Gene Summary

Name:
nescient helix loop helix 2
Synonyms:
Hen2,  6230401I09Rik,  NSCL2,  Nscl-2,  bHLHa34

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
abnormal ovary morphology Nhlh2tm1b(KOMP)Mbp HOM Early adult 0.00
male infertility Nhlh2tm1b(KOMP)Mbp HOM Early adult 0.00
small uterus Nhlh2tm1b(KOMP)Mbp HOM Early adult 0.00
abnormal cholesterol homeostasis Nhlh2tm1b(KOMP)Mbp HOM Early adult 1.21×10-08
decreased mean corpuscular hemoglobin concentration Nhlh2tm1b(KOMP)Mbp HOM Early adult 5.81×10-05
absent ovary Nhlh2tm1b(KOMP)Mbp HOM Early adult 0.00
abnormal seminal vesicle morphology Nhlh2tm1b(KOMP)Mbp HOM Early adult 0.00
decreased bone mineral density Nhlh2em1(IMPC)Mbp HOM Early adult 3.45×10-07
decreased lean body mass Nhlh2tm1b(KOMP)Mbp HOM Early adult 9.13×10-08
abnormal uterus morphology Nhlh2tm1b(KOMP)Mbp HOM Early adult 0.00
male infertility Nhlh2em1(IMPC)Mbp HOM Early adult 0.00
decreased kidney weight Nhlh2tm1b(KOMP)Mbp HOM Early adult 4.29×10-08
abnormal epididymis morphology Nhlh2tm1b(KOMP)Mbp HOM Early adult 0.00
eye hemorrhage Nhlh2tm1b(KOMP)Mbp HOM Early adult 4.83×10-10
abnormal urinary bladder morphology Nhlh2em1(IMPC)Mbp HOM Early adult 0.00
decreased lean body mass Nhlh2em1(IMPC)Mbp HOM Early adult 7.06×10-05
decreased bone mineral content Nhlh2tm1b(KOMP)Mbp HOM Early adult 2.24×10-17
increased circulating alanine transaminase level Nhlh2tm1b(KOMP)Mbp HOM Early adult 2.24×10-06
female infertility Nhlh2em1(IMPC)Mbp HOM Early adult 0.00
increased spleen weight Nhlh2tm1b(KOMP)Mbp HOM Early adult 4.64×10-06
decreased bone mineral density Nhlh2tm1b(KOMP)Mbp HOM Early adult 2.17×10-26
increased mean corpuscular volume Nhlh2tm1b(KOMP)Mbp HOM Early adult 3.60×10-05
impaired glucose tolerance Nhlh2em1(IMPC)Mbp HOM Early adult 2.06×10-06
preweaning lethality, incomplete penetrance Nhlh2tm1b(KOMP)Mbp HOM Early adult 0.00
abnormal testis morphology Nhlh2tm1b(KOMP)Mbp HOM Early adult 0.00
decreased bone mineral content Nhlh2em1(IMPC)Mbp HOM Early adult 6.48×10-09
absent epididymis Nhlh2tm1b(KOMP)Mbp HOM Early adult 0.00
female infertility Nhlh2tm1b(KOMP)Mbp HOM Early adult 0.00
abnormal bone structure Nhlh2tm1b(KOMP)Mbp HOM Early adult 6.10×10-09
decreased locomotor activity Nhlh2em1(IMPC)Mbp HOM Early adult 5.63×10-05
increased total body fat amount Nhlh2tm1b(KOMP)Mbp HOM Early adult 5.13×10-09
absent testes Nhlh2tm1b(KOMP)Mbp HOM Early adult 0.00
absent seminal vesicle Nhlh2tm1b(KOMP)Mbp HOM Early adult 0.00
increased circulating aspartate transaminase level Nhlh2tm1b(KOMP)Mbp HOM Early adult 1.99×10-08

Download data as:  TSV  XLS

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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% (5 of 5)
Cerebellum  Wholemount images  Section images heterozygote 80% (4 of 5)
Epididymis  Section images heterozygote 60% (3 of 5)
Esophagus  Section images heterozygote 20% (1 of 5)
Eye  Section images heterozygote 20% (1 of 5)
Ileum  Section images heterozygote 60% (3 of 5)
Midbrain  Wholemount images  Section images heterozygote 100% (5 of 5)
Olfactory lobe  Wholemount images heterozygote 40% (2 of 5)
Pituitary gland  Wholemount images heterozygote 40% (2 of 5)
Spinal cord  Wholemount images heterozygote 40% (2 of 5)
Testis  Wholemount images  Section images heterozygote 60% (3 of 5)
Trachea  Wholemount images heterozygote 20% (1 of 5)
Vas deferens  Section images heterozygote 40% (2 of 5)
Adrenal gland N/A heterozygote 0.0% (0 of 5)
Aorta N/A heterozygote 0.0% (0 of 5)
Blood N/A heterozygote 0.0% (0 of 5)
Bone marrow N/A heterozygote 0.0% (0 of 5)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 5)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 40% (2 of 5)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 40% (2 of 5)
Diaphragm N/A heterozygote 0.0% (0 of 5)
Duodenum N/A heterozygote 0.0% (0 of 5)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 5)
Harderian gland N/A heterozygote 0.0% (0 of 5)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Jejunum N/A heterozygote 20% (1 of 5)
Kidney N/A heterozygote 0.0% (0 of 5)
Large intestine N/A heterozygote 40% (2 of 5)
Liver N/A heterozygote 0.0% (0 of 5)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 5)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 5)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 5)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 5)
Ovary N/A heterozygote 0.0% (0 of 5)
Oviduct N/A heterozygote 0.0% (0 of 5)
Pancreas N/A heterozygote 0.0% (0 of 5)
Parathyroid gland N/A heterozygote 0.0% (0 of 5)
Parotid gland N/A heterozygote 0.0% (0 of 5)
Penis N/A heterozygote 0.0% (0 of 5)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Prostate gland N/A heterozygote 0.0% (0 of 5)
Quadriceps N/A heterozygote 0.0% (0 of 5)
Sciatic nerve N/A heterozygote 0.0% (0 of 5)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 5)
Small intestine N/A heterozygote 60% (3 of 5)
Spleen N/A heterozygote 0.0% (0 of 5)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 40% (2 of 5)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 5)
Submandibular gland N/A heterozygote 0.0% (0 of 5)
Thymus N/A heterozygote 0.0% (0 of 5)
Thyroid gland N/A heterozygote 20% (1 of 5)
Tongue N/A heterozygote 0.0% (0 of 5)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 5)
Urinary bladder N/A heterozygote 0.0% (0 of 5)
Uterus N/A heterozygote 0.0% (0 of 5)
Vagina N/A heterozygote 0.0% (0 of 5)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 5)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Adult LacZ

LacZ Images Section

36 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

20 Images

Adult LacZ

LacZ Images Wholemount

13 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

20 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Human diseases caused by Nhlh2 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 Nhlh2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Absence of secondary sex characteristics, Hypoplasia of the ovary, Impotence, Fe... ORPHA:432
Hypogonadotropic Hypogonadism 27 Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:619755

The table below shows human diseases predicted to be associated to Nhlh2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Leydig Cell Hypoplasia
Absence of secondary sex characteristics, Testicular gonadoblastoma, Aplasia of the uterus, Femal... ORPHA:755
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Polyphagia, Decreased testicular size, Obesity, Hypogonadism, Primary ame... OMIM:614962
Bdv Syndrome
Delayed puberty, Decreased thyroid-stimulating hormone level, Hyperinsulinemia, Reduced TSH respo... OMIM:619326
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Azoospermia, Decreased circulating follicle stimulating hormone concent... OMIM:614837
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size, Ambiguous genitalia, Primary gonadal in... ORPHA:98797
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:616030
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Delayed puberty, Azoospermia, Secondary amenorrhea, Testicular microlithiasis, Decreased circulat... OMIM:228300
X-Linked Intellectual Disability, Van Esch Type
Absence of secondary sex characteristics, Retractile testis, Male hypogonadism, Hypergonadotropic... ORPHA:163976
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:614897
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Infertility, Decre... OMIM:229070
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size, Varicocele, Ambiguous genitalia, Primar... ORPHA:98798
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Unilateral renal agenesis, Azoospermia, Decreased circulating follicle stimulating hormone concen... OMIM:308700
Isolated Follicle Stimulating Hormone Deficiency
Delayed puberty, Azoospermia, Decreased female libido, Oligozoospermia, Testicular atrophy, Delay... ORPHA:52901
X-Linked Intellectual Disability, Cilliers Type
Absence of secondary sex characteristics, Male hypogonadism, Hypospadias, Hypergonadotropic hypog... ORPHA:163971
Partial Chromosome Y Deletion
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr... ORPHA:1646
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Delayed puberty, Absent pubic hair, Hypoplasia of the ovary, Decreased circulating gonadotropin c... OMIM:614841
Syndromic X-Linked Intellectual Disability 7
Hypoplasia of penis, Obesity, Sparse body hair, Hypogonadism, Cryptorchidism, Micropenis ORPHA:85274
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va... ORPHA:168563
Obesity Due To Congenital Leptin Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Pituitary hy... ORPHA:66628
Spermatogenic Failure 30
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism OMIM:618110
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Absence of secondary sex characteristics, Hypoplasia of the ovary, Impotence, Fe... ORPHA:432
Kallmann Syndrome With Spastic Paraplegia
Unilateral renal agenesis, Decreased circulating follicle stimulating hormone concentration, Decr... OMIM:308750
Obesity Due To Leptin Receptor Gene Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Pituitary hy... ORPHA:179494
Chromosome Xq27.3-Q28 Duplication Syndrome
Decreased testicular size, Sparse body hair, Hypogonadism, Abdominal obesity, Increased circulati... OMIM:300869
Spermatogenic Failure 25
Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm... OMIM:617960
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Abnormality of the female genitalia, Male hypogona... ORPHA:261529
Spermatogenic Failure 57
Decreased testicular size, Male infertility, Non-obstructive azoospermia, Spermatogenesis maturat... OMIM:619528
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619145
Spermatogenic Failure 32
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:619831
Testes, Rudimentary
Decreased testicular size, Hypoplastic male external genitalia, Hypergonadotropic hypogonadism OMIM:273150
46,Xy Sex Reversal 11
Decreased cirrculating antimullerian hormone circulation, Abnormal internal genitalia, Aplasia of... OMIM:273250
Prader-Willi syndrome (Type 1)
Truncal obesity, Hypogonadism DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity, Hypogonadism DECIPHER:53
Cone-Rod Dystrophy 1
Hypogonadism OMIM:600624
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Precocious ... ORPHA:90793
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Female infertility, Osteoporosis, Primary amenorrhea OMIM:300604
49,Xxxyy Syndrome
External genital hypoplasia, Abnormality of the testis size, Decreased testicular size, Eunuchoid... ORPHA:261534
Bardet-Biedl Syndrome 11
Obesity, Hypogonadism OMIM:615988
Bardet-Biedl Syndrome 5
Obesity, External genital hypoplasia, Micropenis, Hypogonadism OMIM:615983
Prader-Willi Syndrome Due To Imprinting Mutation
External genital hypoplasia, Hypopigmentation of hair, Polyphagia, Obesity, Hypogonadotropic hypo... ORPHA:177910
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity, Polyphagia, Hypogonadism OMIM:617119
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitor... ORPHA:251510
Spermatogenic Failure 28
Male infertility, Decreased testicular size, Elevated circulating follicle stimulating hormone le... OMIM:618086
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Hypothalamic gonadotropin-releasing hormone deficiency, Primary amenorrh... OMIM:618841
Androgen Insensitivity, Partial
Absent vas deferens, Azoospermia, Infertility, Bifid scrotum, Male pseudohermaphroditism, Cryptor... OMIM:312300
Pituicytoma
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Pituitary hypo... ORPHA:251623
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Abnormal se... ORPHA:90796
49,Xyyyy Syndrome
External genital hypoplasia, Azoospermia, Abnormality of the testis size, Impulsivity, Decreased ... ORPHA:99330
Delayed Puberty, Self-Limited
Delayed puberty, Decreased circulating follicle stimulating hormone concentration, Decreased circ... OMIM:619613
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome
Hypogonadotropic hypogonadism ORPHA:1180
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... ORPHA:453533
Spermatogenic Failure 48
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Xq27.3Q28 Duplication Syndrome
Decreased testicular size, Failure to thrive, Sparse body hair, Hypogonadism, Cryptorchidism, Tru... ORPHA:261483
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
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
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Microphallus, Decreased testicular size, Absence of pubertal development, Primary amenorrhea, Cry... OMIM:614840
Spermatogenic Failure 62
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 88
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:620547
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:614842
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Azoospermia, Abnormal spermatogenesis, Decreased testicular size, Non-ob... ORPHA:399805
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, male, Clitoral hypertrophy, Increased circulating androstenedione concentrat... ORPHA:90791
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Delayed puberty, Decreased circulating follicle stimulating hormone concentration, Decreased circ... OMIM:619761
Bardet-Biedl Syndrome 10
Renal cyst, Obesity, Renal insufficiency, Hypogonadism OMIM:615987
Spermatogenic Failure, X-Linked, 1
Obesity, Sertoli cell-only phenotype OMIM:305700
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Oocyte arrest at metaphase I, Female infertility ORPHA:488191
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:614839
Persistent Mullerian Duct Syndrome, Types I And Ii
Inguinal hernia, Male infertility, Decreased cirrculating antimullerian hormone circulation, Bila... OMIM:261550
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Partial Androgen Insensitivity Syndrome
Blind vagina, Clitoral hypertrophy, Male infertility, Hypospadias, Azoospermia, Aplasia of the ut... ORPHA:90797
Spermatogenic Failure 77
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:620103
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Delayed puberty, Absence of secondary sex characteristics, Small pituitary gland, Impotence, Abno... ORPHA:2232
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Spermatogenic Failure 44
Male infertility, Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreas... OMIM:619044
Ovarian Dysgenesis 2
Delayed puberty, Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogon... OMIM:300510
Sim1-Related Prader-Willi-Like Syndrome
Small pituitary gland, Hypogonadism, Hypothalamic luteinizing hormone-releasing hormone deficienc... ORPHA:398079
Leptin Receptor Deficiency
Delayed puberty, Decreased response to growth hormone stimulation test, Pituitary hypothyroidism,... OMIM:614963
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Decreas... OMIM:262600
Ovarian Dysgenesis 6
Absence of pubertal development, Primary amenorrhea, Hypoplasia of the uterus, Hypergonadotropic ... OMIM:618078
Schaaf-Yang Syndrome
Polyphagia, Camptodactyly, Arthrogryposis multiplex congenita, Impulsivity, Obesity, Skin-picking... OMIM:615547
Luscan-Lumish Syndrome
High anterior hairline, Hirsutism, Overgrowth, Polyphagia, Excessive shyness, Obesity, Polycystic... OMIM:616831
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Polyphagia, Aggressive behavior ORPHA:329249
Hypogonadism, Male
Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias OMIM:241100
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome
Decreased thyroid-stimulating hormone level, Decreased circulating follicle stimulating hormone c... OMIM:620651
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormal hair quantity, High palate, Abnormal testis morphology, Low posterior hairline, Obesity,... ORPHA:2233
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Increased adipose tissue, Polyphagia, Obesity ORPHA:71529
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Spermatogenic Failure 70
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia OMIM:619828
Deafness, Congenital, With Total Albinism
Albinism, Hypogonadism OMIM:220900
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Spermatogenic Failure 22
Male infertility, Cryptozoospermia, Non-obstructive azoospermia OMIM:617706
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Secondary amenorrhea, Hypergonadotropic hypogonadism, Decreased testicular size... ORPHA:3085
Bardet-Biedl Syndrome 4
External genital hypoplasia, Renal cyst, Obesity, Hypogonadism, Cryptorchidism OMIM:615982
Ovarian Dysgenesis 9
Delayed puberty, Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone ci... OMIM:619665
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility, Abnormality of the menstrual cycle OMIM:619011
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce... ORPHA:98754
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce... ORPHA:98793
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity, Cryptorchidism, Thick eyebrow OMIM:309585
47,Xyy Syndrome
Male infertility, Tall stature, Hypospadias, Increased serum testosterone level, Azoospermia, Hyp... ORPHA:8
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce... ORPHA:177904
Perrault Syndrome 4
Premature ovarian insufficiency, Hypoplasia of the ovary, Secondary amenorrhea, Bicornuate uterus... OMIM:615300
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 63
Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility OMIM:619689
Temple Syndrome
Decreased response to growth hormone stimulation test, Polyphagia, Precocious puberty, Obesity, B... ORPHA:254516
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce... ORPHA:177901
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Complete Androgen Insensitivity Syndrome
Delayed puberty, Increased circulating antimullerian hormone concentration, Abnormal circulating ... ORPHA:99429
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Decreased testicular size, Absence of pubertal development, Diabetes mellitus, Obesity, Primary a... OMIM:610628
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Male infertility, Oligozoospermia, Obstructive azoospermia ORPHA:48
Premature Ovarian Failure 7
Gonadal dysgenesis, Clitoral hypertrophy, Premature ovarian insufficiency, Absent pubic hair, Sec... OMIM:612964
Spermatogenic Failure, X-Linked, 6
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Abnormal male ... OMIM:301101
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypoplasia of the uterus, Hypospadias, Decreased fertility in fe... ORPHA:1916
Bardet-Biedl Syndrome 16
External genital hypoplasia, Renal cyst, Obesity, Hypogonadism, Stage 5 chronic kidney disease, R... OMIM:615993
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:616950
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:108420
Spermatogenic Failure 35
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... OMIM:618341
Hydrocephalus-Obesity-Hypogonadism Syndrome
High, narrow palate, Azoospermia, Low posterior hairline, Hypergonadotropic hypogonadism, Abnorma... ORPHA:2183
Magel2-Related Prader-Willi-Like Syndrome
Small pituitary gland, Increased body weight, Temperature instability, Impulsivity, Hypogonadism,... ORPHA:398069
Morbid Obesity And Spermatogenic Failure
Azoospermia, Infertility, Oligozoospermia, Obesity, Type II diabetes mellitus OMIM:615703
Ovarian Dysgenesis 7
Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... OMIM:618117
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Cortisone Reductase Deficiency 1
Infertility, Hirsutism, Precocious puberty, Oligomenorrhea, Obesity, Alopecia OMIM:604931
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Spermatogenic Failure 20
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella OMIM:617593
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Aplasia/Hypoplasia of the testes, Hypoplasia of penis, Hernia of the abdominal wall, Obesity, Cry... ORPHA:3055
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Premature Ovarian Failure 10
Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Decreased testicular size,... OMIM:612885
Müllerian Aplasia And Hyperandrogenism
High anterior hairline, Frontal balding, Increased serum testosterone level, Facial hirsutism, Ab... ORPHA:247768
Perrault Syndrome 6
Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Streak ovary, Hypoplas... OMIM:617565
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia, Abnormal prolactin level, Elevated circulating follicle stimulatin... OMIM:301077
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Tall stature, Long penis, Abnormal hair morphology, Oligozoospermia, Precocious... ORPHA:3000
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Hypoplasia of penis, Decreased testicular size, Eunuchoid habitus, Obesity, Sparse body hair, Typ... ORPHA:2234
45,X/46,Xy Mixed Gonadal Dysgenesis
Delayed puberty, Ambiguous genitalia, male, Bifid scrotum, Low posterior hairline, Cervix cancer,... ORPHA:1772
Spermatogenic Failure 72
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... OMIM:619867
Spermatogenic Failure 34
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:618153
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Infertility, Decreased testicular size, Sparse pubic hair, Sparse axillary hair, Primary amenorrh... OMIM:146110
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic kidney, Unilateral renal agenesis, Endometriosis, Aplasia of the uterus, Ectopic ovary, D... ORPHA:3109
Ovarian Dysgenesis 3
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:614324
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular size, Globozoosper... ORPHA:399808
Spermatogenic Failure, X-Linked, 5
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Reduced pr... OMIM:301099
Spermatogenic Failure 8
Oligozoospermia, Cryptozoospermia, Azoospermia OMIM:613957
Endometriosis, Susceptibility To, 1
Dysmenorrhea, Decreased fertility, Endometriosis OMIM:131200
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Hypospadias, Abnormal vagina morphology, Nephropathy, Cryptorchidism, Obesity, Abnormality of the... OMIM:194072
Spermatogenic Failure 33
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl... OMIM:618152
Spermatogenic Failure 37
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl... OMIM:617576
Spermatogenic Failure 46
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl... OMIM:619095
Spermatogenic Failure 27
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:617965
Obesity, Hyperphagia, And Developmental Delay
Obesity, Polyphagia, Motor stereotypy OMIM:613886
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
48,Xxyy Syndrome
Tall stature, Inguinal hernia, Azoospermia, Hypoplasia of penis, Abnormal dental enamel morpholog... ORPHA:10
Premature Ovarian Failure 18
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Hypopl... OMIM:619203
Wilson-Turner Syndrome
Thick eyebrow, Cryptorchidism, Truncal obesity, Hypogonadotropic hypogonadism ORPHA:3459
Intellectual Developmental Disorder, Autosomal Dominant 72
Tall stature, Polyphagia, Renal hypoplasia, Obesity, Overfriendliness, Attention deficit hyperact... OMIM:620439
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Absence of secondary sex charac... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Absence of secondary sex charac... ORPHA:289548
Spastic Paraparesis And Deafness
Hypogonadism OMIM:312910
Spinocerebellar Ataxia Type 32
Male infertility, Testicular atrophy, Azoospermia ORPHA:276183
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Gonadal dysgenesis, Primary amenorrhea, Hypergonadotropic hypogonadism OMIM:607080
Aarskog-Scott Syndrome
Delayed puberty, Inguinal hernia, Bilateral cryptorchidism, Failure to thrive, Cleft palate, Elev... OMIM:305400
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated... OMIM:614129
Premature Ovarian Failure 6
Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ... OMIM:612310
Spermatogenic Failure 65
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... OMIM:619712
Spermatogenic Failure 43
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Absent sperm... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:617592
Spermatogenic Failure 82
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619094
Spermatogenic Failure 84
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620409
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Infertility, Bifid scrotum, Decreased serum tes... OMIM:278850
2Q23.1 Microdeletion Syndrome
Hypoplasia of penis, Hyperactivity, Highly arched eyebrow, Polyphagia, Synophrys, Generalized hir... ORPHA:228402
Prader-Willi Syndrome
Small pituitary gland, Decreased circulating gonadotropin concentration, Hypogonadism, Small scro... ORPHA:739
Ovarian Dysgenesis 5
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:617690
Mehmo Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Obesity, Cleft palate, Ma... OMIM:300148
46,Xy Sex Reversal 3
Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la... OMIM:612965
48,Xyyy Syndrome
Tall stature, Azoospermia, High palate, Impulsivity, Enamel hypoplasia, Primary gonadal insuffici... ORPHA:99329
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Body Mass Index Quantitative Trait Locus 20
Obesity, Polyphagia OMIM:618406
Premature Ovarian Failure 3
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:300946
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Testicular Anomalies With Or Without Congenital Heart Disease
Abnormality of thyroid physiology, Perineal hypospadias, Corpus cavernosum hypoplasia, Microphall... OMIM:615542
Biemond Syndrome Type 2
Delayed puberty, Hypospadias, Obesity, Hypogonadism, Hypogonadotropic hypogonadism ORPHA:141333
Spermatogenic Failure 56
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm mot... OMIM:619515
Spastic Paraparesis-Deafness Syndrome
Hypogonadism ORPHA:2815
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Absent vas deferens, Male infertility, Azoospermia OMIM:277180
Ovarian Dysgenesis 10
Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating f... OMIM:619834
Ane Syndrome
Lipoatrophy, Delayed puberty, Decreased response to growth hormone stimulation test, Decreased se... ORPHA:157954
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele, Nephrolithiasis OMIM:301060
Functioning Gonadotropic Adenoma
Delayed puberty, Impotence, Ovarian cyst, Decreased female libido, Decreased response to growth h... ORPHA:91348
46,Xx Gonadal Dysgenesis
Delayed puberty, Gonadal dysgenesis, Premature ovarian insufficiency, Abnormality of secondary se... ORPHA:243
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm mot... OMIM:301059
Symptomatic Form Of Hfe-Related Hemochromatosis
Erectile dysfunction, Infertility, Decreased libido, Hypothyroidism, Diabetes mellitus, Weight lo... ORPHA:465508
Premature Ovarian Failure 5
Premature ovarian insufficiency, Hypoplasia of the ovary, Reduced antral follicle count, Secondar... OMIM:611548
Spermatogenic Failure 78
Tapered sperm head, Male infertility, Microcephalic sperm head OMIM:620170
Hemochromatosis, Type 2A
Amenorrhea, Infertility, Hypogonadotropic hypogonadism, Azoospermia OMIM:602390
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... OMIM:620354
Mehmo Syndrome
Agitation, External genital hypoplasia, Hypoplasia of penis, Cryptorchidism, Obesity, Diabetes me... ORPHA:85282
Adrenal Hypoplasia, Congenital
Delayed puberty, Renal salt wasting, Azoospermia, Adrenal hypoplasia, Oligozoospermia, Precocious... OMIM:300200
Polyembryoma
Isosexual precocious puberty, Increased serum testosterone level, Abnormality of the endocrine sy... ORPHA:180229
Spermatogenic Failure 40
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, A... OMIM:618664
Progeria-Short Stature-Pigmented Nevi Syndrome
Delayed puberty, Premature ovarian insufficiency, Neoplasm of the pancreas, Hypospadias, Alopecia... ORPHA:2959
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Obesity, External genital hypoplasia, Hypogonadism, Cryptorchidism ORPHA:363741
Testicular Agenesis
Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Decreased s... ORPHA:325124
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Spermatogenic Failure 80
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced progressi... OMIM:620222
Spermatogenic Failure 76
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... OMIM:620084
Spermatogenic Failure 54
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... OMIM:619379
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Frasier Syndrome
Ambiguous genitalia, male, Renal insufficiency, Focal segmental glomerulosclerosis, Hypergonadotr... ORPHA:347
Deafness-Infertility Syndrome
Abnormal sperm head morphology, Male infertility, Abnormal spermatogenesis, Reduced sperm motilit... OMIM:611102
Hypotonia-Cystinuria Syndrome
Decreased response to growth hormone stimulation test, Polyphagia, Nephrolithiasis, Hypergonadotr... OMIM:606407
Spermatogenic Failure 58
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... OMIM:619585
Prader-Willi Syndrome
Delayed puberty, Temperature instability, Small scrotum, Adrenal insufficiency, Decreased respons... OMIM:176270
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Infertility, Female hypogonadism, Oligomenorrhea, Menorrhagia, Amenorrhea ORPHA:397685
Woodhouse-Sakati Syndrome
Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the uterus, Decreased response to... ORPHA:3464
Oliver-Mcfarlane Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Hypoplasia of penis, Long... OMIM:275400
Narcolepsy Type 1
Precocious puberty, Male sexual dysfunction, Obesity, Restless legs, Nocturia, Restlessness, Atte... ORPHA:2073
Cryptorchidism, Unilateral Or Bilateral
Cryptorchidism, Unilateral cryptorchidism OMIM:219050
Spermatogenic Failure 47
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella OMIM:619102
Deleted in azoospermia
Azoospermia OMIM:400003
Polycystic Ovary Syndrome 1
Hirsutism, Enlarged polycystic ovaries, Oligomenorrhea, Obesity, Amenorrhea OMIM:184700
Obesity And Hypopigmentation
Obesity, Polyphagia OMIM:620195
Spermatogenic Failure 75
Male infertility, Spermatocyte maturation arrest, Elevated circulating follicle stimulating hormo... OMIM:619949
Premature Ovarian Failure 13
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Female infertility, Amen... OMIM:617442
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hypergonadotropic hypogonadism, Azoospermia OMIM:613724
Caudal Appendage-Deafness Syndrome
Cryptorchidism ORPHA:1123
Bardet-Biedl Syndrome 2
Diabetes mellitus, External genital hypoplasia, Obesity, Hypogonadism OMIM:615981
Spermatogenic Failure 39
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Coiled sperm flagell... OMIM:618643
Spermatogenic Failure 17
Male infertility OMIM:617214
Satoyoshi Syndrome
Sparse or absent eyelashes, Abnormal hair morphology, Hypoplasia of the ovary, Abnormality of the... ORPHA:3130
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Decreased response to growth hormone stimulation test, Long eyelashes, Hypothyroidism, Hypogonadi... ORPHA:3363
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Alopecia of scalp, Decreased testicular size, Failure to thrive, Hypogonadism, Decreased serum te... OMIM:201100
Cataract-Deafness-Hypogonadism Syndrome
Generalized hypertrichosis, Hypogonadism ORPHA:1383
48,Xxxy Syndrome
Tall stature, Inguinal hernia, Azoospermia, Hypoplasia of penis, Abnormal dental enamel morpholog... ORPHA:96263
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 14
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615842
Spermatogenic Failure 11
Male infertility, Reduced sperm motility, Oligozoospermia, Abnormal sperm morphology OMIM:615081
Spermatogenic Failure 10
Male infertility, Reduced sperm motility, Oligozoospermia, Abnormal sperm morphology OMIM:614822
Spermatogenic Failure 42
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... OMIM:618745
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Oligozoospermia, Coiled sperm flagella OMIM:620196
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility, Abnormality of the menstrual cycle OMIM:619009
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Obesity Due To Prohormone Convertase I Deficiency
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Childho... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Childho... ORPHA:71526
Woodhouse-Sakati Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Premature ovarian insufficiency, ... OMIM:241080
Bardet-Biedl Syndrome 7
Obesity, Hypogonadism OMIM:615984
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
Progesterone Resistance
Female infertility OMIM:264080
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
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis, Hypergonadotropic hypogonadism ORPHA:1014
Spermatogenic Failure 1
Male infertility, Oligozoospermia, Cryptozoospermia OMIM:258150
Premature Ovarian Failure 21
Precocious puberty in females, Secondary amenorrhea, Elevated circulating follicle stimulating ho... OMIM:620311
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Delayed puberty, Breast hypoplasia, Absence of secondary sex characteristics, Anterior hypopituit... ORPHA:2235
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism OMIM:274205
Bardet-Biedl Syndrome 8
Obesity, Hypospadias, Hypogonadism OMIM:615985
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Obesity, Cryptorchidism, Hypogonadism OMIM:601794
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Spermatogenic Failure 7
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility OMIM:612997
Autosomal Recessive Spastic Paraplegia Type 26
Premature ovarian insufficiency, Pseudobulbar paralysis, Decreased serum testosterone concentration ORPHA:101006
Spermatogenic Failure 41
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm OMIM:618670
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Abnormality of the ovary, Hypogonadism ORPHA:1875
Hyperprolactinemia
Oligomenorrhea, Menorrhagia, Female infertility OMIM:615555
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Pick Disease Of Brain
Inappropriate laughter, Disinhibition, Polyphagia, Motor stereotypy OMIM:172700
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Clitoral hypertrophy, Premature thelarche, D... ORPHA:90795
Estrogen Resistance
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Breast aplasia, Incre... OMIM:615363
Gordon Holmes Syndrome
Secondary amenorrhea, Oligomenorrhea, Absence of pubertal development, Primary amenorrhea, Hypogo... OMIM:212840
Estrogen Resistance Syndrome
Breast hypoplasia, Absence of secondary sex characteristics, Hyperinsulinemia, Tall stature, Abno... ORPHA:785
Premature Ovarian Failure 8
Premature ovarian insufficiency, Ovarian neoplasm, Elevated circulating follicle stimulating horm... OMIM:615723
46,Xy Sex Reversal 1
Gonadal dysgenesis, Abnormal female external genitalia morphology, Absence of secondary sex chara... OMIM:400044
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased response to growth hormone stimulation test, Hypothermia, Decreased thyroid-stimulating... ORPHA:226307
Plin1-Related Familial Partial Lipodystrophy
Lipoatrophy, Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue, Abnormal circulating ... ORPHA:280356
Maternal Uniparental Disomy Of Chromosome X
Azoospermia, Low posterior hairline, Camptodactyly of finger, Flexion contracture, Ambiguous geni... ORPHA:261519
Beta-Thalassemia Intermedia
Reduced bone mineral density, Proximal tubulopathy, Anemia of inadequate production, Splenomegaly... ORPHA:231222
Familial Glucocorticoid Deficiency
Anorexia, Renal salt wasting, Tall stature, Azoospermia, Decreased circulating dehydroepiandroste... ORPHA:361
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Anemia, Azoospermia, Hypochromia, Poikilocytosis, Elevated hepatic iron concentrati... OMIM:615234
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Congenital hem... ORPHA:3202
Ovarian Fibrothecoma
Increased serum testosterone level, Abnormal circulating hormone concentration, Ovarian fibroma, ... ORPHA:314478
Spermatogenic Failure 5
Macrozoospermia, Male infertility, Multiflagellar spermatozoa OMIM:243060
Hao-Fountain Syndrome
Cryptorchidism, Micropenis, Premature adrenarche, Aggressive behavior OMIM:616863
46,Xy Sex Reversal 7
Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, P... OMIM:233420
Sickle Cell Anemia
Reticulocytosis, Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, ... ORPHA:232
Borjeson-Forssman-Lehmann Syndrome
Delayed puberty, Hypoplasia of the prostate, Obesity, Cryptorchidism, Micropenis OMIM:301900
Osteomesopyknosis
Increased bone mineral density, Infertility OMIM:166450
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Delayed puberty, Premature graying of hair, Decreased response to growth hormone stimulation test... ORPHA:280679
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Ectopic kidney, Azoospermia, Bicornuate uterus, Low posterior hairline, Aplasia/hypoplasia of the... ORPHA:2578
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Ambiguous genitalia, male, Hypoplasia of penis, Abnormality of the endocrine system, Bifid scrotu... ORPHA:753
Intellectual Developmental Disorder, Autosomal Dominant 39
Self-mutilation, Obesity, Polyphagia, Aggressive behavior OMIM:616521
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
X-Linked Acrogigantism
Delayed puberty, Enlarged pituitary gland, Tall stature, Decreased thyroid-stimulating hormone le... ORPHA:300373
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Anemia, Enlarged kidney, Abnormality of the lymphatic sys... ORPHA:464329
Hemochromatosis, Type 1
Azoospermia, Impotence, Diabetes mellitus, Amenorrhea, Hypogonadotropic hypogonadism, Testicular ... OMIM:235200
Premature Ovarian Failure 9
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating follicle stimulati... OMIM:615724
Spermatogenic Failure 86
Abnormal sperm head morphology, Male infertility, Acephalic spermatozoa, Acrosomal hypoplasia, Ru... OMIM:620499
Spermatogenic Failure 64
Abnormal sperm head morphology, Oligozoospermia, Male infertility, Reduced progressive sperm moti... OMIM:619696
Bardet-Biedl Syndrome 19
External genital hypoplasia, Renal hypoplasia, Obesity, Hydronephrosis, Hypogonadism, Renal insuf... OMIM:615996
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 87
Male infertility, Ruffled acrosome OMIM:620500
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Kallmann Syndrome
Decreased fertility, Breast hypoplasia, Delayed puberty, Erectile dysfunction, Anterior hypopitui... ORPHA:478
Young Syndrome
Azoospermia OMIM:279000
Kennedy Disease
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Testicular atrophy ORPHA:481
Meningioma
Urinary incontinence, Neoplasm of the tongue, Impotence, Decreased circulating cortisol level, Ab... ORPHA:2495
Spermatogenic Failure 51
Short sperm flagella, Absent sperm axoneme central pair complex, Microcephalic sperm head, Oligoz... OMIM:619177
Spermatogenic Failure 13
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615841
Non-Functioning Pituitary Adenoma
Erectile dysfunction, Impotence, Female hypogonadism, Hypogonadism, Central adrenal insufficiency... ORPHA:91349
Leopard Syndrome 1
Limited elbow movement, Hypospadias, Unilateral renal agenesis, Hypoplasia of the ovary, Delayed ... OMIM:151100
Perrault Syndrome 5
Gonadal dysgenesis, Primary amenorrhea, High palate, Hypergonadotropic hypogonadism OMIM:616138
Renal Cysts And Diabetes Syndrome
Maturity-onset diabetes of the young, Hypospadias, Unilateral renal agenesis, Pancreatic hypoplas... OMIM:137920
Image Syndrome
Hypospadias, Adrenal hypoplasia, Hydronephrosis, Hypogonadism, Cryptorchidism ORPHA:85173
Immune Thrombocytopenia
Purpura, Gastrointestinal hemorrhage, Hematuria, Petechiae, Gingival bleeding, Thrombocytopenia, ... ORPHA:3002
Wagro Syndrome
Hypoplastic female external genitalia, Agitation, Compulsive behaviors, Polyphagia, Decreased tes... OMIM:612469
Leukodystrophy, Hypomyelinating, 21
Failure to thrive, Cryptorchidism, Hypogonadotropic hypogonadism OMIM:619310
Aromatase Deficiency
Male infertility, Tall stature, Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hyperg... ORPHA:91
Ring Chromosome 21 Syndrome
Amenorrhea, Infertility, Diabetes insipidus, Azoospermia ORPHA:1445
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary, Premature ovarian insufficiency OMIM:609993
49,Xxxxy Syndrome
Azoospermia, Hypoplasia of penis, Abnormal dental enamel morphology, Infertility, Excessive shyne... ORPHA:96264
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy, Dysphagia OMIM:313200
Obesity Due To Sim1 Deficiency
Attention deficit hyperactivity disorder, Obesity, Polyphagia ORPHA:369873
Bardet-Biedl Syndrome 9
Polydipsia, Renal insufficiency, Polyphagia, Obesity, Truncal obesity, Irregular menstruation OMIM:615986
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Decreased body weight, Polyphagia OMIM:620085
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Hypothermia, Hypoplasia of penis, Small scrotum, Ambiguous genitalia, Cryptorchidism ORPHA:168593
Urban-Rogers-Meyer Syndrome
Flexion contracture of toe, Hypoplasia of penis, Abnormality of the ureter, Camptodactyly of fing... ORPHA:3409
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Delayed puberty, Aggressive behavior, Hypospadias, Hyperactivity, Decreased testicular size, Hypo... OMIM:300354
Angelman Syndrome
Precocious puberty in females, Tongue thrusting, Hyperactivity, Delayed menarche, Recurrent hand ... ORPHA:72
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Elevated circulating proinsulin concentration, Obesity, Decreased circulating co... OMIM:600955
Morm Syndrome
Hyperactivity, Micropenis, Truncal obesity, Aggressive behavior ORPHA:75858
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
Seckel Syndrome 7
Central hypothyroidism, Hypoplasia of the uterus, Primary amenorrhea OMIM:614851
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Anemia, Hypochromia, Sideroblastic anemia, Decreased mean corpuscular volume, Elevated transferri... OMIM:205950
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Ambiguous genitalia, Polycystic ovaries, Male hypogonadism ORPHA:393
Bone Marrow Failure Syndrome 3
Aplastic anemia, Amelogenesis imperfecta, Hyperechogenic pancreas, Anemia, Acute myeloid leukemia... OMIM:617052
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Huntington Disease
Agitation, Decreased body mass index, Oral-pharyngeal dysphagia, Compulsive behaviors, Polyphagia... ORPHA:399
Panhypophysitis
Polydipsia, Impotence, Abnormal posterior pituitary morphogenesis, Decreased circulating cortisol... ORPHA:95513
Kleine-Levin Syndrome
Polydipsia, Agitation, Abnormal eating behavior, Decreased libido, Polyphagia, Fever, Repetitive ... ORPHA:33543
Crandall Syndrome
Brittle hair, Hypoplasia of penis, Abnormal testis morphology, Sparse body hair, Hypogonadism, Ap... ORPHA:202
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Clitoral hypertrophy, Abnormal ovarian physi... ORPHA:90794
Deafness, Conductive, With Malformed External Ear
Hypogonadism OMIM:221300
Cornelia De Lange Syndrome 5
Truncal obesity, Highly arched eyebrow, Hirsutism, High palate, Long eyelashes, Decreased testicu... OMIM:300882
Xp22.3 Microdeletion Syndrome
Secondary amenorrhea, Ectopic anus, Polycystic ovaries, Decreased fertility, Hypogonadotropic hyp... ORPHA:1643
Trisomy 18P
High, narrow palate, Highly arched eyebrow, Polyphagia, Bilateral cryptorchidism, Pyloric stenosi... ORPHA:1715
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Ectopic kidney, Azoospermia, Bicornuate uterus, Cleft palate, Hypoplas... OMIM:601076
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Hypogonadotropic hypogonadism OMIM:615269
Spermatogenic Failure 81
Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility OMIM:620277
Lipodystrophy, Congenital Generalized, Type 1
Clitoral hypertrophy, Hyperinsulinemia, Tall stature, Decreased serum leptin, Hirsutism, Polyphag... OMIM:608594
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Satoyoshi Syndrome
Amenorrhea, Hypoplasia of the uterus, Alopecia universalis, Alopecia OMIM:600705
Post-Traumatic Pituitary Deficiency
Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes... ORPHA:95619
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Increased serum testosterone level,... ORPHA:206484