Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
breast cancer 2, early onset
Synonyms:
RAB163,  Fancd1

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 Brca2 mutations

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

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

The table below shows human diseases associated to Brca2 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Brca2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Adrenogenital syndrome OMIM:201710
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Colorectal Cancer, Susceptibility To, 12
Carcinoma OMIM:615083
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Oocyte/Zygote/Embryo Maturation Arrest 10
Miscarriage, Female infertility OMIM:619176
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level OMIM:103900
Isochromosomy Yp
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... ORPHA:98797
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Primary amenorrhe... OMIM:614840
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Tumor Predisposition Syndrome 4
Glioma, Meningioma, Breast carcinoma, Sarcoma OMIM:609265
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... OMIM:606719
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Isochromosomy Yq
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... ORPHA:98798
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Immunodeficiency 110 With Lymphoproliferation
Lymphoproliferative disorder, Recurrent viral infections, Recurrent upper respiratory tract infec... OMIM:614868
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty OMIM:300604
Ring Chromosome Y Syndrome
Bifid scrotum, Ambiguous genitalia, female, Ambiguous genitalia, male, Abnormality of the male ge... ORPHA:261529
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Hyperprolactinemia
Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea, Female infertility OMIM:615555
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Epidermolysis Bullosa Simplex 2D, Generalized, Intermediate Or Severe, Autosomal Recessive
Recurrent upper respiratory tract infections, Sepsis OMIM:619599
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Alopecia, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circul... ORPHA:3453
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Desmoid Tumor
Fibroma, Neoplasm of the skin, Sepsis, Desmoid tumors ORPHA:873
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... ORPHA:399808
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:201910
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability OMIM:600546
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... ORPHA:404
Nut Midline Carcinoma
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... ORPHA:443167
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Bullous Impetigo
Recurrent bacterial skin infections, Sepsis ORPHA:36237
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:202110
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Asherman Syndrome
Metrorrhagia, Dysmenorrhea, Miscarriage, Abnormality of the menstrual cycle, Decreased fertility ... ORPHA:137686
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ... ORPHA:403
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Breast Cancer
Breast carcinoma OMIM:114480
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Immunodeficiency 66
Sepsis OMIM:618847
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Pancreatic Cancer, Susceptibility To, 5
Melanoma, Pancreatic adenocarcinoma OMIM:618680
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating ACTH concentration, Increased circulating cortisol lev... OMIM:219080
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Intrauterine growth retardation OMIM:301021
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Immunodeficiency 46
Recurrent sinopulmonary infections, Sepsis, Chronic oral candidiasis OMIM:616740
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure, X-Linked, 6
Male infertility, Abnormality of male external genitalia, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Spermatogenic Failure 17
Male infertility OMIM:617214
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Xeroderma Pigmentosum, Complementation Group G
Small for gestational age, Defective DNA repair after ultraviolet radiation damage OMIM:278780
Pigmented Nodular Adrenocortical Disease, Primary, 4
Alopecia, Diabetes mellitus, Adrenal hyperplasia, Increased circulating cortisol level, Primary h... OMIM:615830
Epidermodysplasia Verruciformis, Susceptibility To, 3
Basal cell carcinoma, Verrucae, Squamous cell carcinoma OMIM:618267
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea OMIM:614858
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Lymphoproliferative Syndrome 2
Lymphoproliferative disorder, Lymphoma, Recurrent pneumonia, Sepsis, Hodgkin lymphoma, Recurrent ... OMIM:615122
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Reticular Dysgenesis
Sepsis OMIM:267500
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Specific Granule Deficiency 2
Myelodysplasia, Recurrent pneumonia, Sepsis, Recurrent bacterial infections, Recurrent otitis media OMIM:617475
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
N Syndrome
Abnormality of chromosome stability OMIM:310465
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Chronic furunculosis, Recurrent cutaneous abscess formation, Squamous cell carcinoma OMIM:613736
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level OMIM:613677
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... ORPHA:52901
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Galactose Mutarotase Deficiency
Sepsis ORPHA:570422
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Hirschsprung Disease
Neoplasm of the thyroid gland, Sepsis ORPHA:388
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Short stature, Abnormal rib morphology, Pectus carinatum, Radioulnar synostosi... ORPHA:3268
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial skin infections, Lymphoproliferative disorder, Severe recurrent varicella, Re... ORPHA:276
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent viral infections, Recurrent mycobacterial infections, Sepsis, Recurrent bacterial infec... ORPHA:169090
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Macronodular adrenal ... OMIM:615954
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Familial Hyperaldosteronism Type Iii
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Dexamethasone-suppres... ORPHA:251274
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism, Absence of secondar... ORPHA:432
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... OMIM:151623
Satoyoshi Syndrome
Short stature, Tapered finger, Abnormality of the humerus, Nephrogenic diabetes insipidus, Genu v... ORPHA:3130
Cheilitis Glandularis
Neoplasm, Squamous cell carcinoma ORPHA:1221
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Hypoplasia of penis, Small scrotum, Short stature, Abnormality of the thyroid ... ORPHA:2234
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Neonatal Alloimmune Neutropenia
Sepsis ORPHA:464370
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Bilateral cryptorchidism, Absent pubic hair, Male hypogonad... ORPHA:90793
Fanconi Anemia, Complementation Group G
Abnormality of chromosome stability OMIM:614082
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Increased susceptibility to spontaneous sister chromatid exchange OMIM:618097
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi... OMIM:612310
Pancreatic Cancer, Susceptibility To, 1
Pancreatic adenocarcinoma OMIM:606856
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Postaxial polydactyly, Lateral clavicle hook, Cryptorchidism, Obesity, Bell-shaped thorax, Short ... OMIM:615633
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Immunodeficiency 102
Recurrent upper respiratory tract infections, Sepsis, Recurrent sinusitis, Recurrent lower respir... OMIM:301082
C1Q Deficiency 2
Recurrent otitis media, Recurrent lower respiratory tract infections, Sepsis OMIM:620321
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Reticular Dysgenesis
Recurrent respiratory infections, Sepsis ORPHA:33355
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Cowden Syndrome 7
Breast carcinoma, Trichilemmoma, Papillary thyroid carcinoma, Papilloma, Hemangioma, Ductal carci... OMIM:616858
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent respiratory infections, Recurrent bacterial skin infections, Recurrent viral infections... ORPHA:217390
Pancreatic Cancer, Susceptibility To, 2
Neoplasm of the pancreas OMIM:613347
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Sepsis, Verrucae, Recurrent infections ORPHA:33110
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology, Short stature ORPHA:2435
Fanconi Anemia, Complementation Group J
Chromosomal breakage induced by crosslinking agents OMIM:609054
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Disseminated Superficial Actinic Porokeratosis
Squamous cell carcinoma ORPHA:79152
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... OMIM:614841
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Acquired Purpura Fulminans
Neoplasm, Sepsis ORPHA:49566
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Primary Unilateral Adrenal Hyperplasia
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decreased circulating... ORPHA:231580
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Felty Syndrome
Recurrent respiratory infections, Recurrent urinary tract infections, Recurrent pharyngitis, Lymp... ORPHA:47612
Tumor Predisposition Syndrome 2
Acute myeloid leukemia, Schwannoma, Uveal melanoma, Juvenile type ovarian granulosa cell tumor, D... OMIM:619975
Mosaic Trisomy 14
Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Cryptorchidism, Abnormal rib morpholog... ORPHA:1703
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sepsis ORPHA:229717
Ovarian Dysgenesis 2
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Secondary amenorrh... OMIM:300510
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Severe short stature, Coxa valga, Metaphyseal sclerosis, Enlargement of the costoc... OMIM:609052
Alg1-Cdg
Sepsis, Recurrent infections ORPHA:79327
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Neoplasm, Sepsis, Recurrent pneumonia ORPHA:47
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Short stature, Abnormal rib morphology, Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the... ORPHA:2578
Familial Adenomatous Polyposis 1
Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medulloblastoma, Desmoid tumor... OMIM:175100
Premature Ovarian Failure 20
Secondary amenorrhea, Elevated circulating luteinizing hormone level, Elevated circulating follic... OMIM:619938
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ... ORPHA:369929
Sporadic Creutzfeldt-Jakob Disease
Sepsis, Recurrent infections ORPHA:204
46,Xx Gonadal Dysgenesis
Streak ovary, Premature ovarian insufficiency, Short stature, Arachnodactyly, Increased circulati... ORPHA:243
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Transcobalamin Deficiency
Abnormality of chromosome stability ORPHA:859
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Sepsis OMIM:619059
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... OMIM:620356
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Asplenia, Isolated Congenital
Asplenia, Thrombocytosis, Howell-Jolly bodies OMIM:271400
Pyomyositis
Recurrent cutaneous abscess formation, Recurrent infections, Sepsis, Testicular teratoma ORPHA:764
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Increased circu... ORPHA:90790
Ovarian Dysgenesis 10
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:619834
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Increased circulating androstenedione concentration, Crypto... ORPHA:90791
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Alopecia, Paradoxical increased cortisol secretion on dexametha... ORPHA:189427
Selective Igm Deficiency
Chronic oral candidiasis, Recurrent urinary tract infections, Recurrent respiratory infections, R... ORPHA:331235
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
Premature Ovarian Failure 5
Streak ovary, Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea, Hypoplas... OMIM:611548
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen, Failure to thrive OMIM:602361
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Diastrophic Dysplasia
Abnormal clavicle morphology, Bowing of the long bones, Camptodactyly of finger, Proximal placeme... ORPHA:628
Mirage Syndrome
Cryptorchidism, Thrombocytopenia, Patent ductus arteriosus, Leukopenia, Decreased body weight, Hy... OMIM:617053
Stormorken Syndrome
Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Stuve-Wiedemann Syndrome 2
Neonatal death, Intrauterine growth retardation, Stillbirth, Death in adolescence OMIM:619751
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Congenital adrenal hyperplasia, Increased serum testosterone level ORPHA:96181
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplasia of penis, Cryptorchidism, Abnormal rib morphology, Disproportionate short-limb short s... ORPHA:2772
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Frontal balding, Precocious puberty, Incre... ORPHA:786
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Obesity, Gonadoblastoma, Abnormality of the uterus, Ne... OMIM:194072
Xeroderma Pigmentosum, Complementation Group F
Short stature, Seborrheic keratosis, Defective DNA repair after ultraviolet radiation damage, Squ... OMIM:278760
Autosomal Dominant Spondylocostal Dysostosis
Severe short stature, Missing ribs, Short thorax, Abnormal rib morphology, Posterior rib fusion, ... ORPHA:1797
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Sepsis ORPHA:289916
Multiple Endocrine Neoplasia, Type Iv
Pancreatic endocrine tumor, Pituitary adenoma, Carcinoma, Parathyroid adenoma, Renal angiomyolipo... OMIM:610755
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Long coccyx, Halberd-shaped pelvis, Narrow chest, Flaring... OMIM:156530
Posttransplant Acute Limbic Encephalitis
Sepsis ORPHA:163921
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Recurrent upper respiratory tract infections, Lymphoma, Sepsis, Recurrent candida infections, Rec... ORPHA:436159
Bardet-Biedl Syndrome
Finger syndactyly, Hypoplasia of penis, Short stature, Cryptorchidism, Postaxial hand polydactyly... ORPHA:110
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Short stature, Hypogonadotropic hypogonad... ORPHA:2235
Warty Dyskeratoma
Abnormal labia majora morphology, Vulvar neoplasm, Neoplasm of the tongue, Acantholysis ORPHA:69745
Maffucci Syndrome
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... ORPHA:163634
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... OMIM:619949
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Jeune Syndrome
Abnormal clavicle morphology, Toe syndactyly, Short stature, Postaxial hand polydactyly, Short th... ORPHA:474
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Secondary ame... OMIM:615300
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Adrenal hyperplasia, Cryptorchidism, Increased circulating dehydroepiandrosterone-sulfate concent... OMIM:201810
Perrault Syndrome 3
Streak ovary, Short stature, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hor... OMIM:614129
Immunodeficiency, Common Variable, 8, With Autoimmunity
Recurrent respiratory infections, Lymphoproliferative disorder, Lymphoma, Recurrent pneumonia, Se... OMIM:614700
Renpenning Syndrome
Severe short stature, Hypospadias, Diabetes mellitus, Cachexia, Pectus excavatum, Abnormal thumb ... ORPHA:3242
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia, Eleva... OMIM:620103
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ... OMIM:614324
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Short metatarsa... ORPHA:1772
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Decreased circulating aldosterone level, Adr... OMIM:202010
Fanconi Anemia, Complementation Group A
Male infertility, Short stature, Small for gestational age, Hypergonadotropic hypogonadism, Absen... OMIM:227650
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Femoral-Facial Syndrome
Short femur, Short stature, Maternal diabetes, Cryptorchidism, Long penis, Rib fusion, Abnormal r... ORPHA:1988
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim... OMIM:617565
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Recurrent respiratory infections, Recurrent urinary tract infections, Lymphoma, Recurrent upper r... ORPHA:183675
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Breast carcinoma, Squamou... ORPHA:454840
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:618841
Omenn Syndrome
Lymphoma, Sepsis ORPHA:39041
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Premature Ovarian Failure 8
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
Leukocyte Adhesion Deficiency, Type Iii
Recurrent bacterial infections, Sepsis OMIM:612840
Epidermolysis Bullosa, Lethal Acantholytic
Syndactyly, Sandal gap, Acantholysis, Widely spaced toes, Neonatal death, Clinodactyly of the 5th... OMIM:609638
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
Axial Spondylometaphyseal Dysplasia
Thoracic scoliosis, Mild postnatal growth retardation, Proximal femoral metaphyseal irregularity,... ORPHA:168549
Hyperkeratosis Lenticularis Perstans
Basal cell carcinoma, Squamous cell carcinoma ORPHA:409
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Broad hallux phalanx, Hypoplasia of penis, Toe syndactyly, Short stature, Metatarsus valgus, Apla... ORPHA:3082
Fanconi Anemia, Complementation Group E
Pancytopenia, Small for gestational age, Cryptorchidism, Thrombocytopenia, Reticulocytopenia, Ane... OMIM:600901
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Short stature, Abnormal rib morphology, Hypoplasia of the uterus, Azoospermia, Bicornuate uterus,... OMIM:601076
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Short stature, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Tri... OMIM:617405
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Sepsis ORPHA:231154
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Decreased serum estradiol, Triphalangeal thumb, Aplasia of the ovary, Aplasia/hypoplasia of the u... ORPHA:2232
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent urinary tract infections, Sepsis, Recurrent candida infections, Recurrent infections, R... ORPHA:83471
Paraneoplastic Pemphigus
B-cell lymphoma, Thymoma, Sarcoma ORPHA:63455
Fanconi Anemia, Complementation Group T
Chromosomal breakage induced by crosslinking agents OMIM:616435
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placement of thumb, ... ORPHA:93267
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Classic Galactosemia
Sepsis ORPHA:79239
Fanconi Anemia, Complementation Group D1
Chromosomal breakage induced by crosslinking agents OMIM:605724
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Sepsis ORPHA:544503
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Hereditary Breast And/Or Ovarian Cancer Syndrome
Neoplasm of the pancreas, Breast carcinoma, Ovarian neoplasm, Melanoma, Prostate cancer ORPHA:145
Prune Belly Syndrome
Congenital hip dislocation, Pectus excavatum, Cryptorchidism, Abnormal rib morphology, Decreased ... ORPHA:2970
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Neonatal sepsis, Recurrent infections OMIM:614739
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent respiratory infections, Recurrent pneumonia, Sepsis, Recurrent sinusitis, Recurrent oti... OMIM:618986
Fanconi Anemia, Complementation Group C
Short stature, Small for gestational age, Hypergonadotropic hypogonadism, Absent thumb, Absent ra... OMIM:227645
Cog4-Cdg
Neonatal sepsis, Recurrent upper respiratory tract infections, Recurrent infection of the gastroi... ORPHA:263501
Lamellar Ichthyosis
Recurrent respiratory infections, Sepsis ORPHA:313
Kyphomelic Dysplasia
Bowing of the long bones, Anterior rib cupping, Missing ribs, Lateral clavicle hook, Short thorax... ORPHA:1801
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Anemia ORPHA:3204
Netherton Syndrome
Recurrent respiratory infections, Recurrent infection of the gastrointestinal tract, Sepsis OMIM:256500
Müllerian Aplasia And Hyperandrogenism
Short stature, Obesity, Primary amenorrhea, Shield chest, Hypoplasia of the uterus, Increased ser... ORPHA:247768
Immunodeficiency 54
Chromosome breakage OMIM:609981
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ... OMIM:620311
Pemphigus Vulgaris
Weight loss, Acantholysis ORPHA:704
Acrokeratosis Verruciformis Of Hopf
Parakeratosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Verrucae ORPHA:79151
Craniodiaphyseal Dysplasia
Diaphyseal thickening, Abnormal rib morphology, Short stature ORPHA:1513
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neonatal sepsis, Recurrent viral infections, Recurrent upper respiratory tract infections, Recurr... ORPHA:169154
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Immunodeficiency 68
Sepsis OMIM:612260
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Sepsis OMIM:616100
Autosomal Recessive Spondylocostal Dysostosis
Rib segmentation abnormalities, Finger syndactyly, Short stature, Hypospadias, Camptodactyly of f... ORPHA:2311
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... ORPHA:174
Aarskog-Scott Syndrome
Short palm, Hyperextensibility of the finger joints, Syndactyly, Decreased serum testosterone con... OMIM:305400
Premature Ovarian Failure 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... OMIM:615724
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Rhizomelia, Short stature, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of t... ORPHA:163966
De Sanctis-Cacchione Syndrome
Parakeratosis, Severe short stature, Bilateral cryptorchidism, Defective DNA repair after ultravi... OMIM:278800
Fanconi Anemia, Complementation Group V
Chromosomal breakage induced by crosslinking agents OMIM:617243
Whim Syndrome
Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Recurrent bacterial in... ORPHA:51636
Gonadoblastoma
Gonadal calcification, Dysgerminoma, Increased serum testosterone level, Gonadal dysgenesis with ... ORPHA:206484
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Palmoplantar Carcinoma, Multiple Self-Healing
Carcinoma, Squamous cell carcinoma OMIM:615225
Heart Defects-Limb Shortening Syndrome
Mesomelic/rhizomelic limb shortening, Disproportionate short stature, Abnormal rib morphology, Na... ORPHA:1354
Calciphylaxis
Sepsis ORPHA:280062
Frasier Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Male pseu... ORPHA:347
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... ORPHA:95699
Cowden Syndrome 1
Fibroadenoma of the breast, Breast carcinoma, Carcinoma, Hamartomatous polyposis, Recurrent infec... OMIM:158350
Lethal Acantholytic Erosive Disorder
Acantholysis, 4-5 finger syndactyly, 2-3 finger syndactyly, Clinodactyly of the 5th finger, Intra... ORPHA:158687
10Q22.3Q23.3 Microduplication Syndrome
Ambiguous genitalia, Abnormal clavicle morphology, Abnormal rib morphology, Hypospadias ORPHA:276422
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Infant Acute Respiratory Distress Syndrome
Sepsis ORPHA:70587
Fanconi Anemia, Complementation Group O
Death in infancy, Miscarriage, External genital hypoplasia, Short stature, Cryptorchidism, Neonat... OMIM:613390
Ataxia-Telangiectasia
Abnormality of chromosome stability ORPHA:100
Pgm3-Cdg
Recurrent respiratory infections, Recurrent viral infections, Lymphoma, Recurrent pneumonia, Seps... ORPHA:443811
Oncogenic Osteomalacia
Neoplasm of the skeletal system, Neoplasm of head and neck, Neurofibroma, Carcinoma, Giant cell t... ORPHA:352540
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents OMIM:619060
Kid Syndrome
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Sepsis, Recurrent can... ORPHA:477
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Adult Acute Respiratory Distress Syndrome
Sepsis ORPHA:70578
Ciliary Dyskinesia, Primary, 37
Female infertility, Goiter OMIM:617577
Fragile X Syndrome
Folate-dependent fragile site at Xq28 OMIM:300624
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Acantholysis, Growth delay, Palmoplantar keratoderma, Orthokeratosis, Failure to thrive, Reduced ... OMIM:615508
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Spina bifida ORPHA:2476
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Bifid scrotum, Cryptorchidism, Glandular hypospadias, Thin ribs, Blind vagina, Micropenis, Penile... ORPHA:456328
Juberg-Hayward Syndrome
Severe short stature, Hypospadias, Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnorma... ORPHA:2319
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... OMIM:308750
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy, Premature ovarian insufficiency, Short stature, Female infertility OMIM:619518
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Acantholysis, Palmoplantar hyperkeratosis, Clubbing of fingers, Palmoplantar keratoderma, Failure... OMIM:605676
Xeroderma Pigmentosum Variant
Melanoma, Basal cell carcinoma, Squamous cell carcinoma ORPHA:90342
Heme Oxygenase 1 Deficiency
Sepsis OMIM:614034
Acute Lung Injury
Sepsis ORPHA:178320
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, B-cell lymphoma, Myelodysplasia, Hematological neoplasm, T-cell lymphoma,... ORPHA:158057
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Inhalational Anthrax
Sepsis ORPHA:247257
Schöpf-Schulz-Passarge Syndrome
Ovarian neoplasm, Basal cell carcinoma, Squamous cell carcinoma ORPHA:50944
Trisomy 13
Displacement of the urethral meatus, Cryptorchidism, Postaxial hand polydactyly, Abnormal rib mor... ORPHA:3378
3M Syndrome
Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, Short stature, Hypospadias,... ORPHA:2616
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metacarpal, Short metatarsal, Abnormal rib morphology, Abnormal carpal morphology, Pectus c... ORPHA:93351
Cat-Eye Syndrome
Intrauterine growth retardation, Hip dysplasia, Abnormal rib morphology, Short stature ORPHA:195
Complete Androgen Insensitivity Syndrome
Male infertility, Germ cell neoplasia, Testicular neoplasm, Elevated circulating luteinizing horm... ORPHA:99429
Fanconi Anemia, Complementation Group D2
Pancytopenia, Small for gestational age, Cryptorchidism, Thrombocytopenia, Patent ductus arterios... OMIM:227646
Microcephalic Primordial Dwarfism, Toriello Type
Severe short stature, Abnormal rib morphology, Abnormal epiphysis morphology, Intrauterine growth... ORPHA:2643
Agammaglobulinemia, X-Linked
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent pneumonia, Se... OMIM:300755
Breast-Ovarian Cancer, Familial, Susceptibility To, 2
Breast carcinoma, Ovarian neoplasm OMIM:612555
Punctate Palmoplantar Keratoderma Type 1
Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ... ORPHA:79501
Mucopolysaccharidosis-Plus Syndrome
Recurrent bronchopulmonary infections, Recurrent respiratory infections, Recurrent pneumonia, Sepsis OMIM:617303
Immunodeficiency With Hyper-Igm, Type 1
Recurrent bacterial infections, Recurrent lower respiratory tract infections, Sepsis, Chronic ora... OMIM:308230
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Neoplasm of the heart, Sepsis ORPHA:2241
Fragile X Syndrome
Folate-dependent fragile site at Xq28 ORPHA:908
Meningococcal Meningitis
Sepsis ORPHA:33475
Ovarian Fibrothecoma
Diffuse leiomyomatosis, Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Abnormal ... ORPHA:314478
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Recurrent viral infections, Recurrent pneumonia, Squamous cel... OMIM:243700
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal pelvic girdle bone morphology, Intrauterine growth retardation, Slender long bone, Abnor... ORPHA:1506
Peroxisome Biogenesis Disorder 12A (Zellweger)
Sepsis OMIM:614886
Laterality Defects, Autosomal Dominant
Asplenia OMIM:601086
Becker Nevus Syndrome
Supernumerary nipple, Pectus excavatum, Hypoplastic labia minora, Abnormal tibia morphology, Rib ... ORPHA:64755
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia OMIM:618948
Autosomal Recessive Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Postnatal growth retardation, Thin clavicles,... ORPHA:93324
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... OMIM:228300
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele ORPHA:101030
Cyclic Neutropenia
Recurrent tonsillitis, Sepsis ORPHA:2686
Prostate Cancer
Prostate cancer OMIM:176807
Metatropic Dysplasia
Severe short stature, Camptodactyly of finger, Abnormal rib morphology, Long thorax, Halberd-shap... ORPHA:2635
Meier-Gorlin Syndrome 1
Lateral clavicle hook, Flat glenoid fossa, Pectus carinatum, Cutaneous finger syndactyly, Short p... OMIM:224690
Fanconi Anemia, Complementation Group S
Chromosome breakage OMIM:617883
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Folate-dependent fragile site at Xq28 ORPHA:85327
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Short stature, Absent thumb, Cryptorchidism, Fibular hypopla... OMIM:612447
Fanconi Anemia, Complementation Group Q
Chromosome breakage OMIM:615272
Meckel Syndrome, Type 2
Encephalocele, Intrauterine growth retardation, Meningocele, Anencephaly OMIM:603194
Scedosporiosis
Sepsis ORPHA:449280
Grant Syndrome
Bowing of the long bones, Short stature, Abnormal rib morphology, Abnormal pelvic girdle bone mor... ORPHA:2097
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Spermatogenic Failure 14
Male infertility, Azoospermia, Elevated circulating follicle stimulating hormone level, Abnormal ... OMIM:615842
Myotubular Myopathy With Abnormal Genital Development
Bifid scrotum, Unilateral cryptorchidism, Hypospadias, Bilateral cryptorchidism, Glandular hyposp... OMIM:300219
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Abnormal rib morphology, Diaphyseal thickening ORPHA:2790
Superficial Epidermolytic Ichthyosis
Palmoplantar keratoderma, Acantholysis ORPHA:455
Familial Benign Chronic Pemphigus
Hyperkeratosis, Acantholysis ORPHA:2841
Aromatase Deficiency
Eunuchoid habitus, Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism... ORPHA:91
Darier-White Disease
Enlargement of parotid gland, Subungual hyperkeratotic fragments, Acantholysis OMIM:124200
Large Congenital Melanocytic Nevus
Rhabdomyosarcoma, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Sarcoma ORPHA:626
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent viral infections, Recurrent pharyngitis, Recurrent upper respiratory tract infections, ... ORPHA:293978
Glioma Susceptibility 3
Acute myeloid leukemia, Glioblastoma multiforme, Astrocytoma, B Acute Lymphoblastic Leukemia, Med... OMIM:613029
Secondary Short Bowel Syndrome
Sepsis ORPHA:95427
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Intrauterine growth retardation OMIM:611134
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Follicular hyperkeratosis, Acantholysis OMIM:616295
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Staphylococcal Necrotizing Pneumonia
Sepsis ORPHA:36238
Microphthalmia, Syndromic 9
Patent ductus arteriosus, Cryptorchidism, Hypoplastic spleen, Multilobulated spleen OMIM:601186
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Squamous cell carcinoma of the skin, Sepsis, Recurrent infections ORPHA:79396
Legionnaires Disease
Recurrent pharyngitis, Sepsis ORPHA:549
Lassa Fever
Sepsis ORPHA:99824
Septopreoptic Holoprosencephaly
Precocious puberty, Anterior hypopituitarism, Central diabetes insipidus, Abnormal rib morphology ORPHA:280195
Ventilator-Induced Diaphragmatic Dysfunction
Sepsis ORPHA:505395
Pearson Syndrome
Hepatomegaly, Reticulocytosis, Pancytopenia, Pancreatic fibrosis, Small for gestational age, Thro... ORPHA:699
Congenital Disorder Of Glycosylation, Type Iig
Thoracic scoliosis, Rhizomelia, Short stature, Failure to thrive in infancy, Hypospadias, Postnat... OMIM:611209
Ellis-Van Creveld Syndrome
Hypospadias, Hypoplastic iliac wing, Cryptorchidism, Epispadias, Capitate-hamate fusion, Postaxia... OMIM:225500
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Short stature, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holopro... ORPHA:1908
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Multiple rib fractures, Short femur, Small for gestational age, Hypospadias, Fractured radius, Be... OMIM:616897
Cryptococcosis
Lymphoid leukemia, Neoplasm, Sepsis ORPHA:1546
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Supernumerary nipple, Cryptorchidism, Postaxial hand polydactyly, Abnormal rib morphology, Congen... ORPHA:2519
Schisis Association
Encephalocele, Anencephaly, Spina bifida ORPHA:63862
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Craniodiaphyseal Dysplasia, Autosomal Dominant
Elevated circulating parathyroid hormone level, Thickened ribs, Short stature, Diaphyseal sclerosis OMIM:122860
Kenny-Caffey Syndrome, Type 1
Long clavicles, Proportionate short stature, Thin clavicles, Small hand, Thin ribs, Birth length ... OMIM:244460
Hypoglossia With Situs Inversus
Asplenia, Polysplenia OMIM:612776
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Th... ORPHA:249
Tetragametic Chimerism
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:199310
Leopard Syndrome 1
Scapular winging, Short stature, Hypospadias, Missing ribs, Pectus excavatum, Cryptorchidism, Pec... OMIM:151100
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Deformed humerus, Abnormalit... ORPHA:2975
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Hypoplasia of the ulna, Hypoplastic scapulae, Finger syndactyly, Sp... ORPHA:958
Congenital Enterovirus Infection
Sepsis ORPHA:292
Alg12-Cdg
Recurrent respiratory infections, Recurrent ear infections, Recurrent pharyngitis, Recurrent pneu... ORPHA:79324
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Hypospadias, Short stature, Pectus excavatum, Abnormal rib morpholo... ORPHA:2522
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Neonatal sepsis, Recurrent respiratory infections, Recurrent urinary tract infections, Recurrent ... OMIM:612541
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... ORPHA:1916
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hypoplasia of penis, Hypogonadotropic hypogonadism, Short stature, Abnormal rib morphology, Pectu... ORPHA:3068
Avian Influenza
Sepsis ORPHA:454836
Immunodeficiency 59 And Hypoglycemia
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Sepsis OMIM:233600
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Short stature, Split hand, Abnormal rib morphology, Intrauterine growth retard... ORPHA:2145
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses of the phalanges of the... OMIM:609616
Shwachman-Diamond Syndrome
Acute myeloid leukemia, Myelodysplasia, Recurrent viral infections, Sepsis, Recurrent bacterial i... ORPHA:811
Thoracolaryngopelvic Dysplasia
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ... OMIM:187760
Chronic Granulomatous Disease
Recurrent respiratory infections, Sepsis ORPHA:379
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Clinodactyly of the 5th finger, Syndactyly, Toe syndactyly, Testicular atrophy OMIM:601163
Vacterl/Vater Association
Bifid scrotum, Finger syndactyly, Hypoplasia of penis, Hypospadias, Cryptorchidism, Preaxial hand... ORPHA:887
Hypophosphatasia
Bowing of the long bones, Failure to thrive in infancy, Short stature, Abnormal rib morphology, N... ORPHA:436
Toxic Epidermal Necrolysis
Weight loss, Abnormal vagina morphology, Acantholysis ORPHA:537
Endove Syndrome, Limb-Only Type
Neonatal sepsis OMIM:619217
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Syndactyly, Thoracic hypoplasia, Postaxial polydactyly, Lateral clavicle hook, Hypoplastic ilia, ... OMIM:617895
Wiskott-Aldrich Syndrome
Recurrent respiratory infections, Lymphoma, Chronic leukemia, Sepsis, Acute leukemia, Neoplasm ORPHA:906
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Cryptorchidism, Bell-shaped thorax, Growth delay, Failure to thrive, Horizontal ribs OMIM:614857
Ovarian Fibroma
Odontogenic keratocysts of the jaw, Ovarian fibroma, Gonadal calcification, Basal cell carcinoma,... ORPHA:314473
Mesomelic Dysplasia, Kantaputra Type
Short stature, Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal r... ORPHA:1836
Fibrochondrogenesis 1
Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Rhizomelia, Dumbbell-sh... OMIM:228520
Schopf-Schulz-Passarge Syndrome
Basal cell carcinoma, Poroma, Apocrine hidrocystoma, Squamous cell carcinoma OMIM:224750
Currarino Syndrome
Recurrent urinary tract infections, Presacral teratoma, Sepsis OMIM:176450
Acrocapitofemoral Dysplasia
Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short palm, Hypoplast... OMIM:607778
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida OMIM:207950
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Fibrochondrogenesis 2
Hypoplastic ischia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplastic pubic bone, ... OMIM:614524
Fanconi Anemia, Complementation Group U
Chromosome breakage OMIM:617247
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Coxa vara, Pectus carinatum, Broad ribs, Rhizomelia, Iliac crest serrat... ORPHA:239
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Interphalangeal joint contracture of finger, Cupped ribs, Cryptorchidism, Short ... ORPHA:1145
Achondrogenesis Type 1B
Severe short stature, Short thorax, Abnormal rib morphology, Disproportionate short stature, Shor... ORPHA:93298
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Cupped ribs, Obesity... OMIM:250420
Holt-Oram Syndrome