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Gene: Cdk4 MGI:88357

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Gene Summary

Name:
cyclin-dependent kinase 4
Synonyms:
p34PSK-J3/cdk4,  Crk3

Order Alleles

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
microphthalmia Cdk4tm1b(NCOM)Mfgc HOM E15.5 0.00
female infertility Cdk4tm1b(NCOM)Mfgc HOM Early adult 0.00
abnormal cranium morphology Cdk4tm1b(NCOM)Mfgc HET   Early adult 2.69×10-05
increased mean corpuscular volume Cdk4tm1b(NCOM)Mfgc HET Early adult 2.34×10-05
preweaning lethality, incomplete penetrance Cdk4tm1b(NCOM)Mfgc HOM   Early adult 0.00
edema Cdk4tm1b(NCOM)Mfgc HOM E15.5 0.00
decreased body length Cdk4tm1b(NCOM)Mfgc HET Early adult 3.32×10-06
abnormal embryo size Cdk4tm1b(NCOM)Mfgc HOM E15.5 0.00
male infertility Cdk4tm1b(NCOM)Mfgc 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

No Adult expression data was found for this gene.

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

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Brain N/A heterozygote 40% (2 of 5)
Brain N/A homozygote Ambiguous
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Ear N/A heterozygote 40% (2 of 5)
Ear N/A homozygote Ambiguous
Embryo N/A heterozygote 40% (2 of 5)
Embryo N/A homozygote Ambiguous
Eye N/A heterozygote 40% (2 of 5)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 40% (2 of 5)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 40% (2 of 5)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 40% (2 of 5)
Forelimb N/A homozygote Ambiguous
Gut N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Handplate N/A heterozygote 40% (2 of 5)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 40% (2 of 5)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 40% (2 of 5)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 40% (2 of 5)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 40% (2 of 5)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 40% (2 of 5)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote 40% (2 of 5)
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 40% (2 of 5)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 40% (2 of 5)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 40% (2 of 5)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Oral cavity N/A heterozygote 40% (2 of 5)
Oral cavity N/A homozygote Ambiguous
Skeleton N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Skin N/A heterozygote 40% (2 of 5)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Tail somite N/A heterozygote 40% (2 of 5)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 40% (2 of 5)
Tail N/A homozygote Ambiguous
Trachea N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Urinary system N/A heterozygote 100% (2 of 2)
N/A Ambiguous

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

Anatomy Background staining in controls (WT)

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

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

Anatomy Background staining in controls(WT)
axial skeleton 1.56% (1 of 64)
brain 1.18% (6 of 510)
central nervous system ganglion 1.37% (1 of 73)
ear 0.2% (1 of 510)
embryo 0.39% (2 of 511)
eye 0.2% (1 of 510)
footplate 0.2% (1 of 510)
forebrain 0.2% (1 of 510)
forelimb 0.2% (1 of 510)
gut 1.69% (1 of 59)
handplate 0.2% (1 of 510)
head 0.98% (5 of 510)
heart 0.2% (1 of 510)
hindbrain 1.18% (6 of 510)
hindlimb 0.2% (1 of 510)
liver 0.2% (1 of 505)
lung 0.2% (1 of 505)
mandibular process 0.2% (1 of 510)
maxillary process 0.2% (1 of 510)
midbrain 0.2% (1 of 510)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 505)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 510)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 510)
tail somite group 0.2% (1 of 510)
trachea 1.69% (1 of 59)
urinary system 1.69% (1 of 59)

Associated Images

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

Gross Pathology and Tissue Collection

Images

12 Images

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Embryo LacZ

LacZ images wholemount

44 Images

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X-ray

XRay Images Whole Body Lateral Orientation

12 Images

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Gross Morphology Embryo E14.5-E15.5

Images

10 Images

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Eye Morphology

Images Ophthalmoscopy

4 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

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X-ray

XRay Images Whole Body Dorso Ventral

12 Images

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Immunophenotyping

Panel A FCS file(s)

4 Images

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Histopathology

Images

12 Images

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Eye Morphology

Images Slit Lamp

3 Images

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Download thumbnail Download
MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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X-ray

XRay Images Skull Lateral Orientation

12 Images

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Immunophenotyping

Panel B FCS file(s)

3 Images

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Combined SHIRPA and Dysmorphology

Images

1 Images

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Human diseases caused by Cdk4 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 Cdk4 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Well-Differentiated Liposarcoma
Abnormal renal physiology ORPHA:99971
Familial Melanoma
Neoplasm of the pancreas ORPHA:618
Melanoma, Cutaneous Malignant, Susceptibility To, 3
OMIM:609048

The table below shows human diseases predicted to be associated to Cdk4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Partial Chromosome Y Deletion
Oligospermia, Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Decreased ... ORPHA:1646
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Spermatogenic Failure 57
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Isochromosomy Yp
Ambiguous genitalia, Male infertility, Decreased testicular size, Primary gonadal insufficiency, ... ORPHA:98797
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Maturity-Onset Diabetes Of The Young, Type 4
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 6
Maturity-onset diabetes of the young OMIM:606394
Maturity-Onset Diabetes Of The Young, Type 14
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:616511
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
Maturity-Onset Diabetes Of The Young, Type 2
Maturity-onset diabetes of the young OMIM:125851
Type 1 Diabetes Mellitus 2
Type I diabetes mellitus, Diabetes mellitus OMIM:125852
Maturity-Onset Diabetes Of The Young, Type 7
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:610508
Type 1 Diabetes Mellitus 20
Type I diabetes mellitus OMIM:612520
Maturity-Onset Diabetes Of The Young, Type 9
Maturity-onset diabetes of the young OMIM:612225
Spermatogenic Failure, X-Linked, 1
Sertoli cell-only phenotype, Obesity OMIM:305700
Isochromosomy Yq
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Primary gonadal ins... ORPHA:98798
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal spermatogenesis, Decreased testicular size, Azoospermia, In... ORPHA:399805
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility OMIM:619108
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
Spermatogenic Failure 73
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619937
Female Infertility Due To Oocyte Meiotic Arrest
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis ORPHA:488191
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Spermatogenic Failure 25
Azoospermia, Cryptozoospermia, Decreased testicular size OMIM:617960
Oocyte Maturation Defect 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 70
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility OMIM:619828
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... OMIM:206000
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Oligospermia, Decreased testicular size OMIM:619689
Oocyte Maturation Defect 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte Maturation Defect 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:206100
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Reduced circulating prolactin concentration, Macroorchidism OMIM:264120
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Spermatogenic Failure 65
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619712
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Spermatogenic Failure 54
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... OMIM:619379
Spermatogenic Failure 56
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619515
Spermatogenic Failure, X-Linked, 3
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... OMIM:301059
Oocyte Maturation Defect 12
Female infertility OMIM:619697
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Spermatogenic Failure 20
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 72
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... OMIM:619867
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatoge... ORPHA:399808
Spermatogenic Failure 40
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... OMIM:618664
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Premature Ovarian Failure 19
Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency OMIM:619245
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:619326
Spermatogenic Failure 39
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... OMIM:618643
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Corneal Dystrophy, Fuchs Endothelial, 3
Edema OMIM:613267
Nanophthalmos 2
Microphthalmia OMIM:609549
Spermatogenic Failure 46
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... OMIM:619095
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Ataxia, Decreased serum testosterone concentration, Leydig cell insensitivity... OMIM:308700
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Anemia, Sideroblastic anemia OMIM:205950
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Ataxia, Leydig cell insensitivity to gonadotropin, Eunuchoid habitus, Micrope... OMIM:308750
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... OMIM:619585
Spermatogenic Failure 51
Microcephalic sperm head, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm mot... OMIM:619177
Spermatogenic Failure 47
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella OMIM:619102
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circul... OMIM:229070
Spermatogenic Failure 1
Cryptozoospermia, Oligospermia, Male infertility OMIM:258150
Spermatogenic Failure, X-Linked, 2
Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Spermatogenic Failure 43
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... OMIM:618751
Spermatogenic Failure 49
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619144
Spermatogenic Failure 45
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619094
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, female, Female infertility, Ambiguous genitalia, m... ORPHA:261529
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... ORPHA:529970
Spermatogenic Failure 41
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head OMIM:618670
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Polyendocrine-Polyneuropathy Syndrome
Ataxia, Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, H... ORPHA:453533
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... OMIM:108420
Spermatogenic Failure 42
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... OMIM:618745
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum testosterone concentration, Micropenis, Decreased circulating follicle stimulatin... OMIM:614897
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Oocyte Maturation Defect 10
Female infertility OMIM:619176
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Oocyte Maturation Defect 1
Female infertility OMIM:615774
Spermatogenic Failure 64
Reduced progressive sperm motility, Abnormal sperm head morphology, Oligospermia, Male infertility OMIM:619696
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Micropenis, Hypogonadotropic hypogonadism, Absence of pubertal development, Primary amenorrhea, D... OMIM:614840
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Broad-based gait, Dysmetria, Micropenis, Hypogonadotropic hypogonadism, Decreased circulating fol... OMIM:619761
Spermatogenic Failure 28
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... OMIM:618086
Spermatogenic Failure, X-Linked, 4
Decreased serum testosterone concentration, Abnormal prolactin level, Elevated circulating lutein... OMIM:301077
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... OMIM:610629
Persistent Mullerian Duct Syndrome, Types I And Ii
Decreased antimullerian hormone level, Bilateral cryptorchidism, Male infertility OMIM:261550
Lipedema
Edema OMIM:614103
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Azoospermia, Testicular microlithiasis, Micropenis, O... OMIM:228300
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Azoospermia, Male hypogonadism OMIM:241000
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 5
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa OMIM:243060
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... OMIM:616950
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Pancreatic islet-cell hyperplasia, Nesidioblastosis OMIM:601820
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Decreased serum testosterone concentration, Delayed menarche, Hypogonadotropi... ORPHA:52901
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Richards-Rundle Syndrome
Hypergonadotropic hypogonadism, Gait disturbance, Ketonuria, Ataxia ORPHA:1399
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Infertility, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased testicular ... OMIM:146110
Premature Ovarian Failure 10
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypo... OMIM:612885
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Gonadotr... OMIM:614837
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... OMIM:619041
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia, Spermatocele OMIM:301060
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Deleted in azoospermia
Azoospermia OMIM:400003
Endometriosis, Susceptibility To, 1
Endometriosis, Dysmenorrhea, Decreased fertility OMIM:131200
Familial Male-Limited Precocious Puberty
Precocious puberty, Oligospermia, Long penis, Male infertility, Macroorchidism ORPHA:3000
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Splenomegaly, Anisopoikilocytosis, Acanthocytosis, Increased m... OMIM:616689
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility ORPHA:276183
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Immotile sperm, Abnormal sperm morphology OMIM:608653
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism, Hyperglycemia OMIM:307500
Premature Ovarian Failure 13
Amenorrhea, Female infertility, Hypoplasia of the uterus, Oligomenorrhea, Elevated circulating fo... OMIM:617442
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia OMIM:261000
Premature Ovarian Failure 20
Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Female infertility... OMIM:619938
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... OMIM:611102
Leydig Cell Hypoplasia
Abnormal external genitalia, Hypergonadotropic hypogonadism, Primary amenorrhea, Hyoplasia of the... ORPHA:755
Richards-Rundle Syndrome
Ataxia, Ketonuria, Primary amenorrhea, Absence of secondary sex characteristics, Hypogonadism OMIM:245100
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Premature Ovarian Failure 6
Female infertility, Hypoplasia of the uterus, Streak ovary, Elevated circulating luteinizing horm... OMIM:612310
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Angioedema, Hereditary, 6
Angioedema, Facial edema, Edema of the dorsum of hands OMIM:619363
Diabetes Mellitus, Permanent Neonatal, 3
Ketonuria, Small for gestational age, Glycosuria, Athetosis, Type I diabetes mellitus, Hyperglycemia OMIM:618857
Spermatogenic Failure 35
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618153
Spermatogenic Failure 18
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617576
Spermatogenic Failure 19
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617592
Prader-Willi syndrome (Type 1)
Truncal obesity, Hypogonadism DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity, Hypogonadism DECIPHER:53
Spermatogenic Failure 38
Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti... OMIM:618433
Delayed Puberty, Self-Limited
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... OMIM:619613
Mody
Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Hyperinsulinemic hypogly... ORPHA:552
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Familial Hyperprolactinemia
Amenorrhea, Infertility, Hemorrhagic ovarian cyst, Oligomenorrhea, Menorrhagia, Female hypogonadism ORPHA:397685
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Morbid Obesity And Spermatogenic Failure
Infertility, Type II diabetes mellitus, Oligospermia, Insulin resistance, Azoospermia, Hepatic st... OMIM:615703
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulati... OMIM:614842
Cerebrooculofacioskeletal Syndrome 3
Intrauterine growth retardation, Edema, Microphthalmia OMIM:616570
Gordon Holmes Syndrome
Hypogonadotropic hypogonadism, Oligomenorrhea, Infertility OMIM:212840
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Glycosuria, Abnormality of circulating leptin level, Proteinuria, Polycystic ov... ORPHA:2298
Lipodystrophy, Familial Partial, Type 3
Type II diabetes mellitus, Hyperinsulinemia, Polycystic ovaries, Cirrhosis, Primary amenorrhea, M... OMIM:604367
Asherman Syndrome
Infertility, Dysmenorrhea, Metrorrhagia, Oligomenorrhea, Abnormality of the menstrual cycle, Decr... ORPHA:137686
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia OMIM:620044
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal vagina morphology, Infertility, Hypoplasia of the uterus, Decreased serum testosterone c... ORPHA:168563
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Truncal obesity OMIM:240900
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... ORPHA:168558
Hyperprolactinemia
Increased circulating prolactin concentration, Infertility, Oligomenorrhea, Menorrhagia OMIM:615555
Adenomyosis
Dysmenorrhea, Adenomyosis OMIM:600458
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... ORPHA:289548
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia OMIM:600496
Frasier Syndrome
Nephrotic syndrome, Ambiguous genitalia, male, Gonadal dysgenesis with female appearance, male, S... ORPHA:347
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:66628
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity, Micropenis OMIM:610156
Familial Pseudohyperkalemia
Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis ORPHA:90044
Nanophthalmos 4
Microphthalmia OMIM:615972
46,Xx Testicular Disorder Of Sex Development
Polycystic ovaries, Ambiguous genitalia, Male hypogonadism, Decreased testicular size ORPHA:393
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the ovary, Hypoplasia of the uterus, Decreased serum testosterone concentration, Mi... OMIM:614841
Renal Cysts And Diabetes Syndrome
Exocrine pancreatic insufficiency, Glycosuria, Biliary tract abnormality, Pancreatic hypoplasia, ... OMIM:137920
Transient Neonatal Diabetes Mellitus
Failure to thrive, Hypoinsulinemia, Small for gestational age, Maturity-onset diabetes of the you... ORPHA:99886
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:179494
Ovarian Dysgenesis 3
Female infertility, Elevated circulating follicle stimulating hormone level, Elevated circulating... OMIM:614324
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Decreased testicular size, Hypogonadism ORPHA:1875
Pituicytoma
Amenorrhea, Abnormality of the pituitary gland, Impotence, Decreased serum testosterone concentra... ORPHA:251623
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Small for gestational age, Diab... OMIM:262190
Bardet-Biedl Syndrome 9
Polydipsia, Irregular menstruation, Truncal obesity, Polyphagia, Renal insufficiency, Obesity, Hy... OMIM:615986
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Aminoaciduria, Hyposthenuria, Glycosuria, Hypercalciuria, Low-molecular-we... OMIM:308990
Type 1 Diabetes Mellitus
Polydipsia, Polyuria, Polyphagia, Diabetes mellitus, Hyperglycemia OMIM:222100
Bardet-Biedl Syndrome 11
Obesity, Hypogonadism OMIM:615988
Hyperinsulinism Due To Hnf4A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Increased hepatic glycogen content... ORPHA:263455
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... ORPHA:251510
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility ORPHA:48
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia OMIM:256450
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Hypergonadotropic hypogonadism, Primary amenorrhea, Gonadal dysgenesis OMIM:607080
Combined Oxidative Phosphorylation Deficiency 54
Hypoesthesia, Impaired vibratory sensation, Hypergonadotropic hypogonadism, Primary amenorrhea, O... OMIM:619737
Kennedy Disease
Testicular atrophy, Erectile dysfunction, Type II diabetes mellitus, Decreased fertility ORPHA:481
Bardet-Biedl Syndrome 17
Polydipsia, Micropenis, Polyuria, Renal cyst, Hypogonadism, Obesity, Stage 5 chronic kidney disease OMIM:615994
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Isolated Permanent Neonatal Diabetes Mellitus
Renal tubular dysfunction, Failure to thrive, Ketonuria, Ataxia, Abnormality of the upper urinary... ORPHA:99885
Microphthalmia, Isolated, With Coloboma 6
Bilateral microphthalmos, Hypoplasia of the fovea, Optic disc hypoplasia OMIM:613703
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Syndromic X-Linked Intellectual Disability 7
Hypoplasia of penis, Micropenis, Hypogonadism, Obesity, Cryptorchidism ORPHA:85274
Androgen Insensitivity, Partial
Infertility, Bifid scrotum, Micropenis, Male pseudohermaphroditism, Absent vas deferens, Hypogona... OMIM:312300
Cystinosis
Renal tubular dysfunction, Failure to thrive, Nephrogenic diabetes insipidus, Polydipsia, Aminoac... ORPHA:213
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... OMIM:619665
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Splenomegaly, Poikilocytosis, Anemia OMIM:615234
Normosmic Congenital Hypogonadotropic Hypogonadism
Increased female libido, Impotence, Hypoplasia of the uterus, Decreased serum testosterone concen... ORPHA:432
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... ORPHA:3202
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Male infertility, Absent vas deferens OMIM:277180
Perrault Syndrome 4
Hypoplasia of the uterus, Hypoplasia of the ovary, Bicornuate uterus, Oligomenorrhea, Primary ame... OMIM:615300
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Abdominal obesity, Decreased response to growth hormone stimulation test, Truncal obesity OMIM:618160
Functioning Gonadotropic Adenoma
Impotence, Ovarian cyst, Central diabetes insipidus, Pituitary gonadotropic cell adenoma, Enlarge... ORPHA:91348
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Obesity, Macroorchidism OMIM:300238
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ketonuria, Ataxia, Premature thelarche, Myoglobinuria, Hypoglycemia, Hypothyroidism, Premature pu... OMIM:616878
Panhypophysitis
Polydipsia, Impotence, Decreased circulating cortisol level, Increased circulating prolactin conc... ORPHA:95513
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... ORPHA:983
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Symptomatic Form Of Hemochromatosis Type 1
Amenorrhea, Infertility, Testicular atrophy, Cholangiocarcinoma, Decreased serum testosterone con... ORPHA:465508
Ochoa Syndrome
Polydipsia, Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Urethral obs... ORPHA:2704
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Failure to thrive, Ketonuria, Ketotic hypoglycemia, Glycosuria ORPHA:2089
Donohue Syndrome
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Severe failure to thrive, Ovari... OMIM:246200
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Failure to thrive, Renal tubular acidosis, Hepatomegaly, Increased he... ORPHA:2088
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia OMIM:617948
Pituitary Dermoid And Epidermoid Cysts
Amenorrhea, Enlarged pituitary gland, Polydipsia, Panhypopituitarism, Oligomenorrhea, Oligospermi... ORPHA:91351
Cystinosis, Nephropathic
Exocrine pancreatic insufficiency, Polydipsia, Hepatomegaly, Glycosuria, Hematuria, Proteinuria, ... OMIM:219800
Renal Hypoplasia
Chronic kidney disease, Polydipsia, Small for gestational age, Abnormal renal tubule morphology, ... ORPHA:93101
46,Xx Gonadal Dysgenesis
Ataxia, Streak ovary, Primary amenorrhea, Gonadal dysgenesis, Aplasia/hypoplasia of the uterus, S... ORPHA:243
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Micropenis, Primary amenorrhea, Decreased testicular size, Cryptorchidism OMIM:614880
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Decreased serum testosterone concentration, Micropenis, Primary amenorrh... OMIM:618841
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity, Cryptorchidism OMIM:309585
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Micropenis, Primary amenorrhea, Decreased testicular size, Hypogonadism, Cryptorchidism OMIM:616030
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hypergonadotropic hypogonadism, Azoospermia, Abnormality of thalamus morphology OMIM:613724
Meningioma
Ataxia, Impotence, Decreased circulating cortisol level, Neoplasm of the posterior pituitary, Abn... ORPHA:2495
Ovarian Dysgenesis 10
Hypoplasia of the ovary, Streak ovary, Elevated circulating luteinizing hormone level, Primary am... OMIM:619834
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Failure to thrive, Nephrogenic diabetes insipidus, Giant cell hepatitis, Renal tubular acidosis, ... OMIM:613404
Fowler Urethral Sphincter Dysfunction Syndrome
Amenorrhea, Dysuria, Abnormality of the urethra, Menorrhagia, Oligomenorrhea, Urinary retention, ... ORPHA:2795
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Bardet-Biedl Syndrome 12
Obesity, Hypogonadism OMIM:615989
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia OMIM:618849
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Renal Glucosuria
Polydipsia, Polyuria, Glycosuria, Polyphagia, Enuresis nocturna OMIM:233100
Spermatogenic Failure 6
Globozoospermia, Male infertility, Decreased acrosin in sperm head OMIM:102530
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Azoospermia, Abnormality of the hypothalamus-pituitary axis, Obesity ORPHA:2183
Adrenal Hypoplasia, Congenital
Adrenal insufficiency, Decreased circulating aldosterone level, Precocious puberty, Decreased cir... OMIM:300200
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Polydipsia, Bicornuate uterus, Aplasia/Hypoplasia of the pancreas, Renal agenesis, Hypospadias, P... ORPHA:93111
Partial Androgen Insensitivity Syndrome
Abnormal circulating estrogen level, Blind vagina, Primary amenorrhea, Ambiguous genitalia, Clito... ORPHA:90797
Premature Ovarian Failure 18
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... OMIM:619203
Wolfram Syndrome
Dysuria, Ataxia, Polydipsia, Abnormality of the urinary system, Recurrent urinary tract infection... ORPHA:3463
Gombo Syndrome
Microphthalmia OMIM:233270
Glutaric Acidemia I
Failure to thrive, Ketonuria, Hepatomegaly, Hypoglycemia, Choreoathetosis, Glutaric aciduria OMIM:231670
Young Syndrome
Azoospermia OMIM:279000
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
46,Xy Sex Reversal 1
Sex reversal, Male pseudohermaphroditism, Abnormality of male external genitalia, Primary amenorr... OMIM:400044
Plin1-Related Familial Partial Lipodystrophy
Infertility, Hyperinsulinemia, Oligomenorrhea, Insulin-resistant diabetes mellitus at puberty, Ab... ORPHA:280356
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Abnormal vagina morphology, Streak ovary, Hypospadias, Nephroblastoma, Nephropathy, Abnormality o... OMIM:194072
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Ovarian Dysgenesis 2
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Secon... OMIM:300510
47,Xyy Syndrome
Increased serum testosterone level, Hyperactivity, Cryptorchidism, Micropenis, Hypospadias, Oligo... ORPHA:8
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Urogenital sinus anomaly, Abnormality of the endocrine system, Hypoplasia of penis, Ambiguous gen... ORPHA:753
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Prolonged ne... ORPHA:226307
Invasive Mole
Menometrorrhagia ORPHA:99925
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Failure to thrive, Ketonuria, Elevated urinary 3-methylcrotonylglycine level, Hypoglycemia, Acute... OMIM:210200
X-Linked Intellectual Disability, Shashi Type
Obesity, Macroorchidism ORPHA:85286
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Secondary amenorrhea... ORPHA:3085
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Solitary Fibrous Tumor/Hemangiopericytoma
Neoplasm of the liver, Hypoinsulinemia, Uterine neoplasm, Prostate cancer, Abnormality of the per... ORPHA:2126
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Increased hepatic glycogen content, Hypoketotic hypog... ORPHA:293964
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Increased circulating androgen concentration, Increased serum testost... ORPHA:769
Hemochromatosis, Type 2A
Amenorrhea, Infertility, Hypogonadotropic hypogonadism, Azoospermia OMIM:602390
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Obesity, Cryptorchidism, Hypoplasia of penis, Aplasia/Hypoplasia of the testes ORPHA:3055
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Ketonuria, Hepatomegaly, Hypoglycemia, Renal steatosis, Impaired gluconeogenesis, Fasting hypogly... OMIM:261680
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Megalencephaly
Macroorchidism, Truncal obesity, Long penis ORPHA:2477
Beta-Ketothiolase Deficiency
Ketonuria, Ataxia, Hepatomegaly, Oral aversion, Hypoglycemia, Weight loss, Hyperglycemia ORPHA:134
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Anisocytosis, Poikilocytosis, Anemia, Abnormal erythrocyte mor... ORPHA:98870
Premature Ovarian Failure 8
Ovarian neoplasm, Streak ovary, Elevated circulating luteinizing hormone level, Primary amenorrhe... OMIM:615723
Premature Ovarian Failure 5
Hypoplasia of the ovary, Streak ovary, Reduced antral follicle count, Primary amenorrhea, Seconda... OMIM:611548
Mccune-Albright Syndrome
Abnormal endocrine physiology, Pancreatitis, Ovarian cyst, Cholestasis, Hepatocellular adenoma, I... ORPHA:562
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Renal tubular dysfunction, Failure to thrive, Ataxia, Hepatomegaly, Aminoaciduria, Glycosuria, Re... ORPHA:436271
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary, Irregular menstruation, Primary amenorrhea, Secondary ame... OMIM:617565
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Unilateral renal atrophy, Nephritis, Oligospermia, Renal dysplasia, Pyelonephritis, Cryptorchidism OMIM:314300
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Decreased serum testosterone concentration, Gonadal dysgenesis with fem... OMIM:273250
Frasier Syndrome
Ovarian gonadoblastoma, Nephrotic syndrome, Male pseudohermaphroditism, Primary amenorrhea, Gonad... OMIM:136680
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... ORPHA:2138
East Syndrome
Ataxia, Inability to walk, Polydipsia, Salt craving, Increased circulating renin level, Renal mag... ORPHA:199343
Septo-Optic Dysplasia Spectrum
Polydipsia, Hypoplasia of penis, Abnormality of the hypothalamus-pituitary axis, Maternal diabete... ORPHA:3157
Hypogonadotropic Hypogonadism 27 Without Anosmia
Absence of pubertal development, Decreased circulating follicle stimulating hormone concentration... OMIM:619755
Lymphatic Malformation 11
Lymphedema, Pedal edema OMIM:619401
Hyperparathyroidism, Neonatal Severe
Failure to thrive, Polydipsia, Hepatomegaly, Aminoaciduria, Splenomegaly, Elevated circulating pa... OMIM:239200
Multiple Acyl-Coa Dehydrogenase Deficiency
Renal cortical cysts, Hepatomegaly, Glycosuria, Neonatal death, Hypoglycemia, Generalized aminoac... OMIM:231680
Hypothyroidism, Congenital, Nongoitrous, 8
Secondary amenorrhea, Inappropriately normal thyroid-stimulating hormone level, Central hypothyro... OMIM:301033
Autism, Susceptibility To, 3
Increased serum serotonin, Ketonuria OMIM:608049
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, female, Decreased fertility in males, Decreased circulating cortisol level, ... ORPHA:90791
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Dyspareunia, Dysmenorrhea, Metrorrhagia, Renal agenesis, Uterus didelphys, Abnormal uterine cervi... ORPHA:3411
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Renal tubular dysfunction, Failure to thrive, Ataxia, Hepatomegaly, Aminoaciduria, Glycosuria, Tr... OMIM:220110
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Primary amenorrhea, Delayed puberty OMIM:618117
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Hypospadias, Decreased fertility in females... ORPHA:1916
Nephronophthisis-Like Nephropathy 2
Polydipsia, Polyuria, Periglomerular fibrosis, Renal insufficiency, Tubular luminal dilatation, S... OMIM:619468
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Primary amenorrhea, Gonadal dysgenesis OMIM:233300
Bardet-Biedl Syndrome 5
Obesity, Hypogonadism, External genital hypoplasia, Micropenis OMIM:615983
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Decreased testicular size OMIM:614858
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hepatomegaly, Aminoaciduria, Glycosuria, Hypoglycemia, Large for gestational age, Proteinuria, Di... OMIM:616026
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Parathyroid Carcinoma
Nephrolithiasis, Abnormality of the parathyroid morphology, Polydipsia, Thyroid carcinoma, Pancre... ORPHA:143
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Severe failure to thrive, Hyperglycemia OMIM:601410
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Bardet-Biedl Syndrome
Nephrotic syndrome, Hypoplasia of the ovary, Hypoplasia of penis, Multicystic kidney dysplasia, H... ORPHA:110
Galactokinase Deficiency
Increased level of galactitol in urine, Failure to thrive, Hyperinsulinemia, Hepatomegaly, Small ... ORPHA:79237
Aromatase Deficiency
Ambiguous genitalia, female, Female infertility, Type II diabetes mellitus, Hypergonadotropic hyp... ORPHA:91
Greig Cephalopolysyndactyly Syndrome
Hypospadias, Cryptorchidism, Hyperglycemia OMIM:175700
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Decreased circulating free T3, Increased circulating ... ORPHA:171706
Atkin-Flaitz Syndrome
Obesity, Macroorchidism ORPHA:1193
Leptin Deficiency Or Dysfunction
Micropenis, Primary amenorrhea, Decreased serum leptin, Decreased testicular size, Hypogonadism OMIM:614962
Familial Renal Glucosuria
Renal tubular dysfunction, Recurrent urinary tract infections, Nephropathy, Glycosuria ORPHA:69076
Central Diabetes Insipidus
Failure to thrive, Polydipsia, Nocturia, Weight loss, Diabetes insipidus ORPHA:178029
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Micropenis, Hypogonadotropic hypogonadism, Absence of pubertal development, Primary amenorrhea, D... OMIM:610628
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Glycosuria, Hematuria, Tubulointerstitial nephritis, Proteinuria, Stage 5 chron... OMIM:614817
Pediatric-Onset Graves Disease
Failure to thrive, Polydipsia, Graves disease, Hepatomegaly, Hyperactivity, Splenomegaly, Increas... ORPHA:525731
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Retinitis Pigmentosa
Hyperinsulinemia, Type II diabetes mellitus, Hypoplasia of penis, Hypogonadism, Obesity, Abnormal... ORPHA:791
Polycystic Ovary Syndrome 1
Amenorrhea, Oligomenorrhea, Enlarged polycystic ovaries OMIM:184700
Prolactin Deficiency, Isolated
Infertility, Irregular menstruation, Reduced circulating prolactin concentration OMIM:264110
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Failure to thrive, Ataxia, Hepatomegaly, Polyuria, Type I diabetes mellitus, Proximal tubulopathy OMIM:560000
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Infertility, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Abnormality of the urethr... ORPHA:752
Whipple Disease
Ataxia, Polydipsia, Hepatomegaly, Splenomegaly, Cachexia, Hypothyroidism, Erectile dysfunction, I... ORPHA:3452
Fanconi Renotubular Syndrome 2
Glycosuria, Hypercalciuria, Generalized aminoaciduria, Renal insufficiency, Proximal tubulopathy OMIM:613388
Premature Ovarian Failure 7
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Gon... OMIM:612964
Senior-Loken Syndrome 4
Polyuria, Polydipsia, Nephronophthisis, Stage 5 chronic kidney disease OMIM:606996
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypoplasia of the ovary, Reduced circulating prolactin concentration, Hypogonadotropic hypogonadi... ORPHA:2235
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia, Ketonuria OMIM:616095
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis, Hypogonadotropic hypogonadism ORPHA:242
Hyperparathyroidism-Jaw Tumor Syndrome
Nephrolithiasis, Abnormality of the parathyroid morphology, Polydipsia, Thyroid carcinoma, Pancre... ORPHA:99880
49,Xyyyy Syndrome
Abnormality of the testis size, Decreased serum testosterone concentration, External genital hypo... ORPHA:99330
Hypogonadism-Cataract Syndrome
Infertility, Elevated circulating follicle stimulating hormone level, Male hypogonadism, Hypogona... OMIM:240950
Diabetes Insipidus, Neurohypophyseal, X-Linked
Central diabetes insipidus, Polyuria, Hydronephrosis, Polydipsia OMIM:304900
Erdheim-Chester Disease
Dysuria, Ataxia, Polydipsia, Hypogonadotropic hypogonadism, Retroperitoneal fibrosis, Renal insuf... ORPHA:35687
3-Hydroxy-3-Methylglutaric Aciduria
Ketonuria, Ataxia, Hepatomegaly, Lipid accumulation in hepatocytes, 3-Methylglutaric aciduria, Ac... ORPHA:20
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Ketonuria, Ataxia, Compensated hypothyroidism, Hypoglycemia, Hypoglycemic seizures, Dysphagia ORPHA:480864
Hereditary Amyloidosis With Primary Renal Involvement
Nephrotic syndrome, Hepatomegaly, Renal tubular atrophy, Decreased glomerular filtration rate, Re... ORPHA:85450
Xp22.3 Microdeletion Syndrome
Polycystic ovaries, Hypogonadotropic hypogonadism, Secondary amenorrhea, Decreased fertility ORPHA:1643
Congenital Varicella Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:291
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Increased urine alpha-ketoglutarate concentration, Ketonuria, 3-hydroxydicarboxylic aciduria, Hyp... OMIM:619355
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Ataxia, Polydipsia, Polyuria, Hypocalciuria, Dysdiadochokinesis, Salt craving, Increased circulat... OMIM:612780
X-Linked Intellectual Disability, Van Esch Type
Failure to thrive, Type II diabetes mellitus, Decreased serum testosterone concentration, Cryptor... ORPHA:163976
Familial Glucocorticoid Deficiency
Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Precocious pub... ORPHA:361
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Glucose/Galactose Malabsorption
Abnormal oral glucose tolerance, Failure to thrive, Glycosuria OMIM:606824
Interstitial Cystitis
Abnormal vagina morphology, Dyspareunia, Abnormal labia morphology, Abnormality of the urethra, A... ORPHA:37202
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Gonadoblastoma
Ovarian gonadoblastoma, Increased serum testosterone level, Gonadal dysgenesis with female appear... ORPHA:206484
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Ketonuria, Ataxia, Hepatomegaly, Neonatal death, Lacticaciduria OMIM:619167
Post-Traumatic Pituitary Deficiency
Amenorrhea, Infertility, Abnormal prolactin level, Decreased response to growth hormone stimulati... ORPHA:95619
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ovarian cyst, Decreased circulating cortisol level, Primary amenorrhea, Abnormal re... ORPHA:90793
46,Xx Sex Reversal 1
Sex reversal, Bicornuate uterus, Hypospadias, Elevated circulating luteinizing hormone level, Ovo... OMIM:400045
Dent Disease 1
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Aminoaciduria, Glycosuria, Low-... OMIM:300009
Hemochromatosis, Type 1
Amenorrhea, Glucose intolerance, Testicular atrophy, Impotence, Hepatomegaly, Splenomegaly, Hypog... OMIM:235200
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Increased circulating cortisol level, Increased body weight, Macronodular adre... OMIM:615954
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Nephrolithiasis, Polydipsia, Athetosis, Adrenal hyperplasia, Abnormal circulating renin, Hyperald... ORPHA:369929
Diabetes And Deafness, Maternally Inherited
Unsteady gait, Type II diabetes mellitus, Hyperglycemia OMIM:520000
Glutaric Acidemia Type 3
Failure to thrive, Ketonuria, Glutaric aciduria ORPHA:35706
Atypical Werner Syndrome
Failure to thrive, Hyperinsulinemia, Type II diabetes mellitus, Ovarian neoplasm, Renal neoplasm,... ORPHA:79474
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Cortisone Reductase Deficiency 1
Infertility, Oligomenorrhea, Precocious puberty OMIM:604931
Non-Acquired Panhypopituitarism
Amenorrhea, Infertility, Ectopic anterior pituitary gland, Abnormal prolactin level, Decreased re... ORPHA:90695
Nanophthalmos
Microphthalmia ORPHA:35612
Glucoglycinuria
Hyperglycinuria, Glycosuria OMIM:138070
Hyperaldosteronism, Familial, Type Iii
Polydipsia, Polyuria, Hypercalciuria, Adrenal hyperplasia, Decreased circulating renin level, Hyp... OMIM:613677
Lead Poisoning
Renal tubular dysfunction, Infertility, Chronic kidney disease, Decreased male libido, Reduced sp... ORPHA:330015
Classic Galactosemia
Gait imbalance, Ataxia, Hepatomegaly, Oligomenorrhea, Primary amenorrhea, Decreased fertility in ... ORPHA:79239
Methylmalonyl-Coa Epimerase Deficiency
Failure to thrive, Ketonuria, Methylmalonic aciduria OMIM:251120
Hereditary Central Diabetes Insipidus
Weight loss, Polydipsia, Diabetes insipidus ORPHA:30925
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Small pituitary gland, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptorchidism OMIM:612702
Ovarian Fibrothecoma
Increased serum testosterone level, Abnormal endometrium morphology, Metrorrhagia, Peritonitis, A... ORPHA:314478
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche OMIM:614662
Gitelman Syndrome
Failure to thrive, Ataxia, Polydipsia, Polyuria, Hypocalciuria, Nocturia, Salt craving, Increased... OMIM:263800
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Failure to thrive, Aminoaciduria, Premature ovarian insufficiency ORPHA:2278
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Scorpion Envenomation
Ketonuria, Ataxia, Priapism, Glycosuria, Acute pancreatitis, Acute kidney injury, Paresthesia, Hy... ORPHA:466677
Hypersecretion Of Adrenal Androgens, Familial
Amenorrhea, Premature pubarche, Increased circulating androgen concentration, Adrenal overactivity OMIM:145295
Estrogen Resistance
Glucose intolerance, Hypoplasia of the uterus, Hyperinsulinemia, Primary amenorrhea, Impaired glu... OMIM:615363
Familial Hyperaldosteronism Type Iii
Polydipsia, Hypercalciuria, Adrenal hyperplasia, Abnormal circulating renin, Glucocortocoid-insen... ORPHA:251274
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Bardet-Biedl Syndrome 19
Obesity, External genital hypoplasia, Hypogonadism OMIM:615996
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Failure to thrive, Ketonuria, Hyperglycinuria, Hypoglycemia, Organic aciduria OMIM:210210
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Decreased response to growth hormone stimulation test, Hypergonadotropic hypogonadism, Decreased ... ORPHA:280679
Fanconi Renotubular Syndrome 1
Renal tubular dysfunction, Aminoaciduria, Glycosuria, Proteinuria, Renal insufficiency, Lacticaci... OMIM:134600
Complete Androgen Insensitivity Syndrome
Increased serum testosterone level, Blind vagina, Increased antimullerian hormone level, Abnormal... ORPHA:99429
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Infertility, Impotence, Decreased serum testosterone concentration, Cryptorchidism, Small pituita... ORPHA:2232
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis, Proteinuria, Stage 5 chronic kidney disease OMIM:618913
Generalized Glucocorticoid Resistance Syndrome
Infertility, Decreased circulating aldosterone level, Precocious puberty, Increased circulating c... ORPHA:786
Hypergonadotropic Hypogonadism-Cataract Syndrome
Hypergonadotropic hypogonadism, Primary amenorrhea, Absence of secondary sex characteristics, Sec... ORPHA:2410
Satoyoshi Syndrome
Amenorrhea, Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Ab... ORPHA:3130
Premature Ovarian Failure 1
Increased circulating gonadotropin level, Irregular menstruation, Premature ovarian insufficiency OMIM:311360
Premature Ovarian Failure 15
Oligomenorrhea OMIM:618096
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary, Premature ovarian insufficiency OMIM:609993
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Failure to thrive, Chronic kidney disease, Polydipsia, Aminoaciduria, Gl... ORPHA:411634
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Ataxia, Hyperglycemia OMIM:618970
Dent Disease
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Aminoaci... ORPHA:1652
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Splenomegaly, Anisocytosis, Hepatosplenomegaly, A... OMIM:616860
Pearson Syndrome
Ataxia, Exocrine pancreatic insufficiency, Hepatomegaly, Glycosuria, Proteinuria, Hypoplastic spl... ORPHA:699
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Polycystic ovaries, Diabetes mellitus, Insulin resi...