Gene Summary

Name:
relaxin/insulin-like family peptide receptor 2
Synonyms:
Great,  LGR8,  Gpr106

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
small testis Rxfp2tm1b(EUCOMM)Wtsi HOM Early adult 0.00
increased circulating calcium level Rxfp2tm1b(EUCOMM)Wtsi HOM Early adult 8.94×10-05
prolonged QT interval Rxfp2tm1b(EUCOMM)Wtsi HOM Early adult 5.09×10-07
increased erythrocyte cell number Rxfp2tm1b(EUCOMM)Wtsi HOM Early adult 4.01×10-06
increased circulating lipase level Rxfp2tm1b(EUCOMM)Wtsi HOM Early adult 9.44×10-07
increased hemoglobin content Rxfp2tm1b(EUCOMM)Wtsi HOM Early adult 3.91×10-06
male infertility Rxfp2tm1b(EUCOMM)Wtsi HOM Early adult 0.00
increased hematocrit Rxfp2tm1b(EUCOMM)Wtsi HOM Early adult 1.11×10-05
increased pulmonary respiratory rate Rxfp2tm1b(EUCOMM)Wtsi HOM Early adult 1.97×10-18
abnormal optic disk morphology Rxfp2tm1b(EUCOMM)Wtsi HOM Early adult 1.48×10-05
increased heart rate variability Rxfp2tm1b(EUCOMM)Wtsi HOM Early adult 3.28×10-06
abnormal lens morphology Rxfp2tm1b(EUCOMM)Wtsi HOM   Early adult 8.90×10-05
urinary bladder obstruction Rxfp2tm1b(EUCOMM)Wtsi HOM Early adult 0.00
increased circulating alkaline phosphatase level Rxfp2tm1b(EUCOMM)Wtsi HOM Early adult 6.67×10-10
abnormal liver morphology Rxfp2tm1b(EUCOMM)Wtsi HOM Early adult 0.00
decreased locomotor activity Rxfp2tm1a(EUCOMM)Wtsi HOM Early adult 9.18×10-06
increased circulating sodium level Rxfp2tm1b(EUCOMM)Wtsi HOM Early adult 9.42×10-07
increased circulating aspartate transaminase level Rxfp2tm1b(EUCOMM)Wtsi HOM Early adult 4.34×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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
Testis  Wholemount images heterozygote 100% (1 of 1)
Adrenal gland N/A heterozygote 0.0% (0 of 1)
Aorta N/A heterozygote 0.0% (0 of 1)
Blood N/A heterozygote 0.0% (0 of 1)
Bone marrow N/A heterozygote 0.0% (0 of 1)
Bone N/A heterozygote 0.0% (0 of 1)
Brain N/A heterozygote 0.0% (0 of 1)
Brainstem N/A heterozygote 0.0% (0 of 1)
Brown adipose tissue N/A heterozygote 0.0% (0 of 1)
Cartilage tissue N/A heterozygote 0.0% (0 of 1)
Cecum N/A heterozygote 0.0% (0 of 1)
Cerebellum N/A heterozygote 0.0% (0 of 1)
Cerebral cortex N/A heterozygote 0.0% (0 of 1)
Chest bone N/A heterozygote 0.0% (0 of 1)
Colon N/A heterozygote 0.0% (0 of 1)
Cranium N/A heterozygote 0.0% (0 of 1)
Diaphragm N/A heterozygote 0.0% (0 of 1)
Epididymis N/A heterozygote Not available
Esophagus N/A heterozygote 0.0% (0 of 1)
Eye N/A heterozygote 0.0% (0 of 1)
Gall bladder N/A heterozygote 0.0% (0 of 1)
Harderian gland N/A heterozygote 0.0% (0 of 1)
Heart N/A heterozygote 0.0% (0 of 1)
Hindlimb N/A heterozygote 0.0% (0 of 1)
Hippocampus N/A heterozygote 0.0% (0 of 1)
Hypothalamus N/A heterozygote 0.0% (0 of 1)
Kidney N/A heterozygote 0.0% (0 of 1)
Large intestine N/A heterozygote 0.0% (0 of 1)
Liver N/A heterozygote 0.0% (0 of 1)
Lower urinary tract N/A heterozygote 0.0% (0 of 1)
Lung N/A heterozygote 0.0% (0 of 1)
Lymph node N/A heterozygote 0.0% (0 of 1)
Main olfactory bulb N/A heterozygote 0.0% (0 of 1)
Mammary gland N/A heterozygote Not available
Mesenteric lymph node N/A heterozygote 0.0% (0 of 1)
Olfactory lobe N/A heterozygote 0.0% (0 of 1)
Oral epithelium N/A heterozygote 0.0% (0 of 1)
Ovary N/A heterozygote Not available
Oviduct N/A heterozygote Not available
Pancreas N/A heterozygote 0.0% (0 of 1)
Parathyroid gland N/A heterozygote 0.0% (0 of 1)
Parotid gland N/A heterozygote 0.0% (0 of 1)
Penis N/A heterozygote Not available
Peripheral nervous system N/A heterozygote 0.0% (0 of 1)
Peyer's patch N/A heterozygote 0.0% (0 of 1)
Pituitary gland N/A heterozygote 0.0% (0 of 1)
Prostate gland N/A heterozygote Not available
Sciatic nerve N/A heterozygote 0.0% (0 of 1)
Skeletal muscle N/A heterozygote 0.0% (0 of 1)
Skin N/A heterozygote 0.0% (0 of 1)
Small intestine N/A heterozygote 0.0% (0 of 1)
Spinal cord N/A heterozygote 0.0% (0 of 1)
Spleen N/A heterozygote 0.0% (0 of 1)
Stomach pyloric region N/A heterozygote 0.0% (0 of 1)
Stomach N/A heterozygote 0.0% (0 of 1)
Striatum N/A heterozygote 0.0% (0 of 1)
Sublingual gland N/A heterozygote 0.0% (0 of 1)
Submandibular gland N/A heterozygote 0.0% (0 of 1)
Thymus N/A heterozygote 0.0% (0 of 1)
Thyroid gland N/A heterozygote 0.0% (0 of 1)
Tongue N/A heterozygote 0.0% (0 of 1)
Trachea N/A heterozygote 0.0% (0 of 1)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 1)
Urinary bladder N/A heterozygote 0.0% (0 of 1)
Uterus N/A heterozygote Not available
Vagina N/A heterozygote Not available
Vas deferens N/A heterozygote 0.0% (0 of 1)
Vascular system N/A heterozygote 0.0% (0 of 1)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 1)
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 0.69% (4 of 580)
aorta 0.17% (1 of 581)
blood 0.0%
bone 0.0%
bone marrow 0.0%
brain 0.87% (5 of 577)
brainstem 0.34% (2 of 591)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 581)
cecum 5.65% (21 of 372)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 582)
chest bone Unavailable
colon 15.79% (21 of 133)
cranium
diaphragm 0.0%
epididymis 15% (21 of 140)
esophagus 1.75% (7 of 400)
eye 0.0%
gall bladder 0.0%
harderian gland 0.76% (1 of 132)
heart 0.17% (1 of 576)
hindlimb 0.0%
hippocampus 0.52% (3 of 576)
hypothalamus 0.34% (2 of 580)
kidney 4.65% (27 of 581)
large intestine 5.51% (32 of 581)
liver 0.0%
lower urinary tract 0.17% (1 of 577)
lung 0.35% (2 of 579)
lymph node 0.17% (1 of 575)
main olfactory bulb 0.0%
mammary gland 0.0%
mesenteric lymph node 0.32% (1 of 315)
olfactory lobe 0.35% (2 of 576)
oral epithelium 0.0%
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 583)
parathyroid gland 0.18% (1 of 564)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.17% (1 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 573)
prostate gland 2.08% (12 of 577)
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 581)
small intestine 5.01% (29 of 579)
spinal cord 0.52% (3 of 581)
spleen 0.52% (3 of 580)
stomach 3.61% (21 of 582)
stomach pyloric region 0.0%
striatum 0.51% (3 of 584)
sublingual gland 0.0%
submandibular gland 1.4% (2 of 143)
testis 1.03% (6 of 581)
thymus 0.17% (1 of 581)
thyroid gland 2.89% (17 of 588)
tongue 3.7% (5 of 135)
trachea 0.51% (3 of 585)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.35% (2 of 571)
vagina 0.0%
vas deferens 4.75% (18 of 379)
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.

Electrocardiogram (ECG)

Waveform Image

28 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

Adult LacZ

LacZ Images Wholemount

1 Images

Human diseases caused by Rxfp2 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 Rxfp2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Testicular Torsion
Testicular torsion, Torsion of appendix of testis OMIM:187400
Partial Chromosome Y Deletion
Oligospermia, Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Decreased ... ORPHA:1646
Spermatogenic Failure 57
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Isochromosomy Yp
Ambiguous genitalia, Male infertility, Decreased testicular size, Primary gonadal insufficiency, ... ORPHA:98797
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Spermatogenic Failure 73
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility OMIM:619108
Isochromosomy Yq
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Primary gonadal ins... ORPHA:98798
Cryptorchidism, Unilateral Or Bilateral
Cryptorchidism, Unilateral cryptorchidism OMIM:219050
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure 25
Azoospermia, Cryptozoospermia, Decreased testicular size OMIM:617960
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Spermatogenic Failure 70
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility OMIM:619828
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal spermatogenesis, Decreased testicular size, Azoospermia, In... ORPHA:399805
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Spermatogenic Failure 63
Reduced progressive sperm motility, Oligospermia, Decreased testicular size, Male infertility OMIM:619689
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Spermatogenic Failure 20
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure, X-Linked, 2
Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Spermatogenic Failure 72
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... OMIM:619867
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Spermatogenic Failure 46
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... OMIM:619095
Spermatogenic Failure, X-Linked, 3
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... OMIM:301059
Spermatogenic Failure 65
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619712
Spermatogenic Failure 43
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... OMIM:618751
Spermatogenic Failure 49
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619144
Spermatogenic Failure 45
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619094
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Spermatogenic Failure 40
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... OMIM:618664
Spermatogenic Failure 56
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619515
Spermatogenic Failure 54
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... OMIM:619379
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Spermatogenic Failure 1
Cryptozoospermia, Oligospermia, Male infertility OMIM:258150
Spermatogenic Failure 47
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella OMIM:619102
Spermatogenic Failure 39
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... OMIM:618643
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... OMIM:619585
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Micropenis, Hypogonadotropic hypogonadism, Absence of pubertal development, Primary amenorrhea, D... OMIM:614840
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... ORPHA:529970
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Deleted in azoospermia
Azoospermia OMIM:400003
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatoge... ORPHA:399808
Spermatogenic Failure 41
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head OMIM:618670
Spermatogenic Failure 42
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... OMIM:618745
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Azoospermia, Male hypogonadism OMIM:241000
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Persistent Mullerian Duct Syndrome, Types I And Ii
Decreased antimullerian hormone level, Bilateral cryptorchidism, Male infertility OMIM:261550
Spermatogenic Failure 5
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa OMIM:243060
Testicular Anomalies With Or Without Congenital Heart Disease
Micropenis, Ambiguous genitalia, Testicular dysgenesis, Cryptorchidism, Perineal hypospadias, Mic... OMIM:615542
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility OMIM:619696
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... OMIM:611102
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia, Spermatocele OMIM:301060
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Female infertility, Ambiguous genitalia, female, Ambiguous genitalia, m... ORPHA:261529
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Immotile sperm, Abnormal sperm morphology OMIM:608653
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... OMIM:108420
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility ORPHA:276183
Bifid Nose, Autosomal Dominant
Cryptorchidism OMIM:109740
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... OMIM:616950
Spermatogenic Failure 51
Microcephalic sperm head, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm mot... OMIM:619177
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Spermatogenic Failure 35
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618153
Spermatogenic Failure 18
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617576
Spermatogenic Failure 19
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617592
7P22.1 Microduplication Syndrome
Cryptorchidism ORPHA:314034
Caudal Appendage-Deafness Syndrome
Cryptorchidism ORPHA:1123
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Infertility, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased testicular ... OMIM:146110
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circul... OMIM:229070
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism OMIM:274205
3-Methylglutaconic Aciduria, Type V
Microvesicular hepatic steatosis, 3-Methylglutaric aciduria, Hypospadias, Sudden cardiac death, O... OMIM:610198
Spermatogenic Failure 28
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... OMIM:618086
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Gonadotr... OMIM:614837
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility ORPHA:48
Spermatogenic Failure 38
Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti... OMIM:618433
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Male infertility, Absent vas deferens OMIM:277180
Erythrocytosis, Familial, 1
Increased hematocrit, Cerebral hemorrhage, Splenomegaly, Increased red blood cell mass, Myocardia... OMIM:133100
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Decreased serum testosterone concentration, Delayed menarche, Hypogonadotropi... ORPHA:52901
Polycythemia Vera
Budd-Chiari syndrome, Increased hematocrit, Leukocytosis, Splenomegaly, Cerebral hemorrhage, Cere... OMIM:263300
Chronic Bilirubin Encephalopathy
Hypernatremia, Central apnea, Hemolytic anemia, Conjunctival icterus, Abnormal conjunctiva morpho... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Central apnea, Hemolytic anemia, Abnormal conjunctiva morphology, Conjunctival ict... ORPHA:529799
Dehydrated Hereditary Stomatocytosis
Increased circulating ferritin concentration, Anemia of inadequate production, Increased mean cor... ORPHA:3202
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Young Syndrome
Azoospermia OMIM:279000
Neuroleptic Malignant Syndrome
Proteinuria, Hyperuricemia, Elevated circulating creatine kinase concentration, Myoglobinuria, Pu... ORPHA:94093
Androgen Insensitivity, Partial
Infertility, Bifid scrotum, Micropenis, Male pseudohermaphroditism, Absent vas deferens, Hypogona... OMIM:312300
Premature Ovarian Failure 10
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypo... OMIM:612885
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Micropenis, Primary amenorrhea, Decreased testicular size, Hypogonadism, Cryptorchidism OMIM:616030
Rhabdoid Tumor
Neoplasm of the liver, Respiratory insufficiency, Hematuria, Hypercalcemia, Internal hemorrhage, ... ORPHA:69077
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 6
Globozoospermia, Male infertility, Decreased acrosin in sperm head OMIM:102530
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
Diffuse Neonatal Hemangiomatosis
Abnormal vagina morphology, Hepatomegaly, Renal insufficiency, Hypercalcemia, Anemia, Thrombocyto... ORPHA:2123
Hypervitaminosis A, Susceptibility To
Papilledema, Abnormality of the liver, Renal insufficiency, Hypercalcemia OMIM:240150
Pseudohypoparathyroidism Type 2
Hypocalcemia, Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Hyperphosphate... ORPHA:94090
Pseudovaginal Perineoscrotal Hypospadias
Abnormality of the endocrine system, Ambiguous genitalia, male, Micropenis, Bifid scrotum, Crypto... OMIM:264600
Autoimmune Hypoparathyroidism
Abnormal left ventricular function, Hypocalcemia, Autoimmune hypoparathyroidism, Ventricular arrh... ORPHA:36913
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia of inadequate production, Hepatomegaly, Anisocytosis, Increased RBC distribution width, Sc... OMIM:613673
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Urogenital sinus anomaly, Abnormality of the endocrine system, Hypoplasia of penis, Ambiguous gen... ORPHA:753
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Cryptorchidism ORPHA:1074
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Decreased testicular size OMIM:614858
Familial Male-Limited Precocious Puberty
Precocious puberty, Oligospermia, Long penis, Male infertility, Macroorchidism ORPHA:3000
Spermatogenic Failure, X-Linked, 4
Decreased serum testosterone concentration, Abnormal prolactin level, Elevated circulating lutein... OMIM:301077
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
46,Xx Testicular Disorder Of Sex Development
Polycystic ovaries, Ambiguous genitalia, Male hypogonadism, Decreased testicular size ORPHA:393
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hypocalcemia, Episodic tachypnea, Hepatomegaly, Hypoproteinemia, Hyperammon... ORPHA:26793
Tako-Tsubo Cardiomyopathy
Angina pectoris, Decreased QRS voltage, Low-output congestive heart failure, Abnormal B-type natr... ORPHA:66529
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Testicular microlithiasis, Micropenis, Ovarian cyst, ... OMIM:228300
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Retinohepatoendocrinologic Syndrome
Infertility, Maturity-onset diabetes of the young, Degenerative liver disease, Elevated circulati... OMIM:268040
Spermatogenic Failure 24
Coiled sperm flagella, Microcephalic sperm head, Reduced sperm motility, Short sperm flagella, Ta... OMIM:617959
Romano-Ward Syndrome
Torsade de pointes, Hypokalemia, Abnormal T-wave, Abnormal autonomic nervous system physiology, S... ORPHA:101016
Morbid Obesity And Spermatogenic Failure
Infertility, Oligospermia, Azoospermia, Type II diabetes mellitus OMIM:615703
Cirrhotic Cardiomyopathy
Hepatomegaly, Jaundice, Abnormal A-type atrial natriuretic peptide level, Third heart sound, Incr... ORPHA:57777
Drug-Induced Lupus Erythematosus
Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Elevated ci... ORPHA:231111
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum testosterone concentration, Micropenis, Decreased circulating follicle stimulatin... OMIM:614897
Syndromic X-Linked Intellectual Disability 7
Cryptorchidism, Hypogonadism, Hypoplasia of penis, Micropenis ORPHA:85274
N Syndrome
Hypospadias, Cryptorchidism ORPHA:2608
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Infertility, Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Abnormality of the urethr... ORPHA:752
Long Qt Syndrome 13
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... OMIM:613485
Erythrocytosis, Familial, 2
Elevated circulating erythropoietin concentration, Increased hematocrit, Cerebral hemorrhage, Hyp... OMIM:263400
46,Xy Sex Reversal 8
Sex reversal, Ambiguous genitalia, Male pseudohermaphroditism, Cryptorchidism OMIM:614279
Polydactyly-Myopia Syndrome
Cryptorchidism ORPHA:2917
Neonatal Lupus Erythematosus
Abnormality of the liver, Neutropenia, Hepatomegaly, Splenomegaly, Hepatic failure, Aplastic anem... ORPHA:398124
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Proteinuria, Renal insufficiency, Hypercalcemia, Hyperparathyroidism, Anemia ORPHA:2668
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Crackles, Tachycardia, Elevated carcinoembryonic antigen level, Acute infec... ORPHA:264675
Erythrocytosis, Familial, 4
Polycythemia, Elevated circulating erythropoietin concentration, Increased hemoglobin, Increased ... OMIM:611783
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Supraventricular tachycardia, Abnormal left ventricular function, Maternal ... ORPHA:45452
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... ORPHA:983
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens OMIM:300985
Erythrocytosis, Familial, 5
Polycythemia, Elevated circulating erythropoietin concentration, Increased hemoglobin, Increased ... OMIM:617907
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Micropenis, Primary amenorrhea, Decreased testicular size, Cryptorchidism OMIM:614880
Non-Functioning Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cranial nerve com... ORPHA:94080
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hypomagnesemia, Chronic kidney disease, Leukopenia, Polyuria, Respiratory insufficiency, Pulmonar... OMIM:613845
Spinocerebellar Ataxia, Autosomal Recessive 23
Arrhythmia, Hyponatremia, Neutropenia OMIM:616949
Craniostenosis, Sagittal, With Congenital Heart Disease, Mental Deficiency, And Mandibular Ankylosis
Cryptorchidism, Microphallus, Micropenis OMIM:218450
Jervell And Lange-Nielsen Syndrome 1
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval OMIM:220400
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Decreased response to growth hormone stimulation test, Elevated circulating parathy... ORPHA:94089
Kennedy Disease
Erectile dysfunction, Testicular atrophy, Type II diabetes mellitus, Decreased fertility ORPHA:481
Gaisböck Syndrome
Angina pectoris, Increased hematocrit, Hypertension, Hypovolemia, Hyperproteinemia, Elevated plas... ORPHA:90041
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Elevated circulating C-reactive protein concentration, Pulmonary hemorrhage, Decreased DLCO, Coug... OMIM:616414
Precocious Puberty, Male-Limited
Precocious puberty in males, Decreased testicular size OMIM:176410
Cardiomyopathy, Dilated, 1D
Increased circulating brain natriuretic peptide concentration, Sudden cardiac death, Increased le... OMIM:601494
Dilated Cardiomyopathy With Ataxia
Microvesicular hepatic steatosis, Hypoplasia of penis, Hypochromic microcytic anemia, Elevated ci... ORPHA:66634
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Prolonged QT interval, Elevated circulating creatine kinase concentration, Cataract OMIM:615351
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Decreased circulating luteinizing hormone level, Congenital adrenal hypoplasia, Cryptorchidism, M... OMIM:202150
Timothy Syndrome
Hypocalcemia, Hypothyroidism, Pneumonia, Prolonged QT interval, Bradycardia OMIM:601005
Primary Familial Polycythemia
Abnormal hemoglobin, Polycythemia, Cough, Dyspnea, Exertional dyspnea, Epistaxis ORPHA:90042
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome
Cryptorchidism ORPHA:1568
Long Qt Syndrome 2
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... OMIM:613688
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Hepatomegaly, Aminoaciduria, Splenomegaly, Elevated circulating parathyroid hor... OMIM:239200
Blue Diaper Syndrome
Nephrocalcinosis, Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Partial Androgen Insensitivity Syndrome
Abnormal circulating estrogen level, Blind vagina, Primary amenorrhea, Ambiguous genitalia, Clito... ORPHA:90797
Beta-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Hyp... ORPHA:848
Anemia, Hypochromic Microcytic, With Iron Overload 2
Azoospermia, Hypogonadism OMIM:615234
Rh Deficiency Syndrome
Hypochromia, Hyperbilirubinemia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Tachycardia, Ma... ORPHA:71275
Hypermanganesemia With Dystonia 1
Decreased liver function, Hepatomegaly, Polycythemia, Cirrhosis, Elevated hepatic transaminase, H... OMIM:613280
Hypophosphatasia
Respiratory insufficiency, Anemia, Hypercalcemia, Emphysema ORPHA:436
Hemochromatosis, Type 2A
Amenorrhea, Infertility, Hypogonadotropic hypogonadism, Azoospermia OMIM:602390
Avian Influenza
Respiratory distress, Elevated circulating C-reactive protein concentration, Pneumonia, Hypoxemia... ORPHA:454836
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Bidirecti... OMIM:614021
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hypergonadotropic hypogonadism, Azoospermia OMIM:613724
Tempi Syndrome
Increased hematocrit, Polycythemia, Intracranial hemorrhage, Hypoxemia, Telangiectasia, Transudat... ORPHA:284227
Adrenal Hypoplasia, Congenital
Adrenal insufficiency, Decreased circulating aldosterone level, Precocious puberty, Decreased cir... OMIM:300200
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukoc... ORPHA:36238
Duodenal Neuroendocrine Tumor
Melena, Hepatic failure, Tricuspid stenosis, Intestinal carcinoid, Extrahepatic cholestasis, Righ... ORPHA:100076
Persistent Müllerian Duct Syndrome
Male pseudohermaphroditism, Cryptorchidism ORPHA:2856
Snakebite Envenomation
Respiratory paralysis, Epistaxis, Tachycardia, Intracranial hemorrhage, Cardiogenic shock, Hypote... ORPHA:449285
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Cerebral hemorrhage, Hypertensive retinopathy, Pheochromocytoma,... OMIM:171420
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... ORPHA:251510
Long Qt Syndrome 10
Sudden cardiac death, T-wave alternans, Atrial fibrillation, Prolonged QT interval, Atrioventricu... OMIM:611819
Erythrocytosis, Familial, 6
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:617980
Atrial Fibrillation, Familial, 9
Permanent atrial fibrillation, Palpitations, Prolonged QTc interval, Syncope, Paroxysmal atrial f... OMIM:613980
Hepatocellular Carcinoma
Hepatomegaly, Jaundice, Hyperbilirubinemia, Elevated hepatic transaminase, Hyponatremia, Hepatic ... ORPHA:88673
Ribose 5-Phosphate Isomerase Deficiency
Increased level of xylitol in urine, Increased level of D-threitol in urine, Increased level of r... OMIM:608611
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Cryptorchidism OMIM:309585
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, female, Decreased fertility in males, Decreased circulating cortisol level, ... ORPHA:90791
Myofibrillar Myopathy 10
Elevated circulating creatine kinase concentration, Increased QRS voltage, Prolonged QTc interval OMIM:619040
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Long Qt Syndrome 6
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... OMIM:613693
Nephrogenic Diabetes Insipidus
Nephrogenic diabetes insipidus, Hypovolemia, Hyposthenuria, Hydroureter, Hypernatremia, Functiona... ORPHA:223
X-Linked Intellectual Disability, Siderius Type
Cryptorchidism, Decreased testicular size ORPHA:85287
Alpha-Heavy Chain Disease
Hypocalcemia, Hepatomegaly, Splenomegaly, Anemia, Premature ovarian insufficiency ORPHA:100025
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Elevat... OMIM:619658
Glucose-Galactose Malabsorption
Nephrolithiasis, Hematuria, Hypernatremia, Renal insufficiency, Hypercalcemia ORPHA:35710
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Hypernatremia, Hydronephrosis, Pituitary h... OMIM:615926
Acute Interstitial Pneumonia
Elevated circulating C-reactive protein concentration, Hypoxemia, Nonproductive cough, Crackles, ... ORPHA:79126
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis, Hypovolemic shock, Glucocortocoid-insensitive primary hyperaldosteronism, Arrhyth... ORPHA:171876
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Impotence, Hepatomegaly, Cirrhosis, Arrhythmia, Cat... OMIM:606069
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Megacystis, Nephrogenic diabetes insipidus, Polyuria, Hypernatremia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polyuria, Megacystis, Hypernatremia, Diabetes insipidus OMIM:304800
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Azoospermia, Abnormality of the hypothalamus-pituitary axis ORPHA:2183
Mastocytosis
Asthma, Telangiectasia of the skin, Hepatomegaly, Splenomegaly, Respiratory insufficiency, Arrhyt... ORPHA:98292
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Hypophosphatemia, Polyuria, Hypercalciuria, Hypercalcemia, Medullary nep... OMIM:616963
Isolated Splenogonadal Fusion
Hydrocele testis, Abnormal penis morphology, Unilateral cryptorchidism, Testicular mass, Bilatera... ORPHA:457083
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acetylcarnitine concentration, Hyperinsulinemic hypoglycemia, Hyperammonemia... ORPHA:71212
Corticosterone Methyloxidase Type Ii Deficiency
Decreased circulating aldosterone level, Orthostatic hypotension, Increased circulating 18-hydrox... OMIM:610600
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Amenorrhea, Testicular atrophy, Impotence, Hepatome... OMIM:235200
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona... OMIM:308700
Hereditary Coproporphyria
Dark urine, Respiratory insufficiency, Increased urinary porphobilinogen, Elevated urinary delta-... ORPHA:79273
Jervell And Lange-Nielsen Syndrome
Torsade de pointes, Arrhythmia, Prolonged QTc interval, Syncope, Iron deficiency anemia, Ventricu... ORPHA:90647
Thymic Neuroendocrine Tumor
Pituitary null cell adenoma, Pituitary adenoma, Increased circulating cortisol level, Neuroendocr... ORPHA:97289
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus ORPHA:2578
Colchicine Poisoning
Respiratory distress, Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Leukocytosis, ... ORPHA:31824
Atrial Fibrillation, Familial, 3
Permanent atrial fibrillation, Sudden cardiac death, Prolonged QTc interval, Syncope, Atrial fibr... OMIM:607554
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... ORPHA:766
Intellectual Developmental Disorder, X-Linked 103
Bilateral cryptorchidism, Micropenis OMIM:300982
Oculoskeletodental Syndrome
Hypocalcemia, Hepatomegaly, Splenomegaly, Hypercalciuria, Hypothyroidism, Mucopolysacchariduria, ... OMIM:618440
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Decreased response to growth hormone stimulation test, Micropenis, Hypospadias, Hypercalciuria, A... OMIM:614732
Long Qt Syndrome 1
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... OMIM:192500
Normosmic Congenital Hypogonadotropic Hypogonadism
Increased female libido, Impotence, Hypoplasia of the ovary, Hypoplasia of the uterus, Decreased ... ORPHA:432
Hyperparathyroidism 4
Nephrolithiasis, Primary hyperparathyroidism, Hypercalcemia, Parathyroid carcinoma OMIM:617343
Exercise-Induced Malignant Hyperthermia
Decreased liver function, Hypocalcemia, Abnormal pulse pressure, Abnormal T-wave, ST segment depr... ORPHA:466650
Androgen Insensitivity Syndrome
Ambiguous genitalia, male, Male pseudohermaphroditism, Aplasia/hypoplasia of the uterus, Testicul... ORPHA:754
Leydig Cell Hypoplasia
Abnormal external genitalia, Hypergonadotropic hypogonadism, Primary amenorrhea, Hyoplasia of the... ORPHA:755
Acute Adrenal Insufficiency
Decreased circulating cortisol level, Orthostatic hypotension, Increased circulating renin level,... ORPHA:95409
Pheochromocytoma
Congestive heart failure, Positive regitine blocking test, Cerebral hemorrhage, Hypertensive reti... OMIM:171300
Adamantinoma
Hypercalcemia ORPHA:55881
Hypophosphatasia, Infantile
Apnea, Elevated plasma pyrophosphate, Intracranial hemorrhage, Phosphoethanolaminuria, Hypercalci... OMIM:241500
Blue Diaper Syndrome
Decreased circulating T4 concentration, Elevated hepatic transaminase, Elevated circulating thyro... ORPHA:94086
Porphyria Variegata
Chronic kidney disease, Inappropriate antidiuretic hormone secretion, Abnormal autonomic nervous ... ORPHA:79473
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Increased blood urea nitrogen, Abnormal retinal morphology on macular ... ORPHA:251004
Long Qt Syndrome 14
Prolonged QTc interval, Prolonged QT interval, T-wave alternans, Ventricular fibrillation, Cardia... OMIM:616247
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Cryptorchidism, Hypoplasia of penis, Aplasia/Hypoplasia of the testes ORPHA:3055
Acute Lung Injury
Respiratory distress, Increased circulating surfactant protein level, Elevated circulating C-reac... ORPHA:178320
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Adrenocorticotropic hormone deficiency, Impotence, Precocious puberty, Decreased response to grow... ORPHA:91354
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatomegaly, Respiratory arrest, Periportal fibrosis, Hyperammonemia, S... OMIM:201475
Erythrocytosis, Familial, 7
Polycythemia, Increased hematocrit OMIM:617981
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Adrenocorticotropic hormone deficiency, Graves disease, Pituitary adenoma, De... ORPHA:199299
Xq27.3Q28 Duplication Syndrome
Premature ovarian insufficiency, Cryptorchidism, Decreased testicular size, Hypogonadism ORPHA:261483
Familial Hyperaldosteronism Type Iii
Hypokalemia, Intracranial hemorrhage, Hypercalciuria, Adrenal hyperplasia, Prolonged QT interval,... ORPHA:251274
Late-Onset Familial Hypoaldosteronism
Decreased circulating aldosterone level, Orthostatic hypotension, Elevated serum 11-deoxycortisol... ORPHA:556037
Granulomatous Slack Skin
Nephrocalcinosis, Acute kidney injury, Hypercalcemia ORPHA:33111
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypertension associated with pheochromocytoma, Congestive heart failure, Positive regitine blocki... ORPHA:276621
Corticosterone Methyloxidase Type I Deficiency
Decreased circulating aldosterone level, Increased circulating renin level, Hypotension, Hyponatr... OMIM:203400
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Leukocytosis, Abnormal autonomic nervous system physiology, Cerebral vasculitis, Hypothyroidism, ... ORPHA:83601
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... ORPHA:2138
Pyruvate Carboxylase Deficiency
Hyperlysinemia, Lacticaciduria, Hepatomegaly, Hyperammonemia, Increased serum pyruvate, Hyperprol... ORPHA:3008
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the uterus, Decreased serum testosterone concentration, Bifid scrotum... OMIM:278850
Hyperparathyroidism 2 With Jaw Tumors
Nephrolithiasis, Hurthle cell thyroid adenoma, Parathyroid adenoma, Parathyroid carcinoma, Polycy... OMIM:145001
Muscular Dystrophy, Becker Type
Abnormal EKG, Elevated circulating creatine kinase concentration, Arrhythmia, Cardiomyopathy OMIM:300376
Retinitis Pigmentosa 59
Cryptorchidism, Micropenis OMIM:613861
Ethylene Glycol Poisoning
Renal tubular dysfunction, Hypocalcemia, Episodic respiratory distress, Hypertension, Facial pals... ORPHA:31826
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Syncope, ... OMIM:615441
Cocaine Intoxication
Respiratory distress, Supraventricular arrhythmia, Subarachnoid hemorrhage, Hematuria, Myocardial... ORPHA:90068
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated circulating acylcarnitine concentration, Torsade de pointes, Ketonuria, Hyperammonemia, ... OMIM:616878
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Parathyroid adenoma, Elevated circulating parathyroid hormone level, Primary hy... ORPHA:99879
Hao-Fountain Syndrome
Cryptorchidism, Premature adrenarche, Micropenis OMIM:616863
Early-Onset Familial Hypoaldosteronism
Decreased circulating aldosterone level, Orthostatic hypotension, Elevated serum 11-deoxycortisol... ORPHA:556030
Addison Disease
Thymoma, Decreased circulating cortisol level, Orthostatic hypotension, Increased circulating ren... ORPHA:85138
Long Qt Syndrome 9
Cardiac arrest, Abnormal U wave, Ventricular arrhythmia, Syncope, Sinus bradycardia, Prolonged QT... OMIM:611818
Wolcott-Rallison Syndrome
Chronic kidney disease, Exocrine pancreatic insufficiency, Hepatomegaly, Lymphocytosis, Hyperbili... ORPHA:1667
Hypogonadism-Cataract Syndrome
Infertility, Elevated circulating follicle stimulating hormone level, Male hypogonadism, Hypogona... OMIM:240950
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... OMIM:616117
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Elevated systolic blood pressure, Decreased serum creatinine, Hypernatriuria, Hyponatremia, Decre... OMIM:300539
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the uterus, Decreased serum testosterone concentration, Hypoplasia of the ovary, Mi... OMIM:614841
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Primary amenorrhea, Hypertriglyceri... OMIM:612526
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Micropenis, Hypogonadotropic hypogonadism, Absence of pubertal development, Primary amenorrhea, D... OMIM:610628
Tetanus
Respiratory distress, Abnormal autonomic nervous system physiology, Elevated circulating creatine... ORPHA:3299
47,Xyy Syndrome
Increased serum testosterone level, Cryptorchidism, Micropenis, Hypospadias, Oligospermia, Varico... ORPHA:8
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism OMIM:612370
Mirage Syndrome
Adrenal insufficiency, Lymphopenia, Cryptorchidism, Hypergonadotropic hypogonadism, Hypospadias, ... OMIM:617053
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Elevated circulating propionylcarnitine concentration, Hypomethioninemia, Methylmalonic aciduria,... OMIM:614857
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis, Hypogonadotropic hypogonadism ORPHA:242
46,Xx Sex Reversal 1
Sex reversal, Bicornuate uterus, Hypospadias, Elevated circulating luteinizing hormone level, Ovo... OMIM:400045
Thyrotoxic Periodic Paralysis
Thyrotoxicosis with toxic multinodular goiter, Hypomagnesemia, Graves disease, Episodic hypokalem... ORPHA:79102
Gitelman Syndrome
Respiratory distress, Graves disease, Type I diabetes mellitus, Proteinuria, Primary hyperaldoste... ORPHA:358
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Fetal Minoxidil Syndrome
Cryptorchidism ORPHA:1918
Beta-Thalassemia Intermedia
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly,... ORPHA:231222
Hereditary Pheochromocytoma-Paraganglioma
Hematuria, Proteinuria, Adrenal pheochromocytoma, Elevated urinary epinephrine, Cerebral hemorrha... ORPHA:29072
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Hepatomegaly, Splenomegaly, Elevated circulating creatine kinase concentration,... OMIM:613327
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Cholelithiasis, Splenomegaly, Polycythemia, Normocytic anemia, C... OMIM:222800
Propionic Acidemia
Apnea, Neutropenia, Hyperglycinuria, Pancreatitis, Cerebellar hemorrhage, Hyperammonemia, Hepatom... OMIM:606054
Bowen-Conradi Syndrome
Cryptorchidism ORPHA:1270
Legionnaires Disease
Lymphopenia, Pancreatitis, Splenomegaly, Respiratory insufficiency, Arrhythmia, Hematuria, Myocar... ORPHA:549
Hyperparathyroidism 1
Primary hyperparathyroidism, Hypercalcemia OMIM:145000
Periventricular Nodular Heterotopia 7
Cryptorchidism OMIM:617201
Maternal Uniparental Disomy Of Chromosome X
Azoospermia, Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia or chromoso... ORPHA:261519
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Elevated circulating acylcarnitine concentration, Tachypnea, Abnormal circulating creatine kinase... OMIM:615838
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Premature ventricular contraction, Sudden cardiac death, Syncope, Prolonged Q... OMIM:612347
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Chronic kidney disease, Elevated creatine kinase after exercise, Elevated hepatic transaminase, A... ORPHA:284426
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hepatomegaly, Hypoproteinemia, Increased LDL choles... OMIM:267700
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Hepatomegaly, Splenomegaly, Cholestasis, Jaundice ORPHA:172
Porphyria Due To Ala Dehydratase Deficiency
Increased erythrocyte protoporphyrin concentration, Myeloproliferative disorder, Increased urinar... ORPHA:100924
Hyperkalemic Periodic Paralysis
Hypokalemia, Respiratory insufficiency, Elevated circulating creatine kinase concentration, Arrhy... ORPHA:682
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Congenital hypothyroidism, Hyponatremia, Cryptorchidism, Hyperkalemia, Renal ... OMIM:614736
8p23.1 deletion syndrome
Cryptorchidism DECIPHER:39
Brugada Syndrome 9
Presyncope, Palpitations, ST segment elevation, Prolonged QT interval OMIM:616399
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Reticulocytosis,... OMIM:237800
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Elevated circulating acylcarnitine concentration, Ketonuria, Hyperammonemia, Elevated circulating... ORPHA:480864
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia, T lymphocytopenia DECIPHER:16
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Decreased circulating ferritin concentration, Hepatomegaly, Micronodular cirrhosis, Jaundice, Spl... ORPHA:309854
Long Qt Syndrome 16
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval OMIM:618782
Necrotizing Enterocolitis
Apnea, Leukocytosis, Peritonitis, Hypotension, Shock, Hyponatremia, Neutropenia, Thrombocytopenia... ORPHA:391673
Vipoma
Hepatomegaly, Adrenocortical adenoma, Increased circulating prolactin concentration, Extrahepatic... ORPHA:97282
Acquired Aneurysmal Subarachnoid Hemorrhage
Cerebral hemorrhage, Leukocytosis, ST segment depression, Cerebral ischemia, Syncope, Hypothyroid... ORPHA:90065
Pseudohypoparathyroidism Type 1C
Hypocalcemia, Decreased response to growth hormone stimulation test, Reduced circulating prolacti... ORPHA:79444
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperactive renin-angiotensin system, Increased circulating renin level, Hyperaldosteronism, Hypo... OMIM:177735
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Gitelman Syndrome
Hypomagnesemia, Hypokalemia, Polyuria, Hypocalciuria, Nocturia, Palpitations, Increased circulati... OMIM:263800
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hyperbilirubinemia, Hypoxemia, Tachycardia, Arrhythmia, Hypotension, Tachypnea, Elevated hepatic ... ORPHA:542323
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Adenohypophysitis
Impotence, Decreased circulating cortisol level, Orthostatic hypotension, Increased circulating p... ORPHA:95512
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Arrhythmia, Syncope, Shortened PR interval, Right bundle branch b... OMIM:604559
Chromosome 18P Deletion Syndrome
Cryptorchidism, Gonadal dysgenesis, Decreased testicular size, Micropenis OMIM:146390
Whipple Disease
Hepatomegaly, Splenomegaly, Respiratory insufficiency, Myocarditis, Cough, Hypothyroidism, Myocar... ORPHA:3452
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Renal tubular acidosis, Hypercalciuria, Hypercalcemia, Hyperparathyroidism, Nephrocalcinosis OMIM:239199
Fumarase Deficiency
Hyperbilirubinemia, Aminoaciduria, Hepatic failure, Polycythemia, Cholestasis, Optic atrophy OMIM:606812
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Decreased serum testosterone concentration, Micropenis, Primary amenorrh... OMIM:618841
Cardiomyopathy, Familial Hypertrophic 27
Cardiac arrest, Tricuspid regurgitation, Concentric hypertrophic cardiomyopathy, Mitral regurgita... OMIM:618052
Malignant Hyperthermia Of Anesthesia
Supraventricular tachycardia, High-output congestive heart failure, Premature ventricular contrac... ORPHA:423
Von Hippel-Lindau Disease
Myocarditis, Myocardial infarction, Elevated circulating catecholamine level, Adrenal pheochromoc... ORPHA:892
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Hypothyroidism, Infertility, Female external genitalia in individual with 46,XY karyotype, Male p... OMIM:264300
Muscular Dystrophy, Cardiac Type
Elevated circulating creatine kinase concentration, Abnormal EKG, Cardiomyopathy, Carnosinuria OMIM:309930
Sick Sinus Syndrome 1
Ventricular escape rhythm, Sick sinus syndrome, Absent P wave, Sinus bradycardia, Prolonged QT in... OMIM:608567
Hypercalcemia, Infantile, 1
Nephrolithiasis, Aortic valve stenosis, Pulmonic stenosis, Polyuria, Hypercalciuria, Infantile hy... OMIM:143880
Methionine Malabsorption Syndrome
Tachypnea, Positive ferric chloride test, Blue irides, Aminoaciduria OMIM:250900
Poems Syndrome
Abnormality of the endocrine system, Polycythemia, Papilledema, Increased circulating prolactin c... ORPHA:2905
Parathyroid Carcinoma
Hyperparathyroidism, Hypercalcemia, Parathyroid carcinoma OMIM:608266
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... ORPHA:289548
Ichthyosis, X-Linked
Cryptorchidism, Testicular neoplasm OMIM:308100
Image Syndrome
Hypospadias, Cryptorchidism, Adrenal hypoplasia, Hypogonadism ORPHA:85173
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Decreased response to growth hormone stimulation test, Hypergonadotropic hypogonadism, Decreased ... ORPHA:280679
Alg8-Cdg
Retinopathy, Optic atrophy, Elevated hepatic transaminase, Cataract, Hyponatremia, Anemia, Thromb... ORPHA:79325
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Exertional dyspnea, Polycythemia OMIM:250800
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine, Hematuria, Arrhythmia, Myocardial infarction, Proteinuria, Renal insu... ORPHA:54057
Hemoglobin H Disease
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Craniosynostosis With Fibular Aplasia
Cryptorchidism OMIM:218550
Panhypophysitis
Impotence, Decreased circulating cortisol level, Orthostatic hypotension, Increased circulating p... ORPHA:95513
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular bigeminy, Ventricular ectopy, Prolonged QTc inte... OMIM:616249
49,Xyyyy Syndrome
Abnormality of the testis size, Decreased serum testosterone concentration, External genital hypo... ORPHA:99330
Cholera
Hypokalemia, Hypocalcemia, Abnormality of renal excretion, Hypovolemic shock, Aspiration pneumoni... ORPHA:173
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Small pituitary gland, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptorchidism OMIM:612702
Oculocerebrodental Syndrome
Hypocalcemia, Nephrocalcinosis, Developmental cataract, Hypercalcemia ORPHA:557003
Hypoadrenocorticism, Familial
Adrenal insufficiency, Apnea, Adrenal hypoplasia, Hyponatremia, Hyperkalemia OMIM:240200
Sarcoidosis
Hepatomegaly, Hepatic failure, Abnormal cardiac ventricular function, Cataract, Enlarged lacrimal... ORPHA:797
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Decreased liver function, Episodic tachypnea, Hyperammonemia, Increased serum pyruvate, Elevated ... OMIM:615160
Pericardial Effusion, Chronic
Polycythemia, Constrictive pericarditis, Retinal arteriolar tortuosity OMIM:260900
Hypoparathyroidism, Familial Isolated, 1
Hypoparathyroidism, Decreased circulating parathyroid hormone level, Hypocalcemia, Hyperphosphate... OMIM:146200
Andersen-Tawil Syndrome
Renal tubular dysfunction, Torsade de pointes, Abnormal T-wave, Premature ventricular contraction... ORPHA:37553
48,Xyyy Syndrome
Azoospermia, Male hypogonadism, Primary gonadal insufficiency ORPHA:99329
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Pulmonic stenosis, Hypernatremia OMIM:615508
Oliver-Mcfarlane Syndrome
Hypoplasia of penis, Decreased response to growth hormone stimulation test, Hypogonadotropic hypo... OMIM:275400
N Syndrome
Hypospadias, Cryptorchidism OMIM:310465
Cardiac Arrhythmia, Ankyrin-B-Related
Sudden cardiac death, Syncope, Atrial fibrillation, Sinus bradycardia, Prolonged QT interval OMIM:600919
Sheehan Syndrome
Impotence, Dyspareunia, Central adrenal insufficiency, Decreased circulating cortisol level, Orth... ORPHA:91355
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperactive renin-angiotensin system, Hyperaldosteronism, Hypotension, Hyponatremia, Pseudohypoal... OMIM:264350
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Sudden cardiac death, Prolonged QTc interval, Syncope, V... OMIM:603830
Tetralogy Of Fallot
Cryptorchidism ORPHA:3303
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hepatomegaly, Hypoproteinemia, Hemophagocytosis, Sp... OMIM:603553
Familial Isolated Hypoparathyroidism
Hypoparathyroidism, Abnormal calcium-phosphate regulating hormone level, Hypocalcemia, Nephropath... ORPHA:2238
Pituitary Apoplexy
Adrenocorticotropic hormone deficiency, Impotence, Pituitary adenoma, Elevated circulating growth... ORPHA:95613
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Congenital hypoparathyroidism, Hypercalciuria, Male infertility, Hy... ORPHA:2239
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Hypospadias, Decreased fertility in females... ORPHA:1916
Attrv122I Amyloidosis
Angina pectoris, Atrial arrhythmia, Aortic valve stenosis, Abnormal autonomic nervous system phys... ORPHA:85451
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Anemia, Sideroblastic, 5
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia OMIM:619523
Bardet-Biedl Syndrome 4
Cryptorchidism, External genital hypoplasia, Hypogonadism OMIM:615982
Sick Sinus Syndrome 2
Torsade de pointes, Sudden cardiac death, Syncope, Atrial fibrillation, Prolonged QTc interval, A... OMIM:163800
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Cataract OMIM:165300
Bacterial Toxic-Shock Syndrome
Respiratory distress, Increased circulating myelocyte count, Sinusitis, Hypocalcemia, Peritonitis... ORPHA:36234
Familial Hypoaldosteronism
Adrenal insufficiency, Decreased circulating aldosterone level, Proximal renal tubular acidosis, ... ORPHA:427
Herpes Simplex Virus Encephalitis
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Respiratory fa... ORPHA:1930
46,Xy Sex Reversal 10
Sex reversal, Micropenis, Ambiguous genitalia, Dysgerminoma, Decreased testicular size, Gonadobla... OMIM:616425
Pseudohypoparathyroidism Type 1A
Hypocalcemia, Band keratopathy, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:79443
Joubert Syndrome 9
Apnea, Episodic tachypnea, Retinal dystrophy, Astigmatism, Cataract, Hepatic fibrosis, Stage 5 ch... OMIM:612285
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
X-Linked Intellectual Disability, Van Esch Type
Type II diabetes mellitus, Decreased serum testosterone concentration, Cryptorchidism, Hypergonad... ORPHA:163976
Livedoid Vasculopathy
Telangiectasia of the skin, Graves disease, Leukocytosis, Abnormal circulating lipid concentratio... ORPHA:542643
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... OMIM:603902
Infant Botulism
Hypotension, Mydriasis, Hyponatremia, Dyspnea, Keratoconjunctivitis sicca, Cardiac arrest, Hypert... ORPHA:178478
Ciliary Dyskinesia, Primary, 40
Infertility, Absent outer dynein arms, Azoospermia OMIM:618300
Hypotonia, Infantile, With Psychomotor Retardation
Cryptorchidism OMIM:616816
Shigellosis
Splenic abscess, Corneal ulceration, Leukocytosis, Hypovolemic shock, Hepatic failure, Urethritis... ORPHA:810