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Gene: Ncoa1 MGI:1276523

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Gene Summary

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

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating alkaline phosphatase level Ncoa1tm1.1(KOMP)Vlcg HOM Early adult 1.27×10-07
increased bone mineral content Ncoa1tm1.1(KOMP)Vlcg HOM Early adult 2.88×10-10
hyperactivity Ncoa1tm1.1(KOMP)Vlcg HOM Early adult 1.24×10-06
increased lean body mass Ncoa1tm1.1(KOMP)Vlcg HOM Early adult 1.50×10-05
abnormal brain morphology Ncoa1tm1.1(KOMP)Vlcg HOM Early adult 0.00
decreased total body fat amount Ncoa1tm1.1(KOMP)Vlcg HOM Early adult 2.95×10-05
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

Download data as:  TSV  XLS

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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  Section images heterozygote 100% (2 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Brown adipose tissue  Section images heterozygote 50% (1 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Colon  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Gonadal fat pad  Section images heterozygote 50% (1 of 2)
Harderian gland  Section images heterozygote 100% (2 of 2)
Ileum  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 50% (1 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Mesenteric adipose tissue  Section images heterozygote 50% (1 of 2)
Mesenteric lymph node  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Parotid gland  Section images heterozygote 100% (2 of 2)
Penis  Section images heterozygote 50% (1 of 2)
Pituitary gland  Section images heterozygote 50% (1 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Quadriceps  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 50% (1 of 2)
Spleen  Section images heterozygote 50% (1 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Sublingual gland  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thyroid gland  Section images heterozygote 50% (1 of 2)
Tongue  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Trigeminal V nerve  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vagina  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Vesicular gland  Section images heterozygote 50% (1 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
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Jejunum N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote Not available
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote 100% (2 of 2)
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Thymus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood 0.0%
bone marrow 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cecum 5.73% (22 of 384)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
chest bone Unavailable
colon 15.71% (22 of 140)
diaphragm 0.0%
duodenum 3.57% (5 of 140)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.71% (1 of 140)
heart 0.33% (2 of 598)
hindlimb 0.0%
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
ileum 14.29% (20 of 140)
jejunum 8.57% (12 of 140)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.31% (1 of 323)
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
stomach pyloric region 0.0%
striatum 0.5% (3 of 598)
sublingual gland 0.0%
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
tongue 3.57% (5 of 140)
trachea 0.5% (3 of 598)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vagina 0.0%
vas deferens 4.56% (18 of 395)
vascular system 0.0%
vesicular gland 0.0%
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

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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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
Osteopenia, Hypogonadotropic hypogonadism, Osteoporosis OMIM:615269
Medial Condensing Osteitis Of The Clavicle
Patchy reduction of bone mineral density, Elevated circulating C-reactive protein concentration, ... ORPHA:57196
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Delayed puberty, Female infertility, Primary amenorrhea, Osteopo... OMIM:300604
Xanthoma Disseminatum
Osteolysis, Diabetes insipidus ORPHA:158003
X-Linked Intellectual Disability, Van Esch Type
Absence of secondary sex characteristics, Coronal craniosynostosis, Type II diabetes mellitus, De... ORPHA:163976
Avascular Necrosis Of Femoral Head, Primary, 1
Generalized osteoporosis OMIM:608805
Hyaline Fibromatosis Syndrome
Flexion contracture, Progressive flexion contractures, Osteolysis, Failure to thrive, Osteopenia,... OMIM:228600
Familial Hyperprolactinemia
Female hypogonadism, Hemorrhagic ovarian cyst, Infertility, Osteopenia, Menorrhagia, Oligomenorrh... ORPHA:397685
Mu-Heavy Chain Disease
Weight loss, Osteolysis, Nephropathy, Bence Jones Proteinuria, Osteoporosis ORPHA:100024
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteoporosis, Delayed puberty, Osteopenia OMIM:615271
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Decreased testicular size, Diabetes mellitus, Osteoporosis, Absence of pubertal development, Cryp... OMIM:610628
Isolated Glycerol Kinase Deficiency
Elevated circulating creatine kinase concentration, Adrenocortical hypoplasia, Osteoporosis, Cryp... ORPHA:408
Hypergonadotropic Hypogonadism-Cataract Syndrome
Decreased fertility, Recurrent fractures, Absence of secondary sex characteristics, Increased cir... ORPHA:2410
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Gonadal dysgenesis, Osteoporosis, Primary amenorrhea OMIM:233300
X-Linked Intellectual Disability, Cilliers Type
Absence of secondary sex characteristics, Coronal craniosynostosis, Decreased testicular size, Ma... ORPHA:163971
Idiopathic Hypercalciuria
Abnormal circulating calcium concentration, Calcium oxalate nephrolithiasis, Parathormone-indepen... ORPHA:2197
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Hyperinsulinemia, Obesity, Tall stature OMIM:618406
Coronary Artery Disease, Autosomal Dominant 2
Type II diabetes mellitus, Gout, Increased LDL cholesterol concentration, Hypertriglyceridemia, O... OMIM:610947
Normosmic Congenital Hypogonadotropic Hypogonadism
Impotence, Camptodactyly, Primary amenorrhea, Hypoplasia of the uterus, Generalized joint laxity,... ORPHA:432
Immunodeficiency 12
Osteoporosis OMIM:615468
Extensor Tendons Of Finger Anomalies
Camptodactyly of finger, Osteoporosis, Limitation of joint mobility ORPHA:3294
Paget Disease Of Bone 4
Osteolysis OMIM:606263
Familial Expansile Osteolysis
Thin bony cortex, Pathologic fracture, Hydroxyprolinuria, Osteolysis OMIM:174810
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteoporosis, Delayed puberty, Osteopenia, Hypogonadism OMIM:615270
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Osteopenia, Absence of pubertal development, Osteoporosis, Hypogonadism OMIM:615267
Obesity Due To Congenital Leptin Deficiency
Primary amenorrhea, Hyperinsulinemia, Hypertriglyceridemia, Decreased serum estradiol, Absence of... ORPHA:66628
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Abnormal circulating corticosterone level, Primary amenorrhea, Hypoplasia of the uterus, Primary ... ORPHA:90796
Osteoporosis
Osteoporosis OMIM:166710
Winchester Syndrome
Generalized osteoporosis, Carpal osteolysis, Osteolysis involving tarsal bones OMIM:277950
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Joint laxity, Hyperinsulinemic hypoglycemia, Diabetes mellitus, Delayed puberty, Primary amenorrh... OMIM:616033
Obesity Due To Leptin Receptor Gene Deficiency
Primary amenorrhea, Hyperinsulinemia, Hypertriglyceridemia, Decreased serum estradiol, Absence of... ORPHA:179494
Forsythe-Wakeling Syndrome
Decreased body weight, Osteoporosis, Nephrotic syndrome OMIM:613606
Chromosome Xq27.3-Q28 Duplication Syndrome
Hypogonadism, Decreased testicular size, Small for gestational age, Decreased serum testosterone ... OMIM:300869
46,Xy Partial Gonadal Dysgenesis
Ambiguous genitalia, Gonadoblastoma, Adrenal insufficiency, Increased circulating gonadotropin le... ORPHA:251510
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... OMIM:615954
Hyperostosis Frontalis Interna
Irregular menstruation, Increased circulating prolactin concentration, Hyperostosis frontalis int... OMIM:144800
Hemochromatosis Type 2
Abnormality of endocrine pancreas physiology, Impotence, Hypogonadism, Abnormality of iron homeos... ORPHA:79230
Familial Isolated Hyperparathyroidism
Primary hyperparathyroidism, Parathyroid adenoma, Hyperphosphaturia, Hypophosphatemia, Elevated c... ORPHA:99879
Osteoporosis, Juvenile
Osteoporosis OMIM:259750
Hereditary Sensory And Autonomic Neuropathy Type 2
Osteolysis, Foot acroosteolysis, Abnormal cortical bone morphology, Reduced bone mineral density ORPHA:970
Ramon Syndrome
Osteolysis, Failure to thrive, Diabetes mellitus ORPHA:3019
Bdv Syndrome
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin... OMIM:619326
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Ambiguous genitalia,... ORPHA:90791
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... ORPHA:171706
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Decreased testicular size, Small pituitary gland, Osteoporosis, Osteopenia, Cryptorchidism, Prima... OMIM:614880
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight, Maturity-onset diabetes of the young OMIM:613375
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Primary amenorrhea, Decreased serum estradiol, Decreased testicular size, Decreased circulating g... OMIM:614841
Perrault Syndrome 4
Decreased serum estradiol, Bicornuate uterus, Premature ovarian insufficiency, Secondary amenorrh... OMIM:615300
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s... OMIM:616030
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... ORPHA:90793
Bardet-Biedl Syndrome 11
Abnormality of the kidney, Obesity, Hypogonadism OMIM:615988
Pituicytoma
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... ORPHA:251623
Estrogen Resistance Syndrome
Primary amenorrhea, Hyperinsulinemia, Enlarged polycystic ovaries, Absence of secondary sex chara... ORPHA:785
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia, Gonadal dysgenesis, Neural tube defect OMIM:615041
Symptomatic Form Of Hemochromatosis Type 1
Hypothyroidism, Abnormality of iron homeostasis, Weight loss, Stiff interphalangeal joints, Arthr... ORPHA:465508
Isolated Follicle Stimulating Hormone Deficiency
Female hypogonadism, Primary amenorrhea, Gonadotropin deficiency, Decreased serum estradiol, Decr... ORPHA:52901
Keratoderma Hereditarium Mutilans
Hypogonadotropic hypogonadism, Osteolysis ORPHA:494
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Cachexia, Limitation of joint mobility, Metacarpal osteolysis, Osteolysi... ORPHA:2774
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Aminoaciduria, Osteoporosis OMIM:204730
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Primary amenorrhea, Abnormal internal genitalia, Aplasia of the uterus,... OMIM:273250
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Decreased fertility, Recurrent fractures, Absence of secondary sex characteristics, Anterior hypo... ORPHA:2235
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased serum testosterone level, Increased circulating cortisol level, Decreased circulating d... OMIM:610489
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Renal phosphate wasting, Increased susceptibility to fractures, Hyperphosphaturia, Hypophosphatem... OMIM:612286
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Osteoporosis, Joint hyperflexibility ORPHA:2787
Autosomal Recessive Distal Osteolysis Syndrome
Osteolysis ORPHA:2776
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Juvenile Hyaline Fibromatosis
Progressive flexion contractures, Osteolysis, Joint stiffness ORPHA:2028
Rothmund-Thomson Syndrome, Type 1
Male hypogonadism, Hypothyroidism, Osteoporosis, Premature ovarian insufficiency OMIM:618625
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Renal phosphate wasting, Increased susceptibility to fractures, Hyperphosphaturia, Hypophosphatem... OMIM:612287
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Abnormal spermatogenesis, Decreased circulating dihydrotestosterone co... OMIM:228300
49,Xyyyy Syndrome
Primary gonadal insufficiency, Generalized joint laxity, Abnormality of the testis size, External... ORPHA:99330
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Abnormality of the kidney, Failure to thrive, Delayed puberty, Osteopenia, Hyperlipidemia, Protei... ORPHA:369
Leydig Cell Hypoplasia
Ambiguous genitalia, Breast aplasia, Increased circulating gonadotropin level, Primary amenorrhea... ORPHA:755
Prader-Willi syndrome (Type 1)
Hypogonadism, Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Hypogonadism, Truncal obesity DECIPHER:53
49,Xxxyy Syndrome
Primary gonadal insufficiency, Ambiguous genitalia, Abnormality of the testis size, External geni... ORPHA:261534
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Hypo... OMIM:308700
Bardet-Biedl Syndrome 10
Renal cyst, Renal insufficiency, Obesity, Hypogonadism OMIM:615987
Glycerol Kinase Deficiency
Hypertriglyceridemia, Adrenal insufficiency, Small for gestational age, Adrenocortical hypoplasia... OMIM:307030
Spinocerebellar Ataxia 32
Cognitive impairment, Infertility, Azoospermia, Ataxia, Testicular atrophy, Cerebellar atrophy OMIM:613909
Osteopenia And Sparse Hair
Osteopenia, Joint laxity OMIM:259690
Spermatogenic Failure 28
Decreased testicular size, Non-obstructive azoospermia, Male infertility, Elevated circulating lu... OMIM:618086
Ovarian Dysgenesis 8
Hypoplastic labia majora, Eunuchoid habitus, Elevated circulating luteinizing hormone level, Prim... OMIM:618187
Hypocalcemic Vitamin D-Resistant Rickets
Recurrent fractures, Osteomalacia, Hypophosphatemia, Coarse metaphyseal trabecularization, Osteol... ORPHA:93160
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s... OMIM:614897
Ollier Disease
Osteolysis, Joint stiffness, Precocious puberty ORPHA:296
Spinocerebellar Ataxia Type 32
Cognitive impairment, Azoospermia, Testicular atrophy, Male infertility, Cerebellar atrophy, Prog... ORPHA:276183
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Congenital hypothyroidism, Obesity, Craniosynostosis, Hypoalbuminemia ORPHA:88643
Hypogonadotropic Hypogonadism 25 With Anosmia
Primary amenorrhea, Decreased serum estradiol, Hypothalamic gonadotropin-releasing hormone defici... OMIM:618841
Pseudohypoparathyroidism, Type Ic
Hypothyroidism, Hypocalcemic tetany, Hyperphosphatemia, Low urinary cyclic AMP response to PTH ad... OMIM:612462
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Primary amenorrhea, Gonadoblastoma, Abnormality of female external genitalia, Decreased serum est... ORPHA:168563
Rosaï-Dorfman Disease
Osteolysis ORPHA:158014
Congenital Disorder Of Glycosylation, Type Iik
Hemolytic-uremic syndrome, Joint laxity, Elevated circulating creatine kinase concentration, Fail... OMIM:614727
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Joint stiffness, Obesity ORPHA:1078
Syndromic X-Linked Intellectual Disability 7
Hypogonadism, Hypoplasia of penis, Cryptorchidism, Obesity, Micropenis ORPHA:85274
Gorham-Stout Disease
Osteomyelitis, Abnormal bone ossification, Osteolysis involving bones of the upper limbs, Osteoly... ORPHA:73
Leptin Deficiency Or Dysfunction
Hypogonadism, Decreased testicular size, Decreased serum leptin, Primary amenorrhea, Obesity, Mic... OMIM:614962
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Impotence, Small pituitary gland, Increased circulating gonadotropin level, Primary amenorrhea, P... ORPHA:2232
Pseudohypoparathyroidism, Type Ia
Hypothyroidism, Hypocalcemic tetany, Hyperphosphatemia, Low urinary cyclic AMP response to PTH ad... OMIM:103580
Morgagni-Stewart-Morel Syndrome
Hypothyroidism, Hyperuricemia, Hyperostosis frontalis interna, Obesity, Diabetes mellitus, Abnorm... ORPHA:77296
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Hypogonadotropic hypogonadism, Micropenis, Osteoporosis, Decreased testicular size OMIM:614838
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Abnormal urine potassium concentration, Adrenocorticotropic hormone excess, Decreased circulating... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Abnormal urine potassium concentration, Adrenocorticotropic hormone excess, Decreased circulating... ORPHA:289548
Maffucci Syndrome
Recurrent fractures, Neoplasm of the parathyroid gland, Parathyroid adenoma, Neoplasm of the adre... ORPHA:163634
Flynn-Aird Syndrome
Increased bone density with cystic changes, Increased bone mineral density, Joint stiffness, Oste... OMIM:136300
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia
Hypogonadotropic hypogonadism, Osteopenia OMIM:615266
Summitt Syndrome
Obesity, Craniosynostosis OMIM:272350
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Increased susceptibility to fractures, Premature thelarche, Arthritis, Nodular goiter, Osteolysis... ORPHA:371428
Paget Disease Of Bone 3
Osteolysis, Patchy osteosclerosis, Fractures of the long bones OMIM:167250
Delayed Puberty, Self-Limited
Decreased circulating follicle stimulating hormone concentration, Delayed puberty, Decreased seru... OMIM:619613
Pigmented Nodular Adrenocortical Disease, Primary, 2
Increased circulating cortisol level, Decreased circulating ACTH level, Pigmented micronodular ad... OMIM:610475
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Diabetes mellitus, Ectopic ossification OMIM:602475
Progeria-Short Stature-Pigmented Nevi Syndrome
Multiple joint contractures, Decreased serum estradiol, Premature ovarian insufficiency, Small fo... ORPHA:2959
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Adrenal hyperplasia, Diabetes mellitus, Primary hypercortis... OMIM:615830
Bardet-Biedl Syndrome 5
External genital hypoplasia, Obesity, Micropenis, Hypogonadism OMIM:615983
Aromatase Deficiency
Enlarged polycystic ovaries, Ambiguous genitalia, female, Type II diabetes mellitus, Eunuchoid ha... ORPHA:91
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Delayed puberty, Decreased serum insulin-like growth factor 1, Truncal obesity ORPHA:140941
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Recurrent fractures, Hypogonadism, Hypoplasia of penis, Abnormality of t... ORPHA:3409
Osteosarcoma
Osteolysis, Pathologic fracture, Weight loss ORPHA:668
Spermatogenic Failure, X-Linked, 1
Sertoli cell-only phenotype, Obesity OMIM:305700
Perrault Syndrome 1
Increased circulating gonadotropin level, Gonadal dysgenesis, Osteoporosis, Primary amenorrhea OMIM:233400
Functioning Gonadotropic Adenoma
Impotence, Anterior hypopituitarism, Decreased female libido, Increased circulating gonadotropin ... ORPHA:91348
Diabetes Insipidus, Neurohypophyseal
Central diabetes insipidus, Decreased circulating osteocalcin level, Osteopenia OMIM:125700
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Attention deficit hyperactivity disorder, Ventriculomegaly OMIM:618709
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Osteoporosis, Cryptorchidism ORPHA:2958
Pseudopseudohypoparathyroidism
Obesity, Pseudohypoparathyroidism, Osteoporosis OMIM:612463
Senior-Loken Syndrome 9
Tubulointerstitial nephritis, Hypogonadism, Stage 5 chronic kidney disease, Osteopenia, Nephronop... OMIM:616629
Woodhouse-Sakati Syndrome
Hypothyroidism, Hyperinsulinemia, Abnormal spermatogenesis, Decreased response to growth hormone ... ORPHA:3464
Pseudopseudohypoparathyroidism
Hyperphosphatemia, Ectopic ossification, Obesity, Elevated circulating parathyroid hormone level,... ORPHA:79445
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... OMIM:219080
Bardet-Biedl Syndrome 16
Hypogonadism, Renal dysplasia, Stage 5 chronic kidney disease, External genital hypoplasia, Renal... OMIM:615993
Tenosynovial Giant Cell Tumor
Osteolysis, Joint stiffness, Localized osteoporosis, Limitation of joint mobility ORPHA:66627
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypercho... OMIM:616000
Hydrocephalus, Autosomal Dominant
Sagittal craniosynostosis, Hydrocephalus, Dandy-Walker malformation OMIM:123155
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Ane Syndrome
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Multiple jo... ORPHA:157954
Fanconi Renotubular Syndrome 2
Renal phosphate wasting, Proximal tubulopathy, Recurrent fractures, Osteomalacia, Glycosuria, Hyp... OMIM:613388
Prieto Syndrome
Osteoporosis, Cryptorchidism OMIM:309610
Schizophrenia 15
Hyperactivity OMIM:613950
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity, Finger joint hypermobility ORPHA:436141
Spermatogenic Failure, X-Linked, 4
Azoospermia, Abnormal prolactin level, Male infertility, Elevated circulating luteinizing hormone... OMIM:301077
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Irregular menstruation, Increased susceptibility to fractures, Hyperaldosteronism, Increased circ... ORPHA:189427
Short Stature, Dauber-Argente Type
Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h... OMIM:619489
Autosomal Recessive Spastic Paraplegia Type 26
Abnormality of the urinary system, Premature ovarian insufficiency, Decreased serum testosterone ... ORPHA:101006
Coronary Artery Disease, Autosomal Dominant, 1
Diabetes mellitus, Obesity, Hypercholesterolemia OMIM:608320
Desmoid Tumor
Osteolysis, Abnormality of the upper urinary tract, Limitation of joint mobility, Hydronephrosis ORPHA:873
Infantile Myofibromatosis
Abnormality of the kidney, Neoplasm of the pancreas, Limitation of joint mobility, Osteolysis, Hy... ORPHA:2591
Gnathodiaphyseal Dysplasia
Thickened cortex of long bones, Osteopenia, Mandibular osteomyelitis, Recurrent fractures ORPHA:53697
Rhyns Syndrome
Decreased response to growth hormone stimulation test, Anterior hypopituitarism, Reduced circulat... OMIM:602152
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation, Elevated circulating creatine kinase concentration OMIM:607091
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Increased susceptibility to fractures, Urinary bladder sphincter dysfunction, Elevated circulatin... ORPHA:52430
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Osteomyelitis, Weight loss, Arthritis, Osteolysis, Craniofacial osteosclerosis, Hyperostosis, Ele... ORPHA:324964
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Epiphyseal Chondrodysplasia, Miura Type
Tall stature, Abnormal circulating beta-C-terminal telopeptide concentration, Osteopenia, Increas... OMIM:615923
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating beta-C-terminal telopeptide concentration, Osteomalacia, Hyperphosphaturia,... ORPHA:157215
Hemochromatosis, Type 1
Increased serum iron, Impotence, Azoospermia, Testicular atrophy, Diabetes mellitus, Increased ci... OMIM:235200
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Osteoporosis ORPHA:2786
Paget Disease Of Bone 2, Early-Onset
Increased susceptibility to fractures, Hydroxyprolinuria, Osteolysis, Osteosclerosis of the ulna,... OMIM:602080
Fibrous Dysplasia Of Bone
Thin bony cortex, Hyperpituitarism, Osteolysis, Testicular neoplasm, Ovarian cyst, Fibrous dyspla... ORPHA:249
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Anterio... ORPHA:453533
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased serum testosterone co... OMIM:614839
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation, Orbital craniosynostosis ORPHA:1538
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Abnormal circul... OMIM:616950
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Proximal tubulopathy, Type I diabetes mellitus, Rickets, Failure to thrive, Polyuria, Osteoporosis OMIM:560000
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteomyelitis, Fused cervical vertebrae, Osteolysis, Periostitis, Osteopenia, Elevated circulatin... OMIM:612852
Aarskog-Scott Syndrome
Hyperextensibility of the finger joints, Shawl scrotum, Bilateral cryptorchidism, Joint laxity, T... OMIM:305400
Bardet-Biedl Syndrome 18
Stage 5 chronic kidney disease, Renal insufficiency, Obesity OMIM:615995
Hutchinson-Gilford Progeria Syndrome
Osteolysis, Generalized osteoporosis OMIM:176670
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Childhood-onset truncal obesity, Type II diabetes mellitus, Obesity, Hypertrigl... ORPHA:71529
Sim1-Related Prader-Willi-Like Syndrome
Central hypothyroidism, Precocious puberty, Small pituitary gland, Primary amenorrhea, Abdominal ... ORPHA:398079
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Type II diabetes mellitus, Infertility, Azoospermia, Oligospermia, Increase... OMIM:615703
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Osteoporosis OMIM:619971
Primary Pigmented Nodular Adrenocortical Disease
Irregular menstruation, Increased susceptibility to fractures, Increased circulating cortisol lev... ORPHA:189439
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Warburg Micro Syndrome 1
External genital hypoplasia, Joint hypermobility, Failure to thrive, Cryptorchidism, Osteoporosis OMIM:600118
Spermatogenic Failure 2
Azoospermia, Non-obstructive azoospermia, Oligospermia, Male infertility, Abnormal circulating te... OMIM:108420
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Camptodactyly of finger, Hypogonadotropic hypogonadism, Osteoporosis ORPHA:48431
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Xq27.3Q28 Duplication Syndrome
Hypogonadism, Premature ovarian insufficiency, Decreased testicular size, Failure to thrive, Trun... ORPHA:261483
Nestor-Guillermo Progeria Syndrome
Flexion contracture, Limited elbow movement, Osteolysis, Decreased serum leptin, Failure to thriv... OMIM:614008
Classic Hodgkin Lymphoma
Osteolysis, Weight loss ORPHA:391
Bardet-Biedl Syndrome 14
Renal insufficiency, Obesity OMIM:615991
Adenohypophysitis
Hyposthenuria, Increased circulating prolactin concentration, Gonadotropin deficiency, Decreased ... ORPHA:95512
Gaucher Disease Type 1
Increased bone mineral density, Hematuria, Osteolysis, Delayed puberty, Osteopenia, Proteinuria, ... ORPHA:77259
Hypercholanemia, Familial, 2
Unconjugated hyperbilirubinemia, Increased serum bile acid concentration, Osteopenia OMIM:619256
Edinburgh Malformation Syndrome
Failure to thrive, Neonatal hyperbilirubinemia, Hydrocephalus OMIM:129850
Congenital Bile Acid Synthesis Defect Type 1
Failure to thrive, Osteoporosis ORPHA:79301
Post-Traumatic Pituitary Deficiency
Decreased response to growth hormone stimulation test, Osteoporosis of vertebrae, Decreased circu... ORPHA:95619
Mccune-Albright Syndrome
Precocious puberty, Abnormal testis morphology, Hyperphosphaturia, Hyperplasia of the Leydig cell... ORPHA:562
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Azoo... OMIM:614837
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Elevated circulating pa... OMIM:603233
Mitochondrial Complex I Deficiency, Nuclear Type 11
Failure to thrive, Osteoporosis OMIM:618234
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, Gonadoblastoma, Abnormal spermatogenesis, Ambiguou... ORPHA:261529
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Elevated circulating thyroid-stimulating hormone concentration, Small for gestational age, Type I... OMIM:274300
Panhypophysitis
Gonadotropin deficiency, Impotence, Decreased female libido, Decreased circulating cortisol level... ORPHA:95513
Bardet-Biedl Syndrome 4
Hypogonadism, External genital hypoplasia, Abnormality of the kidney, Renal cyst, Cryptorchidism,... OMIM:615982
Premature Aging Syndrome, Okamoto Type
Diabetes mellitus, Osteoporosis OMIM:601811
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno... ORPHA:98754
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Precocious puberty, Flexion contracture, Decreased te... OMIM:616222
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Osteogenesis Imperfecta, Type Xxii
Abnormal circulating calcium concentration, Thin bony cortex, Recurrent fractures, Decreased circ... OMIM:619795
Spermatogenic Failure 77
Azoospermia, Oligospermia, Male infertility, Abnormal circulating testosterone concentration, Abn... OMIM:620103
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Aplasia/Hypoplasia of the testes, Hypoplasia of penis, Obesity, Cryptorchidism ORPHA:3055
Pineocytoma
Hydrocephalus, Increased CSF protein concentration ORPHA:251912
46,Xx Gonadal Dysgenesis
Decreased fertility, Ambiguous genitalia, Decreased serum estradiol, Secondary amenorrhea, Osteop... ORPHA:243
Hyperparathyroidism 4
Hypercalcemia, Osteopenia, Primary hyperparathyroidism, Nephrolithiasis, Parathyroid carcinoma OMIM:617343
Classic Galactosemia
Decreased fertility in females, Secondary amenorrhea, Premature ovarian insufficiency, Oligomenor... ORPHA:79239
Kallmann Syndrome With Spastic Paraplegia
Decreased circulating follicle stimulating hormone concentration, Hypothalamic gonadotropin-relea... OMIM:308750
Osteoporosis-Pseudoglioma Syndrome
Increased susceptibility to fractures, Isosexual precocious puberty, Joint laxity, Osteopenia, Os... ORPHA:2788
Pituitary Adenoma 4, Acth-Secreting
Increased circulating ACTH level, Hypokalemia, Pituitary adenoma, Oligomenorrhea, Abdominal obesi... OMIM:219090
Spastic Paraplegia 26, Autosomal Recessive
Urinary urgency, Decreased serum testosterone concentration OMIM:609195
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity, Cryptorchidism OMIM:309585
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno... ORPHA:98793
Juvenile Paget Disease
Hyperuricemia, Recurrent fractures, Coarse metaphyseal trabecularization, Cranial hyperostosis, O... ORPHA:2801
Frank-Ter Haar Syndrome
Camptodactyly of finger, Osteolysis, Joint stiffness ORPHA:137834
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Male hypogonadism, Diabetes mellitus, Cryptorchidism, Hypertriglyceridemia, Joint contracture, Os... OMIM:615381
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypogonadism, Small for gestational age, Failure to thrive, Neonatal hyperbilirubinemia, Truncal ... ORPHA:73272
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Small for gestational age, Delayed ossification of carpal bones, Decreased body weight, Reduced b... OMIM:618392
Prolactinoma
Impotence, Anterior hypopituitarism, Decreased female libido, Secondary growth hormone deficiency... ORPHA:2965
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno... ORPHA:177901
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia, Diabetes insipidus, Hypogonadism, Type II diabetes mellitus, Hypoplasia of ... ORPHA:181393
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Ambiguous genitalia, Premature thelarche, Precocious puberty, Ambiguous genitalia, female, Decrea... ORPHA:90795
Vitamin D-Dependent Rickets, Type 3
Elevated circulating parathyroid hormone level, Hypophosphatemia, Hypocalcemia, Osteopenia OMIM:619073
Paget Disease Of Bone 5, Juvenile-Onset
Hyperphosphatemia, Hyperuricemia, Recurrent fractures, Increased bone mineral density, Ankylosis,... OMIM:239000
1Q21.1 Microduplication Syndrome
Failure to thrive, Hydrocephalus, Attention deficit hyperactivity disorder, Arthrogryposis multip... ORPHA:250994
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Truncal obesity OMIM:240900
Obesity Due To Prohormone Convertase I Deficiency
Hyperinsulinemia, Childhood-onset truncal obesity, Decreased response to growth hormone stimulati... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hyperinsulinemia, Childhood-onset truncal obesity, Decreased response to growth hormone stimulati... ORPHA:71526
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hypermethioninemia, Methioninuria, Hyperhomocystinemia, Limitation of joint mobility, Disproporti... OMIM:236200
Dermatoosteolysis, Kirghizian Type
Osteolysis, Tarsal synostosis, Osteoarthritis ORPHA:1657
Camurati-Engelmann Disease, Type 2
Knee flexion contracture, Hip contracture, Hypogonadism, Disproportionate tall stature, Delayed p... OMIM:606631
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Osteoporosis ORPHA:71267
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Multiple Endocrine Neoplasia Type 1
Pituitary thyrotropic cell adenoma, Pituitary corticotropic cell adenoma, Impotence, Neoplasm of ... ORPHA:652
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Decreased response to growth hormone stimulation test, Hypospadias, Osteopenia, Hypercalcemia, Cr... OMIM:614732
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocalcinosis, Reduced r... OMIM:611555
Central Precocious Puberty
Isosexual precocious puberty, Premature thelarche, Overgrowth, Increased circulating gonadotropin... ORPHA:759
Richards-Rundle Syndrome
Ketonuria, Joint stiffness, Hypergonadotropic hypogonadism, Reduced bone mineral density ORPHA:1399
Sialidosis Type 2
Nephropathy, Flexion contracture, Osteoporosis ORPHA:87876
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Small for gestational age, Failure to thrive, Osteopenia, Slender build ORPHA:50811
Mehmo Syndrome
External genital hypoplasia, Hypoplasia of penis, Diabetes mellitus, Cryptorchidism, Obesity, Mic... ORPHA:85282
Diffuse Cutaneous Systemic Sclerosis
Flexion contracture, Arthritis, Osteolysis, Dyspareunia, Oliguria, Renal insufficiency ORPHA:220393
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Prader-Willi-Like Syndrome
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno... ORPHA:398073
Biemond Syndrome Type 2
Hypogonadism, Delayed puberty, Hypospadias, Hypogonadotropic hypogonadism, Obesity ORPHA:141333
H Syndrome
Recurrent fractures, Hypogonadism, Decreased testicular size, Abnormality of the kidney, Enlarged... ORPHA:168569
Testicular Agenesis
Urogenital sinus anomaly, Ambiguous genitalia, Absent external genitalia, Urethrovaginal fistula,... ORPHA:325124
Kallmann Syndrome
Decreased fertility, Recurrent fractures, Abnormal morphology of female internal genitalia, Anter... ORPHA:478
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypothyroidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Increased circu... ORPHA:1772
Mandibuloacral Dysplasia With Type B Lipodystrophy
Acroosteolysis of distal phalanges (feet), Calcinosis, Osteolysis, Delayed puberty, Osteolytic de... ORPHA:90154
Bruck Syndrome 1
Knee flexion contracture, Increased susceptibility to fractures, Hip contracture, Elbow flexion c... OMIM:259450
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Decreased body weight, Hyperinsulinemic hypoglycemia, A... ORPHA:2298
Chondroectodermal Dysplasia With Night Blindness
Osteoporosis, Osteopenia, Fractures of the long bones ORPHA:319195
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Joint hypermobility, Hypospadias, Delayed puberty, Micropenis, Osteopenia, Bicoronal synostosis, ... OMIM:619718
Beta-Thalassemia Intermedia
Increased susceptibility to fractures, Proximal tubulopathy, Hypothyroidism, Abnormality of iron ... ORPHA:231222
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
African Iron Overload
Abnormal thyroid morphology, Increased circulating cortisol level, Abnormality of adrenal morphol... ORPHA:139507
Felty Syndrome
Weight loss, Recurrent urinary tract infections, Arthritis, Synovitis, Limitation of joint mobili... ORPHA:47612
Bardet-Biedl Syndrome 19
Hypogonadism, External genital hypoplasia, Renal hypoplasia, Renal insufficiency, Obesity, Hydron... OMIM:615996
Xp21 Deletion Syndrome
Adrenal insufficiency, Joint laxity, Primary adrenal insufficiency, Elevated circulating creatine... ORPHA:261476
Hall-Riggs Mental Retardation Syndrome
Failure to thrive, Osteoporosis OMIM:234250
Complete Androgen Insensitivity Syndrome
Increased serum estradiol, Primary amenorrhea, Increased serum testosterone level, Bilateral cryp... ORPHA:99429
Werner Syndrome
Hypogonadism, Diabetes mellitus, Elevated hemoglobin A1c, Hypertriglyceridemia, Osteoporosis, Red... OMIM:277700
Prader-Willi Syndrome
Central hypothyroidism, Precocious puberty, Hypoplastic labia majora, Small pituitary gland, Prim... ORPHA:739
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Delayed ossification of carpal bones, Reduced bone mineral density OMIM:617974
Aggressive Systemic Mastocytosis
Osteolysis, Pathologic fracture, Osteoporosis, Weight loss ORPHA:98850
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Maturity-onset diabetes of the young, Joint hypermobility, Hypercholesterolem... ORPHA:254531
Idiopathic Juvenile Osteoporosis
Osteoporosis, Recurrent fractures ORPHA:85193
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Decreased testicular size, Type I diabetes mellitus, Breast aplasia, Eunuchoid habitus, Elevated ... ORPHA:3044
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Decreased fertility, Hypogonadism, Decreased testicular size, Type II diabetes mellitus, Hypoplas... ORPHA:2234
Nasu-Hakola Disease
Ventriculomegaly, Hydrocephalus, Bone cyst, Disinhibition, Abnormal adipose tissue morphology, Re... ORPHA:2770
Cerebrooculofacioskeletal Syndrome 1
Knee flexion contracture, Flexion contracture, Joint contracture of the hand, Small for gestation... OMIM:214150
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Glycosuria, Hyperphosphaturia, Hypophosphatemia, Large for gestational age, Ricket... OMIM:616026
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Secondary amenorrhea, Decreased testicular size, Type II diabetes mellitus, Pol... ORPHA:3085
Erdheim-Chester Disease
Diabetes insipidus, Osteomyelitis, Weight loss, Dysuria, Increased bone mineral density, Osteolys... ORPHA:35687
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity, Osteoarthritis ORPHA:2206
Hernández-Aguirre Negrete Syndrome
Delayed puberty, Obesity ORPHA:2139
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Increased serum leptin, Obesity, Hyperlipidemia, Hypertriglyceridemia OMIM:617885
Epilepsy, Pyridoxine-Dependent
Hydrocephalus, Elevated circulating alpha-aminoadipic semialdehyde concentration OMIM:266100
Hypogonadotropic Hypogonadism 27 Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Reduced response to gonadotropi... OMIM:619755
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Hydrocephalus, Elbow flexion contracture OMIM:619470
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hypogonadism, Decreased testicular size, Failure to thrive, Decreased serum testosterone concentr... OMIM:201100
Hypogonadism, Male
Male hypogonadism, Testicular atrophy, Hypospadias, Micropenis OMIM:241100
46,Xx Sex Reversal 2
Sex reversal, Bifid scrotum, Perineal hypospadias, Hypoplasia of the vagina, True hermaphroditism... OMIM:278850
Retinitis Pigmentosa
Hyperinsulinemia, Hypogonadism, Abnormal testis morphology, Type II diabetes mellitus, Hypoplasia... ORPHA:791
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Infantile Systemic Hyalinosis
Camptodactyly of finger, Increased susceptibility to fractures, Recurrent fractures, Osteomalacia... ORPHA:2176
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche OMIM:614662
Pachydermoperiostosis
Osteomyelitis, Arthritis, Abnormal cortical bone morphology, Limitation of joint mobility, Osteol... ORPHA:2796
Mody
Pancreatic hypoplasia, Transient neonatal diabetes mellitus, Glycosuria, Abnormality of the kidne... ORPHA:552
Parathyroid Carcinoma
Nephroblastoma, Primary hyperparathyroidism, Pancreatic adenocarcinoma, Uterine leiomyoma, Thyroi... ORPHA:143
Magel2-Related Prader-Willi-Like Syndrome
Central hypothyroidism, Flexion contracture, Precocious puberty, Small pituitary gland, Primary a... ORPHA:398069
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Osteoporosis, Recurrent fractures OMIM:126550
Acrodysostosis 2 With Or Without Hormone Resistance
Advanced ossification of carpal bones, Diabetes mellitus, Hypospadias, Cryptorchidism, Congenital... OMIM:614613
Ruijs-Aalfs Syndrome
Elbow flexion contracture, Decreased body weight, Osteoporosis, Hypogonadism OMIM:616200
Hyperzincemia With Functional Zinc Depletion
Osteoporosis, Increased serum zinc OMIM:601979
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Obesity, Hyperlipidemia ORPHA:329249
Kleeblattschaedel
Hydrocephalus, Craniosynostosis OMIM:148800
Polyembryoma
Irregular menstruation, Isosexual precocious puberty, Macroorchidism, Increased serum testosteron... ORPHA:180229
Spermatogenic Failure 14
Azoospermia, Late spermatogenesis maturation arrest, Abnormal prolactin level, Male infertility, ... OMIM:615842
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Irregular menstruation, Hyperphosphatemia, Precocious puberty, Hyperthyroidism, Recurrent fractur... ORPHA:457059
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Irregular menstruation, Hypercholesterolemia, Hypertriglyceridemia, Renal tubular acidosis, Eleva... ORPHA:264580
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Ambiguous genitalia, Decreased circulating aldosterone level, Ambiguous genitalia, female, Decrea... ORPHA:90794
Osteogenesis Imperfecta, Type Xii
Osteoporosis, Generalized osteoporosis, Recurrent fractures, Hyperextensibility of the finger joints OMIM:613849
Narcolepsy Type 1
Obesity ORPHA:2073
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Ambiguous genitalia, Flexion contracture, Decreased circulating dehydroepiandrosterone-sulfate co... ORPHA:95699
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Peroxisome Biogenesis Disorder 3B
Hypocholesterolemia, Failure to thrive, Osteoporosis, Elevated circulating phytanic acid concentr... OMIM:266510
Chudley-Mccullough Syndrome
Hydrocephalus, Ventriculomegaly OMIM:604213
Mandibuloacral Dysplasia With Type A Lipodystrophy
Flexion contracture, Acroosteolysis of distal phalanges (feet), Breast aplasia, Limitation of joi... ORPHA:90153
Thymic Neuroendocrine Tumor
Increased circulating prolactin concentration, Neoplasm of the thymus, Neoplasm of the endocrine ... ORPHA:97289
Estrogen Resistance
Increased serum estradiol, Hyperinsulinemia, Breast aplasia, Delayed puberty, Polycystic ovaries,... OMIM:615363
Borjeson-Forssman-Lehmann Syndrome
Delayed puberty, Micropenis, Cryptorchidism, Obesity, Hypoplasia of the prostate OMIM:301900
Laurence-Moon Syndrome
Type II diabetes mellitus, Hypoplasia of penis, Cryptorchidism, Renal insufficiency, Obesity, Dis... ORPHA:2377
Neural Tube Defects, Susceptibility To
Multiple lipomas, Myelomeningocele, Anencephaly, Hydrocephalus, Spina bifida occulta, Lipoma OMIM:182940
Adrenocortical Carcinoma
Increased serum estradiol, Hyperaldosteronism, Increased circulating cortisol level, Adrenocortic... ORPHA:1501
Bardet-Biedl Syndrome 8
Hypospadias, Obesity, Hypogonadism, Renal dysplasia OMIM:615985
Propionic Acidemia
Hyperglycinemia, Failure to thrive, Increased level of hippuric acid in urine, Hyperammonemia, Os... OMIM:606054
Distal 7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Hydrocephalus, Attention deficit hyperactivity disorder, Frontal... ORPHA:261102
Hyperparathyroidism-Jaw Tumor Syndrome
Nephroblastoma, Primary hyperparathyroidism, Pancreatic adenocarcinoma, Uterine leiomyoma, Parath... ORPHA:99880
Bardet-Biedl Syndrome 2
External genital hypoplasia, Diabetes mellitus, Obesity, Hypogonadism OMIM:615981
Adrenomyodystrophy
Primary adrenal insufficiency, Failure to thrive, Megacystis, Abnormality of the urinary system, ... ORPHA:977
Bruck Syndrome
Osteoporosis, Joint stiffness, Recurrent fractures, Arthrogryposis multiplex congenita ORPHA:2771
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Camptodactyly, Osteoporosis OMIM:616006
Mehmo Syndrome
Decreased response to growth hormone stimulation test, Small for gestational age, Male hypogonadi... OMIM:300148
Macrosomia Adiposa Congenita
Obesity, Large for gestational age, Adrenocortical adenoma OMIM:248100
Kallmann Syndrome-Heart Disease Syndrome
Decreased testicular size, Bilateral cryptorchidism, Renal agenesis, Osteoporosis, Delayed pubert... ORPHA:2326
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Thin bony cortex, Generalized bone demineralization, Rickets of the lower limbs, Sparse bone trab... OMIM:600785
Cranioectodermal Dysplasia
Osteoporosis, Craniosynostosis, Joint hyperflexibility ORPHA:1515
Osteogenesis Imperfecta, Type Xiii
Enuresis nocturna, Recurrent fractures, Decreased body weight, Increased bone mineral density, Jo... OMIM:614856
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Metacarpal periosteal thickening, Calvarial osteosclerosis, Parathyroid hyperp... OMIM:617994
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus OMIM:166990
Progressive Familial Intrahepatic Cholestasis
Failure to thrive, Hypocalcemia, Reduced bone mineral density ORPHA:172
47,Xyy Syndrome
Macroorchidism, Cerebellar dysplasia, Increased serum testosterone level, Dysgenesis of the cereb... ORPHA:8
Summitt Syndrome
Camptodactyly of finger, Obesity, Craniosynostosis, Tall stature ORPHA:3210
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia, Precocious puberty, Small for gestational age, Maturity-onset diabetes of t... ORPHA:96184
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Irregular menstruation, Hypercholesterolemia, Hypertriglyceridemia, Renal tubular acidosis, Eleva... ORPHA:79240
Bardet-Biedl Syndrome 22
Obesity, Large for gestational age, Hypogonadism OMIM:617119
Gonadoblastoma
Ambiguous genitalia, Increased serum testosterone level, Gonadal dysgenesis with female appearanc... ORPHA:206484
Partial Androgen Insensitivity Syndrome
Ambiguous genitalia, Male sexual dysfunction, Blind vagina, Primary amenorrhea, Increased circula... ORPHA:90797
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Symmetric polyarthritis, Synovitis, Limitation of joint mobility, Osteopenia, Elevated circulatin... ORPHA:85435
Cortisone Reductase Deficiency 1
Infertility, Precocious puberty, Obesity, Oligomenorrhea OMIM:604931
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Nephroblastoma, Gonadoblastoma, Streak ovary, Abnormality of the uterus, Nephropathy, Hypospadias... OMIM:194072
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Osteoporosis, Osteopenia ORPHA:529665
Werner Syndrome
Decreased fertility, Hypogonadism, Thyroid carcinoma, Abnormal testis morphology, Increased bone ... ORPHA:902
Gaucher Disease Type 3
Increased susceptibility to fractures, Increased bone mineral density, Hematuria, Osteolysis, Del... ORPHA:77261
Glycogen Storage Disease Ia
Hyperuricemia, Enlarged kidney, Gout, Delayed puberty, Decreased glomerular filtration rate, Hype... OMIM:232200
Carcinoma Of Esophagus
Obesity, Weight loss ORPHA:70482
Spondyloepimetaphyseal Dysplasia, Irapa Type
Synostosis of carpal bones, Osteoporosis, Limitation of joint mobility, Osteoarthritis ORPHA:93351
Gnathodiaphyseal Dysplasia
Increased susceptibility to fractures, Osteomyelitis, Osteopenia, Diaphyseal cortical sclerosis OMIM:166260
Woodhouse-Sakati Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Premature ovarian insufficiency, ... OMIM:241080
Insulin-Like Growth Factor I Deficiency
Decreased serum insulin-like growth factor 1, Decreased body weight, Elevated circulating growth ... OMIM:608747
Bardet-Biedl Syndrome 7
Obesity, Hypogonadism OMIM:615984
Duchenne And Becker Muscular Dystrophy
Elevated circulating creatine kinase concentration, Joint stiffness, Reduced bone mineral density ORPHA:262
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Osteolysis, Ankylosis ORPHA:659
Mycetoma
Osteomyelitis, Painless fractures due to injury, Abnormal bone structure, Bone cyst, Pathologic f... ORPHA:2583
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Renal agenesis, Radioulnar synostosis, Hypospadias, Cryptorchidism, Renal hypoplasia, Obesity, Cr... ORPHA:171839
Galactosemia
Decreased fertility, Hypergalactosemia, Increased level of galactitol in plasma, Secondary amenor... ORPHA:352
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Decreased fertility, Obesity, Hypogonadism, Abnormal testis morphology ORPHA:2233
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Hydroureter, Large for gestational age, Renal cyst, Ureteral stenosis, Osteopenia, Nephrocalcinos... OMIM:615398
Paternal Uniparental Disomy Of Chromosome 1
Recurrent fractures, Enlarged kidney, Membranoproliferative glomerulonephritis, Increased blood u... ORPHA:251004
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Camptodactyly of finger, Camptodactyly of toe, Osteoarthritis of the elbow, Bone cyst, Osteoporos... ORPHA:2848
Hypophosphatemic Rickets And Hyperparathyroidism
Renal phosphate wasting, Parathyroid hyperplasia, Hypophosphatemia, Rickets, Elevated circulating... OMIM:612089
Menkes Disease
Osteoporosis, Decreased circulating ceruloplasmin concentration, Joint laxity OMIM:309400
48,Xxyy Syndrome
Decreased testicular size, Type II diabetes mellitus, Infertility, Radioulnar synostosis, Hypopla... ORPHA:10
Tsh-Secreting Pituitary Adenoma
Enlarged pituitary gland, Impotence, Decreased female libido, Euthyroid hyperthyroxinemia, Increa... ORPHA:91347
Porphyria, Congenital Erythropoietic
Joint contracture of the hand, Red urine, Pink urine, Osteolysis, Osteopenia, Pathologic fracture... OMIM:263700
Prader-Willi Syndrome
Precocious puberty, Adrenal insufficiency, Primary amenorrhea, Abdominal obesity, External genita... OMIM:176270
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Obesity, Reduced circulating prolactin concentration OMIM:264120
Intellectual Developmental Disorder, X-Linked 91
Obesity OMIM:300577
Hypophosphatemic Rickets, Autosomal Recessive, 1
Increased bone mineral density, Hypophosphatemia, Rickets, Hypophosphatemic rickets, Craniosynost... OMIM:241520
Progressive Pseudorheumatoid Dysplasia
Camptodactyly of finger, Joint contracture of the hand, Joint stiffness, Osteoporosis, Osteoarthr... OMIM:208230
Fanconi Renotubular Syndrome 1
Aminoaciduria, Osteomalacia, Glycosuria, Hyperphosphaturia, Hypophosphatemia, Hypokalemia, Renal ... OMIM:134600
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Enuresis, Obesity, Failure to thrive in infancy OMIM:613670
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Osteolytic defects of the phalanges of the hand, Arthritis, Limitation of joint mobility, Disprop... OMIM:259100
Refractory Celiac Disease
Weight loss, Hypophosphatemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia, Osteoporosis, Hypoa... ORPHA:398063
Thrombocytopenia 6
Osteoporosis, Myelofibrosis OMIM:616937
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Increased circulating free fatty acid level, Abnormal circulating insu... ORPHA:293964
Hepatoerythropoietic Porphyria
Abnormal circulating porphyrin concentration, Purple urine, Red urine, Osteolysis, Osteopenia, Re... ORPHA:95159
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Amish Lethal Microcephaly
Organic aciduria, Osteoporosis, Decreased skull ossification, Limitation of joint mobility ORPHA:99742
Aicardi-Goutieres Syndrome 9
Hypothyroidism, Weight loss, Recurrent urinary tract infections, Stage 5 chronic kidney disease, ... OMIM:619487
Kennedy Disease
Decreased fertility, Type II diabetes mellitus, Testicular atrophy, Erectile dysfunction ORPHA:481
Hypophosphatemic Rickets, Autosomal Dominant
Renal phosphate wasting, Osteomalacia, Hypophosphatemia, Rickets, Hypophosphatemic rickets OMIM:193100
Gamma-Heavy Chain Disease
Osteolysis, Rheumatoid arthritis ORPHA:100026
Lipodystrophy, Familial Partial, Type 5
Irregular menstruation, Increased C-peptide level, Diabetic ketoacidosis, Decreased serum leptin,... OMIM:615238
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Axial Osteomalacia
Renal cyst, Increased bone mineral density, Elevated circulating creatine kinase concentration, O... OMIM:109130
Methylcobalamin Deficiency Type Cble
Hemolytic-uremic syndrome, Glomerulopathy, Hyperhomocystinemia, Hypomethioninemia, Failure to thr... ORPHA:2169
Dent Disease 1
Renal phosphate wasting, Thin bony cortex, Aminoaciduria, Proximal tubulopathy, Recurrent fractur... OMIM:300009
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Flexion contracture, Elevated circulating creatine kinase concentration, Failur... OMIM:613327
Lysinuric Protein Intolerance
Hyperlysinuria, Ornithinuria, Glomerulonephritis, Hypercholesterolemia, Argininuria, Renal fibros... ORPHA:470
Glycogen Storage Disease Ib
Hyperuricemia, Enlarged kidney, Gout, Delayed puberty, Decreased glomerular filtration rate, Panc... OMIM:232220
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Hyperphosphaturia, Rickets, Low-molecular-weight proteinuria, Elevated... OMIM:615605
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Indolent Systemic Mastocytosis
Osteoporosis ORPHA:98848
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperinsulinemia, Flexion contracture, Acroosteolysis of distal phalanges (feet), Stage 5 chronic... OMIM:608612
Familial Dysautonomia
Glomerulopathy, Recurrent fractures, Abnormality of the kidney, Osteolysis, Hyponatremia, Renal i... ORPHA:1764
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Laron Syndrome