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Gene: Tial1 MGI:107913

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Gene Summary

Name:
Tia1 cytotoxic granule-associated RNA binding protein-like 1
Synonyms:
mTIAR,  5330433G13Rik,  TIAR

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased circulating calcium level Tial1tm1b(EUCOMM)Wtsi HET Early adult 6.26×10-05
decreased total body fat amount Tial1tm1b(EUCOMM)Wtsi HET Early adult 1.53×10-06
decreased circulating triglyceride level Tial1tm1b(EUCOMM)Wtsi HET   Early adult 2.15×10-05
decreased circulating HDL cholesterol level Tial1tm1b(EUCOMM)Wtsi HET Early adult 9.18×10-08
thrombocytosis Tial1tm1b(EUCOMM)Wtsi HET Early adult 1.54×10-05
increased bone mineral density Tial1tm1b(EUCOMM)Wtsi HET Early adult 3.55×10-06
decreased circulating cholesterol level Tial1tm1b(EUCOMM)Wtsi HET Early adult 8.44×10-09
increased lean body mass Tial1tm1b(EUCOMM)Wtsi HET Early adult 2.35×10-06

Download data as:  TSV  XLS

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Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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.

Legacy Phenotype Associated Images
Tial1tm1b(EUCOMM)Wtsi
HOM, Male, WTSI
Tial1tm1b(EUCOMM)Wtsi
HOM, Male, WTSI

Human diseases caused by Tial1 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 Tial1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male i... OMIM:619528
Spermatogenic Failure 50
Decreased testicular size, Azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619145
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Spermatogenic Failure 32
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:618115
Spermatogenic Failure 71
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:619831
Spermatogenic Failure 73
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619937
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility OMIM:619672
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Isochromosomy Yp
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... ORPHA:98797
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Short stature, Hypospadias, U... ORPHA:261529
Spermatogenic Failure 25
Non-obstructive azoospermia, Male infertility, Decreased testicular size, Cryptozoospermia OMIM:617960
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Splenomegaly, Hepatospl... OMIM:612526
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Oligomenorrhea, Amenorrhea OMIM:184700
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Spermatogenic Failure 20
Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Male infertility OMIM:617593
Isochromosomy Yq
Decreased testicular size, Male infertility, Gonadal tissue inappropriate for external genitalia ... ORPHA:98798
Spermatogenic Failure 29
Non-obstructive azoospermia, Male infertility, Immotile sperm OMIM:618091
Spermatogenic Failure 22
Non-obstructive azoospermia, Male infertility, Cryptozoospermia OMIM:617706
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Elevated circulating C-reactive protein concentration, Microcytic anemia, Elbow fle... OMIM:604416
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Immunodeficiency 69
Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl... OMIM:618963
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
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
Intermediate Osteopetrosis
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Thrombocytope... ORPHA:210110
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Spermatogenic Failure, X-Linked, 5
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, A... OMIM:301099
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Progressive Familial Intrahepatic Cholestasis
Abnormality of thrombocytes, Splenomegaly, Reduced bone mineral density, Hypocalcemia, Failure to... ORPHA:172
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Ovarian Dysgenesis 2
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh... OMIM:300510
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty OMIM:300604
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia OMIM:610539
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... ORPHA:529970
Premature Ovarian Failure 5
Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas... OMIM:611548
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Absent s... OMIM:301059
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea ORPHA:397685
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Hyperprolactinemia
Female infertility, Menorrhagia, Oligomenorrhea, Increased circulating prolactin concentration OMIM:615555
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Spermatogenic Failure 79
Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:620196
Persistent Mullerian Duct Syndrome, Types I And Ii
Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation, Male infertility OMIM:261550
Spermatogenic Failure 11
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Buschke-Ollendorff Syndrome
Connective tissue nevi, Osteopoikilosis, Flexion contracture, Joint stiffness OMIM:166700
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Spermatogenic Failure 42
Male infertility, Coiled sperm flagella, Absent sperm flagella, Tapered sperm head, Microcephalic... OMIM:618745
Premature Ovarian Failure 6
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Fe... OMIM:612310
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Ovarian Dysgenesis 10
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:619834
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L... ORPHA:232
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Male infertility, Immotile sperm OMIM:608653
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... OMIM:614841
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... ORPHA:90796
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration, Ankle flexion contracture OMIM:615883
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second... OMIM:617565
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Hypophosphatemic Rickets, Autosomal Recessive, 1
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... OMIM:241520
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Melorheostosis With Osteopoikilosis
Multiple lipomas, Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 64
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... OMIM:619696
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Hypocalcemia, Hypophosphatemia OMIM:619073
Thrombocythemia 1
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... OMIM:187950
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
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
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Xp22.3 Microdeletion Syndrome
Short stature, Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycyst... ORPHA:1643
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... OMIM:616689
Chylomicron Retention Disease
Failure to thrive, Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocho... OMIM:246700
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Failure to thrive, Clavicular sclerosis OMIM:615198
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614840
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight loss, Salmonella osteomyelitis, Hypoalbumi... OMIM:209950
Thrombocythemia 2
Thrombocytosis OMIM:601977
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Thrombocytosis, Anemia of inadequate production, Megaloblastic a... OMIM:617780
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Thrombocythemia 3
Thrombocytosis OMIM:614521
Perrault Syndrome 3
Streak ovary, Short stature, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hor... OMIM:614129
Aromatase Deficiency
Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Osteopetrosis, Autosomal Recessive 1
Increased bone mineral density, Osteomyelitis, Pancytopenia, Craniosynostosis, Thrombocytopenia, ... OMIM:259700
Pancreatic Lipase Deficiency
Hypocholesterolemia, Steatorrhea OMIM:614338
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Premature Ovarian Failure 8
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... ORPHA:75564
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Ovarian Dysgenesis 3
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... OMIM:614324
Dentin Dysplasia
Increased bone mineral density, Abnormal dental enamel morphology ORPHA:1653
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:618841
Premature Ovarian Failure 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... OMIM:615724
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ... OMIM:620311
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant... ORPHA:90301
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Cortical sclerosis, Hyperkalemia, Elevated circulating creatinine... OMIM:620366
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Gene... ORPHA:53
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol... OMIM:615558
Isolated Osteopoikilosis
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... ORPHA:166119
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Autosomal Recessive Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Hypocalcemia, Hypocalcemic tetany, Decreased skull os... ORPHA:93324
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Osteomesopyknosis
Increased bone mineral density OMIM:166450
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Melorheostosis
Increased bone mineral density, Joint stiffness, Atypical scarring of skin, Hyperostosis, Arthrit... ORPHA:2485
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ... ORPHA:398063
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
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
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Autosomal Dominant Hypophosphatemic Rickets
Osteomalacia, Rickets, Iron deficiency anemia, Hypocalcemia, Hypophosphatemia ORPHA:89937
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Asplenia, Isolated Congenital
Asplenia, Thrombocytosis, Howell-Jolly bodies OMIM:271400
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... OMIM:228300
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Alpha-Heavy Chain Disease
Splenomegaly, Hypocalcemia, Anemia ORPHA:100025
Renal Tubular Acidosis, Distal, 1
Osteomalacia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia, Pathologi... OMIM:179800
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Hypocalcemic Vitamin D-Resistant Rickets
Recurrent fractures, Osteomalacia, Bone cyst, Osteolysis, Abnormal adipose tissue morphology, Hyp... ORPHA:93160
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Failure to thrive, Decreased LDL cholesterol concentrati... OMIM:616834
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary, Premature ovarian insufficiency OMIM:609993
Adamantinoma
Pathologic fracture, Hypercalcemia ORPHA:55881
46,Xx Gonadal Dysgenesis
Streak ovary, Short stature, Premature ovarian insufficiency, Increased circulating gonadotropin ... ORPHA:243
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... ORPHA:86841
Normosmic Congenital Hypogonadotropic Hypogonadism
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Female hypogonadism, N... ORPHA:432
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... OMIM:616950
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia, Obesity OMIM:603233
Asherman Syndrome
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... ORPHA:137686
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... OMIM:620356
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Pseudopseudohypoparathyroidism
Ectopic ossification, Hyperphosphatemia, Hypocalcemia, Obesity ORPHA:79445
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... ORPHA:785
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Hepatic Adenomas, Familial
Maturity-onset diabetes of the young, Polycystic ovaries OMIM:142330
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcem... OMIM:600081
Flynn-Aird Syndrome
Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s... OMIM:136300
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Glycogen Storage Disease Vi
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Failure to thrive in infancy OMIM:232700
X-Linked Agammaglobulinemia
Failure to thrive, Osteomyelitis, Thrombocytopenia, Weight loss, Arthritis, Hypocalcemia, Neutrop... ORPHA:47
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ... OMIM:615300
Autoimmune Hypoparathyroidism
Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemi... ORPHA:36913
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Short stature, Hypogonadotropic hypogonad... ORPHA:2235
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Osteoporosis, Rickets, Weight loss, Iron deficiency anemia, Hypocalcemia, Stea... OMIM:212750
2P21 Microdeletion Syndrome
Failure to thrive, Hypocalcemia ORPHA:163693
Peroxisome Biogenesis Disorder 3B
Elevated circulating phytanic acid concentration, Osteoporosis, Steatorrhea, Failure to thrive, H... OMIM:266510
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Abnormal va... OMIM:194072
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Increased bone mineral density, Recurrent fractures, Splenomegaly, Anemia, Osteo... OMIM:611490
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o... ORPHA:2790
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia, Decreased skull ossification, Calvarial osteosclerosis, Anemia OMIM:244460
Rabson-Mendenhall Syndrome
Enlarged ovaries, Short stature, Precocious puberty, Hypothyroidism, Insulin-resistant diabetes m... ORPHA:769
Osteochondrosis Of The Metatarsal Bone
Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness ORPHA:564003
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Bile Acid Synthesis Defect, Congenital, 1
Conjugated hyperbilirubinemia, Splenomegaly, Rickets, Steatorrhea, Hypocholesterolemia, Failure t... OMIM:607765
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Satoyoshi Syndrome
Short stature, Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary,... ORPHA:3130
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcem... OMIM:264700
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... ORPHA:566943
Pseudohypoparathyroidism, Type Ic
Osteoporosis, Obesity, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Enamel hypoplasia OMIM:612462
Pseudohypoparathyroidism Type 2
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:94090
Hyperparathyroidism 4
Osteopenia, Hypercalcemia OMIM:617343
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Leukopenia, H... OMIM:231095
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Short stature, Cryptorchidism, Hyperinsulinemia, Secondary amenor... ORPHA:3085
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis ORPHA:178377
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Hypocalcemic Vitamin D-Dependent Rickets
Osteomalacia, Delayed epiphyseal ossification, Rickets, Increased susceptibility to fractures, Sp... ORPHA:289157
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Elevated circulating C-reactive protein concentration, Asplenia, Increased circ... OMIM:614034
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology ORPHA:3152
Frasier Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Male pseu... ORPHA:347
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Bone cyst, Hypercalcemia, Anemia ORPHA:2668
Pseudohypoparathyroidism Type 1B
Calcinosis, Increased bone mineral density, Diaphyseal sclerosis, Hyperphosphatemia, Increased bo... ORPHA:94089
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ovaries, Insulin-resista... ORPHA:280356
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Primary Myelofibrosis
Pancytopenia, Extramedullary hematopoiesis, Cachexia, Thrombocytopenia, Leukocytosis, Splenomegal... ORPHA:824
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility, Elevated circulating follicle stimulating hormone level... OMIM:619938
Analbuminemia
Lipodystrophy, Osteoporosis, Elevated circulating transferrin concentration, Increased LDL choles... OMIM:616000
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Obesity OMIM:618406
Axial Osteomalacia
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration OMIM:109130
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Spermatogenic Failure 6
Globozoospermia, Decreased acrosin in sperm head, Male infertility OMIM:102530
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Increased bone mineral density, Small for gestational age, Hyperphosp... OMIM:127000
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Splenomegaly, Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Squalene Synthase Deficiency
Failure to thrive in infancy, Increased circulating farnesol concentration, Elbow flexion contrac... OMIM:618156
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Bangstad Syndrome
Short stature, Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increa... ORPHA:1227
Chylomicron Retention Disease
Hypertriglyceridemia, Acanthocytosis, Steatorrhea, Failure to thrive, Hypocholesterolemia ORPHA:71
Poems Syndrome
Sclerosis of hand bone, Lipodystrophy, Sclerosis of foot bone, Weight loss, Sclerosis of skull ba... ORPHA:2905
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Abnormal subcutaneous fat tissue distribution, Flexion contracture, Hypoalbuminemia, ... OMIM:212065
Osteopetrosis, Autosomal Recessive 5
Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Leu... OMIM:259720
Generalized Pustular Psoriasis
Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Leukocytosis, Ob... ORPHA:247353
Familial Isolated Hyperparathyroidism
Osteopenia, Hypercalcemia, Hypophosphatemia, Generalized osteoporosis, Chondrocalcinosis ORPHA:99879
Opitz Gbbb Syndrome
Bifid scrotum, Enlarged ovaries, Short stature, Hypospadias, Cryptorchidism, Bicornuate uterus, S... ORPHA:2745
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone le... ORPHA:99429
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... ORPHA:64739
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Enlarged polycystic ovaries, Abnormal circulating leptin concentration, Insulin... ORPHA:2298
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se... ORPHA:206484
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... ORPHA:2232
Sting-Associated Vasculopathy, Infantile-Onset
Failure to thrive, Elevated circulating C-reactive protein concentration, Joint stiffness, Leukop... OMIM:615934
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Anemia OMIM:175500
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Gracile Bone Dysplasia
Asplenia, Decreased skull ossification, Hypocalcemia, Hypoplastic spleen, Failure to thrive OMIM:602361
Hypophosphatasia
Failure to thrive in infancy, Hypercalcemia, Recurrent fractures, Craniosynostosis, Anemia ORPHA:436
Leprechaunism
Hepatomegaly, Enlarged ovaries, Overgrowth of external genitalia, Postnatal growth retardation, L... ORPHA:508
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis OMIM:122860
Ring Chromosome 10 Syndrome
Hypocalcemia, Cachexia ORPHA:1438
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... ORPHA:1916
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis OMIM:125440
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Hypercalcemia, Anemia ORPHA:2123
Bardet-Biedl Syndrome
Hypoplasia of penis, Short stature, Cryptorchidism, Hypoplasia of the ovary, Hypogonadism ORPHA:110
Schnitzler Syndrome
Increased bone mineral density, Splenomegaly, Leukocytosis, Arthritis, Anemia ORPHA:37748
Rudiger Syndrome
Ovarian cyst, Micropenis, Bicornuate uterus OMIM:268650
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis, Osteopetrosis, H... OMIM:618476
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemic seizures, Hypocalcemia, Patchy osteosclerosis, Hyperphosphatemia OMIM:241410
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis OMIM:607634
Potocki-Lupski Syndrome
Failure to thrive, Small for gestational age, Hypocholesterolemia OMIM:610883
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Hypercalcemia, Hyperphosphatemia, Calvarial osteosclerosis, Metacarpal periosteal thi... OMIM:617994
Primary Intestinal Lymphangiectasia
Weight loss, Reduced proportion of CD4+ effector memory T cells, Hypoalbuminemia, Hypocalcemia, H... ORPHA:90362
Hypotonia-Cystinuria Syndrome
Failure to thrive, Hypocalcemia OMIM:606407
Oculoskeletodental Syndrome
Hypercalcemia, Enamel hypoplasia, Hypocalcemia ORPHA:557003
Familial Isolated Hypoparathyroidism
Abnormal dental enamel morphology, Hypocalcemia ORPHA:2238
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Anemia, Osteopetrosis, Failure to thrive, Thrombocytopenia OMIM:615085
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Hypoproteinemia, Anemia OMIM:226300
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures OMIM:166740
Hypercalcemia, Infantile, 2
Failure to thrive, Hypercalcemia, Hypophosphatemia OMIM:616963
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Immunodeficiency 92
Osteomyelitis, Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytop... OMIM:619652
Rhabdoid Tumor
Thrombocytopenia, Hypercalcemia, Anemia, Weight loss ORPHA:69077
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp... ORPHA:94093
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Spermatogenic Failure 14
Male infertility, Abnormal prolactin level, Azoospermia, Abnormal circulating testosterone concen... OMIM:615842
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... OMIM:166600
Distal Deletion 10P
Hypoplasia of penis, Short stature, Cryptorchidism, Polycystic ovaries, Intrauterine growth retar... ORPHA:1580
Peutz-Jeghers Syndrome
Enlarged polycystic ovaries, Cervix cancer, Pancreatic adenocarcinoma ORPHA:2869
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fractures, Mandibular osteom... OMIM:259710
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia OMIM:615863
Oculoskeletodental Syndrome
Small for gestational age, Hypercalcemia, Splenomegaly, Elbow flexion contracture, Hypocalcemia OMIM:618440
Fowler Urethral Sphincter Dysfunction Syndrome
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea ORPHA:2795
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased bone mineral density, Recurrent fractures, Macular scar, Ankylosis, Hydroxy... OMIM:239000
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Hypergonadotropic hypogonadism, Short stature, Insulin-resistant diabetes mellitus, Secondary ame... OMIM:268020
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Majeed Syndrome
Increased bone mineral density, Osteomyelitis, Cachexia, Congenital hypoplastic anemia, Splenomeg... ORPHA:77297
Oncogenic Osteomalacia
Fibrous dysplasia of the bones, Increased susceptibility to fractures, Hypocalcemia, Hypophosphat... ORPHA:352540
Bacterial Toxic-Shock Syndrome
Fasciitis, Osteomyelitis, Elevated circulating creatine kinase concentration, Elevated circulatin... ORPHA:36234
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Sanjad-Sakati Syndrome
Abnormal dental enamel morphology, Hyperphosphatemia, Hypocalcemia, Patchy osteosclerosis ORPHA:2323
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Small for gestational age, Elevated circulating creatine kinase concentration, Increased circulat... ORPHA:26793
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
Tetragametic Chimerism
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:199310
Colchicine Poisoning
Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo... ORPHA:31824
Pseudohypoparathyroidism Type 1C
Calcinosis, Increased bone mineral density, Obesity, Hyperphosphatemia, Hypocalcemia, Hypocalcemi... ORPHA:79444
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Hypercalcemia, Craniosynostosis OMIM:614732
Estrogen Resistance
Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Primary ame... OMIM:615363
Pseudohypoparathyroidism Type 1A
Calcinosis, Increased bone mineral density, Obesity, Reduced bone mineral density, Hyperostosis f... ORPHA:79443
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Ataxia-Telangiectasia
Diabetes mellitus, Short stature, Polycystic ovaries, Type II diabetes mellitus, Delayed puberty,... ORPHA:100
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature thelarche, Ambiguous genitalia, female, Premature... ORPHA:90795
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy, Premature ovarian insufficiency, Short stature, Female infertility OMIM:619518
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Hyperinsulinemia, Polycystic ovaries ORPHA:79084
Beta-Ketothiolase Deficiency
Leukocytosis, Hyperammonemia, Weight loss, Hyperuricemia, Thrombocytosis ORPHA:134
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Female infertility, Goiter OMIM:617577
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Osteomyelitis, Failure to thrive in infancy, Cachexia, Autoimmune th... ORPHA:37042
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Omphalocele, Autoimmune hemolytic ane... OMIM:243150
Pseudohypoparathyroidism, Type Ia
Osteoporosis, Obesity, Subcutaneous ossification, Hyperphosphatemia, Hypocalcemic tetany, Enamel ... OMIM:103580
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... ORPHA:2975
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Elevated circulating C-reactive protein concentration, Weight loss, Arthritis, Iron deficiency an... OMIM:301074
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Acanthocytosis, Abnorma... ORPHA:96180
Endosteal Hyperostosis, Autosomal Dominant
Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o... OMIM:144750
Osteogenesis Imperfecta, Type Xiii
Increased bone mineral density, Recurrent fractures, Dentinogenesis imperfecta, Osteoporosis, Red... OMIM:614856
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia OMIM:618183
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia, Fractures of the long bones, Osteolysis, Increased susceptibility to fractures, Sc... OMIM:602080
Preeclampsia
Type I diabetes mellitus, Intrauterine growth retardation, Polycystic ovaries ORPHA:275555
Ovarian Fibrothecoma
Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Abnormal circulating hormone conc... ORPHA:314478
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... OMIM:308750
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia ORPHA:99845
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mel... ORPHA:79085
Infantile Myofibromatosis
Hypercalcemia, Bone cyst, Limitation of joint mobility, Osteolysis, Chondrocalcinosis ORPHA:2591
Hemochromatosis, Type 1
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Azoos... OMIM:235200
Lipodystrophy, Partial, Acquired, Susceptibility To
Diabetes mellitus, Polycystic ovaries OMIM:608709
3-Hydroxy-3-Methylglutaric Aciduria
Leukocytosis, Hyperammonemia, Weight loss, Leukopenia, Hyperuricemia, Thrombocytosis, Anemia ORPHA:20
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Sitosterolemia 1
Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro... OMIM:210250
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ... OMIM:615688
Gaucher Disease Type 1
Osteopenia, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocytopenia, Osteoa... ORPHA:77259
Blue Diaper Syndrome
Increased body weight, Hyperphosphatemia, Hypercalcemia ORPHA:94086
Timothy Syndrome
Hypocalcemia OMIM:601005
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia, Craniosynostosis, Increased susceptibility to fract... OMIM:241500
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Streak ovary, Hypoplasia of the fallopian tube, Decre... ORPHA:3464
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypercalcemia, Osteomalacia, Hypermagnesemia, Multiple lipomas, Hypophosphatemia, Chondrocalcinosis OMIM:600740
Trichohepatoenteric Syndrome 1
Small for gestational age, Increased mean platelet volume, Splenomegaly, Increased serum iron, Hy... OMIM:222470
Hypercalcemia, Infantile, 1
Failure to thrive, Hypercalcemia, Weight loss OMIM:143880
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Failure to thrive, Hypercalcemia OMIM:239199
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Joint laxity, Pancytopenia, Inguinal hernia, Small for gestational age, Rickets, Redu... OMIM:613658
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Umbilical hernia, Short stature, Polycystic ovaries ORPHA:284180
Tangier Disease
Hypertriglyceridemia, Hepatosplenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia ORPHA:31150
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... OMIM:110100
Autoerythrocyte Sensitization Syndrome
Impaired platelet adhesion, Autoimmune thrombocytopenia, Abnormal erythrocyte morphology, Thrombo... ORPHA:324636
Abetalipoproteinemia
Osteopenia, Decreased HDL cholesterol concentration, Reticulocytosis, Failure to thrive, Acanthoc... ORPHA:14
Autosomal Dominant Hypocalcemia
Hypomagnesemia, Hyperphosphatemia, Hypocalcemia, Reduced bone mineral density ORPHA:428
Beemer-Ertbruggen Syndrome
Increased bone mineral density, Thrombocytopenia ORPHA:1237
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries ORPHA:2228
Bone Marrow Failure Syndrome 5
Growth delay, Hypogonadism, Short stature, Testicular atrophy OMIM:618165
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Osteopenia, Hyponatremia, Calcinosis, Splenomegaly, Hypokalemia, Hypocalcemia OMIM:617913
Thymic Neuroendocrine Tumor
Osteopenia, Increased circulating cortisol level, Hypercalcemia, Weight loss ORPHA:97289
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Classic Galactosemia
Male infertility, Hepatomegaly, Decreased serum insulin-like growth factor 1, Premature ovarian i... ORPHA:79239
Alg12-Cdg
Hyponatremia, Thrombocytopenia, Hypoalbuminemia, B lymphocytopenia, Abnormal adipose tissue morph... ORPHA:79324
Congenital Disorder Of Glycosylation, Type Ig
Failure to thrive, Small for gestational age, Hypocalcemia OMIM:607143
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m... ORPHA:90650
Hypocalciuric Hypercalcemia, Familial, Type Ii
Multiple lipomas, Hypermagnesemia, Hypercalcemia, Chondrocalcinosis OMIM:145981
Interstitial Lung And Liver Disease
Anemia, Thrombocytosis, Failure to thrive, Hyperammonemia OMIM:615486
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Splenomegaly, Inguinal hernia, Hypoproteinemia, Hypocalcemia OMIM:235255
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Abnormality of thrombocytes, Splenomegaly, Leukocytosis, Hepatosple... OMIM:612840
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Primary amenorrhea, Pol... OMIM:604367
Chondrodysplasia, Blomstrand Type
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification OMIM:215045
Diastrophic Dysplasia
Joint hyperflexibility, Increased bone mineral density, Camptodactyly of finger, Joint stiffness ORPHA:628
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Brucellosis
Osteomyelitis, Thrombocytosis, Small for gestational age, Elevated circulating C-reactive protein... ORPHA:1304
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Late-Onset Isolated Acth Deficiency
Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Macrocytic anemia, Failure... ORPHA:199299
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Recurrent fractures, Elevated circulating creatine kinase concentration, Thrombocyt... ORPHA:2785
Syndromic Diarrhea
Inguinal hernia, Small for gestational age, Increased mean platelet volume, Splenomegaly, Hypopla... ORPHA:84064
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste... ORPHA:289176
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Camurati-Engelmann Disease
Reduced subcutaneous adipose tissue, Increased bone mineral density, Diaphyseal sclerosis, Cortic... OMIM:131300
Pearson Syndrome
Reticulocytosis, Pancytopenia, Small for gestational age, Hypomagnesemia, Thrombocytopenia, Splen... ORPHA:699
Spondyloepiphyseal Dysplasia Tarda
Increased bone mineral density, Osteoarthritis of the distal interphalangeal joint, Abnormally os... ORPHA:93284
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Recurrent fractures, Craniosynostosis, Abnormal dental enamel morphology, Obesity,... ORPHA:251004
Autosomal Recessive Malignant Osteopetrosis
Recurrent fractures, Craniosynostosis, Splenomegaly, Reduced bone mineral density, Osteopetrosis,... ORPHA:667
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mel... ORPHA:435651
Cholera
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration ORPHA:173
Müllerian Aplasia And Hyperandrogenism
Short stature, Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosterone level, ... ORPHA:247768
Donohue Syndrome
Postnatal growth retardation, Precocious puberty, Long penis, Hyperinsulinemia, Ovarian cyst, Pan... OMIM:246200
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hypercalcemia, Recurrent fractures, Splenomegaly, Hypophosphatemia, Failure to thrive... OMIM:239200
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati... ORPHA:572333
Familial Thrombocytosis
Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Thrombocytosis ORPHA:71493
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemic tetany, Hyperaldosteronism, Hypocalcemia, Hypomagnesemia ORPHA:73224
Polyendocrine-Polyneuropathy Syndrome
Short stature, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Postnatal growth ret... OMIM:616113
Double Outlet Right Ventricle
Failure to thrive, Hypocalcemia ORPHA:3426
Dysosteosclerosis
Craniofacial hyperostosis, Increased bone mineral density, Abnormal dental enamel morphology, Rec... ORPHA:1782
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Inguinal hernia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypoproteinemia ORPHA:1655
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... ORPHA:411634
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mel... ORPHA:435660
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Cowden Syndrome
Abnormal penis morphology, Endometrial carcinoma, Short stature, Follicular thyroid carcinoma, En... ORPHA:201
Diamond-Blackfan Anemia
Acute myeloid leukemia, Small for gestational age, Pure red cell aplasia, Erythroid hypoplasia, R... ORPHA:124
Cartilage-Hair Hypoplasia
Abnormally ossified vertebrae, Neutropenia, Joint hyperflexibility, Hypocalcemia, Abnormal bone o... ORPHA:175
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Delayed patellar ossification, Increased bone mineral density, Abnormal bone ossification ORPHA:163649
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Coiled sperm flagella, Short sperm flagella, Male infertility OMIM:620197
Congenital Generalized Lipodystrophy
Hepatomegaly, Overgrowth of external genitalia, Diabetes mellitus, Precocious puberty in females,... ORPHA:528
Congenital Factor Vii Deficiency
Ovarian cyst, Menorrhagia ORPHA:327
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Increased circulating ferritin concentration, Hypochromic microcytic anemia, Osteopetrosis, Throm... ORPHA:3240
Mitochondrial Trifunctional Protein Deficiency
Failure to thrive in infancy, Hypocalcemia ORPHA:746
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypercalcemia, Osteomalacia, Hypermagnesemia, Lipoma, Chondrocalcinosis, ... ORPHA:405
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Hip contracture, Hypercalcemia, Knee flexion contracture, Hypophosphatemia, Pathologi... OMIM:156400
Idiopathic Hypereosinophilic Syndrome
Myelofibrosis, Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosp... ORPHA:3260
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Postnata... ORPHA:453533
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Osteopetrosis, Decreased body weight OMIM:617306
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Diabetes mellitus, Dysmenorrhea, Maternal diabetes, Splenomegaly, Insulin-resistant... ORPHA:79083
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Sclerosis of mi... ORPHA:85188
Fibrous Dysplasia Of Bone
Thin bony cortex, Cortical irregularity, Osteomalacia, Hypercalcemia, Fibrous dysplasia of the bo... ORPHA:249
Werner Syndrome
Increased bone mineral density, Lipoatrophy, Lipodystrophy, Joint stiffness, Osteoporosis, Slende... ORPHA:902
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Left ventricular hypertrophy, Micropenis, Decreased testicular size, Ri... ORPHA:335
Glucose-Galactose Malabsorption
Failure to thrive, Hypernatremia, Hypercalcemia, Weight loss ORPHA:35710
Autosomal Dominant Kenny-Caffey Syndrome
Anemia, Cortical thickening of long bone diaphyses, Hyperphosphatemia, Hypocalcemic tetany, Decre... ORPHA:93325
Ovarian Fibroma
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary ORPHA:314473
Paget Disease Of Bone 3
Fractures of the long bones, Osteolysis, Patchy osteosclerosis OMIM:167250
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Testicular atrophy OMIM:160900
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Luscan-Lumish Syndrome
Irregular menstruation, Short stature, Polycystic ovaries OMIM:616831
Dyskeratosis Congenita, Autosomal Recessive 2
Growth delay, Testicular atrophy OMIM:613987
Isotretinoin-Like Syndrome
Inguinal hernia, Lymphopenia, Hypocalcemia ORPHA:2306
Gitelman Syndrome
Hypermagnesemia, Gout, Iron deficiency anemia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Primary... ORPHA:358
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperextensibility of the finger joints, Thrombocytopenia, Hypocalcemia, Hyperbilirubinemia, Anemia ORPHA:163979
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Hyperthyroidism, Elevated circulating growth hormone concentrati... ORPHA:562
Pycnodysostosis
Joint laxity, Increased bone mineral density, Overweight, Generalized osteosclerosis, Increased s... ORPHA:763
Tricho-Dento-Osseous Syndrome
Increased bone mineral density, Enamel hypomineralization, Dental enamel pits ORPHA:3352
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Non-Functioning Paraganglioma
Hypercalcemia, Weight loss ORPHA:94080
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration, Decreased ci... OMIM:207750
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hemolytic anemia, Leukocytosis, Hyperkalemia, Hypocalcemia, Septic arthritis, Throm... ORPHA:544482
Vitamin D-Dependent Rickets, Type 2A
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcem... OMIM:277440
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Hypot... ORPHA:465508
Multiple Myeloma
Osteopenia, Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Weight lo... ORPHA:29073
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... OMIM:105650
Leopard Syndrome 1
Short stature, Hypospadias, Cryptorchidism, Micropenis, Hypoplasia of the ovary, Aplasia of the o... OMIM:151100
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Diabetes mellitus, Dysmenorrhea, Splenomegaly, Secondary amenorrhea, Polycystic ova... ORPHA:2348
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Umbilical hernia, Gonadal dysgenesis, Short stature, Polycystic ovaries ORPHA:1770
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Bartter Syndrome, Type 1, Antenatal
Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Small for gestatio... OMIM:601678
Aarskog-Scott Syndrome
Short stature, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorc... OMIM:305400
X-Linked Hypophosphatemia
Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rick... ORPHA:89936
Testicular Agenesis
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... ORPHA:325124
Cowden Syndrome 6
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Va... OMIM:615109
Cowden Syndrome 5
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Go... OMIM:615108
Velocardiofacial Syndrome
Umbilical hernia, Inguinal hernia, Hypocalcemia OMIM:192430
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Desmosterolosis
Failure to thrive, Generalized osteosclerosis, Abnormal circulating cholesterol concentration, Ar... OMIM:602398
Uremic Pruritus
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Short stature, Dysmenorrhea, Postnatal growth retardation, Splenomegaly, Irregular ... ORPHA:79240
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Thin bony cortex ORPHA:85184
Osteopathia Striata-Cranial Sclerosis Syndrome
Facial hyperostosis, Increased bone mineral density, Osteopetrosis, Coarse metaphyseal trabecular... ORPHA:2780
Wolfram Syndrome 1
Diabetes mellitus, Diabetes insipidus, Growth delay, Hypothyroidism, Testicular atrophy OMIM:222300
22Q11.2 Deletion Syndrome
Inguinal hernia, Abnormality of thrombocytes, Abnormal dental enamel morphology, Splenomegaly, Ob... ORPHA:567
Hennekam Syndrome
Camptodactyly of finger, Craniosynostosis, Splenomegaly, Hypocalcemia, Lymphopenia ORPHA:2136
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Cranioectodermal Dysplasia 1
Joint laxity, Inguinal hernia, Sagittal craniosynostosis, Osteoporosis, Hypocalcemia, Enamel hypo... OMIM:218330
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Cogan Syndrome
Thrombocytosis, Leukocytosis, Anemia ORPHA:1467
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Gaucher Disease
Osteopenia, Increased bone mineral density, Osteomyelitis, Pancytopenia, Recurrent fractures, Ele... ORPHA:355
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia ORPHA:31826
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os... OMIM:112250
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Thrombocytosis, Leukocytosis, Failure to thrive, Hypochromic anemia OMIM:618213
Familial Adenomatous Polyposis 4
Ovarian cyst, Uterine leiomyoma, Thyroid adenoma OMIM:617100
Liver Disease, Severe Congenital
Joint laxity, Hyponatremia, Inguinal hernia, Elevated circulating alpha-fetoprotein concentration... OMIM:619991
Cowden Syndrome 1
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Thyroid adenoma,... OMIM:158350
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm OMIM:614874
Secondary Intestinal Lymphangiectasia
Lymphopenia, Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia,... ORPHA:90363
Trichothiodystrophy
Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Absenc... ORPHA:33364
Addison Disease
Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Failure to thrive, Hyperca... ORPHA:85138
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... OMIM:610475
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
Acute Adrenal Insufficiency
Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Hypercalcemia, Hyperkalemi... ORPHA:95409
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia... ORPHA:466650
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Erdheim-Chester Disease
Increased bone mineral density, Osteomyelitis, Osteolysis, Weight loss, Xanthelasma, Anemia ORPHA:35687
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Short stature, Hypoplasia of the ovary, Intrauterine growth retardation, Micropenis, Decreased te... OMIM:619321
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Ciliary Dyskinesia, Primary, 9
Male infertility, Absent outer dynein arms OMIM:612444
Proteus Syndrome
Thymus hyperplasia, Testicular neoplasm, Enlarged polycystic ovaries, Splenomegaly, Neoplasm of t... ORPHA:744
Desmosterolosis
Splenomegaly, Increased bone mineral density, Failure to thrive, Osteopetrosis ORPHA:35107
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Increased susceptibility to fractures, Sc... OMIM:224300
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Ost... OMIM:259730
Schwartz-Jampel Syndrome
Hip contracture, Increased bone mineral density, Abnormally ossified vertebrae, Inguinal hernia, ... ORPHA:800
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Kaufman Oculocerebrofacial Syndrome
Failure to thrive, Hypocholesterolemia OMIM:244450
Ciliary Dyskinesia, Primary, 14
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... OMIM:613807
Dysostosis, Stanescu Type
Massively thickened long bone cortices, Increased bone mineral density, Abnormal dental enamel mo... ORPHA:1798
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Short stature, Dysmenorrhea, Splenomegaly, Irregular menstruation, Polycystic ovari... ORPHA:264580
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility ORPHA:244
Dubowitz Syndrome
Acute lymphoblastic leukemia, Inguinal hernia, Aplastic anemia, Hypocholesterolemia OMIM:223370
Gaucher Disease Type 3
Increased bone mineral density, Pancytopenia, Splenomegaly, Osteolysis, Increased susceptibility ... ORPHA:77261
Raine Syndrome
Increased bone mineral density, Subperiosteal bone formation, Hypophosphatemia, Arthrogryposis mu... OMIM:259775
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... OMIM:615812
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Splenomegaly, Hypocalcemic seizures, Osteopetrosis, Anemia OMIM:612301
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Osteopenia, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Obesity, Joint hypermobility ORPHA:369837
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, T lymphocytopenia, Coombs-positive ... ORPHA:83471
Atypical Werner Syndrome
Sclerosis of hand bone, Increased bone mineral density, Hypertriglyceridemia, Lipoatrophy, Limita... ORPHA:79474
Genitourinary And/Or Brain Malformation Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Gonadal dysgenesis, Urogenital sinus... OMIM:618820
Otopalatodigital Syndrome Type 2
Omphalocele, Increased bone mineral density, Failure to thrive, Camptodactyly of finger, Tarsal s... ORPHA:90652
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
Lenz-Majewski Hyperostotic Dwarfism
Increased bone mineral density, Inguinal hernia, Femoral hernia, Abnormal dental enamel morpholog... ORPHA:2658
Carney Complex
Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Abnormal sperm motility, O... ORPHA:1359
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... OMIM:157640
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Hypocalcemic seizures ORPHA:2237
Short Syndrome
Birth length less than 3rd percentile, Intrauterine growth retardation, Insulin-resistant diabete... OMIM:269880
12Q14 Microdeletion Syndrome
Abnormality of the spleen, Osteopoikilosis, Failure to thrive ORPHA:94063
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Joint laxity, Hip contracture, Hyperextensibility of the finger joints, Hemolytic anemia, Reduced... OMIM:619503
Parathyroid Carcinoma
Hypercalcemia, Osteoporosis, Weight loss, Hypophosphatemia, Lipoma, Chondrocalcinosis ORPHA:143
Multiple Endocrine Neoplasia, Type I
Increased circulating cortisol level, Hypercalcemia, Subcutaneous lipoma OMIM:131100
Cystic Echinococcosis
Hepatomegaly, Abnormality of the testis size, Ovarian cyst ORPHA:400
Somatostatinoma
Hypercalcemia, Hypochromic microcytic anemia, Weight loss, Increased circulating cortisol level, ... ORPHA:97283
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Splenomegaly, Osteopetrosis OMIM:618541
Vipoma
Hypercalcemia, Weight loss, Hypokalemia, Increased circulating cortisol level, Normochromic anemi... ORPHA:97282
Digeorge Syndrome
Inguinal hernia, Femoral hernia, Splenomegaly, Obesity, Anemia, Hypoplasia of the thymus, Hypocal... OMIM:188400
Glucagonoma
Hypercalcemia, Acanthocytosis, Weight loss, Increased circulating cortisol level, Normochromic an... ORPHA:97280
Hyperoxaluria, Primary, Type I
Pathologic fracture, Increased bone mineral density, Hyperoxaluria OMIM:259900
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Ovarian cyst, Precocious puberty with Sertoli cell tumor, Uterine neoplasm OMIM:175200
Monosomy 13Q34
Hypercalcemia, Obesity ORPHA:96168
Alg9-Cdg
Hepatomegaly, Rhizomelia, Bicornuate uterus, Hypoplasia of the ovary, Hypoplastic nipples, Enlarg... ORPHA:79328
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia, Weight loss ORPHA:276621
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Decreased serum leptin, Decreased fertility in females, Splenomegaly, Labial hypert... OMIM:269700
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Diabetes mellitus, Decreased serum leptin, Decreased fertility in females, Splenome... OMIM:608594
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Osteoporosis, Hypophosphatemia, Lipoma, Chondrocalcinosis ORPHA:99880
Infantile Systemic Hyalinosis
Severe short stature, Polycystic ovaries, Growth delay, Abnormality of the adrenal glands, Aplasi... ORPHA:2176
Ciliary Dyskinesia, Primary, 19
Male infertility, Absent inner and outer dynein arms OMIM:614935
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Osteomyelitis, Leukocytosis, Abnormality of neutrophil physiology, Impair... ORPHA:2968
Zollinger-Ellison Syndrome
Hypercalcemia, Weight loss, Multiple lipomas, Increased circulating cortisol level, Lipoma ORPHA:913
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Hepatomegaly, Primary testicular failure, Oligozoospermia, Hepatosplenomegaly, ... ORPHA:85450
Turner Syndrome Due To Structural X Chromosome Anomalies
Premature ovarian insufficiency, Short stature, Female infertility, Hashimoto thyroiditis, Postna... ORPHA:99413
Turner Syndrome
Premature ovarian insufficiency, Short stature, Female infertility, Hashimoto thyroiditis, Postna... ORPHA:881
Mosaic Monosomy X
Premature ovarian insufficiency, Short stature, Female infertility, Hashimoto thyroiditis, Postna... ORPHA:99228
Monosomy X
Premature ovarian insufficiency, Short stature, Female infertility, Hashimoto thyroiditis, Postna... ORPHA:99226
Ppoma
Increased circulating cortisol level, Hypercalcemia, Subcutaneous lipoma, Weight loss ORPHA:97278
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Failure to thrive, Hypercalcemia ORPHA:476126
Lesch-Nyhan Syndrome
Short stature, Testicular atrophy OMIM:300322
Smith-Lemli-Opitz Syndrome
Splenomegaly, Epiphyseal stippling, Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol co... OMIM:270400
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Diabetes mellitus, Dysmenorrhea, Decreased adiponectin level, Decreased serum lepti... ORPHA:280365
Pycnodysostosis
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand OMIM:265800
Hemihyperplasia-Multiple Lipomatosis Syndrome
Hydrocele testis, Ovarian serous cystadenoma, Enlarged kidney ORPHA:276280
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Ovarian cyst ORPHA:454840
Doors Syndrome
Thrombocytosis, Sagittal craniosynostosis ORPHA:79500
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Type I diabetes mellitus, Nodular goiter, Premature thelarche, Polycystic ovaries ORPHA:371428
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Joint laxity, Umbilical hernia, Hypocalcemia OMIM:620330
Fanconi Anemia, Complementation Group A
Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism, Short stature OMIM:227650
Hypoplasminogenemia
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology ORPHA:722
Proteus-Like Syndrome
Splenomegaly, Abnormality of the parathyroid gland, Thymus hyperplasia, Polycystic ovaries ORPHA:2969
Primary Hyperoxaluria
Generalized osteosclerosis, Failure to thrive, Hyperoxaluria, Recurrent fractures ORPHA:416
Grfoma
Increased circulating cortisol level, Hypercalcemia, Subcutaneous lipoma, Weight loss ORPHA:97261
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia, Weight loss ORPHA:29072
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni... OMIM:201750
Chromosome 17Q12 Deletion Syndrome
Short stature, Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicor... OMIM:614527
Hyperparathyroidism, Transient Neonatal
Umbilical hernia, Hyperparathyroidism, Enlarged kidney, Ovarian cyst OMIM:618188
Multiple Endocrine Neoplasia Type 1
Hypercalcemia, Osteolysis, Increased susceptibility to fractures, Reduced bone mineral density, M... ORPHA:652
Pheochromocytoma
Hypercalcemia OMIM:171300
Bardet-Biedl Syndrome 1
Decreased testicular size, Diabetes mellitus, Nephrogenic diabetes insipidus, Hypogonadism, Vagin... OMIM:209900
Cleidocranial Dysplasia 1
Increased bone mineral density, Delayed pubic bone ossification, Enamel hypoplasia, Increased sus... OMIM:119600
Williams Syndrome
Osteopenia, Joint laxity, Increased bone mineral density, Abnormal circulating lipid concentratio... ORPHA:904
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Acquired Generalized Lipodystrophy
Hepatomegaly, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Polycystic ovaries ORPHA:79086
Blomstrand Lethal Chondrodysplasia
Increased bone mineral density, Synostosis of joints ORPHA:50945
Johanson-Blizzard Syndrome
Joint laxity, Small for gestational age, Increased VLDL cholesterol concentration, Conjugated hyp... OMIM:243800
Bloom Syndrome
Male infertility, Premature ovarian insufficiency, Diabetes mellitus, Oligozoospermia, Growth del... ORPHA:125
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Short stature, Irregular menstruation, Thyroiditis, Polycystic ovaries, Growth dela... ORPHA:79259
Charge Syndrome
Omphalocele, Umbilical hernia, Lymphopenia, Hypocalcemia OMIM:214800
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Hypercalcemia, Subcutaneous lipoma ORPHA:276152
X-Linked Intellectual Disability, Snyder Type
Short stature, Hypospadias, Cryptorchidism, Abnormality of the Leydig cells, Testicular atrophy ORPHA:3063
Schinzel-Giedion Syndrome
Streak ovary, Hypospadias, Micropenis, Central hypothyroidism, Neural tube defect, Umbilical hern... ORPHA:798
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Labial pseudohypertrophy, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Po... OMIM:151660
Sarcoidosis
Hemolytic anemia, Hypercalcemia, Eosinophilia, Scarring, Thrombocytopenia, Increased T cell count... ORPHA:797
Multiple Endocrine Neoplasia Type 2
Joint laxity, Reduced subcutaneous adipose tissue, Hypercalcemia ORPHA:653
Steinert Myotonic Dystrophy
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... ORPHA:273
Ciliary Dyskinesia, Primary, 1
Male infertility, Absent outer dynein arms OMIM:244400
Orofaciodigital Syndrome I
Pancreatic cysts, Ovarian cyst, Myelomeningocele, Short stature OMIM:311200
Sclerosteosis 1
Facial palsy secondary to cranial hyperostosis, Cortically dense long tubular bones, Sclerotic sc... OMIM:269500
Williams-Beuren Syndrome
Osteopenia, Joint laxity, Inguinal hernia, Failure to thrive in infancy, Hypercalcemia, Flexion c... OMIM:194050
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Splenopancreatic fusion, Sclerosis of skull base, Failure to thr... OMIM:269150
Histiocytoid Cardiomyopathy
Hepatomegaly, Polycystic ovaries, Cardiomegaly ORPHA:137675
Noonan Syndrome 1
Male infertility, Short stature, Hypospadias, Postnatal growth retardation, Cryptorchidism, Hypog... OMIM:163950
Cystinosis, Nephropathic
Male infertility, Hepatomegaly, Diabetes mellitus, Short stature, Splenomegaly, Growth delay, Pri... OMIM:219800
Sotos Syndrome
Joint laxity, Hip contracture, Inguinal hernia, Hypercalcemia, Ankle flexion contracture, Cranios... ORPHA:821
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
Cystic Fibrosis
Male infertility, Hepatomegaly, Hepatosplenomegaly OMIM:219700

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 Tial1

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 Tial1.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
The RNA binding proteins TIA1 and TIAL1 promote Mcl1 mRNA translation to protect germinal center responses from apoptosis. Cellular & molecular immunology (July 2023) Tial1tm1c(EUCOMM)Wtsi 37474714
In vivo PAR-CLIP (viP-CLIP) of liver TIAL1 unveils targets regulating cholesterol synthesis and secretion. Nature communications (June 2023) Tial1tm1a(EUCOMM)Wtsi PMC10256721
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Tial1tm1b(EUCOMM)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Tial1tm1b(EUCOMM)Wtsi Tial1tm1b(EUCOMM)Wtsi PMC6671969

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
Tial1tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Tial1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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