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Gene: Plekha1 MGI:2442213

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Gene Summary

Name:
pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1
Synonyms:
C920009D07Rik,  TAPP1

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
abnormal eye morphology Plekha1tm1b(EUCOMM)Hmgu HOM Early adult 0.00
small testis Plekha1tm1b(EUCOMM)Hmgu HOM Early adult 0.00
increased circulating calcium level Plekha1tm1b(EUCOMM)Hmgu HOM   Early adult 2.21×10-05
increased mean corpuscular volume Plekha1tm1b(EUCOMM)Hmgu HOM   Early adult 5.63×10-06

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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.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Plekha1 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 Plekha1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
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
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
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... OMIM:205950
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... OMIM:616950
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation OMIM:261550
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Isochromosomy Yq
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... ORPHA:98798
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone... OMIM:616030
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Primary amenorrhea, ... OMIM:273250
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
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
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... ORPHA:529970
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
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:618841
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... OMIM:614841
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
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum testosterone concentration, Cryptorchidism, Primary amenorrhea, Decreased circula... OMIM:614897
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity OMIM:613375
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
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
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Skeletal muscle atrophy, Streak ovary, Abnormality of female external genitalia, Increased circul... ORPHA:168563
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 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Leydig Cell Hypoplasia
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... ORPHA:755
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
X-Linked Intellectual Disability, Van Esch Type
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... ORPHA:163976
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 17
Male infertility OMIM:617214
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... OMIM:206100
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Spermatogenic Failure 14
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... OMIM:615842
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome
Decreased testicular size ORPHA:436144
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
Cryptorchidism, Unilateral Or Bilateral
Cryptorchidism, Unilateral cryptorchidism OMIM:219050
Chromosome Xq27.3-Q28 Duplication Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Hypogonadism, Decreased serum testoster... OMIM:300869
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
Pituicytoma
Decreased serum testosterone concentration, Decreased female libido, Hypogonadotropic hypogonadis... ORPHA:251623
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... OMIM:619326
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... OMIM:619613
X-Linked Intellectual Disability, Cilliers Type
Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, Increased circulating gonadotropin l... ORPHA:163971
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Intrinsic Factor Deficiency
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... OMIM:261000
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
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
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... OMIM:616689
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614840
49,Xxxyy Syndrome
Decreased serum testosterone concentration, External genital hypoplasia, Abnormality of the testi... ORPHA:261534
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... OMIM:619949
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Familial Pseudohyperkalemia
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... ORPHA:90044
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Hyperparathyroidism 1
Primary hyperparathyroidism, Hypercalcemia OMIM:145000
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Ambiguous genitalia, female, Ambiguous genitalia, male, Inc... ORPHA:90791
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decrease... ORPHA:453533
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Elevated transferrin saturation, Splenomegaly, Azoo... OMIM:615234
Kennedy Disease
Skeletal muscle atrophy, Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Te... ORPHA:481
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Testicular Agenesis
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... ORPHA:325124
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Normosmic Congenital Hypogonadotropic Hypogonadism
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Female hypogonadism, N... ORPHA:432
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating luteinizing hormone leve... OMIM:614839
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Polycythemia, Anemia of inadequate producti... ORPHA:3202
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... ORPHA:399808
Adamantinoma
Hypercalcemia ORPHA:55881
Sickle Cell Anemia
Pigment gallstones, Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the sple... ORPHA:232
Bone Marrow Failure And Diabetes Mellitus Syndrome
Type I diabetes mellitus, Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphobla... OMIM:620044
Parathyroid Carcinoma
Hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia OMIM:608266
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
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
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Decreased circulating parathyroid hormone... OMIM:618883
49,Xyyyy Syndrome
External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l... ORPHA:99330
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Unilateral cry... OMIM:300946
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hyperparathyroidism, Hypercalcemia, Anemia ORPHA:2668
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Decreased muscle mass, Elevated circulating luteinizing hormone level, Primary amenorrhea, Decrea... OMIM:229070
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Increased serum iron, Increased mean corpuscular v... ORPHA:98870
Autosomal Recessive Spastic Paraplegia Type 26
Skeletal muscle atrophy, Decreased serum testosterone concentration, Premature ovarian insufficiency ORPHA:101006
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu... OMIM:278850
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... OMIM:620356
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Hyperparathyroidism 4
Primary hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia OMIM:617343
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Diamond-Blackfan Anemia 8
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612563
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Abnormal vagina morphology, Hypercalcemia, Anemia ORPHA:2123
Testicular Anomalies With Or Without Congenital Heart Disease
Corpus cavernosum hypoplasia, Abnormality of thyroid physiology, Cryptorchidism, Testicular dysge... OMIM:615542
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Calf muscle hypertrophy, Limb muscle weakness, Testicular atrophy, Decreased fertility OMIM:313200
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Decreased serum estradiol, Aplasia of the ovary, Aplasia/hypoplasia of the uterus, Small hypothen... ORPHA:2232
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... ORPHA:99429
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Dysplastic erythropoesis, Increased circulating ferritin concentration, Reticulocytopenia, Anisop... ORPHA:300298
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Spleno... OMIM:616860
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Pelvic girdle muscle atrophy, Elevated circulating luteinizing hormone level, Breast aplasia, Ele... ORPHA:3044
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Hypothy... OMIM:618849
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hyperphos... OMIM:203330
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre... OMIM:146110
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Ane Syndrome
Decreased serum insulin-like growth factor 1, Multiple joint contractures, Hypogonadotropic hypog... ORPHA:157954
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypospadias, Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Hypercalc... OMIM:614732
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se... ORPHA:206484
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, Am... ORPHA:289548
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Ambiguous genitalia, male... ORPHA:168558
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volum... OMIM:185000
Polyembryoma
Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Abnormality of the... ORPHA:180229
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Parathyroid agenesis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenit... ORPHA:2239
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased muscle mass, Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Infertil... ORPHA:465508
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Bifid scrotum, Hypoplasia of penis, Small scrotum, Abnormality of the endocrine system, Cryptorch... ORPHA:753
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea OMIM:614858
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Increased mean corpuscular ... OMIM:617021
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Adenohypophysitis
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... ORPHA:95512
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Glucocorticoid Resistance, Generalized
Irregular menstruation, Increased circulating ACTH level, Increased circulating cortisol level, I... OMIM:615962
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
Pseudovaginal Perineoscrotal Hypospadias
Bifid scrotum, Abnormality of the endocrine system, Cryptorchidism, Perineal hypospadias, Ambiguo... OMIM:264600
Panhypophysitis
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... ORPHA:95513
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... OMIM:305400
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Congenital adrenal hypoplasia, Cryptorchidism, Micropenis, Decreased circulating luteinizing horm... OMIM:202150
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia OMIM:617948
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Streak ovary, Premature ovarian insufficiency, Hypopl... ORPHA:3464
46,Xx Sex Reversal 5
Ambiguous genitalia, Aplasia of the left hemidiaphragm, Urogenital sinus anomaly, Increased serum... OMIM:618901
Rhabdoid Tumor
Thrombocytopenia, Hypercalcemia, Anemia ORPHA:69077
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Premature Ovarian Failure 17
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Decreased inhibi... OMIM:619146
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Decreased serum testosterone concentration, Hypogonadism, Decreased testicular size OMIM:201100
Blue Diaper Syndrome
Decreased circulating T4 concentration, Elevated circulating thyroid-stimulating hormone concentr... ORPHA:94086
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hyperparathyroidism, Hypercalcemia OMIM:239199
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Prematu... OMIM:241080
Premature Ovarian Failure 16
Elevated circulating follicle stimulating hormone level, Premature ovarian insufficiency, Decreas... OMIM:618723
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Decreased circulating renin level, Isosexual precocious pub... ORPHA:90795
Microphthalmia, Isolated 4
Absent testis OMIM:613094
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Hypophosphatasia
Hypercalcemia, Anemia ORPHA:436
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... OMIM:308750
Hyperparathyroidism 2 With Jaw Tumors
Hyperparathyroidism, Pancreatic adenocarcinoma, Hypercalcemia, Hurthle cell thyroid adenoma, Para... OMIM:145001
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia OMIM:613839
Spastic Paraplegia 26, Autosomal Recessive
Upper limb muscle weakness, Decreased serum testosterone concentration, Lower limb muscle weaknes... OMIM:609195
Summitt Syndrome
Obesity OMIM:272350
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age OMIM:256450
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Familial Isolated Hyperparathyroidism
Hypercalcemia, Primary hyperparathyroidism, Elevated circulating parathyroid hormone level, Hypop... ORPHA:99879
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypogonadotropic hypogonadism, Cryptorchidism, Male pseudohermaphroditism, Infertility, Ambiguous... ORPHA:752
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614837
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Majeed Syndrome
Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:609628
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Decreased serum testosterone concentration, Premature ovarian insuffici... ORPHA:2959
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Hyperthyroidism, Elevated circulating growth hormone concentrati... ORPHA:562
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:612561
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Increased circulating androstenedione concentrati... OMIM:202010
Hypercalcemia, Infantile, 1
Hypercalcemia, Decreased circulating parathyroid hormone level OMIM:143880
Hypocalciuric Hypercalcemia, Familial, Type I
Parathyroid adenoma, Hyperparathyroidism, Hypermagnesemia, Hypercalcemia OMIM:145980
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... ORPHA:361
Methylcobalamin Deficiency Type Cble
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Increased mean corpuscul... ORPHA:2169
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Increased m... OMIM:277410
Ovarian Fibrothecoma
Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Abnormal circulating hormone conc... ORPHA:314478
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age OMIM:601820
Hypoparathyroidism, Familial Isolated, 1
Hypoparathyroidism, Decreased circulating parathyroid hormone level, Hyperphosphatemia, Hypocalce... OMIM:146200
Ovarian Dysgenesis 10
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:619834
Thymic Neuroendocrine Tumor
Pituitary null cell adenoma, Pancreatic islet cell adenoma, Hypercalcemia, Neoplasm of the thymus... ORPHA:97289
Alpha-Heavy Chain Disease
Splenomegaly, Hypocalcemia, Anemia ORPHA:100025
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Abnormality of the diaphragm, Testicular atrophy, Congenital diaphragmatic hernia OMIM:601163
Hypophosphatemic Rickets And Hyperparathyroidism
Hyperparathyroidism, Hypercalcemia, Hypophosphatemic rickets, Elevated circulating parathyroid ho... OMIM:612089
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Obesity, Large for gestational age OMIM:240900
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... OMIM:201810
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Hypokal... OMIM:611590
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Hyponatremia, Decreased circulating cortisol level, Premature ovarian insuffi... ORPHA:199299
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hypercalcemia, Splenomegaly, Primary hyperparathyroidism, Elevated circulating parath... OMIM:239200
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hyperphos... OMIM:603233
Body Mass Index Quantitative Trait Locus 20
Obesity, Tall stature OMIM:618406
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of ... OMIM:610628
Beta-Thalassemia Intermedia
Hypoparathyroidism, Increased HbA2 hemoglobin, Diabetes mellitus, Extramedullary hematopoiesis, A... ORPHA:231222
Ovarian Dysgenesis 7
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:618117
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Parathyroid hyperplasia, Elevated circulating parathyroid hormone level, Hypercalcemia, Hyperphos... OMIM:617994
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Premature Ovarian Failure 8
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
Pseudohypoparathyroidism Type 2
Calcinosis, Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, Hyperphosph... ORPHA:94090
Lipodystrophy, Congenital Generalized, Type 3
Diabetes mellitus, Hypertriglyceridemia, Splenomegaly, Primary amenorrhea, Hepatosplenomegaly, Hy... OMIM:612526
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ... OMIM:620311
Ovarian Dysgenesis 4
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Primary ameno... OMIM:616185
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Congenital adrenal hyperplasia, Clitoral hypertrophy, Increased serum testoster... ORPHA:96181
Methemoglobinemia And Ambiguous Genitalia
Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ... OMIM:250790
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt... OMIM:616959
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Androgen Insensitivity, Partial
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... OMIM:312300
Hypocalciuric Hypercalcemia, Familial, Type Ii
Primary hyperparathyroidism, Hypermagnesemia, Hypercalcemia OMIM:145981
Oculoskeletodental Syndrome
Hypercalcemia, Splenomegaly, Cryptorchidism, Hypocalcemia, Hypothyroidism OMIM:618440
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Cryptorchidism, Thro... OMIM:617052
Vitamin D-Dependent Rickets, Type 3
Elevated circulating parathyroid hormone level, Hypocalcemia, Hypophosphatemia OMIM:619073
Bardet-Biedl Syndrome 10
Obesity OMIM:615987
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Hypercalcemia, Paraganglioma ORPHA:94080
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia ORPHA:557003
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ... ORPHA:398063
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Premature Ovarian Failure 14
Elevated circulating luteinizing hormone level, Decreased serum estradiol, Elevated circulating f... OMIM:618014
Addison Disease
Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasi... ORPHA:85138
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia, Anemia OMIM:241500
46,Xx Sex Reversal 4
Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am... OMIM:617480
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti... ORPHA:86839
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... ORPHA:785
Obesity And Hypopigmentation
Overgrowth, Obesity OMIM:620195
Coronary Artery Disease, Autosomal Dominant, 1
Obesity OMIM:608320
Uremic Pruritus
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
46,Xy Sex Reversal 8
Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia OMIM:614279
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Meningioma
Decreased circulating cortisol level, Neoplasm of the anterior pituitary, Reduced circulating pro... ORPHA:2495
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o... ORPHA:90794
Shwachman-Diamond Syndrome
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Diabetes mellitus, Aplastic anemia,... ORPHA:811
Ovarian Dysgenesis 5
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:617690
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Hypocalcemia, Autosomal Dominant 1
Decreased circulating parathyroid hormone level, Hypokalemia, Hyperphosphatemia, Increased circul... OMIM:601198
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Increased blood urea nitrogen, Hypercalcemia, Delayed puberty ORPHA:251004
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... OMIM:610489
2P21 Microdeletion Syndrome
Hypogonadism, Hypocalcemia ORPHA:163693
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Pheochromocytoma--Islet Cell Tumor Syndrome
Pheochromocytoma, Hypercalcemia OMIM:171420
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Progressive Familial Intrahepatic Cholestasis
Splenomegaly, Hypocalcemia ORPHA:172
Infantile Myofibromatosis
Neoplasm of the pancreas, Hypercalcemia ORPHA:2591
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Multiple Endocrine Neoplasia, Type I
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Hypercalcemia, ... OMIM:131100
Acute Adrenal Insufficiency
Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Decreased female libido, H... ORPHA:95409
Hemochromatosis, Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... OMIM:235200
16Q24.3 Microdeletion Syndrome
Cryptorchidism, Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Hypoplasia of the... OMIM:614842
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume OMIM:619774
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ... OMIM:158330
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Steinert Myotonic Dystrophy
Skeletal muscle atrophy, Decreased response to growth hormone stimulation test, Non-medullary thy... ORPHA:273
Persistent Müllerian Duct Syndrome
Cryptorchidism, Male pseudohermaphroditism ORPHA:2856
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Facial diplegia, Testicular atrophy OMIM:160900
X-Linked Intellectual Disability, Snyder Type
Decreased muscle mass, Hypospadias, Cryptorchidism, Abnormality of the Leydig cells, Camptodactyl... ORPHA:3063
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Male pseudoherm... ORPHA:90790
Hypocalciuric Hypercalcemia, Familial, Type Iii
Primary hyperparathyroidism, Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
Diamond-Blackfan Anemia 7
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612562
Ovarian Dysgenesis 8
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplastic labia majora, Dec... OMIM:618187
Diamond-Blackfan Anemia
Acute myeloid leukemia, Hypospadias, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopen... ORPHA:124
Bone Marrow Failure Syndrome 5
Pure red cell aplasia, Erythroid hypoplasia, Hypogonadism, Testicular atrophy, Anemia OMIM:618165
Adiposis Dolorosa
Obesity OMIM:103200
Dominant Beta-Thalassemia
Hypoparathyroidism, Diabetes mellitus, Extramedullary hematopoiesis, Decreased mean corpuscular h... ORPHA:231226
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thrombocytop... OMIM:127550
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Müllerian Aplasia And Hyperandrogenism
Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosterone level, Abnormal vagina... ORPHA:247768
Beta-Thalassemia Major
Hypoparathyroidism, Diabetes mellitus, Extramedullary hematopoiesis, Decreased mean corpuscular h... ORPHA:231214
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
Classic Galactosemia
Male infertility, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, ... ORPHA:79239
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Obesity ORPHA:71529
Metaphyseal Chondrodysplasia, Jansen Type
Hypoparathyroidism, Hypercalcemia, Hypophosphatemia OMIM:156400
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Hypocalcemia, Hypophosphatemia ORPHA:89937
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Cryptorchidism, Hypoplastic labia minora, Absence of labia majora, Absent scrotum, D... ORPHA:495875
Intermediate Osteopetrosis
Thrombocytopenia, Hypocalcemia, Anemia, Hepatosplenomegaly ORPHA:210110
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone... ORPHA:85327
Fibrous Dysplasia Of Bone
Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Elevated circulating growth ho... ORPHA:249
Pseudohypoparathyroidism, Type Ic
Elevated circulating thyroid-stimulating hormone concentration, Pseudohypoparathyroidism, Elevate... OMIM:612462
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Skeletal muscle atrophy, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Facial ... OMIM:157640
Lymphatic Malformation 10
Hydrocele testis OMIM:619369
Vipoma
Neoplasm of the pancreas, Diabetes mellitus, Follicular thyroid carcinoma, Elevated circulating g... ORPHA:97282
Bardet-Biedl Syndrome 22
Obesity, Large for gestational age OMIM:617119
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypercalcemia, Adrenal pheochromoc... ORPHA:276621
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Congenital hypoparathyroidism, Hypocalcemia, Hypocalcemic seizures ORPHA:93324
Robinow Syndrome
Decreased serum testosterone concentration, Small scrotum, External genital hypoplasia, Cryptorch... ORPHA:97360
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Kenny-Caffey Syndrome, Type 1
Congenital hypoparathyroidism, Hypocalcemia, Anemia, Hypomagnesemia OMIM:244460
Frasier Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Male pseudohermaphroditism, Increased circulating g... ORPHA:347
Somatostatinoma
Neoplasm of the pancreas, Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormone c... ORPHA:97283
Autoimmune Hypoparathyroidism
Autoimmune hypoparathyroidism, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic... ORPHA:36913
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia OMIM:602080
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity ORPHA:88643
Multiple Myeloma
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Hyperproteinemia, Anemia ORPHA:29073
Pseudopseudohypoparathyroidism
Abnormality of the endocrine system, Hypocalcemia, Elevated circulating parathyroid hormone level... ORPHA:79445
Glucagonoma
Neoplasm of the pancreas, Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormone c... ORPHA:97280
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Zollinger-Ellison Syndrome
Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ... ORPHA:913
Monosomy 13Q34
Metrorrhagia, Hypercalcemia ORPHA:96168
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ... OMIM:241410
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Hypercalcemia, Testicular neoplasm, Primary hyperparathyroidism, Abnor... ORPHA:99880
Hypothyroidism, Central, With Testicular Enlargement
Overweight OMIM:300888
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Hypercalcemia, Testicular neoplasm, Primary hyperparathyroidism, Abnor... ORPHA:143
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypocalcemia, Anemia, Hypomagnesemia OMIM:175500
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Hypocalcemia, Anemia ORPHA:53
Hereditary Pheochromocytoma-Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypercalcemia, Adrenal pheochromoc... ORPHA:29072
Familial Isolated Hypoparathyroidism
Hypoparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Hypo... ORPHA:2238
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm OMIM:614874
Ppoma
Neoplasm of the pancreas, Hypercalcemia, Elevated circulating growth hormone concentration, Abnor... ORPHA:97278
Hypogonadotropic Hypogonadism 27 Without Anosmia
Obesity OMIM:619755
Wolfram Syndrome 1
Hypothyroidism, Diabetes mellitus, Testicular atrophy, Diabetes insipidus OMIM:222300
Hypotonia-Cystinuria Syndrome
Hypocalcemia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test OMIM:606407
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... OMIM:105650
Pheochromocytoma
Pheochromocytoma, Hypercalcemia OMIM:171300
Carney Complex
Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Abnormal sperm motility, O... ORPHA:1359
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures ORPHA:405
Cortisone Reductase Deficiency 1
Obesity OMIM:604931
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... ORPHA:652
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Grfoma
Neoplasm of the pancreas, Hypercalcemia, Elevated circulating growth hormone concentration, Neopl... ORPHA:97261
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia ORPHA:476126
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Primary Intestinal Lymphangiectasia
Reduced proportion of CD4+ effector memory T cells, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia... ORPHA:90362
Ciliary Dyskinesia, Primary, 9
Male infertility, Absent outer dynein arms OMIM:612444
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Hypercalcemia, Hypochlor... OMIM:601678
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Precocious puberty, Hypertriglyceridemia, Hypercalcemia ORPHA:369837
X-Linked Agammaglobulinemia
Thrombocytopenia, Hypocalcemia, Anemia, Neutropenia ORPHA:47
Ciliary Dyskinesia, Primary, 14
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... OMIM:613807
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... ORPHA:64739
Coenzyme Q10 Deficiency, Primary, 2
Overweight, Obesity OMIM:614651
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Splenomegaly, Anemia, Hypocalcemia, Thrombocytopenia OMIM:259700
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean... OMIM:618278
Colchicine Poisoning
Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo... ORPHA:31824
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Cryptorchidism, Elevated circulating thyroid-stimulating horm... OMIM:618183
Multiple Endocrine Neoplasia Type 2
Paraganglioma of head and neck, Cervical neoplasm, Hypercalcemia, Thyroid C cell hyperplasia, Pri... ORPHA:653
Pseudohypoparathyroidism Type 1B
Calcinosis, Decreased response to growth hormone stimulation test, Pseudohypoparathyroidism, Elev... ORPHA:94089
Bardet-Biedl Syndrome 8
Obesity OMIM:615985
Sanjad-Sakati Syndrome
Hypoparathyroidism, Hypoplasia of penis, Cryptorchidism, Hyperphosphatemia, Hypocalcemia, Congeni... ORPHA:2323
Gracile Bone Dysplasia
Asplenia, Micropenis, Hypoplastic spleen, Hypocalcemia OMIM:602361
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body mass index, Increased body weight OMIM:614450
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia, Anemia OMIM:127000
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Hyperthyroidism, Autoimmune thrombocytopenia, Abnormality of the end... ORPHA:37042
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Thyroiditis, Iron deficiency anemia, Infertility, Hypocalcemia, Delayed pubert... OMIM:212750
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Cryptorchidism, Pancreatic lymphangiectasis, Splenomegaly, Hepatosplenomegaly, Abnormality of the... ORPHA:1655
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Elevated circulating parathyroid hormone level, Hypocalcemia, Secondary hyperparathyroidism, Hypo... OMIM:264700
Rabson-Mendenhall Syndrome
Enlarged ovaries, Precocious puberty, Hypothyroidism, Insulin-resistant diabetes mellitus, Long p... ORPHA:769
Generalized Pustular Psoriasis
Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... ORPHA:247353
Abcd Syndrome
Neonatal death, Large for gestational age OMIM:600501
Dahlberg-Borer-Newcomer Syndrome
Hypoparathyroidism, Hypothyroidism, Hypocalcemia ORPHA:1563
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Truncal obesity, Large for gestational age ORPHA:293964
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Thyroid lymphangiectasia, Cryptorchidism, Pancreatic lymphangiectasis, Splenomegaly, Hypocalcemia... OMIM:235255
Congenital Disorder Of Glycosylation, Type Ig
Small scrotum, Hypospadias, Cryptorchidism, Hypocalcemia, Micropenis OMIM:607143
Ciliary Dyskinesia, Primary, 19
Male infertility, Absent inner and outer dynein arms OMIM:614935
Timothy Syndrome
Hypothyroidism, Hypocalcemia OMIM:601005
Igg4-Related Thyroid Disease
Nodular goiter, Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland... ORPHA:64744
Alg6-Cdg
Puberty and gonadal disorders, Macroglossia, Increased circulating androgen concentration ORPHA:79320
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hypochr... OMIM:259720
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia ORPHA:99845
Pseudohypoparathyroidism Type 1C
Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test... ORPHA:79444
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp... ORPHA:94093
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypocalcemia, Hypophosphatemia OMIM:600081
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Myopathy, Hypogonadism, Abnormal t... ORPHA:85450
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Increased body weight ORPHA:589905
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Enlarged polycystic ovaries, Abnormal circulating leptin concentration, Insulin... ORPHA:2298
Sarcoidosis
Hemolytic anemia, Hyperthyroidism, Diabetes insipidus, Hypercalcemia, Eosinophilia, Abnormal repr... ORPHA:797
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Decreased res... ORPHA:293978
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Increased body weight ORPHA:276608
Hypocalcemic Vitamin D-Resistant Rickets
Hyperparathyroidism, Hypocalcemia, Hypophosphatemia ORPHA:93160
Castleman Disease
Anemia, Decreased mean corpuscular volume, Thrombocytopenia, Elevated circulating C-reactive prot... ORPHA:160
Hypocalcemic Vitamin D-Dependent Rickets
Elevated circulating parathyroid hormone level, Hypocalcemia, Secondary hyperparathyroidism, Hypo... ORPHA:289157
Eisenmenger Syndrome
Elevated circulating C-reactive protein concentration, Hypochromic microcytic anemia, Iron defici... ORPHA:97214
Cln3 Disease
Left ventricular hypertrophy, Increased circulating androgen concentration ORPHA:228346
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Increased body weight OMIM:615954
Pearson Syndrome
Hypoparathyroidism, Reticulocytosis, Pancytopenia, Diabetes mellitus, Pancreatic fibrosis, Decrea... ORPHA:699
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Hypospadias, Cryptorchidism, Thrombocytopenia, Hypocalcemia, Hyperbilirubinem... ORPHA:163979
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Diabetes mellitus, Septate vagina, Uterus didelphys, Parathyroid hypoplasia, ... ORPHA:2237
Pseudohypoparathyroidism Type 1A
Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test... ORPHA:79443
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Small for gestational age, Increased body weight OMIM:274300
Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, Hypogonadism, Hyperphos... OMIM:103580
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration... ORPHA:36234
Cholera
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration ORPHA:173
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... ORPHA:26793
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... ORPHA:411634
Williams Syndrome
Hypoplasia of penis, Hypogonadotropic hypogonadism, Hypercalcemia, Elevated circulating creatine ... ORPHA:904
Autosomal Dominant Kenny-Caffey Syndrome
Abnormal circulating follicle-stimulating hormone concentration, Anemia, Hyperphosphatemia, Hypoc... ORPHA:93325
Double Outlet Right Ventricle
Hypoparathyroidism, Hypocalcemia, Aplasia/Hypoplasia of the thymus ORPHA:3426
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia ORPHA:352540
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni... OMIM:201750
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Splenomegaly, Hypokalemia, Hypocalcemia OMIM:617913
Alström Syndrome
Precocious puberty in females, Hypergonadotropic hypogonadism, Decreased response to growth hormo... ORPHA:64
Fanconi Anemia, Complementation Group A
Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism OMIM:227650
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemic tetany, Hyperaldosteronism, Hypocalcemia, Hypomagnesemia ORPHA:73224
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Hypocalcemia ORPHA:746
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Gitelman Syndrome
Neoplasm of the pancreas, Maternal diabetes, Hypomagnesemia, Hypermagnesemia, Diabetic ketoacidos... ORPHA:358
Narcolepsy 7
Obesity OMIM:614250
Autosomal Dominant Hypocalcemia
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:428
Velocardiofacial Syndrome
Hypoparathyroidism, Cryptorchidism, Hypocalcemia OMIM:192430
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Elevated circulating creatine kinase concentration, Thrombocytopenia, Leukopenia, E... ORPHA:2785
Smith-Magenis Syndrome
Increased body weight OMIM:182290
Craniofacioskeletal Syndrome
Absent gallbladder, Hypospadias, Hypocalcemia, Cryptorchidism OMIM:300712
Sotos Syndrome
Hypospadias, Hypercalcemia, Phimosis, Cryptorchidism, Decreased fertility, Hydrocele testis, Acut... ORPHA:821
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hemolytic anemia, Diabetes mellitus, Leukocytosis, Hyperkalemia, Hypocalcemia, Thro... ORPHA:544482
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
Williams-Beuren Syndrome
Diabetes mellitus, Hypercalcemia, Early onset of sexual maturation, Micropenis, Hypothyroidism OMIM:194050
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility ORPHA:244
Ciliary Dyskinesia, Primary, 1
Male infertility, Absent outer dynein arms OMIM:244400
Wilson Disease
Failure to thrive, Increased body weight, Weight loss ORPHA:905
Cartilage-Hair Hypoplasia
Hypocalcemia, Anemia, Neutropenia ORPHA:175
Liver Disease, Severe Congenital
Hyponatremia, Hypospadias, Elevated circulating alpha-fetoprotein concentration, Biliary hyperpla... OMIM:619991
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Increased body weight, Large for gestational age ORPHA:263455
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Isotretinoin-Like Syndrome
Lymphopenia, Hypocalcemia ORPHA:2306
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pancytopenia, Small scrotum, Hypoalbuminemia, Bile duct proliferation, Hypocalcemia, Unconjugated... OMIM:613658
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Thyroiditis, T lymphocytopenia, Coo... ORPHA:83471
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia ORPHA:31826
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Insulinoma
Increased body weight ORPHA:97279
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Hyperthyroidism, Hypospadias, Cryptorchidism, Splenomegaly, Hypoplasia of the... ORPHA:567
Autosomal Recessive Malignant Osteopetrosis
Splenomegaly, Hypocalcemia, Anemia, Hypophosphatemia ORPHA:667
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased body weight OMIM:615830
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia... ORPHA:466650
Wiedemann-Rautenstrauch Syndrome
Hypospadias, Cryptorchidism, Long penis, Flexion contracture, Hypoplasia of the thymus, Generaliz... OMIM:264090
Bloom Syndrome
Male infertility, Diabetes mellitus, Premature ovarian insufficiency, Oligozoospermia, Azoospermia ORPHA:125
Sotos Syndrome
Overgrowth, Increased body weight, Tall stature OMIM:117550
Wiedemann-Rautenstrauch Syndrome
Hyperthyroidism, Hypogonadotropic hypogonadism, Hypospadias, Decreased response to growth hormone... ORPHA:3455
Digeorge Syndrome
Parathyroid agenesis, Decreased circulating parathyroid hormone level, Thrombocytopenia, Splenome... OMIM:188400
Hennekam Syndrome
Splenomegaly, Lymphopenia, Hypocalcemia ORPHA:2136
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hemolytic anemia, Decreased response to growth hormone stimulation test, Cryptorchidism, Hepatosp... OMIM:619503
Pseudoleprechaunism Syndrome, Patterson Type
Premature adrenarche, Diabetes mellitus, Increased circulating androgen concentration ORPHA:2976
Charge Syndrome
Hypoparathyroidism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:214800
Cranioectodermal Dysplasia 1
Hypocalcemia OMIM:218330
Magel2-Related Prader-Willi-Like Syndrome
Abdominal obesity, Failure to thrive, Increased body weight ORPHA:398069
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Abdominal obesity, Increased body weight ORPHA:189427
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Increased body weight ORPHA:264580
Johanson-Blizzard Syndrome
Diabetes mellitus, Hypospadias, Septate vagina, Urethrovaginal fistula, Conjugated hyperbilirubin... OMIM:243800
Cystinosis, Nephropathic
Male infertility, Skeletal muscle atrophy, Diabetes mellitus, Myopathy, Primary hypothyroidism, D... OMIM:219800
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Increased body weight ORPHA:79240
Noonan Syndrome 1
Male infertility, Cryptorchidism, Hypogonadism, Hypospadias OMIM:163950
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Small scrotum, Hypocalcemia OMIM:620330
Autosomal Recessive Hypophosphatemic Rickets
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia ORPHA:289176
Hellp Syndrome
Increased body weight ORPHA:244242
Cystic Fibrosis
Male infertility OMIM:219700
Cushing Disease
Truncal obesity, Abdominal obesity, Increased body weight ORPHA:96253

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 Plekha1

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 Plekha1.

No publications found that use IMPC mice or data for Plekha1.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Plekha1tm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Plekha1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Plekha1tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Plekha1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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