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Gene: Olfm1 MGI:1860437

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
olfactomedin 1
Synonyms:
Noelin 1,  Noelin 2,  Pancortin 1-4

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Olfm1 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 Olfm1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Premature Ovarian Failure 7
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612964
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Sparse axillary hair, Sparse pubic hair, Decreased circulating dih... OMIM:228300
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Sparse axillary hair, Sparse pubic hair, Cryptorchidism, Primary a... OMIM:146110
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi... OMIM:612310
46,Xy Sex Reversal 1
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... OMIM:400044
Ovarian Dysgenesis 4
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Primary ameno... OMIM:616185
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Androgen Insensitivity Syndrome
Absent facial hair, Elevated circulating luteinizing hormone level, Sparse axillary hair, Sparse ... OMIM:300068
Ovarian Dysgenesis 7
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:618117
Ovarian Dysgenesis 10
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:619834
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ... OMIM:620311
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ... OMIM:273250
Hypogonadism-Cataract Syndrome
Male hypogonadism, Elevated circulating follicle stimulating hormone level, Hypogonadism, Inferti... OMIM:240950
Premature Ovarian Failure 15
Irregular menstruation, Secondary amenorrhea, Elevated circulating follicle stimulating hormone l... OMIM:618096
Premature Ovarian Failure 8
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Premature Ovarian Failure 16
Elevated circulating follicle stimulating hormone level, Premature ovarian insufficiency, Decreas... OMIM:618723
Hyperprolactinemia
Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea, Female infertility OMIM:615555
Premature Ovarian Failure 17
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Decreased inhibi... OMIM:619146
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Absent pubic hair,... ORPHA:90793
Ovarian Dysgenesis 5
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:617690
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
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... OMIM:614129
Ovarian Dysgenesis 8
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasti... OMIM:618187
Premature Ovarian Failure 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... OMIM:615724
Premature Ovarian Failure 2A
Elevated circulating luteinizing hormone level, Premature ovarian insufficiency, Elevated circula... OMIM:300511
Premature Ovarian Failure 20
Secondary amenorrhea, Elevated circulating luteinizing hormone level, Elevated circulating follic... OMIM:619938
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Premature Ovarian Failure 11
Elevated circulating follicle stimulating hormone level, Oligomenorrhea, Secondary amenorrhea OMIM:616946
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... OMIM:619949
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
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
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ... OMIM:614324
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Obesity, Primary ameno... OMIM:610628
Premature Ovarian Failure 14
Elevated circulating luteinizing hormone level, Decreased serum estradiol, Elevated circulating f... OMIM:618014
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Decreased serum estradiol, Male hypogonadism, Hypogonadotropic hypogonad... ORPHA:52901
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Decreased serum estradiol, Decreased circulating androgen... ORPHA:90796
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty OMIM:300604
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Ovari... ORPHA:251510
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Primary amenorrhea, Small pituitary gland... OMIM:612702
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia
Hyposmia, Hypogonadotropic hypogonadism OMIM:615266
Spermatogenic Failure 14
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... OMIM:615842
Ring Chromosome Y Syndrome
Male infertility, Bifid scrotum, Ambiguous genitalia, Streak ovary, Unilateral cryptorchidism, Hy... ORPHA:261529
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Primary amenorrhea, Decreased testicular ... OMIM:614858
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Primary amenorrhea, Micropenis, Decreased... OMIM:614841
Ovarian Dysgenesis 1
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea OMIM:233300
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Cryptorchidism, Anosmia, Primary amenorrhea, Decreased circulating luteinizing hormone level, Dec... OMIM:614897
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Primary amenorrhea, Absence of pubertal d... OMIM:614837
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Cryptorchidism, Anosmia, Pri... OMIM:616030
Asherman Syndrome
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... ORPHA:137686
Hypergonadotropic Hypogonadism-Cataract Syndrome
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of secondary se... ORPHA:2410
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... OMIM:229070
Premature Ovarian Failure 1
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation OMIM:311360
X-Linked Intellectual Disability, Cilliers Type
Hypergonadotropic hypogonadism, Prominent nasal bridge, Hypospadias, Shyness, Cryptorchidism, Inc... ORPHA:163971
X-Linked Intellectual Disability, Van Esch Type
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... ORPHA:163976
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Anosmia, Primary amenorrh... OMIM:618841
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Endometriosis, Susceptibility To, 1
Decreased fertility, Dysmenorrhea, Endometriosis OMIM:131200
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Anosmia, Primary amenorrhea, Small pituitary gland, Micropenis, Decreased testicu... OMIM:614880
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
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
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hyposmia, Azoospermia, Focal T2 hyperintense thalamic lesion, Hypergonadotropic hypogonadism OMIM:613724
Leydig Cell Hypoplasia
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... ORPHA:755
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Hypogonadotropic hypogonadism, Choanal atresia, Cryptorchidism, Anosmia, Primary amenorrhea, Dela... OMIM:147950
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Increased circulating ren... ORPHA:168558
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Wide nose, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test,... OMIM:300845
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Primary amenorrhea, Hyposmia, Micropenis OMIM:244200
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, In... ORPHA:289548
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Cortisone Reductase Deficiency 1
Alopecia, Precocious puberty, Obesity, Infertility, Oligomenorrhea, Hirsutism OMIM:604931
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Hypogonadotropic hypogonadism, Anosmia, Primary amenorrhea, Decreased circulating luteinizing hor... OMIM:614839
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Small scrotum, Hypogon... OMIM:308700
Precocious Puberty, Central, 1
Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti... OMIM:176400
Familial Hyperprolactinemia
Female hypogonadism, Hemorrhagic ovarian cyst, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea ORPHA:397685
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... OMIM:612965
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... ORPHA:99429
Chromosome Xq27.3-Q28 Duplication Syndrome
Small for gestational age, Cryptorchidism, Increased circulating gonadotropin level, Bulbous nose... OMIM:300869
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Primary ameno... OMIM:615300
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
Kallmann Syndrome With Spastic Paraplegia
Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypog... OMIM:308750
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypoplasia of penis, Hypogon... ORPHA:478
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Eunuchoid habitus, Narrow nasal base, Wide nose, Cleft ala nasi, Elevated circulating luteinizing... ORPHA:3044
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Hypogonadotropic hypogonadism, Anosmia, Bifid nose, Hyposmia, Micropenis, Decreased testicular size OMIM:614838
46,Xx Gonadal Dysgenesis
Streak ovary, Premature ovarian insufficiency, Sparse pubic hair, Increased circulating gonadotro... ORPHA:243
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Primary amenorrhe... OMIM:614840
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Aplasia/Hypoplasia involving the nose, Hypogonadotropic hypogonadism, Choanal atresia, Abnormalit... ORPHA:1135
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Anosmia, Decreased circulating luteinizing hormone level, Decrease... OMIM:614842
46,Xx Sex Reversal 1
True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, Ovotestis, Sex... OMIM:400045
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Anosmia, Hypogonadism, Absence of pubertal development OMIM:615267
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Cryptorchidism, Anosmia, Hypogonadotropic hypogonadism OMIM:612370
Pituicytoma
Hypopituitarism, Decreased female libido, Hypogonadotropic hypogonadism, Decreased response to gr... ORPHA:251623
Acromesomelic Dysplasia 3
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe... OMIM:609441
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Anosmia, Hypogonadism, Delayed puberty OMIM:615270
Bardet-Biedl Syndrome 19
Hyposmia, Hypogonadism, Obesity, External genital hypoplasia OMIM:615996
Perrault Syndrome 1
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea OMIM:233400
Aarskog-Scott Syndrome
Anteverted nares, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Crypt... OMIM:305400
Gordon Holmes Syndrome
Hypogonadotropic hypogonadism, Secondary amenorrhea, Absence of pubertal development, Primary ame... OMIM:212840
Frasier Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Male pseu... ORPHA:347
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... ORPHA:572333
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Anosmia, Hypogonadism, Short nose, Short nasal septum OMIM:302950
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... ORPHA:399808
49,Xxxyy Syndrome
Eunuchoid habitus, External genital hypoplasia, Abnormality of the testis size, Increased circula... ORPHA:261534
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Decreased response to growth hormone stimulation test, Precocious puberty, Pituitary adenoma, Adr... ORPHA:91354
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Recurrent upper respiratory tract infections, Obesity, Primary amenorrhea... OMIM:614962
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Obesity, Oligomenorrhea, Hirsutism, Amenorrhea OMIM:184700
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Johnson Neuroectodermal Syndrome
Absent eyebrow, Alopecia, Choanal atresia, Absent eyelashes, Bulbous nose, Anosmia, Hypohidrosis,... ORPHA:2316
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Depressed nasal bridge, Female infertility, Highly arched eyebro... OMIM:110100
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Central hypothyroidism, Abnormality... OMIM:616113
Myotonic Dystrophy 2
Frontal balding, Oligozoospermia, Hypogonadism, Type II diabetes mellitus, Elevated circulating f... OMIM:602668
Invasive Mole
Menometrorrhagia ORPHA:99925
Post-Traumatic Pituitary Deficiency
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c... ORPHA:95619
Ovarian Dysgenesis 2
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea... OMIM:300510
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Gorlin Syndrome
Cryptorchidism, Hypogonadotropic hypogonadism, Wide nasal bridge, Abnormality of the sense of smell ORPHA:377
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Bifid scrotum, Hypoplasia of penis, Hypogonadotropic hypogonadism, Synophrys, Anosmia, Abnormal n... ORPHA:1295
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Sparse facial hair, Decreased serum estradiol, Aplasia of the ovary, Aplasia/hypoplasia of the ut... ORPHA:2232
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Wide nasal bridge, Polycystic ovaries ORPHA:2229
Estrogen Resistance Syndrome
Abnormality of the pubic hair, Enlarged polycystic ovaries, Increased circulating gonadotropin le... ORPHA:785
Huntington Disease
Abnormality of the sense of smell, Weight loss, Decreased body mass index, Abnormal libido ORPHA:399
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism... ORPHA:91
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim... OMIM:617565
49,Xyyyy Syndrome
Eunuchoid habitus, External genital hypoplasia, Abnormality of the testis size, Increased circula... ORPHA:99330
46,Xy Sex Reversal 5
Sex reversal, Elevated circulating follicle stimulating hormone level OMIM:613080
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Abnormal hair morphology, Long penis, Oligozoospermia, Macr... ORPHA:3000
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Chronic rhinitis, Female infertility, Goiter OMIM:617577
Pituitary Gigantism
Elevated circulating growth hormone concentration, Amenorrhea, Hyperhidrosis, Increased circulati... ORPHA:99725
Young-Onset Parkinson Disease
Hyposmia, Female sexual dysfunction, Male sexual dysfunction, Impaired social interactions ORPHA:2828
Pituitary Adenoma 1, Multiple Types
Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc... OMIM:102200
Myoectodermal Gonadal Dysgenesis Syndrome
Small for gestational age, Elevated circulating luteinizing hormone level, Underdeveloped nasal a... OMIM:618419
Prolactinoma
Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed puberty, ... ORPHA:2965
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Hirsutism, Secondary amenorrhea, Premature pubarche OMIM:612847
Bardet-Biedl Syndrome 17
Anosmia, Obesity, Hypogonadism, Hyposmia, Micropenis OMIM:615994
Placental Site Trophoblastic Tumor
Metrorrhagia, Amenorrhea ORPHA:99928
Premature Ovarian Failure 5
Streak ovary, Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea, Hypoplas... OMIM:611548
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ovaries, Insulin-resista... ORPHA:280356
Meningioma
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th... ORPHA:2495
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Dyspareunia, Partial vaginal septum, Metrorrhagia, Dysmenorrhea, Abnormal uterine cervix morpholo... ORPHA:3411
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... ORPHA:91347
Septo-Optic Dysplasia Spectrum
Hypoplasia of penis, Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchidism, Anosmia, O... ORPHA:3157
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Hypoplasia of penis, Male pseudohermaphroditism, Dec... ORPHA:983
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility, Reduced circulating prolactin concentration OMIM:264110
Hydrolethalus
Cryptorchidism, Agenesis of corpus callosum, Abnormal fallopian tube morphology, Abnormality of t... ORPHA:2189
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Ovarian Fibrothecoma
Ovarian fibroma, Metrorrhagia, Abnormal circulating hormone concentration, Abnormal endometrium m... ORPHA:314478
Müllerian Aplasia And Hyperandrogenism
Thick eyebrow, Frontal balding, Synophrys, Obesity, Primary amenorrhea, Hypoplasia of the uterus,... ORPHA:247768
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature thelarche, Ambiguous genitalia, female, Premature... ORPHA:90795
Luscan-Lumish Syndrome
Shyness, Long nose, Irregular menstruation, Obesity, Polycystic ovaries, High anterior hairline, ... OMIM:616831
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Failure to thrive, Premature ovarian insufficiency, Female infertility OMIM:619518
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Hyposmia, Delayed puberty OMIM:615271
Ovarian Dysgenesis 6
Absence of pubertal development, Hypergonadotropic hypogonadism, Primary amenorrhea, Hypoplasia o... OMIM:618078
Gray Platelet Syndrome
Epistaxis, Abnormality of the menstrual cycle ORPHA:721
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Small for gestational age, Hypospadias, Vaginal neoplasm, Decrea... ORPHA:1916
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Kleine-Levin Syndrome
Decreased libido, Parosmia, Hyperhidrosis ORPHA:33543
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Micropenis, Hypogonadotropic hypogonadism, Depressed nasal bridge, Cryptorchid... ORPHA:432
Sim1-Related Prader-Willi-Like Syndrome
Small scrotum, External genital hypoplasia, Xerostomia, Clitoral hypoplasia, Premature adrenarche... ORPHA:398079
Leber Congenital Amaurosis 10
Hyposmia OMIM:611755
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... OMIM:619326
Fowler Urethral Sphincter Dysfunction Syndrome
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Hirsutism, Amenorrhea ORPHA:2795
Satoyoshi Syndrome
Nephrogenic diabetes insipidus, Abnormal hair morphology, Hypoplasia of the uterus, Sparse or abs... ORPHA:3130
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Hemochromatosis, Type 2A
Azoospermia, Hypogonadotropic hypogonadism, Infertility, Amenorrhea OMIM:602390
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Wide nose, Maturity-onset diabetes of the young, Precocious puberty, Obesity, Impaired social int... ORPHA:254531
Premature Ovarian Failure 3
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea OMIM:608996
Isolated Splenogonadal Fusion
Abnormal penis morphology, Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circula... ORPHA:457083
Temple Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... ORPHA:254516
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... ORPHA:91351
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Chromosome Xp11.23-P11.22 Duplication Syndrome
Medial flaring of the eyebrow, Prominent nasal bridge, Underdeveloped nasal alae, Precocious pube... OMIM:300801
Body Mass Index Quantitative Trait Locus 19
Anosmia, Hyperinsulinemia, Obesity, Increased serum leptin, Hyposmia OMIM:617885
Methemoglobinemia And Ambiguous Genitalia
Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ... OMIM:250790
Temple Syndrome
Wide nose, Small for gestational age, Anteverted nares, Maturity-onset diabetes of the young, Dep... OMIM:616222
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... ORPHA:2975
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Congenital Generalized Lipodystrophy
Overgrowth of external genitalia, Diabetes mellitus, Precocious puberty in females, Hyperinsuline... ORPHA:528
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... OMIM:300200
Polyembryoma
Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Abnormality of the... ORPHA:180229
8P11.2 Deletion Syndrome
Hypoplasia of penis, Hypogonadotropic hypogonadism, Depressed nasal bridge, Cryptorchidism, Anosm... ORPHA:251066
Gangliocytoma
Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent... ORPHA:251937
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:98754
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypogonadotropic hypogonadism, Cryptorchidism, Male pseudohermaphroditism, Infertility, Ambiguous... ORPHA:752
Bosma Arhinia Microphthalmia Syndrome
Hypogonadotropic hypogonadism, Choanal atresia, Hypospadias, Cryptorchidism, Synophrys, Anosmia, ... OMIM:603457
11Q22.2Q22.3 Microdeletion Syndrome
Abnormal social behavior, Depressed nasal bridge, Obesity, Thick eyebrow ORPHA:444002
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:98793
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypoplasia of penis, External genital hypoplasia, Cryptorchidism, Single naris, Anosmia, Absent n... ORPHA:2250
Frasier Syndrome
Gonadal dysgenesis, Ovarian gonadoblastoma, Male pseudohermaphroditism, Primary amenorrhea OMIM:136680
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:177904
Kallmann Syndrome-Heart Disease Syndrome
Hypogonadotropic hypogonadism, Partial anosmia, Total anosmia, Bilateral cryptorchidism, Delayed ... ORPHA:2326
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:177901
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Male pseudohermaphroditism, Adrenogenital syndrome, Primary amenorrhea, Ambi... OMIM:202110
Pituitary Apoplexy
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:95613
Adenohypophysitis
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... ORPHA:95512
Prader-Willi Syndrome
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... ORPHA:739
Panhypophysitis
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... ORPHA:95513
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Anosmia, Delayed puberty, Micropenis OMIM:619718
X-Linked Acrogigantism
Increased body mass index, Decreased thyroid-stimulating hormone level, Enlarged pituitary gland,... ORPHA:300373
Waardenburg Syndrome, Type 4C
White eyelashes, White eyebrow, Cryptorchidism, Anosmia, Premature graying of hair, Lacrimal glan... OMIM:613266
8Q21.11 Microdeletion Syndrome
Wide nose, Hypoplasia of penis, Underdeveloped nasal alae, Cryptorchidism, Abnormality of the sen... ORPHA:284160
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o... ORPHA:90794
Hemochromatosis, Type 3
Impotence, Hypogonadotropic hypogonadism, Amenorrhea OMIM:604250
48,Xxxy Syndrome
Hypoplasia of penis, Small scrotum, Cryptorchidism, Depressed nasal ridge, Obesity, Azoospermia, ... ORPHA:96263
Peritoneal Cystic Mesothelioma
Menorrhagia, Dyspareunia, Metrorrhagia, Weight loss ORPHA:168816
Hidrotic Ectodermal Dysplasia, Halal Type
Sparse scalp hair, Absent eyebrow, Supernumerary nipple, Absent eyelashes, Irregular menstruation... ORPHA:1809
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Hyperthyroidism, Primary hypercortisolism, Elevated circulating ... ORPHA:562
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Ambiguous genitalia, female, Increased circulating renin le... ORPHA:90791
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Wide nose, Small for gestational age, Anteverted nares, Maturity-onset diabetes of the young, Dep... ORPHA:96184
Moebius Syndrome
Breast aplasia, Hypogonadotropic hypogonadism, Abnormality of the sense of smell ORPHA:570
Magel2-Related Prader-Willi-Like Syndrome
Small scrotum, External genital hypoplasia, Xerostomia, Increased body weight, Clitoral hypoplasi... ORPHA:398069
Solitary Median Maxillary Central Incisor
Abnormal nasopharynx morphology, Midnasal stenosis, Choanal atresia, Decreased response to growth... OMIM:147250
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Primary amenorrhea, Pol... OMIM:604367
Lead Poisoning
Decreased female libido, Small for gestational age, Abnormality of the menstrual cycle, Oligozoos... ORPHA:330015
Gonadoblastoma
Gonadal dysgenesis with female appearance, male, Hirsutism, Gonadal calcification, Dysgerminoma, ... ORPHA:206484
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
Hydatidiform Mole
Hyperthyroidism, Menometrorrhagia, Enlarged uterus ORPHA:99927
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Lig4 Syndrome
Small for gestational age, Prominent nose, Cryptorchidism, Low anterior hairline, Wide nasal brid... OMIM:606593
Sheehan Syndrome
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... ORPHA:91355
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Decreased circulating cortisol level, Precocious puberty, Cryptorchidism, Increased circulating A... OMIM:614736
Inverted Duplicated Chromosome 15 Syndrome
Broad nasal tip, Precocious puberty, Cryptorchidism, Synophrys, Gonadal dysgenesis, Hypogonadism ORPHA:3306
Ciliary Dyskinesia, Primary, 1
Male infertility, Nasal polyposis, Anosmia, Chronic rhinitis OMIM:244400
Akt2-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycys... ORPHA:79085
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Frontal balding, Precocious puberty, Incre... ORPHA:786
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Obesity, Primary amenorrhea,... OMIM:600955
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Metrorrhagia, Precocious puberty, Ovarian neoplasm, Weight loss, Neopla... ORPHA:370348
Leopard Syndrome 1
Hypospadias, Cryptorchidism, Depressed nasal ridge, Micropenis, Hypoplasia of the ovary, Delayed ... OMIM:151100
Thumb Agenesis, Short Stature, And Immunodeficiency
Anosmia, Delayed puberty OMIM:274190
Seckel Syndrome 10
Acute pancreatitis, Diabetes mellitus, Elevated circulating follicle stimulating hormone level, E... OMIM:617253
Glucocorticoid Resistance, Generalized
Irregular menstruation, Increased circulating ACTH level, Increased circulating cortisol level, I... OMIM:615962
Primary Ciliary Dyskinesia
Male infertility, Nasal polyposis, Female infertility, Nasal congestion, Chronic rhinitis, Abnorm... ORPHA:244
Holoprosencephaly
Aplasia/Hypoplasia involving the nose, Diabetes mellitus, Failure to thrive in infancy, Choanal a... ORPHA:2162
Prader-Willi Syndrome
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... OMIM:176270
Tetragametic Chimerism
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:199310
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycys... ORPHA:435651
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:90695
Androgen Insensitivity, Partial
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... OMIM:312300
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Low anterior hairline, Abnormality of the sense of smell ORPHA:3201
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ... OMIM:158330
Satoyoshi Syndrome
Hypoplasia of the uterus, Alopecia, Alopecia universalis, Amenorrhea OMIM:600705
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome
Thick eyebrow, Synophrys, Anosmia, Highly arched eyebrow ORPHA:2057
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Synophrys, Anosmia, Wide nasal bridge, Thick eyebrow OMIM:210745
Peroxisome Biogenesis Disorder 9B
Anosmia, Total anosmia OMIM:614879
Lipe-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycys... ORPHA:435660
Campomelic Dysplasia
Ambiguous genitalia, Male pseudohermaphroditism, Depressed nasal bridge, Abnormality of the sense... ORPHA:140
Acro-Renal-Mandibular Syndrome
Bicornuate uterus, Uterus didelphys, Abnormality of the sense of smell ORPHA:958
Global Developmental Delay With Speech And Behavioral Abnormalities
Precocious puberty, Cryptorchidism, Supernumerary nipple OMIM:619243
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Hyperostosis Cranialis Interna
Hyposmia, Anosmia OMIM:144755
Interstitial Cystitis
Dyspareunia, Abnormal vagina morphology, Abnormal labia morphology, Abnormality of the menstrual ... ORPHA:37202
Hsd10 Disease
Abnormal social behavior ORPHA:391417
Familial Afibrinogenemia
Menometrorrhagia, Epistaxis ORPHA:98880
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Narrow nasal bridge, Depressed nasal bridge, Precocious puberty, Cryptorchidism, Wide nasal bridg... OMIM:620073
Aural Atresia, Congenital
Hyposmia OMIM:607842
Apnea, Obstructive Sleep
Anosmia OMIM:107650
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Supernumerary nipple, Highly arched eyebrow, Cryptorchidism, Obesity, Hyposmia, Micropenis OMIM:618653
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Anteverted nares, Precocious puberty, Bulbous nose, Wide nasal bridge, Decreased body weight OMIM:300958
Indifference To Pain, Congenital, Autosomal Recessive
Hyposmia, Anhidrosis, Anosmia, Hypohidrosis OMIM:243000
Musk, Inability To Smell
Anosmia OMIM:254150
Anosmia For Isobutyric Acid
Partial anosmia OMIM:207000
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... ORPHA:361
Anosmia For Butyl Mercaptan
Anosmia OMIM:270350
Anosmia, Isolated Congenital, X-Linked
Anosmia OMIM:301700
Anosmia, Isolated Congenital
Anosmia OMIM:107200
Isovaleric Acid, Inability To Smell
Anosmia OMIM:243450
Pituitary Carcinoma
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... ORPHA:300385
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Decreased serum insulin-like growth factor 1, Long nose, Elevated circulating gro... ORPHA:85327
Prader-Willi Syndrome Due To Translocation
Narrow nasal bridge, Hypopigmentation of hair, Hypogonadotropic hypogonadism, Anterior pituitary ... ORPHA:177907
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus, Long penis, H... OMIM:262190
Marcus-Gunn Syndrome
Choanal atresia, Abnormality of the sense of smell ORPHA:91412
Silver-Russell Syndrome
Abnormality of male external genitalia, Failure to thrive in infancy, Hypospadias, Cachexia, Prec... ORPHA:813
Bainbridge-Ropers Syndrome
Synophrys, Choanal stenosis, Sparse hair, Anteverted nares, Depressed nasal bridge, Highly arched... OMIM:615485
Carney Complex
Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Ova... ORPHA:1359
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:95494
Mccune-Albright Syndrome
Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... OMIM:174800
Turner Syndrome Due To Structural X Chromosome Anomalies
Alopecia, Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, High... ORPHA:99413
Turner Syndrome
Alopecia, Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, High... ORPHA:881
Mosaic Monosomy X
Alopecia, Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, High... ORPHA:99228
Monosomy X
Alopecia, Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, High... ORPHA:99226
Septopreoptic Holoprosencephaly
Precocious puberty, Anterior hypopituitarism, Central diabetes insipidus ORPHA:280195
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Dystonia 28
Precocious puberty, Bulbous nose, Hypothyroidism ORPHA:589618
Wilson Disease
Weight loss, Failure to thrive, Increased body weight, Abnormality of the menstrual cycle ORPHA:905
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... ORPHA:64739
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... OMIM:201810
Radio-Tartaglia Syndrome
Thick eyebrow, Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Highly arched ey... OMIM:619312
Kufor-Rakeb Syndrome
Hyposmia, Anosmia OMIM:606693
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty, Obesity ORPHA:254525
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Alopecia, Abnormal response to corticotropin releasing hormone ... ORPHA:189427
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Precocious puberty, Fine hair, Woolly scalp hair, Co... ORPHA:79414
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea OMIM:277000
19P13.12 Microdeletion Syndrome
Narrow nasal bridge, Anteverted nares, Hypospadias, Precocious puberty, Cryptorchidism, Synophrys... ORPHA:254346
Refsum Disease, Classic
Anosmia OMIM:266500
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Anosmia OMIM:601152
Fg Syndrome Type 1
Hypospadias, Choanal atresia, Prominent nose, Cryptorchidism, Frontal upsweep of hair, Small pitu... ORPHA:93932
Malignant Migrating Focal Seizures Of Infancy
Precocious puberty, Failure to thrive ORPHA:293181
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
White eyelashes, White eyebrow, Cryptorchidism, Anosmia, Hypohidrosis, White forelock OMIM:609136
Charge Syndrome
Bifid scrotum, Hypogonadotropic hypogonadism, Choanal atresia, Depressed nasal bridge, Highly arc... ORPHA:138
19P13.3 Microduplication Syndrome
Precocious puberty, Underdeveloped nasal alae, Unilateral cryptorchidism, Prominent nose ORPHA:447980
Vaginal Atresia
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ... ORPHA:65681
Refsum Disease
Anosmia ORPHA:773
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant... ORPHA:90301
Donohue Syndrome
Precocious puberty, Long penis, Hyperinsulinemia, Ovarian cyst, Pancreatic islet-cell hyperplasia... OMIM:246200
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior ORPHA:101039
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... ORPHA:652
Somatomammotropinoma
Wide nose, Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating g... ORPHA:314769
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Precocious puberty, Short nose, Anteverted nares OMIM:619356
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Congenital adrenal hyperplasia, Decreased circula... OMIM:202010
Dentici-Novelli Neurodevelopmental Syndrome
Precocious puberty, Prominent nasal bridge OMIM:619877
Ppoma
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Abnormality of the t... ORPHA:97278
Smith-Magenis Syndrome
Failure to thrive in infancy, Anteverted nares, Depressed nasal bridge, Precocious puberty, Synop... ORPHA:819
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Hyposmia, Hypohidrosis OMIM:616488
Grfoma
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Neoplasm of the thym... ORPHA:97261
Klippel-Trénaunay Syndrome
Abnormality of the menstrual cycle ORPHA:90308
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Precocious puberty ORPHA:457260
Basilicata-Akhtar Syndrome
Precocious puberty, Anteverted nares, Choanal stenosis, Wide nasal ridge OMIM:301032
Bardet-Biedl Syndrome 1
Diabetes mellitus, Nephrogenic diabetes insipidus, Obesity, Abnormality of the ovary, Truncal obe... OMIM:209900
Koolen-De Vries Syndrome Due To A Point Mutation
Decreased response to growth hormone stimulation test, Pineal cyst, Thick nasal alae, Hypothyroid... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Pineal cyst, Thick nasal alae, Hypothyroid... ORPHA:363958
Lamb-Shaffer Syndrome
Abnormal social behavior, Broad nasal tip ORPHA:530983
Acromegaly
Wide nose, Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating g... ORPHA:963
Vipoma
Neoplasm of the pancreas, Diabetes mellitus, Follicular thyroid carcinoma, Elevated circulating g... ORPHA:97282
Somatostatinoma
Neoplasm of the pancreas, Diabetes mellitus, Elevated circulating growth hormone concentration, A... ORPHA:97283
8P Inverted Duplication/Deletion Syndrome
Anteverted nares, Frontal balding, Precocious puberty, Cryptorchidism, Synophrys, Wide nasal brid... ORPHA:96092
Ollier Disease
Precocious puberty ORPHA:296
Ovarian Fibroma
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary ORPHA:314473
Rabson-Mendenhall Syndrome
Increased pineal volume, Enlarged ovaries, Wide nose, Anteverted nares, Prominent nasal bridge, T... ORPHA:769
Fibrous Dysplasia Of Bone
Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Testicular neoplasm, Elevated ... ORPHA:249
Optic Pathway Glioma
Precocious puberty ORPHA:2086
Slc35A2-Cdg
Precocious puberty, Lateral ventricle dilatation, Elevated circulating thyroid-stimulating hormon... ORPHA:356961
Hereditary Late-Onset Parkinson Disease
Hyposmia, Weight loss ORPHA:411602
Charge Syndrome
Hypoparathyroidism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:214800
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Large for gestational age, Multiple pancreatic... ORPHA:79644
Carpenter Syndrome 1
Depressed nasal bridge, External genital hypoplasia, Precocious puberty, Cryptorchidism, Obesity OMIM:201000
Parkinson Disease 8, Autosomal Dominant
Hyposmia OMIM:607060
Pallister-Hall Syndrome
Small scrotum, Adrenal hypoplasia, Large for gestational age, Gonadotropin deficiency, Depressed ... ORPHA:672
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Anteverted nares, Decreased response to... OMIM:146510
Glucagonoma
Neoplasm of the pancreas, Diabetes mellitus, Elevated circulating growth hormone concentration, A... ORPHA:97280
Chromosome Xq26.3 Duplication Syndrome
Elevated circulating growth hormone concentration, Pituitary adenoma, Hyperhidrosis, Increased ci... OMIM:300942
Lacrimoauriculodentodigital Syndrome
Choanal atresia, Cryptorchidism, Xerostomia, Anosmia, Bicornuate uterus, Abnormal salivary gland ... ORPHA:2363
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Small for gestational age, Decreased response to growth hormone stimulation test, Hypospadias, Pr... ORPHA:96182
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Waardenburg Syndrome, Type 2E
White eyelashes, White eyebrow, Anosmia, Premature graying of hair, White forelock OMIM:611584
Mend Syndrome
Failure to thrive, Prominent nasal bridge, Cryptorchidism, Abnormal nasal bridge morphology, Abno... ORPHA:401973
Wilson Disease
Hypoparathyroidism, Hyposmia OMIM:277900
Malakoplakia
Orchitis, Prostate neoplasm, Abnormality of the menstrual cycle ORPHA:556
Insulin-Like Growth Factor I Deficiency
Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone concentration, ... OMIM:608747
Multiple Endocrine Neoplasia, Type I
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Pituitary adeno... OMIM:131100
Superficial Siderosis
Anosmia, Partial anosmia ORPHA:247245
Hypoplasminogenemia
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology ORPHA:722
Zollinger-Ellison Syndrome
Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ... ORPHA:913
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Underdeveloped nasal alae, Precocious puberty, Prominent nose, Wide nasal bridge, Fine hair, Trun... ORPHA:2637
Amoebiasis Due To Free-Living Amoebae
Abnormal hypothalamus morphology, Hyposmia, Abnormality of the adrenal glands ORPHA:68
Occipital Horn Syndrome
Coarse hair, Thick hair, Abnormality of the sense of smell ORPHA:198
Cntnap2-Related Developmental And Epileptic Encephalopathy
Precocious puberty, Obesity, Abnormal neuron morphology ORPHA:163681
Phakomatosis Pigmentokeratotica
Precocious puberty, Cryptorchidism, Hyperhidrosis, Patchy alopecia, Pheochromocytoma ORPHA:2874
Myhre Syndrome
Abnormal penis morphology, Hypospadias, External genital hypoplasia, Precocious puberty, Cryptorc... ORPHA:2588
9P13 Microdeletion Syndrome
Anteverted nares, External genital hypoplasia, Highly arched eyebrow, Precocious puberty, Wide na... ORPHA:324313
Kleefstra Syndrome Due To A Point Mutation
Precocious puberty, Failure to thrive, Large for gestational age ORPHA:261652
Pituitary Adenoma 2, Growth Hormone-Secreting
Pituitary adenoma, Elevated circulating growth hormone concentration OMIM:300943
Bronchial Neuroendocrine Tumor
Elevated circulating growth hormone concentration, Increased circulating ACTH level, Pulmonary ca... ORPHA:97287
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... OMIM:610755
Kabuki Syndrome
Hypoplasia of penis, Hypospadias, Highly arched eyebrow, Precocious puberty, Cryptorchidism, Obes... ORPHA:2322
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Sparse scalp hair, Hypospadias, Prominent nasal bridge, Prominent nose, Precocious puberty, Trunc... OMIM:210720
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Pituitary adenoma, Pheochromocytoma, Thyroid c... OMIM:160980
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Curly hair, Anteverted nares, Thick nasal alae, Prominent nose, Precocious puberty, Broad nasal t... OMIM:619950
Bifid Nose With Or Without Anorectal And Renal Anomalies
Precocious puberty, Bulbous nose, Rectovaginal fistula, Bifid nose, Thick eyebrow OMIM:608980
Paternal Uniparental Disomy Of Chromosome 6
Neonatal insulin-dependent diabetes mellitus, Prominent nose, Precocious puberty, Cryptorchidism,... ORPHA:96191
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Anteverted nares, Depressed nasal bridge, Septate vagina, Hypospadi... OMIM:270400
Childhood Absence Epilepsy
Abnormal social behavior ORPHA:64280
Alexander Disease
Diabetes mellitus, Precocious puberty, Hyperhidrosis, Agenesis of corpus callosum, Failure to thr... ORPHA:58
Early-Onset Autosomal Dominant Alzheimer Disease
Abnormal social behavior ORPHA:1020
Schimmelpenning-Feuerstein-Mims Syndrome
Precocious puberty, Alopecia OMIM:163200
Dihydropyrimidine Dehydrogenase Deficiency
Depressed nasal bridge, Anteverted nares, Short nail, Long eyelashes, Prominent nasal tip, Abnorm... ORPHA:1675
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Depressed nasal bridge, Precocious puberty, Wide nasal bridge, Obesity ORPHA:369837
Metachromatic Leukodystrophy, Adult Form
Abnormal social behavior, Neoplasm of the gallbladder ORPHA:309271
Metachromatic Leukodystrophy, Late Infantile Form
Abnormal social behavior ORPHA:309256
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Depressed nasal bridge, Precocious puberty, Synophrys, Obesity, Bifid nose, Cholelithiasis OMIM:301066
Metachromatic Leukodystrophy, Juvenile Form
Abnormal social behavior ORPHA:309263
Wiskott-Aldrich Syndrome
Hypoplasia of the thymus, Epistaxis, Abnormality of the menstrual cycle ORPHA:906
Wolf-Hirschhorn Syndrome
Small for gestational age, Hypospadias, Highly arched eyebrow, Precocious puberty, Cryptorchidism... OMIM:194190
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Precocious puberty, Prominent nasal bridge, Obesity, Type I diabetes mellitus OMIM:619269
African Trypanosomiasis
Alopecia, Abnormality of the menstrual cycle, Abnormality of the endocrine system, Abnormality of... ORPHA:3385
Williams Syndrome
Hypoplasia of penis, Hypogonadotropic hypogonadism, Failure to thrive in infancy, Precocious pube... ORPHA:904
Aicardi Syndrome
Anteverted nares, Precocious puberty, Partial agenesis of the corpus callosum, Lateral ventricle ... OMIM:304050
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Precocious puberty, Cryptorchidism, Bulbous nose, Sparse hair OMIM:616682
Tay-Sachs Disease
Precocious puberty, Abnormal thalamic MRI signal intensity ORPHA:845
Floating-Harbor Syndrome
Narrow nasal bridge, Small for gestational age, Hypospadias, Broad nasal tip, Precocious puberty,... ORPHA:2044
Early Infantile Epileptic Encephalopathy
Depressed nasal bridge, Anteverted nares, Precocious puberty, Micropenis, Failure to thrive ORPHA:1934
Tuberous Sclerosis Complex
Pancreatic endocrine tumor, Pituitary adenoma, Parathyroid hyperplasia, Pheochromocytoma, Parathy... ORPHA:805
Pachydermoperiostosis
Abnormal hair quantity, Abnormal hair pattern, Elevated circulating growth hormone concentration,... ORPHA:2796
Tuberous Sclerosis 1
Precocious puberty, Adenoma sebaceum, Hypothyroidism, Preauricular hair displacement OMIM:191100
Tolchin-Le Caignec Syndrome
Prominent nose, Precocious puberty, Hirsutism, Wide nasal bridge, Thick eyebrow OMIM:618971
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Precocious puberty, Long eyelashes, Hypospadias OMIM:615877
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Abnormality of the endocrine system, Cryptorchidism, Precocious puberty, Abnormality of the anter... ORPHA:438213
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Bulbous nose, Wide nose, Abnormal social behavior, Anteverted nares ORPHA:314647
Aicardi Syndrome
Precocious puberty, Partial agenesis of the corpus callosum, Sparse lateral eyebrow, Delayed puberty ORPHA:50
Neurofibromatosis Type 1
Abnormal hair quantity, Abnormality of the endocrine system, Cryptorchidism, Precocious puberty, ... ORPHA:636
Hypermobile Ehlers-Danlos Syndrome
Cystocele, Decreased fertility, Abnormality of the menstrual cycle ORPHA:285
Sponastrime Dysplasia
Aplasia of the nasal bone, Wide nose, Small for gestational age, Anteverted nares, Depressed nasa... ORPHA:93357
Tuberous Sclerosis 2
Precocious puberty, Adenoma sebaceum, Hypothyroidism OMIM:613254
Pmm2-Cdg
Hypogonadotropic hypogonadism, Prominent nasal bridge, Elevated circulating growth hormone concen... ORPHA:79318
17Q11 Microdeletion Syndrome
Depressed nasal bridge, Precocious puberty, Glomus jugular tumor, Elevated circulating parathyroi... ORPHA:97685
Niemann-Pick Disease Type C
Abnormal social behavior ORPHA:646

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 Olfm1

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 Olfm1.

No publications found that use IMPC mice or data for Olfm1.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Olfm1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Olfm1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Olfm1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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