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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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
Gynecomastia, Ambiguous genitalia, Male infertility, Decreased testicular size, Primary gonadal i... ORPHA:98797
Isochromosomy Yq
Gynecomastia, Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Prima... ORPHA:98798
Partial Chromosome Y Deletion
Oligospermia, Non-obstructive azoospermia, Male infertility, Decreased testicular size, Abnormal ... ORPHA:1646
Spermatogenic Failure 57
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility OMIM:619108
Spermatogenic Failure 73
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure 25
Azoospermia, Cryptozoospermia, Decreased testicular size OMIM:617960
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Decreased testicular size, Abnormal spermatogenesis, Azoospermia, In... ORPHA:399805
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Spermatogenic Failure 70
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility OMIM:619828
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, female, Female infertility, Ambiguous genitalia, m... ORPHA:261529
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Azoospermia, Male hypogonadism OMIM:241000
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Oligospermia, Decreased testicular size OMIM:619689
Spermatogenic Failure, X-Linked, 2
Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Decreased testicula... ORPHA:399808
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter, Secondary amenorrhea, Pulmonary fibrosis, Premature ovarian insufficiency OMIM:617175
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Decreased serum testosterone concentration, Sparse axillary hair, Delayed men... ORPHA:52901
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Spermatogenic Failure 65
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619712
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Gynecomastia, Primary amenor... OMIM:614837
Spermatogenic Failure, X-Linked, 3
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... OMIM:301059
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Spermatogenic Failure 56
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619515
Spermatogenic Failure 54
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... OMIM:619379
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Spermatogenic Failure 40
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... OMIM:618664
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Obstructive azoospermia, Male infertility OMIM:301060
Spermatogenic Failure 39
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... OMIM:618643
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility ORPHA:276183
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... OMIM:619585
Spermatogenic Failure 47
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella OMIM:619102
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... OMIM:611102
Ectodermal Dysplasia With Adrenal Cyst
Breast hypoplasia, Hypohidrosis, Hypoplastic nipples OMIM:129550
Hypogonadism, Male
Testicular atrophy, Micropenis, Hypospadias, Gynecomastia, Male hypogonadism OMIM:241100
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... OMIM:108420
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circul... OMIM:229070
Spermatogenic Failure 51
Microcephalic sperm head, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm mot... OMIM:619177
Spermatogenic Failure 1
Cryptozoospermia, Oligospermia, Male infertility OMIM:258150
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... OMIM:616950
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... ORPHA:529970
Spermatogenic Failure 41
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head OMIM:618670
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 4
Honeycomb lung, Pulmonary fibrosis, Premature graying of hair OMIM:616371
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Hypoplastic areola, Hypoplastic nipples, Sparse hair, Hypogonadism OMIM:273400
Premature Ovarian Failure 10
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypo... OMIM:612885
Androgen Insensitivity, Partial
Infertility, Micropenis, Bifid scrotum, Male pseudohermaphroditism, Gynecomastia, Absent vas defe... OMIM:312300
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Testicular microlithiasis, Micropenis, Ovarian cyst, ... OMIM:228300
Spermatogenic Failure 64
Reduced progressive sperm motility, Abnormal sperm head morphology, Oligospermia, Male infertility OMIM:619696
Spermatogenic Failure 18
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617576
Spermatogenic Failure 19
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617592
Spermatogenic Failure 35
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618153
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 3
Pulmonary fibrosis, Usual interstitial pneumonia OMIM:616373
Spermatogenic Failure 28
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... OMIM:618086
Idiopathic Pulmonary Fibrosis
Reticular pattern on pulmonary HRCT, Abnormal pulmonary interstitial morphology, Honeycomb lung, ... ORPHA:2032
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Young Syndrome
Azoospermia OMIM:279000
Spermatogenic Failure 72
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... OMIM:619867
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 2
Absent nipple, Male urethral meatus stenosis, Hypoplastic areola, Hypoplastic nipples, Cryptorchi... OMIM:616001
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Absent facial hair, Abnormality of the hypothalamus-pituitary axi... ORPHA:2183
Spermatogenic Failure 46
Coiled sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagell... OMIM:619095
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility ORPHA:48
Hypersensitivity Pneumonitis, Familial
Hypersensitivity pneumonitis OMIM:145300
Spermatogenic Failure 43
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... OMIM:618751
Spermatogenic Failure 49
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619144
Spermatogenic Failure 45
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619094
Morbid Obesity And Spermatogenic Failure
Azoospermia, Oligospermia, Infertility, Type II diabetes mellitus OMIM:615703
Partial Androgen Insensitivity Syndrome
Abnormal circulating estrogen level, Blind vagina, Primary amenorrhea, Ambiguous genitalia, Clito... ORPHA:90797
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Normosmic Congenital Hypogonadotropic Hypogonadism
Impotence, Primary amenorrhea, Secondary amenorrhea, Increased female libido, Hypoplasia of the u... ORPHA:432
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 1
Absent nipple, Aplasia/Hypoplasia of the nipples, Aplasia/Hypoplasia of the breasts, Hypoplastic ... OMIM:113700
Spermatogenic Failure 42
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... OMIM:618745
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Male infertility, Absent vas deferens OMIM:277180
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum testosterone concentration, Micropenis, Decreased circulating follicle stimulatin... OMIM:614897
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Gynecomastia, Erectile dysfunction, Decreased fert... ORPHA:481
Cystic Hamartoma Of Lung And Kidney
Pulmonary fibrosis, Recurrent respiratory infections ORPHA:2111
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... ORPHA:251510
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Absent nipple, Sparse scalp hair, Sparse hair, Absent eyebrow, Sparse eyelashes, Sparse body hair... OMIM:614941
Cerebellar Ataxia-Hypogonadism Syndrome
Supernumerary nipple, Hypogonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary ax... ORPHA:1173
Spermatogenic Failure 38
Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti... OMIM:618433
Hemochromatosis, Type 2A
Amenorrhea, Hypogonadotropic hypogonadism, Infertility, Azoospermia OMIM:602390
Spermatogenic Failure, X-Linked, 4
Decreased serum testosterone concentration, Abnormal prolactin level, Elevated circulating lutein... OMIM:301077
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Immotile sperm, Male infertility, Abnormal sperm morphology OMIM:608653
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Pulmonary fibrosis, Hypohidrosis, Alopecia OMIM:615704
Familial Male-Limited Precocious Puberty
Precocious puberty, Oligospermia, Long penis, Male infertility, Abnormal hair morphology, Macroor... ORPHA:3000
Interstitial Lung Disease 2
Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pulmonary f... OMIM:178500
Spermatogenic Failure 26
Acephalic spermatozoa, Infertility OMIM:617961
Pulmonary Hemosiderosis
Recurrent intrapulmonary hemorrhage, Pulmonary fibrosis OMIM:178550
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus, Low posterior hairline ORPHA:2578
Spermatogenic Failure 16
Acephalic spermatozoa, Infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Acephalic spermatozoa, Infertility, Reduced sperm motility OMIM:617644
46,Xx Gonadal Dysgenesis
Aplasia/Hypoplasia of the breasts, Streak ovary, Primary amenorrhea, Sparse pubic hair, Secondary... ORPHA:243
Nipples, Supernumerary
Supernumerary nipple OMIM:163700
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... ORPHA:983
Anemia, Hypochromic Microcytic, With Iron Overload 2
Azoospermia, Hypogonadism OMIM:615234
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrocephalic sperm head OMIM:243060
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hypergonadotropic hypogonadism, Azoospermia OMIM:613724
Maternal Uniparental Disomy Of Chromosome X
Inverted nipples, Ambiguous genitalia, Primary gonadal insufficiency, Azoospermia, Gonadal tissue... ORPHA:261519
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona... OMIM:308700
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Limb-Mammary Syndrome
Hypohidrosis, Hypoplastic nipples OMIM:603543
Spermatogenic Failure 24
Coiled sperm flagella, Reduced sperm motility, Microcephalic sperm head, Short sperm flagella, Ta... OMIM:617959
Pterygia, Mental Retardation, And Distinctive Craniofacial Features
Hypospadias, External genital hypoplasia, Hypoplastic nipples OMIM:177980
Familial Supernumerary Nipples
Supernumerary nipple ORPHA:2456
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Cryptorchidism, Breast carcinoma, Micropenis, Hypospadias, Decreased fe... ORPHA:1916
Martin-Probst Syndrome
Chordee, Wide intermamillary distance, Bifid scrotum, Micropenis, Hypoplastic nipples, Hypothyroi... OMIM:300519
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Labial hypoplasia, Sparse hair, Sparse eyelashes, Absent pubic hair, Hypoplastic nipples, Distich... OMIM:211370
Scarf Syndrome
Wide intermamillary distance, Sparse hair, Bifid scrotum, Micropenis, Hypoplastic nipples, Crypto... ORPHA:3134
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 5
Pulmonary fibrosis OMIM:618674
Ulnar-Mammary Syndrome
Hypoplasia of penis, Hypoplastic nipples, Breast aplasia, Abnormality of the uterus, Delayed pube... ORPHA:3138
Adrenal Hypoplasia, Congenital
Adrenal insufficiency, Decreased circulating aldosterone level, Precocious puberty, Decreased cir... OMIM:300200
46,Xx Sex Reversal 1
Sex reversal, Bicornuate uterus, Hypospadias, Elevated circulating luteinizing hormone level, Gyn... OMIM:400045
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Infertility, Male pseudohermaphroditism, Gynecomastia, Female external genitalia in individual wi... OMIM:264300
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, female, Decreased fertility in males, Decreased circulating cortisol level, ... ORPHA:90791
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal pulmonary interstitial morphology ORPHA:401835
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Gynecomastia, Testicular atrophy, Decreased fertility OMIM:313200
Nablus Mask-Like Facial Syndrome
Labial hypoplasia, Low anterior hairline, Sparse hair, Sparse eyebrow, Micropenis, Sparse eyelash... OMIM:608156
Leydig Cell Hypoplasia
Abnormal external genitalia, Hypergonadotropic hypogonadism, Primary amenorrhea, Hyoplasia of the... ORPHA:755
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens OMIM:300985
Hidrotic Ectodermal Dysplasia, Halal Type
Sparse scalp hair, Absent eyebrow, Supernumerary nipple, Sparse body hair, Irregular menstruation... ORPHA:1809
Riddle Syndrome
Pulmonary fibrosis OMIM:611943
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Absent bronchoalveolar surfactant-protein C, Nodular pattern on pulmonary H... OMIM:610921
Scarf Syndrome
Low anterior hairline, Wide intermamillary distance, Sparse hair, Bifid scrotum, Micropenis, Hypo... OMIM:312830
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the uterus, Decreased serum testosterone concentration, Micropenis, B... OMIM:278850
49,Xyyyy Syndrome
Abnormality of the testis size, Decreased serum testosterone concentration, External genital hypo... ORPHA:99330
47,Xyy Syndrome
Increased circulating gonadotropin level, Increased serum testosterone level, Micropenis, Hypospa... ORPHA:8
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Decreased response to growth hormone stimulation test, Hypergonadotropic hypogonadism, Decreased ... ORPHA:280679
Ichthyosis With Confetti
Hypertrichosis, Hypoplastic nipples OMIM:609165
Hemochromatosis, Type 1
Amenorrhea, Testicular atrophy, Impotence, Alopecia, Hypogonadotropic hypogonadism, Diabetes mell... OMIM:235200
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Absent nipple, Anhidrosis, Absent hair, Sparse hair OMIM:614940
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Cystic Fibrosis
Exocrine pancreatic insufficiency, Pulmonary fibrosis, Recurrent respiratory infections ORPHA:586
Chronic Beryllium Disease
Reticulonodular pattern on pulmonary HRCT, Lymphocytic interstitial pneumonia, Hypersensitivity p... ORPHA:133
Sarcoidosis, Susceptibility To, 2
Abnormal pulmonary interstitial morphology, Pleural effusion, Bronchiectasis, Pneumothorax, Eleva... OMIM:612387
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2
Premature graying of hair, Pulmonary fibrosis OMIM:614743
Limb-Mammary Syndrome
Absent nipple, Sparse eyebrow, Alopecia, Bilateral breast hypoplasia, Primary amenorrhea, Hypopla... ORPHA:69085
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Impotence, Sparse eyebrow, Streak ovary, Hypergonadotropic hypogonadism, Alopecia, Primary amenor... ORPHA:2232
Barber-Say Syndrome
Generalized hirsutism, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Hypoplastic... ORPHA:1231
Ring Chromosome 21 Syndrome
Amenorrhea, Azoospermia, Infertility, Diabetes insipidus ORPHA:1445
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Premature graying of hair, Pulmonary fibrosis, Reticular pattern on pulmonary HRCT, Usual interst... OMIM:614742
Hermansky-Pudlak Syndrome 4
Albinism, Pulmonary fibrosis, Menorrhagia OMIM:614073
48,Xyyy Syndrome
Azoospermia, Male hypogonadism, Primary gonadal insufficiency ORPHA:99329
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Cryptorchidism, Hypoplastic nipples OMIM:618505
Hereditary Mucoepithelial Dysplasia
Sparse hair, Alopecia, Fine hair, Pulmonary fibrosis, Recurrent respiratory infections ORPHA:1839
Ovarian Dysgenesis 2
Hirsutism, Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Primary amenor... OMIM:300510
Ciliary Dyskinesia, Primary, 40
Azoospermia, Infertility, Absent outer dynein arms OMIM:618300
Surfactant Metabolism Dysfunction, Pulmonary, 2
Absent bronchoalveolar surfactant-protein C, Desquamative interstitial pneumonitis, Cystic patter... OMIM:610913
Adult Syndrome
Absent nipple, Sparse scalp hair, Fair hair, Wide intermamillary distance, Sparse axillary hair, ... OMIM:103285
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Decreased response to growth hormone stimulation test, Hypergonadotropic hypogonadism, Decreased ... OMIM:300845
Acute Interstitial Pneumonia
Interlobular septal thickening, Subpleural honeycombing, Nodular pattern on pulmonary HRCT, Retic... ORPHA:79126
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus OMIM:601076
Androgen Insensitivity Syndrome
Ambiguous genitalia, male, Sparse axillary hair, Male pseudohermaphroditism, Absent pubic hair, A... ORPHA:754
48,Xxyy Syndrome
Infertility, Type II diabetes mellitus, Hypoplasia of penis, Hypergonadotropic hypogonadism, Gyne... ORPHA:10
Adult Syndrome
Absent nipple, Sparse scalp hair, Alopecia, Hypoplastic nipples, Breast hypoplasia, Fine hair ORPHA:978
Sialuria
Generalized hirsutism, Synophrys, Low posterior hairline, Hypoplastic nipples OMIM:269921
Trichoodontoonychial Dysplasia With Bone Deficiency
Sparse hair, Supernumerary nipple, Nail dystrophy OMIM:275450
Ectodermal Dysplasia, Trichoodontoonychial Type
Absent nipple, Sparse hair OMIM:129510
Pulmonary Nodular Lymphoid Hyperplasia
Nodular pattern on pulmonary HRCT ORPHA:60026
Interstitial Lung Disease 1
Interlobular septal thickening, Intralobular septal thickening, Elevated bronchoalveolar lavage f... OMIM:619611
Braddock Syndrome
Abnormal hair pattern, Wide intermamillary distance, Pulmonary fibrosis ORPHA:52047
Czeizel-Losonci Syndrome
Wide intermamillary distance, Pulmonary hypoplasia, Hypoplastic nipples ORPHA:2437
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... ORPHA:2138
Choroidal Atrophy-Alopecia Syndrome
Fine hair, Sparse hair, Sparse or absent eyelashes, Supernumerary nipple ORPHA:1433
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Decreased response to growth hormone stimulation test, Cystic pattern on pulmonary HRCT, Compensa... OMIM:610978
46,Xy Sex Reversal 1
Sex reversal, Male pseudohermaphroditism, Abnormality of male external genitalia, Primary amenorr... OMIM:400044
45,X/46,Xy Mixed Gonadal Dysgenesis
Ambiguous genitalia, female, Streak ovary, Ambiguous genitalia, Abnormal internal genitalia, Bila... ORPHA:1772
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Absent nipple, Sparse hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair, Absent eyebrow, B... OMIM:305100
Spermatogenic Failure 6
Globozoospermia, Male infertility, Decreased acrosin in sperm head OMIM:102530
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Leydig cell insensitivity to gonadotropin, Micropenis, Hypogonadotropic hypog... OMIM:308750
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Limited Cutaneous Systemic Sclerosis
Pulmonary fibrosis ORPHA:220402
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Pulmonary fibrosis, Decreased response to growth hormone stimulation test, Decreased testicular size ORPHA:457240
Premature Ovarian Failure 5
Hypoplasia of the ovary, Streak ovary, Reduced antral follicle count, Primary amenorrhea, Seconda... OMIM:611548
Becker Nevus Syndrome
Hypoplastic labia minora, Abnormality of the scrotum, Supernumerary nipple, Aplasia/Hypoplasia of... ORPHA:64755
Asbestos Intoxication
Interlobular septal thickening, Lung adenocarcinoma, Pleural thickening, Subpleural honeycombing,... ORPHA:2302
Barber-Say Syndrome
Absent nipple, Inverted nipples, Hypertrichosis, Low anterior hairline, Sparse eyebrow, Sparse ey... OMIM:209885
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Sparse scalp hair, Fair hair, Decreased response to growth hormone stimulation test, Sparse eyebr... OMIM:604292
Incontinentia Pigmenti
Sparse hair, Supernumerary nipple, Alopecia, Coarse hair, Atrophic, patchy alopecia, Hypoplastic ... OMIM:308300
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6
Premature graying of hair, Pulmonary fibrosis, Nail dystrophy OMIM:619767
Functioning Gonadotropic Adenoma
Impotence, Ovarian cyst, Central diabetes insipidus, Pituitary gonadotropic cell adenoma, Enlarge... ORPHA:91348
Global Developmental Delay With Speech And Behavioral Abnormalities
Cryptorchidism, Precocious puberty, Supernumerary nipple OMIM:619243
Fanconi Renotubular Syndrome 5
Lung adenocarcinoma, Pulmonary fibrosis, Emphysema OMIM:618913
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Pulmonary fibrosis ORPHA:254361
Skin Creases, Congenital Symmetric Circumferential, 1
Wide intermamillary distance, Hypoplastic nipples OMIM:156610
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Pulmonary fibrosis, Abnormal pleura morphology ORPHA:210136
Idiopathic Pulmonary Hemosiderosis
Diffuse alveolar hemorrhage, Pulmonary fibrosis, Reticular pattern on pulmonary HRCT, Nodular pat... ORPHA:99931
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Sparse scalp hair, Fair hair, Decreased response to growth hormone stimulation test, Sparse hair,... OMIM:129900
Gapo Syndrome
Sparse hair, Sparse eyebrow, Sparse eyelashes, Alopecia, Hypoplastic nipples, Breast hypoplasia OMIM:230740
48,Xxxy Syndrome
Infertility, Type II diabetes mellitus, Hypoplasia of penis, Gynecomastia, Decreased testicular s... ORPHA:96263
Immunodeficiency 60 And Autoimmunity
Bronchiectasis, Recurrent sinopulmonary infections, Pulmonary fibrosis OMIM:618394
Ulnar-Mammary Syndrome
Inverted nipples, Bicornuate uterus, Imperforate hymen, Micropenis, Axillary apocrine gland hypop... OMIM:181450
Trichohepatoneurodevelopmental Syndrome
Cholelithiasis, Hypertrichosis, Woolly hair, Coarse hair, Hypoplastic nipples, Synophrys, Curly hair OMIM:618268
Cornelia De Lange Syndrome 1
Hirsutism, Hypospadias, Highly arched eyebrow, Curly eyelashes, Hypoplastic nipples, Long eyelash... OMIM:122470
Aspergillosis
Hypersensitivity pneumonitis, Pleuritis, Pneumonia, Pleural effusion, Bronchiectasis, Pulmonary f... ORPHA:1163
Intellectual Developmental Disorder, Autosomal Dominant 47
Thin eyebrow, Cryptorchidism, Supernumerary nipple OMIM:617635
Mgat2-Cdg
Inverted nipples, Hirsutism, Recurrent upper and lower respiratory tract infections, Hypoplastic ... ORPHA:79329
Alg9-Cdg
Inverted nipples, Hypertrichosis, Hypoplasia of the ovary, Bicornuate uterus, Hypoplastic nipples... ORPHA:79328
49,Xxxxy Syndrome
Infertility, Type II diabetes mellitus, Hypoplasia of penis, Gynecomastia, Decreased testicular s... ORPHA:96264
Scedosporiosis
Pleural empyema, Pleuritis, Bronchitis, Pneumonia, Pulmonary fibrosis ORPHA:449280
Antisynthetase Syndrome
Xerostomia, Pulmonary fibrosis, Abnormal pulmonary interstitial morphology, Recurrent respiratory... ORPHA:81
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Pulmonary hemorrhage, Hemosiderin-laden macrophages in bronchoalveolar fluid, Abnormal pulmonary ... OMIM:616414
Schinzel-Giedion Midface Retraction Syndrome
Hypertrichosis, Bicornuate uterus, Micropenis, Hypospadias, Splenopancreatic fusion, Hypoplastic ... OMIM:269150
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Pulmonary fibrosis OMIM:611926
Multiple Pterygium Syndrome, Escobar Variant
Hypospadias, Absence of labia majora, Cryptorchidism, Hypoplastic nipples OMIM:265000
Short-Rib Thoracic Dysplasia 12
Ambiguous genitalia, Wide intermamillary distance, Hypoplastic nipples OMIM:269860
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome
Low-set nipples, Peripheral pulmonary artery stenosis, Sparse hair, Hypoplastic nipples, Fine hair OMIM:280000
19Q13.11 Microdeletion Syndrome
Wide intermamillary distance, Sparse hair, Supernumerary nipple, Bifid scrotum, Hypospadias, Spar... ORPHA:217346
46,Xy Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Chordee, Abnormality of the clitoris, Micropenis, Bifid scrotum, Abnorm... ORPHA:325345
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Adrenal insufficiency, Abnormality of the hypothalamus-pituitary axis, Hypothyroidism, Hypogonadi... ORPHA:300298
Niemann-Pick Disease, Type B
Recurrent respiratory infections, Abnormal pulmonary interstitial morphology OMIM:607616
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Chronic bronchitis, Recurrent lower respiratory tract infections, Recurrent sinusitis, Recurrent ... OMIM:618986
Familial Glucocorticoid Deficiency
Adrenal insufficiency, Decreased circulating aldosterone level, Precocious puberty, Leydig cell n... ORPHA:361
Woods Syndrome
Supernumerary nipple, Frontal hirsutism OMIM:615236
21Q22.11Q22.12 Microdeletion Syndrome
Nail dystrophy, Hypoplastic nipples ORPHA:261323
Diffuse Cutaneous Systemic Sclerosis
Xerostomia, Pulmonary fibrosis, Dyspareunia ORPHA:220393
Tyshchenko Syndrome
Thick hair, Cryptorchidism, Low anterior hairline, Supernumerary nipple OMIM:615102
Felty Syndrome
Pleuritis, Recurrent pharyngitis, Recurrent pneumonia, Pulmonary fibrosis, Recurrent respiratory ... ORPHA:47612
Polymyositis
Breast carcinoma, Pulmonary fibrosis, Abnormal pulmonary interstitial morphology ORPHA:732
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Synophrys, Supernumerary nipple OMIM:616083
Mixed Connective Tissue Disease
Alopecia, Xerostomia, Abnormal pulmonary interstitial morphology, Pleuritis, Pulmonary fibrosis ORPHA:809
H Syndrome
Amenorrhea, Abnormal eyebrow morphology, Hypertrichosis, Micropenis, Alopecia, Gynecomastia, Decr... ORPHA:168569
Dyskeratosis Congenita, Autosomal Dominant 1
Sparse hair, Alopecia, Interstitial pneumonitis, Nail dystrophy, Premature graying of hair, Pulmo... OMIM:127550
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypoplasia of the ovary, Reduced circulating prolactin concentration, Hypogonadotropic hypogonadi... ORPHA:2235
Cornelia De Lange Syndrome
Generalized hirsutism, Low anterior hairline, Thick eyebrow, Hypoplasia of penis, Hypospadias, Pr... ORPHA:199
Acces Syndrome
Sparse scalp hair, Supernumerary nipple, Recurrent respiratory infections OMIM:619959
8P11.2 Deletion Syndrome
Hypoplasia of penis, Hypogonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary axi... ORPHA:251066
Immunodeficiency 85 And Autoimmunity
Pulmonary fibrosis, Recurrent respiratory infections OMIM:619510
Brain-Lung-Thyroid Syndrome
Hypoparathyroidism, Thyroid dysgenesis, Compensated hypothyroidism, Congenital hypothyroidism, Ab... ORPHA:209905
Sting-Associated Vasculopathy, Infantile-Onset
Nail dystrophy, Pulmonary fibrosis, Sparse hair, Recurrent respiratory infections OMIM:615934
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Vaginal dryness, Supernumerary nipple, Patchy alopecia, Micropenis, Sparse body hair, Hypospadias... OMIM:106260
Pulmonary Alveolar Microlithiasis
Interlobular septal thickening, Subpleural interstitial thickening, Pleural thickening, Testicula... ORPHA:60025
Ring Chromosome 22 Syndrome
Azoospermia, Thick eyebrow ORPHA:1446
Diffuse Alveolar Hemorrhage
Irregular septal thickening on pulmonary HRCT, Pulmonary fibrosis ORPHA:90060
Dyskeratosis Congenita, Autosomal Dominant 3
Premature graying of hair, Alopecia, Fine hair, Cryptorchidism, Pulmonary fibrosis OMIM:613990
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Hypospadias, Supernumerary nipple, Alopecia ORPHA:3224
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent sinusitis, Recurrent upper respiratory tract infections, Abnormal pulmonary interstitia... OMIM:613101
Ablepharon-Macrostomia Syndrome
Sparse hair, Absent eyebrow, Micropenis, Hypoplastic nipples, Ambiguous genitalia, Absent eyelash... OMIM:200110
Fontaine Progeroid Syndrome
Absent nipple, Sparse scalp hair, Hypertrichosis, Low anterior hairline, Micropenis, Coarse hair,... OMIM:612289
Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Abnormal spermatogenesis, Delayed puberty ORPHA:90646
Myotonic Dystrophy 1
Cholelithiasis, Frontal balding, Testicular atrophy, Hypogonadism OMIM:160900
Pituitary Dermoid And Epidermoid Cysts
Amenorrhea, Enlarged pituitary gland, Galactorrhea, Panhypopituitarism, Oligomenorrhea, Oligosper... ORPHA:91351
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Pulmonary fibrosis, Recurrent pneumonia, Pleural effusion OMIM:618935
Kallmann Syndrome
Dyspareunia, Hypoplasia of penis, Micropenis, Hypogonadotropic hypogonadism, Gynecomastia, Primar... ORPHA:478
Dyskeratosis Congenita, Autosomal Recessive 1
Sparse scalp hair, Pulmonary fibrosis, Nail dystrophy, Sparse eyelashes OMIM:224230
Lymphoid Interstitial Pneumonia
Subpleural interstitial thickening, Multiple pulmonary cysts, Respiratory tract infection, Bronch... ORPHA:79128
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Chronic bronchitis, Honeycomb lung, Respiratory tract infection, Emphysema, Bronchiectasis, Hyper... ORPHA:79127
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Cryptorchidism, Congenital hypothyroidism, Supernumerary nipple, Micropenis ORPHA:2519
Filippi Syndrome
Cryptorchidism, Supernumerary nipple ORPHA:3255
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypothyroidism, Hypopituitarism, Abnormal pulmonary interstitial morphology OMIM:619013
Interstitial Pneumonitis, Desquamative, Familial
Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recurrent upper respirator... OMIM:263000
Hermansky-Pudlak Syndrome 1
Albinism, Hypopigmentation of hair, Pulmonary fibrosis OMIM:203300
Scleroderma
Hypohidrosis, Pulmonary fibrosis, Abnormal pulmonary interstitial morphology, Alopecia ORPHA:801
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Supernumerary nipple, Micropenis, Synophrys, Cryptorchidism, Low posterior hairline OMIM:618929
Dyskeratosis Congenita, Autosomal Dominant 2
White forelock, Premature graying of hair, Pulmonary fibrosis, Nail dystrophy OMIM:613989
Intellectual Developmental Disorder, Autosomal Recessive 65
Hypospadias, Cryptorchidism, Supernumerary nipple OMIM:618109
2P15P16.1 Microdeletion Syndrome
Wide intermamillary distance, Supernumerary nipple, Sparse eyebrow, Gynecomastia, Long eyelashes,... ORPHA:261349
Immunodeficiency 13
Bronchiolitis obliterans organizing pneumonia, Recurrent upper respiratory tract infections, Recu... OMIM:615518
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Erdheim-Chester Disease
Hypogonadotropic hypogonadism, Abnormal pulmonary interstitial morphology, Pleural effusion, Pulm... ORPHA:35687
Johanson-Blizzard Syndrome
Sparse scalp hair, Fair hair, Micropenis, Hypospadias, Frontal upsweep of hair, Septate vagina, H... OMIM:243800
Generalized Glucocorticoid Resistance Syndrome
Infertility, Decreased circulating aldosterone level, Precocious puberty, Hirsutism, Increased ci... ORPHA:786
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligospermia OMIM:314300
Focal Dermal Hypoplasia
Labial hypoplasia, Supernumerary nipple, Sparse hair, Brittle hair, Patchy alopecia, Clitoral hyp... OMIM:305600
Interstitial Lung And Liver Disease
Hypothyroidism, Intraalveolar phospholipid accumulation, Abnormal pulmonary interstitial morpholo... OMIM:615486
Blepharophimosis With Facial And Genital Anomalies And Mental Retardation
Low anterior hairline, Supernumerary nipple, Hypospadias, Glandular hypospadias, Long eyelashes, ... OMIM:604314
Carpenter Syndrome 2
Low anterior hairline, Wide intermamillary distance, Supernumerary nipple, Cryptorchidism, Microp... OMIM:614976
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Inverted nipples, Wide intermamillary distance, External genital hypoplasia, Frontal hirsutism, H... ORPHA:96334
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features
Chordee, Supernumerary nipple, Synophrys, Cryptorchidism, Highly arched eyebrow OMIM:616728
Acute Lung Injury
Abnormal pulmonary interstitial morphology, Diffuse alveolar hemorrhage, Pneumonia, Acute pancrea... ORPHA:178320
Developmental And Epileptic Encephalopathy 51
Supernumerary nipple OMIM:617339
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent aspiration pneumonia, Pulmonary hemorrhage, Pulmonary fibrosis, Recurrent respiratory i... ORPHA:79124
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Bronchiectasis, Respiratory tract infection, Bronchiolitis obliterans, Pneumonia ORPHA:1303
Systemic Sclerosis
Hypohidrosis, Pulmonary fibrosis, Abnormal pulmonary interstitial morphology, Alopecia ORPHA:90291
Immunodeficiency 91 And Hyperinflammation
Pulmonary hemorrhage, Abnormal pulmonary interstitial morphology, Recurrent lower respiratory tra... OMIM:619644
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Spontaneous neonatal pneumothorax, Interstitial pneumonitis, Intraalveolar phospholipid accumulat... ORPHA:217563
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypoplasia of penis, Supernumerary nipple, Aplasia/Hypoplasia of the eyebrow, Hypothyroidism, Fin... ORPHA:1812
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Sparse scalp hair, Chordee, Hypertrichosis, Supernumerary nipple, Sparse eyebrow, Hypospadias, Sy... ORPHA:477993
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Hypospadias, Cryptorchidism, Supernumerary nipple, Micropenis OMIM:141750
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Long eyelashes, Pulmonary fibrosis, Menometrorrhagia ORPHA:79430
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Anteriorly displaced genitalia, Hypospadias, Hypoplastic nipples, Aplasia of the uterus, Cryptorc... OMIM:276820
Hermansky-Pudlak Syndrome 2
Albinism, Pulmonary fibrosis, Recurrent pneumonia, Fair hair OMIM:608233
Riddle Syndrome
Abnormal pulmonary interstitial morphology, Recurrent sinusitis, Bronchitis, Recurrent pneumonia,... ORPHA:420741
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Nail dystrophy OMIM:613987
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Hyperinsulinemia, Decreased serum testosterone concentration, Decreased... ORPHA:3464
Tessadori-Van Haaften Neurodevelopmental Syndrome 4
Cryptorchidism, Highly arched eyebrow, Supernumerary nipple, Micropenis OMIM:619951
Symptomatic Form Of Hemochromatosis Type 1
Amenorrhea, Infertility, Testicular atrophy, Decreased serum testosterone concentration, Hypogona... ORPHA:465508
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Supernumerary nipple, Sparse eyebrow, Bifid uterus, Abnormal reproductive system morphology, Apla... ORPHA:1521
Chromosome 1Q41-Q42 Deletion Syndrome
Cryptorchidism, Supernumerary nipple, Sparse eyebrow OMIM:612530
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Pulmonary fibrosis OMIM:612852
Acrorenal-Mandibular Syndrome
Absent nipple, Bicornuate uterus, Uterus didelphys, Unicornuate uterus, Abnormality of the breast OMIM:200980
Chitayat Syndrome
Recurrent respiratory infections, Abnormal pulmonary interstitial morphology OMIM:617180
Developmental Delay With Or Without Dysmorphic Facies And Autism
Supernumerary nipple, Cryptorchidism, Highly arched eyebrow, Microphallus, Small scrotum OMIM:618454
Postaxial Acrofacial Dysostosis
Supernumerary nipple ORPHA:246
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Bronchiolitis obliterans OMIM:617241
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Desquamative interstitial pneumonitis, Recurrent upper respira... OMIM:615952
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Supernumerary nipple, Recurrent respiratory infections OMIM:616579
Sarcoidosis, Susceptibility To, 1
Abnormal pulmonary interstitial morphology, Abnormal salivary gland morphology, Enlarged lacrimal... OMIM:181000
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Micropenis, Hypergonadotropic hypogonadism... OMIM:602782
Bloom Syndrome
Hypertrichosis, Type II diabetes mellitus, Decreased fertility in females, Azoospermia, Cryptorch... OMIM:210900
Bainbridge-Ropers Syndrome
Hirsutism, Precocious puberty, Thick eyebrow, Supernumerary nipple, Sparse hair, Thin eyebrow, Lo... OMIM:615485
Trisomy 12P
Thick eyebrow, Supernumerary nipple ORPHA:1699
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Testicular atrophy, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary amenorrhea, Pre... OMIM:157640
Kleefstra Syndrome
Hypoplasia of penis, Supernumerary nipple, Micropenis, Hypospadias, Synophrys, Cryptorchidism, Hi... ORPHA:261494
Reactive Arthritis
Pulmonary fibrosis, Abnormal pleura morphology, Dystrophic fingernails ORPHA:29207
Bloom Syndrome
Patchy alopecia, Sparse eyelashes, Oligospermia, Neoplasm of the breast, Male infertility, Diabet... ORPHA:125
Primary Ciliary Dyskinesia
Anomalous pulmonary venous return, Female infertility, Pulmonary situs ambiguus, Male infertility... ORPHA:244
Char Syndrome
Supernumerary nipple ORPHA:46627
Postaxial Acrofacial Dysostosis
Cryptorchidism, Supernumerary nipple, Micropenis OMIM:263750
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Supernumerary nipple OMIM:614376
Pitt-Hopkins Syndrome
Supernumerary nipple, Micropenis, Frontal upsweep of hair, Sparse medial eyebrow, Cryptorchidism OMIM:610954
Typhoid
Abnormal pulmonary interstitial morphology ORPHA:99745
Autoimmune Lymphoproliferative Syndrome
Thyroiditis, Fibroadenoma of the breast, Pulmonary fibrosis, Premature ovarian insufficiency, Pan... ORPHA:3261
Dermatomyositis
Lung adenocarcinoma, Abnormal hair quantity, Breast carcinoma, Abnormal pulmonary interstitial mo... ORPHA:221
Branchioskeletogenital Syndrome
Absent nipple, Absent external genitalia, Micropenis, Penoscrotal hypospadias, Synophrys, Highly ... ORPHA:1299
Juvenile Dermatomyositis
Pulmonary fibrosis, Alopecia ORPHA:93672
Wild Type Attr Amyloidosis
Pleural effusion, Pulmonary edema, Abnormal pulmonary interstitial morphology ORPHA:330001
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Absent nipple OMIM:104350
Vertebral Hypersegmentation And Orofacial Anomalies
Supernumerary nipple, Widow's peak OMIM:619122
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Recurrent upper and lower respiratory tract infections, Hypertrichosis, Cyst of the ductus choled... ORPHA:480880
Dyskeratosis Congenita, X-Linked
Premature graying of hair, Sparse eyelashes, Alopecia, Decreased testicular size, Nail dystrophy,... OMIM:305000
2Q37 Microdeletion Syndrome
Sparse scalp hair, Wide intermamillary distance, Supernumerary nipple, Sparse eyebrow, Highly arc... ORPHA:1001
Niemann-Pick Disease, Type C2
Pulmonary fibrosis OMIM:607625
Al Amyloidosis
Autonomic erectile dysfunction, Xerostomia, Abnormal pulmonary interstitial morphology, Abnormal ... ORPHA:85443
Granulomatosis With Polyangiitis
Prostatitis, Pancreatitis, Recurrent intrapulmonary hemorrhage, Pleuritis, Pulmonary fibrosis, Re... ORPHA:900
Bohring-Opitz Syndrome
Hirsutism, Hypertrichosis, Low anterior hairline, Supernumerary nipple, Wide intermamillary dista... OMIM:605039
Surfactant Metabolism Dysfunction, Pulmonary, 1
Interlobular septal thickening, Desquamative interstitial pneumonitis, Intraalveolar phospholipid... OMIM:265120
Sarcoidosis
Chylothorax, Hyperthyroidism, Alopecia, Abnormal pleura morphology, Pneumothorax, Hypothyroidism,... ORPHA:797
3Mc Syndrome
Bilateral cryptorchidism, Highly arched eyebrow, Supernumerary nipple ORPHA:293843
Aarskog-Scott Syndrome
Testicular atrophy, Decreased serum testosterone concentration, Cryptorchidism, Elevated circulat... OMIM:305400
Autosomal Dominant Cerebellar Ataxia
Azoospermia ORPHA:99
Hermansky-Pudlak Syndrome 10
Albinism, Recurrent respiratory infections, Abnormal pulmonary interstitial morphology OMIM:617050
Bronchial Neuroendocrine Tumor
Abnormal pulmonary interstitial morphology, Elevated circulating growth hormone concentration, Pn... ORPHA:97287
Wolfram Syndrome 1
Hypothyroidism, Diabetes insipidus, Testicular atrophy, Diabetes mellitus OMIM:222300
Fanconi Anemia
Absent testis, Bicornuate uterus, Abnormal preputium morphology, Decreased fertility in males, Hy... ORPHA:84
Diphallia
Distal urethral duplication, Bifid scrotum, Hypospadias, Rectoperineal fistula, Bifid penis, Ecto... ORPHA:227
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hypertrichosis, Low anterior hairline, Thick eyebrow, Supernumerary nipple, Decreased response to... OMIM:213980
Autoimmune Polyendocrinopathy Type 3
Graves disease, Alopecia, Hypergonadotropic hypogonadism, Xerostomia, Autoimmune hypoparathyroidi... ORPHA:227982
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Sparse hair, Sparse eyebrow, Sparse eyelashes, Supernumerary nipple, Coarse hair, Hypohidrosis, D... ORPHA:1071
Immune-Mediated Necrotizing Myopathy
Abnormal pulmonary interstitial morphology ORPHA:206569
Yunis-Varon Syndrome
Absent nipple, Sparse scalp hair, Sparse eyebrow, Micropenis, Sparse eyelashes, Hypospadias, Hypo... OMIM:216340
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cholelithiasis, Azoospermia, Pulmonary fibrosis, Abnormal pulmonary interstitial morphology ORPHA:2072
Idiopathic Hypereosinophilic Syndrome
Pancreatitis, Pulmonary fibrosis, Pleural effusion ORPHA:3260
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Pulmonary fibrosis, Recurrent respiratory infections OMIM:618278
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Alopecia universalis, Patchy alopecia, Hypothyroidism, Pulmonary interstitial lymphocyte infiltra... OMIM:606367
Autoimmune Polyendocrinopathy Type 4
Alopecia, Hypergonadotropic hypogonadism, Xerostomia, Abnormal pulmonary interstitial morphology,... ORPHA:227990
Hyperphosphatasia-Intellectual Disability Syndrome
Highly arched eyebrow, Supernumerary nipple ORPHA:247262
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Hypospadias, Wide intermamillary distance, Supernumerary nipple ORPHA:397715
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Supernumerary nipple ORPHA:457279
Pitt-Hopkins Syndrome
Cryptorchidism, Supernumerary nipple, Micropenis ORPHA:2896
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Cryptorchidism, Highly arched eyebrow, Supernumerary nipple, Micropenis OMIM:618653
Gaucher Disease
Pulmonary fibrosis, Abnormal pulmonary interstitial morphology ORPHA:355
Bannayan-Riley-Ruvalcaba syndrome
Hashimoto thyroiditis, Supernumerary nipple, Long penis OMIM:153480
Incontinentia Pigmenti
Supernumerary nipple, Alopecia, Dystrophic toenail, Abnormal hair morphology, Hyperhidrosis ORPHA:464
Idiopathic Chronic Eosinophilic Pneumonia
Hypersensitivity pneumonitis, Pleural effusion ORPHA:2902
Oliver Syndrome
Thick eyebrow, Supernumerary nipple ORPHA:2920
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Gaucher Disease, Type I
Abnormal pulmonary interstitial morphology OMIM:230800
Chromosome 13Q14 Deletion Syndrome
Cryptorchidism, Supernumerary nipple, Micropenis OMIM:613884
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Cryptorchidism, Supernumerary nipple, High anterior hairline OMIM:619194
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Hypothyroidism, Cryptorchidism, Inverted nipples, Supernumerary nipple ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Hypothyroidism, Cryptorchidism, Inverted nipples, Supernumerary nipple ORPHA:352665
Renal Cysts And Diabetes Syndrome
Hypoplasia of the uterus, Bicornuate uterus, Atretic vas deferens, Reduced sperm motility, Maturi... OMIM:137920
Craniosynostosis-Mental Retardation Syndrome Of Lin And Gettig
Wide intermamillary distance, Ambiguous genitalia, male, Supernumerary nipple, Micropenis, Hyposp... OMIM:218649
Overlap Myositis
Abnormal pulmonary interstitial morphology ORPHA:206572
Oculocerebrorenal Syndrome Of Lowe
Sparse scalp hair, Abnormal calcium-phosphate regulating hormone level, Hyperaldosteronism, Fine ... ORPHA:534
Primary Fanconi Renotubular Syndrome
Pulmonary fibrosis ORPHA:3337
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Supernumerary nipple ORPHA:1236
Simpson-Golabi-Behmel Syndrome
Hypoplasia of penis, Supernumerary nipple, Hypospadias, Pancreatic islet-cell hyperplasia, Crypto... ORPHA:373
Gaucher Disease Type 1
Abnormal pulmonary interstitial morphology ORPHA:77259
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Sparse scalp hair, Sparse eyebrow, Sparse eyelashes, Gynecomastia, Abnormal pulmonary interstitia... OMIM:614748
Fusariosis
Hypersensitivity pneumonitis, Pleural effusion, Pneumonia, Bronchiectasis, Lung abscess, Pannicul... ORPHA:228119
Immunodeficiency 97 With Autoinflammation
Bronchiolitis obliterans organizing pneumonia, Recurrent sinopulmonary infections OMIM:619802
Adams-Oliver Syndrome 1
Imperforate hymen, Supernumerary nipple, Alopecia OMIM:100300
Q Fever
Abnormal pulmonary interstitial morphology, Pleural effusion, Pneumonia ORPHA:781
Hereditary Pulmonary Alveolar Proteinosis
Crazy paving pattern, Acute infectious pneumonia ORPHA:264675
3Mc Syndrome 1
Highly arched eyebrow, Supernumerary nipple OMIM:257920
Primary Sjögren Syndrome
Lymphocytic interstitial pneumonia, Xerostomia, Abnormal pulmonary interstitial morphology, Bronc... ORPHA:289390
Agammaglobulinemia, X-Linked
Prostatitis, Bronchiolitis obliterans, Recurrent lower respiratory tract infections, Recurrent si... OMIM:300755
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Supernumerary nipple, Cryptorchidism, Delayed puberty, Bilateral cryptorchidism, Anterior pituita... ORPHA:466791
Oculoectodermal Syndrome
Supernumerary nipple OMIM:600268
X-Linked Intellectual Disability, Snyder Type
Testicular atrophy, Wide intermamillary distance, Sparse eyebrow, Hypospadias, Abnormality of the... ORPHA:3063
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Papillary cystadenoma of the epididymis, Pheochromocytoma, Paragangliom... OMIM:193300
Gaucher Disease Type 3
Recurrent respiratory infections, Abnormal pulmonary interstitial morphology ORPHA:77261
Knobloch Syndrome 2
Recurrent respiratory infections, Abnormal pulmonary interstitial morphology OMIM:618458
Brucellosis
Orchitis, Bronchitis, Pulmonary granulomatosis, Pleural effusion, Pneumonia, Lung abscess, Hyperh... ORPHA:1304
Branchiooculofacial Syndrome
Premature graying of hair, Wide intermamillary distance, Sparse hair, Supernumerary nipple, Hypos... OMIM:113620
Mowat-Wilson Syndrome
Supernumerary nipple, Bifid scrotum, Hypospadias, Broad eyebrow, Cryptorchidism OMIM:235730
Steinert Myotonic Dystrophy
Cholelithiasis, Secondary hyperparathyroidism, Testicular atrophy, Impotence, Hyperinsulinemia, D... ORPHA:273
Kikuchi-Fujimoto Disease
Pleural effusion, Enlargement of parotid gland, Abnormal pulmonary interstitial morphology, Alopecia ORPHA:50918
Rajab Interstitial Lung Disease With Brain Calcifications 1
Bile duct proliferation, Abnormal pulmonary interstitial morphology, Emphysema OMIM:613658
Kawasaki Disease
Abnormality of nail color, Recurrent pharyngitis, Abnormal pulmonary interstitial morphology ORPHA:2331
Simpson-Golabi-Behmel Syndrome, Type 1
Hypertrichosis, Wide intermamillary distance, Supernumerary nipple, Short nail, Hypospadias, Panc... OMIM:312870
Aarskog Syndrome, Autosomal Dominant
Cryptorchidism, Abnormal pulmonary interstitial morphology, Widow's peak OMIM:100050
Chronic Graft Versus Host Disease
Bronchiolitis obliterans, Alopecia, Xerostomia, Pneumothorax, Pleural effusion, Nail dystrophy, B... ORPHA:99921
Pallister-Killian Syndrome
Sparse scalp hair, Labial hypoplasia, Supernumerary nipple, Sparse hair, Alopecia, Sparse eyebrow... OMIM:601803
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Intraalveolar phospholipid accumulation ORPHA:747
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Abnormal pulmonary interstitial morphology ORPHA:77293
Cryptococcosis
Pleural effusion, Prostatitis, Pneumonia, Nodular pattern on pulmonary HRCT ORPHA:1546
Farber Disease
Recurrent upper respiratory tract infections, Nodular pattern on pulmonary HRCT ORPHA:333
Ehlers-Danlos Syndrome, Vascular Type
Pulmonary bulla, Nodular pattern on pulmonary HRCT, Hemothorax, Recurrent intrapulmonary hemorrha... OMIM:130050
X-Linked Lymphoproliferative Disease
Pulmonary granulomatosis, Recurrent respiratory infections ORPHA:2442
Goodpasture Syndrome
Nodular pattern on pulmonary HRCT, Pulmonary hemorrhage, Hemosiderin-laden macrophages in broncho... 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

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

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