banner
Genes Phenotypes Help, News, Blog

Gene: Rxfp1 MGI:2682211

Log in to follow
Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
relaxin/insulin-like family peptide receptor 1
Synonyms:
Lgr7,  LOC381489

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Rxfp1 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 Rxfp1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Isochromosomy Yp
Decreased testicular size, Azoospermia, Gynecomastia, Ambiguous genitalia, Primary gonadal insuff... ORPHA:98797
Isochromosomy Yq
Varicocele, Male infertility, Decreased testicular size, Azoospermia, Gynecomastia, Ambiguous gen... ORPHA:98798
Partial Chromosome Y Deletion
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... OMIM:619528
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... OMIM:617960
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility OMIM:619145
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility OMIM:618110
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 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
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
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 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
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 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:619828
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Spermatogenic Failure 8
Cryptozoospermia, Azoospermia, Oligozoospermia OMIM:613957
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4
Pulmonary fibrosis, Honeycomb lung, Premature graying of hair OMIM:616371
Spermatogenic Failure 63
Decreased testicular size, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:619689
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis... ORPHA:399808
Spermatogenic Failure 65
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnorm... OMIM:619712
Spermatogenic Failure 84
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... OMIM:620409
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell... OMIM:301059
Spermatogenic Failure 56
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... OMIM:619515
Retinal Dystrophy With Or Without Extraocular Anomalies
Premature ovarian insufficiency, Pulmonary fibrosis, Secondary amenorrhea, Goiter OMIM:617175
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Spermatogenic Failure 40
Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Deleted in azoospermia
Azoospermia OMIM:400003
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Sparse pubic hair, Decreased serum testosterone con... ORPHA:52901
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell... OMIM:620084
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Spermatogenic Failure 47
Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Spermatogenic Failure 39
Reduced sperm motility, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Oligozoo... OMIM:618643
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Immotile... OMIM:619585
Spermatogenic Failure 77
Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor... OMIM:620103
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Spermatogenic Failure 51
Absent sperm axoneme central pair complex, Reduced sperm motility, Irregularly shaped sperm tail,... OMIM:619177
Spermatogenic Failure 1
Cryptozoospermia, Oligozoospermia, Male infertility OMIM:258150
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:614822
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Oligozoospermia, Coiled sperm flagella OMIM:620196
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Spermatogenic Failure 2
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm... OMIM:108420
Spermatogenic Failure 41
Tapered sperm head, Short sperm flagella, Immotile sperm, Oligozoospermia, Male infertility OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Deafness-Infertility Syndrome
Abnormal sperm head morphology, Reduced sperm motility, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Spermatogenic Failure 15
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin... OMIM:616950
Ectodermal Dysplasia With Adrenal Cyst
Breast hypoplasia, Hypoplastic nipples, Hypohidrosis OMIM:129550
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:612997
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 3
Usual interstitial pneumonia, Pulmonary fibrosis OMIM:616373
Hypogonadism, Male
Male hypogonadism, Gynecomastia, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Spermatogenic Failure 64
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... OMIM:619696
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper... OMIM:229070
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Sparse pubic hair, Abnormality of the Leydig cells, Decreased circulating dihy... OMIM:228300
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi... OMIM:612885
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Hypogonadism, Hypoplastic nipples, Sparse hair, Hypoplastic areola OMIM:273400
Androgen Insensitivity, Partial
Absent vas deferens, Bifid scrotum, Hypogonadism, Infertility, Azoospermia, Gynecomastia, Cryptor... OMIM:312300
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Absence of pubertal development, Gynecomastia, Cryptorchi... OMIM:614837
Spermatogenic Failure 20
Male infertility, Short sperm flagella, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Decre... OMIM:618086
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 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 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
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, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Spermatogenic Failure 14
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615842
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
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 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph... OMIM:301101
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Gynecomastia, Low posterior hairline, Sparse facial hair, Absent facial hair, Abnorm... ORPHA:2183
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 2
Highly arched eyebrow, Absent nipple, Male urethral meatus stenosis, Cryptorchidism, Hypoplastic ... OMIM:616001
Young Syndrome
Azoospermia OMIM:279000
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility ORPHA:48
Hypersensitivity Pneumonitis, Familial
Hypersensitivity pneumonitis OMIM:145300
Idiopathic Pulmonary Fibrosis
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Honeycomb lung, Abnormal pulmo... ORPHA:2032
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Normosmic Congenital Hypogonadotropic Hypogonadism
Sparse body hair, Non-obstructive azoospermia, Absence of pubertal development, Cryptorchidism, I... ORPHA:432
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Type II diabetes mellitus, Oligozoospermia OMIM:615703
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ... ORPHA:90797
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Interstitial Lung Disease 2
Usual interstitial pneumonia, Pulmonary fibrosis, Elevated bronchoalveolar lavage fluid neutrophi... OMIM:178500
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Decreased testicular size, Azoospermia, Decreased serum ... OMIM:614897
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
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 1
Aplasia/Hypoplasia of the nipples, Absent nipple, Hypoplastic areola, Aplasia/Hypoplasia of the b... OMIM:113700
Spermatogenic Failure 38
Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm... OMIM:618433
Cystic Hamartoma Of Lung And Kidney
Recurrent respiratory infections, Pulmonary fibrosis ORPHA:2111
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Spermatogenic Failure 13
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615841
Cerebellar Ataxia-Hypogonadism Syndrome
Supernumerary nipple, Hypogonadism, Gynecomastia, Decreased fertility, Hypogonadotropic hypogonad... ORPHA:1173
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Long penis, Abnormal hair morphology, Oligozoospermia, Macroorchidism, Male i... ORPHA:3000
Kennedy Disease
Decreased fertility, Type II diabetes mellitus, Gynecomastia, Testicular atrophy, Erectile dysfun... ORPHA:481
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Absent nipple, Xerostomia, Sparse lateral eyebrow, Sparse body hair, Sparse eyelashes, Absent eye... OMIM:614941
Pulmonary Hemosiderosis
Pulmonary fibrosis, Recurrent intrapulmonary hemorrhage OMIM:178550
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... ORPHA:251510
Spermatogenic Failure, X-Linked, 4
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos... OMIM:301077
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Azoospermia, Infertility, Amenorrhea OMIM:602390
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Low posterior hairline, Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus ORPHA:2578
46,Xx Gonadal Dysgenesis
Sparse pubic hair, Aplasia/Hypoplasia of the breasts, Streak ovary, Decreased fertility, Abnormal... ORPHA:243
Nipples, Supernumerary
Supernumerary nipple OMIM:163700
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Hypergonadotropic hypogonadism OMIM:613724
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 9
Pulmonary fibrosis OMIM:620400
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... ORPHA:983
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Alopecia, Sparse eyebrow, Sparse eyelashes, Hypohidrosis, Pulmonary fibrosis OMIM:615704
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Sparse pubic hair, Decreased serum testosterone concentration, Decreased testicula... OMIM:308700
Spermatogenic Failure 24
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile... OMIM:617959
Maternal Uniparental Disomy Of Chromosome X
Azoospermia, Inverted nipples, Low posterior hairline, Ambiguous genitalia, Primary gonadal insuf... ORPHA:261519
Spermatogenic Failure 44
Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreased testicular size... OMIM:619044
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Limb-Mammary Syndrome
Hypoplastic nipples, Hypohidrosis OMIM:603543
46,Xx Sex Reversal 2
Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased serum tes... OMIM:278850
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 5
Pulmonary fibrosis OMIM:618674
Familial Supernumerary Nipples
Supernumerary nipple ORPHA:2456
Adrenal Hypoplasia, Congenital
Precocious puberty, Absence of pubertal development, Azoospermia, Adrenal insufficiency, Primary ... OMIM:300200
Martin-Probst Syndrome
Wide intermamillary distance, Bifid scrotum, Cryptorchidism, Hypoplastic nipples, Chordee, Hypoth... OMIM:300519
Chronic Beryllium Disease
Pulmonary fibrosis, Hypersensitivity pneumonitis, Reticulonodular pattern on pulmonary HRCT, Lymp... ORPHA:133
Scarf Syndrome
Wide intermamillary distance, Bifid scrotum, Cryptorchidism, Low posterior hairline, Hypoplastic ... ORPHA:3134
Ulnar-Mammary Syndrome
Abnormality of the uterus, Breast aplasia, Decreased fertility, Cryptorchidism, Hypoplastic nippl... ORPHA:3138
46,Xx Sex Reversal 1
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Azoospermia, Gynecomastia, ... OMIM:400045
Interstitial Lung Disease 1
Usual interstitial pneumonia, Intralobular septal thickening, Interlobular septal thickening, Ele... OMIM:619611
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features
Hypoplastic female external genitalia, Hypospadias, Hypoplastic nipples OMIM:177980
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... OMIM:610921
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... ORPHA:90791
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal pulmonary interstitial morphology ORPHA:401835
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Gynecomastia, Male pseudohermaphroditism, Hypothyroidism, Infertility, Female external genitalia ... OMIM:264300
Leydig Cell Hypoplasia
Cryptorchidism, Male pseudohermaphroditism, Primary amenorrhea, Abnormal internal genitalia, Fema... ORPHA:755
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility, Gynecomastia OMIM:313200
Riddle Syndrome
Pulmonary fibrosis OMIM:611943
Hidrotic Ectodermal Dysplasia, Halal Type
Irregular menstruation, Supernumerary nipple, Sparse body hair, Absent eyelashes, Trichodysplasia... ORPHA:1809
Surfactant Metabolism Dysfunction, Pulmonary, 2
Recurrent pneumonia, Intralobular septal thickening, Spontaneous pneumothorax, Intraalveolar phos... OMIM:610913
Sarcoidosis, Susceptibility To, 2
Emphysema, Pleural effusion, Pneumothorax, Abnormal pulmonary interstitial morphology, Pulmonary ... OMIM:612387
Ciliary Dyskinesia, Primary, 51
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... OMIM:620438
Scarf Syndrome
Wide intermamillary distance, Bifid scrotum, Cryptorchidism, Low anterior hairline, Low posterior... OMIM:312830
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Pulmonary fibrosis, Premature ... OMIM:614742
47,Xyy Syndrome
Varicocele, Azoospermia, Cryptorchidism, Increased serum testosterone level, Oligozoospermia, Inc... ORPHA:8
49,Xyyyy Syndrome
Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De... ORPHA:99330
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Absent nipple, Absent hair, Anhidrosis, Hypohidrosis, Brittle hair, Sparse hair OMIM:614940
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Premature graying of hair, Decreased response to growth hormone stimulation test, Decreased testi... ORPHA:280679
Ichthyosis With Confetti
Hypoplastic nipples, Hypertrichosis OMIM:609165
Hemochromatosis, Type 1
Alopecia, Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea, Testicular atrophy, Impotence, ... OMIM:235200
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2
Pulmonary fibrosis, Premature graying of hair OMIM:614743
Hermansky-Pudlak Syndrome 4
Albinism, Pulmonary fibrosis, Menorrhagia OMIM:614073
Ciliary Dyskinesia, Primary, 40
Infertility, Azoospermia, Absent outer dynein arms OMIM:618300
Spermatogenic Failure, X-Linked, 7
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
Limb-Mammary Syndrome
Alopecia, Sparse eyebrow, Absent nipple, Breast aplasia, Aplasia of the ovary, Aplasia of the ute... ORPHA:69085
Barber-Say Syndrome
Breast aplasia, Sparse or absent eyelashes, Generalized hirsutism, Hypoplastic nipples, Shawl scr... ORPHA:1231
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Non-obstructive azoospermia, Streak ovary, Cryptorchidism, Aplasia of the ovary, Primary amenorrh... ORPHA:2232
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Nodular p... ORPHA:79126
48,Xyyy Syndrome
Male hypogonadism, Primary gonadal insufficiency, Azoospermia ORPHA:99329
Ring Chromosome 21 Syndrome
Amenorrhea, Azoospermia, Diabetes insipidus, Infertility ORPHA:1445
Ovarian Dysgenesis 2
Streak ovary, Hirsutism, Delayed puberty, Primary amenorrhea, Premature ovarian insufficiency, Hy... OMIM:300510
Pulmonary Nodular Lymphoid Hyperplasia
Nodular pattern on pulmonary HRCT ORPHA:60026
Spermatogenic Failure 85
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... OMIM:620490
Hereditary Mucoepithelial Dysplasia
Alopecia, Fine hair, Pulmonary fibrosis, Recurrent respiratory infections, Sparse hair ORPHA:1839
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Lung ade... ORPHA:2302
Adult Syndrome
Absent nipple, Wide intermamillary distance, Fair hair, Breast hypoplasia, Alopecia of scalp, Spa... OMIM:103285
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atelectasis, Cystic pattern on pulmonary HRCT, Decreased response to growth hormone stimulation t... OMIM:610978
Stolerman Neurodevelopmental Syndrome
Hypoplastic nipples, Cryptorchidism OMIM:618505
48,Xxyy Syndrome
Decreased testicular size, Azoospermia, Gynecomastia, Cryptorchidism, Type II diabetes mellitus, ... ORPHA:10
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus OMIM:601076
Bone Marrow Failure Syndrome 5
Testicular atrophy, Pulmonary fibrosis, Nail dystrophy, Hypogonadism OMIM:618165
Adult Syndrome
Alopecia, Absent nipple, Fine hair, Breast hypoplasia, Hypoplastic nipples, Sparse scalp hair ORPHA:978
Nablus Mask-Like Facial Syndrome
Highly arched eyebrow, Sparse eyebrow, Wide intermamillary distance, Frontal upsweep of hair, Cry... OMIM:608156
Sialuria
Hirsutism, Low posterior hairline, Generalized hirsutism, Hypoplastic nipples, Synophrys OMIM:269921
46,Xy Sex Reversal 1
Abnormal male external genitalia morphology, Elevated circulating luteinizing hormone level, Gona... OMIM:400044
Czeizel-Losonci Syndrome
Hypoplastic nipples, Wide intermamillary distance, Pulmonary hypoplasia ORPHA:2437
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Braddock Syndrome
Abnormal hair pattern, Pulmonary fibrosis, Wide intermamillary distance ORPHA:52047
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Premature graying of hair, Emphysema, Nail dystrophy, Cryptorchidism, Pulmonary fibrosis OMIM:620365
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Low posterior hairline, Chordee, Abnor... ORPHA:1772
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Atelectasis, Pulmonary fibrosis ORPHA:254361
Kallmann Syndrome With Spastic Paraplegia
Sparse pubic hair, Hypothalamic gonadotropin-releasing hormone deficiency, Gynecomastia, Cryptorc... OMIM:308750
Van Maldergem Syndrome 2
High anterior hairline, Bifid scrotum, Cryptorchidism, Hypoplastic nipples, Micropenis, Hypospadias OMIM:615546
Functioning Gonadotropic Adenoma
Galactorrhea, Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation tes... ORPHA:91348
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Sparse eyebrow, Absent nipple, Fine hair, Sparse body hair, Anhidrosis, Sparse eyelashes, Absent ... OMIM:305100
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Azoospermia OMIM:615234
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pulmonary fibrosis, Nail dystrophy, Premature graying of hair OMIM:619767
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Hemosiderin-laden macrophages in bronchoalveolar fluid, Pulmonary hemorrhage, Abnormal pulmonary ... OMIM:616414
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Decreased response to growth hormone stimulation test, Decreased testicular size, Pulmonary fibrosis ORPHA:457240
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Bronchiolitis Obliterans
Pneumonia, Bronchiolitis obliterans, Bronchiectasis, Respiratory tract infection ORPHA:1303
Limited Cutaneous Systemic Sclerosis
Pulmonary fibrosis ORPHA:220402
Premature Ovarian Failure 5
Reduced antral follicle count, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Prematu... OMIM:611548
Becker Nevus Syndrome
Aplasia/Hypoplasia of the breasts, Hypoplastic labia minora, Abnormal scrotum morphology, Supernu... ORPHA:64755
Idiopathic Pulmonary Hemosiderosis
Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Nodular pattern on pulmonary HR... ORPHA:99931
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Elevated circulating luteinizing hormone level, Premature graying of hair, Decreased response to ... OMIM:300845
Barber-Say Syndrome
Sparse eyebrow, Absent nipple, Hypertrichosis, Inverted nipples, Cryptorchidism, Sparse eyelashes... OMIM:209885
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Abnormal pleura morphology, Pulmonary fibrosis ORPHA:210136
Incontinentia Pigmenti
Alopecia, Coarse hair, Fine hair, Supernumerary nipple, Breast aplasia, Breast hypoplasia, Atroph... OMIM:308300
Fanconi Renotubular Syndrome 5
Emphysema, Pulmonary fibrosis, Lung adenocarcinoma OMIM:618913
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Sparse pubic hair, Sparse eyebrow, Fair hair, Decreased response to growth hormone stimulation te... OMIM:604292
Global Developmental Delay With Speech And Behavioral Abnormalities
Precocious puberty, Cryptorchidism, Supernumerary nipple OMIM:619243
Aspergillosis
Pneumonia, Pleural effusion, Hypersensitivity pneumonitis, Pulmonary fibrosis, Pleuritis, Bronchi... ORPHA:1163
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Sparse hair, Sparse pubic hair, Sparse eyebrow, Fair hair, Decreased response to growth hormone s... OMIM:129900
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Respiratory tract infection, Chronic bronchitis, Honeycomb lung, Hypersensitivity pneu... ORPHA:79127
Immunodeficiency 60 And Autoimmunity
Pulmonary fibrosis, Recurrent sinopulmonary infections, Bronchiectasis OMIM:618394
48,Xxxy Syndrome
Small scrotum, Hypogonadism, Decreased testicular size, Azoospermia, Gynecomastia, Cryptorchidism... ORPHA:96263
Tetraamelia Syndrome 2
Bilateral lung agenesis, Absent nipple, Hypoplastic pulmonary veins OMIM:618021
Cornelia De Lange Syndrome 1
Highly arched eyebrow, Hypoplastic male external genitalia, Long eyelashes, Curly eyelashes, Cryp... OMIM:122470
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Pulmonary fibrosis OMIM:611926
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Usual interstitial pneumonia, Pulmonary fibrosis, Premature graying of hair OMIM:620367
Skin Creases, Congenital Symmetric Circumferential, 1
Hypoplastic nipples, Wide intermamillary distance OMIM:156610
Scedosporiosis
Pneumonia, Bronchitis, Pulmonary fibrosis, Pleuritis, Pleural empyema ORPHA:449280
Trichohepatoneurodevelopmental Syndrome
Cholelithiasis, Thoracic hypertrichosis, Coarse hair, Exocrine pancreatic insufficiency, Long eye... OMIM:618268
Niemann-Pick Disease, Type B
Abnormal pulmonary interstitial morphology, Recurrent respiratory infections OMIM:607616
Intellectual Developmental Disorder, Autosomal Dominant 47
Thin eyebrow, Cryptorchidism, Supernumerary nipple OMIM:617635
49,Xxxxy Syndrome
Small scrotum, Hypogonadism, Decreased testicular size, Azoospermia, Gynecomastia, Cryptorchidism... ORPHA:96264
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hypoplastic nipples, Clitoral hypertrophy, Hypospadias, Cryptorchidism OMIM:614866
Mgat2-Cdg
Long eyelashes, Inverted nipples, Hirsutism, Hypoplastic nipples, Recurrent upper and lower respi... ORPHA:79329
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Imperforate hymen, Small scrotum, Axillary apocrine gland hypoplasia... OMIM:181450
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent pneumonia, Recurrent sinusitis, Chronic bronchitis, Recurrent lower respiratory tract i... OMIM:618986
Choroidal Atrophy-Alopecia Syndrome
Fine hair, Supernumerary nipple, Thin eyebrow, Sparse or absent eyelashes, Sparse hair ORPHA:1433
Alg9-Cdg
Hypertrichosis, Inverted nipples, Low posterior hairline, Hypoplastic nipples, Hypoplasia of the ... ORPHA:79328
Familial Glucocorticoid Deficiency
Precocious puberty, Leydig cell neoplasia, Abnormal circulating adrenocorticotropin concentration... ORPHA:361
Short-Rib Thoracic Dysplasia 12
Hypoplastic nipples, Ambiguous genitalia, Wide intermamillary distance OMIM:269860
Antisynthetase Syndrome
Abnormal pulmonary interstitial morphology, Recurrent respiratory infections, Pulmonary fibrosis,... ORPHA:81
Schinzel-Giedion Midface Retraction Syndrome
Small scrotum, Hypospadias, Hypertrichosis, Splenopancreatic fusion, Hypoplastic labia majora, Hy... OMIM:269150
Multiple Pterygium Syndrome, Escobar Variant
Hypoplastic nipples, Hypospadias, Cryptorchidism, Absence of labia majora OMIM:265000
46,Xy Ovotesticular Difference Of Sex Development
Abnormality of the male genitalia, Bifid scrotum, Perineal hypospadias, Abnormal labia morphology... ORPHA:325345
Diffuse Cutaneous Systemic Sclerosis
Dyspareunia, Pulmonary fibrosis, Xerostomia ORPHA:220393
19Q13.11 Microdeletion Syndrome
Wide intermamillary distance, Sparse lateral eyebrow, Bifid scrotum, Supernumerary nipple, Fine h... ORPHA:217346
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypogonadism, Adrenal insufficiency, Azoospermia, Hypothyroidism, Abnormality of the hypothalamus... ORPHA:300298
21Q22.11Q22.12 Microdeletion Syndrome
Hypoplastic nipples, Nail dystrophy ORPHA:261323
Gapo Syndrome
Alopecia, Sparse eyebrow, Breast hypoplasia, Sparse eyelashes, Hypoplastic nipples, Sparse hair OMIM:230740
Woods Syndrome
Frontal hirsutism, Supernumerary nipple OMIM:615236
Tyshchenko Syndrome
Low anterior hairline, Cryptorchidism, Thick hair, Supernumerary nipple OMIM:615102
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Synophrys, Supernumerary nipple OMIM:616083
Felty Syndrome
Recurrent pneumonia, Recurrent pharyngitis, Recurrent respiratory infections, Pulmonary fibrosis,... ORPHA:47612
Polymyositis
Abnormal pulmonary interstitial morphology, Pulmonary fibrosis, Breast carcinoma ORPHA:732
Mixed Connective Tissue Disease
Alopecia, Xerostomia, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis, Pleuritis ORPHA:809
Diffuse Alveolar Hemorrhage
Pulmonary fibrosis, Irregular septal thickening on pulmonary HRCT ORPHA:90060
Cornelia De Lange Syndrome
Highly arched eyebrow, Abnormality of the uterus, Long eyelashes, Curly eyelashes, Thick eyebrow,... ORPHA:199
Acces Syndrome
Recurrent respiratory infections, Sparse scalp hair, Supernumerary nipple OMIM:619959
H Syndrome
Alopecia, Hypertrichosis, Hypogonadism, Decreased testicular size, Azoospermia, Abnormal eyebrow ... ORPHA:168569
Interstitial Pneumonitis, Desquamative, Familial
Recurrent upper respiratory tract infections, Desquamative interstitial pneumonitis, Type II pneu... OMIM:263000
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Breast hypoplasia,... ORPHA:2235
Pulmonary Alveolar Microlithiasis
Bronchitis, Interlobular septal thickening, Subpleural interstitial thickening, Decreased fertili... ORPHA:60025
Immunodeficiency 85 And Autoimmunity
Recurrent respiratory infections, Pulmonary fibrosis OMIM:619510
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Sparse hair, Highly arched eyebrow, Sparse lateral eyebrow, Fine hair, Low-set nipples, Hypoplast... OMIM:280000
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Abnormal pulmonary interstitial morphology, Recurrent upper respiratory tract infections, Recurre... OMIM:613101
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Sparse eyebrow, Absent nipple, Congenital hypothyroidism, Nail dystrophy, Aplasia of the thymus, ... OMIM:620186
Immunodeficiency 13
Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent sinusitis, Bronchiol... OMIM:615518
Sting-Associated Vasculopathy, Infantile-Onset
Sparse hair, Recurrent respiratory infections, Pulmonary fibrosis, Nail dystrophy OMIM:615934
8P11.2 Deletion Syndrome
Hypogonadism, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of penis, Ab... ORPHA:251066
Ring Chromosome 22 Syndrome
Azoospermia, Thick eyebrow ORPHA:1446
Pituitary Dermoid And Epidermoid Cysts
Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Galactorrhea, Hy... ORPHA:91351
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypopituitarism, Abnormal pulmonary interstitial morphology, Hypothyroidism OMIM:619013
Lymphoid Interstitial Pneumonia
Subpleural interstitial thickening, Respiratory tract infection, Multiple pulmonary cysts, Pulmon... ORPHA:79128
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Alopecia, Hypospadias, Supernumerary nipple ORPHA:3224
Brain-Lung-Thyroid Syndrome
Recurrent pneumonia, Congenital hypothyroidism, Compensated hypothyroidism, Hypoparathyroidism, A... ORPHA:209905
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Pulmonary venous occlusion, Interlobular septal thickening OMIM:265450
Fontaine Progeroid Syndrome
Small scrotum, Absent nipple, Coarse hair, Hypertrichosis, Cryptorchidism, Low anterior hairline,... OMIM:612289
Intellectual Developmental Disorder, Autosomal Recessive 65
Hypospadias, Cryptorchidism, Supernumerary nipple OMIM:618109
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Recurrent pneumonia, Pulmonary fibrosis, Pleural effusion OMIM:618935
Dyskeratosis Congenita, Autosomal Dominant 3
Alopecia, Fine hair, Premature graying of hair, Cryptorchidism, Nail dystrophy, Abnormal pulmonar... OMIM:613990
Ablepharon-Macrostomia Syndrome
Absent eyelashes, Hypoplastic labia majora, Ambiguous genitalia, Absent eyebrow, Hypoplastic nipp... OMIM:200110
Carpenter Syndrome 2
Highly arched eyebrow, Sparse eyebrow, Wide intermamillary distance, Supernumerary nipple, Bilate... OMIM:614976
Deafness-Hypogonadism Syndrome
Delayed puberty, Hypergonadotropic hypogonadism, Abnormal spermatogenesis ORPHA:90646
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Frontal balding, Hypogonadism OMIM:160900
Dyskeratosis Congenita, Autosomal Recessive 1
Pulmonary fibrosis, Nail dystrophy, Sparse scalp hair, Sparse eyelashes OMIM:224230
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Interstitial pneumonitis, Abnormal pulmonary interstitial morphology, Intraalveolar phospholipid ... ORPHA:217563
Dyskeratosis Congenita, Autosomal Dominant 2
Pulmonary fibrosis, White forelock, Nail dystrophy, Premature graying of hair OMIM:613989
Dyskeratosis Congenita, Autosomal Dominant 1
Alopecia, Premature graying of hair, Interstitial pneumonitis, Nail dystrophy, Pulmonary fibrosis... OMIM:127550
Filippi Syndrome
Cryptorchidism, Supernumerary nipple ORPHA:3255
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Micropenis, Congenital hypothyroidism, Cryptorchidism, Supernumerary nipple ORPHA:2519
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Supernumerary nipple, Cryptorchidism, Low posterior hairline, Micropenis, Synophrys OMIM:618929
Hermansky-Pudlak Syndrome 1
Albinism, Hypopigmentation of hair, Pulmonary fibrosis OMIM:203300
Erdheim-Chester Disease
Pleural effusion, Hypogonadotropic hypogonadism, Hyperhidrosis, Abnormal pulmonary interstitial m... ORPHA:35687
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Frontal balding, Increased c... ORPHA:786
2P15P16.1 Microdeletion Syndrome
Sparse eyebrow, Wide intermamillary distance, Fine hair, Supernumerary nipple, Hypogonadism, Decr... ORPHA:261349
Acute Lung Injury
Pneumonia, Abnormal pulmonary interstitial morphology, Diffuse alveolar hemorrhage, Acute pancrea... ORPHA:178320
Interstitial Lung And Liver Disease
Abnormal pulmonary interstitial morphology, Hypothyroidism, Pulmonary fibrosis, Intraalveolar pho... OMIM:615486
Immunodeficiency 91 And Hyperinflammation
Recurrent pneumonia, Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Pleural ef... OMIM:619644
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Bronchiolitis obliterans, Hypoplasia of the thymus OMIM:617241
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development
Dystrophic toenail, Supernumerary nipple, Glandular hypospadias, Long eyelashes, Low anterior hai... OMIM:604314
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Micropenis, Highly arched eyebrow, Cryptorchidism, Supernumerary nipple OMIM:619951
Primary Ciliary Dyskinesia
Abnormal sperm motility, Female infertility, Atelectasis, Male infertility, Pulmonary situs ambig... ORPHA:244
Rapp-Hodgkin Syndrome
Sparse hair, Sparse eyebrow, Decreased number of sweat glands, Fine hair, Supernumerary nipple, P... OMIM:129400
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features
Highly arched eyebrow, Supernumerary nipple, Cryptorchidism, Chordee, Synophrys OMIM:616728
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Wide intermamillary distance, External genital hypoplasia, Inverted nipples, Cryptorchidism, Hypo... ORPHA:96334
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Fine hair, Supernumerary nipple, Cryptorchidism, Hypothyroidism, Aplasia/Hypoplasia of the eyebro... ORPHA:1812
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent aspiration pneumonia, Pulmonary hemorrhage, Pulmonary fibrosis, Recurrent respiratory i... ORPHA:79124
Focal Dermal Hypoplasia
Supernumerary nipple, Nail dystrophy, Cryptorchidism, Hypoplastic nipples, Patchy alopecia, Labia... OMIM:305600
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Recurrent upper respiratory tract infections, Exocrine pancreatic insufficiency, Interstitial pne... OMIM:615952
Chitayat Syndrome
Abnormal pulmonary interstitial morphology, Recurrent respiratory infections OMIM:617180
Riddle Syndrome
Pneumonia, Recurrent pneumonia, Bronchitis, Recurrent sinusitis, Abnormal pulmonary interstitial ... ORPHA:420741
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Nail dystrophy OMIM:613987
Systemic Sclerosis
Abnormal pulmonary interstitial morphology, Alopecia, Pulmonary fibrosis, Hypohidrosis ORPHA:90291
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Sparse eyebrow, High anterior hairline, Supernumerary nipple, Hypertrichosis, Cryptorchidism, Cho... ORPHA:477993
Hermansky-Pudlak Syndrome
Menometrorrhagia, Long eyelashes, Pulmonary fibrosis, Hypopigmentation of hair ORPHA:79430
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Fine hair, Premature graying of hair, Nail dystrophy, Pulmonary fibrosis, Sparse hair OMIM:612199
Bloom Syndrome
Hypertrichosis, Azoospermia, Type II diabetes mellitus, Cryptorchidism, Decreased fertility in fe... OMIM:210900
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Supernumerary nipple, Sparse body hair, Nail dystrophy, Sparse eyelashes, Absent eyelashes, Patch... OMIM:106260
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Cryptorchidism, Aplasia of the uterus, Anteriorly displaced genitalia, Hypoplastic... OMIM:276820
Hermansky-Pudlak Syndrome 2
Albinism, Recurrent pneumonia, Pulmonary fibrosis, Fair hair OMIM:608233
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased serum testosterone concentration, Decreased libido, Gynecomastia, Hypogonadotropic hypo... ORPHA:465508
Sarcoidosis, Susceptibility To, 1
Enlarged lacrimal glands, Abnormal salivary gland morphology, Emphysema, Pleural effusion, Abnorm... OMIM:181000
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Pulmonary fibrosis OMIM:612852
Acrorenal-Mandibular Syndrome
Absent nipple, Uterus didelphys, Abnormality of the breast, Unicornuate uterus, Bicornuate uterus OMIM:200980
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Aplasia/Hypoplasia of the nipples, Sparse eyebrow, Supernumerary nipple, Abnormal reproductive sy... ORPHA:1521
Chromosome 1Q41-Q42 Deletion Syndrome
Sparse eyebrow, Cryptorchidism, Supernumerary nipple OMIM:612530
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Recurrent respiratory infections, Supernumerary nipple OMIM:616579
Hermansky-Pudlak Syndrome 6
Albinism, Recurrent upper respiratory tract infections, Pulmonary fibrosis, Endometriosis OMIM:614075
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Alopecia, Insulin-resistant diabetes mellitus, Hypogonadism, Decreased... ORPHA:3464
Postaxial Acrofacial Dysostosis
Supernumerary nipple ORPHA:246
Johanson-Blizzard Syndrome
Clitoral hypertrophy, Fair hair, Septate vagina, Frontal upsweep of hair, Cryptorchidism, Primary... OMIM:243800
Histiocytosis-Lymphadenopathy Plus Syndrome
Type I diabetes mellitus, Pancreatic hypoplasia, Decreased response to growth hormone stimulation... OMIM:602782
Kleefstra Syndrome
Highly arched eyebrow, Supernumerary nipple, Cryptorchidism, Micropenis, Hypoplasia of penis, Hyp... ORPHA:261494
Bloom Syndrome
Azoospermia, Sparse eyelashes, Patchy alopecia, Oligozoospermia, Premature ovarian insufficiency,... ORPHA:125
Trisomy 12P
Thick eyebrow, Supernumerary nipple ORPHA:1699
Typhoid
Abnormal pulmonary interstitial morphology ORPHA:99745
Surfactant Metabolism Dysfunction, Pulmonary, 1
Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Int... OMIM:265120
Bainbridge-Ropers Syndrome
Precocious puberty, Highly arched eyebrow, Supernumerary nipple, Thin eyebrow, Long eyelashes, Th... OMIM:615485
Developmental And Epileptic Encephalopathy 51
Supernumerary nipple OMIM:617339
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Sparse eyebrow, High anterior hairline, Supernumerary nipple, Thick eyebrow, Inverted nipples, Sy... OMIM:620098
Congenital Myopathy 21 With Early Respiratory Failure
Lipoid pneumonia OMIM:620326
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Supernumerary nipple OMIM:614376
Char Syndrome
Supernumerary nipple ORPHA:46627
Postaxial Acrofacial Dysostosis
Micropenis, Cryptorchidism, Supernumerary nipple OMIM:263750
Reactive Arthritis
Dystrophic fingernails, Abnormal pleura morphology, Pulmonary fibrosis ORPHA:29207
Al Amyloidosis
Xerostomia, Abnormal pulmonary interstitial morphology, Abnormal salivary gland morphology, Auton... ORPHA:85443
Pitt-Hopkins Syndrome
Sparse medial eyebrow, Supernumerary nipple, Frontal upsweep of hair, Cryptorchidism, Micropenis OMIM:610954
Vertebral Hypersegmentation And Orofacial Anomalies
Widow's peak, Supernumerary nipple OMIM:619122
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Absent nipple OMIM:104350
Branchioskeletogenital Syndrome
Highly arched eyebrow, Absent external genitalia, Absent nipple, Penoscrotal hypospadias, Micrope... ORPHA:1299
Wild Type Attr Amyloidosis
Pulmonary edema, Abnormal pulmonary interstitial morphology, Pleural effusion ORPHA:330001
Bronchial Neuroendocrine Tumor
Pneumonia, Abnormal pulmonary interstitial morphology, Increased circulating cortisol level, Elev... ORPHA:97287
2Q37 Microdeletion Syndrome
Highly arched eyebrow, Sparse eyebrow, Wide intermamillary distance, Supernumerary nipple, Sparse... ORPHA:1001
Juvenile Dermatomyositis
Alopecia, Pulmonary fibrosis ORPHA:93672
Idiopathic Chronic Eosinophilic Pneumonia
Hypersensitivity pneumonitis, Pleural effusion, Atelectasis ORPHA:2902
Autoimmune Lymphoproliferative Syndrome
Fibroadenoma of the breast, Panniculitis, Premature ovarian insufficiency, Pulmonary fibrosis, Th... ORPHA:3261
Niemann-Pick Disease, Type C2
Pulmonary fibrosis OMIM:607625
Granulomatosis With Polyangiitis
Recurrent intrapulmonary hemorrhage, Prostatitis, Pancreatitis, Recurrent respiratory infections,... ORPHA:900
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Hypertrichosis, Hypoplastic nipples, Curly hair, Cyst of the ductus choledochus, Abnormal circula... ORPHA:480880
Dyskeratosis Congenita, X-Linked
Alopecia, Premature graying of hair, Decreased testicular size, Cryptorchidism, Nail dystrophy, S... OMIM:305000
Sarcoidosis
Alopecia, Enlarged lacrimal glands, Chylothorax, Parotitis, Emphysema, Abnormal pleura morphology... ORPHA:797
Hermansky-Pudlak Syndrome 10
Albinism, Abnormal pulmonary interstitial morphology, Recurrent respiratory infections OMIM:617050
Bohring-Opitz Syndrome
Wide intermamillary distance, Supernumerary nipple, Hypertrichosis, Low anterior hairline, Hypere... OMIM:605039
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Secondary amenorrhea, Hy... OMIM:157640
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Atelectasis, Pleural effusion, Recurrent lower respir... OMIM:620233
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Decreased serum testost... OMIM:305400
3Mc Syndrome
Supernumerary nipple, Highly arched eyebrow, Bilateral cryptorchidism ORPHA:293843
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Alopecia universalis, Patchy alopecia, Hypothyroidism, Pulmonary interstitial lymphocyte infiltra... OMIM:606367
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Highly arched eyebrow, Wide intermamillary distance, Supernumerary nipple, Decreased response to ... OMIM:213980
Immune-Mediated Necrotizing Myopathy
Abnormal pulmonary interstitial morphology ORPHA:206569
Fanconi Anemia
Abnormality of the hypothalamus-pituitary axis, Abnormality of the uterus, Hypogonadism, Azoosper... ORPHA:84
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Sparse eyebrow, Coarse hair, Dystrophic toenail, Supernumerary nipple, Sparse eyelashes, Dystroph... ORPHA:1071
Autoimmune Polyendocrinopathy Type 3
Alopecia, Xerostomia, Graves disease, Anterior pituitary dysgenesis, Autoimmune hypoparathyroidis... ORPHA:227982
Wolfram Syndrome 1
Testicular atrophy, Hypothyroidism, Diabetes mellitus, Diabetes insipidus OMIM:222300
Developmental Delay With Or Without Dysmorphic Facies And Autism
Small scrotum, Highly arched eyebrow, Microphallus, Supernumerary nipple, Cryptorchidism OMIM:618454
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Recurrent respiratory infections, Pulmonary fibrosis, Atelectasis OMIM:618278
Dermatomyositis
Alopecia, Lung adenocarcinoma, Abnormal hair quantity, Abnormal pulmonary interstitial morphology... ORPHA:221
Yunis-Varon Syndrome
Sparse eyebrow, Absent nipple, Cryptorchidism, Sparse eyelashes, Hypoplastic nipples, Micropenis,... OMIM:216340
Mesomelic Dysplasia, Savarirayan Type
Supernumerary nipple OMIM:605274
Idiopathic Hypereosinophilic Syndrome
Pancreatitis, Pulmonary fibrosis, Pleural effusion ORPHA:3260
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Abnormal pulmonary interstitial morphology, Cholelithiasis, Pulmonary fibrosis, Azoospermia ORPHA:2072
Autoimmune Polyendocrinopathy Type 4
Alopecia, Xerostomia, Anterior pituitary dysgenesis, Abnormal pulmonary interstitial morphology, ... ORPHA:227990
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Wide intermamillary distance, Hypospadias, Supernumerary nipple ORPHA:397715
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Micropenis, Highly arched eyebrow, Cryptorchidism, Supernumerary nipple OMIM:618653
Hyperphosphatasia-Intellectual Disability Syndrome
Highly arched eyebrow, Supernumerary nipple ORPHA:247262
Au-Kline Syndrome
Wide intermamillary distance, Sparse lateral eyebrow, Supernumerary nipple, Inverted nipples, Cry... OMIM:616580
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Supernumerary nipple ORPHA:457279
Pitt-Hopkins Syndrome
Micropenis, Cryptorchidism, Supernumerary nipple ORPHA:2896
Hereditary Pulmonary Alveolar Proteinosis
Crazy paving pattern, Acute infectious pneumonia ORPHA:264675
Gaucher Disease, Type I
Abnormal pulmonary interstitial morphology OMIM:230800
Diphallia
Penoscrotal transposition, Bifid scrotum, Ectopic scrotum, Cryptorchidism, Bifid penis, Rectoperi... ORPHA:227
Incontinentia Pigmenti
Alopecia, Dystrophic toenail, Supernumerary nipple, Abnormal hair morphology, Hyperhidrosis ORPHA:464
Gaucher Disease
Abnormal pulmonary interstitial morphology, Cholelithiasis, Pulmonary fibrosis ORPHA:355
Carney Complex
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level... ORPHA:1359
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
High anterior hairline, Cryptorchidism, Supernumerary nipple OMIM:619194
Surfactant Metabolism Dysfunction, Pulmonary, 5
Intraalveolar phospholipid accumulation, Interlobular septal thickening OMIM:614370
Oliver Syndrome
Thick eyebrow, Supernumerary nipple ORPHA:2920
Immunodeficiency 97 With Autoinflammation
Bronchiolitis obliterans organizing pneumonia, Recurrent sinopulmonary infections OMIM:619802
Fusariosis
Pneumonia, Pleural effusion, Lung abscess, Panniculitis, Hypersensitivity pneumonitis, Bronchiect... ORPHA:228119
Gaucher Disease Type 1
Abnormal pulmonary interstitial morphology, Cholelithiasis ORPHA:77259
Chromosome 13Q14 Deletion Syndrome
Micropenis, Cryptorchidism, Supernumerary nipple OMIM:613884
Overlap Myositis
Abnormal pulmonary interstitial morphology ORPHA:206572
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Interlobular septal thickening, Pleural effusion, Hemothorax, Pulmon... ORPHA:199241
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Inverted nipples, Hypothyroidism, Cryptorchidism, Supernumerary nipple ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Inverted nipples, Hypothyroidism, Cryptorchidism, Supernumerary nipple ORPHA:352665
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Fin... ORPHA:534
Renal Cysts And Diabetes Syndrome
Pancreatic hypoplasia, Maturity-onset diabetes of the young, Pancreatic atrophy, Atretic vas defe... OMIM:137920
Agammaglobulinemia, X-Linked
Recurrent pneumonia, Recurrent sinusitis, Bronchiolitis obliterans, Prostatitis, Recurrent lower ... OMIM:300755
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Sparse eyebrow, Fine hair, Gynecomastia, Nail dystrophy, Sparse eyelashes, Abnormal pulmonary int... OMIM:614748
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Supernumerary nipple ORPHA:1236
Q Fever
Pneumonia, Abnormal pulmonary interstitial morphology, Pleural effusion ORPHA:781
Primary Sjögren Syndrome
Usual interstitial pneumonia, Xerostomia, Bronchitis, Parotitis, Lymphocytic interstitial pneumon... ORPHA:289390
Primary Fanconi Renotubular Syndrome
Pulmonary fibrosis ORPHA:3337
Simpson-Golabi-Behmel Syndrome
Supernumerary nipple, Cryptorchidism, Pancreatic islet-cell hyperplasia, Hypoplasia of penis, Hyp... ORPHA:373
Adams-Oliver Syndrome 1
Imperforate hymen, Alopecia, Supernumerary nipple OMIM:100300
3Mc Syndrome 1
Highly arched eyebrow, Synophrys, Supernumerary nipple OMIM:257920
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Supernumerary nipple, Bilateral cryptorchidism, Cryptorchidism, Delayed puberty, Anterior pituita... ORPHA:466791
Oculoectodermal Syndrome
Pineal cyst, Supernumerary nipple OMIM:600268
Knobloch Syndrome 2
Abnormal pulmonary interstitial morphology, Recurrent respiratory infections OMIM:618458
Brucellosis
Pneumonia, Pulmonary granulomatosis, Bronchitis, Pleural effusion, Orchitis, Lung abscess, Hyperh... ORPHA:1304
X-Linked Intellectual Disability, Snyder Type
Sparse eyebrow, Wide intermamillary distance, Abnormality of the Leydig cells, Cryptorchidism, Te... ORPHA:3063
Rajab Interstitial Lung Disease With Brain Calcifications 1
Emphysema, Abnormal pulmonary interstitial morphology, Bile duct proliferation OMIM:613658
Gaucher Disease Type 3
Abnormal pulmonary interstitial morphology, Recurrent respiratory infections ORPHA:77261
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Intraalveolar phospholipid accumulation ORPHA:747
Kikuchi-Fujimoto Disease
Abnormal pulmonary interstitial morphology, Alopecia, Pleural effusion, Enlargement of parotid gland ORPHA:50918
Kawasaki Disease
Abnormal pulmonary interstitial morphology, Abnormality of nail color, Recurrent pharyngitis ORPHA:2331
Mowat-Wilson Syndrome
Bifid scrotum, Supernumerary nipple, Cryptorchidism, Broad eyebrow, Hypospadias OMIM:235730
Branchiooculofacial Syndrome
Wide intermamillary distance, Supernumerary nipple, Premature graying of hair, Ectopic thymus tis... OMIM:113620
Steinert Myotonic Dystrophy
Male hypogonadism, Cholelithiasis, Alopecia, Impotence, Decreased response to growth hormone stim... ORPHA:273
Farber Disease
Recurrent upper respiratory tract infections, Nodular pattern on pulmonary HRCT, Atelectasis ORPHA:333
Chronic Graft Versus Host Disease
Alopecia, Xerostomia, Pleural effusion, Nail dystrophy, Pneumothorax, Bronchiolitis obliterans, B... ORPHA:99921
Simpson-Golabi-Behmel Syndrome, Type 1
Short nail, Wide intermamillary distance, Supernumerary nipple, Hypertrichosis, Cryptorchidism, P... OMIM:312870
Cryptococcosis
Pneumonia, Prostatitis, Nodular pattern on pulmonary HRCT, Pleural effusion ORPHA:1546
Chronic Visceral Acid Sphingomyelinase Deficiency
Abnormal pulmonary interstitial morphology, Cholelithiasis, Interstitial pneumonitis ORPHA:77293
Pallister-Killian Syndrome
Small scrotum, Sparse eyebrow, Alopecia, Supernumerary nipple, Sparse anterior scalp hair, Crypto... OMIM:601803
Ehlers-Danlos Syndrome, Vascular Type
Diffuse alveolar hemorrhage, Spontaneous pneumothorax, Emphysema, Nodular pattern on pulmonary HR... OMIM:130050
Goodpasture Syndrome
Reticular pattern on pulmonary HRCT, Pulmonary hemorrhage, Nodular pattern on pulmonary HRCT, Blo... OMIM:233450

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.

There is no histopathology data for Rxfp1

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 Rxfp1.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Therapeutic effects of a small molecule agonist of the relaxin receptor ML290 in liver fibrosis. FASEB journal : official publication of the Federation of American Societies for Experimental Biology (August 2019) Rxfp1tm1a(EUCOMM)Hmgu PMC6988856
Conditional deletion of the relaxin receptor gene in cells of smooth muscle lineage affects lower reproductive tract in pregnant mice. Biology of reproduction (February 2015) Rxfp1tm1c(EUCOMM)Hmgu Rxfp1tm1a(EUCOMM)Hmgu PMC4643956

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
Rxfp1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter