Gene Summary

Name:
nuclear receptor coactivator 1
Synonyms:
SRC-a/NCoA-1,  KAT13A,  SRC1,  steroid receptor coactivator-1,  SRC-1,  bHLHe74

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating alkaline phosphatase level Ncoa1tm1.1(KOMP)Vlcg HOM Early adult 8.75×10-08
decreased fasting circulating glucose level Ncoa1tm1.1(KOMP)Vlcg HOM Early adult 7.90×10-05
hydrocephaly Ncoa1tm1.1(KOMP)Vlcg HOM Early adult 0.00
increased grip strength Ncoa1tm1.1(KOMP)Vlcg HOM   Early adult 1.34×10-05
increased lean body mass Ncoa1tm1.1(KOMP)Vlcg HOM Early adult 1.33×10-05
decreased total body fat amount Ncoa1tm1.1(KOMP)Vlcg HOM Early adult 2.44×10-05
abnormal brain morphology Ncoa1tm1.1(KOMP)Vlcg HOM Early adult 0.00
increased bone mineral content Ncoa1tm1.1(KOMP)Vlcg HOM Early adult 2.17×10-10
hyperactivity Ncoa1tm1.1(KOMP)Vlcg HOM Early adult 1.56×10-06

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 100% (2 of 2)
Aorta N/A heterozygote 100% (2 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 50% (1 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 100% (2 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 100% (2 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote 50% (1 of 2)
Esophagus N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 50% (1 of 2)
Harderian gland N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Ileum N/A heterozygote 100% (2 of 2)
Jejunum N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 50% (1 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 50% (1 of 2)
Mesenteric lymph node N/A heterozygote 50% (1 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Olfactory lobe N/A heterozygote 100% (2 of 2)
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Parathyroid gland N/A heterozygote Not available
Parotid gland N/A heterozygote 100% (2 of 2)
Penis N/A heterozygote 50% (1 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 50% (1 of 2)
Prostate gland N/A heterozygote 50% (1 of 2)
Quadriceps N/A heterozygote 100% (2 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 50% (1 of 2)
Spleen N/A heterozygote 50% (1 of 2)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 100% (2 of 2)
Submandibular gland N/A heterozygote 100% (2 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 50% (1 of 2)
Tongue N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Trigeminal V nerve N/A heterozygote 100% (2 of 2)
Urinary bladder N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
Vagina N/A heterozygote 50% (1 of 2)
Vas deferens N/A heterozygote 50% (1 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 50% (1 of 2)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Adult LacZ

LacZ Images Section

127 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Ncoa1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Ncoa1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteoporosis, Osteopenia, Hypogonadotropic hypogonadism OMIM:615269
Medial Condensing Osteitis Of The Clavicle
Limited shoulder movement, Elevated circulating C-reactive protein concentration, Patchy reductio... ORPHA:57196
Premature Ovarian Failure 2B
Female infertility, Premature ovarian insufficiency, Delayed puberty, Primary amenorrhea, Osteopo... OMIM:300604
X-Linked Intellectual Disability, Van Esch Type
Coronal craniosynostosis, Male hypogonadism, Failure to thrive, Absence of secondary sex characte... ORPHA:163976
Avascular Necrosis Of Femoral Head, Primary, 1
Generalized osteoporosis OMIM:608805
Xanthoma Disseminatum
Diabetes insipidus, Osteolysis ORPHA:158003
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Osteoporosis, Primary amenorrhea, Gonadal dysgenesis OMIM:233300
Hyaline Fibromatosis Syndrome
Osteopenia, Failure to thrive, Progressive flexion contractures, Osteoporosis, Flexion contractur... OMIM:228600
Hypergonadotropic Hypogonadism-Cataract Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Decreased fertilit... ORPHA:2410
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria, Weight loss, Osteoporosis, Osteolysis ORPHA:100024
Familial Hyperprolactinemia
Osteopenia, Female hypogonadism, Hemorrhagic ovarian cyst, Infertility, Amenorrhea, Oligomenorrhe... ORPHA:397685
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteoporosis, Osteopenia, Delayed puberty OMIM:615271
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Absence of pubertal development, Decreased testicular size, Obesity, Cryptorchidism, Hypogonadotr... OMIM:610628
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Hyperinsulinemia, Obesity, Tall stature OMIM:618406
X-Linked Intellectual Disability, Cilliers Type
Coronal craniosynostosis, Male hypogonadism, Failure to thrive, Absence of secondary sex characte... ORPHA:163971
Isolated Glycerol Kinase Deficiency
Osteoporosis, Adrenocortical hypoplasia, Cryptorchidism, Elevated circulating creatine kinase con... ORPHA:408
Normosmic Congenital Hypogonadotropic Hypogonadism
Absence of pubertal development, Non-obstructive azoospermia, Cryptorchidism, Increased female li... ORPHA:432
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Gout, Type II diabetes mellitus, Hypertriglyceridemia, O... OMIM:610947
Extensor Tendons Of Finger Anomalies
Osteoporosis, Limitation of joint mobility, Camptodactyly of finger ORPHA:3294
Paget Disease Of Bone 4
Osteolysis OMIM:606263
Familial Expansile Osteolysis
Pathologic fracture, Hydroxyprolinuria, Thin bony cortex, Osteolysis OMIM:174810
Ovarian Dysgenesis 8
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Eunuchoid habitus, Hyp... OMIM:618187
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Joint hypermobility, Delayed puberty, Hyperinsulinemic hypoglycemia, Primary a... OMIM:616033
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Obesity, Ty... OMIM:619326
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Osteoporosis, Osteopenia, Absence of pubertal development, Hypogonadism OMIM:615267
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Decreased fertility, Cryptorchidism, Polycystic o... ORPHA:90796
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteoporosis, Osteopenia, Delayed puberty, Hypogonadism OMIM:615270
Forsythe-Wakeling Syndrome
Osteoporosis, Nephrotic syndrome, Decreased body weight OMIM:613606
Osteoporosis
Osteoporosis OMIM:166710
Winchester Syndrome
Generalized osteoporosis, Osteolysis involving tarsal bones, Carpal osteolysis OMIM:277950
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
46,Xy Partial Gonadal Dysgenesis
Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Abnormal vagina morphology,... ORPHA:251510
Chromosome Xq27.3-Q28 Duplication Syndrome
Decreased serum testosterone concentration, Decreased testicular size, Hypogonadism, Cryptorchidi... OMIM:300869
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Reduced bone mineral density, Abnormal cortical bone morphology, Osteolysis ORPHA:970
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... ORPHA:90791
Idiopathic Hypercalciuria
Osteopenia, Renal calcium wasting, Hypercalciuria, Calcium oxalate nephrolithiasis, Osteoporosis ORPHA:2197
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Increased urinary cortisol level, Decreased circulating ACT... OMIM:615954
Hjv Or Hamp-Related Hemochromatosis
Abnormality of iron homeostasis, Abnormality of endocrine pancreas physiology, Increased circulat... ORPHA:79230
Ramon Syndrome
Diabetes mellitus, Osteolysis, Failure to thrive ORPHA:3019
Familial Isolated Hyperparathyroidism
Osteopenia, Nephrocalcinosis, Elevated circulating parathyroid hormone level, Renal insufficiency... ORPHA:99879
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Decreased serum estradiol, Decreased serum testosterone concentration, Reduced response to gonado... OMIM:616030
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Delayed... ORPHA:52901
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Abnormal circulating selenium concentration, Elevated... ORPHA:171706
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Osteopenia, Decreased testicular size, Cryptorchidism, Primary amenorrhea,... OMIM:614880
Perrault Syndrome 4
Decreased serum estradiol, Obesity, Premature ovarian insufficiency, Hypoplasia of the ovary, Oli... OMIM:615300
Pituicytoma
Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Increased circ... ORPHA:251623
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... ORPHA:90793
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test... OMIM:614841
Autosomal Recessive Distal Osteolysis Syndrome
Osteolysis ORPHA:2776
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight, Maturity-onset diabetes of the young OMIM:613375
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity, Abnormality of the kidney OMIM:615988
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Vanishing testis, Decreased serum testosterone co... OMIM:273250
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Limitation of joint mobility, Carpal osteolysis, Camptodactyly of finger, Metacarpal... ORPHA:2774
Keratoderma Hereditarium Mutilans
Hypogonadotropic hypogonadism, Osteolysis ORPHA:494
Pigmented Nodular Adrenocortical Disease, Primary, 1
Osteopenia, Decreased circulating dehydroepiandrosterone concentration, Secondary amenorrhea, Inc... OMIM:610489
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Aminoaciduria, Osteoporosis OMIM:204730
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia, Neural tube defect, Gonadal dysgenesis OMIM:615041
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Anterior hypopitui... ORPHA:2235
Symptomatic Form Of Hfe-Related Hemochromatosis
Abnormality of iron homeostasis, Increased circulating ferritin concentration, Decreased serum te... ORPHA:465508
Estrogen Resistance Syndrome
Delayed epiphyseal ossification, Osteopenia, Absence of secondary sex characteristics, Absence of... ORPHA:785
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... OMIM:228300
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Osteoporosis, Joint hypermobility ORPHA:2787
Diabetes Insipidus, Neurohypophyseal
Osteopenia, Central diabetes insipidus, Decreased circulating osteocalcin level OMIM:125700
Juvenile Hyaline Fibromatosis
Joint stiffness, Progressive flexion contractures, Osteolysis ORPHA:2028
Rothmund-Thomson Syndrome, Type 1
Osteoporosis, Male hypogonadism, Hypothyroidism, Premature ovarian insufficiency OMIM:618625
49,Xyyyy Syndrome
Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De... ORPHA:99330
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Unilateral renal agenesis, Small scrotum, Decreased serum testosterone concentration, Decreased t... OMIM:308700
49,Xxxyy Syndrome
Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De... ORPHA:261534
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Decre... OMIM:618086
Leydig Cell Hypoplasia
Cryptorchidism, Male pseudohermaphroditism, Abnormal internal genitalia, Primary amenorrhea, Fema... ORPHA:755
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Renal phosphate wasting, Osteopenia, Hyperphosphaturia, Increased susceptibility to fractures, Ne... OMIM:612286
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum estradiol, Decreased serum testosterone concentration, Hypogonadism, Decreased te... OMIM:614897
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Osteopenia, Failure to thrive, Hyperlipidemia, Proteinuria, Delayed puberty, Abnormality of the k... ORPHA:369
Prader-Willi syndrome (Type 1)
Hypogonadism, Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Hypogonadism, Truncal obesity DECIPHER:53
Bardet-Biedl Syndrome 10
Hypogonadism, Renal cyst, Obesity, Renal insufficiency OMIM:615987
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Renal phosphate wasting, Osteopenia, Increased susceptibility to fractures, Hyperphosphaturia, Ne... OMIM:612287
Pseudohypoparathyroidism, Type Ic
Elevated circulating parathyroid hormone level, Elevated circulating thyroid-stimulating hormone ... OMIM:612462
Spinocerebellar Ataxia 32
Cerebellar atrophy, Azoospermia, Cognitive impairment, Ataxia, Testicular atrophy, Infertility OMIM:613909
Osteopenia And Sparse Hair
Osteopenia, Joint hypermobility OMIM:259690
Congenital Disorder Of Glycosylation, Type Iik
Failure to thrive, Joint hypermobility, Elevated circulating creatine kinase concentration, Osteo... OMIM:614727
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Craniosynostosis, Congenital hypothyroidism, Obesity ORPHA:88643
Hypocalcemic Vitamin D-Resistant Rickets
Hyperparathyroidism, Coarse metaphyseal trabecularization, Osteomalacia, Recurrent fractures, Hyp... ORPHA:93160
Gorham-Stout Disease
Osteopenia, Cortical irregularity, Osteomyelitis, Pathologic fracture, Osteolysis involving bones... ORPHA:73
Ollier Disease
Precocious puberty, Joint stiffness, Osteolysis ORPHA:296
Spinocerebellar Ataxia Type 32
Cerebellar atrophy, Azoospermia, Cognitive impairment, Testicular atrophy, Male infertility, Prog... ORPHA:276183
Rosaï-Dorfman Disease
Osteolysis ORPHA:158014
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Dec... ORPHA:168563
Hypogonadotropic Hypogonadism 25 With Anosmia
Decreased serum estradiol, Decreased serum testosterone concentration, Hypothalamic gonadotropin-... OMIM:618841
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Joint stiffness, Obesity ORPHA:1078
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Non-obstructive azoospermia, Streak ovary, Cryptorchidism, Aplasia of the ovary, Primary amenorrh... ORPHA:2232
Syndromic X-Linked Intellectual Disability 7
Hypogonadism, Obesity, Cryptorchidism, Micropenis, Hypoplasia of penis ORPHA:85274
Morgagni-Stewart-Morel Syndrome
Obesity, Abnormality of the thyroid gland, Hyperuricemia, Hypothyroidism, Hypercholesterolemia, O... ORPHA:77296
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Pseudohypoparathyroidism, Type Ia
Elevated circulating parathyroid hormone level, Hyperphosphatemia, Low urinary cyclic AMP respons... OMIM:103580
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Micropenis, Osteoporosis, Hypogonadotropic hypogonadism, Decreased testicular size OMIM:614838
Flynn-Aird Syndrome
Osteoporosis, Joint stiffness, Increased bone density with cystic changes, Increased bone mineral... OMIM:136300
Pigmented Nodular Adrenocortical Disease, Primary, 2
Osteopenia, Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, ... OMIM:610475
Delayed Puberty, Self-Limited
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Delayed puberty, Decre... OMIM:619613
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia
Osteopenia, Hypogonadotropic hypogonadism OMIM:615266
Paget Disease Of Bone 3
Patchy osteosclerosis, Fractures of the long bones, Osteolysis OMIM:167250
Perrault Syndrome 1
Increased circulating gonadotropin level, Osteoporosis, Gonadal dysgenesis, Primary amenorrhea OMIM:233400
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Type I diabetes mellitus, Carpal osteolysis, Osteolysis involving tarsal bones, Incre... ORPHA:371428
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Large for gestational age, Truncal obesity ORPHA:293964
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Abnor... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Abnor... ORPHA:289548
Maffucci Syndrome
Pituitary adenoma, Osteolysis, Goiter, Neoplasm of the parathyroid gland, Parathyroid adenoma, Ov... ORPHA:163634
Functioning Gonadotropic Adenoma
Ovarian cyst, Oligozoospermia, Osteopenia, Decreased response to growth hormone stimulation test,... ORPHA:91348
Leptin Deficiency Or Dysfunction
Hypogonadism, Decreased testicular size, Obesity, Primary amenorrhea, Micropenis, Decreased serum... OMIM:614962
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Bardet-Biedl Syndrome 5
Micropenis, External genital hypoplasia, Obesity, Hypogonadism OMIM:615983
Progeria-Short Stature-Pigmented Nevi Syndrome
Osteopenia, Decreased serum estradiol, Small for gestational age, Insulin-resistant diabetes mell... ORPHA:2959
Aromatase Deficiency
Delayed epiphyseal ossification, Osteopenia, Female infertility, Male infertility, Ambiguous geni... ORPHA:91
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Large for gestational age, Aggressive behavior, Hyperactivity ORPHA:356996
Pigmented Nodular Adrenocortical Disease, Primary, 4
Osteopenia, Increased circulating cortisol level, Primary hypercortisolism, Adrenal hyperplasia, ... OMIM:615830
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Hypogonadism, Abnormality of the ureter, Obesity, Cryptorchidism, Osteop... ORPHA:3409
Spermatogenic Failure, X-Linked, 1
Sertoli cell-only phenotype, Obesity OMIM:305700
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification, Diabetes mellitus OMIM:602475
Osteosarcoma
Pathologic fracture, Weight loss, Osteolysis ORPHA:668
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Decreased serum insulin-like growth factor 1, Delayed puberty, Truncal obesity ORPHA:140941
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Attention deficit hyperactivity disorder, Motor stereotypy, Hydrocephalus OMIM:618709
Acth-Independent Macronodular Adrenal Hyperplasia
Osteopenia, Increased circulating cortisol level, Decreased circulating ACTH concentration, Macro... OMIM:219080
Woodhouse-Sakati Syndrome
Osteopenia, Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased response to... ORPHA:3464
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Osteoporosis, Cryptorchidism ORPHA:2958
Pseudopseudohypoparathyroidism
Osteoporosis, Obesity, Pseudohypoparathyroidism OMIM:612463
Senior-Loken Syndrome 9
Osteopenia, Nephronophthisis, Hypogonadism, Obesity, Stage 5 chronic kidney disease, Tubulointers... OMIM:616629
Short Stature, Dauber-Argente Type
Osteopenia, Reduced bone mineral density, Increased insulin like growth factor binding protein ac... OMIM:619489
Desmoid Tumor
Hydronephrosis, Abnormality of the upper urinary tract, Limitation of joint mobility, Osteolysis ORPHA:873
Spermatogenic Failure, X-Linked, 4
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos... OMIM:301077
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Finger joint hypermobility, Obesity ORPHA:436141
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... OMIM:616000
Ane Syndrome
Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth hormone stimula... ORPHA:157954
Prieto Syndrome
Osteoporosis, Cryptorchidism OMIM:309610
Bardet-Biedl Syndrome 16
Renal agenesis, Hypogonadism, External genital hypoplasia, Stage 5 chronic kidney disease, Renal ... OMIM:615993
Fanconi Renotubular Syndrome 2
Renal phosphate wasting, Generalized aminoaciduria, Osteopenia, Proximal tubulopathy, Rickets, Gl... OMIM:613388
Epiphyseal Chondrodysplasia, Miura Type
Osteopenia, Increased urinary type 1 collagen N-terminal telopeptide level, Tall stature, Abnorma... OMIM:615923
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Urinary bladder sphincter dysfunction, Pathologic fracture, Increased susceptibility to fractures... ORPHA:52430
Gnathodiaphyseal Dysplasia
Osteopenia, Recurrent fractures, Mandibular osteomyelitis, Thickened cortex of long bones ORPHA:53697
Autosomal Recessive Spastic Paraplegia Type 26
Decreased serum testosterone concentration, Premature ovarian insufficiency, Abnormality of the u... ORPHA:101006
Infantile Myofibromatosis
Limitation of joint mobility, Osteolysis, Hypercalcemia, Abnormality of the kidney, Bone cyst, Ne... ORPHA:2591
Coronary Artery Disease, Autosomal Dominant, 1
Obesity, Diabetes mellitus, Hypercholesterolemia OMIM:608320
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Decreased testicular size, Ty... ORPHA:453533
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Primary amenorrhea, De... OMIM:614839
Rhyns Syndrome
Chronic kidney disease, Osteopenia, Nephronophthisis, Decreased response to growth hormone stimul... OMIM:602152
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Craniofacial osteosclerosis, Osteomyelitis, Hyperostosis, Weight loss, Arthritis, Elevated circul... ORPHA:324964
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset truncal obesity, Hypertrigl... ORPHA:71529
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Small for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Goiter... OMIM:274300
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Osteoporosis ORPHA:2786
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoinsulinemia, Large for gestational age, Obesity, Truncal obesity OMIM:240900
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Irregular menstruation, Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine n... ORPHA:189427
Paget Disease Of Bone 2, Early-Onset
Fractures of the long bones, Hydroxyprolinuria, Sclerosis of skull base, Increased susceptibility... OMIM:602080
Hutchinson-Gilford Progeria Syndrome
Generalized osteoporosis, Osteolysis OMIM:176670
Nestor-Guillermo Progeria Syndrome
Failure to thrive, Pathologic fracture, Decreased serum leptin, Joint stiffness, Mandibular osteo... OMIM:614008
Fibrous Dysplasia Of Bone
Increased circulating cortisol level, Osteomalacia, Ovarian cyst, Hypophosphatemia, Elevated circ... ORPHA:249
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Failure to thrive, Bilateral cryptorchidism, Decr... OMIM:305400
Hemochromatosis, Type 1
Impotence, Increased circulating iron concentration, Increased circulating ferritin concentration... OMIM:235200
Hydrocephalus, Autosomal Dominant
Sagittal craniosynostosis, Hydrocephalus, Dandy-Walker malformation OMIM:123155
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Type I diabetes mellitus, Proximal tubulopathy, Rickets, Failure to thrive, Polyuria, Osteoporosis OMIM:560000
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Periostitis, Osteopenia, Failure to thrive in infancy, Osteomyelitis, Elevated circulating C-reac... OMIM:612852
Classic Hodgkin Lymphoma
Weight loss, Osteolysis ORPHA:391
Post-Traumatic Pituitary Deficiency
Osteopenia, Decreased response to growth hormone stimulation test, Decreased circulating ACTH con... ORPHA:95619
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Decreased circulating parathyroid hormone level, Increased circulating beta-C-terminal telopeptid... ORPHA:157215
Bardet-Biedl Syndrome 18
Obesity, Stage 5 chronic kidney disease, Renal insufficiency OMIM:615995
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Osteoporosis OMIM:619971
Sim1-Related Prader-Willi-Like Syndrome
Premature adrenarche, Small scrotum, Absence of pubertal development, Type II diabetes mellitus, ... ORPHA:398079
Warburg Micro Syndrome 1
Failure to thrive, External genital hypoplasia, Cryptorchidism, Joint hypermobility, Osteoporosis OMIM:600118
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Osteopenia, Absence of pubertal development, Azoospermia, Decreased testicular size, Cryptorchidi... OMIM:614837
Osteogenesis Imperfecta, Type Xxiii
Osteopenia, Reduced bone mineral density, Recurrent fractures, Truncal obesity OMIM:620639
Classic Galactosemia
Cryptorchidism, Premature ovarian insufficiency, Decreased serum insulin-like growth factor 1, De... ORPHA:79239
Bardet-Biedl Syndrome 14
Obesity, Renal insufficiency OMIM:615991
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation, Elevated circulating creatine kinase concentration OMIM:607091
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Osteoporosis, Hypogonadotropic hypogonadism, Finger joint contracture, Flexion contracture of toe ORPHA:48431
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation, Orbital craniosynostosis ORPHA:1538
Congenital Bile Acid Synthesis Defect Type 1
Osteoporosis, Failure to thrive ORPHA:79301
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Adenohypophysitis
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:95512
Morbid Obesity And Spermatogenic Failure
Azoospermia, Obesity, Type II diabetes mellitus, Increased LDL cholesterol concentration, Hypertr... OMIM:615703
Mucolipidosis Type Iii Alpha/Beta
Oligosacchariduria, Keratan sulfate excretion in urine, Joint stiffness, Generalized osteoporosis... ORPHA:423461
Xq27.3Q28 Duplication Syndrome
Failure to thrive, Hypogonadism, Decreased testicular size, Cryptorchidism, Truncal obesity ORPHA:261483
Panhypophysitis
Increased circulating prolactin concentration, Abnormal posterior pituitary morphogenesis, Decrea... ORPHA:95513
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Hydrocephalus OMIM:615938
Tenosynovial Giant Cell Tumor
Limitation of joint mobility, Localized osteoporosis, Joint stiffness, Joint hemorrhage, Osteolysis ORPHA:66627
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hypoplasia of penis, Aplasia/Hypoplasia of the testes, Cryptorchidism, Obesity ORPHA:3055
Mitochondrial Complex I Deficiency, Nuclear Type 11
Osteoporosis, Failure to thrive OMIM:618234
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
Hypercholanemia, Familial, 2
Osteopenia, Unconjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:619256
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Elbow flexion contracture, Aggressive behavior, Hyperactivity, Hydrocephalus, Motor stereotypy OMIM:619470
Bardet-Biedl Syndrome 4
Hypogonadism, External genital hypoplasia, Obesity, Cryptorchidism, Renal cyst, Abnormality of th... OMIM:615982
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity, Cryptorchidism OMIM:309585
Temple Syndrome
Precocious puberty, Maturity-onset diabetes of the young, Decreased testicular size, Obesity, Cry... OMIM:616222
Premature Aging Syndrome, Okamoto Type
Osteoporosis, Diabetes mellitus OMIM:601811
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... ORPHA:98754
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Increased susceptibility to fractures, Joint hypermobility, Isosexual precocious pube... ORPHA:2788
46,Xx Gonadal Dysgenesis
Decreased serum estradiol, Osteopenia, Aplasia/hypoplasia of the uterus, Gonadal dysgenesis, Stre... ORPHA:243
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Low urinary cyclic AMP respons... OMIM:603233
Frank-Ter Haar Syndrome
Joint stiffness, Osteolysis, Camptodactyly of finger ORPHA:137834
Gaucher Disease Type 1
Elevated circulating CCL18 level, Osteopenia, Cholelithiasis, Increased circulating ferritin conc... ORPHA:77259
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Centr... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Centr... ORPHA:71526
Hyperparathyroidism 4
Osteopenia, Parathyroid carcinoma, Nephrolithiasis, Hypercalcemia, Primary hyperparathyroidism OMIM:617343
Pituitary Adenoma 4, Acth-Secreting
Pituitary adenoma, Increased circulating ACTH level, Obesity, Nephrolithiasis, Hypokalemia, Oligo... OMIM:219090
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Hydrocephalus OMIM:615937
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... ORPHA:98793
Spermatogenic Failure 44
Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreased testicular size... OMIM:619044
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Reduced bone mineral density, Small for gestational age, Delayed ossification of carpal bones, De... OMIM:618392
Pineocytoma
Increased CSF protein concentration, Hydrocephalus ORPHA:251912
Osteogenesis Imperfecta, Type Xxii
Abnormal blood phosphate concentration, Decreased circulating osteocalcin level, Thin bony cortex... OMIM:619795
Kallmann Syndrome With Spastic Paraplegia
Sparse pubic hair, Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogo... OMIM:308750
Juvenile Paget Disease
Coarse metaphyseal trabecularization, Cranial hyperostosis, Hyperuricemia, Osteoporosis, Recurren... ORPHA:2801
Spastic Paraplegia 26, Autosomal Recessive
Decreased serum testosterone concentration, Urinary urgency OMIM:609195
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Male hypogonadism, Cryptorchidism, Joint contracture, Hypertriglyceridemia, Osteoporosis, Diabete... OMIM:615381
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... ORPHA:177904
Edinburgh Malformation Syndrome
Hydrocephalus, Neonatal hyperbilirubinemia, Failure to thrive OMIM:129850
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... ORPHA:177901
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Neonatal hyperbilirubinemia, Failure to thrive, Hypogonadism, Truncal obesity, Osteoporosis, Smal... ORPHA:73272
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Osteoporosis ORPHA:71267
Sialidosis Type 2
Nephropathy, Osteoporosis, Flexion contracture ORPHA:87876
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Hyperphosphatemia, Hydroxyprolinuria, Failure to thrive, Increased bone mineral densi... OMIM:239000
Peroxisome Biogenesis Disorder 3B
Failure to thrive, Hypocholesterolemia, Elevated circulating phytanic acid concentration, Osteopo... OMIM:266510
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Generalized osteoporosis, Homocystinuria, Hypermethioninemia, Limitation of joint mobility, Failu... OMIM:236200
Pseudopseudohypoparathyroidism
Obesity, Ectopic ossification ORPHA:79445
Dermatoosteolysis, Kirghizian Type
Tarsal synostosis, Osteolysis, Osteoarthritis ORPHA:1657
Diffuse Cutaneous Systemic Sclerosis
Oliguria, Renal insufficiency, Dyspareunia, Arthritis, Flexion contracture, Osteolysis ORPHA:220393
1Q21.1 Microduplication Syndrome
Hydrocephalus, Attention deficit hyperactivity disorder, Arthrogryposis multiplex congenita, Fail... ORPHA:250994
Richards-Rundle Syndrome
Joint stiffness, Reduced bone mineral density, Ketonuria, Hypergonadotropic hypogonadism ORPHA:1399
Obesity And Hypopigmentation
Overgrowth, Hyperinsulinemia, Obesity OMIM:620195
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Osteopenia, Bicoronal synostosis, Cryptorchidism, Joint hypermobility, Hypogonadotropic hypogonad... OMIM:619718
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Hypophosphatemia, Elevated circulating parathyroid hormone level, Hypocalcemia OMIM:619073
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Osteopenia, Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medulla... OMIM:611555
Mehmo Syndrome
External genital hypoplasia, Obesity, Cryptorchidism, Micropenis, Hypoplasia of penis, Diabetes m... ORPHA:85282
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Osteopenia, Small for gestational age, Failure to thrive, Slender build ORPHA:50811
H Syndrome
Osteolysis, Hypogonadism, Decreased testicular size, Azoospermia, Amenorrhea, Camptodactyly, Dela... ORPHA:168569
Camurati-Engelmann Disease, Type 2
Osteopenia, Hypogonadism, Hyperostosis, Hip contracture, Knee flexion contracture, Delayed pubert... OMIM:606631
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Elevated circulating alpha-aminoadipic semialdehyde concentration, Hydrocephalus, Elevated circul... OMIM:266100
Biemond Syndrome Type 2
Hypogonadism, Obesity, Hypogonadotropic hypogonadism, Delayed puberty, Hypospadias ORPHA:141333
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Obesity ORPHA:329249
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Decreased response to growth hormone stimulation test, Hypercalcemia, Cryptorchidism,... OMIM:614732
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormality of the kidney, Ab... ORPHA:1772
Kallmann Syndrome
Renal agenesis, Abnormal morphology of female internal genitalia, Anterior hypopituitarism, Breas... ORPHA:478
47,Xyy Syndrome
Varicocele, Dysgenesis of the cerebellar vermis, Cerebellar dysplasia, Azoospermia, Cryptorchidis... ORPHA:8
Spermatogenic Failure 15
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin... OMIM:616950
Prolactinoma
Central adrenal insufficiency, Decreased fertility in females, Elevated circulating growth hormon... ORPHA:2965
Multiple Endocrine Neoplasia Type 1
Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma... ORPHA:652
Chondroectodermal Dysplasia With Night Blindness
Osteoporosis, Osteopenia, Fractures of the long bones ORPHA:319195
Aggressive Systemic Mastocytosis
Pathologic fracture, Osteoporosis, Weight loss, Osteolysis ORPHA:98850
Testicular Agenesis
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Decreased serum testostero... ORPHA:325124
Cortisone Reductase Deficiency 2
Obesity, Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio, Premature... OMIM:614662
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Maturity-onset diabetes of the young, Obesity, Joint hypermobility, Hyperchol... ORPHA:254531
Hall-Riggs Syndrome
Osteoporosis, Failure to thrive OMIM:234250
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Mody
Nephropathy, Abnormal circulating insulin concentration, Glycosuria, Insulin-resistant diabetes m... ORPHA:552
Prader-Willi Syndrome
Premature adrenarche, Small scrotum, Central adrenal insufficiency, Cryptorchidism, Hypoplastic l... ORPHA:739
Idiopathic Juvenile Osteoporosis
Osteoporosis, Recurrent fractures ORPHA:85193
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Decreased testicular size, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Cryptorchidism, ... ORPHA:3085
Erdheim-Chester Disease
Osteomyelitis, Renal insufficiency, Hydronephrosis, Hypogonadotropic hypogonadism, Weight loss, I... ORPHA:35687
46,Xx Sex Reversal 2
Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased serum tes... OMIM:278850
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Type I diabetes mellitus, Elevated circulating luteinizing hormone level, Decreased serum testost... ORPHA:3044
Werner Syndrome
Hypogonadism, Elevated hemoglobin A1c, Hypertriglyceridemia, Osteoporosis, Reduced bone mineral d... OMIM:277700
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Felty Syndrome
Limitation of joint mobility, Recurrent urinary tract infections, Synovitis, Weight loss, Arthrit... ORPHA:47612
Cerebrooculofacioskeletal Syndrome 1
Joint contracture of the hand, Failure to thrive, Elbow flexion contracture, Cryptorchidism, Knee... OMIM:214150
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Reduced bone mineral density, Delayed ossification of carpal bones OMIM:617974
Beta-Thalassemia Intermedia
Osteopenia, Cholelithiasis, Proximal tubulopathy, Abnormality of iron homeostasis, Hypogonadism, ... ORPHA:231222
Xp21 Deletion Syndrome
Adrenal insufficiency, Primary adrenal insufficiency, Joint hypermobility, Elevated circulating c... ORPHA:261476
Nasu-Hakola Disease
Ventriculomegaly, Reduced bone mineral density, Disinhibition, Hydrocephalus, Abnormal adipose ti... ORPHA:2770
Hernández-Aguirre Negrete Syndrome
Obesity, Delayed puberty ORPHA:2139
Spermatogenic Failure 2
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm... OMIM:108420
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Nesidioblastosis, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell... OMIM:601820
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Failure to thrive, Hypogonadism, Decreased testicular size, Decreased serum testosterone concentr... OMIM:201100
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Acroosteolysis of distal phalanges (feet), Delayed puberty, Calcinosis, Osteolyti... ORPHA:90154
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity, Osteoarthritis ORPHA:2206
Dietary Iron Overload Disease
Abnormal thyroid morphology, Increased circulating cortisol level, Abnormal pancreas morphology, ... ORPHA:139507
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Small scrotum, Hypogonadism, Decreased testicular size, Obesity, Abnormality of the thyroid gland... ORPHA:2234
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Hypouricemia, Nephrocalcinosis, Rickets, Glycosuria, Large for gestational age, Hy... OMIM:616026
Bruck Syndrome 1
Ankle flexion contracture, Elbow flexion contracture, Increased susceptibility to fractures, Knee... OMIM:259450
Spermatogenic Failure 77
Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor... OMIM:620103
Acrodysostosis 2 With Or Without Hormone Resistance
Congenital hypothyroidism, Obesity, Cryptorchidism, Advanced ossification of carpal bones, Hyposp... OMIM:614613
Hyperzincemia With Functional Zinc Depletion
Osteoporosis, Increased serum zinc OMIM:601979
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Magel2-Related Prader-Willi-Like Syndrome
Small scrotum, Absence of pubertal development, Type II diabetes mellitus, Cryptorchidism, Increa... ORPHA:398069
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Calvarial Doughnut Lesions With Bone Fragility
Osteoporosis, Osteopenia, Recurrent fractures OMIM:126550
Osteogenesis Imperfecta, Type Xii
Hypermobility of interphalangeal joints, Osteoporosis, Generalized osteoporosis, Recurrent fractu... OMIM:613849
Infantile Systemic Hyalinosis
Osteopenia, Aplasia/Hypoplasia of the thymus, Failure to thrive, Camptodactyly of finger, Osteoma... ORPHA:2176
Pachydermoperiostosis
Limitation of joint mobility, Osteomyelitis, Abnormal cortical bone morphology, Elevated circulat... ORPHA:2796
Ruijs-Aalfs Syndrome
Elbow flexion contracture, Osteoporosis, Decreased body weight, Hypogonadism OMIM:616200
Prader-Willi Syndrome
Small scrotum, Hyperinsulinemia, Type II diabetes mellitus, Cryptorchidism, Primary amenorrhea, P... OMIM:176270
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Irregular menstruation, Failure to thrive, Renal tubular acidosis, Polycystic ovaries, Dysmenorrh... ORPHA:264580
Parathyroid Carcinoma
Nephrocalcinosis, Elevated circulating parathyroid hormone level, Renal hamartoma, Parathyroid ca... ORPHA:143
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Estrogen Resistance
Osteopenia, Breast aplasia, Hyperinsulinemia, Increased serum estradiol, Polycystic ovaries, Incr... OMIM:615363
Borjeson-Forssman-Lehmann Syndrome
Hypoplasia of the prostate, Obesity, Cryptorchidism, Delayed puberty, Micropenis OMIM:301900
Body Mass Index Quantitative Trait Locus 19
Increased serum leptin, Hyperinsulinemia, Obesity, Hyperlipidemia, Hypertriglyceridemia OMIM:617885
Bardet-Biedl Syndrome 8
Hypogonadism, Obesity, Hypospadias, Renal dysplasia OMIM:615985
Mandibuloacral Dysplasia With Type A Lipodystrophy
Limitation of joint mobility, Breast aplasia, Hyperlipidemia, Acroosteolysis of distal phalanges ... ORPHA:90153
Mehmo Syndrome
Male hypogonadism, Decreased response to growth hormone stimulation test, Obesity, Delayed pubert... OMIM:300148
Laurence-Moon Syndrome
Obesity, Type II diabetes mellitus, Renal insufficiency, Cryptorchidism, Displacement of the uret... ORPHA:2377
Mccune-Albright Syndrome
Renal phosphate wasting, Increased circulating cortisol level, Increased circulating prolactin co... ORPHA:562
Bruck Syndrome
Osteoporosis, Joint stiffness, Arthrogryposis multiplex congenita, Recurrent fractures ORPHA:2771
Progressive Familial Intrahepatic Cholestasis
Reduced bone mineral density, Failure to thrive, Hypocalcemia ORPHA:172
Thymic Neuroendocrine Tumor
Calcium nephrolithiasis, Osteopenia, Pituitary adenoma, Increased circulating cortisol level, Pit... ORPHA:97289
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Osteoporosis, Osteopenia ORPHA:529665
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Attention deficit hyperactivity disorder, Congenital diaphragmatic hernia, Frontal... ORPHA:261102
Propionic Acidemia
Hyperglycinuria, Increased level of hippuric acid in urine, Failure to thrive, Hyperglycinemia, H... OMIM:606054
Bardet-Biedl Syndrome 2
Hypogonadism, External genital hypoplasia, Diabetes mellitus, Obesity OMIM:615981
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Summitt Syndrome
Craniosynostosis, Obesity, Tall stature, Camptodactyly of finger ORPHA:3210
Cranioectodermal Dysplasia
Osteoporosis, Craniosynostosis, Joint hypermobility ORPHA:1515
Bardet-Biedl Syndrome 22
Hypogonadism, Obesity, Large for gestational age OMIM:617119
Kallmann Syndrome-Heart Disease Syndrome
Osteopenia, Renal agenesis, Bilateral cryptorchidism, Decreased testicular size, Hypogonadotropic... ORPHA:2326
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Absence of pubertal developm... OMIM:619755
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Chudley-Mccullough Syndrome
Ventriculomegaly, Hydrocephalus OMIM:604213
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Maturity-onset diabetes of the young, Obesity, Cryptorchidism, Joint hypermob... ORPHA:96184
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Osteogenesis Imperfecta, Type Xiii
Enuresis nocturna, Increased bone mineral density, Joint hypermobility, Decreased body weight, Li... OMIM:614856
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Osteoporosis OMIM:620532
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Nephropathy, Abnormal vagina morphology, Abnormality of the uterus, Obesity, Streak ovary, Renal ... OMIM:194072
Hyperparathyroidism-Jaw Tumor Syndrome
Nephrocalcinosis, Elevated circulating parathyroid hormone level, Renal hamartoma, Pancreatic ade... ORPHA:99880
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Irregular menstruation, Renal tubular acidosis, Dysmenorrhea, Polycystic ovaries, Increased body ... ORPHA:79240
Developmental And Epileptic Encephalopathy 36
Flexion contracture, Hydrocephalus, Self-mutilation OMIM:300884
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Elevated circulating parathyroid hormone level, Rickets... OMIM:600785
Proprotein Convertase 1/3 Deficiency
Elevated circulating proinsulin concentration, Obesity, Hypogonadotropic hypogonadism, Decreased ... OMIM:600955
Porphyria, Congenital Erythropoietic
Osteopenia, Joint contracture of the hand, Cholelithiasis, Pathologic fracture, Elevated circulat... OMIM:263700
Adrenomyodystrophy
Abnormality of the urinary system, Failure to thrive, Megacystis, Primary adrenal insufficiency, ... ORPHA:977
Woodhouse-Sakati Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Decreased serum testosterone conc... OMIM:241080
Werner Syndrome
Secondary amenorrhea, Hypogonadism, Slender build, Joint stiffness, Thyroid carcinoma, Type II di... ORPHA:902
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Camptodactyly, Osteoporosis OMIM:616006
Kleeblattschaedel
Craniosynostosis, Hydrocephalus OMIM:148800
Cortisone Reductase Deficiency 1
Precocious puberty, Infertility, Obesity, Oligomenorrhea OMIM:604931
Gaucher Disease Type 3
Increased susceptibility to fractures, Hematuria, Proteinuria, Delayed puberty, Increased bone mi... ORPHA:77261
Mycetoma
Painless fractures due to injury, Pathologic fracture, Osteomyelitis, Osteoporosis, Bone cyst, Ab... ORPHA:2583
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Osteoarthritis of the elbow, Camptodactyly of finger, Camptodactyly of toe, Knee osteoarthritis, ... ORPHA:2848
Intellectual Developmental Disorder, X-Linked 111
Phonic tics, Ventriculomegaly, Aggressive behavior, Hyperactivity, Compulsive behaviors OMIM:301107
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Ankylosis, Osteolysis ORPHA:659
Gnathodiaphyseal Dysplasia
Osteopenia, Increased susceptibility to fractures, Diaphyseal cortical sclerosis, Osteomyelitis OMIM:166260
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Gout, Hyperlipidemia, H... OMIM:232200
48,Xxyy Syndrome
Decreased testicular size, Azoospermia, Tall stature, Type II diabetes mellitus, Cryptorchidism, ... ORPHA:10
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoporosis, Synostosis of carpal bones, Limitation of joint mobility, Osteoarthritis ORPHA:93351
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Renal hypoplasia, Renal agenesis, Obesity, Cryptorchidism, Radioulnar synostosis, Micropenis, Cra... ORPHA:171839
Bardet-Biedl Syndrome 7
Hypogonadism, Obesity OMIM:615984
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Hypogonadism, Obesity, Decreased fertility, Abnormal testis morphology ORPHA:2233
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Lambdoidal craniosynostosis, Osteopenia, Nephrocalcinosis, Hydroureter, Ureteral stenosis, Large ... OMIM:615398
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus OMIM:166990
Amish Lethal Microcephaly
Osteoporosis, Limitation of joint mobility, Organic aciduria, Decreased skull ossification ORPHA:99742
Bardet-Biedl Syndrome 19
Renal hypoplasia, Hypogonadism, External genital hypoplasia, Obesity, Renal insufficiency, Hydron... OMIM:615996
Paternal Uniparental Disomy Of Chromosome 1
Obesity, Proteinuria, Delayed puberty, Increased blood urea nitrogen, Membranoproliferative glome... ORPHA:251004
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Obesity, Enuresis OMIM:613670
Lipodystrophy, Congenital Generalized, Type 4
Osteopenia, Failure to thrive, Hyperinsulinemia, Elevated circulating creatine kinase concentrati... OMIM:613327
Morm Syndrome
Micropenis, Truncal obesity, Abnormality of the kidney ORPHA:75858
Intellectual Developmental Disorder, X-Linked 91
Obesity OMIM:300577
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Osteopenia, Limitation of joint mobility, Symmetric polyarthritis, Synovitis, Arthritis, Elevated... ORPHA:85435
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Obesity, Reduced circulating prolactin concentration OMIM:264120
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II diabetes mellitus, Polycystic ovar... ORPHA:2298
Menkes Disease
Osteoporosis, Decreased circulating ceruloplasmin concentration, Joint hypermobility OMIM:309400
Familial Dysautonomia
Osteolysis, Renal insufficiency, Hyponatremia, Glomerulopathy, Abnormality of the kidney, Recurre... ORPHA:1764
Spondyloepiphyseal Dysplasia, Maroteaux Type
Generalized osteoporosis, Mucopolysacchariduria, Small joint hypermobilty OMIM:184095
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Hypophosphatemia, Craniosynostosis, Increased bone mineral den... OMIM:241520
Refractory Celiac Disease
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Weight loss, Osteoporosis, Hypop... ORPHA:398063
Gamma-Heavy Chain Disease
Rheumatoid arthritis, Osteolysis ORPHA:100026
Thrombocytopenia 6
Osteoporosis, Myelofibrosis OMIM:616937
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Premature adrenarche, Clitoral hypertrophy, Decreased circulating renin level, Polycystic ovaries... ORPHA:90795
Methylcobalamin Deficiency Type Cble
Failure to thrive, Hypomethioninemia, Glomerulopathy, Hyperhomocystinemia, Osteoporosis, Hemolyti... ORPHA:2169
Tsh-Secreting Pituitary Adenoma
Increased circulating prolactin concentration, Central adrenal insufficiency, Decreased fertility... ORPHA:91347
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Aicardi-Goutieres Syndrome 9
Thickened glomerular basement membrane, Hypoalbuminemia, Failure to thrive, Recurrent urinary tra... OMIM:619487
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Obesity ORPHA:369873
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Elevated circulating parathyroid hormone level, Hyperphosphatemia, Hypercalcemia, Met... OMIM:617994
Adrenocortical Carcinoma
Increased circulating cortisol level, Abnormality of reproductive system physiology, Increased ur... ORPHA:1501
Progressive Pseudorheumatoid Dysplasia
Joint contracture of the hand, Camptodactyly of finger, Joint stiffness, Osteoarthritis, Osteopor... OMIM:208230
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Osteopenia, Limitation of joint mobility, Osteolytic defects of the phalanges of the hand, Arthri... OMIM:259100
Lysinuric Protein Intolerance
Increased LDL cholesterol concentration, Hyperglycinemia, Glomerulonephritis, Tubulointerstitial ... ORPHA:470
Hepatoerythropoietic Porphyria
Osteopenia, Red-brown urine, Purple urine, Abnormal circulating porphyrin concentration, Red urin... ORPHA:95159
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Obesity OMIM:620270
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Stage 5 chronic kidney disease, Hyperlipid... OMIM:608612
Indolent Systemic Mastocytosis
Osteoporosis ORPHA:98848
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity, Self-mutilation, Polyphagia, Aggressive behavior, Hydrocephalus OMIM:616521
Fanconi Renotubular Syndrome 1
Aminoaciduria, Rickets, Glycosuria, Osteomalacia, Low-molecular-weight proteinuria, Renal insuffi... OMIM:134600
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Micropenis, Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Chung-Jansen Syndrome
Obesity, Cryptorchidism, Joint hypermobility OMIM:617991
Fanconi Renotubular Syndrome 3
Aminoaciduria, Rickets, Glycosuria, Low-molecular-weight proteinuria, Elevated circulating creati... OMIM:615605
Hypophosphatemic Rickets And Hyperparathyroidism
Renal phosphate wasting, Hyperparathyroidism, Rickets, Elevated circulating parathyroid hormone l... OMIM:612089
Insulin-Like Growth Factor I Deficiency
Osteopenia, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone con... OMIM:608747
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction ORPHA:481
Meningioma
Decreased serum estradiol, Secondary growth hormone deficiency, Impotence, Hypothalamic hypothyro... ORPHA:2495
3-Methylglutaconic Aciduria, Type Iv
Cerebellar dysplasia, Cryptorchidism OMIM:250951
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Multiple lipomas, Hydrocephalus, Lipoma, Anencephaly OMIM:182940
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating luteinizing hormone level, Dilatation of the renal pelvis, Limitation of joi... ORPHA:95699
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Hyperinsulinemia, Hypophosphatemic rickets, Large for gestational age, Pancreatic isl... ORPHA:263455
Dent Disease 1
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo... OMIM:300009
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Schwartz-Jampel Syndrome, Type 1
Joint contracture of the hand, Shoulder flexion contracture, Decreased testicular size, Hip contr... OMIM:255800
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Chromomycosis
Ankylosis, Osteolysis ORPHA:182
Osteopetrosis, Autosomal Recessive 9
Hyperparathyroidism, Cortical sclerosis, Stage 3 chronic kidney disease, Pathologic fracture, Ele... OMIM:620366
19P13.3 Microduplication Syndrome
Precocious puberty, Osteoporosis, Unilateral cryptorchidism ORPHA:447980
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hyperbilirubinemia, Hip contracture, Abnormal renal cortex morphology, Osteolysis involving bones... ORPHA:464321
Dent Disease
Renal phosphate wasting, Chronic kidney disease, Delayed epiphyseal ossification, Renal hypophosp... ORPHA:1652
Fried Syndrome
Aggressive behavior, Hydrocephalus ORPHA:85335
Axial Osteomalacia
Renal cyst, Elevated circulating creatine kinase concentration, Increased bone mineral density, O... OMIM:109130
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Nephrocalcinosis, Rickets, Failure to thrive, Distal renal tubular acidosis, Hypokalemia, Hyperca... OMIM:602722
Schaaf-Yang Syndrome
Hypogonadism, Failure to thrive in infancy, Obesity, Cryptorchidism, Camptodactyly, Micropenis, F... OMIM:615547
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Obesity, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism ORPHA:2183
Trisomy 5P
Hypoplasia of penis, Obesity, Renal hypoplasia/aplasia ORPHA:1742
Wilson-Turner Syndrome
Hypogonadotropic hypogonadism, Cryptorchidism, Truncal obesity ORPHA:3459
Laron Syndrome
Delayed puberty, Hypercholesterolemia, Osteoarthritis, Truncal obesity, Abnormality of the endocr... ORPHA:633
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Gout, Hyperlipidemia, H... OMIM:232220
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Type I diabetes mellitus, Insulin-resistant diabetes mellitus, Irregular tarsal ossification, Ren...