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Gene: Efcab5 MGI:2442440

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Gene Summary

Name:
EF-hand calcium binding domain 5
Synonyms:
4930563A03Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
enlarged ovary Efcab5em1(IMPC)Mbp HOM Early adult 0.00
abnormal testis morphology Efcab5em1(IMPC)Mbp HOM Early adult 0.00
enlarged testis Efcab5em1(IMPC)Mbp HOM Early adult 0.00
abnormal ovary morphology Efcab5em1(IMPC)Mbp HOM Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

48 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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Human diseases caused by Efcab5 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 Efcab5 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
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
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
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
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome
Decreased testicular size ORPHA:436144
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Cryptorchidism, Unilateral Or Bilateral
Cryptorchidism, Unilateral cryptorchidism OMIM:219050
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Oligomenorrhea, Amenorrhea OMIM:184700
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Isochromosomy Yp
Male infertility, Azoospermia, Ambiguous genitalia, Decreased testicular size ORPHA:98797
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Hepatic Adenomas, Familial
Polycystic ovaries OMIM:142330
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Microphallus, Micropenis, Decr... OMIM:614840
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Isochromosomy Yq
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... ORPHA:98798
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney, Elevated circulating growth hormone concentration, ... ORPHA:90301
Partington Syndrome
Macroorchidism ORPHA:94083
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Cardiomegaly OMIM:300886
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... ORPHA:399808
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism OMIM:300238
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased female libido, Decreased response to growth hormone stimu... ORPHA:91348
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea ORPHA:397685
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Gonadal dysg... ORPHA:206484
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... ORPHA:52901
Megalencephaly
Macroorchidism, Long penis ORPHA:2477
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea OMIM:614858
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Microphthalmia, Isolated 4
Absent testis OMIM:613094
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism OMIM:300624
Premature Ovarian Failure 5
Streak ovary, Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea, Hypoplas... OMIM:611548
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre... OMIM:146110
Tetragametic Chimerism
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:199310
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Elevated circulating growth hormone concentration ORPHA:85327
Intellectual Developmental Disorder, X-Linked 92
Decreased testicular size OMIM:300851
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Hypospadias, Dysmenorrhea, Elevated circulating luteinizing hormone lev... ORPHA:90796
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Polycystic ovaries ORPHA:284180
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries ORPHA:1643
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Cryptorchidism, Hypoplasia of penis, Aplasia/Hypoplasia of the testes ORPHA:3055
Rudiger Syndrome
Ovarian cyst, Micropenis, Bicornuate uterus OMIM:268650
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Bifid scrotum, Hypoplasia of penis, Small scrotum, Cryptorchidism, Decreased fertility, Perineal ... ORPHA:753
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism ORPHA:3077
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Secondary amenorrhea, Abnormal spermatogenesis, Azoospermia, Ovari... OMIM:228300
Ovarian Hyperstimulation Syndrome
Enlarged polycystic ovaries, Ovarian cyst, Increased circulating gonadotropin level, Hemorrhagic ... ORPHA:64739
Fragile X Syndrome
Macroorchidism ORPHA:908
Clark-Baraitser syndrome
Macroorchidism OMIM:300602
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... ORPHA:2975
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Lujan-Fryns Syndrome
Macroorchidism ORPHA:776
Polyembryoma
Macroorchidism, Irregular menstruation, Isosexual precocious puberty ORPHA:180229
46,Xx Sex Reversal 4
Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am... OMIM:617480
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Ovarian Dysgenesis 2
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea... OMIM:300510
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim... OMIM:617565
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Abnormal va... OMIM:194072
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the uterus, Hypo... OMIM:614841
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Primary amenorrhea, Azoospermia, Hypogonadism, In... OMIM:229070
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Primary amenorrhea, Hypopl... ORPHA:785
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia, Eleva... OMIM:620103
Premature Ovarian Failure 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... OMIM:615724
Hypogonadotropic Hypogonadism 25 With Anosmia
Cryptorchidism, Micropenis, Hypoplasia of the ovary, Primary amenorrhea OMIM:618841
Ovarian Fibroma
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary ORPHA:314473
46,Xy Sex Reversal 8
Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia OMIM:614279
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Cryptorchidism, Secondary amenorrhea, Polycystic ovaries, Decreas... ORPHA:3085
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Macroorchidism, Male hypogonadism OMIM:300055
Ovarian Dysgenesis 10
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:619834
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Fe... OMIM:612310
Opitz Gbbb Syndrome
Bifid scrotum, Enlarged ovaries, Hypospadias, Cryptorchidism, Bicornuate uterus, Shawl scrotum ORPHA:2745
Premature Ovarian Failure 8
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
Fowler Urethral Sphincter Dysfunction Syndrome
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea ORPHA:2795
Rabson-Mendenhall Syndrome
Enlarged ovaries, Precocious puberty, Long penis, Increased pineal volume, Clitoral hypertrophy ORPHA:769
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Peutz-Jeghers Syndrome
Enlarged polycystic ovaries, Cervix cancer, Pancreatic adenocarcinoma ORPHA:2869
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Polycystic ovaries ORPHA:79084
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Abnormal salivary gland morphology, Enlarged polycystic ovaries, Polycystic ova... ORPHA:2298
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the uterus, Azoo... OMIM:614837
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Elevated circulating growth hormone concentration, Precocious pu... ORPHA:562
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... ORPHA:1916
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Adrenal hyperplasia, Male pseudohermaphroditism, Macroorchidism, Abnormali... ORPHA:90790
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism, Cardiomegaly ORPHA:324410
Persistent Müllerian Duct Syndrome
Cryptorchidism, Male pseudohermaphroditism ORPHA:2856
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Elevated c... OMIM:620311
Ovarian Fibrothecoma
Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Gonadal calcification, Abnormalit... ORPHA:314478
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Small pituitary gland, Micropenis, Decreased testicular size OMIM:614880
Lipodystrophy, Partial, Acquired, Susceptibility To
Polycystic ovaries OMIM:608709
Plin1-Related Familial Partial Lipodystrophy
Infertility, Oligomenorrhea, Polycystic ovaries ORPHA:280356
Lymphatic Malformation 10
Hydrocele testis OMIM:619369
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ... OMIM:614324
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries ORPHA:2228
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Male infertility, Clitoral hypertrophy, Hypospadias, Elevated ... ORPHA:90797
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Macroorchidism, Hypospadias OMIM:618874
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Abnormality of male external genitalia, Adrenal hyperplasia, Abnormal externa... ORPHA:95699
Leprechaunism
Hepatomegaly, Enlarged ovaries, Overgrowth of external genitalia, Labial hypertrophy, Long penis,... ORPHA:508
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Micropenis, Decreased testicul... OMIM:610628
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... OMIM:614129
Distal Deletion 10P
Cryptorchidism, Hypoplasia of penis, Polycystic ovaries ORPHA:1580
Satoyoshi Syndrome
Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the uterus, Abnormality of the ... ORPHA:3130
Familial Adenomatous Polyposis 4
Ovarian cyst, Uterine leiomyoma OMIM:617100
Bangstad Syndrome
Abnormality of the parathyroid gland, Abnormal testis morphology, Polycystic ovaries ORPHA:1227
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Central Precocious Puberty In Male
Pituitary microadenoma, Abnormality of the testis size, Precocious puberty in males ORPHA:649929
Trisomy 20P
Macroorchidism, Cryptorchidism, Hypospadias ORPHA:261318
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Macroorchidism OMIM:309520
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... ORPHA:251510
Carney Complex
Neoplasm of the pancreas, Ovarian dermoid cyst, Pituitary growth hormone cell adenoma, Sertoli ce... ORPHA:1359
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Hypogonadism, Micropenis, Decreased testicular size OMIM:616030
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Azoospermia, Hypogonadism, Micropenis, Decreased testicular size OMIM:614897
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Male infertility, Hypospadias, Precocious puberty in females, Elevated circulating... ORPHA:90793
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Left ventricular hypertrophy, Micropenis, Decreased testicular size, Ri... ORPHA:335
Ataxia-Telangiectasia
Abnormal testis morphology, Polycystic ovaries ORPHA:100
49,Xxxyy Syndrome
External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l... ORPHA:261534
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Oligomenorrhea, Polycystic ovaries ORPHA:79085
Isolated Thyroid-Stimulating Hormone Deficiency
Pituitary hypothyroidism, Macroorchidism, Thyroid hypoplasia, Increased circulating prolactin con... ORPHA:90674
Preeclampsia
Polycystic ovaries ORPHA:275555
Müllerian Aplasia And Hyperandrogenism
Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary, Primary amenorrhea ORPHA:247768
Estrogen Resistance
Hypoplasia of the uterus, Breast aplasia, Primary amenorrhea, Polycystic ovaries OMIM:615363
Congenital Factor Vii Deficiency
Ovarian cyst, Menorrhagia ORPHA:327
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Hypergonadotropic hypogonadism, Secondary amenorrhea, Polycystic ovaries OMIM:268020
Cowden Syndrome
Abnormal penis morphology, Endometrial carcinoma, Enlarged polycystic ovaries, Adenoma sebaceum, ... ORPHA:201
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Isosexual precocious puberty, Premature thelarche, Precocious puberty, Ambiguous genitalia, femal... ORPHA:90795
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Oligomenorrhea, Polycystic ovaries ORPHA:435651
Lipe-Related Familial Partial Lipodystrophy
Abnormal labia majora morphology, Hepatomegaly, Oligomenorrhea, Polycystic ovaries ORPHA:435660
49,Xyyyy Syndrome
External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l... ORPHA:99330
Lipodystrophy, Familial Partial, Type 3
Oligomenorrhea, Primary amenorrhea, Polycystic ovaries OMIM:604367
Congenital Generalized Lipodystrophy
Hepatomegaly, Overgrowth of external genitalia, Precocious puberty in females, Polycystic ovaries... ORPHA:528
Cowden Syndrome 6
Hydrocele testis, Ovarian cyst, Varicocele, Goiter OMIM:615109
Cowden Syndrome 5
Hydrocele testis, Ovarian cyst, Goiter OMIM:615108
Hypoplasminogenemia
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology ORPHA:722
Donohue Syndrome
Precocious puberty, Ovarian cyst, Long penis, Clitoral hypertrophy OMIM:246200
Proteus Syndrome
Thymus hyperplasia, Testicular neoplasm, Enlarged polycystic ovaries, Splenomegaly, Long penis, O... ORPHA:744
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Dysmenorrhea, Splenomegaly, Primary amenorrhea, Polycystic ovaries, Secondary ameno... ORPHA:79083
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Dysmenorrhea, Splenomegaly, Secondary amenorrhea, Polycystic ovaries ORPHA:2348
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Precocious puberty, Macroorchidism OMIM:619950
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Gonadal dysgenesis, Polycystic ovaries ORPHA:1770
Cowden Syndrome 1
Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Varicocele, Goiter OMIM:158350
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Ovarian cyst ORPHA:454840
Pigmented Nodular Adrenocortical Disease, Primary, 2
Ovarian cyst OMIM:610475
Cystic Echinococcosis
Ovarian cyst, Abnormality of the testis size, Hepatomegaly ORPHA:400
Luscan-Lumish Syndrome
Irregular menstruation, Polycystic ovaries OMIM:616831
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Ovarian cyst, Precocious puberty with Sertoli cell tumor, Uterine neoplasm OMIM:175200
Hemihyperplasia-Multiple Lipomatosis Syndrome
Hydrocele testis, Ovarian serous cystadenoma, Enlarged kidney ORPHA:276280
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... OMIM:202010
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... ORPHA:2232
Proteus-Like Syndrome
Splenomegaly, Abnormality of the parathyroid gland, Thymus hyperplasia, Polycystic ovaries ORPHA:2969
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Hypogonadism, Vaginal atresia, Left ventricular hypertrophy, Micropenis... OMIM:209900
Short Syndrome
Ovarian cyst OMIM:269880
Aspartylglucosaminuria
Macroorchidism, Hepatomegaly, Splenomegaly ORPHA:93
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Dysmenorrhea, Splenomegaly, Irregular menstruation, Polycystic ovaries, Oligomenorrhea ORPHA:79240
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Nodular goiter, Premature thelarche, Polycystic ovaries ORPHA:371428
Aspartylglucosaminuria
Macroorchidism, Hepatomegaly OMIM:208400
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Dysmenorrhea, Splenomegaly, Irregular menstruation, Polycystic ovaries, Oligomenorrhea ORPHA:264580
Fibrous Dysplasia Of Bone
Precocious puberty in females, Testicular neoplasm, Elevated circulating growth hormone concentra... ORPHA:249
Hyperparathyroidism, Transient Neonatal
Ovarian cyst, Hyperparathyroidism, Enlarged kidney OMIM:618188
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Elevated circulati... ORPHA:572333
Infantile Systemic Hyalinosis
Polycystic ovaries ORPHA:2176
Chromosome 17Q12 Deletion Syndrome
Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus OMIM:614527
Acquired Generalized Lipodystrophy
Hepatomegaly, Polycystic ovaries ORPHA:79086
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Dysmenorrhea, Splenomegaly, Secondary amenorrhea, Polycystic ovaries ORPHA:280365
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Labial pseudohypertrophy, Polycystic ovaries OMIM:151660
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Cryptorchidism, Vesicovaginal fist... OMIM:201750
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Decreased fertility in females, Splenomegaly, Labial hypertrophy, Polycystic ovarie... OMIM:608594
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Decreased fertility in females, Splenomegaly, Labial hypertrophy, Decreased fertili... OMIM:269700
Orofaciodigital Syndrome I
Pancreatic cysts, Ovarian cyst OMIM:311200
Histiocytoid Cardiomyopathy
Hepatomegaly, Cardiomegaly, Polycystic ovaries ORPHA:137675
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Irregular menstruation, Polycystic ovaries, Menorrhagia, Enlarged kidney ORPHA:79259
Digeorge Syndrome
Parathyroid agenesis, Splenomegaly, Parathyroid hypoplasia, Hydrocele testis, Ovarian cyst, Hypop... OMIM:188400
Turner Syndrome Due To Structural X Chromosome Anomalies
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Se... ORPHA:99413
Turner Syndrome
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Se... ORPHA:881
Mosaic Monosomy X
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Se... ORPHA:99228
Monosomy X
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Se... ORPHA:99226
Williams Syndrome
Hypoplasia of penis, Hypogonadotropic hypogonadism, Cardiomegaly, Precocious puberty, Cryptorchid... ORPHA:904
Alström Syndrome
Hepatomegaly, Precocious puberty in females, Decreased response to growth hormone stimulation tes... ORPHA:64

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 Efcab5

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 Efcab5.

No publications found that use IMPC mice or data for Efcab5.

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MGI Allele Allele Type Produced
Efcab5em1(IMPC)Mbp Exon Deletion Mice
Efcab5tm364367(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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