Gene Summary

Name:
inhibitor of growth family, member 2
Synonyms:
ING2,  P33ING2,  2810011M06Rik,  Ing1l

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased vertical activity Ing2tm1.1(KOMP)Vlcg HET Early adult 4.52×10-05
hyperactivity Ing2tm1.1(KOMP)Vlcg HET Early adult 2.84×10-12
preweaning lethality, incomplete penetrance Ing2tm1.1(KOMP)Vlcg HOM   Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 100% (2 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Cartilage tissue  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Cerebral cortex  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Hippocampus  Section images heterozygote 100% (2 of 2)
Hypothalamus  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Lymph node  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Pituitary gland  Section images heterozygote 100% (2 of 2)
Skeletal muscle  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 50% (1 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 100% (2 of 2)
Thyroid gland  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vascular system  Section images heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote Not available
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe 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)
Prostate gland N/A heterozygote Not available
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (1 of 1)
Embryo N/A homozygote Ambiguous
Brain N/A heterozygote 100% (1 of 1)
Brain N/A homozygote Ambiguous
Dorsal root ganglion N/A heterozygote Ambiguous
Dorsal root ganglion N/A homozygote Ambiguous
Ear N/A heterozygote 100% (1 of 1)
Ear N/A homozygote Ambiguous
Eye N/A heterozygote 100% (1 of 1)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 100% (1 of 1)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 100% (1 of 1)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 100% (1 of 1)
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote Ambiguous
Fronto-nasal process N/A homozygote Ambiguous
Handplate N/A heterozygote 100% (1 of 1)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 100% (1 of 1)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 100% (1 of 1)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 100% (1 of 1)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 100% (1 of 1)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 100% (1 of 1)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote Ambiguous
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 100% (1 of 1)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 100% (1 of 1)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 100% (1 of 1)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 100% (1 of 1)
Nose N/A homozygote Ambiguous
Oral cavity N/A heterozygote Ambiguous
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote 100% (1 of 1)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 100% (1 of 1)
Spinal cord N/A homozygote Ambiguous
Tail somite N/A heterozygote 100% (1 of 1)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 100% (1 of 1)
Tail N/A homozygote Ambiguous

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 585)
aorta 0.17% (1 of 585)
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
epididymis 13.43% (18 of 134)
esophagus 1.71% (7 of 409)
eye 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
submandibular gland 1.52% (2 of 132)
testis 1.03% (6 of 585)
thalamus 0.0%
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
urinary bladder 0.0%
uterus 0.0%
vascular system 0.0%
vesicular gland 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)
brain 1.18% (6 of 508)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)

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

8 Images

X-ray

XRay Images Forepaw

10 Images

Adult LacZ

LacZ Images Section

36 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

9 Images

Human diseases caused by Ing2 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 Ing2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Mental Retardation, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Partial Chromosome Y Deletion
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi... ORPHA:1646
Spermatogenic Failure 54
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... OMIM:619379
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Spermatogenic Failure 56
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:619515
Spermatogenic Failure 51
Oligospermia, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm fla... OMIM:619177
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm morphology, Abnormal sperm tail morphology, Increased circulating gonadotropin lev... ORPHA:399808
Spermatogenic Failure 39
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618643
Spermatogenic Failure, X-Linked, 3
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:301059
Spermatogenic Failure 42
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... OMIM:618745
Spermatogenic Failure 40
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... OMIM:618664
Spermatogenic Failure 58
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... OMIM:619585
Male Infertility Due To Acephalic Spermatozoa
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... ORPHA:529970
Isolated Follicle Stimulating Hormone Deficiency
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... ORPHA:52901
Immunodeficiency 8
Hyperactivity OMIM:615401
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella OMIM:618670
Spermatogenic Failure 47
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella OMIM:619102
Spermatogenic Failure 11
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility OMIM:615081
Microcephaly 25, Primary, Autosomal Recessive
Attention deficit hyperactivity disorder OMIM:618351
Spermatogenic Failure 46
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... OMIM:619095
Spermatogenic Failure 18
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617576
Spermatogenic Failure 20
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617593
Spermatogenic Failure 19
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617592
Spermatogenic Failure 35
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618341
Spermatogenic Failure 33
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618152
Spermatogenic Failure 34
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618153
Spermatogenic Failure 24
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Short sperm flagella, Microcep... OMIM:617959
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... OMIM:618751
Spermatogenic Failure 49
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619094
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Infertility OMIM:608653
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 7
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility OMIM:612997
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Isochromosomy Yp
Azoospermia, Ambiguous genitalia, Male infertility, Primary gonadal insufficiency, Decreased test... ORPHA:98797
Spermatogenic Failure 25
Azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 48
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Non-obstructive a... OMIM:619528
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Spermatogenic Failure 1
Oligospermia, Male infertility, Cryptozoospermia OMIM:258150
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Azoospermia OMIM:619145
Spermatogenic Failure 38
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618433
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Isochromosomy Yq
Azoospermia, Varicocele, Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia... ORPHA:98798
Spermatogenic Failure 8
Oligospermia, Azoospermia, Cryptozoospermia OMIM:613957
Familial Male-Limited Precocious Puberty
Oligospermia, Macroorchidism, Long penis, Male infertility, Precocious puberty ORPHA:3000
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Spermatogenic Failure 2
Oligospermia, Azoospermia OMIM:108420
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Azoospermia, Hypogonadism, Primary amenorrhea, Decreased testicular size OMIM:229070
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Spermatogenic Failure 9
Globozoospermia OMIM:613958
Spermatogenic Failure 5
Functional abnormality of male internal genitalia, Male infertility OMIM:243060
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Persistent Mullerian Duct Syndrome, Types I And Ii
Abnormal circulating hormone concentration, Abnormality of male internal genitalia, Male infertil... OMIM:261550
Young Syndrome
Obstructive azoospermia, Abnormality of the pancreas, Decreased fertility ORPHA:3471
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder OMIM:617787
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm morphology, Infertility, Reduced sperm motility, Abnormal sperm head morphology, D... ORPHA:320391
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Morbid Obesity And Spermatogenic Failure
Oligospermia, Infertility, Type II diabetes mellitus, Azoospermia, Hepatic steatosis OMIM:615703
Spastic Paraplegia-Precocious Puberty Syndrome
Precocious puberty in males, Hyperplasia of the Leydig cells ORPHA:2826
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermato... ORPHA:399805
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Ring Chromosome Y Syndrome
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Abnormality of the male geni... ORPHA:261529
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Secondary amenorrhea, Abnormality of the Leydig cells, Androgen insuff... OMIM:228300
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria
Attention deficit hyperactivity disorder OMIM:204750
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Hypogonadism, Male
Testicular atrophy, Micropenis, Male hypogonadism, Hypospadias OMIM:241100
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Mccune-Albright Syndrome
Increased serum testosterone level, Goiter, Increased circulating cortisol level, Hepatitis, Cuta... ORPHA:562
Leydig Cell Hypoplasia
Hypospadias, Secondary amenorrhea, Aplasia of the uterus, Abnormal external genitalia, Micropenis... ORPHA:755
Ollier Disease
Hemangioma, Visceral angiomatosis, Lymphangioma, Chondrosarcoma, Neoplasm, Anemia, Sarcoma, Preco... ORPHA:296
Mental Retardation, X-Linked 14
Macroorchidism OMIM:300062
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk OMIM:616657
Mental Retardation, X-Linked 2
Macroorchidism OMIM:300428
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Obstructive azoospermia, Male infertility OMIM:301060
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility ORPHA:48
47,Xyy Syndrome
Hypospadias, Oligospermia, Macroorchidism, Increased serum testosterone level, Azoospermia, Incre... ORPHA:8
Functioning Gonadotropic Adenoma
Oligospermia, Abnormal prolactin level, Increased serum testosterone level, Abnormality of the me... ORPHA:91348
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Hypochromia, Azoospermia, Anemia, Splenomegaly, Hypogonadism, Poikilocytosis, Decre... OMIM:615234
Polyembryoma
Macroorchidism, Increased serum testosterone level, Gonadal neoplasm, Increased serum serotonin, ... ORPHA:180229
Li-Fraumeni Syndrome
Prostate neoplasm, Adrenocortical carcinoma, Choriocarcinoma, Acute leukemia, Lung adenocarcinoma... OMIM:151623
Adrenal Hypoplasia, Congenital
Oligospermia, Decreased circulating aldosterone level, Adrenal insufficiency, Azoospermia, Hypogo... OMIM:300200
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia OMIM:277180
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure, Y-Linked, 2
Azoospermia OMIM:415000
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Maffucci Syndrome
Neoplasm of the parathyroid gland, Ovarian neoplasm, Astrocytoma, Goiter, Neoplasm of the adrenal... ORPHA:163634
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Erectile dysfunction, Decreased fertility ORPHA:481
Desmoplastic Small Round Cell Tumor
Ovarian neoplasm, Hepatomegaly, Neoplasm of the lung, Neoplasm of the central nervous system, Med... ORPHA:83469
Hemochromatosis, Type 1
Testicular atrophy, Hepatomegaly, Amenorrhea, Azoospermia, Hepatocellular carcinoma, Ascites, Hyp... OMIM:235200
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Azoospermia, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Micropenis, Primary amenorrh... OMIM:614837
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Azoospermia, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size OMIM:614897
Bone Marrow Failure Syndrome 5
Testicular atrophy, Pure red cell aplasia, Anemia, Hypogonadism OMIM:618165
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Cardiomegaly OMIM:300886
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Oligospermia, Cryptorchidism OMIM:314300
Li-Fraumeni Syndrome 2
Meningioma, Stomach cancer, Breast carcinoma, Sarcoma, Glioma OMIM:609265
Partington Syndrome
Macroorchidism ORPHA:94083
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism OMIM:300238
Hemochromatosis, Type 2A
Hepatomegaly, Infertility, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Splenomegaly, ... OMIM:602390
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Ovarian Fibrothecoma
Abnormality of the endometrium, Abnormality of the ovary, Increased serum testosterone level, Asc... ORPHA:314478
Megalencephaly
Macroorchidism, Long penis ORPHA:2477
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Abnormal penis morphology, Neoplasm of the breast, Goiter, Abnormality of the menstrual cycle, Po... ORPHA:457059
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity OMIM:618090
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Myotonic Dystrophy 2
Oligospermia, Hypogonadism, Elevated circulating follicle stimulating hormone level, Diabetes mel... OMIM:602668
Non-Functioning Pituitary Adenoma
Adrenal insufficiency, Increased serum testosterone level, Abnormality of the menstrual cycle, De... ORPHA:91349
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Young Syndrome
Azoospermia OMIM:279000
Melanoma-Pancreatic Cancer Syndrome
Pancreatic squamous cell carcinoma, Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcin... OMIM:606719
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased testicular size, Elevated circulating f... OMIM:618086
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism, Periventricular heterotopia OMIM:300624
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Spondylometaphyseal Dysplasia, Axial
Splenomegaly, Reduced sperm motility OMIM:602271
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Azoospermia, Hypogonadotropic hypogonadism, Decreased circulating follicle st... OMIM:308700
Werner Syndrome
Secondary amenorrhea, Ovarian neoplasm, Thyroid carcinoma, Meningioma, Acral lentiginous melanoma... ORPHA:902
Pituitary Dermoid And Epidermoid Cysts
Oligospermia, Increased circulating prolactin concentration, Enlarged pituitary gland, Oligomenor... ORPHA:91351
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Reticulum Cell Sarcoma
Sarcoma, Neoplasm OMIM:267730
46,Xy Partial Gonadal Dysgenesis
Hypospadias, Adrenal insufficiency, Elevated circulating follicle stimulating hormone level, Urog... ORPHA:251510
Androgen Insensitivity Syndrome
Aplasia/Hypoplasia of the fallopian tube, Aplasia/hypoplasia of the uterus, Abnormal morphology o... ORPHA:754
Partial Androgen Insensitivity Syndrome
Hypospadias, Increased antimullerian hormone level, Aplasia of the uterus, Increased serum testos... ORPHA:90797
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Ataxia, Attention deficit hyperactivity disorder, Difficulty walking OMIM:619191
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Carney Complex
Oligospermia, Thyroid carcinoma, Sertoli cell neoplasm, Abnormal morphology of female internal ge... ORPHA:1359
Premature Ovarian Failure 10
Elevated circulating follicle stimulating hormone level, Azoospermia, Hypoplasia of the ovary, Pr... OMIM:612885
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
Ciliary Dyskinesia, Primary, 40
Infertility, Azoospermia OMIM:618300
Androgen Insensitivity, Partial
Infertility, Bifid scrotum, Azoospermia, Absent vas deferens, Hypogonadism, Micropenis, Cryptorch... OMIM:312300
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i... ORPHA:983
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Macroorchidism, Male hypogonadism OMIM:300055
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Hereditary Amyloidosis With Primary Renal Involvement
Oligospermia, Hepatomegaly, Lymphadenopathy, Anemia, Abnormality of the lymph nodes, Hypogonadism... ORPHA:85450
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Hydrocephalus-Obesity-Hypogonadism Syndrome
Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism, Azoospermia ORPHA:2183
Alpha-Heavy Chain Disease
Hepatomegaly, Ascites, Lymphadenopathy, Anemia, Lymphoma, Splenomegaly, Premature ovarian insuffi... ORPHA:100025
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism ORPHA:3077
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Clark-Baraitser syndrome
Macroorchidism OMIM:300602
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Bone marrow hypocellularity, Cirrhosis, Pancytopenia, Thrombocytopenia OMIM:613987
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Dystonia, Oculogyric crisis, Bradykinesia, Broad-based gait, Attention deficit hyperactivity diso... OMIM:617384
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hypergonadotropic hypogonadism, Azoospermia OMIM:613724
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Sarcoma, Mastocytosis ORPHA:66661
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity OMIM:619031
Progressive Osseous Heteroplasia
Sarcoma, Abnormality of the parathyroid gland ORPHA:2762
Lead Poisoning
Oligospermia, Abnormal sperm morphology, Decreased circulating osteocalcin level, Infertility, Im... ORPHA:330015
Fragile X Syndrome
Macroorchidism ORPHA:908
Atkin-Flaitz Syndrome
Macroorchidism OMIM:300431
Ciliary Dyskinesia, Primary, 14
Immotile sperm, Reduced sperm motility, Absent inner dynein arms, Male infertility, Polysplenia, ... OMIM:613807
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Attention deficit hyperactivity disorder OMIM:188570
Spermatogenic Failure 4
Recurrent spontaneous abortion, Azoospermia OMIM:270960
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... OMIM:617091
Complete Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian... ORPHA:99429
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Nephro... ORPHA:158057
Acquired Ichthyosis
Sarcoma, Multiple myeloma, Lymphoma, Neoplasm ORPHA:454
Lujan-Fryns Syndrome
Macroorchidism ORPHA:776
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Aplasia of the uterus, Abnormality of the Leydig cells, Elevated circulating follicle stimulating... ORPHA:289548
Congenital Disorder Of Glycosylation, Type Ik
Hypogonadism, Hepatomegaly, Splenomegaly OMIM:608540
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Aplasia of the uterus, Abnormality of the Leydig cells, Elevated circulating follicle stimulating... ORPHA:168558
Aromatase Deficiency
Macroorchidism, postpubertal, Type II diabetes mellitus, Ambiguous genitalia, female, Hepatic ste... ORPHA:91
Hemochromatosis, Type 2B
Secondary amenorrhea, Hepatomegaly, Hepatic fibrosis, Anemia, Splenomegaly, Hypogonadism, Cirrhosis OMIM:613313
Undifferentiated Pleomorphic Sarcoma
Abnormality of the peritoneum, Soft tissue sarcoma ORPHA:2023
Testicular Germ Cell Tumor
Teratoma, Choriocarcinoma, Embryonal neoplasm, Azoospermia OMIM:273300
Normosmic Congenital Hypogonadotropic Hypogonadism
Increased female libido, Secondary amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Absenc... ORPHA:432
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Bicornuate uterus, Aplasia/hypoplasia of the uterus, Azoospermia ORPHA:2578
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Elevated circulating growth hormone concentration, Decreased serum insulin-like g... ORPHA:85327
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Dystonia, Ataxia OMIM:615924
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Adrenal hyperplasia, Macroorchidism, Hyperactive renin-angiotensin system, Endometrial carcinoma,... ORPHA:90790
Gardner Syndrome
Astrocytoma, Adenomatous colonic polyposis, Small intestine carcinoid, Brain neoplasm, Papillary ... ORPHA:79665
Generalized Glucocorticoid Resistance Syndrome
Oligospermia, Adrenal hyperplasia, Decreased circulating aldosterone level, Infertility, Oligomen... ORPHA:786
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Polycystic ovaries ORPHA:284180
Hyperprolinemia, Type I
Hyperactivity, Ataxia OMIM:239500
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Cerebral Sarcoma
Fibrosarcoma, Neoplasm OMIM:117600
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Hepatomegaly, Infertility, Cholangiocarcinoma, Amenorrhea, Hepatocellular car... ORPHA:465508
Gray Platelet Syndrome
Thrombocytopenia, Abnormality of the menstrual cycle, Myelodysplasia, Splenomegaly ORPHA:721
Bloom Syndrome
Oligospermia, Neoplasm of the skin, Acute lymphoblastic leukemia, Malignant genitourinary tract t... ORPHA:125
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Male infertility, Immotile sperm OMIM:614874
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Azoospermia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation tes... ORPHA:280679
Morm Syndrome
Hyperactivity ORPHA:75858
Juvenile Huntington Disease
Dystonia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Ataxia, Broad-based gait, G... ORPHA:248111
49,Xyyyy Syndrome
Azoospermia, External genital hypoplasia, Increased circulating gonadotropin level, Male hypogona... ORPHA:99330
Mannosidosis, Beta A, Lysosomal
Hyperactivity OMIM:248510
Maternal Uniparental Disomy Of Chromosome X
Primary gonadal insufficiency, Ambiguous genitalia, Gonadal tissue inappropriate for external gen... ORPHA:261519
Infantile Myofibromatosis
Neoplasm of the skin, Neoplasm of the lung, Neoplasm of the pancreas, Fibroma, Sarcoma, Benign ne... ORPHA:2591
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypospadias, Increased circulating progesterone, Aplasia of the uterus, Bifid scrotum, Elevated c... ORPHA:90793
Gapo Syndrome
Oligospermia, Dysmenorrhea, Amenorrhea, Hemangioma, Hypogonadism ORPHA:2067
Milroy Disease
Neoplasm of the skin, Hydrocele testis, Angiosarcoma ORPHA:79452
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Splenomegaly, Hypogonadism, Decreased testicular size, Decreased serum testosterone... OMIM:201100
Classic Galactosemia
Secondary amenorrhea, Hepatomegaly, Oligomenorrhea, Decreased serum insulin-like growth factor 1,... ORPHA:79239
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity OMIM:604317
Ciliary Dyskinesia, Primary, 12
Abnormal central microtubular pair morphology of respiratory motile cilia, Immotile sperm OMIM:612650
Nut Midline Carcinoma
Neuroblastoma, Pancreatic squamous cell carcinoma, Leukemia, Pancreatoblastoma, Oropharyngeal squ... ORPHA:443167
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hor... OMIM:308750
Glycine Encephalopathy
Hyperactivity, Lethargy OMIM:605899
Ciliary Dyskinesia, Primary, 26
Absent outer dynein arms, Infertility, Reduced sperm motility OMIM:615500
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Decreased response to growth hormone stimulation test, Decreased testicular size, Hypergonadotrop... OMIM:300845
Rhabdoid Tumor
Neoplasm of the central nervous system, Thrombocytopenia, Lymphadenopathy, Anemia, Neoplasm of th... ORPHA:69077
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Intellectual Developmental Disorder, Autosomal Recessive 70
Attention deficit hyperactivity disorder OMIM:618402
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Ciliary Dyskinesia, Primary, 45
Absent inner and outer dynein arms, Male infertility OMIM:618801
Ciliary Dyskinesia, Primary, 11
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility OMIM:612649
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypospadias, Increased serum testosterone level, Premature adrenarche, Ambiguous genitalia, femal... ORPHA:90791
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism, Cardiomegaly ORPHA:324410
Fraxe Intellectual Disability
Hyperactivity ORPHA:100973
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity OMIM:615541
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Lethargy OMIM:274270
8P11.2 Deletion Syndrome
Hemolytic anemia, Azoospermia, Hypogonadotropic hypogonadism, Abnormality of the hypothalamus-pit... ORPHA:251066
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Adrenal insufficiency, Anisopoikilocytosis, Elevated hepatic iron concentration, Azoospermia, Abn... ORPHA:300298
Histidinemia
Hyperactivity ORPHA:2157
Tuberous Sclerosis 2
Subungual fibromas, Cardiac rhabdomyoma, Astrocytoma, Ependymoma, Optic nerve glioma, Adenoma seb... OMIM:613254
Familial Glucocorticoid Deficiency
Decreased circulating aldosterone level, Testicular adrenal rest tumor, Adrenal insufficiency, Co... ORPHA:361
Ciliary Dyskinesia, Primary, 15
Infertility, Immotile sperm, Abnormal axonemal organization of respiratory motile cilia OMIM:613808
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Ataxia OMIM:300983
Bloom Syndrome
Type II diabetes mellitus, Azoospermia, Leukemia, Lymphoma, Squamous cell carcinoma, Cryptorchidi... OMIM:210900
Ciliary Dyskinesia, Primary, 19
Absent inner and outer dynein arms, Infertility, Reduced sperm motility OMIM:614935
Monosomy 22
Meningioma, Gonadal neoplasm, Hypochromic microcytic anemia, Aplasia of the thymus, Sarcoma, Micr... ORPHA:96123
Ciliary Dyskinesia, Primary, 22
Absent inner and outer dynein arms, Infertility, Reduced sperm motility OMIM:615444
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait OMIM:619470
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Bicornuate uterus, Hypoplasia of the uterus, Azoospermia OMIM:601076
Ciliary Dyskinesia With Defective Radial Spokes
Absent respiratory ciliary axoneme radial spokes, Immotile sperm OMIM:242670
Mental Retardation, Autosomal Dominant 43
Hyperactivity OMIM:616977
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Hypospadias, Macroorchidism, Polymicrogyria OMIM:618874
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity OMIM:300434
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility, Asplenia OMIM:618948
Neurofibromatosis Type 1
Neoplasm of the skin, Pheochromocytoma, Astrocytoma, Meningioma, Plexiform neurofibroma, Spinal n... ORPHA:636
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Dystonia, Ataxia OMIM:612716
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Oligospermia, Breast hypoplasia, Clitoral hypoplasia, Diabetes mellitus OMIM:614813
Xq25 Microduplication Syndrome
Hyperactivity ORPHA:521258
Chromosome Xq25 Duplication Syndrome
Hyperactivity OMIM:300979
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Hepatitis, Abnormal hemoglobin, Cholelithiasis, Anem... ORPHA:848
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypospadias, Bifid scrotum, Ambiguous genitalia, female, Urogenital sinus anomaly, Ambiguous geni... ORPHA:1772
Coffin-Siris Syndrome 8
Hyperactivity OMIM:618362
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Oligospermia, Hypospadias, Adrenal hyperplasia, Increased circulating progesterone, Fused labia m... ORPHA:95699
Lennox-Gastaut Syndrome
Hyperactivity, Falls ORPHA:2382
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Gait ataxia OMIM:609425
46,Xx Sex Reversal 1
Hypospadias, True hermaphroditism, Sex reversal, Elevated circulating follicle stimulating hormon... OMIM:400045
Dermatofibrosarcoma Protuberans
Fibrosarcoma, Neoplasm of the skin ORPHA:31112
Wolfram Syndrome 1
Testicular atrophy, Diabetes insipidus, Megaloblastic anemia, Sideroblastic anemia, Diabetes mell... OMIM:222300
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Azoospermia OMIM:300985
Apc-Related Attenuated Familial Adenomatous Polyposis
Astrocytoma, Adenomatous colonic polyposis, Multiple gastric polyps, Papillary thyroid carcinoma,... ORPHA:247806
Isolated Thyroid-Stimulating Hormone Deficiency
Macroorchidism, Goiter, Thyroid hypoplasia, Pituitary hypothyroidism, Decreased thyroid-stimulati... ORPHA:90674
Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Rectal polyposis, Astrocytoma, Neoplasm of the stomach, Uterine leiomyoma, ... ORPHA:220460
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Renal angiomyolipoma,... ORPHA:276152
Alazami-Yuan Syndrome
Hyperactivity OMIM:617126
46,Xx Sex Reversal 2
True hermaphroditism, Sex reversal, Bifid scrotum, Azoospermia, Hypoplasia of the vagina, Micrope... OMIM:278850
Spermatogenic Failure 15
Non-obstructive azoospermia OMIM:616950
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypospadias, Carcinoma, Laryngeal carcinoma, External genital hypoplasia, Clitoral hypertrophy, A... OMIM:610644
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Infertility, Aplasia/hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Abse... ORPHA:2232
Fanconi Anemia, Complementation Group A
Neutropenia, Leukemia, Anemia, Male infertility, Reticulocytopenia, Hypergonadotropic hypogonadis... OMIM:227650
Yellow Nail Syndrome
Neoplasm of the lung, Biliary tract neoplasm, Hypoplasia of lymphatic vessels, Neoplasm, Sarcoma,... ORPHA:662
Optic Atrophy 11
Dysmetria, Hyperactivity, Ataxia OMIM:617302
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Trisomy 20P
Hypospadias, Macroorchidism, Cryptorchidism ORPHA:261318
Primary Ciliary Dyskinesia
Asplenia, Abnormal sperm motility, Female infertility, Male infertility, Polysplenia ORPHA:244
Cowden Syndrome
Neoplasm of the skin, Meningioma, Goiter, Endometrial carcinoma, Papilloma, Conjunctival hamartom... ORPHA:201
Cowden Syndrome 1
Meningioma, Transitional cell carcinoma of the bladder, Goiter, Carcinoma, Thyroid adenoma, Varic... OMIM:158350
Beta-Thalassemia Intermedia
Adrenal insufficiency, Splenomegaly, Hepatosplenomegaly, Diabetes mellitus, Anemia of inadequate ... ORPHA:231222
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Testicular atrophy, Secondary amenorrhea, Primary amenorrhea, Premature ovarian insufficiency, Hy... OMIM:157640
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity OMIM:618342
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility, Polysplenia OMIM:619608
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder OMIM:618504
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Dystonia, Athetosis, Ataxia ORPHA:382
Coccidioidomycosis
Abnormal sperm morphology, Abnormality of the spleen, Mediastinal lymphadenopathy, Abnormality of... ORPHA:228123
Paraneoplastic Pemphigus
Sarcoma, B-cell lymphoma, Thymoma ORPHA:63455
Aarskog-Scott Syndrome
Testicular atrophy, Elevated circulating follicle stimulating hormone level, Elevated circulating... OMIM:305400
Familial Adenomatous Polyposis
Astrocytoma, Neoplasm of the gallbladder, Cholangiocarcinoma, Goiter, Adenomatous colonic polypos... ORPHA:733
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Abnormality of the Leydig cells, Testicular atrophy, Cryptorchidism ORPHA:3063
Gand Syndrome
Hyperactivity OMIM:615074
Phenylketonuria
Hyperactivity, Attention deficit hyperactivity disorder OMIM:261600
Large Congenital Melanocytic Nevus
Cutaneous melanoma, Neoplasm of the skin, Rhabdomyosarcoma, Neoplasm, Sarcoma ORPHA:626
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Ataxia, Broad-based gait ORPHA:411515
Mastocytosis
Hepatomegaly, Acute leukemia, Chronic leukemia, Splenomegaly, Sarcoma, Mastocytosis ORPHA:98292
Autosomal Recessive Non-Syndromic Intellectual Disability
Hyperactivity, Dystonia ORPHA:88616
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility ORPHA:2239
Mental Retardation, Autosomal Recessive 13
Hyperactivity OMIM:613192
Mental Retardation, Autosomal Recessive 61
Hyperactivity OMIM:617773
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Pancreatic hypoplasia, Azoospermia, Lymphadenopathy, Retroperitoneal fibrosis, Card... OMIM:602782
Clark-Baraitser Syndrome
Hyperactivity OMIM:617752
Intellectual Developmental Disorder, Autosomal Recessive 38
Unsteady gait, Hyperactivity OMIM:615516
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Hyperactivity, Broad-based gait OMIM:617865
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Broad-based gait ORPHA:457260
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Spontaneous abortion,... ORPHA:2133
Acromesomelic Dysplasia, Grebe Type
Sarcoma ORPHA:2098
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301013
Liposarcoma
Sarcoma ORPHA:69078
Proteus Syndrome
Ovarian neoplasm, Thymus hyperplasia, Meningioma, Neoplasm of the thymus, Visceral angiomatosis, ... ORPHA:744
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Inability to walk OMIM:618718
Cln5 Disease
Dysmetria, Hyperactivity, Inability to walk, Dysdiadochokinesis, Ataxia, Truncal ataxia, Unsteady... ORPHA:228360
Landau-Kleffner Syndrome
Steppage gait, Hyperactivity, Attention deficit hyperactivity disorder, Gait ataxia ORPHA:98818
Hyperparathyroidism-Jaw Tumor Syndrome
Elevated circulating parathyroid hormone level, Thyroid carcinoma, Uterine leiomyoma, Pancreatic ... ORPHA:99880
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Dysmenorrhea, Oligomenorrhea, Hepatocellular carcinoma, Portal fibrosis, Hepatic fi... ORPHA:370
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Dystonia, Inability to walk, Gait ataxia ORPHA:500180
Tetrasomy 9P
Oligospermia, Infertility, Absent gallbladder, Jaundice, Pachygyria, Micropenis, Biliary atresia,... ORPHA:3310
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Esophageal neoplasm, Diffuse leiomyomatosis, Abnormality of the female genitalia, Fibroma, Vagina... ORPHA:1018
Rubinstein-Taybi Syndrome 2
Hyperactivity OMIM:613684
Parathyroid Carcinoma
Elevated circulating parathyroid hormone level, Thyroid carcinoma, Parathyroid carcinoma, Uterine... ORPHA:143
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity OMIM:615824
Autosomal Dominant Polycystic Kidney Disease
Pancreatic cysts, Reduced sperm motility, Pituitary growth hormone cell adenoma, Hepatic cysts, P... ORPHA:730
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the thymus, Anemia, Patent duct... OMIM:612541
Renal Cysts And Diabetes Syndrome
Hypospadias, Atretic vas deferens, Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Redu... OMIM:137920
Multiple Endocrine Neoplasia Type 1
Thyroid carcinoma, Meningioma, Goiter, Gingival fibromatosis, Increased circulating cortisol leve... ORPHA:652
Lesch-Nyhan Syndrome
Testicular atrophy, Megaloblastic anemia OMIM:300322
Gastrointestinal Stromal Tumor
Neoplasm of the rectum, Esophageal neoplasm, Gastrointestinal stroma tumor, Neoplasm of the stoma... ORPHA:44890
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Ataxia OMIM:271980
Familial Adenomatous Polyposis 1
Adrenocortical carcinoma, Osteoma, Astrocytoma, Adrenocortical adenoma, Adenomatous colonic polyp... OMIM:175100
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Attention deficit hyperactivity disorder OMIM:614294
Primary Lipodystrophy
Type II diabetes mellitus, Polycystic ovaries, Menometrorrhagia, Pancreatitis, Splenomegaly, Cirr... ORPHA:90970
Graves Disease, Susceptibility To, 1
Hyperactivity OMIM:275000
Terminal Osseous Dysplasia
Fibroma OMIM:300244
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity ORPHA:397973
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Abdominal situs inversus, Male infertility OMIM:619607
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity OMIM:615286
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperactivity, Gait ataxia, Ataxia, Limb dystonia ORPHA:363400
Sickle Cell Anemia
Leukocytosis, Hepatomegaly, Priapism, Cardiomegaly, Cholelithiasis, Splenomegaly, Increased red c... OMIM:603903
Aicardi Syndrome
Carcinoma, Hemangioma, Hepatoblastoma, Pachygyria, Lipoma, Metastatic angiosarcoma, Polymicrogyri... OMIM:304050
Autoimmune Lymphoproliferative Syndrome
Neoplasm of the skin, Thyroid carcinoma, Elevated proportion of CD4-negative, CD8-negative, alpha... ORPHA:3261
Desmoid Tumor
Fibroma, Neoplasm of the skin, Desmoid tumors, Intestinal polyposis ORPHA:873
Rasmussen Subacute Encephalitis
Hyperactivity, Hemidystonia, Attention deficit hyperactivity disorder, Inability to walk ORPHA:1929
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity OMIM:618314
Ciliary Dyskinesia, Primary, 1
Absent outer dynein arms, Male infertility, Asplenia OMIM:244400
Usmani-Riazuddin Syndrome, Autosomal Dominant
Hyperactivity OMIM:619467
Colorectal Cancer, Susceptibility To, 10
Endometrial carcinoma, Colorectal polyposis, Carcinoma OMIM:612591
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Broad-based gait OMIM:300958
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity ORPHA:101039
Familial Thrombocytosis
Thrombocytosis, Myelodysplasia, Spontaneous abortion, Chronic myelogenous leukemia, Splenomegaly,... ORPHA:71493
Intellectual Developmental Disorder, X-Linked 30
Hyperactivity OMIM:300558
X-Linked Creatine Transporter Deficiency
Hyperactivity, Dystonia, Athetosis, Ataxia ORPHA:52503
Clcn4-Related X-Linked Intellectual Disability Syndrome
Progressive cerebellar ataxia, Hyperactivity, Unsteady gait ORPHA:485350
Retinoblastoma
Rhabdomyosarcoma, Leukemia, Leiomyosarcoma, Lymphoma, Ewing sarcoma, Osteosarcoma, Retinoblastoma... ORPHA:790
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity OMIM:619239
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity ORPHA:369939
Myoclonic-Astatic Epilepsy
Unsteady gait, Hyperactivity, Attention deficit hyperactivity disorder, Ataxia ORPHA:1942
Steinert Myotonic Dystrophy
Testicular atrophy, Neoplasm of the skin, Non-medullary thyroid carcinoma, Endometrial carcinoma,... ORPHA:273
Aspartylglucosaminuria
Macroorchidism, Hepatomegaly, Splenomegaly ORPHA:93
Mental Retardation, Autosomal Dominant 7
Hyperactivity, Gait disturbance, Ataxia OMIM:614104
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Hyperactivity OMIM:618089
Noonan Syndrome 1
Hypospadias, Patent ductus arteriosus, Amegakaryocytic thrombocytopenia, Hypogonadism, Neurofibro... OMIM:163950
Mend Syndrome
Hyperactivity OMIM:300960
Alström Syndrome
Oligospermia, Hepatitis, Splenomegaly, Elevated circulating thyroid-stimulating hormone concentra... ORPHA:64
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia ORPHA:530983
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Hyperactivity, Ataxia, Unsteady gait ORPHA:35069
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Insulin-resistant diabetes mellitus at puberty, Polycystic ovaries, Labial hypertro... OMIM:269700
Aspartylglucosaminuria
Macroorchidism, Neutropenia, Hepatomegaly, Vacuolated lymphocytes OMIM:208400
Retinoblastoma
Leukemia, Lymphoma, Osteosarcoma, Retinoblastoma, Pinealoma, Ewing sarcoma OMIM:180200
2Q23.1 Microdeletion Syndrome
Hyperactivity, Ataxia ORPHA:228402
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia OMIM:610042
Lymphedema-Distichiasis Syndrome
Fibrosarcoma, Diabetes mellitus, Patent ductus arteriosus ORPHA:33001
Acrodysostosis 2 With Or Without Hormone Resistance
Hyperactivity OMIM:614613
Neurodegeneration With Brain Iron Accumulation 2B
Dystonia, Dysmetria, Bradykinesia, Hyperactivity, Dysdiadochokinesis, Gait ataxia OMIM:610217
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Fibrosarcoma, Osteosarcoma, Histiocytoma OMIM:112250
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Insulin-resistant diabetes mellitus at puberty, Polycystic ovaries, Labial hypertro... OMIM:608594
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center, Angiosarcoma ORPHA:90186
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hepatomegaly, Patent ductus arteriosus, Splenomegaly, Vaginal atresia, Hydrometrocolpos, Hamartoma OMIM:617088
Myopathy With Extrapyramidal Signs
Hyperactivity, Dystonia, Ataxia, Difficulty walking OMIM:615673
Mucopolysaccharidosis, Type Iiia
Hyperactivity OMIM:252900
X-Linked Adrenoleukodystrophy
Hyperactivity, Gait disturbance, Attention deficit hyperactivity disorder ORPHA:43
Cystinosis, Nephropathic
Hepatomegaly, Splenomegaly, Primary hypothyroidism, Male hypogonadism, Male infertility, Diabetes... OMIM:219800
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Attention deficit hyperactivity disorder ORPHA:73272
Spastic Paraplegia 29, Autosomal Dominant