Gene Summary

Name:
protein tyrosine phosphatase, non-receptor type 14
Synonyms:
OTTMUSG00000022087,  PTP36,  C130080N23Rik

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
embryonic lethality prior to organogenesis Ptpn14tm1.1(KOMP)Vlcg HOM   E9.5 0.00
enlarged heart Ptpn14tm1.1(KOMP)Vlcg HOM Early adult 0.00
preweaning lethality, incomplete penetrance Ptpn14tm1.1(KOMP)Vlcg HOM Early adult 0.00
enlarged uterus Ptpn14tm1.1(KOMP)Vlcg HOM Early adult 0.00
small kidney Ptpn14tm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal kidney morphology Ptpn14tm1.1(KOMP)Vlcg HOM Early adult 0.00
increased lean body mass Ptpn14tm1.1(KOMP)Vlcg HOM Early adult 1.97×10-06
abnormal uterus morphology Ptpn14tm1.1(KOMP)Vlcg HOM Early adult 0.00
male infertility Ptpn14tm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal heart morphology Ptpn14tm1.1(KOMP)Vlcg HOM Early adult 0.00
hydrometra Ptpn14tm1.1(KOMP)Vlcg HOM Early adult 0.00
single kidney Ptpn14tm1.1(KOMP)Vlcg HOM Early adult 0.00

Download data as:  TSV  XLS

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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
Cecum  Section images heterozygote 50% (1 of 2)
Colon  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 75% (3 of 4)
Eye  Section images heterozygote 25% (1 of 4)
Harderian gland  Section images heterozygote 50% (1 of 2)
Heart  Section images heterozygote 50% (2 of 4)
Ileum  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (4 of 4)
Mammary gland  Section images heterozygote 50% (2 of 4)
Mesenteric lymph node  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 50% (1 of 2)
Ovary  Section images heterozygote 50% (2 of 4)
Oviduct  Section images heterozygote 50% (2 of 4)
Penis  Section images heterozygote 50% (1 of 2)
Prostate gland  Section images heterozygote 50% (2 of 4)
Quadriceps  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (4 of 4)
Stomach  Section images heterozygote 50% (2 of 4)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 25% (1 of 4)
Thymus  Section images heterozygote 50% (2 of 4)
Tongue  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 25% (1 of 4)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 25% (1 of 4)
Vagina  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Vascular system  Section images heterozygote 50% (2 of 4)
Adrenal gland N/A heterozygote 0.0% (0 of 4)
Aorta N/A heterozygote 0.0% (0 of 4)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 25% (1 of 4)
Brainstem N/A heterozygote 0.0% (0 of 4)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 4)
Cerebellum N/A heterozygote 0.0% (0 of 4)
Cerebral cortex N/A heterozygote 0.0% (0 of 4)
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
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote 0.0% (0 of 4)
Hypothalamus N/A heterozygote 0.0% (0 of 4)
Jejunum N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 50% (2 of 4)
Liver N/A heterozygote 0.0% (0 of 4)
Lower urinary tract N/A heterozygote 50% (2 of 4)
Lung N/A heterozygote 0.0% (0 of 4)
Lymph node N/A heterozygote 0.0% (0 of 4)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 4)
Pancreas N/A heterozygote 0.0% (0 of 4)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 4)
Peyer's patch N/A heterozygote 50% (2 of 4)
Pituitary gland N/A heterozygote 0.0% (0 of 4)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 4)
Small intestine N/A heterozygote 50% (2 of 4)
Spinal cord N/A heterozygote 0.0% (0 of 4)
Spleen N/A heterozygote 0.0% (0 of 4)
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote 0.0% (0 of 4)
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 50% (2 of 4)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 4)

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

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
Ear N/A heterozygote 100% (2 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Footplate N/A heterozygote 0.0% (0 of 2)
Forebrain N/A heterozygote 0.0% (0 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Gut N/A heterozygote 100% (2 of 2)
Handplate N/A heterozygote 0.0% (0 of 2)
Head N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Nose N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Skeleton N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Tail somite N/A heterozygote 100% (2 of 2)
Tail N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Urinary system N/A heterozygote 100% (2 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
axial skeleton Ambiguous
brain 0.0%
central nervous system ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
gut Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skeleton Ambiguous
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%
trachea Ambiguous
urinary system Ambiguous

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

Adult LacZ

LacZ Images Section

84 Images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

Embryo LacZ

LacZ images wholemount

8 Images

Human diseases caused by Ptpn14 mutations

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

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

The table below shows human diseases associated to Ptpn14 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611

The table below shows human diseases predicted to be associated to Ptpn14 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Angioedema, Hereditary, 6
Facial edema, Angioedema, Edema of the dorsum of hands OMIM:619363
Lymphatic Malformation 11
Pedal edema, Lymphedema OMIM:619401
Angioedema, Hereditary, 4
Facial edema, Laryngeal edema, Angioedema OMIM:619360
Angioedema, Hereditary, 5
Facial edema, Angioedema, Edema of the dorsum of hands OMIM:619361
Follicular Lymphoma
Lymphedema, Mediastinal lymphadenopathy, Splenomegaly, Weight loss, Lymphadenopathy, Pleural effu... ORPHA:545
Angioedema, Hereditary, 8
Facial edema, Laryngeal edema, Angioedema, Edema of the dorsum of hands OMIM:619367
Lymphatic Malformation 9
Tortuous lymphatic vessels, Predominantly lower limb lymphedema OMIM:619319
Melkersson-Rosenthal Syndrome
Facial edema, Facial palsy OMIM:155900
Lymphatic Malformation 3
Lymphedema OMIM:613480
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Angioedema, Hereditary, 7
Facial edema, Angioedema OMIM:619366
Lymphatic Malformation 2
Lymphedema OMIM:611944
Yellow Nail Syndrome
Hypoplasia of lymphatic vessels, Predominantly lower limb lymphedema, Lymphedema OMIM:153300
Lymphatic Malformation 5
Facial edema, Hypoplasia of lymphatic vessels, Predominantly lower limb lymphedema OMIM:153200
Meige Disease
Predominantly lower limb lymphedema, Edema of the dorsum of hands, Facial edema, Periorbital edem... ORPHA:90186
Gjc2-Related Late-Onset Primary Lymphedema
Genital edema, Predominantly lower limb lymphedema, Edema of the dorsum of hands, Facial edema, P... ORPHA:568051
Endometriosis, Susceptibility To, 1
Decreased fertility, Dysmenorrhea, Endometriosis OMIM:131200
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Hypoplasia of the uterus, Azoospermia,... OMIM:601076
Spermatogenic Failure 73
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619937
Hydrops Fetalis
Small for gestational age, Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial eff... ORPHA:1041
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male i... OMIM:619528
Spermatogenic Failure 50
Decreased testicular size, Azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619145
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Lymphedema And Cerebral Arteriovenous Anomaly
Lymphedema OMIM:152900
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Abnormality of t... OMIM:617805
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Hydatidiform Mole
Menometrorrhagia, Enlarged uterus ORPHA:99927
Spermatogenic Failure 32
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:618115
Spermatogenic Failure 71
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:619831
Chylous Ascites
Ascites, Lymphedema ORPHA:1160
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Unilateral renal agenesis, Ureteral atresia, Bilateral renal agenesis, Hyp... OMIM:618845
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Renal agenesis, Ectopic kidney, Azoospermia, Bicornuate uterus, Renal dysplasia, Aplasia/hypoplas... ORPHA:2578
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility OMIM:619672
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Cryptorchidism, Unilateral Or Bilateral
Unilateral cryptorchidism, Cryptorchidism, Renal agenesis OMIM:219050
Solar Urticaria
Periorbital edema, Angioedema, Edema ORPHA:97230
Beaulieu-Boycott-Innes Syndrome
Recurrent urinary tract infections, Premature ovarian insufficiency, Ventricular septal defect, E... OMIM:613680
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Unilateral renal agenesis, Primary amenorrhea, Aplasia of the vagina... OMIM:158330
Lymphatic Malformation 4
Pedal edema, Lymphedema OMIM:615907
Lymphatic Malformation 10
Lymphedema OMIM:619369
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Renal Agenesis
Renal insufficiency, Absent vas deferens, Renal agenesis, Ventricular septal defect, Unilateral r... ORPHA:411709
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Ehlers-Danlos Syndrome, Classic-Like
Quadricuspid aortic valve, Unilateral renal agenesis, Ambiguous genitalia, female, Mitral valve p... OMIM:606408
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Dyspareunia, Partial vaginal septum, Renal agenesis, Abnormal uterine cervix morphology, Dysmenor... ORPHA:3411
Melkersson-Rosenthal Syndrome
Periorbital edema, Facial palsy, Edema, Lymphadenopathy ORPHA:2483
Lymphatic Malformation 1
Hyperkeratosis over edematous areas, Hypoplasia of lymphatic vessels, Predominantly lower limb ly... OMIM:153100
Lymphatic Malformation 6
Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Periorbital edema,... OMIM:616843
Spermatogenic Failure 20
Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Male infertility OMIM:617593
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, A... OMIM:301099
Isochromosomy Yp
Ambiguous genitalia, Azoospermia, Decreased testicular size, Male infertility ORPHA:98797
Melorheostosis
Failure to thrive, Lymphedema ORPHA:2485
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Intestinal lymphangiectasia, Pericardial lymphangiectasia, Pulmonary lymphangiectasia, Lymphedema OMIM:616006
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Intellectual Developmental Disorder, Autosomal Recessive 71
Cryptorchidism, Micropenis, Ventricular septal defect, Unilateral renal agenesis OMIM:618504
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, H... ORPHA:3109
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Predominantly lower limb lymphedema, Palpebral edema, Abnormality of the lymphatic system, Hydrop... ORPHA:69735
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Crossed fused renal ectopia, Ambiguous genitalia, Ventricular septal defect, Hypoplastic right he... OMIM:618142
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Chronic kidney disease, Hypoplastic left heart, Renal hypoplasia, Unilateral renal agenesis OMIM:617661
Inverted Duplicated Chromosome 15 Syndrome
Ventricular septal defect, Unilateral renal agenesis, Precocious puberty, Cryptorchidism, Gonadal... ORPHA:3306
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Lissencephaly 2
Lymphedema OMIM:257320
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Recurrent urinary tract infections, Premature ovarian insufficiency, Hypospadias, Abnormality of ... ORPHA:363444
Ethanolaminosis
Cardiomegaly OMIM:227150
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Cholestasis-Lymphedema Syndrome
Splenomegaly, Lymphedema OMIM:214900
Spermatogenic Failure 29
Non-obstructive azoospermia, Male infertility, Immotile sperm OMIM:618091
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Nephrolithiasis, Obstructive azoospermia OMIM:301060
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Septate vagina, Uterus didelphys... ORPHA:2237
Spermatogenic Failure 25
Non-obstructive azoospermia, Male infertility, Decreased testicular size, Cryptozoospermia OMIM:617960
Syndromic Recessive X-Linked Ichthyosis
Renal insufficiency, Unilateral renal agenesis, Cryptorchidism, Hypogonadism, Testicular seminoma ORPHA:281090
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Absent s... OMIM:301059
Kaposi Sarcoma
Generalized lymphadenopathy, Abnormality of the spleen, Weight loss, Lymphedema ORPHA:33276
Fountain Syndrome
Facial edema OMIM:229120
Spermatogenic Failure 22
Non-obstructive azoospermia, Male infertility, Cryptozoospermia OMIM:617706
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Hypogonadotropic hypogonadism, Unilateral renal agenesis, Cryptorchidism, Primary amenorrhea, Mic... OMIM:244200
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect, Unilateral renal agenesis OMIM:601355
Microphthalmia, Syndromic 12
Ventricular septal defect, Cryptorchidism, Hypoplastic left atrium, Bicornuate uterus, Neonatal d... OMIM:615524
Isochromosomy Yq
Decreased testicular size, Male infertility, Gonadal tissue inappropriate for external genitalia ... ORPHA:98798
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... OMIM:610805
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Caudal Duplication Anomaly
Ureteral duplication, Uterus didelphys OMIM:607864
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 42
Male infertility, Coiled sperm flagella, Absent sperm flagella, Tapered sperm head, Microcephalic... OMIM:618745
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Dohle Bodies And Leukemia
Lymphedema OMIM:223350
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Ventricular septal defect, Unilateral renal agenesis, Cryptorchidism, Renal hypoplasia, Abnormal ... OMIM:618494
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal agenesis, External genital hypoplasia, Stage 5 chronic kidney disease,... OMIM:615993
Campomelia, Cumming Type
Polysplenia, Lymphedema OMIM:211890
Rudiger Syndrome
Ovarian cyst, Micropenis, Bicornuate uterus, Ureterovesical stenosis OMIM:268650
Proteasome-Associated Autoinflammatory Syndrome 2
Periorbital edema, Failure to thrive, Lymphadenopathy OMIM:618048
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... OMIM:137920
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Small for gestational age, Decrea... ORPHA:1916
Spermatogenic Failure 11
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Spermatogenic Failure 79
Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:620196
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Lymphatic Malformation 12
Fetal ascites, Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema OMIM:620014
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Bladder Exstrophy And Epispadias Complex
Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Bladder exstrophy, Bifid cl... OMIM:600057
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Unilateral renal agenesis OMIM:235740
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Obesity, Abnormality of the uteru... OMIM:194072
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Male infertility, Immotile sperm OMIM:608653
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Kallmann Syndrome With Spastic Paraplegia
Eunuchoid habitus, Hypogonadotropic hypogonadism, Unilateral renal agenesis, Cryptorchidism, Micr... OMIM:308750
Deafness-Lymphedema-Leukemia Syndrome
Splenomegaly, Weight loss, Lymphadenopathy, Lymphedema ORPHA:3226
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Mild postnatal g... OMIM:265300
American Trypanosomiasis
Periorbital edema, Splenomegaly, Edema, Lymphadenopathy ORPHA:3386
Oligomeganephronia
Renal insufficiency, Proteinuria, Small for gestational age, Unilateral renal agenesis, Secundum ... ORPHA:2260
Acute Monoblastic/Monocytic Leukemia
Periorbital edema, Cervical lymphadenopathy, Weight loss ORPHA:514
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Tongue edema, Palpebral edema, Pharyngeal edema, Facial edema, Laryngeal edema, Angioedema ORPHA:100057
Autosomal Recessive Primary Microcephaly
Vesicoureteral reflux, Unilateral renal agenesis ORPHA:2512
Premature Ovarian Failure 3
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea OMIM:608996
Lacrimal Duct Defect
Periorbital edema OMIM:149700
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Small for gestational age, Cardiomegaly, Cryptorchidism, Perimembranous ventricular ... OMIM:620135
Cinca Syndrome
Hepatosplenomegaly, Lymphadenopathy, Lymphedema OMIM:607115
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Proteinuria, Septate vagina, Chronic kidney disease, Thickened glomerular basement membrane, Prox... OMIM:146255
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Eunuchoid habitus, Small scrotum, Hypogonadotropic hypogonadism, Unilateral renal agenesis, Crypt... OMIM:308700
Williams-Beuren Region Duplication Syndrome
Small for gestational age, Unilateral renal agenesis, Cryptorchidism, Failure to thrive, Hydronep... OMIM:609757
Ovarian Dysgenesis 2
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh... OMIM:300510
Cholestasis-Lymphedema Syndrome
Splenomegaly, Abnormality of the lymphatic system, Lymphedema ORPHA:1414
Lymphedema, Primary, With Myelodysplasia
Lymphedema OMIM:614038
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Renal insufficiency, Ambiguous genitalia, Renal agenesis, Unilateral renal agenesis, Ectopic kidn... OMIM:617641
Spermatogenic Failure 17
Male infertility OMIM:617214
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:618078
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Holzgreve Syndrome
Renal agenesis, Hypoplastic left heart, Renal hypoplasia OMIM:236110
Burn-Mckeown Syndrome
Atrial septal defect, Ventricular septal defect, Renal hypoplasia, Unilateral renal agenesis OMIM:608572
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second... OMIM:617565
Premature Ovarian Failure 13
Hypoplasia of the uterus, Oligomenorrhea, Female infertility, Amenorrhea OMIM:617442
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ... OMIM:612965
Angioedema, Hereditary, 1
Intestinal edema, Pharyngeal edema, Periorbital edema, Laryngeal edema, Angioedema OMIM:106100
Premature Ovarian Failure 7
Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplasia of the uter... OMIM:612964
Cronkhite-Canada Syndrome
Splenomegaly, Cachexia, Lymphedema ORPHA:2930
Prune Belly Syndrome
Multicystic kidney dysplasia, Recurrent urinary tract infections, Ventricular septal defect, Rena... ORPHA:2970
Spermatogenic Failure 64
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... OMIM:619696
Emanuel Syndrome
Recurrent urinary tract infections, Ventricular septal defect, Truncus arteriosus, Unilateral ren... OMIM:609029
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Polyhydramnios, Lymphedema OMIM:618154
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Primary amenorrhea... ORPHA:168563
Bifid Nose With Or Without Anorectal And Renal Anomalies
Renal agenesis, Unilateral renal agenesis, Precocious puberty, Ebstein anomaly of the tricuspid v... OMIM:608980
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Greenberg Dysplasia
Lymphedema ORPHA:1426
Attrv30M Amyloidosis
Cardiomegaly, Weight loss, Cardiomyopathy, Impotence, Nephropathy, Abnormal renal physiology ORPHA:85447
Milroy Disease
Predominantly lower limb lymphedema, Pedal edema, Lymphedema ORPHA:79452
Denys-Drash Syndrome
Diffuse mesangial sclerosis, True hermaphroditism, Septate vagina, Gonadal tissue inappropriate f... OMIM:194080
Angioedema, Hereditary, 3
Facial edema, Angioedema, Intestinal edema, Pharyngeal edema OMIM:610618
Emanuel Syndrome
Ventricular septal defect, Truncus arteriosus, Unilateral renal agenesis, Cryptorchidism, Renal h... ORPHA:96170
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ... OMIM:612310
Caudal Duplication
Abnormal penis morphology, Ureteral duplication, Renal hypoplasia/aplasia, Cryptorchidism, Uterus... ORPHA:1756
Genetic Steroid-Resistant Nephrotic Syndrome
Periorbital edema, Edema ORPHA:656
Lissencephaly 7 With Cerebellar Hypoplasia
Lymphedema OMIM:616342
Renal And Mullerian Duct Hypoplasia
Renal hypoplasia, Horseshoe kidney, Anteriorly displaced urethral meatus, Hydrocele testis, Aplas... OMIM:266810
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Mild postnatal growth retardation, Nonimmune hydrops fetalis, Lymph... OMIM:235510
46,Xy Sex Reversal 11
Abnormal internal genitalia, Primary amenorrhea, Vanishing testis, Aplasia of the uterus, Gonadal... OMIM:273250
Renal Hypodysplasia/Aplasia 1
Renal dysplasia, Proteinuria, Primary amenorrhea, Bilateral renal agenesis, Bicornuate uterus, Va... OMIM:191830
Lymphedema-Hypoparathyroidism Syndrome
Pulmonary lymphangiectasia, Lymphedema OMIM:247410
Clapo Syndrome
Lymphangioma, Failure to thrive, Lymphedema ORPHA:168984
Persistent Mullerian Duct Syndrome, Types I And Ii
Bilateral cryptorchidism, Male infertility OMIM:261550
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Ventricular septal defect, Unilateral renal agenesis, Splenomegaly, Proximal tubulo... OMIM:614576
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphedema ORPHA:1116
Thymic Carcinoma
Palpebral edema, Edema, Neoplasm of the thymus, Mediastinal lymphadenopathy, Weight loss ORPHA:99868
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Recurrent urinary tract infections, Multicystic kidney dysplasia, Unil... OMIM:614527
Omphalocele-Cleft Palate Syndrome, Lethal
Bicornuate uterus OMIM:258320
Alpha-N-Acetylgalactosaminidase Deficiency
Lymphedema ORPHA:3137
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Periodic Fever, Familial, Autosomal Dominant
Periorbital edema, Cervical lymphadenopathy OMIM:142680
Chromomycosis
Lymphangiectasis, Predominantly lower limb lymphedema, Edema, Lymphedema ORPHA:182
Cantu Syndrome
Pericardial effusion, Large for gestational age, Lymphedema OMIM:239850
Radial-Renal Syndrome
Unilateral renal agenesis, Ectopic kidney OMIM:179280
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Lymphedema ORPHA:79279
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the uterus, Hypo... OMIM:614841
Klippel-Trenaunay-Weber Syndrome
Lymphangioma, Lymphedema OMIM:149000
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Oligohydramnios, Hydrops fetalis, Lymphedema OMIM:601927
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the uterus, Azoo... OMIM:614837
Lumbar Syndrome
Bifid scrotum, Ambiguous genitalia, Renal agenesis, Hypospadias, Bifid uterus, Cryptorchidism, Hy... ORPHA:83628
Proteasome-Associated Autoinflammatory Syndrome 3
Periorbital edema, Splenomegaly, Failure to thrive, Lymphadenopathy OMIM:617591
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
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Palpebral edema OMIM:607823
Al-Gazali-Bakalinova Syndrome
Lymphedema OMIM:607131
Tenosynovial Giant Cell Tumor
Joint swelling, Lymphedema ORPHA:66627
Meacham Syndrome
Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Septate vagina, Male pseudohermap... OMIM:608978
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Unilateral renal agenesis, Secundum atrial septal defect, Cryptorchidism, Vesicoureteral reflux, ... OMIM:619951
Microcephaly 20, Primary, Autosomal Recessive
Renal hypoplasia, Ureteral agenesis, Hypoplasia of the uterus, Bilateral renal agenesis, Hyperech... OMIM:617914
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Palpebral edema, Nonimmune hydrops fetalis, Pulmonary lymphangiectasia, Lymphedema OMIM:137940
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Male infertility, Hypospadias, Bilateral... ORPHA:90797
Leydig Cell Hypoplasia
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... ORPHA:755
Microphthalmia, Syndromic 9
Renal malrotation, Ventricular septal defect, Cryptorchidism, Hypoplastic left atrium, Renal hypo... OMIM:601186
German Syndrome
Lymphedema ORPHA:2077
Ring Chromosome 22 Syndrome
Pleural effusion, Edema, Lymphedema ORPHA:1446
Short Stature, Microcephaly, And Endocrine Dysfunction
Unilateral renal agenesis, Ectopic kidney, Cryptorchidism, Dilated cardiomyopathy, Renal hypoplas... OMIM:616541
Yellow Nail Syndrome
Hypoplasia of lymphatic vessels, Lymphedema ORPHA:662
Perrault Syndrome 4
Premature ovarian insufficiency, Obesity, Secondary amenorrhea, Primary amenorrhea, Hypoplasia of... OMIM:615300
Coach Syndrome 1
Hepatomegaly, Unilateral renal agenesis, Splenomegaly, Multiple small medullary renal cysts, Stag... OMIM:216360
Premature Ovarian Failure 18
Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Hypoplasia of the ... OMIM:619203
Duplication Of Urethra
Urethral stricture, Bifid scrotum, Anuria, Urinary incontinence, Rectourethral fistula, Epispadia... ORPHA:237
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Ventricular septal defect, Small for gestational age, Unilateral renal agenesis, Cryptorchidism, ... OMIM:620024
Chopra-Amiel-Gordon Syndrome
Unilateral renal agenesis OMIM:619504
Idiopathic Steroid-Resistant Nephrotic Syndrome
Periorbital edema, Edema ORPHA:567548
Braddock Syndrome
Failure to thrive, Unilateral renal agenesis ORPHA:52047
Maternal Uniparental Disomy Of Chromosome X
Predominantly lower limb lymphedema ORPHA:261519
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Polyhydramnios, Thyroid lymphangiectasia, Lymphedema, Splenomegaly, Pancreatic lymphangiectasis, ... OMIM:235255
Exstrophy-Epispadias Complex
Bifid scrotum, Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicouretera... ORPHA:322
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Primary amenorrhea OMIM:618117
Mucopolysaccharidosis Type 7
Splenomegaly, Ascites, Hydrops fetalis, Lymphedema ORPHA:584
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Unilateral renal agenesis OMIM:206750
Donnai-Barrow Syndrome
Bicornuate uterus, Ventricular septal defect, Abnormality of the uterus, Proteinuria ORPHA:2143
Müllerian Aplasia And Hyperandrogenism
Renal agenesis, Obesity, Primary amenorrhea, Hypoplasia of the uterus, Abnormal vagina morphology... ORPHA:247768
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth
Lymphedema OMIM:613089
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Meckel Syndrome 12
Ureteral hypoplasia, Renal hypoplasia, Hypoplasia of the uterus, Bilateral renal agenesis, Vagina... OMIM:616258
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Lymphedema OMIM:152950
Monosomy 18P
Lymphedema ORPHA:1598
Sacral Agenesis With Vertebral Anomalies
Neonatal death, Unilateral renal agenesis, Persistent cloaca OMIM:615709
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Hypoplasia of the ovary, Premature ovarian insufficiency, Primary ameno... OMIM:619665
Vaginal Atresia
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ... ORPHA:65681
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Primary amenorrhea OMIM:617690
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... OMIM:620356
Diamond-Blackfan Anemia 11
Bicuspid aortic valve, Unilateral renal agenesis OMIM:614900
Fraser Syndrome 2
Renal agenesis, Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Aplasia of the bl... OMIM:617666
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Infantile Systemic Hyalinosis
Failure to thrive, Aplasia/Hypoplasia of the thymus, Lymphedema ORPHA:2176
Perrault Syndrome 3
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:614129
Waldenström Macroglobulinemia
Periorbital edema, Splenomegaly, Pedal edema, Lymphadenopathy, Pleural effusion ORPHA:33226
Juvenile Nasopharyngeal Angiofibroma
Facial edema ORPHA:289596
Hogue-Janssen Syndrome 2
Unilateral renal agenesis OMIM:616362
Hand-Foot-Genital Syndrome
Recurrent urinary tract infections, Ventricular septal defect, Hypospadias, Abnormality of the ur... ORPHA:2438
Takenouchi-Kosaki Syndrome
Hypospadias, Unilateral renal agenesis, Cryptorchidism, Abnormal cardiac septum morphology, Pulmo... OMIM:616737
Leopard Syndrome 1
Hypospadias, Unilateral renal agenesis, Delayed menarche, Complete atrioventricular canal defect,... OMIM:151100
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Hypoplasia of penis, Uterus didelphys ORPHA:2491
Methylmalonic Acidemia With Homocystinuria Type Cblf
Methylmalonic aciduria, Failure to thrive, Unilateral renal agenesis, Abnormal heart morphology ORPHA:79284
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidi... ORPHA:99429
46,Xy Sex Reversal 4
Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hydronephrosis, Gonadal dysgenesis, Hypo... OMIM:154230
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
Combined Oxidative Phosphorylation Deficiency 8
Neonatal death, Hypertrophic cardiomyopathy, Failure to thrive, Cardiomegaly OMIM:614096
Normosmic Congenital Hypogonadotropic Hypogonadism
Eunuchoid habitus, Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermi... ORPHA:432
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Multiple Sulfatase Deficiency
Periorbital edema, Splenomegaly OMIM:272200
20Q11.2 Microduplication Syndrome
Periorbital edema, Underdeveloped supraorbital ridges, Palpebral edema ORPHA:363659
Shashi-Pena Syndrome
Atrial septal defect, Unilateral renal agenesis OMIM:617190
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o... ORPHA:325124
7Q11.23 Microduplication Syndrome
Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Cryptorchidism, Obesity, Enure... ORPHA:96121
Branchiootorenal Syndrome 1
Renal malrotation, Unilateral renal agenesis, Renal steatosis, Polycystic kidney dysplasia, Vesic... OMIM:113650
Myoectodermal Gonadal Dysgenesis Syndrome
Small for gestational age, Unilateral renal agenesis, Hypoplastic labia majora, Hypoplasia of the... OMIM:618419
Hennekam Syndrome
Mild postnatal growth retardation, Lymphedema, Pericardial effusion, Splenomegaly, Pulmonary lymp... ORPHA:2136
Familial Exudative Vitreoretinopathy
Macular edema, Lymphedema ORPHA:891
Townes-Brocks Syndrome 2
Hypospadias, Bifid uterus, Rectovaginal fistula, Vesicoureteral reflux, Crossed fused renal ectopia OMIM:617466
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Abnormality of male external genitalia, Ambiguous genitalia, Hypospadias, Abn... ORPHA:95699
Campomelia, Cumming Type
Oligohydramnios, Hydrops fetalis, Lymphedema ORPHA:1318
Dahlberg-Borer-Newcomer Syndrome
Lymphedema ORPHA:1563
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Renal insufficiency, Renal agenesis, Mitral atresia, Ectopic kidney, Horseshoe kidney, Abnormal c... ORPHA:140952
Spermatogenic Failure 38
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... OMIM:618433
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Hypoplasia of the bladder, Hydroureter, Bicuspid aortic valve, Small for gestational age, Septate... OMIM:300707
Pseudotrisomy 13 Syndrome
Ventricular septal defect, Dextrocardia, Renal agenesis, Complete atrioventricular canal defect, ... OMIM:264480
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Muscular ventricular septal defect, Renal agenesis, Unilateral renal agenesis OMIM:619227
Nasolacrimal Duct Cyst
Periorbital edema ORPHA:141083
Gillessen-Kaesbach-Nishimura Syndrome
Bicornuate uterus, Polycystic kidney dysplasia, Abnormal heart morphology OMIM:263210
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Failure to thrive, Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Small for g... ORPHA:464311
Penoscrotal Transposition
Renal agenesis, Hypospadias, Abnormal external genitalia, Abnormality of the urethra, Penoscrotal... ORPHA:2842
Noonan Syndrome 13
Lymphedema OMIM:619087
Capillary Malformation-Arteriovenous Malformation
Nonimmune hydrops fetalis, Facial capillary hemangioma, Lymphedema, Abnormality of the lymphatic ... ORPHA:137667
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Cardiomegaly OMIM:300886
46,Xx Sex Reversal 1
True hermaphroditism, Hypospadias, Ovotestis, Sex reversal, Azoospermia, Bicornuate uterus, Clito... OMIM:400045
Klippel-Feil Syndrome 1, Autosomal Dominant
Abnormality of the kidney, Unilateral renal agenesis OMIM:118100
Lymphatic Filariasis
Predominantly lower limb lymphedema, Lymphedema, Lymphadenitis, Abnormality of the lymphatic syst... ORPHA:2035
Neurooculorenal Syndrome
Hypoplasia of the bladder, Dextrocardia, Unilateral renal agenesis, Cryptorchidism, Stage 2 chron... OMIM:620305
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Dysmenorrhea, Decreased fe... ORPHA:90796
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Polyhydramnios, Lymphedema, Postnatal growth retardation, Splenomegaly, Hepatosplenomegaly, Chylo... OMIM:613563
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Hypomelia With Mullerian Duct Anomalies
Uterus didelphys, Longitudinal vaginal septum OMIM:146160
Ovarian Fibrothecoma
Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Gonadal calcification, Abnormalit... ORPHA:314478
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Abnormal renal morphology, Oligozoospermia, Obstructive az... ORPHA:48
Fanconi Anemia, Complementation Group L
Aplasia of the uterus, Micropenis, Renal hypoplasia, Unilateral renal agenesis OMIM:614083
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Renal cyst, Atrial septal defect, Micropenis, Penoscrotal hypospadi... OMIM:270400
Hyperparathyroidism, Transient Neonatal
Unilateral renal agenesis, Enlarged kidney, Ovarian cyst OMIM:618188
Spermatogenic Failure 15
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:616950
Dyrk1A-Related Intellectual Disability Syndrome
Failure to thrive, Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Small for g... ORPHA:464306
Lymphedema-Distichiasis Syndrome
Chylothorax, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphedema OMIM:153400
Oeis Complex
Duplicated collecting system, Hydroureter, Renal agenesis, Bifid uterus, Epispadias, Vesicovagina... OMIM:258040
Interstitial Cystitis
Dyspareunia, Abnormal labia morphology, Abnormality of the menstrual cycle, Abnormality of the ur... ORPHA:37202
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea OMIM:277000
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Trichinellosis
Facial edema, Periorbital edema, Facial palsy, Edema ORPHA:863
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Cardiomegaly ORPHA:88643
Distal Xq28 Microduplication Syndrome
Predominantly lower limb lymphedema, Upper eyelid edema ORPHA:293939
Lujo Hemorrhagic Fever
Facial edema, Periorbital edema, Cerebral edema, Generalized edema ORPHA:319213
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... ORPHA:251510
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Splenomegaly, Nephrotic syndrome, Failure to thrive OMIM:269920
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... ORPHA:2975
Acrodysostosis 1 With Or Without Hormone Resistance
Small for gestational age, Unilateral renal agenesis, Cryptorchidism, Irregular menstruation, Hyp... OMIM:101800
Phelan-Mcdermid Syndrome
Palpebral edema, Prominent supraorbital ridges, Lymphedema OMIM:606232
Congenital Analbuminemia
Small for gestational age, Edema, Facial edema, Obesity, Pedal edema, Oligohydramnios ORPHA:86816
Satoyoshi Syndrome
Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the uterus, Abnormality of the ... ORPHA:3130
Meacham Syndrome
Hypoplasia of penis, Crossed fused renal ectopia, Ventricular septal defect, Ambiguous genitalia,... ORPHA:3097
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism OMIM:614842
Spermatogenic Failure 2
Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia OMIM:108420
Blepharochalasis, Superior
Blepharochalasis OMIM:110000
Matthew-Wood Syndrome
Cryptorchidism, Renal hypoplasia, Horseshoe kidney, Abnormality of the uterus, Vesicoureteral ref... ORPHA:2470
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Male infertility, Hypospadias, Precocious puberty in females, Bilateral cryptorchi... ORPHA:90793
Lymphangioleiomyomatosis
Lymphedema, Abnormality of the lymphatic system, Chylopericardium, Lymphadenopathy, Chylothorax, ... ORPHA:538
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Aplasia of the vagina, Unilateral renal agenesis ORPHA:457284
Serkal Syndrome
Abnormal penis morphology, Hypoplasia of the bladder, Renal agenesis, Ventricular septal defect, ... ORPHA:139466
Omodysplasia 2
Dyspareunia, Hypospadias, Cryptorchidism, Uterus didelphys, Clitoral hypoplasia, Labial hypoplasi... OMIM:164745
Hemochromatosis, Type 1
Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Cardiomyopathy, Azoosper... OMIM:235200
Hand-Foot-Genital Syndrome
Bifid scrotum, Renal insufficiency, Hypospadias, Uterus didelphys, Micropenis, Pyelonephritis, Ch... OMIM:140000
X-Linked Intellectual Disability, Shashi Type
Palpebral edema, Prominent supraorbital ridges, Obesity ORPHA:85286
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, A... ORPHA:93111
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Unilateral renal agenesis ORPHA:1064
Cardiac-Urogenital Syndrome
Bifid scrotum, Patent urachus, Scimitar anomaly, Atrial septal defect, Micropenis, Mesocardia, Pe... OMIM:618280
Igg4-Related Submandibular Gland Disease
Facial edema, Periorbital edema, Xerostomia, Lymphadenopathy ORPHA:449432
Spermatogenic Failure 6
Globozoospermia, Decreased acrosin in sperm head, Male infertility OMIM:102530
Nager Syndrome
Unilateral renal agenesis ORPHA:245
Autosomal Recessive Spastic Paraplegia Type 11
Overweight, Obesity, Lymphedema ORPHA:2822
Spermatogenic Failure 75
Non-obstructive azoospermia, Male infertility OMIM:619949
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Recurrent urinary tract infections, Ventricular septal defect, Abnormal pulmonary valve morpholog... ORPHA:268261
Secondary Intestinal Lymphangiectasia
Intestinal lymphedema, Edema, Lymphedema, Chylous ascites, Anasarca, Pleural effusion ORPHA:90363
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:620103
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f... OMIM:618652
Cardiofaciocutaneous Syndrome
Underdeveloped supraorbital ridges, Failure to thrive in infancy, Lymphedema ORPHA:1340
Seckel Syndrome 7
Hypoplasia of the uterus, Primary amenorrhea OMIM:614851
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Unilateral renal agenesis, Stillbirth, Abnormal cardiac septum morphology, Hydronephrosis, Single... OMIM:308050
Cutis Laxa, Autosomal Dominant 3
Unilateral renal agenesis OMIM:616603
Amed Syndrome, Digenic
Hypoplasia of the uterus, Failure to thrive OMIM:619151
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
Thrombocytopenia-Absent Radius Syndrome
Abnormality of the kidney, Horseshoe kidney, Abnormal cardiac septum morphology, Aplasia of the u... ORPHA:3320
Satoyoshi Syndrome
Hypoplasia of the uterus, Amenorrhea OMIM:600705
Cutis Laxa, Autosomal Recessive, Type Ic
Periorbital edema, Ascites, Hypoplasia of the thymus, Accessory spleen OMIM:613177
Fabry Disease
Lymphedema OMIM:301500
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Hypospadias, Unilateral renal agenesis, Cryptorchidism, Microphallus, Severe failure to thrive, A... ORPHA:468631
Neuraminidase Deficiency
Facial edema, Splenomegaly, Ascites, Hydrops fetalis OMIM:256550
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
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
Acrofacial Dysostosis 1, Nager Type
Tetralogy of Fallot, Ventricular septal defect, Bicornuate uterus, Unilateral renal agenesis OMIM:154400
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hy... OMIM:212140
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Atrial septal defect, Large for gestational age, Unilateral renal agenesis, Shawl scrotum OMIM:213980
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Ectodermal Dysplasia And Immunodeficiency 1
Lymphedema OMIM:300291
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Cockayne Syndrome Type 3
Hepatomegaly, Renal insufficiency, Neurogenic bladder, Hydroureter, Unilateral renal agenesis, Sp... ORPHA:90324