Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
small testis Plekha1tm1b(EUCOMM)Hmgu HOM Early adult 0.00
abnormal eye morphology Plekha1tm1b(EUCOMM)Hmgu HOM Early adult 0.00
increased mean corpuscular volume Plekha1tm1b(EUCOMM)Hmgu HOM   Early adult 9.95×10-06
increased circulating calcium level Plekha1tm1b(EUCOMM)Hmgu HOM   Early adult 2.35×10-05

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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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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
Partial Chromosome Y Deletion
Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Male infert... ORPHA:1646
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Isochromosomy Yp
Ambiguous genitalia, Azoospermia, Decreased testicular size, Male infertility, Primary gonadal in... ORPHA:98797
Testicular Torsion
Torsion of appendix of testis, Testicular torsion OMIM:187400
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Azoospermia, Spermatogenesis maturation arrest OMIM:619145
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Hyperplasia of the Leydig cells, Azoospermia, Bilateral breast hypoplasia, Oli... ORPHA:52901
Persistent Mullerian Duct Syndrome, Types I And Ii
Abnormal circulating hormone concentration, Male infertility, Bilateral cryptorchidism, Abnormali... OMIM:261550
Isochromosomy Yq
Ambiguous genitalia, Azoospermia, Gonadal tissue inappropriate for external genitalia or chromoso... ORPHA:98798
Hypogonadotropic Hypogonadism 23 Without Anosmia
Androgen insufficiency, Ovarian cyst, Abnormality of the Leydig cells, Oligomenorrhea, Micropenis... OMIM:228300
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Urogenital sinus anomaly, Vanishing testis, Decre... OMIM:273250
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Pyridoxine-responsive sideroblastic anemia, Sideroblastic anemia, Decreased mean cor... OMIM:206000
Leydig Cell Hypoplasia
Cryptorchidism, Male hypogonadism, Abnormal internal genitalia, Secondary amenorrhea, Micropenis,... ORPHA:755
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Cryptorchidism, Hypoplasia of the uterus, Decreased circulating gonadotropin concentration, Prima... OMIM:614841
Spermatogenic Failure 46
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... OMIM:619095
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Infertility, Increased circulating gonadotropin level, Male hypogonadism, Abnormal vagina morphol... ORPHA:168563
Hypogonadotropic Hypogonadism 25 With Anosmia
Cryptorchidism, Primary amenorrhea, Hypothalamic gonadotropin-releasing hormone deficiency, Decre... OMIM:618841
Spermatogenic Failure 43
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Absent sperm axoneme centra... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619094
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:206100
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... OMIM:301059
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia OMIM:619108
X-Linked Intellectual Disability, Van Esch Type
Cryptorchidism, Male hypogonadism, Increased circulating gonadotropin level, Retractile testis, H... ORPHA:163976
Deafness-Infertility Syndrome
Reduced sperm motility, Male infertility, Abnormal spermatogenesis OMIM:611102
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... OMIM:618664
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility OMIM:619102
Pituicytoma
Abnormality of the pituitary gland, Amenorrhea, Pituicytoma, Pituitary hypothyroidism, Hypopituit... ORPHA:251623
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Hypogonadotropic Hypogonadism 24 Without Anosmia
Infertility, Decreased muscle mass, Azoospermia, Primary amenorrhea, Decreased testicular size, H... OMIM:229070
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Increased circulating gonadotropin level, Azoospermia, Non-obstructive azoospermia, Obstructive a... ORPHA:399805
Spermatogenic Failure 54
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... OMIM:619379
Spermatogenic Failure 42
Absent sperm flagella, Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coil... OMIM:618745
Spermatogenic Failure 39
Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla... OMIM:618643
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Hypochromia, Azoospermia, Hypogonadism, Anemia, Spl... OMIM:615234
X-Linked Intellectual Disability, Cilliers Type
Cryptorchidism, Male hypogonadism, Increased circulating gonadotropin level, Hypergonadotropic hy... ORPHA:163971
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Chromosome Xq27.3-Q28 Duplication Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Decreased serum testosterone concentrat... OMIM:300869
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Spermatogenic Failure 7
Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia OMIM:612997
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity OMIM:613375
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Thrombocytopenia, Acute myeloid leukemia, Increased mean corpuscular volume OMIM:252270
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Hyperbili... OMIM:616689
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,... ORPHA:529970
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Increased circulating gonadotropin level, Non-obstructive azoospermia, Decreased... ORPHA:399808
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility OMIM:618670
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90793
49,Xxxyy Syndrome
Ambiguous genitalia, Increased circulating gonadotropin level, Male hypogonadism, Abnormality of ... ORPHA:261534
Familial Pseudohyperkalemia
Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Increased mean corpuscular volume, Hy... ORPHA:90044
Hyperparathyroidism 1
Hypercalcemia, Primary hyperparathyroidism OMIM:145000
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemi... OMIM:619326
Mental Retardation, Autosomal Dominant 39
Obesity OMIM:616521
46,Xy Partial Gonadal Dysgenesis
Cryptorchidism, Abnormal internal genitalia, Delayed puberty, Female external genitalia in indivi... ORPHA:251510
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:66628
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Abnormal circulating dehydroepiandrosterone concentration, Cryptorchidism, Female external genita... ORPHA:90791
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Spermatogenic Failure 18
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617576
Spermatogenic Failure 20
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617593
Spermatogenic Failure 19
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617592
Spermatogenic Failure 35
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618153
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age OMIM:240900
Normosmic Congenital Hypogonadotropic Hypogonadism
Cryptorchidism, Male hypogonadism, Azoospermia, Breast hypoplasia, Non-obstructive azoospermia, C... ORPHA:432
Dehydrated Hereditary Stomatocytosis
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Increased circulating ferrit... ORPHA:3202
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:179494
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Cryptorchidism, Microphallus, Absence of pubertal development, Primary amenorrhea, Hypogonadotrop... OMIM:614840
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Ring Chromosome Y Syndrome
Cryptorchidism, Ambiguous genitalia, Male hypogonadism, Azoospermia, Ambiguous genitalia, male, U... ORPHA:261529
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Testicular Agenesis
Urethrovaginal fistula, Ambiguous genitalia, Increased circulating gonadotropin level, Absent tes... ORPHA:325124
Parathyroid Carcinoma
Parathyroid carcinoma, Hypercalcemia, Hyperparathyroidism OMIM:608266
Kennedy Disease
Erectile dysfunction, Testicular atrophy, Type II diabetes mellitus, Skeletal muscle atrophy, Dec... ORPHA:481
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Cryptorchidism, Delayed puberty, Female external genitalia in individual with 46,XY karyotype, De... ORPHA:90796
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume OMIM:261000
46,Xx Sex Reversal 2
Ovotestis, Azoospermia, Bifid scrotum, Sex reversal, Scrotal hypoplasia, Hypoplasia of the uterus... OMIM:278850
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Adamantinoma
Hypercalcemia ORPHA:55881
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F, Reticulocytopenia OMIM:610629
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Autosomal Recessive Spastic Paraplegia Type 26
Decreased serum testosterone concentration, Premature ovarian insufficiency, Skeletal muscle atrophy ORPHA:101006
Spermatogenic Failure 11
Infertility, Abnormal sperm morphology OMIM:615081
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Central hypothyroidism, Decreas... ORPHA:453533
Spermatogenic Failure 38
Absent sperm flagella, Reduced sperm motility, Abnormal sperm head morphology, Oligospermia, Abno... OMIM:618433
Spermatogenic Failure 25
Decreased testicular size, Azoospermia, Cryptozoospermia OMIM:617960
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Decreased circulating parathyroid hormone level, Hyperphosphatemia, Hypocalcemic se... OMIM:618883
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Infertility, Abnormal sperm morphology OMIM:608653
Familial Male-Limited Precocious Puberty
Long penis, Oligospermia, Macroorchidism, Male infertility, Precocious puberty ORPHA:3000
49,Xyyyy Syndrome
Male hypogonadism, Increased circulating gonadotropin level, Azoospermia, Abnormality of the test... ORPHA:99330
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia, Hyperparathyroidism, Anemia ORPHA:2668
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Decreased testicular size, Hypogonadism, Decreased serum testosterone concentration OMIM:201100
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Cryptorchidism, Infertility, Primary amenorrhea, Hypogonadotropic hypogonadism, Decreased testicu... OMIM:146110
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Hyperbilirubinemia, Abnormal erythrocyte morphology, Aniso... ORPHA:98870
Hyperparathyroidism 4
Parathyroid carcinoma, Hypercalcemia, Primary hyperparathyroidism OMIM:617343
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Spermatogenic Failure 51
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Micro... OMIM:619177
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Male infertility, Micropenis, Elevated circulating luteinizing hormone leve... ORPHA:90797
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Cryptorchidism, Small hypothenar eminence, Delayed puberty, Aplasia of the ovary, Hypergonadotrop... ORPHA:2232
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Hypersecretion Of Adrenal Androgens, Familial
Increased circulating androgen concentration, Adrenal overactivity, Premature pubarche, Amenorrhea OMIM:145295
Macrosomia With Microphthalmia, Lethal
Large for gestational age OMIM:248110
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Elevated circulating luteinizing hormone level,... ORPHA:99429
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Azoospermia, Decreased transferrin saturation, Hypo... ORPHA:300298
Gonadoblastoma
Ambiguous genitalia, Abnormality of the ovary, Dysgerminoma, Female external genitalia in individ... ORPHA:206484
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hypochromia, Conjugated hyperbilirubinemia, Erythro... OMIM:616860
Pseudohypoparathyroidism, Type Ii
Pseudohypoparathyroidism, Hypocalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormo... OMIM:203330
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Hypercalcemia, Abnormal vagina morphology, Anemia ORPHA:2123
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Cryptorchidism, Adrenal hypoplasia, Hypercalcemia, Hypospadias, Micropenis, Decreased response to... OMIM:614732
Ane Syndrome
Abnormal response to ACTH stimulation test, Adrenocorticotropin deficient adrenal insufficiency, ... ORPHA:157954
Bardet-Biedl Syndrome 7
Obesity OMIM:615984
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
46,Xx Testicular Disorder Of Sex Development
Ambiguous genitalia, Decreased testicular size, Male hypogonadism, Polycystic ovaries ORPHA:393
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Hypothyroidism, Lymphopenia, Neutropenia, Anemia, Increased mean cor... OMIM:618849
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Calf muscle hypertrophy, Testicular atrophy, Limb muscle weakness, Decreased fertility OMIM:313200
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Spermatogenic Failure 24
Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coiled sperm flagella, Shor... OMIM:617959
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Absent testis, Abnormality... ORPHA:983
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating luteinizing hormone level, Breast aplasia, Decreased serum testosterone conc... ORPHA:3044
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemia, Congenital hypoparathyroidism, Hypomagnesemia, Parathyroid agenesis, Male infertili... ORPHA:2239
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy, Pure red cell aplasia, Anemia OMIM:618165
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Cryptorchidism, Ambiguous genitalia, Urogenital sinus anomaly, Ambiguous genitalia, male, Bifid s... ORPHA:753
45,X/46,Xy Mixed Gonadal Dysgenesis
Cryptorchidism, Chordee, Abnormal internal genitalia, Delayed puberty, Epispadias, Male infertili... ORPHA:1772
Symptomatic Form Of Hemochromatosis Type 1
Infertility, Decreased muscle mass, Amenorrhea, Hypothyroidism, Erectile dysfunction, Testicular ... ORPHA:465508
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Male infertility, Obstructive azoospermia, Oligospermia ORPHA:48
Functioning Gonadotropic Adenoma
Pituitary hypothyroidism, Delayed puberty, Decreased female libido, Anterior hypopituitarism, Pit... ORPHA:91348
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Cryptorchidism, Delayed puberty, Female external genitalia in individual with 46,XY karyotype, De... ORPHA:289548
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Cryptorchidism, Delayed puberty, Female external genitalia in individual with 46,XY karyotype, De... ORPHA:168558
Pseudohypoparathyroidism Type 2
Hypocalcemia, Pseudohypoparathyroidism, Hypocalcemic tetany, Elevated circulating parathyroid hor... ORPHA:94090
Premature Ovarian Failure 17
Elevated circulating luteinizing hormone level, Decreased antimullerian hormone level, Decreased ... OMIM:619146
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Adenohypophysitis
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Amenorrhea, Decreased ci... ORPHA:95512
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Micropenis, Hypothyroidism, Hypoplasia of the fallopian tube, Hypoplasia of the... ORPHA:3464
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:754
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Infantile hypercalcemia, Hypercalcemia, Primary hyperparathyroidism, Elevated c... ORPHA:99879
46,Xx Sex Reversal 5
Aplasia of the left hemidiaphragm, Ambiguous genitalia, Urogenital sinus anomaly, Increased serum... OMIM:618901
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Elliptocytosis 3
Chronic hemolytic anemia, Elliptocytosis, Decreased mean corpuscular volume, Pyropoikilocytosis OMIM:617948
47,Xyy Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Azoospermia, Oligospermia, Increased se... ORPHA:8
Acromegaloid Facial Appearance Syndrome
Large for gestational age OMIM:102150
Panhypophysitis
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Amenorrhea, Decreased ci... ORPHA:95513
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Premature Ovarian Failure 16
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Premature ova... OMIM:618723
Bardet-Biedl Syndrome 22
Obesity OMIM:617119
Polyembryoma
Abnormality of the endocrine system, Irregular menstruation, Macroorchidism, Increased serum sero... ORPHA:180229
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Decreased testicular size, Hypogonadism, Micropenis OMIM:616030
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Hypervitaminosis A, Susceptibility To
Hypercalcemia OMIM:240150
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Ambiguous genitalia, Increased circulating androstenedione concentration, Long penis, Premature p... ORPHA:90795
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Cryptorchidism, Ambiguous genitalia, Infertility, Hypothyroidism, Abnormality of the urethra, Mal... ORPHA:752
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Woodhouse-Sakati Syndrome
Decreased serum insulin-like growth factor 1, Hypergonadotropic hypogonadism, Hypoplasia of the f... OMIM:241080
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age ORPHA:356996
Hyperparathyroidism 2 With Jaw Tumors
Parathyroid carcinoma, Hurthle cell thyroid adenoma, Hypercalcemia, Parathyroid adenoma, Hyperpar... OMIM:145001
Aarskog-Scott Syndrome
Cryptorchidism, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Testicu... OMIM:305400
Rhabdoid Tumor
Thrombocytopenia, Hypercalcemia, Anemia ORPHA:69077
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia, Hyperparathyroidism OMIM:239199
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Macrosomia Adiposa Congenita
Large for gestational age, Obesity OMIM:248100
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age OMIM:601820
Non-Functioning Pituitary Adenoma
Male hypogonadism, Pituitary hypothyroidism, Decreased fertility in females, Adrenocorticotropin ... ORPHA:91349
Bardet-Biedl Syndrome 12
Obesity OMIM:615989
Majeed Syndrome
Microcytic anemia, Erythroid hyperplasia, Delayed puberty, Anemia of inadequate production, Decre... OMIM:609628
Ovarian Fibrothecoma
Abnormality of the ovary, Abnormality of the endometrium, Metrorrhagia, Gonadal calcification, Ab... ORPHA:314478
Alpha-Heavy Chain Disease
Hypocalcemia, Premature ovarian insufficiency, Anemia, Splenomegaly ORPHA:100025
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Summitt Syndrome
Obesity OMIM:272350
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Azoospermia, De... OMIM:308700
Progeria-Short Stature-Pigmented Nevi Syndrome
Hypergonadotropic hypogonadism, Insulin-resistant diabetes mellitus, Delayed puberty, Decreased s... ORPHA:2959
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age OMIM:256450
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Decreased circulating parathyroid hormone level, Hypoparathyroidism, Hyperphosphatemia OMIM:146200
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Testicular dysgenesis, Male pseudohermaphroditism, Polycystic ovaries ORPHA:242
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Hypomethioninemia, Methylmalonic acidemia, Increased mean corpuscular volum... OMIM:277410
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Truncal obesity, Large for gestational age ORPHA:293964
Hypophosphatasia
Hypercalcemia, Anemia ORPHA:436
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Cryptorchidism, Azoospermia, Primary amenorrhea, Decreased testicular size, Micropenis OMIM:614897
Hypogonadism-Cataract Syndrome
Hypogonadism, Infertility, Elevated circulating follicle stimulating hormone level, Male hypogona... OMIM:240950
Hypophosphatemic Rickets And Hyperparathyroidism
Parathyroid hyperplasia, Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia, Elevated circ... OMIM:612089
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Hypocalciuric Hypercalcemia, Familial, Type I
Parathyroid adenoma, Hypermagnesemia, Hypercalcemia, Hyperparathyroidism OMIM:145980
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Decreased circu... OMIM:308750
Thymic Neuroendocrine Tumor
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Neuroendocrine neoplasm, ... ORPHA:97289
Spermatogenic Failure 28
Decreased testicular size, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:618086
Spastic Paraplegia 26, Autosomal Recessive
Decreased serum testosterone concentration, Distal amyotrophy OMIM:609195
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Parathyroid hyperplasia, Hypercalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormo... OMIM:617994
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Hypokalemia, Decreased mean corpuscular volume, Hepatosplenome... OMIM:611590
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Long penis, Elevated serum 11-deoxycortisol,... OMIM:202010
Methylcobalamin Deficiency Type Cble
Neutropenia, Pancytopenia, Hypomethioninemia, Increased mean corpuscular volume, Hyperhomocystine... ORPHA:2169
Pseudohypoparathyroidism, Type Ib
Pseudohypoparathyroidism, Hypocalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormo... OMIM:603233
Beta-Thalassemia Intermedia
Abnormality of iron homeostasis, Persistence of hemoglobin F, Leukocytosis, Hypothyroidism, Extra... ORPHA:231222
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Decreased testicular size, Primary amenorrhea OMIM:614858
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Primary amenorrhea, Hypertriglyceridemia, Splenomegaly, Diabe... OMIM:612526
Generalized Glucocorticoid Resistance Syndrome
Ambiguous genitalia, Increased urinary cortisol level, Infertility, Increased circulating cortiso... ORPHA:786
Narcolepsy Type 1
Obesity ORPHA:2073
Androgen Insensitivity, Partial
Cryptorchidism, Infertility, Azoospermia, Bifid scrotum, Absent vas deferens, Perineal hypospadia... OMIM:312300
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Abnormality of the diaphragm, Congenital diaphragmatic hernia OMIM:601163
Retinitis Pigmentosa And Erythrocytic Microcytosis
Elliptocytosis, Anisocytosis, Decreased serum iron, Anemia, Decreased mean corpuscular volume, Po... OMIM:616959
Body Mass Index Quantitative Trait Locus 20
Tall stature, Obesity OMIM:618406
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Calcinosis, Splenomegaly, Hypercalcemia, Primary hyperparathyroidism, Elevated ... OMIM:239200
Late-Onset Isolated Acth Deficiency
Decreased circulating ACTH level, Adrenocorticotropin deficient adrenal insufficiency, Graves dis... ORPHA:199299
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia, Elevated circulating parathyroid hormone level OMIM:619073
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Congenital adrenal hyperplasia, Clitoral hypertrophy, Spontaneous abortion, Inc... ORPHA:96181
Addison Disease
Hyperuricemia, Delayed puberty, Hypercalcemia, Decreased circulating aldosterone level, Thiamine-... ORPHA:85138
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia, Primary hyperparathyroidism OMIM:145981
Meningioma
Enlarged pituitary gland, Lower limb muscle weakness, Pituitary hypothyroidism, Neoplasm of the p... ORPHA:2495
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Azoospermia, Hyp... OMIM:612885
Mccune-Albright Syndrome
Ovarian cyst, Abnormal endocrine physiology, Hyperplasia of the Leydig cells, Elevated circulatin... ORPHA:562
46,Xx Ovotesticular Disorder Of Sex Development
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:2138
Shwachman-Diamond Syndrome
Hypoamylasemia, Chronic neutropenia, Neutropenia, Impaired neutrophil chemotaxis, Normocytic anem... ORPHA:811
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90794
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia OMIM:615883
Oculoskeletodental Syndrome
Cryptorchidism, Hypocalcemia, Hypothyroidism, Hypercalcemia, Splenomegaly OMIM:618440
Refractory Celiac Disease
Iron deficiency anemia, Hypocalcemia, Hypoproteinemia, Hypophosphatemia, Microcytic anemia, Incre... ORPHA:398063
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Obesity OMIM:264010
Bardet-Biedl Syndrome 10
Obesity OMIM:615987
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia, Anemia OMIM:241500
Multiple Endocrine Neoplasia Type 4
Hyperinsulinemic hypoglycemia, Elevated circulating growth hormone concentration, Increased circu... ORPHA:276152
2P21 Microdeletion Syndrome
Hypocalcemia, Hypogonadism ORPHA:163693
Multiple Endocrine Neoplasia, Type I
Prolactinoma, Elevated circulating growth hormone concentration, Increased circulating cortisol l... OMIM:131100
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Leukocytosis, Thrombocytopenia, Acute myeloid leukemi... ORPHA:86839
Oculocerebrodental Syndrome
Hypocalcemia, Hypercalcemia ORPHA:557003
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Non-Functioning Paraganglioma
Hypercalcemia, Paraganglioma, Paraganglioma of head and neck ORPHA:94080
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Adrenal Hypoplasia, Congenital
Cryptorchidism, Azoospermia, Adrenal hypoplasia, Oligospermia, Decreased circulating cortisol lev... OMIM:300200
Frasier Syndrome
Increased circulating gonadotropin level, Ambiguous genitalia, male, Gonadoblastoma, Hypergonadot... ORPHA:347
Bardet-Biedl Syndrome 6
Obesity OMIM:605231
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal response to ACTH stimulation test, Cryptorchidism, Abnormal response to human chorionic ... ORPHA:95699
Diethylstilbestrol Syndrome
Cryptorchidism, Decreased fertility in females, Abnormality of the uterus, Abnormal reproductive ... ORPHA:1916
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Abnormal vagina morphology, Hypoplasia of the uterus, Primary amenorrhe... ORPHA:247768
Uremic Pruritus
Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia, Increased blood urea nitrogen ORPHA:94059
16Q24.3 Microdeletion Syndrome
Thrombocytopenia, Cryptorchidism, Increased mean corpuscular volume ORPHA:261250
Pheochromocytoma--Islet Cell Tumor Syndrome
Pheochromocytoma, Hypercalcemia OMIM:171420
Hemochromatosis, Type 1
Azoospermia, Amenorrhea, Impotence, Testicular atrophy, Hypogonadotropic hypogonadism, Diabetes m... OMIM:235200
Carcinoma Of Esophagus
Weight loss, Obesity ORPHA:70482
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Hypercalcemia, Increased blood urea nitrogen, Delayed puberty ORPHA:251004
Steinert Myotonic Dystrophy
Male hypogonadism, Pelvic girdle muscle weakness, Shoulder girdle muscle weakness, Ovarian carcin... ORPHA:273
Familial Glucocorticoid Deficiency
Cryptorchidism, Decreased circulating dehydroepiandrosterone concentration, Impaired cortisol res... ORPHA:361
Acute Adrenal Insufficiency
Androgen insufficiency, Adrenal hypoplasia, Primary adrenal insufficiency, Decreased circulating ... ORPHA:95409
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Splenomegaly ORPHA:172
Hypocalcemia, Autosomal Dominant 1
Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
EMG: myopathic abnormalities, Hypergonadotropic hypogonadism, Rhabdomyolysis, Primary amenorrhea,... OMIM:157640
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Abnormality of iron homeostasis, Decreased mean corpuscular hemogl... ORPHA:231226
Hypercalcemia, Infantile, 1
Infantile hypercalcemia OMIM:143880
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion
Abnormal circulating calcium concentration, Abnormality of the parathyroid gland, Secondary hyper... ORPHA:140286
Infantile Myofibromatosis
Neoplasm of the pancreas, Hypercalcemia ORPHA:2591
Beta-Thalassemia Major
Hypochromic microcytic anemia, Abnormality of iron homeostasis, Decreased mean corpuscular hemogl... ORPHA:231214
Myotonic Dystrophy 1
Hypogonadism, Facial diplegia, Testicular atrophy, Cholelithiasis OMIM:160900
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Blackfan-Diamond Anemia
Elevated red cell adenosine deaminase level, Erythroid hypoplasia, Pure red cell aplasia, Thrombo... ORPHA:124
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypermagnesemia, Hypercalcemia, Primary hyperparathyroidism OMIM:600740
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612562
Vipoma
Increased circulating gonadotropin level, Elevated circulating growth hormone concentration, Incr... ORPHA:97282
Adrenocortical Carcinoma
Abnormal circulating dehydroepiandrosterone concentration, Paradoxical increased cortisol secreti... ORPHA:1501
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Endometrial carcinoma, Macroorchidism, Hyperactive renin-an... ORPHA:90790
46,Xy Sex Reversal 8
Sex reversal, Cryptorchidism, Ambiguous genitalia, Male pseudohermaphroditism OMIM:614279
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
46,Xx Gonadal Dysgenesis
Increased circulating gonadotropin level, Streak ovary, Primary amenorrhea, Decreased fertility, ... ORPHA:243
Hernández-Aguirre Negrete Syndrome
Obesity ORPHA:2139
Central Precocious Puberty
Overgrowth, Increased body weight, Obesity ORPHA:759
Classic Galactosemia
Cryptorchidism, Decreased fertility in females, Decreased serum insulin-like growth factor 1, Oli... ORPHA:79239
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Obesity ORPHA:71529
Leukoencephalopathy With Vanishing White Matter
Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea, Decreased circulating ... OMIM:603896
Familial Parathyroid Adenoma
Parathyroid hyperplasia, Parathyroid carcinoma, Hypophosphatemia, Hypercalcemia, Primary hyperpar... ORPHA:99877
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Hypocalcemia, Hypophosphatemia ORPHA:89937
Autism, Susceptibility To, 18
Overweight, Tall stature OMIM:615032
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
X-Linked Intellectual Disability, Snyder Type
Cryptorchidism, Decreased muscle mass, Abnormality of the Leydig cells, Camptodactyly, Testicular... ORPHA:3063
Somatostatinoma
Hypochromic microcytic anemia, Increased circulating gonadotropin level, Elevated circulating gro... ORPHA:97283
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia, Hypoparathyroidism OMIM:156400
Zollinger-Ellison Syndrome
Parathyroid hyperplasia, Pituitary growth hormone cell adenoma, Increased urinary cortisol level,... ORPHA:913
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Infantile hypercalcemia, Hypocalcemic sei... ORPHA:405
Bardet-Biedl Syndrome 19
Obesity OMIM:615996
Hyperparathyroidism-Jaw Tumor Syndrome
Hypophosphatemia, Infantile hypercalcemia, Uterine leiomyoma, Abnormality of the parathyroid morp... ORPHA:99880
Fibrous Dysplasia Of Bone
Hypophosphatemia, Ovarian cyst, Elevated circulating growth hormone concentration, Increased circ... ORPHA:249
Perrault Syndrome 4
Increased circulating gonadotropin level, Oligomenorrhea, Hypoplasia of the uterus, Primary ameno... OMIM:615300
Aromatase Deficiency
Cryptorchidism, Hypergonadotropic hypogonadism, Primary amenorrhea, Female infertility, Type II d... ORPHA:91
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Congenital hypoparathyroidism, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:93324
Mastocytosis
Chronic leukemia, Hypercalcemia, Splenomegaly, Mastocytosis, Acute leukemia ORPHA:98292
Parathyroid Carcinoma
Hypophosphatemia, Parathyroid carcinoma, Infantile hypercalcemia, Uterine leiomyoma, Abnormality ... ORPHA:143
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Cryptorchidism, Absence of labia majora, Hypoplastic labia minora, Decreased serum testosterone c... ORPHA:495875
Glucagonoma
Increased circulating gonadotropin level, Adrenocortical adenoma, Elevated circulating growth hor... ORPHA:97280
Robinow Syndrome
Cryptorchidism, Webbed penis, Scrotal hypoplasia, External genital hypoplasia, Clitoral hypoplasi... ORPHA:97360
Hyperostosis Frontalis Interna
Obesity OMIM:144800
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Obesity OMIM:615418
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Cryptorchidism, Hypocalcemia, Congenital hypoparathyroidism, Micropenis, Hyperphosphatemia, Hypoc... OMIM:241410
Sporadic Pheochromocytoma/Secreting Paraganglioma
Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Paraganglioma, Hypercalcemia, Paragangli... ORPHA:276621
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Hypocalcemia, Congenital hypoparathyroidism, Anemia OMIM:244460
Abcd Syndrome
Large for gestational age OMIM:600501
Ppoma
Intestinal carcinoid, Increased circulating gonadotropin level, Elevated circulating growth hormo... ORPHA:97278
Cortisone Reductase Deficiency 1
Obesity OMIM:604931
Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Delayed puberty, Abnormal spermatogenesis ORPHA:90646
Autoimmune Hypoparathyroidism
Hypocalcemia, Hypocalcemic tetany, Autoimmune hypoparathyroidism, Hyperphosphatemia, Hypocalcemic... ORPHA:36913
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Pseudohypoparathyroidism, Hypocalcemic tetany, Pituitary resistance to thyroid horm... ORPHA:94089
Familial Isolated Hypoparathyroidism
Hypocalcemia, Hypoparathyroidism, Abnormal calcium-phosphate regulating hormone level ORPHA:2238
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Hypotonia-Cystinuria Syndrome
Hypergonadotropic hypogonadism, Hypocalcemia, Decreased response to growth hormone stimuation test OMIM:606407
Grfoma
Intestinal carcinoid, Increased circulating gonadotropin level, Elevated circulating growth hormo... ORPHA:97261
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Extramedullary hematopoiesis, Hyperbilirubinemia, Pancytopenia, Thrombocytopenia, A... OMIM:259720
Halothane Hepatitis
Obesity OMIM:234350
Multiple Endocrine Neoplasia Type 1
Pancreatic endocrine tumor, Elevated circulating growth hormone concentration, Increased circulat... ORPHA:652
Primary Parathyroid Hyperplasia
Parathyroid hyperplasia, Hypophosphatemia, Hypercalcemia, Primary hyperparathyroidism, Elevated c... ORPHA:99878
Ovarian Hyperstimulation Syndrome
Ovarian cyst, Increased circulating gonadotropin level, Hemorrhagic ovarian cyst, Enlarged polycy... ORPHA:64739
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Elliptocytosis, Reticulocytosis, Anisocytosis, Decreased mean corpuscul... OMIM:618278
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity ORPHA:88643
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Hypothyroidism, Central, With Testicular Enlargement
Overweight OMIM:300888
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity ORPHA:329249
Albers-Schönberg Osteopetrosis
Hypocalcemia, Abnormal leukocyte morphology, Anemia ORPHA:53
Hepatocellular Carcinoma
Thrombocytosis, Polycythemia, Hyperbilirubinemia, Hyponatremia, Thrombocytopenia, Hypokalemia, Hy... ORPHA:88673
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypomagnesemia, Hypocalcemia, Hypokalemia, Anemia OMIM:175500
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Multiple Myeloma
Elevated circulating creatinine concentration, Hyperproteinemia, Hypercalcemia, Anemia, Splenomegaly ORPHA:29073
Hereditary Pheochromocytoma-Paraganglioma
Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Paraganglioma, Hypercalcemia, Elevated c... ORPHA:29072
Retinitis Pigmentosa 71
Obesity OMIM:616394
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Immotile sperm OMIM:614874
Multiple Endocrine Neoplasia Type 2
Parathyroid hyperplasia, Cervical neoplasm, Pheochromocytoma, Thyroid nodule, Hypercalcemia, Prim... ORPHA:653
Wolfram Syndrome 1
Diabetes insipidus, Testicular atrophy, Diabetes mellitus, Hypothyroidism OMIM:222300
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypercalcemia, Hypertriglyceridemia, Hypoparathyroidism, Precocious puberty ORPHA:369837
Pheochromocytoma
Pheochromocytoma, Hypercalcemia OMIM:171300
Body Mass Index Quantitative Trait Locus 19
Obesity OMIM:617885
X-Linked Agammaglobulinemia
Thrombocytopenia, Hypocalcemia, Neutropenia, Anemia ORPHA:47
Bartter Syndrome, Type 1, Antenatal
Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circulating renin level, Incr... OMIM:601678
Timothy Syndrome
Hypothyroidism, Hypocalcemia OMIM:601005
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating ACTH level, Adrenocorticotropin deficient adrenal insufficiency, Decreased ... ORPHA:293978
Monosomy 13Q34
Infantile hypercalcemia, Metrorrhagia ORPHA:96168
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Nephronophthisis 15
Obesity OMIM:614845
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Rabson-Mendenhall Syndrome
Macroglossia, Long penis, Enlarged ovaries, Hypothyroidism, Increased circulating androgen concen... ORPHA:769
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia ORPHA:476126
Obesity Due To Prohormone Convertase I Deficiency
Childhood-onset truncal obesity, Failure to thrive, Obesity ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Childhood-onset truncal obesity, Failure to thrive, Obesity ORPHA:71526
Diarrhea 10, Protein-Losing Enteropathy Type
Cryptorchidism, Hypocalcemia, Hypothyroidism, Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia... OMIM:618183
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia, Pancytopenia, Thrombocytopenia, Anemia, Splenomegaly OMIM:259700
Congenital Disorder Of Glycosylation, Type Ig
Cryptorchidism, Hypocalcemia, Scrotal hypoplasia, Hypospadias, Micropenis OMIM:607143
Sanjad-Sakati Syndrome
Cryptorchidism, Hypocalcemia, Congenital hypoparathyroidism, Hypoplasia of penis, Hypoparathyroid... ORPHA:2323
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Colchicine Poisoning
Hypophosphatemia, Hypocalcemia, Leukocytosis, Hyponatremia, Abnormal blood ion concentration, Hyp... ORPHA:31824
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Primary Intestinal Lymphangiectasia
Iron deficiency anemia, Hypocalcemia, Hypoproteinemia, Lymphopenia, Hypoalbuminemia, Vaginal lymp... ORPHA:90362
Dahlberg-Borer-Newcomer Syndrome
Hypothyroidism, Hypoparathyroidism, Hypocalcemia ORPHA:1563
Ciliary Dyskinesia, Primary, 14
Reduced sperm motility, Absent inner dynein arms, Immotile sperm, Abnormal axonemal organization ... OMIM:613807
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body mass index, Increased body weight OMIM:614450
Renal Tubular Acidosis, Distal, 1
Hypocalcemia OMIM:179800
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Transient hypophosphatemia, Anemia, Hypoparathyroidism, Hyperphosphatemia OMIM:127000
Secondary Intestinal Lymphangiectasia
Hypocalcemia, Lymphopenia, Hypoproteinemia ORPHA:90363
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Cryptorchidism, Pancreatic lymphangiectasis, Abnormality of the uterus, Hypocalcemia, Hypoprotein... ORPHA:1655
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Iron deficiency anemia, Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T... ORPHA:37042
Hypophosphatemic Rickets
Parathyroid hyperplasia, Hypophosphatemia, Hyperparathyroidism, Hyperthyroidism, Hypercalcemia, E... ORPHA:437
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Cryptorchidism, Pancreatic lymphangiectasis, Hypocalcemia, Hypoproteinemia, Thyroid lymphangiecta... OMIM:235255
Insulin-Resistance Syndrome Type B
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Enlarged ovaries, Abnormality of circulating lep... ORPHA:2298
Pseudohypoparathyroidism Type 1C
Hypocalcemia, Oligomenorrhea, Pseudohypoparathyroidism, Hypergonadotropic hypogonadism, Hypocalce... ORPHA:79444
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Infertility, Hypocalcemia, Thrombocytosis, Thyroiditis, Delayed puberty, ... OMIM:212750
Gracile Bone Dysplasia
Hypocalcemia, Hypoplastic spleen, Micropenis, Asplenia OMIM:602361
Pseudohypoparathyroidism, Type Ic
Pseudohypoparathyroidism, Hypothyroidism, Hypocalcemic tetany, Elevated circulating parathyroid h... OMIM:612462
Bardet-Biedl Syndrome 8
Obesity OMIM:615985
Narcolepsy 7
Obesity OMIM:614250
Coenzyme Q10 Deficiency, Primary, 2
Obesity OMIM:614651
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia, Hyperparathyroidism ORPHA:93160
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Increased body weight ORPHA:276608
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Septate vagina, Vaginal atresia, Parathyroid hypoplasia, Uterus didelphys, Diabetes... ORPHA:2237
Neuroleptic Malignant Syndrome
Hypocalcemia, Thrombocytosis, Leukocytosis, Hypernatremia, Hyponatremia, Hyperuricemia, Elevated ... ORPHA:94093
Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Hypothyroidism, Hypocalcemic tetany, Elevated circulating parathyroid h... OMIM:103580
Hypocalcemic Vitamin D-Dependent Rickets
Hypophosphatemia, Hypocalcemia, Elevated circulating parathyroid hormone level, Secondary hyperpa... ORPHA:289157
Lesch-Nyhan Syndrome
Megaloblastic anemia, Hyperuricosuria, Testicular atrophy, Hyperuricemia OMIM:300322
Pseudohypoparathyroidism Type 1A
Hypocalcemia, Oligomenorrhea, Pseudohypoparathyroidism, Hypergonadotropic hypogonadism, Hypocalce... ORPHA:79443
Sarcoidosis
Parotitis, Enlarged lacrimal glands, Hemolytic anemia, Increased T cell count, Abnormal reproduct... ORPHA:797
Cholera
Hypocalcemia, Hyponatremia, Abnormal blood ion concentration, Hypokalemia, Spontaneous abortion ORPHA:173
Pearson Syndrome
Hypophosphatemia, Hypocalcemia, Reticulocytosis, Hypothyroidism, Neutropenia, Pancreatic fibrosis... ORPHA:699
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Cryptorchidism, Hypocalcemia, Hyperbilirubinemia, Thrombocytopenia, Anemia, Hypospadias, Absent g... ORPHA:163979
Diphallia
Cryptorchidism, Bifid scrotum, Penoscrotal transposition, Ectopic scrotum, Hypospadias, Bifid pen... ORPHA:227
Eisenmenger Syndrome
Iron deficiency anemia, Hypochromic microcytic anemia, Hyperuricemia, Elevated circulating C-reac... ORPHA:97214
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Elevated circulating luteinizing hormone level, Lacrimal gland hypoplasia, Oligomenorrhea, Hyperg... ORPHA:572333
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased body weight, Abdominal obesity OMIM:615954
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
Double Outlet Right Ventricle
Hypocalcemia, Hypoparathyroidism, Aplasia/Hypoplasia of the thymus ORPHA:3426
Abdominal Obesity-Metabolic Syndrome 3
Truncal obesity, Abdominal obesity OMIM:615812
Castleman Disease
Thrombocytopenia, Decreased mean corpuscular volume, Elevated circulating C-reactive protein conc... ORPHA:160
Acrodysostosis With Multiple Hormone Resistance
Cryptorchidism, Hypocalcemia, Pseudohypoparathyroidism, Congenital hypothyroidism, Elevated circu... ORPHA:280651
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Elevated circulating creatinine concentration, Increased circulating metamyelocyte ... ORPHA:36234
Fanconi Anemia, Complementation Group A
Hypergonadotropic hypogonadism, Cryptorchidism, Male infertility OMIM:227650
Williams Syndrome
Cryptorchidism, Hypothyroidism, Elevated circulating creatine kinase concentration, Cholelithiasi... ORPHA:904
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypocalcemia, Hypouricemia, Hypothyroidism, Elevated circulating creatinine con... ORPHA:411634
Autosomal Dominant Kenny-Caffey Syndrome
Abnormal circulating follicle-stimulating hormone concentration, Hypocalcemic tetany, Congenital ... ORPHA:93325
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Increased circulating free fatty acid level, Elevated circulating ... ORPHA:26793
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypocalcemia, Small scrotum, Pancytopenia, Hypoalbuminemia, Anemia, Bile duct proliferation OMIM:613658
Gitelman Syndrome
Iron deficiency anemia, Hypocalcemia, Hypomagnesemia, Maternal diabetes, Graves disease, Hypermag... ORPHA:358
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia, Hypoparathyroidism ORPHA:746
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Overgrowth, Large for gestational age, Small for gestational age ORPHA:254534
Tubular Renal Disease-Cardiomyopathy Syndrome
Hypomagnesemia, Hypocalcemia, Hypocalcemic tetany, Hyperaldosteronism ORPHA:73224
Alström Syndrome
Hyoplasia of the Leydig cells, Puberty and gonadal disorders, Hyperinsulinemia, Oligospermia, Hyp... ORPHA:64
Autosomal Dominant Hypocalcemia
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia ORPHA:428
Craniofacioskeletal Syndrome
Cryptorchidism, Absent gallbladder, Hypocalcemia, Hypospadias OMIM:300712
Proprotein Convertase 1/3 Deficiency
Obesity OMIM:600955
Smith-Magenis Syndrome
Increased body weight OMIM:182290
Sotos Syndrome
Cryptorchidism, Hydrocele testis, Hypothyroidism, Decreased fertility, Hypercalcemia, Congenital ... ORPHA:821
Ataxia-Telangiectasia
Female hypogonadism, Hypoplasia of the thymus, Delayed puberty, Diabetes mellitus, Abnormal sperm... OMIM:208900
Infection-Related Hemolytic Uremic Syndrome
Hypocalcemia, Hemolytic anemia, Leukocytosis, Hyponatremia, Thrombocytopenia, Diabetes mellitus, ... ORPHA:544482
Velocardiofacial Syndrome
Cryptorchidism, Hypoparathyroidism, Hypocalcemia OMIM:192430
Wilson Disease
Failure to thrive, Increased body weight, Weight loss ORPHA:905
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Cryptorchidism, Ambiguous genitalia, Bifid scrotum, Chordee, Elevated circulating 17-hydroxyproge... OMIM:201750
Williams-Beuren Syndrome
Early onset of sexual maturation, Hypothyroidism, Urethral stenosis, Hypercalcemia, Diabetes mell... OMIM:194050
Wiedemann-Rautenstrauch Syndrome
Cryptorchidism, Long penis, Flexion contracture, Generalized amyotrophy, Hypospadias, Increased s... OMIM:264090
Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Increased body weight ORPHA:263455
Cartilage-Hair Hypoplasia
Hypocalcemia, Neutropenia, Anemia ORPHA:175
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Ethylene Glycol Poisoning
Hypocalcemia, Hyperkalemia ORPHA:31826
Ciliary Dyskinesia, Primary, 1
Male infertility, Abnormal respiratory motile cilium morphology OMIM:244400
Insulinoma
Increased body weight ORPHA:97279
Familial Primary Hypomagnesemia With Normocalciuria And Normocalcemia
Obesity ORPHA:34527
Primary Ciliary Dyskinesia
Female infertility, Abnormal sperm motility, Male infertility ORPHA:244
22Q11.2 Deletion Syndrome
Cryptorchidism, Hypocalcemia, Abnormality of the uterus, Hypothyroidism, Cholelithiasis, Thromboc... ORPHA:567
Bloom Syndrome
Azoospermia, Oligospermia, Diabetes mellitus, Male infertility, Premature ovarian insufficiency ORPHA:125
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased body weight OMIM:615830
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Thrombocytopenia, Elevated circulating creatine kinase concentration, Hyperkalemia,... ORPHA:466650
Wiedemann-Rautenstrauch Syndrome
Cryptorchidism, Camptodactyly of finger, Skeletal muscle hypertrophy, Increased serum testosteron... ORPHA:3455
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Hypocalcemia, Anemia, Splenomegaly ORPHA:667
Pseudoleprechaunism Syndrome, Patterson Type
Premature adrenarche, Increased circulating androgen concentration, Diabetes mellitus ORPHA:2976
Charge Syndrome
Cryptorchidism, Hypocalcemia, Labial hypoplasia, Hypothyroidism, Lymphopenia, Aplasia/Hypoplasia ... OMIM:214800
Cystinosis, Nephropathic
Male hypogonadism, Delayed puberty, Primary hypothyroidism, Diabetes mellitus, Skeletal muscle at... OMIM:219800
Hennekam Syndrome
Hypocalcemia, Lymphopenia, Splenomegaly ORPHA:2136
Johanson-Blizzard Syndrome
Urethrovaginal fistula, Cryptorchidism, Hypocalcemia, Hypothyroidism, Increased VLDL cholesterol ... OMIM:243800
Magel2-Related Prader-Willi-Like Syndrome
Increased body weight, Failure to thrive, Abdominal obesity ORPHA:398069
Digeorge Syndrome
Hypocalcemia, Decreased circulating parathyroid hormone level, Hypothyroidism, Cholelithiasis, Pa... OMIM:188400
Cranioectodermal Dysplasia 1
Hypocalcemia OMIM:218330
Visceral Steatosis, Congenital
Hypocalcemia OMIM:228100
Noonan Syndrome 1
Cryptorchidism, Hypogonadism, Male infertility, Hypospadias OMIM:163950
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Increased body weight, Failure to thrive ORPHA:264580
Hellp Syndrome
Increased body weight ORPHA:244242
Cystic Fibrosis
Male infertility OMIM:219700

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for 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.

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

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