Gene Summary

Name:
outer dense fiber of sperm tails 1
Synonyms:
N/A

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
male infertility Odf1tm1b(EUCOMM)Hmgu HOM Early adult 0.00
increased circulating iron level Odf1tm1b(EUCOMM)Hmgu HOM Early adult 9.79×10-06
increased circulating phosphate level Odf1tm1b(EUCOMM)Hmgu HOM   Early adult 1.18×10-05

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Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote Ambiguous
Brain N/A homozygote Ambiguous
Ear N/A heterozygote Ambiguous
Ear N/A homozygote Ambiguous
Embryo N/A heterozygote Ambiguous
Embryo N/A homozygote Ambiguous
Eye N/A heterozygote Ambiguous
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote Ambiguous
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote Ambiguous
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote Ambiguous
Forelimb N/A homozygote Ambiguous
Handplate N/A heterozygote Ambiguous
Handplate N/A homozygote Ambiguous
Head N/A heterozygote Ambiguous
Head N/A homozygote Ambiguous
Heart N/A heterozygote Ambiguous
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote Ambiguous
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote Ambiguous
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote Ambiguous
Liver N/A homozygote Ambiguous
Lung N/A heterozygote Ambiguous
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote Ambiguous
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote Ambiguous
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote Ambiguous
Midbrain N/A homozygote Ambiguous
Oral cavity N/A heterozygote Ambiguous
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote Ambiguous
Skin N/A homozygote Ambiguous
Tail somite N/A heterozygote Ambiguous
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote Ambiguous
Tail N/A homozygote Ambiguous

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 0.0%
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
oral cavity 0.0%
skin 0.0%
tail 0.0%
tail somite group 0.0%

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 Lateral Orientation

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

Embryo LacZ

LacZ images wholemount

8 Images

Adult LacZ

LacZ Images Wholemount

2 Images

Human diseases caused by Odf1 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 Odf1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... OMIM:619585
Spermatogenic Failure 65
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... OMIM:619712
Spermatogenic Failure 56
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:619515
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Spermatogenic Failure 84
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... OMIM:620409
Spermatogenic Failure 79
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia OMIM:620196
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Spermatogenic Failure 76
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... OMIM:620084
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... OMIM:301059
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Spermatogenic Failure 39
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... OMIM:618643
Spermatogenic Failure 41
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility OMIM:618670
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:612997
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... OMIM:619696
Spermatogenic Failure 63
Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia OMIM:619689
Spermatogenic Failure 51
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea... OMIM:619177
Spermatogenic Failure 1
Cryptozoospermia, Male infertility, Oligozoospermia OMIM:258150
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:619828
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
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
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... OMIM:617960
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility OMIM:620170
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Partial Chromosome Y Deletion
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Spermatogenic Failure 24
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile... OMIM:617959
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility OMIM:618110
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph... OMIM:301101
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
Spermatogenic Failure 87
Ruffled acrosome, Male infertility OMIM:620500
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 8
Cryptozoospermia, Azoospermia, Oligozoospermia OMIM:613957
Spermatogenic Failure 38
Abnormal axonemal organization of respiratory motile cilia, Tapered sperm head, Abnormal sperm he... OMIM:618433
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Spermatogenic Failure 32
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility OMIM:619145
Spermatogenic Failure, X-Linked, 7
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 85
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... OMIM:620490
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 44
Decreased testicular size, Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Ciliary Dyskinesia, Primary, 50
Reduced progressive sperm motility, Short sperm flagella, Absent inner dynein arms, Reduced sperm... OMIM:620356
Isochromosomy Yp
Decreased testicular size, Azoospermia, Ambiguous genitalia, Male infertility ORPHA:98797
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Ciliary Dyskinesia, Primary, 51
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo... OMIM:620438
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypocalcemic seizures, Male infertility ORPHA:2239
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Isochromosomy Yq
Varicocele, Decreased testicular size, Azoospermia, Gonadal tissue inappropriate for external gen... ORPHA:98798
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Spermatogenic Failure 2
Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia OMIM:108420
Spermatogenic Failure 77
Azoospermia, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Male infertility OMIM:620103
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Spermatogenic Failure 75
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619949
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis... ORPHA:399808
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... ORPHA:399805
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility ORPHA:48
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility ORPHA:3000
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:94090
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:616950
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:146200
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Oligozoospermia OMIM:615703
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Young Syndrome
Azoospermia OMIM:279000
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens, Male infertility OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Absent vas deferens, Male infertility OMIM:277180
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Spermatogenic Failure 28
Decreased testicular size, Non-obstructive azoospermia, Male infertility OMIM:618086
Spondyloepiphyseal Dysplasia, Nishimura Type
Hyperphosphatemia, Hypocalcemia OMIM:618618
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Decreased testicular size, Delayed menarche, Azoospermia, Decreased female lib... ORPHA:52901
Hemochromatosis, Type 5
Abnormal circulating copper concentration, Increased circulating iron concentration, Abnormal cir... OMIM:615517
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
Blue Diaper Syndrome
Hypercalcemia, Hyperphosphatemia ORPHA:94086
Spermatogenic Failure 14
Azoospermia, Male infertility, Round spermatid arrest OMIM:615842
Iron Overload, Susceptibility To
Elevated transferrin saturation, Elevated circulating hepcidin concentration, Elevated hepatic ir... OMIM:620121
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemia, Hypophosphatemic rickets OMIM:241520
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:620197
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Spermatogenic Failure 13
Azoospermia, Male infertility OMIM:615841
Spermatogenic Failure, X-Linked, 4
Azoospermia, Male infertility OMIM:301077
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Hypogonadism, Decreased testicular size, Azoospermia, Primary amenorrhea, Infertility OMIM:229070
Ciliary Dyskinesia, Primary, 34
Immotile sperm, Male infertility, Absent central microtubular pair morphology of respiratory moti... OMIM:617091
Pseudohypoparathyroidism, Type Ic
Hypogonadism, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia OMIM:612462
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:36913
Calciphylaxis
Hyperphosphatemia ORPHA:280062
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Elevated transferrin saturation, Increased circulating ferritin concentration OMIM:205950
Autosomal Recessive Spastic Paraplegia Type 46
Decreased testicular size, Infertility, Abnormal sperm head morphology, Reduced sperm motility, A... ORPHA:320391
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Pseudohypoparathyroidism, Type Ia
Hypogonadism, Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Androgen Insensitivity, Partial
Absent vas deferens, Perineal hypospadias, Bifid scrotum, Hypogonadism, Azoospermia, Cryptorchidi... OMIM:312300
Pseudohypoparathyroidism Type 1B
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:94089
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Premature Ovarian Failure 10
Decreased testicular size, Azoospermia, Hypoplasia of the ovary, Primary amenorrhea, Premature ov... OMIM:612885
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase ORPHA:99845
Gracile Syndrome
Increased circulating iron concentration, Increased serum pyruvate, Increased circulating ferriti... OMIM:603358
Hjv Or Hamp-Related Hemochromatosis
Increased circulating ferritin concentration, Hypogonadism, Abnormality of iron homeostasis, Elev... ORPHA:79230
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Ciliary Dyskinesia, Primary, 12
Abnormal central microtubular pair morphology of respiratory motile cilia, Immotile sperm, Reduce... OMIM:612650
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Ciliary Dyskinesia, Primary, 18
Absent inner dynein arms, Immotile sperm, Absent outer dynein arms, Male infertility OMIM:614874
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Immotile sperm, Absent inner dynein a... OMIM:613807
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:241410
Ciliary Dyskinesia, Primary, 26
Infertility, Absent outer dynein arms, Reduced sperm motility OMIM:615500
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Azoospermia, Infertility, Amenorrhea OMIM:602390
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Hypergonadotropic hypogonadism OMIM:613724
47,Xyy Syndrome
Varicocele, Azoospermia, Cryptorchidism, Oligozoospermia, Micropenis, Macroorchidism, Hypospadias... ORPHA:8
Ciliary Dyskinesia, Primary, 11
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility OMIM:612649
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hypercalcemia, Hyperphosphatemia, Calcinosis OMIM:211900
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia OMIM:617994
Adrenal Hypoplasia, Congenital
Precocious puberty, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Oligozoospermia OMIM:300200
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemia, Hypophosphatemic rickets OMIM:193100
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus ORPHA:2578
Hemochromatosis, Type 2B
Increased circulating iron concentration, Increased circulating ferritin concentration, Hypogonad... OMIM:613313
Ciliary Dyskinesia With Defective Radial Spokes
Immotile sperm, Absent respiratory ciliary axoneme radial spokes OMIM:242670
Hemochromatosis, Type 3
Increased circulating iron concentration, Increased circulating ferritin concentration, Hypogonad... OMIM:604250
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Hypergonadotropic hypogonadism ORPHA:2183
Kenny-Caffey Syndrome, Type 2
Hyperphosphatemia, Hypocalcemia, Transient hypophosphatemia OMIM:127000
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Primary am... OMIM:614837
Functioning Gonadotropic Adenoma
Abnormality of the menstrual cycle, Decreased female libido, Ovarian cyst, Enlarged polycystic ov... ORPHA:91348
Ciliary Dyskinesia, Primary, 40
Infertility, Azoospermia, Absent outer dynein arms OMIM:618300
Sanjad-Sakati Syndrome
Hyperphosphatemia, Hypocalcemia ORPHA:2323
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia OMIM:239000
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated circulating creatine kin... ORPHA:94093
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Reduced sperm motility OMIM:615434
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Ciliary Dyskinesia, Primary, 15
Abnormal axonemal organization of respiratory motile cilia, Immotile sperm, Infertility OMIM:613808
Pseudohypoparathyroidism Type 1C
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Oligomenorrhea, Calcinosis, Hypocalcemic se... ORPHA:79444
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise ORPHA:423
Dent Disease 2
Hypophosphatemia, Elevated circulating creatine kinase concentration OMIM:300555
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Abnormality of the Leydig cells, Azoospermia, Ovarian cyst, Hypogonadotropic h... OMIM:228300
Neonatal Hemochromatosis
Increased circulating iron concentration, Increased circulating ferritin concentration ORPHA:446
Autosomal Dominant Hypocalcemia
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:428
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Hypogonadism, Decreased testicular size, Azoospermia, Cryptorchidism, Primary amenorrhea, Micropenis OMIM:614897
Ciliary Dyskinesia, Primary, 9
Absent outer dynein arms, Male infertility OMIM:612444
Anemia, Hypochromic Microcytic, With Iron Overload 1
Increased circulating iron concentration, Elevated hepatic iron concentration OMIM:206100
Acrodysostosis 1 With Or Without Hormone Resistance
Irregular menstruation, Hyperphosphatemia, Hypogonadism OMIM:101800
Ciliary Dyskinesia, Primary, 22
Infertility, Reduced sperm motility, Absent inner and outer dynein arms OMIM:615444
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Hypophosphatemic rickets OMIM:618913
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Male sexual dysfunction, Bifid scrotum, Bilateral cryptorchidism, Azoosperm... ORPHA:90797
Hyperferritinemia With Or Without Cataract
Abnormal transferrin saturation, Decreased transferrin saturation, Abnormal circulating iron conc... OMIM:600886
Lead Poisoning
Decreased male libido, Abnormality of the menstrual cycle, Decreased female libido, Abnormal sper... ORPHA:330015
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Hemochromatosis, Neonatal
Abnormality of iron homeostasis, Increased circulating iron concentration, Increased circulating ... OMIM:231100
Pseudohypoparathyroidism Type 1A
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Oligomenorrhea, Calcinosis, Hypocalcemic se... ORPHA:79443
Pituitary Dermoid And Epidermoid Cysts
Hypogonadism, Amenorrhea, Oligomenorrhea, Oligozoospermia ORPHA:91351
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia ORPHA:99879
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
46,Xx Sex Reversal 2
Small scrotum, Perineal hypospadias, Bifid scrotum, Non-obstructive azoospermia, Azoospermia, Tru... OMIM:278850
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia ORPHA:89937
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia OMIM:612089
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis ORPHA:75563
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia OMIM:308990
Linear Verrucous Nevus Syndrome
Hypophosphatemia ORPHA:2611
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia ORPHA:93325
46,Xx Sex Reversal 1
Clitoral hypertrophy, Azoospermia, True hermaphroditism, Ovotestis, Bicornuate uterus, Hypospadia... OMIM:400045
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus OMIM:601076
Myotonic Dystrophy 2
Hypogonadism, Oligozoospermia OMIM:602668
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Female pseudohermaphroditism, Ambiguous genitalia, Oligomenorrhea, Oligozoosp... ORPHA:786
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Refractory Celiac Disease
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemia, Increased circulating beta-C-terminal telopeptide concentration, Hypophosphatem... ORPHA:157215
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Hypogonadism, Azoospermia, Elevated hepatic iron co... OMIM:615234
Ciliary Dyskinesia, Primary, 19
Male infertility, Absent inner and outer dynein arms OMIM:614935
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Cryptorch... ORPHA:432
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Hypomagnesemia 3, Renal
Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Hypomagnesemi... OMIM:248250
Fanconi Renotubular Syndrome 1
Hypokalemia, Hypophosphatemia OMIM:134600
Hemochromatosis, Type 4
Elevated transferrin saturation, Impotence, Increased circulating ferritin concentration OMIM:606069
Zinc Deficiency, Transient Neonatal
Decreased serum zinc OMIM:608118
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Abnormal vagina morphology, Abnormal labia morphology, Abnormal scrotum mor... ORPHA:251510
Colchicine Poisoning
Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal blood ion con... ORPHA:31824
Hereditary Amyloidosis With Primary Renal Involvement
Hypogonadism, Oligozoospermia, Abnormal testis morphology, Primary testicular failure, Male infer... ORPHA:85450
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Bilateral cryptorchidism, Aplasia of the uterus... ORPHA:99429
Hemorrhagic Fever-Renal Syndrome
Elevated circulating creatinine concentration, Hyperkalemia, Hyperphosphatemia ORPHA:340
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration ORPHA:466650
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Hypocalcemia OMIM:600081
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Abnormal circulating calcium concentration, Hypophosphatemia, Hypophosphatemic rickets OMIM:241530
Classic Galactosemia
Cryptorchidism, Decreased fertility in females, Oligomenorrhea, Primary amenorrhea, Premature ova... ORPHA:79239
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonad... OMIM:308700
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Elevated transferrin saturation, Unconjugated hyperbilirubinemia, Increased circulating iron conc... ORPHA:766
Cystinosis
Hypokalemia, Hypophosphatemia ORPHA:213
Gapo Syndrome
Hypogonadism, Amenorrhea, Oligozoospermia, Dysmenorrhea ORPHA:2067
Gracile Syndrome
Decreased transferrin saturation, Elevated hepatic iron concentration, Increased circulating ferr... ORPHA:53693
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Hypophosphatemia OMIM:605911
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia OMIM:264700
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypophosphatemia, Hypercalcemia OMIM:600740
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Hypophosphatemia OMIM:616026
Hypophosphatemic Rickets, X-Linked Dominant
Abnormal circulating calcium concentration, Hypophosphatemia, Hypophosphatemic rickets OMIM:307800
Combined Oxidative Phosphorylation Deficiency 55
Hypomagnesemia, Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Hyp... OMIM:619743
Fanconi Renotubular Syndrome 2
Hypophosphatemia OMIM:613388
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia ORPHA:93160
Primary Ciliary Dyskinesia
Abnormal sperm motility, Female infertility, Male infertility ORPHA:244
Hemochromatosis, Type 1
Increased circulating iron concentration, Increased circulating ferritin concentration, Azoosperm... OMIM:235200
Vitamin D-Dependent Rickets, Type 2A
Hypocalcemic seizures, Hypophosphatemia OMIM:277440
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemia, Hypophosphatemic rickets OMIM:300554
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Hypercalcemia, Calcinosis OMIM:239200
Fanconi-Bickel Syndrome
Hypouricemia, Hyperbilirubinemia, Increased serum bile acid concentration, Hypokalemia, Hypophosp... OMIM:227810
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating iron concentration, Increased circulating ferritin concentration, Hypogonad... ORPHA:300298
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Symptomatic Form Of Hfe-Related Hemochromatosis
Increased circulating ferritin concentration, Infertility, Decreased libido, Hypogonadotropic hyp... ORPHA:465508
Beta-Thalassemia
Abnormality of iron homeostasis, Hypogonadotropic hypogonadism ORPHA:848
Bile Acid Synthesis Defect, Congenital, 5
Hyperbilirubinemia, Increased serum bile acid concentration, Increased total iron binding capacity OMIM:616278
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia OMIM:156400
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Irregular menstruation, Male hypogonadism, Precocious puberty in females, Bifid scrotum, Bilatera... ORPHA:90793
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Clitoral hypoplasia, Oligozoospermia OMIM:614813
Aceruloplasminemia
Decreased circulating iron concentration, Aceruloplasminemia, Increased circulating ferritin conc... OMIM:604290
Hereditary Fructose Intolerance
Hypermagnesemia, Hypophosphatemia, Hyperuricemia ORPHA:469
Fanconi-Bickel Syndrome
Hypophosphatemia, Hypertriglyceridemia ORPHA:2088
Juvenile Nephropathic Cystinosis
Hypouricemia, Elevated circulating creatinine concentration, Hypocalcemic tetany, Hypocalcemia, H... ORPHA:411634
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia ORPHA:289157
Aromatase Deficiency
Female infertility, Ambiguous genitalia, female, Female pseudohermaphroditism, Cryptorchidism, En... ORPHA:91
Bloom Syndrome
Premature ovarian insufficiency, Azoospermia, Oligozoospermia, Male infertility ORPHA:125
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypermagnesemia, Hypocalcemic seizures, Hypercalcemia ORPHA:405
Alport Syndrome 3A, Autosomal Dominant
Hypophosphatemia, Azotemia OMIM:104200
Mccune-Albright Syndrome
Irregular menstruation, Hypophosphatemia, Decreased fertility ORPHA:562
Dent Disease 1
Hypophosphatemia OMIM:300009
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ... ORPHA:1772
Cystinosis, Nephropathic
Male hypogonadism, Decreased circulating carnitine concentration, Hypomagnesemia, Hypophosphatemi... OMIM:219800
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal male external genitalia morphology, Abnormal ovarian morphology, Increased size of the c... ORPHA:95699
Ciliary Dyskinesia, Primary, 1
Absent outer dynein arms, Male infertility OMIM:244400
Infantile Nephropathic Cystinosis
Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia ORPHA:411629
Primary Fanconi Renotubular Syndrome
Hypouricemia, Decreased circulating carnitine concentration, Hypophosphatemic rickets, Hypokalemi... ORPHA:3337
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Hypomagnesemia, Transient hypophosphatemia, Hyperkalemia, Mildly elevated c... ORPHA:79102
Opsismodysplasia
Hypophosphatemia OMIM:258480
Congenital Dyserythropoietic Anemia Type Iii
Increased circulating iron concentration, Hyperbilirubinemia, Increased total iron binding capacity ORPHA:98870
Fibrous Dysplasia Of Bone
Hypophosphatemia, Hypercalcemia ORPHA:249
Carney Complex
Precocious puberty, Leydig cell neoplasia, Abnormal sperm motility, Sertoli cell neoplasm, Abnorm... ORPHA:1359
Raine Syndrome
Hypophosphatemia OMIM:259775
Autosomal Dominant Polycystic Kidney Disease
Reduced sperm motility ORPHA:730
Pearson Syndrome
Hypomagnesemia, Hypocalcemia, Hypokalemia, Hypophosphatemia, Hyperalaninemia ORPHA:699
Fructose Intolerance, Hereditary
Hypophosphatemia, Hyperbilirubinemia, Hyperuricemia, Bicarbonaturia OMIM:229600
Beta-Thalassemia Intermedia
Hypogonadism, Abnormality of iron homeostasis, Elevated hepatic iron concentration ORPHA:231222
Oculocerebrorenal Syndrome Of Lowe
Azoospermia, Hyponatremia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia, Hypoammonemia ORPHA:534
Hyperparathyroidism-Jaw Tumor Syndrome
Hypophosphatemia, Hypercalcemia ORPHA:99880
Tetrasomy 9P
Polymicrogyria, Pachygyria, Cryptorchidism, Oligozoospermia, Micropenis, Infertility, Lissencephaly ORPHA:3310
Parathyroid Carcinoma
Hypophosphatemia, Hypercalcemia ORPHA:143
Renal Cysts And Diabetes Syndrome
Atretic vas deferens, Epididymal cyst, Reduced sperm motility, Hypoplasia of the uterus, Bicornua... OMIM:137920
Fanconi Anemia, Complementation Group A
Hypergonadotropic hypogonadism, Cryptorchidism, Male infertility OMIM:227650
Dent Disease
Renal hypophosphatemia, Elevated circulating creatine kinase concentration ORPHA:1652
Autosomal Recessive Hypophosphatemic Rickets
Renal hypophosphatemia, Hypophosphatemic rickets ORPHA:289176
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Hypocalcemia ORPHA:667
X-Linked Hypophosphatemia
Hypophosphatemia ORPHA:89936
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal blood inorganic cation concentration, Increased total iron binding capacity, Hyperglycin... ORPHA:309854
Trichohepatoenteric Syndrome 1
Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Abnormality of iro... OMIM:222470
Dominant Beta-Thalassemia
Abnormality of iron homeostasis ORPHA:231226
Cystic Fibrosis
Male infertility OMIM:219700
Beta-Thalassemia Major
Abnormality of iron homeostasis ORPHA:231214
Cystic Fibrosis
Absent vas deferens, Male infertility ORPHA:586
Syndromic Diarrhea
Abnormality of iron homeostasis ORPHA:84064
Alström Syndrome
Irregular menstruation, Testicular fibrosis, Precocious puberty in females, Hypoplasia of the Ley... 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 Odf1

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 Odf1.

No publications found that use IMPC mice or data for Odf1.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Odf1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Odf1tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Odf1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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