Gene Summary

Name:
cyclin D2
Synonyms:
Vin-1,  cD2,  Vin1,  2600016F06Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
small testis Ccnd2tm1b(KOMP)Mbp HOM Late adult 0.00
increased circulating iron level Ccnd2tm1b(KOMP)Mbp HOM Late adult 8.69×10-05
hyperactivity Ccnd2tm1b(KOMP)Mbp HOM Early adult 3.39×10-06
decreased total body fat amount Ccnd2tm1b(KOMP)Mbp HOM Late adult 4.34×10-06
trunk curl Ccnd2tm1b(KOMP)Mbp HOM Middle aged adult 2.09×10-05
increased bone mineral content Ccnd2tm1b(KOMP)Mbp HOM Late adult 6.14×10-05
abnormal spine curvature Ccnd2tm1b(KOMP)Mbp HOM Late adult 1.61×10-06
increased fasting circulating glucose level Ccnd2tm1b(KOMP)Mbp HOM Early adult 2.14×10-06
abnormal spine curvature Ccnd2tm1b(KOMP)Mbp HOM Early adult 1.18×10-10
increased circulating phosphate level Ccnd2tm1b(KOMP)Mbp HOM   Late adult 9.68×10-05
increased circulating alkaline phosphatase level Ccnd2tm1b(KOMP)Mbp HOM Late adult 1.39×10-21
increased mean corpuscular volume Ccnd2tm1b(KOMP)Mbp HOM Late adult 3.15×10-06
increased lean body mass Ccnd2tm1b(KOMP)Mbp HOM Late adult 2.42×10-06
increased grip strength Ccnd2tm1b(KOMP)Mbp HOM Late adult 1.89×10-06
abnormal cranium morphology Ccnd2tm1b(KOMP)Mbp HOM Early adult 5.20×10-09
impaired glucose tolerance Ccnd2tm1b(KOMP)Mbp HOM Early adult 3.92×10-18
increased circulating glucose level Ccnd2tm1b(KOMP)Mbp HOM Early adult 3.65×10-07

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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
Brain  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Pituitary gland  Wholemount images heterozygote 50% (1 of 2)
Small intestine  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung 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)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland 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 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Striatum 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 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
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
Brain N/A heterozygote 100% (2 of 2)
Brain N/A homozygote 100% (2 of 2)
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote 50% (1 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Eye N/A homozygote 100% (2 of 2)
Footplate N/A heterozygote 100% (2 of 2)
Footplate N/A homozygote 100% (2 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forebrain N/A homozygote 100% (2 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Forelimb N/A homozygote 100% (2 of 2)
Handplate N/A heterozygote 100% (2 of 2)
Handplate N/A homozygote 100% (2 of 2)
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote 100% (2 of 2)
Heart N/A heterozygote 50% (1 of 2)
Heart N/A homozygote 50% (1 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindbrain N/A homozygote 100% (2 of 2)
Hindlimb N/A heterozygote 100% (2 of 2)
Hindlimb N/A homozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote 50% (1 of 2)
Lung N/A heterozygote Not available
Lung N/A homozygote 50% (1 of 2)
Mandibular process N/A heterozygote 50% (1 of 2)
Mandibular process N/A homozygote 50% (1 of 2)
Maxillary process N/A heterozygote 50% (1 of 2)
Maxillary process N/A homozygote 50% (1 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Midbrain N/A homozygote 100% (2 of 2)
Oral cavity N/A heterozygote 50% (1 of 2)
Oral cavity N/A homozygote 50% (1 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote 50% (1 of 2)
Tail somite N/A heterozygote 50% (1 of 2)
Tail somite N/A homozygote 100% (2 of 2)
Tail N/A heterozygote 100% (2 of 2)
Tail N/A homozygote 100% (2 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 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)
brain 0.0%
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
oral cavity 0.0%
skin 0.0%
tail 0.0%
tail somite group 0.0%

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 Whole Body Lateral Orientation

4 Images

Echo

M-Mode Images

40 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

4 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

1 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

4 Images

Adult LacZ

LacZ Images Wholemount

9 Images

Human diseases caused by Ccnd2 mutations

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

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

The table below shows human diseases associated to Ccnd2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus OMIM:615938
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus ORPHA:83473

The table below shows human diseases predicted to be associated to Ccnd2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cerebellar Degeneration-Related Autoantigen 3
Abnormal cerebellum morphology OMIM:602197
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 8
Azoospermia, Cryptozoospermia, Oligozoospermia OMIM:613957
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect, Cerebellar dysplasia OMIM:615041
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... ORPHA:529970
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spinocerebellar Atrophy With Pupillary Paralysis
Spinocerebellar atrophy OMIM:183100
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Spinocerebellar Ataxia Type 5
Cerebellar atrophy ORPHA:98766
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Spinocerebellar Ataxia Type 41
Cerebellar vermis atrophy ORPHA:458798
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Spinocerebellar Ataxia 45
Cerebellar atrophy OMIM:617769
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Spinocerebellar Ataxia 30
Cerebellar atrophy OMIM:613371
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spinocerebellar Ataxia 41
Cerebellar atrophy, Cerebellar vermis atrophy OMIM:616410
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Cerebral Palsy, Ataxic, Autosomal Recessive
Cerebellar atrophy OMIM:605388
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty OMIM:300604
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Spinocerebellar Ataxia Type 30
Cerebellar vermis atrophy ORPHA:211017
Hyperprolactinemia
Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea, Female infertility OMIM:615555
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... OMIM:205950
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Isochromosomy Yp
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... ORPHA:98797
Cerebellar Atrophy, Developmental Delay, And Seizures
Cerebellar atrophy OMIM:617643
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Cerebellar atrophy OMIM:619333
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4
Cerebellar atrophy OMIM:615268
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Spinocerebellar Ataxia, Autosomal Recessive 24
Cerebellar atrophy OMIM:617133
Autosomal Recessive Spastic Paraplegia Type 32
Abnormal pons morphology, Cerebellar cortical atrophy ORPHA:171622
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Recessive
Cerebellar atrophy OMIM:615596
Ring Chromosome Y Syndrome
Male infertility, Bifid scrotum, Ambiguous genitalia, Streak ovary, Unilateral cryptorchidism, Hy... ORPHA:261529
Periventricular Nodular Heterotopia 8
Cerebellar vermis atrophy OMIM:618185
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Spinocerebellar Ataxia Type 31
Cerebellar atrophy ORPHA:217012
Spinocerebellar Ataxia Type 38
Cerebellar atrophy ORPHA:423296
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi... OMIM:612310
Spinocerebellar Ataxia 37
Cerebellar atrophy OMIM:615945
Chudley-Mccullough Syndrome
Hydrocephalus, Cerebellar hypoplasia, Cerebellar dysplasia OMIM:604213
Spinocerebellar Ataxia 31
Cerebellar atrophy OMIM:117210
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614840
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Isochromosomy Yq
Male infertility, Decreased testicular size, Gonadal tissue inappropriate for external genitalia ... ORPHA:98798
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Dystonia With Cerebellar Atrophy
Cerebellar atrophy OMIM:611694
Ceroid Lipofuscinosis, Neuronal, 11
Cerebellar atrophy OMIM:614706
Asherman Syndrome
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... ORPHA:137686
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Endometriosis, Susceptibility To, 1
Decreased fertility, Dysmenorrhea, Endometriosis OMIM:131200
Hypoparathyroidism, Familial Isolated, 2
Decreased circulating parathyroid hormone level, Hyperphosphatemia, Hypocalcemia, Hypocalcemic se... OMIM:618883
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy
Cerebellar atrophy OMIM:618741
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Intrinsic Factor Deficiency
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... OMIM:261000
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypocalcemia, Pseudohypoparath... OMIM:203330
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... ORPHA:232
Hypogonadism, Male
Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias OMIM:241100
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine
Cerebellar atrophy OMIM:618412
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... OMIM:206100
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Hypoplasia of penis, Male pseudohermaphroditism, Dec... ORPHA:983
Epilepsy, Progressive Myoclonic, 11
Cerebellar atrophy, Cerebellar vermis hypoplasia OMIM:618876
Familial Hyperprolactinemia
Female hypogonadism, Hemorrhagic ovarian cyst, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea ORPHA:397685
Anemia, Hypochromic Microcytic, With Iron Overload 2
Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Decr... OMIM:615234
Premature Ovarian Failure 20
Secondary amenorrhea, Elevated circulating luteinizing hormone level, Elevated circulating follic... OMIM:619938
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Ceroid Lipofuscinosis, Neuronal, 8
Cerebellar atrophy OMIM:600143
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy ORPHA:98769
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ... OMIM:614324
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Cerebellar atrophy OMIM:610003
Pontocerebellar Hypoplasia, Type 1E
Cerebellar atrophy, Cerebellar hypoplasia, Hypoplasia of the pons OMIM:619303
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy OMIM:616187
Pseudohypoparathyroidism, Type Ib
Obesity, Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulating parathyroid hormone le... OMIM:603233
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
3-Methylglutaconic Aciduria, Type Iv
Cerebellar dysplasia OMIM:250951
Spinocerebellar Ataxia, Autosomal Recessive 15
Cerebellar atrophy OMIM:615705
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Parathyroid agenesis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenit... ORPHA:2239
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Scoliosis OMIM:616311
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... OMIM:616689
Pseudopseudohypoparathyroidism
Abnormality of the endocrine system, Obesity, Hyperphosphatemia, Elevated circulating parathyroid... ORPHA:79445
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Increased serum iron, Increased mean corpuscular v... ORPHA:98870
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Cerebellar dysplasia OMIM:616531
Pseudohypoparathyroidism, Type Ic
Elevated circulating thyroid-stimulating hormone concentration, Osteoporosis, Pseudohypoparathyro... OMIM:612462
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... ORPHA:399808
Schizophrenia 15
Hyperactivity OMIM:613950
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154275
Calciphylaxis
Ectopic ossification, Hyperphosphatemia, Secondary hyperparathyroidism, Cellulitis ORPHA:280062
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Hypoparathyroidism, Familial Isolated, 1
Hypoparathyroidism, Decreased circulating parathyroid hormone level, Hyperphosphatemia, Hypocalce... OMIM:146200
Malignant Hyperthermia, Susceptibility To, 3
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154276
Crome Syndrome
Cerebellar dysplasia OMIM:218900
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Hypocalcemia, Autosomal Dominant 1
Decreased circulating parathyroid hormone level, Hypokalemia, Hyperphosphatemia, Increased circul... OMIM:601198
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Hypothyroidism, Reticulocytopenia, Anisopoikilocyto... ORPHA:300298
Pseudohypoparathyroidism, Type Ia
Osteoporosis, Pseudohypoparathyroidism, Obesity, Hyperphosphatemia, Elevated circulating parathyr... OMIM:103580
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Hypercalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Par... OMIM:617994
Morbid Obesity And Spermatogenic Failure
Azoospermia, Type II diabetes mellitus, Infertility, Oligozoospermia OMIM:615703
Blue Diaper Syndrome
Hypercalcemia, Elevated circulating thyroid-stimulating hormone concentration, Increased body wei... ORPHA:94086
Premature Ovarian Failure 5
Streak ovary, Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea, Hypoplas... OMIM:611548
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Dystonia 23
Cerebellar atrophy OMIM:614860
Spinocerebellar Ataxia 11
Cerebellar atrophy OMIM:604432
Bilateral Frontoparietal Polymicrogyria
Hypoplasia of the pons, Abnormal cerebellum morphology, Cerebellar vermis hypoplasia, Cerebellar ... ORPHA:101070
Familial Pseudohyperkalemia
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... ORPHA:90044
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Joubert Syndrome 23
Cerebellar dysplasia OMIM:616490
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy OMIM:617917
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus, Polydipsia, Polyphagia OMIM:222100
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Spleno... OMIM:616860
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea OMIM:614858
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Malignant Hyperthermia, Susceptibility To, 1
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:145600
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia, Polyphagia, Aggressive behavior ORPHA:329249
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Hypophosphatemic Rickets, Autosomal Recessive, 1
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... OMIM:241520
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre... OMIM:146110
Pseudohypoparathyroidism Type 2
Calcinosis, Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulating parathyroid hormone... ORPHA:94090
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Autoimmune Hypoparathyroidism
Increased bone mineral density, Autoimmune hypoparathyroidism, Hyperphosphatemia, Hypocalcemia, H... ORPHA:36913
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy OMIM:616948
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Unilateral cry... OMIM:300946
Poretti-Boltshauser Syndrome
Dilated fourth ventricle, Cerebellar cyst, Cerebellar vermis hypoplasia, Cerebellar dysplasia OMIM:615960
Spinocerebellar Ataxia 4
Cerebellar atrophy OMIM:600223
Bone Marrow Failure Syndrome 6
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphope... OMIM:618849
Spinocerebellar Ataxia 27B, Late-Onset
Cerebellar atrophy OMIM:620174
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Thrombocytopenia, ... OMIM:617021
Spinocerebellar Ataxia 46
Cerebellar atrophy OMIM:617770
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased bone mineral density, Macular scar, Kyphosis, Hydroxyprolinemia, Osteoporos... OMIM:239000
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ... OMIM:241410
Methylcobalamin Deficiency Type Cble
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Osteoporosis, Hyperhomocystinemia, Increased ... ORPHA:2169
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... OMIM:229070
Bone Marrow Failure And Diabetes Mellitus Syndrome
Type I diabetes mellitus, Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphobla... OMIM:620044
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Transient hypophosphatemia, Increased bone mineral density, Small for gestati... OMIM:127000
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Premature Ovarian Failure 3
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea OMIM:608996
Ovarian Dysgenesis 2
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea... OMIM:300510
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... ORPHA:766
Acrodysostosis 1 With Or Without Hormone Resistance
Small for gestational age, Cryptorchidism, Elevated circulating thyroid-stimulating hormone conce... OMIM:101800
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar dysplasia, Hypoplasia of the pons, Hydrocephalus, Cerebellar hypoplasia, Cerebellar cyst OMIM:615181
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim... OMIM:617565
Hypocalcemic Vitamin D-Resistant Rickets
Hyperparathyroidism, Osteomalacia, Bone cyst, Osteolysis, Abnormal form of the vertebral bodies, ... ORPHA:93160
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Hyperostosis, Subperiosteal bone formation, Hyperphosphatemia, Enamel hypoplasia OMIM:211900
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Hemochromatosis, Type 5
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... OMIM:615517
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Essential Fructosuria
Hyperglycemia ORPHA:2056
Pseudohypoparathyroidism Type 1B
Calcinosis, Increased bone mineral density, Decreased response to growth hormone stimulation test... ORPHA:94089
Sanjad-Sakati Syndrome
Hypoparathyroidism, Hypoplasia of penis, Abnormal dental enamel morphology, Patchy osteosclerosis... ORPHA:2323
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Spinocerebellar Ataxia 26
Cerebellar atrophy OMIM:609306
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Diamond-Blackfan Anemia 8
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612563
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Elevated circulating parathyroid hormone level, Hypocalcemia, Hypophosphatemia OMIM:619073
Maturity-Onset Diabetes Of The Young, Type 13
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
Spinocerebellar Ataxia, Autosomal Recessive 14
Cerebellar atrophy OMIM:615386
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Dilated fourth ventricle, Cerebellar dysplasia, Elongated superior cerebellar peduncle, Inferior ... ORPHA:370022
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... ORPHA:1916
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Decreased mean corpuscular volume... OMIM:611590
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia OMIM:618858
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hydrocephalus, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Cerebellar dysplasia OMIM:613155
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Beta-Thalassemia Intermedia
Hypoparathyroidism, Increased HbA2 hemoglobin, Osteopenia, Extramedullary hematopoiesis, Diabetes... ORPHA:231222
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ... ORPHA:398063
Autosomal Dominant Kenny-Caffey Syndrome
Abnormal circulating follicle-stimulating hormone concentration, Cortical thickening of long bone... ORPHA:93325
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Cerebellar atrophy ORPHA:284271
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Dystonia 31
Abnormal posturing OMIM:619565
Spinocerebellar Ataxia, Autosomal Recessive 11
Cerebellar atrophy, Cerebellar vermis atrophy OMIM:614229
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volum... OMIM:185000
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... ORPHA:99886
Joubert Syndrome 30
Cerebellar atrophy, Superior cerebellar dysplasia, Dandy-Walker malformation OMIM:617622
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... OMIM:300200
Pseudohypoparathyroidism Type 1C
Calcinosis, Increased bone mineral density, Hypergonadotropic hypogonadism, Decreased response to... ORPHA:79444
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Familial Isolated Hyperparathyroidism
Osteopenia, Hypercalcemia, Primary hyperparathyroidism, Elevated circulating parathyroid hormone ... ORPHA:99879
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus OMIM:606176
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Oligomenorrhea, Amenorrhea OMIM:184700
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se... ORPHA:206484
Hjv Or Hamp-Related Hemochromatosis
Diabetes mellitus, Increased circulating ferritin concentration, Elevated transferrin saturation,... ORPHA:79230
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... OMIM:228300
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia ORPHA:99845
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Failure to thrive, Aplastic anemia, Pancreatic steatosis, T... OMIM:617052
Majeed Syndrome
Anemia of inadequate production, Microcytic anemia, Flexion contracture, Hepatosplenomegaly, Decr... OMIM:609628
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Hypophosphatemic Bone Disease
Rickets, Osteomalacia, Hypophosphatemia OMIM:146350
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Rickets, Osteomalacia, Hypophosphatemia OMIM:193100
Spastic Paraplegia 39, Autosomal Recessive
Cerebellar atrophy OMIM:612020
Pseudohypoparathyroidism Type 1A
Calcinosis, Increased bone mineral density, Hypergonadotropic hypogonadism, Decreased response to... ORPHA:79443
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Hyperglycemia OMIM:618856
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility, Reduced circulating prolactin concentration OMIM:264110
Autosomal Recessive Spastic Paraplegia Type 39
Cerebellar atrophy ORPHA:139480
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Failure to thrive, Macrocytic anemia, Increased mean corpuscular volume OMIM:612561
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Agenesis of cerebellar vermis, Hypoplasia of the pons, Hydrocephalus, Cerebellar hypoplasia, Cere... OMIM:613153
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... ORPHA:2975
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia OMIM:613839
Shwachman-Diamond Syndrome
Normocytic anemia, Osteopenia, Transient neutropenia, Aplastic anemia, Decreased response to grow... ORPHA:811
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Kyphoscoliosis, Aggressive behavior, Phonic tics, Compulsive behaviors OMIM:301107
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Autosomal Dominant Hypophosphatemic Rickets
Osteomalacia, Rickets, Iron deficiency anemia, Hypocalcemia, Hypophosphatemia ORPHA:89937
Ovarian Dysgenesis 10
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:619834
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... OMIM:614841
Diamond-Blackfan Anemia 7
Osteopenia, Macrocytic anemia, Osteoporosis, Increased mean corpuscular volume, Scoliosis, Neutro... OMIM:612562
Fowler Urethral Sphincter Dysfunction Syndrome
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea ORPHA:2795
Hemochromatosis, Type 2B
Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Seco... OMIM:613313
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Increased m... OMIM:277410
Boucher-Neuhauser Syndrome
Spinocerebellar atrophy, Cerebellar atrophy, Abnormal upper motor neuron morphology OMIM:215470
Spinocerebellar Ataxia 44
Cerebellar atrophy OMIM:617691
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp... ORPHA:94093
Iron Overload, Susceptibility To
Increased circulating ferritin concentration, Elevated transferrin saturation, Elevated circulati... OMIM:620121
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614837
Premature Ovarian Failure 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... OMIM:615724
Congenital Disorder Of Glycosylation, Type Iii
Cerebellar atrophy OMIM:613612
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Hyperactivity, Scoliosis, Bruxism OMIM:300434
Premature Ovarian Failure 8
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
Spinocerebellar Ataxia 15
Cerebellar atrophy OMIM:606658
Hypercalcemia, Infantile, 2
Failure to thrive, Hypercalcemia, Hypophosphatemia OMIM:616963
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Maturity-onset diabetes of the young OMIM:609812
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Female infertility, Goiter OMIM:617577
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
Hemochromatosis, Type 3
Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, Elevated transferrin... OMIM:604250
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti... OMIM:262190
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Mccune-Albright Syndrome
Aneurysmal bone cyst, Hyperthyroidism, Osteomalacia, Precocious puberty, Ovarian cyst, Increased ... ORPHA:562
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Glucose intolerance, Thoracic hemivertebrae, Scoliosis, Fused cervical vertebrae OMIM:309620
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Linear Verrucous Nevus Syndrome
Reduced bone mineral density, Scoliosis, Hypophosphatemia ORPHA:2611
Beta-Thalassemia
Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenome... ORPHA:848
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Tetragametic Chimerism
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:199310
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Hyperglycemia, Glycosuria OMIM:618857
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Dent Disease 2
Umbilical hernia, Elevated circulating creatine kinase concentration, Hypophosphatemia OMIM:300555
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti... ORPHA:86839
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteopenia, Osteoporosis, Hypophosphatemia OMIM:612287
16Q24.3 Microdeletion Syndrome
Cryptorchidism, Kyphosis, Increased mean corpuscular volume, Scoliosis, Thrombocytopenia ORPHA:261250
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating osteocalcin level, Osteomalacia, Decreased circulating parathyroid hormone ... ORPHA:157215
Ovarian Fibrothecoma
Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Abnormal circulating hormone conc... ORPHA:314478
Dominant Beta-Thalassemia
Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra... ORPHA:231226
Autosomal Dominant Hypocalcemia
Reduced bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:428
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcemia, Hypophosphatemia,... OMIM:600081
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt... OMIM:616959
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone... OMIM:616030
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Decreased circulating parathyroid hormone level, Abnormal circulating calcium concentration, Dela... OMIM:241530
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... ORPHA:91351
Beta-Thalassemia Major
Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra... ORPHA:231214
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteopenia, Osteoporosis, Hypophosphatemia OMIM:612286
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Thin bony cortex, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated circ... OMIM:264700
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia ORPHA:423
Gracile Syndrome
Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron OMIM:603358
Hypophosphatemic Rickets And Hyperparathyroidism
Hyperparathyroidism, Hypercalcemia, Parathyroid hyperplasia, Rickets, Elevated circulating parath... OMIM:612089
Aprosencephaly And Cerebellar Dysgenesis
Poorly formed metencephalon, Aprosencephaly, Cerebellar dysplasia OMIM:601374
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly, Abnormality of iron homeostasis ORPHA:75563
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Hemochromatosis, Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Splenomegaly, Increased circulating ferritin co... OMIM:235200
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Fibrous Dysplasia Of Bone
Thyroid carcinoma, Patchy reduction of bone mineral density, Cortical irregularity, Hyperthyroidi... ORPHA:249
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Scoliosis, Attention deficit hyperactivity disorder, Recurrent hand flapping, Abno... OMIM:617600
Vitamin D-Dependent Rickets, Type 2A
Thin bony cortex, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated circ... OMIM:277440
Hypocalcemic Vitamin D-Dependent Rickets
Thin bony cortex, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae,... ORPHA:289157
Genetic Hyperferritinemia Without Iron Overload
Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe... ORPHA:254704
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy, Premature ovarian insufficiency, Female infertility OMIM:619518
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Abnormal repetitive mannerisms, Kyphoscoliosis, Aggressive behavior OMIM:615541
Cystinosis
Nephrogenic diabetes insipidus, Rickets, Hypophosphatemia, Hypokalemia, Delayed puberty, Type I d... ORPHA:213
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypercalcemia, Osteomalacia, Primary hyperparathyroidism, Hypermagnesemia, Multiple lipomas, Hypo... OMIM:600740
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... OMIM:110100
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Splenomegaly, Increased circulating ferritin concentration, Azoosp... OMIM:602390
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Typ... OMIM:604367
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Osteoporosis, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia... OMIM:127550
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Hypophosphatemic Rickets, X-Linked Dominant
Osteomalacia, Abnormal circulating calcium concentration, Enamel hypomineralization, Rickets, Ele... OMIM:307800
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... OMIM:308750
Fanconi Renotubular Syndrome 2
Osteopenia, Osteomalacia, Rickets, Elevated circulating parathyroid hormone level, Hypophosphatemia OMIM:613388
Hypophosphatemic Rickets, X-Linked Recessive
Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosphatemia,... OMIM:300554
Mody
Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis,... ORPHA:552
Diamond-Blackfan Anemia
Acute myeloid leukemia, Hypospadias, Small for gestational age, Pure red cell aplasia, Erythroid ... ORPHA:124
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Dysgenesis of the ... OMIM:617751
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... ORPHA:90796
Diamond-Blackfan Anemia 1
Macrocytic anemia, Failure to thrive, Congenital hypoplastic anemia, Reticulocytopenia, Hypoplast... OMIM:105650
Intellectual Developmental Disorder, Autosomal Dominant 67
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:619927
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hypercalcemia, Splenomegaly, Primary hyperparathyroidism, Elevated circulating parath... OMIM:239200
Lipodystrophy, Familial Partial, Type 1
Insulin-resistant diabetes mellitus, Hyperglycemia OMIM:608600
Satoyoshi Syndrome
Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of... ORPHA:3130
Hemorrhagic Fever-Renal Syndrome
Thrombocytopenia, Leukocytosis, Hyperkalemia, Elevated circulating creatinine concentration, Hype... ORPHA:340
Familial Renal Glucosuria
Hyperglycemia, Insulin resistance, Abnormal oral glucose tolerance, Glycosuria ORPHA:69076
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Hypophosphatemia OMIM:618913
Fanconi Renotubular Syndrome 1
Hypokalemia, Rickets, Osteomalacia, Hypophosphatemia OMIM:134600
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Diabetes mellitus, Hypouricemia, Large for gestational age, Rickets, Hypophosphatemia OMIM:616026
Mohr-Tranebjaerg Syndrome
Abnormal posturing OMIM:304700
Combined Oxidative Phosphorylation Deficiency 55
Elevated circulating creatine kinase concentration, Hypomagnesemia, Thrombocytopenia, Hypophospha... OMIM:619743
Testicular Agenesis
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... ORPHA:325124
Fanconi-Bickel Syndrome
Reduced subcutaneous adipose tissue, Hypouricemia, Osteomalacia, Rickets, Hypophosphatemia, Hypok... OMIM:227810
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia OMIM:617948
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Enlarged cerebellum ORPHA:85165
Hemochromatosis, Type 4
Diabetes mellitus, Increased circulating ferritin concentration, Elevated transferrin saturation,... OMIM:606069
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Cerebellar dysplasia ORPHA:457240
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Lhermitte-Duclos Disease
Hydrocephalus, Enlarged cerebellum ORPHA:65285
Oncogenic Osteomalacia
Fibrous dysplasia of the bones, Abnormal vertebral morphology, Hypocalcemia, Hypophosphatemia ORPHA:352540
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume OMIM:619774
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia... ORPHA:466650
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Scoliosis, Attention deficit hyperactivity disor... OMIM:620141
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Abnormal proportion of CD8-positi... OMIM:212050
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia OMIM:604484
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... OMIM:619827
Metaphyseal Chondrodysplasia, Jansen Type