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Gene: Fam170a MGI:2684939

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Gene Summary

Name:
family with sequence similarity 170, member A
Synonyms:
LOC225497,  Znfd

Order Alleles

IMPC Data Collections

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
male infertility Fam170aem1(IMPC)Tcp 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

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

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Gross Pathology and Tissue Collection

Images

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Immunophenotyping

Panel B FCS file(s)

3 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Histopathology

Images

2 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

3 Images

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Human diseases caused by Fam170a mutations

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

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

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Fam170a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 65
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... OMIM:619712
Spermatogenic Failure 84
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... OMIM:620409
Spermatogenic Failure 56
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:619515
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... OMIM:301059
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Spermatogenic Failure 76
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... OMIM:620084
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... OMIM:619585
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Spermatogenic Failure 51
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea... OMIM:619177
Spermatogenic Failure 79
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia OMIM:620196
Spermatogenic Failure 39
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... OMIM:618643
Spermatogenic Failure 63
Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia OMIM:619689
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Spermatogenic Failure 41
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility OMIM:618670
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:612997
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... OMIM:619696
Partial Chromosome Y Deletion
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... OMIM:617960
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:619828
Spermatogenic Failure 1
Cryptozoospermia, Male infertility, Oligozoospermia OMIM:258150
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility OMIM:620170
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility OMIM:618110
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Spermatogenic Failure 24
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile... OMIM:617959
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph... OMIM:301101
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure, X-Linked, 7
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Spermatogenic Failure 85
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... OMIM:620490
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
Spermatogenic Failure 38
Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm... OMIM:618433
Spermatogenic Failure 8
Cryptozoospermia, Azoospermia, Oligozoospermia OMIM:613957
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis... ORPHA:399808
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Spermatogenic Failure 87
Ruffled acrosome, Male infertility OMIM:620500
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility OMIM:619145
Isochromosomy Yp
Decreased testicular size, Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Male ... ORPHA:98797
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... OMIM:619528
Spermatogenic Failure 44
Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreased testicular size... OMIM:619044
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
Spermatogenic Failure 32
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Ciliary Dyskinesia, Primary, 50
Reduced progressive sperm motility, Short sperm flagella, Absent inner dynein arms, Reduced sperm... OMIM:620356
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Isochromosomy Yq
Varicocele, Decreased testicular size, Azoospermia, Gonadal tissue inappropriate for external gen... ORPHA:98798
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Ciliary Dyskinesia, Primary, 51
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo... OMIM:620438
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Long penis, Tall stature, Oligozoospermia, Macroorchidism, Male infertility ORPHA:3000
Spermatogenic Failure 77
Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor... OMIM:620103
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Prader-Willi syndrome (Type 1)
Hypogonadism, Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Hypogonadism, Truncal obesity DECIPHER:53
Spermatogenic Failure 2
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm... OMIM:108420
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... ORPHA:399805
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Morbid Obesity And Spermatogenic Failure
Azoospermia, Obesity, Type II diabetes mellitus, Oligozoospermia, Infertility OMIM:615703
Deleted in azoospermia
Azoospermia OMIM:400003
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... ORPHA:52901
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility ORPHA:48
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Spermatogenic Failure, X-Linked, 1
Sertoli cell-only phenotype, Obesity OMIM:305700
Syndromic X-Linked Intellectual Disability 7
Hypogonadism, Obesity, Cryptorchidism, Micropenis, Hypoplasia of penis ORPHA:85274
Spermatogenic Failure 15
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin... OMIM:616950
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Bardet-Biedl Syndrome 5
Hypogonadism, External genital hypoplasia, Micropenis, Obesity OMIM:615983
Bardet-Biedl Syndrome 10
Hypogonadism, Obesity OMIM:615987
Young Syndrome
Azoospermia OMIM:279000
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Adrenal Hypoplasia, Congenital
Precocious puberty, Failure to thrive, Absence of pubertal development, Azoospermia, Adrenal insu... OMIM:300200
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Obesity, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism ORPHA:2183
Autosomal Recessive Spastic Paraplegia Type 46
Decreased testicular size, Infertility, Abnormal sperm head morphology, Reduced sperm motility, A... ORPHA:320391
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Decre... OMIM:618086
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper... OMIM:229070
Xq27.3Q28 Duplication Syndrome
Failure to thrive, Hypogonadism, Decreased testicular size, Cryptorchidism, Truncal obesity ORPHA:261483
Leptin Deficiency Or Dysfunction
Hypogonadism, Decreased testicular size, Obesity, Primary amenorrhea, Micropenis, Decreased serum... OMIM:614962
Spermatogenic Failure 14
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615842
Cortisone Reductase Deficiency 1
Precocious puberty, Infertility, Obesity, Oligomenorrhea OMIM:604931
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction ORPHA:481
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:620197
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi... OMIM:612885
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
47,Xyy Syndrome
Varicocele, Tall stature, Azoospermia, Cryptorchidism, Increased serum testosterone level, Oligoz... ORPHA:8
Biemond Syndrome Type 2
Hypogonadism, Obesity, Hypogonadotropic hypogonadism, Delayed puberty, Hypospadias ORPHA:141333
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity, Cryptorchidism OMIM:309585
Functioning Gonadotropic Adenoma
Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f... ORPHA:91348
Spermatogenic Failure 13
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615841
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Amenorrhea, Obesity, Oligomenorrhea OMIM:184700
Bardet-Biedl Syndrome 4
Hypogonadism, External genital hypoplasia, Obesity, Cryptorchidism OMIM:615982
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Bardet-Biedl Syndrome 22
Hypogonadism, Obesity, Large for gestational age OMIM:617119
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Absence of pubertal development, Cryptorchidism, Hypogona... OMIM:614837
Spermatogenic Failure, X-Linked, 4
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos... OMIM:301077
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Hypogonadism, Obesity, Decreased fertility, Abnormal testis morphology ORPHA:2233
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... OMIM:228300
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Hypergonadotropic hypogonadism OMIM:613724
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens, Male infertility OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Absent vas deferens, Male infertility OMIM:277180
Androgen Insensitivity, Partial
Absent vas deferens, Perineal hypospadias, Bifid scrotum, Hypogonadism, Azoospermia, Cryptorchidi... OMIM:312300
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Decreased testicular size, Obesity, Absence of pubertal development, Cryptorchidism, Hypogonadotr... OMIM:610628
Bardet-Biedl Syndrome 8
Hypogonadism, Obesity, Hypospadias OMIM:615985
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Small scrotum, Hypogonadism, Decreased testicular size, Obesity, Abnormality of the thyroid gland... ORPHA:2234
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hypoplasia of penis, Aplasia/Hypoplasia of the testes, Cryptorchidism, Obesity ORPHA:3055
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Azoospermia... OMIM:308700
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Decreased testicular size, Azoospermia, Decreased serum ... OMIM:614897
Bardet-Biedl Syndrome 7
Hypogonadism, Obesity OMIM:615984
Bardet-Biedl Syndrome 2
Hypogonadism, External genital hypoplasia, Obesity, Diabetes mellitus OMIM:615981
Bardet-Biedl Syndrome 16
Hypogonadism, External genital hypoplasia, Obesity OMIM:615993
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility OMIM:261550
Ciliary Dyskinesia, Primary, 34
Immotile sperm, Male infertility, Absent central microtubular pair morphology of respiratory moti... OMIM:617091
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Azoospermia, Infertility, Amenorrhea OMIM:602390
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Hypogonadism, External genital hypoplasia, Obesity, Cryptorchidism ORPHA:363741
Pituitary Dermoid And Epidermoid Cysts
Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Amenorrhea, Hype... ORPHA:91351
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus ORPHA:2578
48,Xyyy Syndrome
Tall stature, Male hypogonadism, Primary gonadal insufficiency, Azoospermia ORPHA:99329
Mehmo Syndrome
Male hypogonadism, Decreased response to growth hormone stimulation test, Obesity, Delayed pubert... OMIM:300148
Ciliary Dyskinesia, Primary, 12
Abnormal central microtubular pair morphology of respiratory motile cilia, Immotile sperm, Reduce... OMIM:612650
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Hypogonadism, Obesity, Cryptorchidism OMIM:601794
Ciliary Dyskinesia, Primary, 11
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility OMIM:612649
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Absence of secondary sex characteristics, Non-obstructive azoospermia, Decreas... ORPHA:432
Ciliary Dyskinesia, Primary, 26
Infertility, Absent outer dynein arms, Reduced sperm motility OMIM:615500
Chromosome Xq27.3-Q28 Duplication Syndrome
Hypogonadism, Decreased testicular size, Decreased serum testosterone concentration, Cryptorchidi... OMIM:300869
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, External genital hypoplasia, Obesity ORPHA:177910
Lead Poisoning
Decreased male libido, Abnormality of the menstrual cycle, Decreased circulating osteocalcin leve... ORPHA:330015
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Absent inner dynein arms, Immotile sperm, Male infertility OMIM:614874
46,Xx Sex Reversal 1
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Tall stature, Azoospermia, ... OMIM:400045
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Immotile sperm, Absent inner dynein a... OMIM:613807
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Decreased testicular size, Obesity, Hyperinsulinemia, Type II diabetes mellitus, Cryptorchidism, ... ORPHA:3085
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Obesity, Delayed puberty, Pituitary hypoth... OMIM:614963
Ciliary Dyskinesia, Primary, 40
Infertility, Azoospermia, Absent outer dynein arms OMIM:618300
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Obesity, Hyperinsulinemia, Ty... OMIM:619326
Narcolepsy Type 1
Precocious puberty, Obesity, Male sexual dysfunction, Female sexual dysfunction ORPHA:2073
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ... ORPHA:90797
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight, Maturity-onset diabetes of the young OMIM:613375
Perrault Syndrome 4
Decreased serum estradiol, Obesity, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, ... OMIM:615300
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... ORPHA:786
Mehmo Syndrome
External genital hypoplasia, Obesity, Cryptorchidism, Micropenis, Hypoplasia of penis, Diabetes m... ORPHA:85282
Proprotein Convertase 1/3 Deficiency
Elevated circulating proinsulin concentration, Obesity, Hypogonadotropic hypogonadism, Decreased ... OMIM:600955
Maternal Uniparental Disomy Of Chromosome X
Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Gonadal tissue inappropriate for... ORPHA:261519
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Reduced sperm motility OMIM:615434
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Cryptorchidism, Hypogo... OMIM:308750
Myotonic Dystrophy 2
Hypogonadism, Type II diabetes mellitus, Oligozoospermia, Elevated circulating follicle stimulati... OMIM:602668
49,Xyyyy Syndrome
Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De... ORPHA:99330
Hemochromatosis, Type 1
Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea, Testicular atrophy, Impotence, Diabetes m... OMIM:235200
Ciliary Dyskinesia With Defective Radial Spokes
Immotile sperm, Absent respiratory ciliary axoneme radial spokes OMIM:242670
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Cortisone Reductase Deficiency 2
Obesity, Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio, Premature... OMIM:614662
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... ORPHA:251510
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Decreased response to growth hormone stimulation test, Decreased testicular size, Azoospermia, De... ORPHA:280679
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Premature ovarian insufficiency, Truncal obesity ORPHA:2928
Ciliary Dyskinesia, Primary, 15
Infertility, Immotile sperm, Abnormal axonemal organization of respiratory motile cilia OMIM:613808
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Abnormal vagina morphology, Abnormality of the uterus, Obesity, Streak ovary, Cryptorchidism, Gon... OMIM:194072
46,Xx Sex Reversal 2
Small scrotum, Elevated circulating luteinizing hormone level, Perineal hypospadias, Bifid scrotu... OMIM:278850
48,Xxyy Syndrome
Decreased testicular size, Azoospermia, Tall stature, Obesity, Cryptorchidism, Type II diabetes m... ORPHA:10
Ring Chromosome 21 Syndrome
Amenorrhea, Azoospermia, Diabetes insipidus, Infertility ORPHA:1445
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Premature ovarian insufficiency, Obesity OMIM:618124
Ciliary Dyskinesia, Primary, 22
Infertility, Absent inner and outer dynein arms, Reduced sperm motility OMIM:615444
Deafness-Hypogonadism Syndrome
Delayed puberty, Hypergonadotropic hypogonadism, Abnormal spermatogenesis ORPHA:90646
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Breast hypoplasia,... ORPHA:2235
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... ORPHA:90791
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Obesity, Reduced circulating prolactin concentration OMIM:264120
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus OMIM:601076
Bardet-Biedl Syndrome 19
Hypogonadism, External genital hypoplasia, Obesity OMIM:615996
Trisomy 5P
Hypoplasia of penis, Obesity ORPHA:1742
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Azoospermia OMIM:615234
Hereditary Amyloidosis With Primary Renal Involvement
Hypogonadism, Weight loss, Oligozoospermia, Abnormal testis morphology, Primary testicular failur... ORPHA:85450
Aromatase Deficiency
Female infertility, Ambiguous genitalia, female, Tall stature, Obesity, Female pseudohermaphrodit... ORPHA:91
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type
Macroorchidism, Obesity OMIM:300238
Wagr Syndrome
Obesity, Ambiguous genitalia, Cryptorchidism, Displacement of the urethral meatus ORPHA:893
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Familial Glucocorticoid Deficiency
Precocious puberty, Leydig cell neoplasia, Abnormal circulating adrenocorticotropin concentration... ORPHA:361
Combined Oxidative Phosphorylation Deficiency 54
Periventricular nodular heterotopia, Obesity, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:619737
Senior-Loken Syndrome 9
Hypogonadism, Obesity OMIM:616629
Kallmann Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Obesity, Breast hypo... ORPHA:478
Gapo Syndrome
Hypogonadism, Amenorrhea, Oligozoospermia, Dysmenorrhea ORPHA:2067
Carney Complex
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level... ORPHA:1359
Laurence-Moon Syndrome
Micropenis, Small scrotum, Obesity OMIM:245800
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Failure to thrive, Breast hypoplasia, Oligozoospermia, Diabetes mellitus, Small for gestational a... OMIM:614813
Sim1-Related Prader-Willi-Like Syndrome
Premature adrenarche, Small scrotum, Absence of pubertal development, Type II diabetes mellitus, ... ORPHA:398079
Laurence-Moon Syndrome
Obesity, Type II diabetes mellitus, Cryptorchidism, Displacement of the urethral meatus, Hypoplas... ORPHA:2377
48,Xxxy Syndrome
Small scrotum, Hypogonadism, Decreased testicular size, Azoospermia, Tall stature, Obesity, Crypt... ORPHA:96263
Adrenocortical Carcinoma
Increased circulating cortisol level, Increased urinary cortisol level, Hyperaldosteronism, Incre... ORPHA:1501
Bardet-Biedl Syndrome 9
Irregular menstruation, Obesity, Truncal obesity OMIM:615986
Temple Syndrome
Precocious puberty, Maturity-onset diabetes of the young, Decreased testicular size, Obesity, Cry... OMIM:616222
Urban-Rogers-Meyer Syndrome
Hypogonadism, Hypoplasia of penis, Obesity, Cryptorchidism ORPHA:3409
Bardet-Biedl Syndrome 3
External genital hypoplasia, Obesity OMIM:600151
Temple Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Obesity, Type II diabe... ORPHA:254516
Atkin-Flaitz Syndrome
Macroorchidism, Obesity ORPHA:1193
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Increased body weight, Cryptorchidism ORPHA:589905
X-Linked Intellectual Disability, Shashi Type
Macroorchidism, Obesity ORPHA:85286
Bardet-Biedl Syndrome 6
External genital hypoplasia, Obesity, Vaginal atresia, Hypospadias, Diabetes mellitus OMIM:605231
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Male hypogonadism, Obesity, Macroorchidism OMIM:300055
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty, Obesity ORPHA:254525
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypogonadism, Adrenal insufficiency, Azoospermia, Hypothyroidism, Abnormality of the hypothalamus... ORPHA:300298
Congenital Myopathy 9A
Obesity, Cryptorchidism OMIM:618822
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ... ORPHA:1772
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Abnormality of the ovary, Obesity, Increased serum testosterone level... ORPHA:247768
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Unilateral cryptorchidism, Large for gestational age, Tall stature, Overgrowth ORPHA:137634
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Absence of se... ORPHA:2232
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Obesity, Cryptorchidism OMIM:615633
Schaaf-Yang Syndrome
Hypogonadism, Failure to thrive in infancy, Obesity, Cryptorchidism, Micropenis OMIM:615547
Bardet-Biedl Syndrome 12
Hypogonadism, Vaginal atresia, Obesity, Hydrometrocolpos OMIM:615989
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... ORPHA:98754
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased serum testosterone concentration, Decreased libido, Hypogonadotropic hypogonadism, Amen... ORPHA:465508
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating luteinizing hormone level, Abnormal female external genitalia morphology, De... ORPHA:95699
Luscan-Lumish Syndrome
Irregular menstruation, Overgrowth, Obesity, Polycystic ovaries OMIM:616831
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Obesity, Maturity-onset diabetes of the young ORPHA:254531
Bloom Syndrome
Azoospermia, Oligozoospermia, Abdominal obesity, Premature ovarian insufficiency, Diabetes mellit... ORPHA:125
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... ORPHA:98793
Magel2-Related Prader-Willi-Like Syndrome
Precocious puberty, Small scrotum, Small pituitary gland, Central hypothyroidism, Failure to thri... ORPHA:398069
Clark-Baraitser syndrome
Tall stature, Macroorchidism, Obesity OMIM:300602
Wilson Disease
Abnormality of the menstrual cycle, Increased body weight, Weight loss, Failure to thrive ORPHA:905
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... ORPHA:177904
Pseudohypoparathyroidism, Type Ic
Elevated circulating parathyroid hormone level, Elevated circulating thyroid-stimulating hormone ... OMIM:612462
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... ORPHA:177901
Carpenter Syndrome
Abnormal reproductive system morphology, External genital hypoplasia, Obesity, Cryptorchidism ORPHA:65759
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Irregular menstruation, Abnormal libido, Pituitary adenoma, Increased circulating cortisol level,... ORPHA:189427
Primary Ciliary Dyskinesia
Abnormal sperm motility, Female infertility, Male infertility ORPHA:244
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Maturity-onset diabetes of the young, Obesity, Cryptorchidism, Truncal obesit... ORPHA:96184
Pseudohypoparathyroidism, Type Ia
Elevated circulating parathyroid hormone level, Hypogonadism, Obesity, Pseudohypoparathyroidism, ... OMIM:103580
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Acrodysostosis 2 With Or Without Hormone Resistance
Congenital hypothyroidism, Obesity, Cryptorchidism, Hypospadias, Diabetes mellitus OMIM:614613
Bardet-Biedl Syndrome 17
Hypogonadism, Obesity, Micropenis OMIM:615994
Bardet-Biedl Syndrome 20
Micropenis, Male hypogonadism, Obesity, Bilateral cryptorchidism OMIM:619471
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Sheehan Syndrome
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:91355
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Small for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Goiter... OMIM:274300
Hypothyroidism, Congenital, Nongoitrous, 6
Congenital hypothyroidism, Increased body weight, Increased T3/T4 ratio, Increased body mass inde... OMIM:614450
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Failure to thrive, Bilateral cryptorchidism, Decr... OMIM:305400
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Micropenis, Increased body weight OMIM:300860
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Hypogonadism, Decreased testicula... ORPHA:3464
Macrocephaly/Autism Syndrome
Obesity, Penile freckling, Large for gestational age, Overgrowth, Hydrocele testis OMIM:605309
Silver-Russell Syndrome
Precocious puberty, Premature adrenarche, Abnormal male external genitalia morphology, Abnormal v... ORPHA:813
Retinitis Pigmentosa
Hypogonadism, Obesity, Hyperinsulinemia, Type II diabetes mellitus, Abnormal testis morphology ORPHA:791
Microcephalic Primordial Dwarfism, Dauber Type
Obesity, Bilateral breast hypoplasia, Primary amenorrhea ORPHA:319675
Pituitary Adenoma 4, Acth-Secreting
Pituitary adenoma, Increased circulating ACTH level, Obesity, Oligomenorrhea, Abdominal obesity OMIM:219090
Prader-Willi Syndrome
Precocious puberty, Small scrotum, Class III obesity, Failure to thrive in infancy, Decreased res... OMIM:176270
Wolfram Syndrome 1
Testicular atrophy, Hypothyroidism, Diabetes mellitus, Diabetes insipidus OMIM:222300
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Increased body weight, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyp... ORPHA:276608
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Irregular menstruation, Failure to thrive, Dysmenorrhea, Increased body weight, Polycystic ovarie... ORPHA:264580
X-Linked Intellectual Disability, Cabezas Type
Hypogonadism, Decreased testicular size, Obesity, Cachexia, Hypoplasia of penis ORPHA:85293
Ulnar-Mammary Syndrome
Abnormality of the uterus, Breast aplasia, Obesity, Decreased fertility, Cryptorchidism, Hypoplas... ORPHA:3138
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Irregular menstruation, Dysmenorrhea, Increased body weight, Polycystic ovaries, Oligomenorrhea ORPHA:79240
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Secondary amenorrhea, Hy... OMIM:157640
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Craniopharyngioma
Increased circulating prolactin concentration, Hypogonadism, Hypopituitarism, Obesity, Central ad... ORPHA:54595
Autosomal Dominant Polycystic Kidney Disease
Pituitary growth hormone cell adenoma, Pancreatic cysts, Reduced sperm motility ORPHA:730
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Decreased testicular size, Hypogonadism, Obesity, Abdominal obesity, Ne... OMIM:209900
Renal Cysts And Diabetes Syndrome
Maturity-onset diabetes of the young, Pancreatic hypoplasia, Pancreatic atrophy, Atretic vas defe... OMIM:137920
Monosomy 13Q34
Obesity, Metrorrhagia ORPHA:96168
Septo-Optic Dysplasia Spectrum
Obesity, Cryptorchidism, Maternal diabetes, Anterior pituitary hypoplasia, Hypoplasia of penis, D... ORPHA:3157
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Small scrotum, Hypogonadism, External genital hypoplasia, Obesity, Cryptorchidism, Diabetes melli... OMIM:614231
Coccidioidomycosis
Abnormality of the female genitalia, Abnormal sperm morphology, Abnormality of the endocrine syst... ORPHA:228123
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Obesity, Cryptorchidism, Adrenocorticotrop... OMIM:615926
Tetrasomy 9P
Polymicrogyria, Pachygyria, Absent gallbladder, Cryptorchidism, Oligozoospermia, Micropenis, Infe... ORPHA:3310
Cushing Disease
Increased circulating cortisol level, Pituitary corticotropic cell adenoma, Increased urinary cor... ORPHA:96253
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Sotos Syndrome
Increased body weight, Tall stature, Cryptorchidism, Overgrowth OMIM:117550
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Increased urinary cortisol level, Decreased circulating ACT... OMIM:615954
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Decreased c... ORPHA:226307
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Insulin-Resistance Syndrome Type B
Abnormal circulating leptin concentration, Insulin-resistant diabetes mellitus, Fasting hyperinsu... ORPHA:2298
Smith-Magenis Syndrome
Increased body weight, Abnormality of the thyroid gland OMIM:182290
Meningioma
Decreased serum estradiol, Secondary growth hormone deficiency, Hypothalamic hypothyroidism, Pitu... ORPHA:2495
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Blue Diaper Syndrome
Increased body weight, Decreased circulating T4 concentration, Elevated circulating thyroid-stimu... ORPHA:94086
Cushing Syndrome Due To Ectopic Acth Secretion
Increased circulating cortisol level, Increased urinary cortisol level, Adrenal hyperplasia, Incr... ORPHA:99889
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Increased body we... ORPHA:263455
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Primary hypercortisolism, Adrenal hyperplasia, Increased bo... OMIM:615830
X-Linked Intellectual Disability, Snyder Type
Abnormality of the Leydig cells, Cryptorchidism, Testicular atrophy, Hypospadias, Disproportionat... ORPHA:3063
Steinert Myotonic Dystrophy
Male hypogonadism, Cholelithiasis, Decreased response to growth hormone stimulation test, Decreas... ORPHA:273
Alström Syndrome
Testicular fibrosis, Decreased circulating T4 concentration, Hyperinsulinemia, Type II diabetes m... ORPHA:64
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Hellp Syndrome
Increased body weight ORPHA:244242

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

Phenotype Allele Zygosity Sex Life Stage
Testis - MPATH pathological process term dysplasia Fam170aem1(IMPC)Tcp HOM Early adult
Testis - MPATH pathological process term spermatogenesis defect Fam170aem1(IMPC)Tcp HOM Early adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Fam170a.

No publications found that use IMPC mice or data for Fam170a.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Fam170atm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Fam170aem1(IMPC)Tcp Exon Deletion Mice, Tissue
Fam170atm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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