Gene Summary

Name:
activin receptor IIA
Synonyms:
ActRIIa,  tActRII,  Acvr2

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
anophthalmia Acvr2atm1.1(KOMP)Vlcg HOM E15.5 0.00
microphthalmia Acvr2atm1.1(KOMP)Vlcg HOM E15.5 0.00
decreased neutrophil cell number Acvr2atm1.1(KOMP)Vlcg HET Early adult 1.04×10-06
abnormal embryo size Acvr2atm1.1(KOMP)Vlcg HOM E15.5 0.00
decreased eosinophil cell number Acvr2atm1.1(KOMP)Vlcg HET Early adult 1.93×10-05
increased thigmotaxis Acvr2atm1.1(KOMP)Vlcg HET Early adult 9.86×10-05
abnormal behavior Acvr2atm1.1(KOMP)Vlcg HET Early adult 9.86×10-05
preweaning lethality, incomplete penetrance Acvr2atm1.1(KOMP)Vlcg HOM   Early adult 0.00
abnormal craniofacial morphology Acvr2atm1.1(KOMP)Vlcg HOM E15.5 0.00

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Aorta  Section images heterozygote 100% (2 of 2)
Brain  Section images heterozygote 100% (2 of 2)
Brown adipose tissue  Section images heterozygote 100% (1 of 1)
Eye  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 100% (2 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 100% (2 of 2)
Cerebral cortex N/A heterozygote 100% (2 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote Ambiguous
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 50% (1 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 50% (1 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 50% (1 of 2)

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 100% (2 of 2)
Brain N/A heterozygote 50% (2 of 4)
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
Ear N/A heterozygote 50% (2 of 4)
Embryo N/A heterozygote 50% (2 of 4)
Eye N/A heterozygote 50% (2 of 4)
Footplate N/A heterozygote 50% (2 of 4)
Forebrain N/A heterozygote 50% (2 of 4)
Forelimb N/A heterozygote 50% (2 of 4)
Gut N/A heterozygote 100% (2 of 2)
Handplate N/A heterozygote 50% (2 of 4)
Head N/A heterozygote 50% (2 of 4)
Heart N/A heterozygote 50% (2 of 4)
Hindbrain N/A heterozygote 50% (2 of 4)
Hindlimb N/A heterozygote 50% (2 of 4)
Liver N/A heterozygote 50% (2 of 4)
Lung N/A heterozygote 50% (2 of 4)
Mandibular process N/A heterozygote 50% (2 of 4)
Maxillary process N/A heterozygote 50% (2 of 4)
Midbrain N/A heterozygote 50% (2 of 4)
Nose N/A heterozygote 100% (2 of 2)
Oral cavity N/A heterozygote 50% (2 of 4)
Skeleton N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 50% (2 of 4)
Spinal cord N/A heterozygote 100% (2 of 2)
Tail somite N/A heterozygote 50% (2 of 4)
Tail N/A heterozygote 50% (2 of 4)
Trachea N/A heterozygote 100% (2 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 0.68% (4 of 584)
aorta 0.17% (1 of 584)
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
esophagus 1.72% (7 of 408)
eye 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
urinary bladder 0.0%
uterus 0.0%
vascular system 0.0%
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 1.59% (1 of 63)
brain 1.18% (6 of 507)
central nervous system ganglion 1.39% (1 of 72)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
gut 1.72% (1 of 58)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
nose 1.3% (1 of 77)
oral cavity 0.2% (1 of 502)
skeleton 1.3% (1 of 77)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)
trachea 1.72% (1 of 58)
urinary system 1.72% (1 of 58)

Associated Images

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

Embryo LacZ

LacZ images wholemount

40 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

Eye Morphology

Images Slit Lamp

7 Images

Adult LacZ

LacZ Images Section

18 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

Gross Pathology and Tissue Collection

Images

12 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

Gross Morphology Embryo E14.5-E15.5

Images

8 Images

Combined SHIRPA and Dysmorphology

Images

1 Images

Eye Morphology

Images Ophthalmoscopy

2 Images

Human diseases caused by Acvr2a 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 Acvr2a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Testicular Torsion
Torsion of appendix of testis, Testicular torsion OMIM:187400
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Hypogonadotropic Hypogonadism 24 Without Anosmia
Infertility, Azoospermia, Primary amenorrhea, Decreased testicular size, Hypogonadism OMIM:229070
Isochromosomy Yp
Ambiguous genitalia, Azoospermia, Decreased testicular size, Male infertility, Primary gonadal in... ORPHA:98797
Partial Chromosome Y Deletion
Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Male infert... ORPHA:1646
Orofacial Cleft 15
Cryptorchidism, Agenesis of lateral incisor, Sparse eyebrow, Sparse eyelashes, Upslanted palpebra... OMIM:616788
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Isochromosomy Yq
Ambiguous genitalia, Azoospermia, Gonadal tissue inappropriate for external genitalia or chromoso... ORPHA:98798
Spermatogenic Failure 35
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618153
Spermatogenic Failure 18
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617576
Spermatogenic Failure 20
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617593
Spermatogenic Failure 19
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617592
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Spermatogenic Failure 25
Decreased testicular size, Azoospermia, Cryptozoospermia OMIM:617960
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Secondary amenorrhea, Premature ovarian insufficiency OMIM:619245
Neutropenia, Severe Congenital, X-Linked
Neutropenia OMIM:300299
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Azoospermia, Spermatogenesis maturation arrest OMIM:619145
Spermatogenic Failure 46
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... OMIM:619095
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Spermatogenic Failure 11
Infertility, Abnormal sperm morphology OMIM:615081
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemi... OMIM:619326
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... OMIM:301059
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Azoospermia, Mi... OMIM:308700
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 43
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Absent sperm axoneme centra... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619094
Severe Primary Trimethylaminuria
Negative affectivity, Low self esteem, Aggressive behavior, Depression, Emotional lability, Anxiety ORPHA:468726
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... OMIM:618664
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Spermatogenic Failure 51
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Micro... OMIM:619177
Spermatogenic Failure 54
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... OMIM:619379
Ovarian Dysgenesis 2
Gonadal hypoplasia, Abnormality of the uterus, Hypergonadotropic hypogonadism, Hypoplasia of the ... OMIM:300510
Oligodontia
Enamel hypoplasia, Oligodontia, Agenesis of maxillary lateral incisor, Hypoplasia of teeth, Oral ... ORPHA:99798
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility OMIM:619102
Trimethylaminuria
Depression, Neutropenia, Anemia, Splenomegaly OMIM:602079
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Micropenis, Dec... OMIM:308750
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Increased circulating gonadotropin level, Azoospermia, Non-obstructive azoospermia, Obstructive a... ORPHA:399805
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia OMIM:619108
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Infertility, Abnormal sperm morphology OMIM:608653
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Bilateral microphthalmos, Anophthalmia OMIM:611638
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Male hypogonadism, Hyperplasia of the Leydig cells, Azoospermia, Bilater... ORPHA:52901
Spermatogenic Failure 39
Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla... OMIM:618643
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia OMIM:615214
Cleft Lip/Palate
Agenesis of lateral incisor, Abnormal number of permanent teeth, Oral cleft, Peg-shaped maxillary... ORPHA:199306
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Spermatogenic Failure 42
Absent sperm flagella, Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coil... OMIM:618745
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,... ORPHA:529970
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Cryptorchidism, Ankyloblepharon, Non-midline cleft lip, Tooth agenesis, Cleft palate ORPHA:1074
Ring Chromosome Y Syndrome
Cryptorchidism, Ambiguous genitalia, Male hypogonadism, Azoospermia, Ambiguous genitalia, male, U... ORPHA:261529
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Increased circulating gonadotropin level, Non-obstructive azoospermia, Decreased... ORPHA:399808
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Spermatogenic Failure 24
Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coiled sperm flagella, Shor... OMIM:617959
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Nanophthalmos 4
Microphthalmia OMIM:615972
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility OMIM:618670
Young Syndrome
Decreased fertility, Obstructive azoospermia ORPHA:3471
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Cryptorchidism, Azoospermia, Hypoplasia of the uterus, Primary amenorrhea, Hypogonadotropic hypog... OMIM:614837
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Microphthalmia, Isolated 3
Microphthalmia, Anophthalmia OMIM:611038
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... OMIM:202700
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Primary amenorrhea, Sec... OMIM:612964
Spermatogenic Failure 2
Azoospermia, Oligospermia OMIM:108420
Spermatogenic Failure 7
Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia OMIM:612997
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Hypogonadism, Ptosis, Abnormality of the ovary ORPHA:1875
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Lymphopenia, Neutropenia OMIM:614868
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Streak ovary, Primary a... OMIM:612310
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia, Neural tube defect OMIM:600776
Ovarian Dysgenesis 7
Delayed puberty, Hypoplasia of the uterus, Primary amenorrhea OMIM:618117
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia OMIM:616022
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Azoospermia, Hyp... OMIM:612885
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Cryptorchidism, Decreased testicular size, Hypoplasia of the uterus, Decreased circulating gonado... OMIM:614841
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Tetrasomy X
Upslanted palpebral fissure, Epicanthus, Premature ovarian insufficiency, Abnormality of the dent... ORPHA:9
Premature Ovarian Failure 2B
Delayed puberty, Premature ovarian insufficiency, Primary amenorrhea, Abnormality of the dentition OMIM:300604
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Hypogonadotropic Hypogonadism 23 Without Anosmia
Androgen insufficiency, Ovarian cyst, Abnormality of the Leydig cells, Oligomenorrhea, Micropenis... OMIM:228300
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Microphthalmia, Isolated, With Coloboma 6
Optic disc hypoplasia, Hypoplasia of the fovea, Bilateral microphthalmos OMIM:613703
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Endometriosis, Susceptibility To, 1
Decreased fertility, Endometriosis, Dysmenorrhea OMIM:131200
Perrault Syndrome 6
Irregular menstruation, Hypoplasia of the uterus, Streak ovary, Primary amenorrhea, Secondary ame... OMIM:617565
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Normosmic Congenital Hypogonadotropic Hypogonadism
Cryptorchidism, Male hypogonadism, Increased female libido, Delayed puberty, Secondary amenorrhea... ORPHA:432
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Leukopenia, Splenomegaly, Anemia OMIM:615285
48,Xyyy Syndrome
Enamel hypoplasia, Long philtrum, Male hypogonadism, Azoospermia, Irregularly spaced teeth, Epica... ORPHA:99329
Spermatogenic Failure 38
Absent sperm flagella, Reduced sperm motility, Abnormal sperm head morphology, Oligospermia, Abno... OMIM:618433
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Infertility, Male hypogonadism, Increased circulating gonadotropin level, Abnormal vagina morphol... ORPHA:168563
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Central hypothyroidism, Decreas... ORPHA:453533
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Deafness-Infertility Syndrome
Reduced sperm motility, Male infertility, Abnormal spermatogenesis OMIM:611102
Familial Hyperprolactinemia
Infertility, Amenorrhea, Oligomenorrhea, Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia ORPHA:397685
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Cryptorchidism, Microphallus, Primary amenorrhea, Absence of pubertal development, Hypogonadotrop... OMIM:614840
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
48,Xxyy Syndrome
Open bite, Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Cryptorch... ORPHA:10
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Oligomenorrhea, Hypopl... OMIM:615300
Gombo Syndrome
Microphthalmia OMIM:233270
Premature Ovarian Failure 3
Secondary amenorrhea, Hypoplasia of the uterus, Premature ovarian insufficiency OMIM:608996
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Duplicated lacrimal punctum, Female infertility, Secondary amenorrhea, Punctal stenosis, Elevated... ORPHA:572333
Leydig Cell Hypoplasia
Cryptorchidism, Male hypogonadism, Abnormal internal genitalia, Secondary amenorrhea, Micropenis,... ORPHA:755
Blepharophimosis, Ptosis, And Epicanthus Inversus
Highly arched eyebrow, Increased circulating gonadotropin level, Blepharophimosis, Amenorrhea, Ir... OMIM:110100
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Cryptorchidism, Azoospermia, Primary amenorrhea, Decreased testicular size, Micropenis OMIM:614897
46,Xx Testicular Disorder Of Sex Development
Ambiguous genitalia, Decreased testicular size, Male hypogonadism, Polycystic ovaries ORPHA:393
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Short philtrum, Abnormal vagina morphology, Hypoplasia of the uterus, P... ORPHA:247768
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia OMIM:277180
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure, Y-Linked, 2
Azoospermia OMIM:415000
Bloom Syndrome
Cryptorchidism, Decreased fertility in females, Agenesis of maxillary lateral incisor, Azoospermi... OMIM:210900
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Male infertility, Micropenis, Elevated circulating luteinizing hormone leve... ORPHA:90797
Agammaglobulinemia 3, Autosomal Recessive
Neutropenia OMIM:613501
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Cryptorchidism, Infertility, Primary amenorrhea, Hypogonadotropic hypogonadism, Decreased testicu... OMIM:146110
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
46,Xy Partial Gonadal Dysgenesis
Cryptorchidism, Abnormal internal genitalia, Delayed puberty, Female external genitalia in indivi... ORPHA:251510
Premature Ovarian Failure 5
Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea OMIM:611548
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus, Cleft upper lip, Cleft palate, Microgna... OMIM:601076
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Long philtrum, Azoospermia, Congenital ptosis, Hypergonadotropic hypogonadism, Delayed puberty, D... ORPHA:280679
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Primary amenorrhea OMIM:617690
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Taurodontia, Periapical tooth abscess, Agenesis of incisor, Enamel hypominera... ORPHA:3352
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia OMIM:610798
Diethylstilbestrol Syndrome
Cryptorchidism, Decreased fertility in females, Abnormality of the uterus, Abnormal reproductive ... ORPHA:1916
Holoprosencephaly 9
Hypoplasia of the premaxilla, Panhypopituitarism, Cryptorchidism, Short philtrum, Micropenis, Age... OMIM:610829
Pseudohermaphroditism, Female, With Skeletal Anomalies
Ambiguous genitalia, Clitoral hypertrophy, Primary amenorrhea, Short mandibular condyles, Hypopla... OMIM:264270
Dextrocardia With Unusual Facies And Microphthalmia
Microphthalmia, Anophthalmia OMIM:221950
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency OMIM:300511
Immunodeficiency 21
Myeloid leukemia, Monocytopenia, Abnormal natural killer cell morphology, Lymphopenia, Neutropeni... OMIM:614172
Spermatogenic Failure 28
Decreased testicular size, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:618086
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Primary amenorrhea OMIM:614129
Tooth Agenesis, Selective, X-Linked, 1
Agenesis of lateral incisor, Oligodontia, Anodontia, Hypodontia, Tooth agenesis, Agenesis of prem... OMIM:313500
Gordon Holmes Syndrome
Hypogonadotropic hypogonadism, Infertility, Oligomenorrhea OMIM:212840
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Cryptorchidism, Delayed puberty, Female external genitalia in individual with 46,XY karyotype, De... ORPHA:90796
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Neutropenia, Anemia OMIM:614082
Xq27.3Q28 Duplication Syndrome
Cryptorchidism, Thin vermilion border, Decreased testicular size, Hypogonadism, Premature ovarian... ORPHA:261483
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Type II diabetes mellitus, Oligospermia OMIM:615703
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Specific Granule Deficiency 2
Thrombocytopenia, Absent neutrophil specific granules, Neutropenia, Anemia OMIM:617475
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Hypodontia-Dysplasia Of Nails Syndrome
Delayed eruption of teeth, Agenesis of permanent teeth, Abnormality of dental morphology, Everted... ORPHA:2228
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Long philtrum, Azoospermia, Hypergonadotropic hypogonadism, Ptosis, Decreased testicular size, Re... OMIM:300845
Premature Ovarian Failure 1
Irregular menstruation, Increased circulating gonadotropin level, Premature ovarian insufficiency OMIM:311360
Chand Syndrome
Commissural lip pit, Imperforate hymen, Agenesis of permanent teeth, Agenesis of maxillary inciso... ORPHA:1401
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Oligodontia, Agenesis of central incisor, Abnormality of canine, Pierre-Robin sequence, Everted l... ORPHA:364577
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, High, narrow palate, Azoospermia, Abnormality of the hypothalamus... ORPHA:2183
Mohr Syndrome
Accessory oral frenulum, Agenesis of central incisor, Tongue nodules, Bifid tongue, Lobulated ton... OMIM:252100
Specific Granule Deficiency 1
Absent neutrophil specific granules, Increased neutrophil mitochondria, Increased neutrophil ribo... OMIM:245480
Orofaciodigital Syndrome Type 2
Talon cusp, Agenesis of central incisor, Hypoplasia of teeth, Taurodontia, Tongue nodules, Natal ... ORPHA:2751
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Cerebrooculofacioskeletal Syndrome 3
Intrauterine growth retardation, Microphthalmia OMIM:616570
48,Xxxy Syndrome
Open bite, Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Cryptorch... ORPHA:96263
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Urogenital sinus anomaly, Vanishing testis, Decre... OMIM:273250
Congenital Varicella Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:291
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Estrogen Resistance
Hypoplasia of the uterus, Hyperinsulinemia, Primary amenorrhea OMIM:615363
Rothmund-Thomson Syndrome, Type 1
Male hypogonadism, Absent eyelashes, Hypothyroidism, Absent eyebrow, Conical tooth, Premature ova... OMIM:618625
Premature Ovarian Failure 9
Increased circulating gonadotropin level, Premature ovarian insufficiency, Amenorrhea OMIM:615724
Pallister W Syndrome
Agenesis of central incisor, Agenesis of maxillary central incisor, Broad uvula, Downslanted palp... OMIM:311450
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
46,Xy Sex Reversal 3
Ambiguous genitalia, Elevated circulating luteinizing hormone level, Exaggerated rugosity of the ... OMIM:612965
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Premature ovarian insufficiency, Abnormality of the dentition ORPHA:2278
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Xp22.3 Microdeletion Syndrome
Polycystic ovaries, Ectopic anus, Secondary amenorrhea, Hypogonadotropic hypogonadism, Decreased ... ORPHA:1643
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Androgen Insensitivity, Partial
Infertility, Cryptorchidism, Azoospermia, Bifid scrotum, Absent vas deferens, Perineal hypospadia... OMIM:312300
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Infertility, Azoospermia, Amenorrhea OMIM:602390
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Hypergonadotropic hypogonadism, Gonadal dysgenesis, Primary amenorrhea OMIM:607080
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Ptosis, Precocious puberty, Polycystic ovaries ORPHA:2229
Nanophthalmos
Microphthalmia ORPHA:35612
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Thrombocytopenia 5
Thrombocytopenia, Neutropenia, Anemia OMIM:616216
49,Xxxxy Syndrome
Open bite, Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Cryptorch... ORPHA:96264
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Small pituitary gland, Primary amenorrhea, Cleft palate, Decreased testicular siz... OMIM:614880
Refractory Anemia
Erythroid hypoplasia, Neutropenia, Normocytic anemia, Thrombocytopenia, Normochromic anemia, Anem... ORPHA:98826
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome
Blepharophimosis, Epicanthus, Synophrys, Abnormal lacrimal duct morphology, Ptosis, Premature ova... ORPHA:126
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Absent testis, Abnormality... ORPHA:983
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Pancytope... OMIM:614470
Microphthalmia, Syndromic 8
Cryptorchidism, Blepharophimosis, Mandibular prognathia, Oral cleft, Short palpebral fissure, Cle... OMIM:601349
Holoprosencephaly-Caudal Dysgenesis Syndrome
Hypertelorism, Cyclopia, Proptosis ORPHA:2165
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Progesterone Resistance
Female infertility OMIM:264080
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Mental Retardation, Autosomal Dominant 21
Cryptorchidism, Thin vermilion border, Long philtrum, Narrow mouth, Incisor macrodontia, Epicanth... OMIM:615502
Agammaglobulinemia 4, Autosomal Recessive
Neutropenia OMIM:613502
Satoyoshi Syndrome
Abnormality of the ovary, Abnormality of the uterus, Nephrogenic diabetes insipidus, Amenorrhea, ... ORPHA:3130
46,Xy Sex Reversal 1
Ambiguous genitalia, Abnormality of the menstrual cycle, Elevated circulating luteinizing hormone... OMIM:400044
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Mandibular aplasia, Cyclopia, Hypoplasia of penis ORPHA:990
47,Xyy Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Azoospermia, Oligospermia, Micropenis, ... ORPHA:8
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Bicornuate uterus, Death in infancy, Cleft palate OMIM:258320
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Cryptorchidism, Delayed puberty, Aplasia of the ovary, Hypergonadotropic hypogonadism, Absence of... ORPHA:2232
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Bicornuate uterus, Azoospermia ORPHA:2578
49,Xyyyy Syndrome
Male hypogonadism, Increased circulating gonadotropin level, Azoospermia, Abnormality of the test... ORPHA:99330
Adrenal Hypoplasia, Congenital
Cryptorchidism, Adrenal hypoplasia, Azoospermia, Oligospermia, Decreased circulating cortisol lev... OMIM:300200
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Gonadoblastoma
Ambiguous genitalia, Abnormality of the ovary, Dysgerminoma, Female external genitalia in individ... ORPHA:206484
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia OMIM:613885
W Syndrome
Agenesis of maxillary central incisor, Upper lip pit, Broad uvula, Downslanted palpebral fissures... ORPHA:2804
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia OMIM:610738
3-Methylglutaconic Aciduria, Type Vii
Neutropenia OMIM:616271
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Premature ovarian insufficiency ORPHA:75325
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Azoospermia OMIM:615234
X-Linked Intellectual Disability, Sutherland-Haan Type
Upslanted palpebral fissure, Mandibular prognathia, Anal atresia, Decreased testicular size, Hypo... ORPHA:93950
Solitary Median Maxillary Central Incisor
Coloboma, Cyclopia, Hypotelorism, Anterior hypopituitarism, Decreased response to growth hormone ... OMIM:147250
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Abnormal circulating dehydroepiandrosterone concentration, Cryptorchidism, Decreased circulating ... ORPHA:90791
Maternal Uniparental Disomy Of Chromosome X
Ambiguous genitalia, Thin vermilion border, Azoospermia, Gonadal tissue inappropriate for externa... ORPHA:261519
Clark-Baraitser syndrome
Macroorchidism, Maxillary lateral incisor microdontia, Downslanted palpebral fissures, Exaggerate... OMIM:300602
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Hyperprolactinemia
Infertility, Menorrhagia, Increased circulating prolactin concentration, Oligomenorrhea OMIM:615555
Myopathy, Congenital, Bailey-Bloch
Cryptorchidism, Downturned corners of mouth, Blepharophimosis, Short palpebral fissure, Ptosis, C... OMIM:255995
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Neutropenia, Pancytopenia, Thrombocytopenia, Hypoplastic anemia, A... OMIM:159550
Popliteal Pterygium Syndrome
Cryptorchidism, Bifid scrotum, Scrotal hypoplasia, Hypoplasia of the uterus, Ankyloblepharon, Hyp... OMIM:119500
Atkin-Flaitz Syndrome
Everted lower lip vermilion, Macroorchidism, Abnormality of the dentition, Thick vermilion border... ORPHA:1193
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Neutropenia, Reticulocytopenia OMIM:612527
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Joubert Syndrome 26
Panhypopituitarism, Central hypothyroidism, Ptosis, Cleft lip, Cleft palate, Micropenis, Decrease... OMIM:616784
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Testicular dysgenesis, Male pseudohermaphroditism, Polycystic ovaries ORPHA:242
Transcobalamin Deficiency
Thrombocytopenia, Lymphopenia, Pancytopenia, Neutropenia ORPHA:859
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90793
Young Syndrome
Azoospermia OMIM:279000
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Aplasia of the uterus, Abnormal circulating fol... ORPHA:99429
Ciliary Dyskinesia, Primary, 40
Infertility, Azoospermia OMIM:618300
8Q22.1 Microdeletion Syndrome
Cryptorchidism, Long philtrum, Highly arched eyebrow, Blepharophimosis, Sparse eyelashes, Hypopla... ORPHA:178303
Premature Ovarian Failure 16
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Premature ova... OMIM:618723
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Neutropenia, Thrombocytopenia, Irritability, Leukopenia OMIM:229050
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Neutropenia, Thrombocytopenia, Anemia, Splenomegaly OMIM:603552
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Cleft lip, Cleft palate OMIM:612370
Premature Ovarian Failure 17
Elevated circulating luteinizing hormone level, Decreased antimullerian hormone level, Decreased ... OMIM:619146
Spermatogenic Failure 4
Azoospermia, Recurrent spontaneous abortion OMIM:270960
Kennedy Disease
Erectile dysfunction, Testicular atrophy, Decreased fertility, Type II diabetes mellitus ORPHA:481
Premature Ovarian Failure 8
Premature ovarian insufficiency, Increased circulating gonadotropin level, Ovarian neoplasm, Prim... OMIM:615723
Atkin-Flaitz Syndrome
Macroorchidism, Maxillary lateral incisor microdontia, Downslanted palpebral fissures, Exaggerate... OMIM:300431
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hypergonadotropic hypogonadism, Azoospermia OMIM:613724
Zimmermann-Laband Syndrome
Macroglossia, Gingival fibromatosis, Wide mouth, Long eyelashes, Hypodontia, Anterior open-bite m... ORPHA:3473
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphology, Neutropenia, Thrombocytope... OMIM:300835
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Familial Male-Limited Precocious Puberty
Long penis, Oligospermia, Macroorchidism, Male infertility, Precocious puberty ORPHA:3000
Functioning Gonadotropic Adenoma
Pituitary hypothyroidism, Delayed puberty, Decreased female libido, Anterior hypopituitarism, Pit... ORPHA:91348
Mosaic Trisomy 14
Cryptorchidism, Blepharophimosis, Wide mouth, Hypospadias, Cleft palate, Ectopic anus, Ptosis, Hy... ORPHA:1703
8P11.2 Deletion Syndrome
Cryptorchidism, Azoospermia, Blepharophimosis, Upslanted palpebral fissure, Epicanthus, Hypoplasi... ORPHA:251066
Plin1-Related Familial Partial Lipodystrophy
Infertility, Hyperinsulinemia, Oligomenorrhea, Polycystic ovaries, Abnormal circulating hormone c... ORPHA:280356
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Abnormality of the mouth, Decreased fertility OMIM:313200
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of the premaxilla, Cryptorchidism, Ambiguous genitalia, Cyclopia, Micrognathia, Umbili... ORPHA:2166
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Hyperinsulinemia, Breast hypoplasia, Absence of seconda... ORPHA:785
46,Xx Sex Reversal 1
Ovotestis, Elevated circulating luteinizing hormone level, Azoospermia, Sex reversal, Bicornuate ... OMIM:400045
46,Xy Sex Reversal 7
Gonadoblastoma, Sex reversal, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Streak ... OMIM:233420
Kennerknecht Syndrome
Hypoplasia of the uterus, Long eyelashes, Hypodontia, Malrotation of colon, High palate, Agonadism OMIM:600908
45,X/46,Xy Mixed Gonadal Dysgenesis
Cryptorchidism, Chordee, Abnormal internal genitalia, Delayed puberty, Epispadias, High palate, M... ORPHA:1772
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Ovarian Fibrothecoma
Abnormality of the ovary, Abnormality of the endometrium, Metrorrhagia, Gonadal calcification, Ab... ORPHA:314478
Fetal Akinesia Deformation Sequence 2
Cryptorchidism, Tented upper lip vermilion, Cleft palate, Downslanted palpebral fissures, High pa... OMIM:618388
Arthrogryposis, Distal, Type 1C
Pursed lips, Cryptorchidism, Thin vermilion border, Narrow mouth, Blepharophimosis, Cleft lip, Cl... OMIM:619110
Immunodeficiency 46
Intermittent thrombocytopenia, Neutropenia, Anemia OMIM:616740
46,Xx Sex Reversal 2
Ovotestis, Azoospermia, Bifid scrotum, Sex reversal, Scrotal hypoplasia, Hypoplasia of the uterus... OMIM:278850
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia OMIM:164180
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Cryptorchidism, Small pituitary gland, Primary amenorrhea, Cleft lip, Hypogonadotropic hypogonadi... OMIM:612702
Hepatic Adenomas, Familial
Maturity-onset diabetes of the young, Polycystic ovaries OMIM:142330
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Male infertility, Obstructive azoospermia, Oligospermia ORPHA:48
Craniofacial-Deafness-Hand Syndrome
Hypertelorism, Malar flattening, Hypoplasia of the maxilla OMIM:122880
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
Cornelia De Lange Syndrome 5
Cryptorchidism, Thin vermilion border, Long philtrum, Highly arched eyebrow, Downturned corners o... OMIM:300882
Meningioma
Decreased circulating ACTH level, Decreased circulating follicle stimulating hormone concentratio... ORPHA:2495
46,Xx Ovotesticular Disorder Of Sex Development
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:2138
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Hypothyroidism, Decreased testicular size, Hypoplasia of the fallopian tube, Ab... ORPHA:3464
Congenital Primary Aphakia
Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia, Microphthalmia ORPHA:83461
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Oligomenorrhea, Amenorrhea, Polycystic ovaries, Menorrhagia, Abnormalit... ORPHA:2795
Hypersecretion Of Adrenal Androgens, Familial
Increased circulating androgen concentration, Adrenal overactivity, Premature pubarche, Amenorrhea OMIM:145295
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Microform Holoprosencephaly
Panhypopituitarism, Ambiguous genitalia, Cyclopia, Iris coloboma, Hypoplasia of penis, Hypotelorism ORPHA:280200
Fanconi Anemia, Complementation Group V
Thrombocytopenia, Neutropenia, Anemia OMIM:617243
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Panhypopituitarism, Macroglossia, Decreased circulating ACTH level, Decreased circulating follicl... ORPHA:226307
Distal Monosomy 10P
Cryptorchidism, Non-midline cleft lip, Polycystic ovaries, Cleft palate, Ectopic anus, Anal atres... ORPHA:1580
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Vaginal dryness, Lacrimal duct atresia, Absent eyelashes, Sparse eyelashes, Ankyloblepharon, Hypo... OMIM:106260
Aarskog-Scott Syndrome
Delayed eruption of teeth, Cryptorchidism, Long philtrum, Everted lower lip vermilion, Epicanthus... ORPHA:915
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Decreased testicular size, Hypogonadism, Micropenis OMIM:616030
Ring Chromosome 21 Syndrome
Infertility, Diabetes insipidus, Azoospermia, Amenorrhea ORPHA:1445
Fanconi Anemia, Complementation Group J
Intrauterine growth retardation, Microphthalmia OMIM:609054
Immunodeficiency 55
Neutropenia OMIM:617827
Hemochromatosis, Type 1
Azoospermia, Amenorrhea, Impotence, Testicular atrophy, Hypogonadotropic hypogonadism, Diabetes m... OMIM:235200
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Hydatidiform Mole
Enlarged uterus, Spontaneous abortion, Hyperthyroidism, Menometrorrhagia ORPHA:99927
Au-Kline Syndrome
Cryptorchidism, Oligodontia, Downturned corners of mouth, Open mouth, Ptosis, Long palpebral fiss... OMIM:616580
Incisors, Lower Central, Absence Of
Agenesis of mandibular central incisor OMIM:147330
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Cortisone Reductase Deficiency 1
Infertility, Precocious puberty, Oligomenorrhea OMIM:604931
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
High, narrow palate, Premature ovarian insufficiency OMIM:618124
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomega... OMIM:150550
Wolfram Syndrome, Mitochondrial Form
Megaloblastic anemia, Thrombocytopenia, Neutropenia, Sideroblastic anemia OMIM:598500
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cryptorchidism, Hyperinsulinemia, Hypergonadotropic hypogonadism, Polycystic ovaries, Secondary a... ORPHA:3085
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Cleft upper lip, Cleft palate, Hypogonadotropic hypogonadism,... OMIM:244200
Seckel Syndrome 7
Central hypothyroidism, Hypoplasia of the uterus, Primary amenorrhea OMIM:614851
Rudiger Syndrome
Ovarian cyst, Bicornuate uterus, Death in infancy, Micropenis OMIM:268650
Adult Idiopathic Neutropenia
Monocytosis, Monocytopenia, Neutropenia, Lymphopenia ORPHA:2688
Holoprosencephaly 3
Cyclopia, Proptosis, Central diabetes insipidus, Hypotelorism, Malar flattening OMIM:142945
Testicular Agenesis
Urethrovaginal fistula, Ambiguous genitalia, Increased circulating gonadotropin level, Absent tes... ORPHA:325124
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Hydrocolpos, Partial vaginal septum, Dyspareunia, Abnormality of the uterine cervix, Metrorrhagia... ORPHA:3411
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Cleft lip, Cleft palate, Hypogonadotropic hypogonadism, Decreased testicular size, Micropenis OMIM:614838
Pseudotrisomy 13 Syndrome
Cryptorchidism, Cyclopia, Bicornuate uterus, Hypotelorism, Micropenis OMIM:264480
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia OMIM:606843
Aromatase Deficiency
Hypergonadotropic hypogonadism, Ovarian cyst, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia OMIM:618752
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea OMIM:184700
Ovarian Dysgenesis 1
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea OMIM:233300
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Primary amenorrhea, Decreased testicular size, Hypogonadism, Micropenis OMIM:614962
Taurodontism, Microdontia, And Dens Invaginatus
Microdontia, Dens in dente, Pulp calcification, Taurodontia OMIM:313490
Pontocerebellar Hypoplasia, Type 14
Thrombocytopenia, Chronic neutropenia OMIM:619301
Asherman Syndrome
Infertility, Decreased fertility in females, Abnormality of the menstrual cycle, Oligomenorrhea, ... ORPHA:137686
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Cryptorchidism, Mandibular prognathia, High palate, Diastema, Smooth philtrum, Upslanted palpebra... OMIM:300534
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar OMIM:114700
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
Delayed eruption of teeth, Narrow palate, Blepharophimosis, Epicanthus, Anodontia, Supernumerary ... OMIM:264475
Woodhouse-Sakati Syndrome
Decreased serum insulin-like growth factor 1, Hypergonadotropic hypogonadism, Hypoplasia of the f... OMIM:241080
Satoyoshi Syndrome
Malabsorption, Hypoplasia of the uterus, Amenorrhea OMIM:600705
Syndromic X-Linked Intellectual Disability Due To Jarid1C Mutation
High palate, Cryptorchidism, Decreased testicular size, Hypoplasia of the maxilla ORPHA:85279
Nablus Mask-Like Facial Syndrome
Cryptorchidism, Long philtrum, Highly arched eyebrow, Narrow mouth, Blepharophimosis, Labial hypo... OMIM:608156
Hemochromatosis, Type 3
Lymphopenia, Neutropenia, Anemia OMIM:604250
Acrodysostosis
Open bite, Delayed eruption of teeth, Cryptorchidism, Open mouth, Irregular menstruation, Mandibu... ORPHA:950
Aarskog-Scott Syndrome
Cryptorchidism, Elevated circulating luteinizing hormone level, Broad philtrum, Curved linear dim... OMIM:305400
Myhre Syndrome
Cryptorchidism, Thin vermilion border, Narrow mouth, Mandibular prognathia, Gingival cleft, Episp... ORPHA:2588
Retinal Dystrophy With Or Without Extraocular Anomalies
Secondary amenorrhea, Goiter, Premature ovarian insufficiency OMIM:617175
Trichodermodysplasia-Dental Alterations Syndrome
Delayed eruption of teeth, Abnormal morphology of female internal genitalia, Abnormality of denta... ORPHA:3353
Aregenerative Anemia
Erythroid hypoplasia, Depression, Decreased proportion of CD4-positive helper T cells, Neutropeni... ORPHA:101096
Aromatase Deficiency
Cryptorchidism, Hypergonadotropic hypogonadism, Primary amenorrhea, Female infertility, Type II d... ORPHA:91
Rapp-Hodgkin Syndrome
Decreased number of sweat glands, Narrow mouth, Small, conical teeth, Hypodontia, Hypoplastic lab... OMIM:129400
Mmep Syndrome
Microphthalmia ORPHA:3434
Hemifacial Hyperplasia
Dental malocclusion, Hypoplasia of the maxilla OMIM:133900
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary, Osteosclerosis of the base of the skull OMIM:609993
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Blepharonasofacial Malformation Syndrome
Cryptorchidism, Long philtrum, Blepharophimosis, Abnormal eyelash morphology, Epicanthus, Non-mid... ORPHA:1252
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
Proptosis, Hypoplasia of the maxilla OMIM:608432
Non-Functioning Pituitary Adenoma
Male hypogonadism, Pituitary hypothyroidism, Decreased fertility in females, Adrenocorticotropin ... ORPHA:91349
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Intrauterine growth retardation, Microphthalmia OMIM:616171
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Hypoplasia of the uterus, Amenorrhea OMIM:277000
Lujan-Fryns Syndrome
Short philtrum, Dental crowding, Macroorchidism, Abnormality of the dentition, High palate, Micro... ORPHA:776
Trisomy 18
Cryptorchidism, Abnormal morphology of female internal genitalia, Spina bifida, Hypertelorism, Cy... ORPHA:3380
Whim Syndrome 1
Neutropenia OMIM:193670
Holoprosencephaly
Chorioretinal coloboma, Cryptorchidism, Panhypopituitarism, Hypertelorism, Cyclopia, Branchial an... ORPHA:2162
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Microphthalmia OMIM:120433
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome
Carious teeth, Nephrogenic diabetes insipidus, Delayed puberty, Supernumerary tooth, Hypoplasia o... ORPHA:3145
Spermatogenic Failure 9
Globozoospermia OMIM:613958
Dens Evaginatus
Talon cusp, Abnormality of the dentition OMIM:125280
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Congenital thrombocytopenia, Neutropenia, Anemia OMIM:616738
Tetragametic Chimerism
Cryptorchidism, Abnormality of the ovary, Ambiguous genitalia, Ovotestis, Abnormality of the scro... ORPHA:199310
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Tooth agenesis, Cleft upper lip, Cleft palate, Hypogonadotrop... OMIM:147950
Dens In Dente And Palatal Invaginations
Dens in dente, Abnormality of the dentition OMIM:125300
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Hypogonadotropic hypogonadism, Decreased testicular size, Dia... OMIM:610628
Rin2 Syndrome
Cryptorchidism, Long philtrum, Hypergonadotropic hypogonadism, Irregular dentition, Abnormal lip ... ORPHA:217335
Immunodeficiency 67
Transient neutropenia, Liver abscess OMIM:607676
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Long penis, Elevated serum 11-deoxycortisol,... OMIM:202010
Pituicytoma
Abnormality of the pituitary gland, Amenorrhea, Pituicytoma, Abnormality of circulating adrenocor... ORPHA:251623
Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, And Brachydactyly
Hypospadias, Oligodontia, Microdontia, Supernumerary tooth OMIM:191482
X-Linked Intellectual Disability, Abidi Type
Decreased testicular size, Non-midline cleft lip, Cleft palate ORPHA:85273
Ovarian Fibroma
Ovarian fibroma, Abnormality of the ovary, Odontogenic keratocysts of the jaw, Gonadal calcification ORPHA:314473
Peters-Plus Syndrome
Cryptorchidism, Thin vermilion border, Agenesis of maxillary lateral incisor, Clitoral hypoplasia... OMIM:261540
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome
Hypoplasia of the premaxilla, Fused labia minora, Primary amenorrhea, Mandibular condyle hypoplas... ORPHA:2975
Axenfeld-Rieger Syndrome, Type 2
Cryptorchidism, Short philtrum, Anal stenosis, Mandibular prognathia, Everted lower lip vermilion... OMIM:601499
Brachycephaly, Trichomegaly, And Developmental Delay
Highly arched eyebrow, Thin vermilion border, Open mouth, Epicanthus, Long eyelashes, Synophrys, ... OMIM:617412
16P13.11 Microdeletion Syndrome
Cryptorchidism, Cyclopia ORPHA:261236
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume OMIM:618849
Slc35A1-Cdg
Thrombocytopenia, Giant platelets, Neutropenia, Abnormal platelet granules ORPHA:238459
Hypergonadotropic Hypogonadism-Cataract Syndrome
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:2410
Faciothoracogenital Syndrome
Microphthalmia OMIM:227320
Amed Syndrome, Digenic
Hypoplasia of the uterus, Adrenal hypoplasia, Telecanthus OMIM:619151
Letterer-Siwe Disease
Neutropenia, Thrombocytopenia, Irritability, Anemia, Hepatosplenomegaly OMIM:246400
Prolactinoma
Male hypogonadism, Elevated circulating growth hormone concentration, Pituitary hypothyroidism, D... ORPHA:2965
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... ORPHA:231154
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Hypogonadotropic Hypogonadism 25 With Anosmia
Cryptorchidism, Primary amenorrhea, Hypothalamic gonadotropin-releasing hormone deficiency, Decre... OMIM:618841
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Ambiguous genitalia, Increased circulating androstenedione concentration, Long penis, Premature p... ORPHA:90795
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Blind vagina, Labial hypoplasia, Primary amenorrh... OMIM:300068