypercalcemia, ... OMIM:131100
Hypophosphatemic Rickets, X-Linked Recessive
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... OMIM:300554
Eec Syndrome
Slow-growing hair, Short stature, Sparse eyebrow, Nail pits, Fine hair, Hypohidrosis, Coarse hair... ORPHA:1896
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Weight loss, Fine hair, Generalized hirsutism ORPHA:2221
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteopenia, Hypophosphatemia, Osteoporosis, Increased susceptibility to fractures OMIM:612287
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Pigmented Nodular Adrenocortical Disease, Primary, 2
Osteopenia, Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secreti... OMIM:610475
Pigmented Nodular Adrenocortical Disease, Primary, 1
Osteopenia, Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concen... OMIM:610489
Mucopolysaccharidosis Type 3
Craniofacial hyperostosis, Thick hair, Joint stiffness, Synophrys, Flexion contracture, Reduced b... ORPHA:581
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Angiofibromas, Pituitary gonadotropic cell adenoma, Pancrea... ORPHA:652
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Osteopenia, Streak ovary, Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating g... ORPHA:2232
Pili Torti-Onychodysplasia Syndrome
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Nail dystrophy, Trichodysplasia, Congen... ORPHA:2890
Pseudohypoparathyroidism, Type Ia
Osteoporosis, Pseudohypoparathyroidism, Subcutaneous ossification, Elevated circulating parathyro... OMIM:103580
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Classic Galactosemia
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism... ORPHA:79239
Albers-Schönberg Osteopetrosis
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Osteoar... ORPHA:53
Familial Isolated Hypoparathyroidism
Hypoparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Hypo... ORPHA:2238
Pituitary Adenoma 2, Growth Hormone-Secreting
Pituitary adenoma, Elevated circulating growth hormone concentration OMIM:300943
46,Xy Sex Reversal 5
Elevated circulating follicle stimulating hormone level OMIM:613080
Tsh-Secreting Pituitary Adenoma
Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male h... ORPHA:91347
Fanconi Renotubular Syndrome 1
Hypokalemia, Rickets, Osteomalacia, Hypophosphatemia OMIM:134600
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... OMIM:225060
Trichothiodystrophy 4, Nonphotosensitive
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Concave nail, Growth delay, Nail dys... OMIM:234050
Occipital Horn Syndrome
Joint laxity, Capitate-hamate fusion, Osteoporosis, Growth delay, Coarse hair, Limited knee exten... OMIM:304150
49,Xxxyy Syndrome
Abnormality of the testis size, Increased circulating gonadotropin level, Primary gonadal insuffi... ORPHA:261534
Perlman Syndrome
Hepatomegaly, Inguinal hernia, Femoral hernia, Cryptorchidism, Hyperinsulinemia, Abnormal pancrea... ORPHA:2849
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Multiple pancreatic beta-cell adenomas, Decrea... ORPHA:79644
Meningococcal Meningitis
Fever, Hypothermia ORPHA:33475
Menkes Disease
Hypothermia OMIM:309400
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Cholelithiasis, Rickets, Conjugated hyperbilirubinemia OMIM:211600
Methemoglobinemia And Ambiguous Genitalia
Decreased circulating dehydroepiandrosterone-sulfate concentration, Elevated circulating luteiniz... OMIM:250790
Trichothiodystrophy 7, Nonphotosensitive
Tiger tail banding, Brittle hair OMIM:618546
Hypotrichosis 13
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology OMIM:615896
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Diabetes mellitus, Hypocalcemia, Hypertriglyceridemia OMIM:612526
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair OMIM:104100
Björnstad Syndrome
Alopecia, Brittle hair ORPHA:123
Fanconi Renotubular Syndrome 3
Elevated circulating creatinine concentration, Rickets OMIM:615605
46,Xy Sex Reversal 3
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:612965
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Lipodys... OMIM:608594
Hypercalcemia, Infantile, 1
Hypercalcemia, Decreased circulating parathyroid hormone level OMIM:143880
Craniofrontonasal Dysplasia
Camptodactyly of finger, Craniosynostosis, Abnormality of hair texture, Widow's peak, Low posteri... ORPHA:1520
Occipital Horn Syndrome
Osteopenia, Osteomalacia, Thick hair, Osteoporosis, Rickets, Osteolysis, Joint hyperflexibility, ... ORPHA:198
Fontaine Progeroid Syndrome
Sparse scalp hair, Absent nipple, Small for gestational age, Short stature, Craniosynostosis, Syn... OMIM:612289
Prolactinoma
Osteopenia, Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating growth hormo... ORPHA:2965
Cardiofaciocutaneous Syndrome 2
Sparse hair, Curly hair, Absent eyebrow, Fine hair OMIM:615278
Infantile Systemic Hyalinosis
Osteopenia, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joint stiffness, Osteopor... ORPHA:2176
Peeling Skin Syndrome 1
Brittle hair, Short stature, Onycholysis, Palmoplantar hyperhidrosis, Nail dystrophy OMIM:270300
Melnick-Needles Syndrome
Osteolytic defects of the phalanges of the hand, Coarse hair, Frontal hirsutism, Failure to thriv... OMIM:309350
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Fever, Abnormality of temperature regulation, Hypothermia OMIM:618493
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Increased circulating gonadotropin level, Testicular dysgenesis, Decreased serum es... ORPHA:168563
Infantile Myofibromatosis
Neoplasm of the pancreas, Hypercalcemia, Bone cyst, Limitation of joint mobility, Osteolysis ORPHA:2591
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... OMIM:615363
Pancreatitis, Hereditary
Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Exocrine pancre... OMIM:167800
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia, Rickets OMIM:611590
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Elevated circulating growt... ORPHA:300373
Pediatric-Onset Graves Disease
Puberty and gonadal disorders, Increased circulating free T3, Thyrotoxicosis with diffuse goiter,... ORPHA:525731
Acth-Independent Macronodular Adrenal Hyperplasia
Osteopenia, Adrenal hyperplasia, Decreased circulating ACTH concentration, Osteoporosis, Increase... OMIM:219080
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteopenia, Hypophosphatemia, Osteoporosis, Increased susceptibility to fractures OMIM:612286
Aarskog-Scott Syndrome
Joint laxity, Hyperextensibility of the finger joints, Elevated circulating luteinizing hormone l... OMIM:305400
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Weaver Syndrome
Deep-set nails, Abnormal fingernail morphology, Camptodactyly of finger, Thin nail, Joint stiffne... ORPHA:3447
Pituitary Gigantism
Elevated circulating growth hormone concentration, Hyperhidrosis, Increased circulating insulin-l... ORPHA:99725
Noonan Syndrome
Abnormal hair quantity, Short stature, Low posterior hairline, Joint hyperflexibility, Radioulnar... ORPHA:648
Cowden Syndrome
Endometrial carcinoma, Follicular thyroid carcinoma, Enlarged polycystic ovaries, Abnormality of ... ORPHA:201
Orofaciodigital Syndrome Type 1
Alopecia, Brittle hair, Tarsal synostosis, Reduced bone mineral density, Coarse hair, Sparse hair ORPHA:2750
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Transient hypophosphatemia, Increased bone mineral density, Hyperphosphatemia... OMIM:127000
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... ORPHA:572333
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating luteinizing hormone level, Breast aplasia, Elevated circulating follicle sti... ORPHA:3044
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Hip contracture, Hypoparathyroidism, Hypercalcemia, Knee flexion contracture, Hypopho... OMIM:156400
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Hypothermia OMIM:618775
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hypercalcemia, Recurrent fractures, Primary hyperparathyroidism, Elevated circulating... OMIM:239200
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia, Fractures of the long bones, Osteolysis, Increased susceptibility to fractures, Sc... OMIM:602080
Tetragametic Chimerism
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:199310
Tonne-Kalscheuer Syndrome
Short stature, Concave nail, Shyness, Fine hair, Growth delay, Small nail OMIM:300978
Isolated Splenogonadal Fusion
Unilateral cryptorchidism, Elevated circulating alpha-fetoprotein concentration, Bilateral crypto... ORPHA:457083
Ectodermal Dysplasia 13, Hair/Tooth Type
Brittle hair, Sparse eyelashes, Low anterior hairline, Thin eyebrow OMIM:617392
Hyperparathyroidism 2 With Jaw Tumors
Pancreatic adenocarcinoma, Hyperparathyroidism, Hypercalcemia, Hurthle cell thyroid adenoma, Para... OMIM:145001
46,Xy Sex Reversal 1
Absence of secondary sex characteristics, Hypergonadotropic hypogonadism, Elevated circulating fo... OMIM:400044
Fanconi-Bickel Syndrome
Osteopenia, Diabetes mellitus, Hypertriglyceridemia, Rickets, Hypophosphatemia ORPHA:2088
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Acrogeria
Joint hyperflexibility, Short stature, Fine hair ORPHA:2500
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Lipodystrophy, Reduced int... OMIM:269700
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Hypophosphatasia
Hypercalcemia, Recurrent fractures, Craniosynostosis ORPHA:436
Congenital Enterovirus Infection
Fever, Hypothermia ORPHA:292
Fg Syndrome 3
Sparse hair, Joint contracture, Frontal upsweep of hair, Fine hair OMIM:300406
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... ORPHA:95699
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Postnatal growth retardation, Contracture of the distal interphalangeal joint of the fingers, Fus... ORPHA:83617
Chromosome Xq26.3 Duplication Syndrome
Elevated circulating growth hormone concentration, Pituitary adenoma, Hyperhidrosis, Increased ci... OMIM:300942
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Adrenocorti... ORPHA:231720
Dent Disease 1
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... OMIM:300009
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Tbck-Related Intellectual Disability Syndrome
Hyperthyroidism, Decreased response to growth hormone stimulation test, Hypothermia, Cryptorchidi... ORPHA:488632
Zollinger-Ellison Syndrome
Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ... ORPHA:913
Vipoma
Neoplasm of the pancreas, Diabetes mellitus, Follicular thyroid carcinoma, Elevated circulating g... ORPHA:97282
2P21 Microdeletion Syndrome
Hypogonadism, Hypocalcemia ORPHA:163693
Osteopetrosis, Autosomal Recessive 1
Increased bone mineral density, Osteomyelitis, Craniosynostosis, Osteopetrosis, Hypocalcemia, Pat... OMIM:259700
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Joint laxity, Small for gestational age, Proportionate short stature, Synophrys, Low anterior hai... ORPHA:391408
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility ORPHA:244
Refractory Celiac Disease
Hypomagnesemia, Osteoporosis, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Frasier Syndrome
Decreased serum estradiol, Increased circulating gonadotropin level, Streak ovary, Hypergonadotro... ORPHA:347
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Hypothermia ORPHA:230
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Pilomatrixoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Multiple enchondromatosis, Adenoc... OMIM:620189
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Ciliary Dyskinesia, Primary, 18
Male infertility, Immotile sperm OMIM:614874
Cardiofaciocutaneous Syndrome 4
Joint laxity, Absent eyebrow, Curly hair, Sparse eyelashes, Short stature, Hyperhidrosis, Sparse ... OMIM:615280
Acromesomelic Dysplasia 3
Hypergonadotropic hypogonadism, Tarsal synostosis, Elevated circulating luteinizing hormone level... OMIM:609441
Meningioma
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Re... ORPHA:2495
Combined Oxidative Phosphorylation Deficiency 37
Bile duct proliferation, Hypothermia OMIM:618329
Celiac Disease, Susceptibility To, 1
Osteoporosis, Thyroiditis, Rickets, Hypocalcemia, Delayed puberty, Type I diabetes mellitus OMIM:212750
Ppoma
Neoplasm of the pancreas, Hypercalcemia, Elevated circulating growth hormone concentration, Abnor... ORPHA:97278
Trichothiodystrophy 5, Nonphotosensitive
Brittle hair, Slow-growing hair, Short stature, Sparse eyebrow, Reduced hair sulfur content, Spar... OMIM:300953
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Insulin-dependent but ketosis-resistant diabetes, Pancreatic calcificat... OMIM:608189
2Q32Q33 Microdeletion Syndrome
Short stature, Fine hair, Growth delay, Joint hyperflexibility, Sparse hair ORPHA:251019
Mitchell-Riley Syndrome
Absent gallbladder, Diabetes mellitus, Biliary atresia, Cholestasis, Acholic stools, Hyperglycemi... OMIM:615710
Addison Disease
Hypoparathyroidism, Hyponatremia, Decreased circulating cortisol level, Primary testicular failur... ORPHA:85138
Leydig Cell Hypoplasia
Hypergonadotropic hypogonadism, Female hypogonadism, Cryptorchidism, Increased circulating gonado... ORPHA:755
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Small for gestational age, Short stature, Fine hair, Growth delay, Delayed puberty, Sparse hair, ... OMIM:616817
Trichothiodystrophy 1, Photosensitive
Brittle hair, Trichoschisis, Small for gestational age, Short stature, Flexion contracture, Fine ... OMIM:601675
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Curly hair, Short stature, Curly eyelashes, Multiple rows of eyelashes, Rhizo-meso-acromelic limb... ORPHA:163654
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Anhidrosis, Brittle hair, Absent nipple, Hypohidrosis, Sparse hair, Absent hair OMIM:614940
Hyperzincemia With Functional Zinc Depletion
Increased serum zinc, Osteoporosis OMIM:601979
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Short stature, Highly arched eyebrow, Hyperconvex finger... OMIM:303600
Vulto-Van Silfhout-De Vries Syndrome
Joint laxity, Widow's peak, Horizontal eyebrow, Fine hair OMIM:615828
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... OMIM:146510
Sanjad-Sakati Syndrome
Hypoparathyroidism, Patchy osteosclerosis, Cryptorchidism, Hyperphosphatemia, Hypocalcemia, Conge... ORPHA:2323
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hyperparathyroidism, Hypercalcemia OMIM:239199
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Osteomalacia, Joint stiffness, Osteoporosis, Rickets, Joint hyperflexibility ORPHA:1901
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Fever, Decreased response to growth hormone stimulation test, Hypothermia, Ganglioneuroblastoma, ... ORPHA:293987
Grfoma
Neoplasm of the pancreas, Hypercalcemia, Elevated circulating growth hormone concentration, Neopl... ORPHA:97261
19Q13.11 Microdeletion Syndrome
Supernumerary nipple, Cachexia, Fine hair, Growth delay, Sparse or absent eyelashes, Nail dysplas... ORPHA:217346
Trichorhinophalangeal Syndrome, Type I
Osteopenia, Ivory epiphyses of the distal phalanges of the hand, Slow-growing hair, Thin nail, Sh... OMIM:190350
Somatostatinoma
Neoplasm of the pancreas, Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormone c... ORPHA:97283
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste... ORPHA:289176
Ciliary Dyskinesia, Primary, 14
Male infertility, Reduced sperm motility, Immotile sperm OMIM:613807
Bile Acid Synthesis Defect, Congenital, 1
Conjugated hyperbilirubinemia, Rickets, Hypocholesterolemia OMIM:607765
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Jaberi-Elahi Syndrome
Brittle hair, Sparse eyelashes, Joint stiffness, Sparse eyebrow, Fine hair, Sparse hair, Failure ... OMIM:617988
Matthew-Wood Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormal spl... ORPHA:2470
Carnitine-Acylcarnitine Translocase Deficiency
Hypothermia ORPHA:159
Odontotrichoungual-Digital-Palmar Syndrome
Nail dystrophy, Nail dysplasia, Abnormality of hair texture OMIM:601957
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone... ORPHA:85327
Alexander Disease
Precocious puberty, Diabetes mellitus, Hypothyroidism, Hypothermia ORPHA:58
Multiple Endocrine Neoplasia, Type Iib
Pheochromocytoma, Elevated circulating calcitonin concentration, Parathyroid hyperplasia, Nodular... OMIM:162300
48,Xxxy Syndrome
Hypoplasia of penis, Small scrotum, Cryptorchidism, Azoospermia, Hypogonadism, Infertility, Abnor... ORPHA:96263
Hypotonia-Cystinuria Syndrome
Hypocalcemia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test OMIM:606407
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia, Craniosynostosis, Increased susceptibility to fract... OMIM:241500
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Thyroid dysgenesis, Thyroid hypoplasia, Thyroid agenesis, Cryptorchidism, Ectopic thyroid, Hypoth... ORPHA:3047
Pachyonychia Congenita 2
Sparse scalp hair, Dry hair, Subungual hyperkeratosis, Sparse eyebrow, Nail dystrophy, Nail dyspl... OMIM:167210
Odontoonychodermal Dysplasia
Ridged nail, Sparse scalp hair, Dry hair, Short nail, Thin nail, Sparse eyebrow, Fine hair, Hyper... OMIM:257980
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Hypercalcemia, Testicular neoplasm, Primary hyperparathyroidism, Osteo... ORPHA:99880
Thyroid Ectopia
Abnormality of the thyroid gland, Hypothyroidism, Ectopic thyroid ORPHA:95712
Oncogenic Osteomalacia
Fibrous dysplasia of the bones, Increased susceptibility to fractures, Hypocalcemia, Hypophosphat... ORPHA:352540
Fanconi-Bickel Syndrome
Hypouricemia, Osteomalacia, Rickets, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Hyperbilir... OMIM:227810
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Brittle hair, Limitation of joint mobility, Osteoporosis, Failure to thrive, Generalized osteopor... OMIM:236200
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Noonan Syndrome 7
Curly hair, Short stature, Large for gestational age, Hyperhidrosis, Low posterior hairline, Grow... OMIM:613706
Rapp-Hodgkin Syndrome
Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Short stature, Sparse eyebrow, Fine ha... OMIM:129400
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypercalcemia, Osteomalacia, Hypermagnesemia, Pancreatitis, Hypocalcemic ... ORPHA:405
Giant Axonal Neuropathy
Woolly hair, Joint hypermobility, Pili canaliculi ORPHA:643
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypothermia ORPHA:26793
Trichothiodystrophy 8, Nonphotosensitive
Sparse hair, Woolly hair, Sparse eyebrow, Trichorrhexis nodosa OMIM:619691
Netherton Syndrome
Sparse scalp hair, Brittle hair, Brittle scalp hair, Sparse eyebrow, Failure to thrive OMIM:256500
Paternal Uniparental Disomy Of Chromosome 1
Anhidrosis, Hypercalcemia, Recurrent fractures, Craniosynostosis, Increased blood urea nitrogen, ... ORPHA:251004
Noonan Syndrome 5
Curly hair, Short stature, Large for gestational age, Sparse eyebrow, Fine hair, Small nail OMIM:611553
3-Hydroxy-3-Methylglutaric Aciduria
Fever, Hypothermia ORPHA:20
Amelo-Onycho-Hypohidrotic Syndrome
Abnormal fingernail morphology, Hypoplastic toenails, Hypohidrosis, Fine hair, Onycholysis ORPHA:1028
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Hypercalcemia, Testicular neoplasm, Primary hyperparathyroidism, Osteo... ORPHA:143
Ciliary Dyskinesia, Primary, 19
Male infertility OMIM:614935
Autosomal Dominant Kenny-Caffey Syndrome
Decreased skull ossification, Cortical thickening of long bone diaphyses, Hypocalcemic seizures, ... ORPHA:93325
Tricho-Retino-Dento-Digital Syndrome
Uncombable hair, Sparse hair ORPHA:1264
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Multinodular goiter, Squamous cell carcinoma OMIM:618373
Chand Syndrome
Curly hair, Nail dysplasia OMIM:214350
Seckel Syndrome 10
Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated ci... OMIM:617253
Trichothiodystrophy 3, Photosensitive
Brittle hair, Short stature, Intrauterine growth retardation, Tiger tail banding, Failure to thri... OMIM:616395
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Multiple Fibroadenomas Of The Breast
Fibroadenoma of the breast OMIM:615554
Myotonic Dystrophy 2
Type II diabetes mellitus, Hypogonadism, Elevated circulating follicle stimulating hormone level,... OMIM:602668
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Joint laxity, Intrauterine growth retardation, Inappropriate laughter, Fine hair ORPHA:363686
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypothermia OMIM:251880
Thyroid Hypoplasia
Hypothyroidism, Thyroid hypoplasia ORPHA:95720
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Short stature, Slow-growing hair, Abnormal hair morphology, Uncombable hair, Aplasia/Hypoplasia o... ORPHA:3082
Infantile Nephropathic Cystinosis
Abnormality of thyroid physiology, Rickets, Abnormal blood ion concentration, Hypokalemia, Hypoph... ORPHA:411629
Distal Duplication 6P
Abnormal hair quantity, Short stature, Abnormal eyelash morphology, Fine hair, Intrauterine growt... ORPHA:1745
Rett Syndrome
Failure to thrive, Cholecystitis, Increased serum leptin ORPHA:778
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dystrophy, Woolly hair, Failure to thrive OMIM:605676
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Noonan Syndrome 8
Curly hair, Failure to thrive, Short stature, Large for gestational age OMIM:615355
Hypocalciuric Hypercalcemia, Familial, Type I
Hyperparathyroidism, Hypercalcemia, Hypermagnesemia, Parathyroid adenoma, Pancreatitis OMIM:145980
Olmsted Syndrome 2
Sparse hair, Woolly hair, Alopecia universalis, Flexion contracture of digit OMIM:619208
Noonan Syndrome 6
Curly hair, Short stature, Long eyebrows, Low posterior hairline, Growth delay, Sparse hair OMIM:613224
Congenital Bile Acid Synthesis Defect Type 2
Conjugated hyperbilirubinemia, Rickets, Hyperbilirubinemia, Abnormal serum bile acid concentration ORPHA:79303
Costello Syndrome
Deep-set nails, Failure to thrive in infancy, Abnormal fingernail morphology, Short stature, Conc... ORPHA:3071
Carney Complex
Thyroid carcinoma, Papillary thyroid carcinoma, Neoplasm of the breast, Leydig cell neoplasia, Ov... ORPHA:1359
11Q22.2Q22.3 Microdeletion Syndrome
Abnormal social behavior ORPHA:444002
Duodenal Atresia
Abnormality of the pancreas, Annular pancreas ORPHA:1203
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Insulin-resistant diabetes mellitus, Elevated circulating growth hor... ORPHA:90301
Rodrigues Blindness
Sparse hair, Short stature, Fine hair OMIM:268320
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Osteopenia, Short stature, Postnatal growth retardation, Osteoporosis, Increased susceptibility t... OMIM:612199
Atypical Werner Syndrome
Decreased body weight, Diabetes mellitus, Failure to thrive, Lipoatrophy, Short stature, Abnormal... ORPHA:79474
Aromatic L-Amino Acid Decarboxylase Deficiency
Temperature instability, Intermittent hypothermia OMIM:608643
Netherton Syndrome
Sparse scalp hair, Sparse eyelashes, Short stature, Sparse eyebrow, Abnormal hair morphology, Fin... ORPHA:634
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Dent Disease
Renal hypophosphatemia, Recurrent fractures, Osteomalacia, Elevated circulating creatine kinase c... ORPHA:1652
Glucagonoma
Neoplasm of the pancreas, Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormone c... ORPHA:97280
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis, Osteopetrosis, H... OMIM:618476
Intellectual Disability, Buenos-Aires Type
Abnormal fingernail morphology, Short stature, Hyperconvex thumb nails, Fine hair, Reduced bone m... ORPHA:3079
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Woolly hair OMIM:611528
Leopard Syndrome 2
Curly hair, Short stature OMIM:611554
Dyskeratosis Congenita, Autosomal Dominant 3
Alopecia, Short stature, Osteoporosis, Fine hair, Premature graying of hair, Growth delay, Nail d... OMIM:613990
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rickets, Recurrent fractures OMIM:268315
Bartter Syndrome, Type 1, Antenatal
Osteopenia, Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Hypercalcemi... OMIM:601678
Koolen-De Vries Syndrome
Vertebral fusion, Hypopigmentation of hair, Short stature, Abnormality of hair texture, Joint hyp... ORPHA:96169
Brachycephaly, Trichomegaly, And Developmental Delay
Brittle hair, Short stature, Highly arched eyebrow, Synophrys, Long eyelashes, Thick eyebrow OMIM:617412
Multiple Endocrine Neoplasia Type 2
Multiple mucosal neuromas, Cervical neoplasm, Paraganglioma of head and neck, Neoplasm of the ske... ORPHA:653
Adult-Onset Autosomal Dominant Leukodystrophy
Temperature instability, Hypothermia ORPHA:99027
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Cryptorchidism, Elevated circulating thyroid-stimulating horm... OMIM:618183
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... ORPHA:64739
Pachydermoperiostosis
Osteomyelitis, Elevated circulating growth hormone concentration, Limitation of joint mobility, O... ORPHA:2796
Pancreas, Annular
Annular pancreas OMIM:167750
Annular Pancreas
Annular pancreas ORPHA:675
Oculoskeletodental Syndrome
Hypercalcemia, Cryptorchidism, Elbow flexion contracture, Hypocalcemia, Hypothyroidism OMIM:618440
Hsd10 Disease
Abnormal social behavior ORPHA:391417
Phace Association
Cavernous hemangioma of the face, Congenital hypothyroidism, Plaque-like facial hemangioma, Subgl... OMIM:606519
Sulfite Oxidase Deficiency, Isolated
Fine hair OMIM:272300
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Episodic hyperhidrosis, Hypercalcemia, Paraganglioma ORPHA:94080
Dahlberg-Borer-Newcomer Syndrome
Hypoparathyroidism, Hypothyroidism, Hypocalcemia, Hypohidrosis ORPHA:1563
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
46,Xx Sex Reversal 1
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:400045
Alstrom Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Diabetes i... OMIM:203800
Ectodermal Dysplasia-Blindness Syndrome
Abnormal fingernail morphology, Short stature, Hypohidrosis, Fine hair, Sparse hair ORPHA:1806
Martinez-Frias Syndrome
Hypoplasia of the gallbladder, Extrahepatic biliary duct atresia, Intrauterine growth retardation... OMIM:601346
Gracile Bone Dysplasia
Decreased skull ossification, Hypocalcemia OMIM:602361
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Joint laxity, Synophrys, Growth delay, Fine hair OMIM:619428
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Alopecia, Intrauterine growth retardation, Coronal craniosynostosis, Fine hair ORPHA:228390
Hereditary Mucoepithelial Dysplasia
Sparse hair, Alopecia, Fine hair ORPHA:1839
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypercalcemia, Primary hyperparathyroidism, Hypermagnesemia, Pancreatitis OMIM:145981
Leopard Syndrome 3
Growth delay, Curly hair, Short stature, Low posterior hairline OMIM:613707
Cutis Laxa, Autosomal Recessive, Type Iiib
Osteopenia, Flexion contracture, Osteoporosis, Elbow flexion contracture, Fine hair, Sparse hair,... OMIM:614438
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Brittle hair, Small for gestational age, Failure to thrive in infancy, Short stature, Flexion con... OMIM:618891
X-Linked Hypophosphatemia
Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rickets, Enthesitis, ... ORPHA:89936
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Curly hair, Increased bone mineral density, Thin bony cortex ORPHA:85184
Braddock-Carey Syndrome 1
Sparse hair, Curly hair, Growth delay, Camptodactyly OMIM:619980
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Neuroleptic Malignant Syndrome
Fever, Hypothermia ORPHA:94093
Ethylene Glycol Poisoning
Hypothermia ORPHA:31826
Neu-Laxova Syndrome
Osteopenia, Osteomalacia, Flexion contracture, Osteoporosis, Rickets, Hypogonadism, Arthrogryposi... ORPHA:2671
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Woolly hair, Fragile nails, Nail dystrophy, Leukonychia OMIM:615821
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Joint laxity, Curly hair, Failure to thrive, Short stature OMIM:300986
Noonan Syndrome 9
Sparse eyebrow, Curly hair, Short stature OMIM:616559
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Type I diabetes mellitus, Nodular goiter, Premature thelarche, Polycystic ovaries ORPHA:371428
Acute Adrenal Insufficiency
Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, Adrenal hypoplasia, Primary ad... ORPHA:95409
Mitochondrial Dna-Associated Leigh Syndrome
Fever, Hypothermia ORPHA:255210
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hypothermia ORPHA:17
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Dry hair, Brittle hair, Short stature, Growth delay, Nail dystrophy ORPHA:93947
Cartilage-Hair Hypoplasia
Joint laxity, Sparse facial hair, Sparse eyelashes, Absent pubertal growth spurt, Sparse eyebrow,... OMIM:250250
Wilson Disease
Hypoparathyroidism, Decreased circulating ceruloplasmin concentration, Hypouricemia, Osteomalacia... OMIM:277900
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Brittle hair, Flexion contracture, Growth delay, Progressive clavicular acroosteolysis,... OMIM:608612
Onychotrichodysplasia And Neutropenia
Curly hair, Curly eyelashes, Concave nail, Sparse pubic hair, Short eyelashes, Trichorrhexis nodo... OMIM:258360
Pancreatic Triacylglycerol Lipase Deficiency
Exocrine pancreatic insufficiency, Osteoporosis, Osteomalacia, Rickets ORPHA:309031
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hypothermia ORPHA:79282
Oculoskeletodental Syndrome
Hypercalcemia, Abnormal thalamus morphology, Hypocalcemia ORPHA:557003
Keppen-Lubinsky Syndrome
Lack of facial subcutaneous fat, Decreased serum leptin, Absence of subcutaneous fat, Flexion con... OMIM:614098
Autosomal Dominant Hypocalcemia
Hypomagnesemia, Hyperphosphatemia, Hypocalcemia, Reduced bone mineral density ORPHA:428
Trichothiodystrophy
Osteopenia, Sparse scalp hair, Increased bone mineral density, Multiple joint contractures, Britt... ORPHA:33364
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Brittle hair, Joint hypermobility, Joint stiffness, Postnatal growth retardation, Intrauterine gr... OMIM:619184
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Synophrys, Long eyelashes, Obesity, Fine hair OMIM:620250
S-Adenosylhomocysteine Hydrolase Deficiency
Growth delay, Failure to thrive, Abnormality of hair texture ORPHA:88618
Autosomal Dominant Progressive External Ophthalmoplegia
Diabetes mellitus, Hyperthyroidism, Hypothyroidism, Goiter ORPHA:254892
Menkes Disease
Hypothermia, Exostoses ORPHA:565
X-Linked Agammaglobulinemia
Arthritis, Osteomyelitis, Hypocalcemia ORPHA:47
Smith-Kingsmore Syndrome
Curly hair, Rhizomelia, Large for gestational age OMIM:616638
Primary Fanconi Renotubular Syndrome
Hypouricemia, Osteomalacia, Bicarbonaturia, Increased susceptibility to fractures, Hypophosphatem... ORPHA:3337
Adult Syndrome
Sparse scalp hair, Alopecia, Absent nipple, Nail pits, Fine hair, Hypoplastic nipples, Abnormalit... ORPHA:978
Koolen-De Vries Syndrome
Vertebral fusion, Fair hair, Small for gestational age, Short stature, Abnormality of hair textur... OMIM:610443
Noonan Syndrome 14
Curly hair, Short stature, Sparse eyebrow, Low posterior hairline, Hyperhidrosis, Sparse hair, Li... OMIM:619745
Frontonasal Dysplasia 2
Sparse eyelashes, Alopecia totalis, Craniosynostosis, Sparse eyebrow, Fine hair, Hypohidrosis, Sp... OMIM:613451
Nestor-Guillermo Progeria Syndrome
Lipoatrophy, Short stature, Decreased serum leptin, Flexion contracture, Growth delay, Failure to... OMIM:614008
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Pheochromocytoma--Islet Cell Tumor Syndrome
Pheochromocytoma, Hypercalcemia, Hyperhidrosis OMIM:171420
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Curly hair, Thick eyebrow, Short stature, Highly arched eyebrow, Low posterior hairline, Camptoda... OMIM:617360
Cystinosis, Nephropathic
Hyponatremia, Diabetes mellitus, Hypomagnesemia, Rickets, Reduced blood urea nitrogen, Hypohidros... OMIM:219800
Hallermann-Streiff Syndrome
Alopecia, Sparse eyelashes, Recurrent fractures, Proportionate short stature, Abnormality of hair... ORPHA:2108
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Sparse hair, Curly hair, Synophrys, Sparse eyebrow OMIM:620075
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Osteopenia, Hyponatremia, Calcinosis, Hypokalemia, Hypocalcemia OMIM:617913
Mucolipidosis Type Ii
Hip contracture, Dry hair, Short stature, Craniosynostosis, Limited wrist movement, Postnatal gro... ORPHA:576
Bronchial Neuroendocrine Tumor
Elevated circulating growth hormone concentration, Increased circulating ACTH level, Pulmonary ca... ORPHA:97287
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Woolly hair OMIM:607450
Osteopetrosis, Autosomal Recessive 5
Increased bone mineral density, Cranial hyperostosis, Decreased osteoclast count, Osteopetrosis, ... OMIM:259720
Myoectodermal Gonadal Dysgenesis Syndrome
Limited elbow extension, Elevated circulating follicle stimulating hormone level, Elevated circul... OMIM:618419
Cardiofaciocutaneous Syndrome 1
Osteopenia, Hyperextensibility of the finger joints, Absent eyebrow, Curly hair, Slow-growing hai... OMIM:115150
Cranioectodermal Dysplasia 3
Joint laxity, Short stature, Short nail, Sagittal craniosynostosis, Rhizomelia, Broad nail, Fine ... OMIM:614099
Ritscher-Schinzel Syndrome 4
Limited knee extension, Curly hair, Short stature, Joint hypermobility OMIM:619435
Testicular Agenesis
Vanishing testis, Increased circulating gonadotropin level, Decreased serum testosterone concentr... ORPHA:325124
Branchiootorenal Syndrome 1
Euthyroid goiter, Cholesteatoma OMIM:113650
Noonan Syndrome 4
Curly hair, Short stature, Large for gestational age, Sparse eyebrow, High anterior hairline OMIM:610733
Generalized Pustular Psoriasis
Hyponatremia, Elevated circulating C-reactive protein concentration, Arthritis, Hypoalbuminemia, ... ORPHA:247353
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Fine hair ORPHA:3236
Trichohepatoenteric Syndrome 1
Curly hair, Brittle hair, Small for gestational age, Short stature, Fine hair, Sparse hair, Wooll... OMIM:222470
Multiple Myeloma
Osteopenia, Hypercalcemia, Elevated circulating creatinine concentration, Hyperproteinemia, Patho... ORPHA:29073
Sarcoidosis
Fever, Hyperthyroidism, Diabetes insipidus, Hypothermia, Enlarged lacrimal glands, Enlargement of... ORPHA:797
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hyperthyroidism, Osteomyelitis, Abnormality of the endocrine system, Thyroiditis, Abnormal blood ... ORPHA:37042
Distal Renal Tubular Acidosis
Osteomalacia, Rickets, Increased susceptibility to fractures, Reduced bone mineral density, Hypok... ORPHA:18
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Absent eyebrow, Anhidrosis, Brittle hair, Absent nipple, Sparse eyelashes, Concave nail, Absent e... OMIM:305100
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Intrauterine growth retardation, Failure to thrive, Short stature, Abnormality of hair texture ORPHA:79351
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypothermia, Abnormality of the endocrine system, Cryptorchidism, Precocious puberty, Abnormality... ORPHA:438213
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Xerostomia, Hypocalcemia, Hypomagnesemia OMIM:175500
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Myelofibrosis, Curly hair, Joint laxity, Sparse scalp hair, Short stature, Large for gestational ... OMIM:607721
Rhabdoid Tumor
Hypercalcemia ORPHA:69077
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Highly arched eyebrow, Low anterior hairline, Hirsutism, Woolly hair, Broad eyebrow OMIM:619244
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Osteopenia, Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Precocious... ORPHA:369837
Hereditary Pheochromocytoma-Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypercalcemia, Episodic hyperhidro... ORPHA:29072
Cardiofaciocutaneous Syndrome
Brittle hair, Slow-growing hair, Failure to thrive in infancy, Short stature, Abnormal eyelash mo... ORPHA:1340
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Postnatal growth retardation, Short stature, Thick eyebrow, Fine hair OMIM:614800
Giant Axonal Neuropathy 1, Autosomal Recessive
Curly hair OMIM:256850
Pallister-Hall Syndrome
Decreased testicular size, Adrenal hypoplasia, Precocious puberty, Cryptorchidism, Adrenocorticot... ORPHA:672
Argininosuccinic Aciduria
Failure to thrive, Dry hair, Brittle hair, Trichorrhexis nodosa OMIM:207900
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Joint laxity, Short stature, Highly arched eyebrow, Postnatal growth retardation, Low posterior h... OMIM:613563
Genitopatellar Syndrome
Hip contracture, Sparse scalp hair, Short stature, Knee flexion contracture, Fine hair, Radioulna... ORPHA:85201
Trichodermodysplasia-Dental Alterations Syndrome
Sparse scalp hair, Brittle hair, Fine hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the... ORPHA:3353
Oculodentodigital Dysplasia, Autosomal Recessive
Sparse eyelashes, Short stature, Fine hair, Sparse hair, Failure to thrive OMIM:257850
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Curly hair, Large for gestational age ORPHA:457485
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Joint laxity, Rickets, Reduced bone mineral density, Bile duct proliferation, Hypocal... OMIM:613658
Ogden Syndrome
Postnatal growth retardation, Aplasia/Hypoplasia of the eyebrow, Fine hair ORPHA:276432
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior ORPHA:101039
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
2P15P16.1 Microdeletion Syndrome
Camptodactyly of finger, Supernumerary nipple, Sparse eyebrow, Fine hair, Growth delay, Long eyel... ORPHA:261349
Marburg Hemorrhagic Fever
Fever, Orchitis, Hypothermia ORPHA:99826
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp... ORPHA:85450
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hyperparathyroidism, Recurrent fractures, Osteomalacia, Joint stiffness, Hypoammone... ORPHA:534
Oculodentodigital Dysplasia
Curly hair, Brittle hair, Slow-growing hair, Camptodactyly of finger, Abnormal fingernail morphol... ORPHA:2710
Igg4-Related Dacryoadenitis And Sialadenitis
Fever, Enlarged lacrimal glands, Thyroiditis, Enlargement of parotid gland, Nodular goiter, Abnor... ORPHA:79078
Lysinuric Protein Intolerance
Short stature, Recurrent fractures, Osteoporosis, Fine hair, Truncal obesity, Sparse hair, Failur... OMIM:222700
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Osteopenia, Postnatal growth retardation, Generalized joint laxity, Fine hair, Increased suscepti... ORPHA:251028
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short stature, Fine hair, Nail dysplasia, Sparse hair, Aplasia/Hypoplasia of the eyebrow OMIM:614091
Cockayne Syndrome B
Anhidrosis, Dry hair, Severe short stature, Small for gestational age, Abnormal hair morphology, ... OMIM:133540
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypercalcemia, Episodic hyperhidro... ORPHA:276621
Hallermann-Streiff Syndrome
Sparse scalp hair, Sparse eyelashes, Small for gestational age, Proportionate short stature, Spar... OMIM:234100
Revesz Syndrome
Nail pits, Fine hair, Nail dystrophy, Sparse hair, Intrauterine growth retardation, Ridged finger... OMIM:268130
Craniofrontonasal Syndrome
Joint laxity, Curly hair, Ridged nail, Split nail, Short stature, Widow's peak, Low posterior hai... OMIM:304110
Ciliary Dyskinesia, Primary, 1
Male infertility OMIM:244400
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Disproportionate short stature, Fine hair, Joint hyperflexibility, Truncal obesity, Intrauterine ... ORPHA:2637
Turner Syndrome Due To Structural X Chromosome Anomalies
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, De... ORPHA:99413
Mosaic Monosomy X
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, De... ORPHA:99228
Monosomy X
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, De... ORPHA:99226
Turner Syndrome
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, De... ORPHA:881
Hereditary Sensory And Autonomic Neuropathy Type 4
Aplasia of the sweat glands, Recurrent fever, Hypothermia, Unexplained fevers ORPHA:642
Aceruloplasminemia
Diabetes mellitus, Abnormal pancreas morphology, Hepatic fibrosis, Cirrhosis, Elevated hepatic ir... ORPHA:48818
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Gitelman Syndrome
Neoplasm of the pancreas, Maternal diabetes, Hypomagnesemia, Hypermagnesemia, Gout, Hyperhidrosis... ORPHA:358
Stüve-Wiedemann Syndrome
Hypothyroidism, Ectopic thyroid, Recurrent fever ORPHA:3206
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia ORPHA:99845
Naxos Disease
Curly hair, Subungual hyperkeratosis, Sparse eyebrow, Onycholysis, Nail dystrophy, Woolly hair, S... OMIM:601214
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Abnormally ossified vertebrae, Osteomalacia, Cryptorchidism, Osteoporosis, Rickets, A... ORPHA:2636
Fg Syndrome Type 1
Hypospadias, Cryptorchidism, Small pituitary gland, Umbilical hernia, Abnormal social behavior ORPHA:93932
Colchicine Poisoning
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... ORPHA:31824
Cerebellar-Facial-Dental Syndrome
Infancy onset short-trunk short stature, Severe short stature, Foot joint contracture, Sparse eye... ORPHA:444072
Double Outlet Right Ventricle
Hypoparathyroidism, Hypocalcemia, Aplasia/Hypoplasia of the thymus ORPHA:3426
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemic tetany, Hyperaldosteronism, Hypocalcemia, Hypomagnesemia ORPHA:73224
Uremic Pruritus
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Fanconi Anemia, Complementation Group A
Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism OMIM:227650
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Lowe Oculocerebrorenal Syndrome
Hypercholesterolemia, Camptodactyly of finger, Osteomalacia, Elevated circulating creatine kinase... OMIM:309000
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... ORPHA:411634
Phace Syndrome
Visceral angiomatosis, Hypothyroidism, Capillary hemangioma, Ectopic thyroid ORPHA:42775
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
White hair, Fine hair, Reduced bone mineral density ORPHA:935
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Supernumerary nipple, Hypohidrosis, Aplastic/hypoplastic toenail, Fine hair, Aplasia/Hypoplasia o... ORPHA:1812
Mucolipidosis Ii Alpha/Beta
Osteopenia, Brittle hair, Craniosynostosis, Sparse eyebrow, Limitation of joint mobility, Growth ... OMIM:252500
Syndromic Diarrhea
Hypopigmentation of hair, Brittle hair, Small for gestational age, Short stature, Uncombable hair... ORPHA:84064
Bacterial Toxic-Shock Syndrome
Osteomyelitis, Elevated circulating creatine kinase concentration, Elevated circulating creatinin... ORPHA:36234
Autosomal Recessive Malignant Osteopetrosis
Recurrent fractures, Craniosynostosis, Reduced bone mineral density, Osteopetrosis, Hypocalcemia,... ORPHA:667
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Thyroid lymphangiectasia, Cryptorchidism, Pancreatic lymphangiectasis, Hypocalcemia, Hypoproteinemia OMIM:235255
Nicolaides-Baraitser Syndrome
Absent eyebrow, Dry hair, Sparse scalp hair, Failure to thrive, Short stature, Low anterior hairl... OMIM:601358
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Thyroid hypoplasia, Congenital hypothyroidism ORPHA:521445
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Sparse eyebrow, Brittle hair OMIM:618810
Marshall-Smith Syndrome
Brittle hair, Decreased hip abduction, Large sternal ossification centers, Recurrent fractures, C... OMIM:602535
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Hypocalcemia ORPHA:746
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Woolly hair OMIM:610193
Dubowitz Syndrome
Sparse scalp hair, Abnormal fingernail morphology, Short stature, Craniosynostosis, Hypoplastic t... ORPHA:235
Cartilage-Hair Hypoplasia
Abnormally ossified vertebrae, Joint hyperflexibility, Hypocalcemia, Abnormal bone ossification, ... ORPHA:175
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Diabetes mellitus, Parathyroid hypoplasia, Hypocalcemia, Hypocalcemic seizures ORPHA:2237
Weaver Syndrome
Deep-set nails, Thin nail, Fine hair, Sparse hair, Camptodactyly, Limited knee extension, Joint c... OMIM:277590
Pearson Syndrome
Hypoparathyroidism, Diabetes mellitus, Pancreatic fibrosis, Decreased response to growth hormone ... ORPHA:699
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia ORPHA:90362
Prader-Willi Syndrome Due To Translocation
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, External ge... ORPHA:177907
Igg4-Related Submandibular Gland Disease
Cholangitis, Retroperitoneal fibrosis, Abnormality of the thyroid gland, Prostatitis, Enlarged la... ORPHA:449432
Linear Skin Defects With Multiple Congenital Anomalies 3
Thyroid C cell hyperplasia OMIM:300952
Orofaciodigital Syndrome Type 3
Abnormality of hair texture ORPHA:2752
Osteopetrosis With Renal Tubular Acidosis
Elevated circulating creatine kinase concentration, Recurrent fractures, Osteopetrosis, Hypocalce... ORPHA:2785
Pheochromocytoma
Pheochromocytoma, Hypercalcemia, Hyperhidrosis OMIM:171300
Lamb-Shaffer Syndrome
Abnormal social behavior ORPHA:530983
Cholera
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration ORPHA:173
Myhre Syndrome
Vertebral fusion, Small for gestational age, Short stature, Joint stiffness, Limitation of joint ... OMIM:139210
Oculodentodigital Dysplasia
Dry hair, Slow-growing hair, Fine hair, Joint contracture of the 5th finger, Sparse hair, Vertebr... OMIM:164200
Opitz-Kaveggia Syndrome
Multiple joint contractures, Short stature, Fine hair, Frontal upsweep of hair, Camptodactyly, Sp... OMIM:305450
Cockayne Syndrome A
Hip contracture, Dry hair, Anhidrosis, Short stature, Limitation of joint mobility, Ivory epiphys... OMIM:216400
Congenital Disorder Of Glycosylation, Type Ig
Cryptorchidism, Hypocalcemia OMIM:607143
Bloom Syndrome
Male infertility, Azoospermia, Premature ovarian insufficiency, Oligozoospermia ORPHA:125
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Diabetes mellitus, Hyperkalemia, Hypocalcemia, Septic arthritis, Pancreatitis ORPHA:544482
African Trypanosomiasis
Abnormality of the endocrine system, Abnormality of renin-angiotensin system, Abnormal prolactin ... ORPHA:3385
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Curly hair, Abnormal fingernail morphology, Thick hair, Highly arched eyebrow, Short stature, Hyp... ORPHA:444077
Noonan Syndrome 2
Curly hair, Short stature, Sparse eyebrow, Low posterior hairline, Arthrogryposis multiplex conge... OMIM:605275
Holoprosencephaly-Postaxial Polydactyly Syndrome
Cryptorchidism, Abnormality of the hypothalamus-pituitary axis, Thyroid hypoplasia, Adrenal hypop... ORPHA:2166
Cerebellofaciodental Syndrome
Sparse eyebrow, Short stature, Fine hair OMIM:616202
Cranioectodermal Dysplasia 1
Joint laxity, Slow-growing hair, Short nail, Sagittal craniosynostosis, Thin nail, Rhizomelia, Os... OMIM:218330
Somatomammotropinoma
Diabetes mellitus, Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentrati... ORPHA:314769
Scalp-Ear-Nipple Syndrome
Short stature, Sparse axillary hair, Sparse pubic hair, Fine hair, Hypohidrosis, Patchy alopecia,... OMIM:181270
Ablepharon Macrostomia Syndrome
Absent eyebrow, Camptodactyly of finger, Abnormal hair pattern, Absent eyelashes, Fine hair, Grow... ORPHA:920
Treacher-Collins Syndrome
Cryptorchidism, Multiple enchondromatosis, Abnormality of the adrenal glands, Hypoplasia of the t... ORPHA:861
Beckwith-Wiedemann Syndrome
Omphalocele, Hepatomegaly, Adrenocortical cytomegaly, Inguinal hernia, Hypoglycemia, Congenital d... ORPHA:116
Zttk Syndrome
Curly hair, Broad eyebrow, Short stature, Craniosynostosis, Sparse eyebrow, Flexion contracture, ... OMIM:617140
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Absent nipple, Aplasia of the thymus, Congenital hypothyroidism, Hydrocele testis, Hypoplastic ni... OMIM:620186
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Cryptorchidism, Hypocalcemia, Hypoproteinemia, Pancreatic lymphangiectasis ORPHA:1655
Hutchinson-Gilford Progeria Syndrome
Female hypogonadism, Decreased serum leptin, Insulin resistance, Absence of subcutaneous fat, Wei... ORPHA:740
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Curly hair, Short stature, Joint hypermobility, Low anterior hairline, Growth delay, Long eyelash... OMIM:619950
Velocardiofacial Syndrome
Hypoparathyroidism, Cryptorchidism, Hypocalcemia OMIM:192430
Costello Syndrome
Deep-set nails, Hyperextensibility of the finger joints, Curly hair, Short stature, Thin nail, Li... OMIM:218040
Immunodeficiency 82 With Systemic Inflammation
Osteomyelitis, Osteomalacia, Elevated circulating C-reactive protein concentration, Arthritis, Hy... OMIM:619381
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Highly arched eyebrow, Large for gestational age, Fine hair, Hypoplastic nipples, Camptodactyly, ... OMIM:280000
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Thyroid hypoplasia, Adrenal hypoplasia OMIM:308050
Liver Disease, Severe Congenital
Joint laxity, Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Biliary hyperpl... OMIM:619991
Distal Deletion 12Q
Failure to thrive in infancy, Short stature, Elbow flexion contracture, Obesity, Fine hair, Growt... ORPHA:96149
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Growth delay, Brittle hair OMIM:616084
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Osteopenia, Joint laxity, Abnormality of hair texture, Synophrys, Hypoplastic sweat glands, Thick... ORPHA:73223
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hip contracture, Sparse scalp hair, Sparse eyelashes, Shoulder flexion contracture, Sparse eyebro... OMIM:210710
Noonan Syndrome 10
Sparse eyebrow, Curly hair, Short stature OMIM:616564
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Dry hair, Low anterior hairline OMIM:618569
Acromegaly
Diabetes mellitus, Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentrati... ORPHA:963
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperextensibility of the finger joints, Absent gallbladder, Cryptorchidism, Hypocalcemia, Hyperb... ORPHA:163979
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia ORPHA:476126
Monosomy 13Q34
Hypercalcemia ORPHA:96168
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Hyperthyroidism, Cryptorchidism, Multiple suture craniosynostosis, Joint hype... ORPHA:567
Cockayne Syndrome
Anhidrosis, Dry hair, Severe short stature, Cachexia, Postnatal growth retardation, Fine hair, Gr... ORPHA:191
Hennekam Syndrome
Hypocalcemia, Camptodactyly of finger, Craniosynostosis ORPHA:2136
Mend Syndrome
Cryptorchidism, Abnormal social behavior ORPHA:401973
Koolen-De Vries Syndrome Due To A Point Mutation
Hypospadias, Decreased response to growth hormone stimulation test, Testicular neoplasm, Spina bi... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Testicular neoplasm, Spina bi... ORPHA:363958
Adrenomyeloneuropathy
Frontal balding, Fine hair ORPHA:139399
Chand Syndrome
Curly hair, Nail dysplasia, Hypohidrosis ORPHA:1401
Williams Syndrome
Osteopenia, Joint laxity, Increased bone mineral density, Abnormal circulating lipid concentratio... ORPHA:904
Orofaciodigital Syndrome I
Sparse hair, Alopecia, Dry hair, Short stature OMIM:311200
Chime Syndrome
Sparse hair, Osteolysis, Fine hair ORPHA:3474
Childhood Absence Epilepsy
Abnormal social behavior ORPHA:64280
Coffin-Siris Syndrome 1
Joint laxity, Sparse scalp hair, Dry hair, Short stature, Postnatal growth retardation, Hypoplast... OMIM:135900
Cockayne Syndrome Type 3
Premature graying of hair, Dry hair, Flexion contracture, Mild postnatal growth retardation ORPHA:90324
Williams-Beuren Syndrome
Osteopenia, Joint laxity, Diabetes mellitus, Hypercalcemia, Flexion contracture, Osteoporosis, Ea... OMIM:194050
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Joint laxity, Hip contracture, Hyperextensibility of the finger joints, Decreased response to gro... OMIM:619503
Noonan Syndrome 1
Short stature, Failure to thrive in infancy, Postnatal growth retardation, Synovitis, Low posteri... OMIM:163950
Generalized Arterial Calcification Of Infancy
Adrenal calcification, Osteomalacia, Abnormal calcification of the carpal bones, Fused cervical v... ORPHA:51608
Renpenning Syndrome 1
Brittle hair, Short stature, Camptodactyly, Sparse hair, Synostosis of the proximal phalanx of th... OMIM:309500
Craniofacioskeletal Syndrome
Absent gallbladder, Hypocalcemia, Cryptorchidism OMIM:300712
Early-Onset Autosomal Dominant Alzheimer Disease
Abnormal social behavior ORPHA:1020
Ogden Syndrome
Short stature, Sparse eyebrow, Postnatal growth retardation, Fine hair, Growth delay, Long eyelas... OMIM:300855
Focal Dermal Hypoplasia
Joint laxity, Ridged nail, Brittle hair, Short stature, Supernumerary nipple, Patchy alopecia, Na... OMIM:305600
Cystic Fibrosis
Male infertility OMIM:219700
Digeorge Syndrome
Parathyroid agenesis, Decreased circulating parathyroid hormone level, Parathyroid hypoplasia, Hy... OMIM:188400
Exercise-Induced Malignant Hyperthermia
Anhidrosis, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, ... ORPHA:466650
Isotretinoin-Like Syndrome
Hypocalcemia ORPHA:2306
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Curly hair, Failure to thrive in infancy, Sagittal craniosynostosis, Proportionate short stature,... ORPHA:500150
Metachromatic Leukodystrophy, Adult Form
Abnormal social behavior, Neoplasm of the gallbladder ORPHA:309271
Witteveen-Kolk Syndrome
Joint laxity, Medial flaring of the eyebrow, Small for gestational age, Hyperconvex nail, Short s... OMIM:613406
Metachromatic Leukodystrophy, Late Infantile Form
Abnormal social behavior ORPHA:309256
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Failure to thrive, Brittle hair OMIM:124000
Metachromatic Leukodystrophy, Juvenile Form
Abnormal social behavior ORPHA:309263
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Onycholysis, Nail dystrophy OMIM:614748
Woodhouse-Sakati Syndrome
Sparse hair, Alopecia, Fine hair OMIM:241080
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Osteopenia, Hyperextensible thumb, Joint laxity, Curly hair, Short stature, Limitation of joint m... ORPHA:480880
Neuroocular Syndrome
Hyperextensibility of the finger joints, Brittle hair, Short stature, Highly arched eyebrow, Syno... OMIM:619539
Pmm2-Cdg
Osteopenia, Joint laxity, Multiple joint contractures, Hypogonadotropic hypogonadism, Elevated ci... ORPHA:79318
Charge Syndrome
Hypoparathyroidism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:214800
Johanson-Blizzard Syndrome
Joint laxity, Diabetes mellitus, Increased VLDL cholesterol concentration, Conjugated hyperbiliru... OMIM:243800
Sotos Syndrome
Joint laxity, Hip contracture, Hypercalcemia, Ankle flexion contracture, Craniosynostosis, Crypto... ORPHA:821
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Joint laxity, Hypocalcemia OMIM:620330
Dihydropyrimidine Dehydrogenase Deficiency
Abnormal social behavior ORPHA:1675
Vascular Ehlers-Danlos Syndrome
Alopecia, Short stature, Abnormality of hair texture, Abnormal eyelash morphology, Osteoarthritis... ORPHA:286
Tuberous Sclerosis Complex
Pituitary adenoma, Parathyroid hyperplasia, Pheochromocytoma, Parathyroid adenoma, Abnormal socia... ORPHA:805
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Abnormal social behavior ORPHA:314647
Niemann-Pick Disease Type C
Abnormal social behavior ORPHA:646
Alström Syndrome
Short stature, Frontal balding, Obesity, Fine hair, Truncal obesity, Hyperostosis frontalis inter... ORPHA:64

Histopathology

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

There is no histopathology data for Prlr

IMPC related publications

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

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Beta cell adaptation to pregnancy requires prolactin action on both beta and non-beta cells. Scientific reports (May 2021) Prlrtm1a(EUCOMM)Hmgu PMC8121891
56th EASD Annual Meeting of the European Association for the Study of Diabetes : 21-25 September 2020. Diabetologia (August 2020) Prlrtm1a(EUCOMM)Hmgu PMC7445463
Pancreatic prolactin receptor signaling regulates maternal glucose homeostasis. The Journal of endocrinology (February 2019) Prlrtm1a(EUCOMM)Hmgu PMC7189340

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Prlrtm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Prlrtm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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