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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 triglyceride level Tial1tm1b(EUCOMM)Wtsi HET   Early adult 2.15×10-05
decreased circulating cholesterol level Tial1tm1b(EUCOMM)Wtsi HET Early adult 8.44×10-09
decreased circulating HDL cholesterol level Tial1tm1b(EUCOMM)Wtsi HET Early adult 9.18×10-08
decreased total body fat amount Tial1tm1b(EUCOMM)Wtsi HET Early adult 1.53×10-06
increased lean body mass Tial1tm1b(EUCOMM)Wtsi HET Early adult 2.35×10-06
increased bone mineral density Tial1tm1b(EUCOMM)Wtsi HET Early adult 3.55×10-06
thrombocytosis Tial1tm1b(EUCOMM)Wtsi HET Early adult 1.67×10-05
decreased circulating calcium level Tial1tm1b(EUCOMM)Wtsi HET Early adult 6.26×10-05

Download data as:  TSV  XLS

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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
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, Abnormal ... ORPHA:488191
Partial Chromosome Y Deletion
Decreased testicular size, Cryptorchidism, Non-obstructive azoospermia, Male infertility, Abnorma... ORPHA:1646
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein A-I concentration, ... OMIM:620058
Ring Chromosome Y Syndrome
Perineal hypospadias, Cryptorchidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, m... ORPHA:261529
Spermatogenic Failure 25
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Non-obstruc... OMIM:617960
Spermatogenic Failure 57
Non-obstructive azoospermia, Decreased testicular size, Spermatogenesis maturation arrest, Male i... OMIM:619528
Isochromosomy Yp
Decreased testicular size, Ambiguous genitalia, Primary gonadal insufficiency, Azoospermia, Male ... ORPHA:98797
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Lipodystrophy, Generalized lipodystrophy, Splenomegaly, Hypertriglyceridemia,... OMIM:612526
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:618341
Polycystic Ovary Syndrome 1
Oligomenorrhea, Enlarged polycystic ovaries, Amenorrhea OMIM:184700
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 63
Reduced progressive sperm motility, Decreased testicular size, Oligospermia, Male infertility OMIM:619689
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Spermatogenic Failure 20
Coiled sperm flagella, Absent sperm flagella, Male infertility, Short sperm flagella OMIM:617593
Spermatogenic Failure 50
Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male infertility OMIM:619145
Spermatogenic Failure 72
Reduced progressive sperm motility, Absent sperm axoneme central pair complex, Short sperm flagel... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:618153
Spermatogenic Failure 30
Spermatogenesis maturation arrest, Cryptorchidism, Cryptozoospermia, Azoospermia, Male infertility OMIM:618110
Spermatogenic Failure 37
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:617576
Spermatogenic Failure 33
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:618152
Spermatogenic Failure 46
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:617965
Isochromosomy Yq
Decreased testicular size, Ambiguous genitalia, Primary gonadal insufficiency, Varicocele, Azoosp... ORPHA:98798
Spermatogenic Failure 65
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... OMIM:619712
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Coiled sperm flagella, Absent sperm flagella, Male inf... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... OMIM:617592
Spermatogenic Failure 49
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... OMIM:619094
Spermatogenic Failure 56
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... OMIM:619515
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Hepatosplenomegaly, Knee flexion contracture, Sterile arthritis, Microcytic anemia, Arthritis, Pa... OMIM:604416
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 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Immunodeficiency 69
Hepatosplenomegaly, Leukocytosis, Anemia, Failure to thrive, Pancytopenia, Thrombocytosis, Increa... OMIM:618963
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Irregularly... OMIM:301059
Intermediate Osteopetrosis
Hepatosplenomegaly, Generalized osteosclerosis, Osteosclerosis of the base of the skull, Abnormal... ORPHA:210110
46,Xx Testicular Difference Of Sex Development
Polycystic ovaries, Male hypogonadism, Decreased testicular size, Ambiguous genitalia ORPHA:393
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Reduced sperm motility, Male infertility, Androgen insufficiency, Oligospe... ORPHA:529970
Ovarian Dysgenesis 2
Delayed puberty, Premature ovarian insufficiency, Primary amenorrhea, Hypoplasia of the uterus, H... OMIM:300510
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertil... OMIM:618664
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... OMIM:620222
Spermatogenic Failure 76
Short sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Oli... OMIM:620084
Spermatogenic Failure 54
Cryptozoospermia, Oligospermia, Short sperm flagella, Coiled sperm flagella, Abnormal sperm axone... OMIM:619379
Progressive Familial Intrahepatic Cholestasis
Reduced bone mineral density, Failure to thrive, Hypocalcemia, Splenomegaly, Abnormality of throm... ORPHA:172
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia, T lymphocytopenia DECIPHER:16
Premature Ovarian Failure 2B
Delayed puberty, Premature ovarian insufficiency, Female infertility, Primary amenorrhea OMIM:300604
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Short sperm flagella, Irregularly shaped sper... OMIM:619585
Premature Ovarian Failure 5
Premature ovarian insufficiency, Hypoplasia of the ovary, Primary amenorrhea, Reduced antral foll... OMIM:611548
Spermatogenic Failure 39
Oligospermia, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertilit... OMIM:618643
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Male infertility, Oligospermia OMIM:619102
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Osteopenia, Hypersplenism, Thrombocytopenia, Hypocholesterolemia, Splenomegaly OMIM:610539
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
Familial Hyperprolactinemia
Oligomenorrhea, Infertility, Female hypogonadism, Menorrhagia, Amenorrhea, Hemorrhagic ovarian cyst ORPHA:397685
Spermatogenic Failure 42
Microcephalic sperm head, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Mal... OMIM:618745
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 78
Microcephalic sperm head, Male infertility, Tapered sperm head OMIM:620170
Spermatogenic Failure 79
Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligospermia OMIM:620196
Hyperprolactinemia
Oligomenorrhea, Female infertility, Increased circulating prolactin concentration, Menorrhagia OMIM:615555
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Spermatogenic Failure 11
Abnormal sperm morphology, Oligospermia, Reduced sperm motility, Male infertility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Oligospermia, Reduced sperm motility, Male infertility OMIM:614822
Spermatogenic Failure 48
Azoospermia, Spermatogenesis maturation arrest, Oligospermia, Male infertility OMIM:619108
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea OMIM:619245
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Functioning Gonadotropic Adenoma
Delayed puberty, Isosexual precocious puberty, Abnormality of the menstrual cycle, Adrenocorticot... ORPHA:91348
Spermatogenic Failure 41
Immotile sperm, Short sperm flagella, Male infertility, Tapered sperm head, Oligospermia OMIM:618670
Persistent Mullerian Duct Syndrome, Types I And Ii
Decreased cirrculating antimullerian hormone circulation, Bilateral cryptorchidism, Male infertility OMIM:261550
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligospermia OMIM:612997
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Premature Ovarian Failure 6
Premature ovarian insufficiency, Primary amenorrhea, Elevated circulating follicle stimulating ho... OMIM:612310
Buschke-Ollendorff Syndrome
Flexion contracture, Connective tissue nevi, Osteopoikilosis, Joint stiffness OMIM:166700
Spermatogenic Failure 22
Non-obstructive azoospermia, Male infertility, Cryptozoospermia OMIM:617706
Ovarian Dysgenesis 10
Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the ovary, Primary amenorrhea, El... OMIM:619834
Spermatogenic Failure, X-Linked, 2
Azoospermia, Spermatogenesis maturation arrest, Testicular atrophy, Male infertility OMIM:309120
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure 5
Macrocephalic sperm head, Multiflagellar spermatozoa, Male infertility OMIM:243060
Premature Ovarian Failure 10
Premature ovarian insufficiency, Decreased testicular size, Hypoplasia of the ovary, Primary amen... OMIM:612885
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligospermia OMIM:619828
Sickle Cell Anemia
Leukocytosis, Reticulocytosis, Hemolytic anemia, Hypochromic anemia, Osteoporosis, Persistence of... ORPHA:232
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Ovarian Dysgenesis 9
Delayed puberty, Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone ci... OMIM:619665
Deafness-Infertility Syndrome
Abnormal sperm head morphology, Abnormal sperm tail morphology, Male infertility, Abnormal sperma... OMIM:611102
Perrault Syndrome 6
Premature ovarian insufficiency, Primary amenorrhea, Hypoplasia of the uterus, Irregular menstrua... OMIM:617565
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Oligospermia, Male infertility OMIM:619696
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Delayed puberty, Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Hyp... ORPHA:90796
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Steatorrhea, Failure to thrive, Hypotriglyceridemia, Hyp... OMIM:246700
Myopathy, Tubular Aggregate, 2
Ankle flexion contracture, Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Spermatogenic Failure 16
Acephalic spermatozoa, Reduced sperm motility, Male infertility OMIM:617187
Spermatogenic Failure 44
Acephalic spermatozoa, Reduced sperm motility, Male infertility OMIM:619044
Spermatogenic Failure 21
Acephalic spermatozoa, Reduced sperm motility, Male infertility OMIM:617644
Spermatogenic Failure 17
Male infertility OMIM:617214
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Delayed puberty, Hypoplasia of the ovary, Cryptorchidism, Decreased testicular size, Micropenis, ... OMIM:614841
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Rickets, Increased bone mineral density, Hypophosphatemia, Hypophosphatemic ric... OMIM:241520
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Melorheostosis With Osteopoikilosis
Multiple lipomas, Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia, Osteopenia OMIM:619073
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
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 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, Decreased cirrculating antimullerian hormone circulation, Hypopl... OMIM:619203
Xp22.3 Microdeletion Syndrome
Polycystic ovaries, Short stature, Decreased fertility, Secondary amenorrhea, Hypogonadotropic hy... ORPHA:1643
Thrombocythemia 1
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thr... OMIM:187950
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Anemia, Neutropenia, Eosinophilia, Thrombocytosis, Monocytosis, Congeni... OMIM:202700
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Reticulocytosis, Hemolytic anemia, Increased mean corpuscular hemoglobin con... OMIM:616689
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Clavicular sclerosis, Failure to thrive OMIM:615198
Premature Ovarian Failure 13
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Hypoplasia of the uterus... OMIM:617442
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Anemia, Salmonella osteomyelitis, Histiocytosis, Thrombocytosis... OMIM:209950
Perrault Syndrome 3
Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Short stature, Hypop... OMIM:614129
Thrombocythemia 2
Thrombocytosis OMIM:601977
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Primary amenorrhea, Gonadal dysgenesis with female appearance, male, Gonadoblastoma, Hypoplasia o... ORPHA:168563
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Hypersegmentation of neutrophil nuclei, Lymphopenia, Macrocytic anemia, Ane... OMIM:617780
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Thrombocythemia 3
Thrombocytosis OMIM:614521
Osteopetrosis, Autosomal Recessive 1
Craniosynostosis, Increased bone mineral density, Pathologic fracture, Anemia, Calvarial osteoscl... OMIM:259700
Premature Ovarian Failure 8
Premature ovarian insufficiency, Primary amenorrhea, Elevated circulating follicle stimulating ho... OMIM:615723
Ovarian Dysgenesis 3
Delayed puberty, Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Fem... OMIM:614324
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Premature Ovarian Failure 9
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating follicle stimulati... OMIM:615724
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Acquired Idiopathic Sideroblastic Anemia
Hyposegmentation of neutrophil nuclei, Leukocytosis, Normocytic anemia, Hypochromic anemia, Neutr... ORPHA:75564
Aromatase Deficiency
Cryptorchidism, Primary amenorrhea, Hypergonadotropic hypogonadism, Female infertility, Type II d... ORPHA:91
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Enlarged kidney, Polycystic ovaries, Enlarged ... ORPHA:90301
Dentin Dysplasia
Increased bone mineral density, Abnormal dental enamel morphology ORPHA:1653
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Isolated Osteopoikilosis
Sclerosis of foot bone, Increased bone mineral density, Sclerotic foci in hand bones, Joint stiff... ORPHA:166119
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility ORPHA:276183
Hypogonadism, Male
Male hypogonadism, Testicular atrophy, Micropenis, Hypospadias OMIM:241100
Albers-Schönberg Osteopetrosis
Generalized osteosclerosis, Anemia, Osteoarthritis, Arthritis, Hypocalcemia, Osteomyelitis, Recur... ORPHA:53
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Cryptorchidism, Micropenis, Primary amenorrhea, Decreased serum estradio... OMIM:618841
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Pathologic fracture, Anemia, Hyperkalemia, Osteopetrosis, Cortica... OMIM:620366
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification OMIM:602475
Spermatogenic Failure 3
Reduced sperm motility, Male infertility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Reduced sperm motility, Male infertility OMIM:400042
Spermatogenic Failure 55
Reduced sperm motility, Male infertility OMIM:619380
Melorheostosis
Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Failure to thrive, Ecto... ORPHA:2485
Autosomal Recessive Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Hypocalcemic seizures, Calvarial osteosclerosis, Hypo... ORPHA:93324
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Polycythemia Vera
Leukocytosis, Increased red blood cell mass, Splenomegaly, Thrombocytopenia, Increased hematocrit... OMIM:263300
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Refractory Celiac Disease
Hypoproteinemia, Increased proportion of HLA DR+ T cells, Hypophosphatemia, Normocytic anemia, Os... ORPHA:398063
Spinocerebellar Ataxia 32
Infertility, Azoospermia, Testicular atrophy OMIM:613909
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Hypophosphatemia, Osteomalacia, Hypocalcemia, Iron deficiency anemia ORPHA:89937
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Isolated Follicle Stimulating Hormone Deficiency
Oligomenorrhea, Delayed puberty, Abnormal sperm morphology, Decreased testicular size, Testicular... ORPHA:52901
Hypocalcemic Vitamin D-Resistant Rickets
Osteolysis, Hypophosphatemia, Abnormal adipose tissue morphology, Osteomalacia, Coarse metaphysea... ORPHA:93160
Renal Tubular Acidosis, Distal, 1
Pathologic fracture, Hypokalemia, Osteomalacia, Hypocalcemia, Elevated circulating creatinine con... OMIM:179800
Juvenile Arthritis
Leukocytosis, Thrombocytosis OMIM:618795
Asplenia, Isolated Congenital
Howell-Jolly bodies, Asplenia, Thrombocytosis OMIM:271400
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis ORPHA:242
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Spermatogenic Failure 38
Abnormal sperm head morphology, Abnormal axonemal organization of respiratory motile cilia, Oligo... OMIM:618433
46,Xx Gonadal Dysgenesis
Delayed puberty, Premature ovarian insufficiency, Primary amenorrhea, Ambiguous genitalia, Short ... ORPHA:243
Adamantinoma
Pathologic fracture, Hypercalcemia ORPHA:55881
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... OMIM:616834
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Anisocytosis, Leukopenia, Abnormal erythrocyte morphology, Macrocytic anemia, Abnormality of neut... ORPHA:86841
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Primary amenorrhea, Ambiguous genitalia, Elevated circulating follicle stimulati... ORPHA:251510
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Oligomenorrhea, Delayed puberty, Abnormality of the Leydig cells, Micropenis, Elevated circulatin... OMIM:228300
Alpha-Heavy Chain Disease
Splenomegaly, Hypocalcemia, Anemia ORPHA:100025
Spermatogenic Failure 77
Cryptorchidism, Abnormal circulating luteinizing hormone concentration, Elevated circulating foll... OMIM:620103
Hypobetalipoproteinemia, Familial, 1
Decreased LDL cholesterol concentration, Steatorrhea, Acanthocytosis, Hypertriglyceridemia, Decre... OMIM:615558
Asherman Syndrome
Oligomenorrhea, Dysmenorrhea, Decreased fertility in females, Metrorrhagia, Infertility, Abnormal... ORPHA:137686
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia, Obesity OMIM:603233
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating gamma-aminobutyric acid concentration, Hypocalcemia, Splenomegaly OMIM:619658
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:2239
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Hypoplasia of the ovary, Cryptorchidism, Decreased testicular size, Micropenis, ... ORPHA:432
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Decreased testicular size, Hypogonadism ORPHA:1875
Estrogen Resistance Syndrome
Primary amenorrhea, Breast hypoplasia, Hypoplasia of the uterus, Hyperinsulinemia, Abnormality of... ORPHA:785
Pseudopseudohypoparathyroidism
Ectopic ossification, Hyperphosphatemia, Hypocalcemia, Obesity ORPHA:79445
46,Xx Ovotesticular Difference Of Sex Development
Cryptorchidism, Abnormal morphology of female internal genitalia, Ambiguous genitalia, Polycystic... ORPHA:2138
Hepatic Adenomas, Familial
Polycystic ovaries, Maturity-onset diabetes of the young OMIM:142330
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Long penis, Macroorchidism, Oligospermia, Precocious puberty ORPHA:3000
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Hypophosphatemia, Failure to thrive, Delayed epiphyseal ossification, Sparse bone trabec... OMIM:600081
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Flynn-Aird Syndrome
Joint stiffness, Increased bone mineral density, Osteoporosis, Increased bone density with cystic... OMIM:136300
Perrault Syndrome 4
Oligomenorrhea, Premature ovarian insufficiency, Hypoplasia of the ovary, Primary amenorrhea, Hyp... OMIM:615300
X-Linked Agammaglobulinemia
Anemia, Arthritis, Failure to thrive, Thrombocytopenia, Hypocalcemia, Cellulitis, Osteomyelitis, ... ORPHA:47
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Non-obstructive azoospermia, Azoospermia,... OMIM:108420
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Polycystic ovaries, Precocious puberty, Hypergonadotropic hypogonadism ORPHA:2229
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Failure to thrive in infancy, Hypercholesterolemia OMIM:232700
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Delayed puberty, Hypoplasia of the ovary, Primary amenorrhea, Breast hypoplasia, Short stature, D... ORPHA:2235
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Abnormal circulating luteinizing hormone concentration, Non-ob... OMIM:616950
Cholesterol-Ester Transfer Protein Deficiency
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hypotriglyceridemia, Hyperlipidemi... ORPHA:79506
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Hypocalcemia, Hypokalemia, Hypomagnesemia OMIM:620152
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Androgen Insensitivity Syndrome
Delayed puberty, Aplasia/Hypoplasia of the fallopian tube, Cryptorchidism, Abnormal morphology of... ORPHA:754
2P21 Microdeletion Syndrome
Hypocalcemia, Failure to thrive ORPHA:163693
Peroxisome Biogenesis Disorder 3B
Elevated circulating phytanic acid concentration, Steatorrhea, Osteoporosis, Failure to thrive, H... OMIM:266510
Autoimmune Hypoparathyroidism
Increased bone mineral density, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypocalce... ORPHA:36913
Kennedy Disease
Decreased fertility, Erectile dysfunction, Type II diabetes mellitus, Testicular atrophy ORPHA:481
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:146200
Rabson-Mendenhall Syndrome
Increased serum testosterone level, Increased pineal volume, Severe postnatal growth retardation,... ORPHA:769
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Osteopetrosis, Autosomal Recessive 4
Increased bone mineral density, Reticulocytosis, Anemia, Thrombocytopenia, Osteopetrosis, Recurre... OMIM:611490
Kenny-Caffey Syndrome, Type 1
Anemia, Calvarial osteosclerosis, Hypocalcemia, Decreased skull ossification, Hypomagnesemia OMIM:244460
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Generalized osteosclerosis, Abnormal cortical bo... ORPHA:2790
Satoyoshi Syndrome
Hypoplasia of the ovary, Abnormality of the ovary, Nephrogenic diabetes insipidus, Short stature,... ORPHA:3130
Bile Acid Synthesis Defect, Congenital, 1
Rickets, Steatorrhea, Conjugated hyperbilirubinemia, Failure to thrive, Hypocholesterolemia, Sple... OMIM:607765
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Thickened cortex of bones, Joint stiffness, Arthritis ORPHA:564003
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Rickets, Hypophosphatemia, Hypocalcemic seizures, Enamel hypoplasia, Failure to thrive, Delayed e... OMIM:264700
Obesity Due To Congenital Leptin Deficiency
Hypoplasia of the ovary, Decreased testicular size, Primary amenorrhea, Hyperinsulinemia, Hypergo... ORPHA:66628
Celiac Disease, Susceptibility To, 1
Rickets, Steatorrhea, Osteoporosis, Enamel hypoplasia, Macrocytic anemia, Failure to thrive, Hypo... OMIM:212750
Spermatogenic Failure 28
Decreased testicular size, Elevated circulating follicle stimulating hormone level, Non-obstructi... OMIM:618086
Immunodeficiency 14B, Autosomal Recessive
Leukocytosis, B lymphocytopenia, Thrombocytosis, Neutrophilia, Monocytosis OMIM:619281
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Cryptorchidism, Gonadoblastoma, Streak ovary, Abnormality of the uterus, Abnormal vagina morpholo... OMIM:194072
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Abn... ORPHA:521
Testicular Regression Syndrome
Decreased testicular size, Absent testis, Abnormal morphology of female internal genitalia, Ambig... ORPHA:983
Pseudohypoparathyroidism, Type Ic
Osteoporosis, Hyperphosphatemia, Enamel hypoplasia, Hypocalcemia, Hypocalcemic tetany, Obesity OMIM:612462
Mueller-Weiss Syndrome
Knee osteoarthritis, Sclerosis of foot bone, Joint stiffness, Arthritis, Limitation of movement a... ORPHA:566943
Pseudohypoparathyroidism Type 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Calcinosis ORPHA:94090
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Hyperparathyroidism 4
Osteopenia, Hypercalcemia OMIM:617343
Frasier Syndrome
Primary amenorrhea, Gonadoblastoma, Ambiguous genitalia, male, Gonadal dysgenesis with female app... ORPHA:347
Ghosal Hematodiaphyseal Dysplasia
Increased bone mineral density, Leukopenia, Refractory anemia, Thrombocytopenia, Hyperostosis cra... OMIM:231095
Obesity Due To Leptin Receptor Gene Deficiency
Hypoplasia of the ovary, Decreased testicular size, Primary amenorrhea, Hyperinsulinemia, Hypergo... ORPHA:179494
Van Buchem Disease
Increased bone mineral density, Thickened cortex of long bones, Cranial hyperostosis OMIM:239100
46,Xy Sex Reversal 7
Dysgerminoma, Primary amenorrhea, Gonadoblastoma, Hypoplasia of the fallopian tube, Hypoplasia of... OMIM:233420
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Hypocalcemic Vitamin D-Dependent Rickets
Rickets, Hypophosphatemia, Hypocalcemic seizures, Enamel hypoplasia, Osteomalacia, Failure to thr... ORPHA:289157
Premature Ovarian Failure 20
Elevated circulating luteinizing hormone level, Female infertility, Secondary amenorrhea, Elevate... OMIM:619938
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Plin1-Related Familial Partial Lipodystrophy
Oligomenorrhea, Polycystic ovaries, Hyperinsulinemia, Infertility, Abnormal circulating hormone c... ORPHA:280356
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Bone cyst, Hypercalcemia, Anemia ORPHA:2668
Heme Oxygenase 1 Deficiency
Asplenia, Hemolytic anemia, Elevated circulating C-reactive protein concentration, Thrombocytosis... OMIM:614034
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Decreased testicular size, Cryptorchidism, Polycystic ovaries, Short stature, Hyperinsulinemia, H... ORPHA:3085
Sclerosteosis
Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density ORPHA:3152
Hypocalcemia, Autosomal Dominant 1
Increased circulating renin level, Hyperphosphatemia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:601198
Spermatogenic Failure 6
Globozoospermia, Decreased acrosin in sperm head, Male infertility OMIM:102530
Pseudohypoparathyroidism Type 1B
Diaphyseal sclerosis, Increased bone mineral density, Hypocalcemic seizures, Hyperphosphatemia, E... ORPHA:94089
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Lipodyst... OMIM:616000
Primary Myelofibrosis
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Cachexia, Thrombocytopeni... ORPHA:824
Aromatase Deficiency
Female pseudohermaphroditism, Ovarian cyst, Primary amenorrhea, Hypergonadotropic hypogonadism OMIM:613546
Axial Osteomalacia
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration OMIM:109130
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Obesity OMIM:618406
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Inc... ORPHA:90793
Kenny-Caffey Syndrome, Type 2
Increased bone mineral density, Small for gestational age, Anemia, Transient hypophosphatemia, Hy... OMIM:127000
Squalene Synthase Deficiency
Decreased LDL cholesterol concentration, Failure to thrive in infancy, Knee flexion contracture, ... OMIM:618156
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly ORPHA:2204
Poems Syndrome
Sclerosis of foot bone, Lipodystrophy, Sclerosis of hand bone, Polycythemia, Sclerosis of skull b... ORPHA:2905
Chylomicron Retention Disease
Steatorrhea, Acanthocytosis, Failure to thrive, Hypertriglyceridemia, Hypocholesterolemia ORPHA:71
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
Osteopetrosis, Autosomal Recessive 5
Hepatosplenomegaly, Increased bone mineral density, Leukocytosis, Extramedullary hematopoiesis, A... OMIM:259720
Congenital Disorder Of Glycosylation, Type Ia
Steatorrhea, Osteopenia, Failure to thrive, Abnormal subcutaneous fat tissue distribution, Thromb... OMIM:212065
Familial Isolated Hyperparathyroidism
Generalized osteoporosis, Chondrocalcinosis, Hypophosphatemia, Osteopenia, Hypercalcemia ORPHA:99879
Partial Androgen Insensitivity Syndrome
Ambiguous genitalia, Primary amenorrhea, Fused labia majora, Bilateral cryptorchidism, Male infer... ORPHA:90797
Gonadoblastoma
Dysgerminoma, Increased serum testosterone level, Ambiguous genitalia, Gonadal dysgenesis with fe... ORPHA:206484
Ovarian Hyperstimulation Syndrome
Increased serum testosterone level, Ovarian cyst, Increased circulating gonadotropin level, Enlar... ORPHA:64739
Insulin-Resistance Syndrome Type B
Increased serum testosterone level, Abnormal salivary gland morphology, Abnormal circulating lept... ORPHA:2298
Complete Androgen Insensitivity Syndrome
Delayed puberty, Aplasia/Hypoplasia of the fallopian tube, Increased serum testosterone level, Ab... ORPHA:99429
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Delayed puberty, Cryptorchidism, Agonadism, Primary amenorrhea, Breast hypoplasia, Primary gonada... ORPHA:2232
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis OMIM:125440
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Delayed puberty, Increased size of the clitoris, Primary amenorrhea, Ambiguous genitalia, Fused l... ORPHA:95699
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Sting-Associated Vasculopathy, Infantile-Onset
Leukopenia, Joint stiffness, Anemia, Lymphopenia, Failure to thrive, Elevated circulating C-react... OMIM:615934
Gracile Bone Dysplasia
Hypoplastic spleen, Asplenia, Failure to thrive, Decreased skull ossification, Hypocalcemia OMIM:602361
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anemia, Cachexia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:175500
Opitz Gbbb Syndrome
Cryptorchidism, Shawl scrotum, Umbilical hernia, Enlarged ovaries, Short stature, Bicornuate uter... ORPHA:2745
Leprechaunism
Hyperaldosteronism, Increased circulating renin level, Enlarged kidney, Central hypothyroidism, C... ORPHA:508
Rudiger Syndrome
Ovarian cyst, Micropenis, Bicornuate uterus OMIM:268650
Hypophosphatasia
Craniosynostosis, Anemia, Failure to thrive in infancy, Recurrent fractures, Hypercalcemia ORPHA:436
Craniodiaphyseal Dysplasia, Autosomal Dominant
Cortical sclerosis, Diaphyseal sclerosis, Craniofacial osteosclerosis, Craniofacial hyperostosis OMIM:122860
Ring Chromosome 10 Syndrome
Cachexia, Hypocalcemia ORPHA:1438
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Hypercalcemia, Anemia ORPHA:2123
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:241410
Spermatogenic Failure 14
Abnormal circulating luteinizing hormone concentration, Elevated circulating follicle stimulating... OMIM:615842
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Calvarial osteosclerosis, Hyperphosphatemia, Osteopenia, Metacarpal periosteal thickening, Hyperc... OMIM:617994
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism, Micropenis, Abno... ORPHA:1916
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Diaphyseal sclerosis, Craniofacial osteosclerosis, Increased skull ossification, Osteopetrosis, H... OMIM:618476
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Anemia, Decreased proportion of CD3-positive T cells, Lymphopenia, Reduced propo... ORPHA:90362
Schnitzler Syndrome
Increased bone mineral density, Leukocytosis, Anemia, Arthritis, Splenomegaly ORPHA:37748
Bardet-Biedl Syndrome
Hypoplasia of the ovary, Cryptorchidism, Hypogonadism, Short stature, Hypoplasia of penis ORPHA:110
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones OMIM:607634
Oculoskeletodental Syndrome
Enamel hypoplasia, Hypocalcemia, Hypercalcemia ORPHA:557003
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Anemia, Thrombocytosis, Iron deficiency anemia, Hypoalbuminemia OMIM:226300
Familial Isolated Hypoparathyroidism
Hypocalcemia, Abnormal dental enamel morphology ORPHA:2238
Bangstad Syndrome
Increased circulating cortisol level, Primary gonadal insufficiency, Polycystic ovaries, Intraute... ORPHA:1227
Hypotonia-Cystinuria Syndrome
Hypocalcemia, Failure to thrive OMIM:606407
Potocki-Lupski Syndrome
Hypocholesterolemia, Small for gestational age, Failure to thrive OMIM:610883
Osteopetrosis, Autosomal Recessive 8
Anemia, Failure to thrive, Thrombocytopenia, Osteopetrosis, Splenomegaly OMIM:615085
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Cortical thickening of long bone diaphyses, Recurrent fractures OMIM:166740
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia, Failure to thrive OMIM:616963
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Oligospermia, Obstructive azoospermia, Male infertility ORPHA:48
Rhabdoid Tumor
Weight loss, Thrombocytopenia, Hypercalcemia, Anemia ORPHA:69077
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Polycystic ovaries, Short stature, Hypergonadotropic hypogonadism, Secondary amenorrhea, Insulin-... OMIM:268020
Immunodeficiency 92
Decreased proportion of class-switched memory B cells, Leukocytosis, B lymphocytopenia, Lymphocyt... OMIM:619652
Fowler Urethral Sphincter Dysfunction Syndrome
Oligomenorrhea, Abnormality of the ovary, Polycystic ovaries, Menorrhagia, Amenorrhea ORPHA:2795
Peutz-Jeghers Syndrome
Cervix cancer, Pancreatic adenocarcinoma, Enlarged polycystic ovaries ORPHA:2869
Hyperlipidemia, Familial Combined, 3
Increased LDL cholesterol concentration, Elevated circulating apolipoprotein A-II concentration, ... OMIM:144250
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Oculoskeletodental Syndrome
Small for gestational age, Hypocalcemia, Elbow flexion contracture, Splenomegaly, Hypercalcemia OMIM:618440
Osteopetrosis, Autosomal Dominant 2
Generalized osteosclerosis, Osteopetrosis, Recurrent fractures, Mandibular osteomyelitis, Fractur... OMIM:166600
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypercholesterolemia, Failure to thrive, Hypoalbuminemia OMIM:615863
Osteopetrosis, Autosomal Recessive 2
Hepatosplenomegaly, Diaphyseal sclerosis, Extramedullary hematopoiesis, Anemia, Thrombocytopenia,... OMIM:259710
Neuroleptic Malignant Syndrome
Leukocytosis, Hyperuricemia, Hyperphosphatemia, Elevated circulating creatine kinase concentratio... ORPHA:94093
Paget Disease Of Bone 5, Juvenile-Onset
Increased bone mineral density, Hyperuricemia, Hydroxyprolinemia, Osteoporosis, Hyperphosphatemia... OMIM:239000
Non Rare In Europe: Buschke-Ollendorff Syndrome
Craniosynostosis, Generalized osteosclerosis, Joint stiffness, Hyperostosis, Arthritis, Connectiv... ORPHA:1306
Oncogenic Osteomalacia
Hypophosphatemia, Pathologic fracture, Increased susceptibility to fractures, Hypocalcemia, Fibro... ORPHA:352540
Majeed Syndrome
Increased bone mineral density, Leukocytosis, Cachexia, Failure to thrive, Increased susceptibili... ORPHA:77297
Bacterial Toxic-Shock Syndrome
Increased circulating myelocyte count, Elevated circulating creatine kinase concentration, Arthri... ORPHA:36234
45,X/46,Xy Mixed Gonadal Dysgenesis
Delayed puberty, Ambiguous genitalia, Abnormal internal genitalia, Streak ovary, Bilateral crypto... ORPHA:1772
Sanjad-Sakati Syndrome
Patchy osteosclerosis, Hyperphosphatemia, Hypocalcemia, Abnormal dental enamel morphology ORPHA:2323
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Small for gestational age, Hyperammonemia, Overweight, Elevated circulating crea... ORPHA:26793
Estrogen Resistance
Delayed puberty, Increased circulating osteocalcin level, Primary amenorrhea, Polycystic ovaries,... OMIM:615363
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Female infertility, Premature ovarian insufficiency, Short stature, Mitochondrial hypertrophy OMIM:619518
Ciliary Dyskinesia, Primary, 37
Female infertility, Goiter, Hypothyroidism OMIM:617577
Colchicine Poisoning
Abnormal blood ion concentration, Hypophosphatemia, Leukocytosis, Hypokalemia, Hypocalcemia, Hypo... ORPHA:31824
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Craniosynostosis, Hypercalcemia OMIM:614732
Spermatogenic Failure, X-Linked, 4
Elevated circulating follicle stimulating hormone level, Abnormal prolactin level, Azoospermia, M... OMIM:301077
Pseudohypoparathyroidism Type 1C
Increased bone mineral density, Ectopic ossification, Hypocalcemic seizures, Hyperphosphatemia, E... ORPHA:79444
Familial Partial Lipodystrophy, Köbberling Type
Diabetes mellitus, Polycystic ovaries, Hepatomegaly, Hyperinsulinemia ORPHA:79084
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Testicular atrophy, Micropenis, Decreased circulating ... OMIM:308700
Pseudohypoparathyroidism Type 1A
Hyperostosis frontalis interna, Increased bone mineral density, Reduced bone mineral density, Abn... ORPHA:79443
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Ambiguous genitalia, Isosexual precocious pu... ORPHA:90795
Beta-Ketothiolase Deficiency
Leukocytosis, Hyperammonemia, Hyperuricemia, Thrombocytosis, Weight loss ORPHA:134
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Increased size of the clitoris, Primary amenorrhea, Abnormality of the ovary,... ORPHA:2975
Pseudohypoparathyroidism, Type Ia
Osteoporosis, Hyperphosphatemia, Enamel hypoplasia, Subcutaneous ossification, Hypocalcemic tetan... OMIM:103580
Hepatocellular Carcinoma
Polycythemia, Anemia, Hypokalemia, Hyperbilirubinemia, Weight loss, Thrombocytopenia, Thrombocyto... ORPHA:88673
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemagglutinin, Leukocytosi... OMIM:243150
Distal Deletion 10P
Cryptorchidism, Polycystic ovaries, Intrauterine growth retardation, Short stature, Hypoplasia of... ORPHA:1580
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Neutropenia in presence of anti-neutropil antibodies, Abnormal blood ion concentration, Autoimmun... ORPHA:37042
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Azoospermia, Male infertility OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Absent vas deferens, Azoospermia, Male infertility OMIM:277180
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypoalbuminemia OMIM:618183
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Reduced natural killer cell count, Arthritis, Lymphocytos... OMIM:301074
Endosteal Hyperostosis, Autosomal Dominant
Metatarsal diaphyseal endosteal sclerosis, Hyperostosis, Clavicular sclerosis, Thickened cortex o... OMIM:144750
Ovarian Fibrothecoma
Increased serum testosterone level, Abnormal endometrium morphology, Abnormality of the ovary, Go... ORPHA:314478
Maternal Uniparental Disomy Of Chromosome 4
Abnormal erythrocyte morphology, Decreased LDL cholesterol concentration, Abetalipoproteinemia, A... ORPHA:96180
Preeclampsia
Polycystic ovaries, Intrauterine growth retardation, Type I diabetes mellitus ORPHA:275555
Hemochromatosis, Type 1
Testicular atrophy, Diabetes mellitus, Hepatomegaly, Splenomegaly, Azoospermia, Impotence, Hypogo... OMIM:235200
Osteogenesis Imperfecta, Type Xiii
Increased bone mineral density, Reduced bone mineral density, Decreased body weight, Umbilical he... OMIM:614856
Lipodystrophy, Partial, Acquired, Susceptibility To
Diabetes mellitus, Polycystic ovaries OMIM:608709
Paget Disease Of Bone 2, Early-Onset
Osteolysis, Osteosclerosis of the ulna, Increased susceptibility to fractures, Sclerosis of skull... OMIM:602080
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase ORPHA:99845
Infantile Myofibromatosis
Chondrocalcinosis, Osteolysis, Bone cyst, Limitation of joint mobility, Hypercalcemia ORPHA:2591
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Testicular atrophy, Micropenis, Decreased circulating follicle stimulating hormon... OMIM:308750
3-Hydroxy-3-Methylglutaric Aciduria
Leukocytosis, Leukopenia, Hyperammonemia, Hyperuricemia, Anemia, Thrombocytosis, Weight loss ORPHA:20
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatosplenomegaly, Leukocytosis, Leukopenia, Anemia, Lymphopenia, Arthritis, Elevated circulatin... OMIM:615688
Tetragametic Chimerism
Perineal hypospadias, Cryptorchidism, Micropenis, Ambiguous genitalia, Gonadal dysgenesis with fe... ORPHA:199310
Hypophosphatasia, Infantile
Craniosynostosis, Hypercalcemia, Anemia, Failure to thrive, Decreased calvarial ossification, Inc... OMIM:241500
Sitosterolemia 1
Episodic hemolytic anemia, Reduced haptoglobin level, Elevated circulating sitosterol concentrati... OMIM:210250
Timothy Syndrome
Hypocalcemia OMIM:601005
Woodhouse-Sakati Syndrome
Delayed puberty, Premature ovarian insufficiency, Decreased testicular size, Micropenis, Hypogona... ORPHA:3464
Gaucher Disease Type 1
Increased bone mineral density, Osteolysis, Leukopenia, Pathologic fracture, Anemia, Osteoarthrit... ORPHA:77259
Ataxia-Telangiectasia
Delayed puberty, Aplasia/Hypoplasia of the thymus, Diabetes mellitus, Polycystic ovaries, Short s... ORPHA:100
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia, Increased body weight ORPHA:94086
Akt2-Related Familial Partial Lipodystrophy
Oligomenorrhea, Polycystic ovaries, Hepatomegaly, Decreased serum leptin, Decreased adiponectin l... ORPHA:79085
Hypocalciuric Hypercalcemia, Familial, Type Iii
Chondrocalcinosis, Hypophosphatemia, Hypermagnesemia, Osteomalacia, Multiple lipomas, Hypercalcemia OMIM:600740
Hypercalcemia, Infantile, 1
Weight loss, Hypercalcemia, Failure to thrive OMIM:143880
Trichohepatoenteric Syndrome 1
Small for gestational age, Hypermethioninemia, Failure to thrive, Increased serum iron, Increased... OMIM:222470
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia, Failure to thrive OMIM:239199
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries ORPHA:2228
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Hypoplasia of the uterus, Irregular menstruation, Female inferti... OMIM:110100
Rajab Interstitial Lung Disease With Brain Calcifications 1
Rickets, Small for gestational age, Inguinal hernia, Slender build, Reduced bone mineral density,... OMIM:613658
Tangier Disease
Hepatosplenomegaly, Anemia, Hypertriglyceridemia, Thrombocytopenia, Hypocholesterolemia ORPHA:31150
Bone Marrow Failure Syndrome 5
Testicular atrophy, Short stature, Hypogonadism, Growth delay OMIM:618165
Abetalipoproteinemia
Reticulocytosis, Anemia, Steatorrhea, Decreased LDL cholesterol concentration, Acanthocytosis, Fa... ORPHA:14
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Thymic Neuroendocrine Tumor
Osteopenia, Increased circulating cortisol level, Hypercalcemia, Weight loss ORPHA:97289
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hypokalemia, Osteopenia, Splenomegaly, Hypocalcemia, Hyponatremia, Calcinosis OMIM:617913
Beemer-Ertbruggen Syndrome
Increased bone mineral density, Thrombocytopenia ORPHA:1237
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Congenital Disorder Of Glycosylation, Type Ig
Small for gestational age, Hypocalcemia, Failure to thrive OMIM:607143
Alg12-Cdg
Camptodactyly, Abnormal adipose tissue morphology, Failure to thrive, Thrombocytopenia, B lymphoc... ORPHA:79324
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Synostosis of carpal bones, Limitation of joint mobility, Abnorma... ORPHA:90650
Hypocalciuric Hypercalcemia, Familial, Type Ii
Chondrocalcinosis, Multiple lipomas, Hypermagnesemia, Hypercalcemia OMIM:145981
Autoerythrocyte Sensitization Syndrome
Abnormal erythrocyte morphology, Autoimmune thrombocytopenia, Joint hemorrhage, Thrombocytosis, I... ORPHA:324636
Classic Galactosemia
Oligomenorrhea, Delayed puberty, Premature ovarian insufficiency, Decreased fertility in females,... ORPHA:79239
Lipodystrophy, Familial Partial, Type 3
Oligomenorrhea, Maternal diabetes, Primary amenorrhea, Polycystic ovaries, Hyperinsulinemia, Type... OMIM:604367
Autosomal Dominant Hypocalcemia
Reduced bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:428
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Inguinal hernia, Hypocalcemia, Splenomegaly OMIM:235255
Interstitial Lung And Liver Disease
Anemia, Hyperammonemia, Failure to thrive, Thrombocytosis OMIM:615486
Leukocyte Adhesion Deficiency, Type Iii
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Osteopetrosis, Splenomega... OMIM:612840
Chondrodysplasia, Blomstrand Type
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification OMIM:215045
Autosomal Recessive Hypophosphatemic Rickets
Craniosynostosis, Rickets of the lower limbs, Renal hypophosphatemia, Increased bone mineral dens... ORPHA:289176
Hypophosphatemic Rickets And Hyperparathyroidism
Rickets, Hypercalcemia, Hypophosphatemia, Hypophosphatemic rickets OMIM:612089
Diastrophic Dysplasia
Increased bone mineral density, Camptodactyly of finger, Joint stiffness, Joint hyperflexibility ORPHA:628
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Osteopetrosis With Renal Tubular Acidosis
Elliptocytosis, Leukopenia, Anemia, Elevated circulating creatine kinase concentration, Failure t... ORPHA:2785
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Neoplasm of the thyroid gland, Goiter, Polycystic ovaries, Abnormal calcium-phosphate regulating ... ORPHA:457059
Brucellosis
Knee osteoarthritis, Small for gestational age, Leukocytosis, Leukopenia, Anemia, Arthritis, Fail... ORPHA:1304
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Syndromic Diarrhea
Hypoplasia of the thymus, Small for gestational age, Inguinal hernia, Lymphopenia, Increased mean... ORPHA:84064
Camurati-Engelmann Disease
Diaphyseal sclerosis, Increased bone mineral density, Slender build, Anemia, Cortical thickening ... OMIM:131300
Late-Onset Isolated Acth Deficiency
Hypercalcemia, Hyperuricemia, Normocytic anemia, Macrocytic anemia, Hyperkalemia, Eosinophilia, F... ORPHA:199299
Müllerian Aplasia And Hyperandrogenism
Increased serum testosterone level, Primary amenorrhea, Abnormality of the ovary, Hypoplasia of t... ORPHA:247768
Pearson Syndrome
Small for gestational age, Hypophosphatemia, Reticulocytosis, Hypoplastic spleen, Anemia, Steator... ORPHA:699
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Oligomenorrhea, Lacrimal gland aplasia, Premature ovarian insufficiency, Lacrimal gland hypoplasi... ORPHA:572333
Autosomal Recessive Malignant Osteopetrosis
Craniosynostosis, Reduced bone mineral density, Hypophosphatemia, Anemia, Osteopetrosis, Hypocalc... ORPHA:667
Donohue Syndrome
Clitoral hypertrophy, Pancreatic islet-cell hyperplasia, Intrauterine growth retardation, Hyperin... OMIM:246200
Cholera
Abnormal blood ion concentration, Hyponatremia, Hypocalcemia, Hypokalemia ORPHA:173
Spondyloepiphyseal Dysplasia Tarda
Knee osteoarthritis, Increased bone mineral density, Stiff knee, Abnormal epiphyseal ossification... ORPHA:93284
47,Xyy Syndrome
Increased serum testosterone level, Cryptorchidism, Micropenis, Varicocele, Azoospermia, Increase... ORPHA:8
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Craniosynostosis, Increased blood urea nitrogen, Recurrent fractures, ... ORPHA:251004
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Coiled sperm flagella, Male infertility, Short sperm flagella OMIM:620197
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Hypophosphatemia, Anemia, Failure to thrive, Recurrent fractures, Splenomegaly, Ca... OMIM:239200
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Anterior pituitary hypoplasia, Central hypothyroidism, Short stature, ... OMIM:616113
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemic tetany, Hyperaldosteronism, Hypocalcemia, Hypomagnesemia ORPHA:73224
Double Outlet Right Ventricle
Hypocalcemia, Failure to thrive ORPHA:3426
Familial Thrombocytosis
Acute myeloid leukemia, Chronic myelogenous leukemia, Thrombocytosis, Splenomegaly, Weight loss ORPHA:71493
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatosplenomegaly, Hypoproteinemia, Inguinal hernia, Hypocalcemia, Splenomegaly ORPHA:1655
Dysosteosclerosis
Craniofacial hyperostosis, Increased bone mineral density, Abnormal dental enamel morphology, Coa... ORPHA:1782
Cowden Syndrome
Neoplasm of the thyroid gland, Goiter, Adenoma sebaceum, Abnormality of the thyroid gland, Short ... ORPHA:201
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypouricemia, Hypokalemia, Hyponatremia, Failure to thrive, Hypocalcemia, Hypoc... ORPHA:411634
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Cidec-Related Familial Partial Lipodystrophy
Oligomenorrhea, Polycystic ovaries, Hepatomegaly, Decreased serum leptin, Decreased adiponectin l... ORPHA:435651
Cartilage-Hair Hypoplasia
Limited elbow extension, Anemia, Failure to thrive, Hypocalcemia, Joint hyperflexibility, Abnorma... ORPHA:175
Congenital Factor Vii Deficiency
Ovarian cyst, Menorrhagia ORPHA:327
Xp22.13P22.2 Duplication Syndrome
Umbilical hernia, Polycystic ovaries, Macroorchidism, Short stature ORPHA:284180
Congenital Generalized Lipodystrophy
Oligomenorrhea, Diabetes mellitus, Polycystic ovaries, Clitoral hypertrophy, Precocious puberty i... ORPHA:528
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Increased bone mineral density, Abnormal bone ossification, Delayed patellar ossification ORPHA:163649
Lipe-Related Familial Partial Lipodystrophy
Oligomenorrhea, Polycystic ovaries, Hepatomegaly, Decreased serum leptin, Abnormal labia majora m... ORPHA:435660
Diamond-Blackfan Anemia
Small for gestational age, Leukopenia, Pure red cell aplasia, Persistence of hemoglobin F, Neutro... ORPHA:124
Mitochondrial Trifunctional Protein Deficiency
Failure to thrive in infancy, Hypocalcemia ORPHA:746
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Chondrocalcinosis, Hypocalcemic seizures, Hypermagnesemia, Osteomalacia, ... ORPHA:405
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Pathologic fracture, Knee flexion contracture, Osteopenia, Hip contracture, Hyp... OMIM:156400
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Increased circulating ferritin concentration, Osteopetrosis, Thrombocytopenia, Hypochromic microc... ORPHA:3240
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Anterior pituitary hypoplasia, Central hypothyroidism, Decreased circu... ORPHA:453533
Idiopathic Hypereosinophilic Syndrome
Hepatosplenomegaly, Myeloproliferative disorder, Leukocytosis, Anemia, Arthritis, Eosinophilia, F... ORPHA:3260
Pparg-Related Familial Partial Lipodystrophy
Oligomenorrhea, Dysmenorrhea, Maternal diabetes, Primary amenorrhea, Diabetes mellitus, Polycysti... ORPHA:79083
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Osteopetrosis, Decreased body weight OMIM:617306
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Fibrous Dysplasia Of Bone
Rickets, Patchy reduction of bone mineral density, Osteolysis, Hypophosphatemia, Fibrous dysplasi... ORPHA:249
Metaphyseal Dysplasia, Braun-Tinschert Type
Increased bone mineral density, Osteopenia, Coarse metaphyseal trabecularization, Sclerosis of pr... ORPHA:85188
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Ovarian Fibroma
Abnormality of the ovary, Gonadal calcification, Ovarian fibroma ORPHA:314473
Glucose-Galactose Malabsorption
Weight loss, Hypernatremia, Hypercalcemia, Failure to thrive ORPHA:35710
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Growth delay OMIM:613987
Werner Syndrome
Increased bone mineral density, Chondrocalcinosis, Lipodystrophy, Slender build, Joint stiffness,... ORPHA:902
Autosomal Dominant Kenny-Caffey Syndrome
Anemia, Cortical thickening of long bone diaphyses, Hypocalcemic seizures, Calvarial osteoscleros... ORPHA:93325
Ciliary Dyskinesia, Primary, 34
Immotile sperm, Male infertility, Absent central microtubular pair morphology of respiratory moti... OMIM:617091
Diamond-Blackfan Anemia 1
Persistence of hemoglobin F, Reticulocytopenia, Macrocytic anemia, Failure to thrive, Increased m... OMIM:105650
Paget Disease Of Bone 3
Patchy osteosclerosis, Osteolysis, Fractures of the long bones OMIM:167250
Mastocytosis
Osteoporosis, Chronic leukemia, Recurrent fractures, Acute leukemia, Mastocytosis, Splenomegaly, ... ORPHA:98292
Myotonic Dystrophy 1
Cholelithiasis, Testicular atrophy, Hypogonadism OMIM:160900
Gitelman Syndrome
Chondrocalcinosis, Gout, Hypermagnesemia, Hypokalemia, Failure to thrive, Primary hyperaldosteron... ORPHA:358
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Anemia, Hyperbilirubinemia, Thrombocytopenia, Hypocalcemia, Hyperextensibility of the finger joints ORPHA:163979
Isotretinoin-Like Syndrome
Inguinal hernia, Lymphopenia, Hypocalcemia ORPHA:2306
Vitamin D-Dependent Rickets, Type 2A
Rickets, Hypophosphatemia, Hypocalcemic seizures, Enamel hypoplasia, Failure to thrive, Delayed e... OMIM:277440
Pycnodysostosis
Hepatosplenomegaly, Generalized osteosclerosis, Coronal craniosynostosis, Increased bone mineral ... ORPHA:763
Infection-Related Hemolytic Uremic Syndrome
Leukocytosis, Hemolytic anemia, Hyperkalemia, Septic arthritis, Thrombocytopenia, Hypocalcemia, H... ORPHA:544482
Tricho-Dento-Osseous Syndrome
Increased bone mineral density, Dental enamel pits, Enamel hypomineralization ORPHA:3352
Apolipoprotein C-Ii Deficiency
Splenomegaly, Hypertriglyceridemia, Decreased circulating apolipoprotein C-II concentration, Hype... OMIM:207750
Luscan-Lumish Syndrome
Irregular menstruation, Polycystic ovaries, Short stature OMIM:616831
Symptomatic Form Of Hfe-Related Hemoch