Gene Summary

Name:
gamma-aminobutyric acid (GABA) A receptor, subunit beta 1
Synonyms:
Gabrb-1,  B230208N19Rik

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
preweaning lethality, incomplete penetrance Gabrb1tm1b(KOMP)Wtsi HOM   Early adult 0.00
increased bone mineral density Gabrb1tm1b(KOMP)Wtsi HOM   Early adult 8.37×10-05

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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.

Phenotype associated images not available

Human diseases caused by Gabrb1 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.

The table below shows human diseases associated to Gabrb1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Developmental And Epileptic Encephalopathy 45
Hypoplasia of the corpus callosum, Hypsarrhythmia OMIM:617153

The table below shows human diseases predicted to be associated to Gabrb1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pyknoachondrogenesis
Stillbirth, Increased bone mineral density OMIM:265880
Ribbing Disease
Diaphyseal sclerosis OMIM:601477
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Buschke-Ollendorff Syndrome
Flexion contracture, Joint stiffness, Osteopoikilosis OMIM:166700
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Osteomalacia, Sclerosing, With Cerebral Calcification
Osteomalacia, Generalized osteosclerosis, Increased bone mineral density OMIM:259660
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility, Reduced circulating prolactin concentration OMIM:264110
Functioning Gonadotropic Adenoma
Pituitary hypothyroidism, Delayed puberty, Decreased female libido, Pituitary gonadotropic cell a... ORPHA:91348
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Secondary amenorrhea, Premature ovarian insufficiency OMIM:619245
Post-Traumatic Pituitary Deficiency
Panhypopituitarism, Infertility, Decreased circulating ACTH level, Amenorrhea, Pituitary hypothyr... ORPHA:95619
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Craniodiaphyseal Dysplasia
Cranial hyperostosis, Facial hyperostosis, Diaphyseal sclerosis OMIM:218300
Distal Osteosclerosis
Hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis OMIM:126250
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Non-Functioning Pituitary Adenoma
Male hypogonadism, Pituitary hypothyroidism, Decreased fertility in females, Adrenocorticotropin ... ORPHA:91349
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Streak ovary, Primary a... OMIM:612310
Pituicytoma
Abnormality of the pituitary gland, Memory impairment, Amenorrhea, Pituicytoma, Abnormality of ci... ORPHA:251623
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Hypogonadotropic Hypogonadism 23 Without Anosmia
Androgen insufficiency, Ovarian cyst, Abnormality of the Leydig cells, Oligomenorrhea, Micropenis... OMIM:228300
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Craniosynostosis, Increased bone mineral density OMIM:241520
Pituitary Hormone Deficiency, Combined, 2
Panhypopituitarism, Hypothyroidism, Adrenal insufficiency, Reduced circulating prolactin concentr... OMIM:262600
Panhypophysitis
Pituitary hypothyroidism, Abnormality of the posterior pituitary, Abnormal size of pituitary glan... ORPHA:95513
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Hypothyroidism, Central, With Testicular Enlargement
Reduced circulating prolactin concentration, Hypothyroidism, Inappropriately normal thyroid-stimu... OMIM:300888
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Gangliocytoma
Abnormality of the pituitary gland, Elevated circulating growth hormone concentration, Polyphagia... ORPHA:251937
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology ORPHA:3416
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615271
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Anterior hypopituitarism, Breast hypoplasia, Absence of secondary sex characteristics, Primary am... ORPHA:2235
Adenohypophysitis
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Amenorrhea, Decreased ci... ORPHA:95512
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Prolactin Deficiency With Obesity And Enlarged Testes
Reduced circulating prolactin concentration, Macroorchidism OMIM:264120
Ane Syndrome
Abnormal response to ACTH stimulation test, Hypogonadotropic hypogonadism, Adrenocorticotropin de... ORPHA:157954
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Panhypopituitarism, Hypothyroidism, Decreased response to growth hormone stimuation test OMIM:300123
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Generalized osteosclerosis, Abnormal cortical bo... ORPHA:2790
Ring Chromosome Y Syndrome
Cryptorchidism, Ambiguous genitalia, Male hypogonadism, Azoospermia, Ambiguous genitalia, male, U... ORPHA:261529
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Generalized osteosclerosis, Thickened cortex of long bones OMIM:607634
Bonnemann-Meinecke-Reich Syndrome
Microcephaly, EEG abnormality, Cerebral calcification, Decreased response to growth hormone stimu... ORPHA:1261
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Micropenis, Dec... OMIM:308750
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density OMIM:166740
Osteoporosis
Osteoporosis OMIM:166710
Flynn-Aird Syndrome
Osteoporosis, Joint stiffness, Increased bone density with cystic changes, Increased bone mineral... OMIM:136300
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Central hypothyroidism, Decreas... ORPHA:453533
Isolated Growth Hormone Deficiency, Type Ib
Decreased response to growth hormone stimuation test OMIM:612781
Melorheostosis
Ectopic ossification in muscle tissue, Increased bone mineral density, Hyperostosis, Joint stiffn... ORPHA:2485
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Azoospermia, Mi... OMIM:308700
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Pituitary Dwarfism With Large Sella Turcica
Hypothyroidism, Decreased response to growth hormone stimuation test OMIM:262710
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Joint stiffness, Thickened cortex of bones, Arthritis ORPHA:564003
Isolated Growth Hormone Deficiency, Type Ia
Impaired growth-hormone response to insulin stimulation test, Decreased response to growth hormon... OMIM:262400
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Sclerosteosis
Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density ORPHA:3152
Pituitary Apoplexy
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Abnormal... ORPHA:95613
Premature Ovarian Failure 1
Irregular menstruation, Increased circulating gonadotropin level, Premature ovarian insufficiency OMIM:311360
Premature Ovarian Failure 17
Elevated circulating luteinizing hormone level, Decreased antimullerian hormone level, Decreased ... OMIM:619146
Sheehan Syndrome
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Amenorrhea, Oligomenorrh... ORPHA:91355
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... ORPHA:566943
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Hyperostosi... OMIM:144750
Isolated Growth Hormone Deficiency, Type Ii
Decreased response to growth hormone stimuation test OMIM:173100
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Resistance To Thyrotropin-Releasing Hormone Syndrome
Decreased circulating T4 level, Pituitary hypothyroidism, Decreased circulating free T3, Increase... ORPHA:99832
Premature Ovarian Failure 9
Increased circulating gonadotropin level, Premature ovarian insufficiency, Amenorrhea OMIM:615724
Leptin Receptor Deficiency
Polyphagia, Abnormal hypothalamus morphology, Hypergonadotropic hypogonadism, Pituitary hypothyro... OMIM:614963
Premature Ovarian Failure 16
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Premature ova... OMIM:618723
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Recurrent fractures, Osteopetrosis, Generalized osteosclerosis, Fractures of ... OMIM:166600
Isolated Osteopoikilosis
Generalized osteosclerosis ORPHA:166119
Non-Acquired Panhypopituitarism
Infertility, Decreased circulating ACTH level, Ectopic anterior pituitary gland, Amenorrhea, Abse... ORPHA:90695
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Male hypogonadism, Azoospermia, Hyperplasia of the Leydig cells, Bilater... ORPHA:52901
Arthrogryposis, distal, with hypopituitarism, mental retardation,and facial anomalies
Anterior hypopituitarism, Decreased response to growth hormone stimuation test OMIM:208080
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Primary amenorrhea, Sec... OMIM:612964
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Urogenital sinus anomaly, Vanishing testis, Decre... OMIM:273250
Meningioma
Enlarged pituitary gland, Pituitary hypothyroidism, Memory impairment, Neoplasm of the posterior ... ORPHA:2495
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal hypoplasia, Polyphagia, Decreased response to growth hormone stimuation test, Adrenal ins... OMIM:609734
Familial Hyperprolactinemia
Infertility, Amenorrhea, Oligomenorrhea, Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia ORPHA:397685
Hypergonadotropic Hypogonadism-Cataract Syndrome
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:2410
Premature Ovarian Failure 18
Elevated circulating luteinizing hormone level, Irregular menstruation, Decreased antimullerian h... OMIM:619203
Obesity Due To Prohormone Convertase I Deficiency
Hyperinsulinemia, Polyphagia, Pituitary hypothyroidism, Decreased response to growth hormone stim... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hyperinsulinemia, Polyphagia, Pituitary hypothyroidism, Decreased response to growth hormone stim... ORPHA:71526
Isolated Growth Hormone Deficiency, Type Iv
Anterior pituitary hypoplasia, Impaired growth-hormone response to insulin stimulation test, Decr... OMIM:618157
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Generalized osteosclerosis, Advanced tarsal ossification, ... OMIM:215045
Joubert Syndrome 26
Panhypopituitarism, Central hypothyroidism, Micropenis, Decreased response to growth hormone stim... OMIM:616784
Isolated Growth Hormone Deficiency, Type V
Microcephaly, Decreased response to growth hormone stimuation test OMIM:618160
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Panhypopituitarism, Decreased circulating ACTH level, Decreased circulating follicle stimulating ... ORPHA:226307
Intermediate Osteopetrosis
Cortical sclerosis, Recurrent fractures, Generalized osteosclerosis, Osteosclerosis of the base o... ORPHA:210110
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Oligomenorrhea, Impotence, Hypopituitarism, Pituitary hypothyroidism, Adrenocorticotropic hormone... ORPHA:91354
Premature Ovarian Failure 8
Increased circulating gonadotropin level, Ovarian neoplasm, Premature ovarian insufficiency, Prim... OMIM:615723
Oliver-Mcfarlane Syndrome
Cryptorchidism, Delayed puberty, Hypoplasia of penis, Hypogonadotropic hypogonadism, Decreased re... OMIM:275400
Axial Osteomalacia
Osteomalacia, Increased bone mineral density OMIM:109130
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis OMIM:615198
Dysplastic Cortical Hyperostosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2204
Craniodiaphyseal Dysplasia, Autosomal Dominant
Cortical sclerosis, Craniofacial osteosclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis OMIM:122860
Non-Acquired Isolated Growth Hormone Deficiency
Anterior hypopituitarism ORPHA:631
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Infertility, Male hypogonadism, Increased circulating gonadotropin level, Abnormal vagina morphol... ORPHA:168563
Premature Ovarian Failure 5
Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea OMIM:611548
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Aplasia of the uterus, Abnormal circulating fol... ORPHA:99429
Gnathodiaphyseal Dysplasia
Osteopenia, Increased susceptibility to fractures, Osteomyelitis, Diaphyseal cortical sclerosis OMIM:166260
Panhypopituitarism, X-Linked
Panhypopituitarism OMIM:312000
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemi... OMIM:619326
Combined Pituitary Hormone Deficiencies, Genetic Forms
Infertility, Decreased circulating ACTH level, Ectopic anterior pituitary gland, Amenorrhea, Abse... ORPHA:95494
Carney Complex
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Adrenoco... ORPHA:1359
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Azoospermia, Hypothyroidism, Primary amenorrhea, ... OMIM:612885
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Cryptorchidism, Decreased testicular size, Hypoplasia of the uterus, Decreased circulating gonado... OMIM:614841
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency OMIM:300511
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Cryptorchidism, Azoospermia, Hypoplasia of the uterus, Primary amenorrhea, Hypogonadotropic hypog... OMIM:614837
Gonadoblastoma
Ambiguous genitalia, Abnormality of the ovary, Dysgerminoma, Female external genitalia in individ... ORPHA:206484
Ovarian Dysgenesis 1
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea OMIM:233300
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Increased circulating gonadotropin level, Azoospermia, Non-obstructive azoospermia, Obstructive a... ORPHA:399805
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Abnormal circulating dehydroepiandrosterone concentration, Abnormal response to ACTH stimulation ... ORPHA:90793
Paget Disease Of Bone 3
Osteolysis, Fractures of the long bones, Patchy osteosclerosis OMIM:167250
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Hyperostosis cranialis interna, Increased bone mineral density OMIM:231095
Ovarian Dysgenesis 2
Gonadal hypoplasia, Abnormality of the uterus, Hypergonadotropic hypogonadism, Hypoplasia of the ... OMIM:300510
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Hypothalamic luteinizing hormone-releasing hormone deficiency, Pituitary hypothyroidism, Decrease... ORPHA:231720
46,Xx Testicular Disorder Of Sex Development
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Pituitary Dermoid And Epidermoid Cysts
Panhypopituitarism, Oligomenorrhea, Amenorrhea, Oligospermia, Enlarged pituitary gland, Neoplasm ... ORPHA:91351
Prolactinoma
Male hypogonadism, Elevated circulating growth hormone concentration, Pituitary hypothyroidism, D... ORPHA:2965
Endocardial Fibroelastosis
Cognitive impairment, Cryptorchidism, Anterior hypopituitarism, Hypoplasia of penis ORPHA:2022
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Hydatidiform Mole, Recurrent, 4
Female infertility, Recurrent spontaneous abortion OMIM:618432
Pituitary Carcinoma
Pituitary growth hormone cell adenoma, Elevated circulating growth hormone concentration, Pituita... ORPHA:300385
Hypogonadism-Cataract Syndrome
Elevated circulating follicle stimulating hormone level, Infertility, Hypogonadism, Male hypogona... OMIM:240950
46,Xy Sex Reversal 1
Abnormality of the menstrual cycle, Ambiguous genitalia, Elevated circulating luteinizing hormone... OMIM:400044
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Polyphagia, Hypergonadotropic hypogonadism, Decreased t... ORPHA:66628
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Increased bone mineral density OMIM:265800
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Hypogonadism, Abnormality of the ovary ORPHA:1875
Leydig Cell Hypoplasia
Cryptorchidism, Male hypogonadism, Abnormal internal genitalia, Secondary amenorrhea, Micropenis,... ORPHA:755
Pseudohypoparathyroidism Type 1C
Polyphagia, Oligomenorrhea, Pseudohypoparathyroidism, Hypergonadotropic hypogonadism, Basal gangl... ORPHA:79444
Plin1-Related Familial Partial Lipodystrophy
Infertility, Hyperinsulinemia, Oligomenorrhea, Polycystic ovaries, Abnormal circulating hormone c... ORPHA:280356
4H Leukodystrophy
Dysphagia, Hypoplasia of the corpus callosum, Delayed puberty, Hyperintensity of cerebral white m... ORPHA:289494
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Cerebral calcification, Decreased response to growth hormone stimuation test OMIM:225755
Leydig Cell Hypoplasia, Type I
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level OMIM:238320
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Polyphagia, Hypergonadotropic hypogonadism, Decreased t... ORPHA:179494
Pituitary Adenoma 1, Multiple Types
Pituitary growth hormone cell adenoma, Increased serum insulin-like growth factor 1, Prolactinoma... OMIM:102200
Oocyte Maturation Defect 10
Female infertility, Spontaneous abortion OMIM:619176
Ovarian Fibrothecoma
Abnormality of the ovary, Abnormality of the endometrium, Metrorrhagia, Gonadal calcification, Ab... ORPHA:314478
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Oligomenorrhea, Hypopl... OMIM:615300
Mehmo Syndrome
Male hypogonadism, Hypoplasia of the corpus callosum, Delayed puberty, Microcephaly, Micropenis, ... OMIM:300148
Pituitary Hormone Deficiency, Combined, 3
Anterior pituitary hypoplasia, Decreased response to growth hormone stimuation test, Anterior hyp... OMIM:221750
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Decreased response to growth hormone stimuation test OMIM:615925
Osteogenesis Imperfecta, Type Xiii
Osteoporosis, Joint hypermobility, Increased bone mineral density OMIM:614856
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of cervical vertebral bodies, Absent ossification of calvaria, Neonatal death... OMIM:601376
X-Linked Acrogigantism
Increased serum insulin-like growth factor 1, Abnormality of the pituitary gland, Elevated circul... ORPHA:300373
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Increased circulating gonadotropin level, Non-obstructive azoospermia, Decreased... ORPHA:399808
46,Xy Partial Gonadal Dysgenesis
Cryptorchidism, Abnormal internal genitalia, Delayed puberty, Female external genitalia in indivi... ORPHA:251510
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Buschke-Ollendorff Syndrome
Craniosynostosis, Flexion contracture, Recurrent fractures, Generalized osteosclerosis, Osteopoik... ORPHA:1306
Spermatogenic Failure 28
Decreased testicular size, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:618086
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Male infertility, Micropenis, Elevated circulating luteinizing hormone leve... ORPHA:90797
Pseudohypoparathyroidism Type 1A
Polyphagia, Oligomenorrhea, Pseudohypoparathyroidism, Hypergonadotropic hypogonadism, Basal gangl... ORPHA:79443
Combined Oxidative Phosphorylation Deficiency 25
Cerebral atrophy, Decreased response to growth hormone stimuation test OMIM:616430
46,Xy Sex Reversal 3
Ambiguous genitalia, Elevated circulating luteinizing hormone level, Exaggerated rugosity of the ... OMIM:612965
Septopreoptic Holoprosencephaly
Abnormality of the septum pellucidum, Anterior hypopituitarism, Dysphagia, Megalencephaly, Abnorm... ORPHA:280195
Asherman Syndrome
Infertility, Decreased fertility in females, Abnormality of the menstrual cycle, Oligomenorrhea, ... ORPHA:137686
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
Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Blind vagina, Labial hypoplasia, Primary amenorrh... OMIM:300068
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Cryptorchidism, Decreased circulating T4 level, Central hypothyroidism, Scrotal hypoplasia, Decre... ORPHA:98754
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Cryptorchidism, Decreased circulating T4 level, Central hypothyroidism, Scrotal hypoplasia, Decre... ORPHA:98793
Premature Ovarian Failure 11
Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Oligomenorrhea OMIM:616946
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Limitation of joint mobility, Abnormal vertebral segmentation and fus... ORPHA:90650
Schnitzler Syndrome
Arthritis, Increased bone mineral density ORPHA:37748
Premature Ovarian Failure 14
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:618014
Perrault Syndrome 6
Irregular menstruation, Hypoplasia of the uterus, Streak ovary, Primary amenorrhea, Secondary ame... OMIM:617565
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Cryptorchidism, Decreased circulating T4 level, Central hypothyroidism, Scrotal hypoplasia, Decre... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Cryptorchidism, Decreased circulating T4 level, Central hypothyroidism, Scrotal hypoplasia, Decre... ORPHA:177901
46,Xx Ovotesticular Disorder Of Sex Development
Cryptorchidism, Ambiguous genitalia, Abnormal morphology of female internal genitalia, Abnormalit... ORPHA:2138
Temple Syndrome
Cryptorchidism, Polyphagia, Type II diabetes mellitus, Precocious puberty, Decreased response to ... ORPHA:254516
46,Xx Gonadal Dysgenesis
Increased circulating gonadotropin level, Streak ovary, Primary amenorrhea, Aplasia/hypoplasia of... ORPHA:243
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Cryptorchidism, Adrenal hypoplasia, Hypospadias, Micropenis, Decreased response to growth hormone... OMIM:614732
Blepharophimosis, Ptosis, And Epicanthus Inversus
Increased circulating gonadotropin level, Amenorrhea, Irregular menstruation, Hypoplasia of the u... OMIM:110100
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Abnormal testis morphology, Hypothyroidis... ORPHA:1227
Polyembryoma
Irregular menstruation, Increased serum testosterone level, Macroorchidism, Increased serum serot... ORPHA:180229
Chromosome Xq26.3 Duplication Syndrome
Increased serum insulin-like growth factor 1, Elevated circulating growth hormone concentration, ... OMIM:300942
Osteopetrosis, Autosomal Recessive 1
Craniosynostosis, Osteopetrosis, Increased bone mineral density, Pathologic fracture, Calvarial o... OMIM:259700
Prader-Willi-Like Syndrome
Cryptorchidism, Decreased circulating T4 level, Central hypothyroidism, Scrotal hypoplasia, Decre... ORPHA:398073
Spondyloepiphyseal Dysplasia Tarda
Limited wrist movement, Localized osteoporosis, Osteoarthritis of the distal interphalangeal join... ORPHA:93284
Premature Ovarian Failure 3
Secondary amenorrhea, Hypoplasia of the uterus, Premature ovarian insufficiency OMIM:608996
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Elevated circulating luteinizing hormone level, Lacrimal gland hypoplasia, Oligomenorrhea, Hyperg... ORPHA:572333
Ovarian Dysgenesis 8
Hypoplastic labia majora, Elevated circulating follicle stimulating hormone level, Elevated circu... OMIM:618187
Dysosteosclerosis
Coarse metaphyseal trabecularization, Craniofacial hyperostosis, Recurrent fractures, Increased b... ORPHA:1782
Myasthenic Syndrome, Congenital, 22
Decreased response to growth hormone stimuation test OMIM:616224
Tsh-Secreting Pituitary Adenoma
Euthyroid hyperthyroxinemia, Male hypogonadism, Elevated circulating growth hormone concentration... ORPHA:91347
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Oligomenorrhea, Amenorrhea, Polycystic ovaries, Menorrhagia, Abnormalit... ORPHA:2795
Prader-Willi Syndrome
Cryptorchidism, Central hypothyroidism, Scrotal hypoplasia, Decreased circulating gonadotropin co... ORPHA:739
Diastrophic Dwarfism
Joint hyperflexibility, Joint stiffness, Camptodactyly of finger, Increased bone mineral density ORPHA:628
Albers-Schönberg Osteopetrosis
Recurrent fractures, Generalized osteosclerosis, Mandibular osteomyelitis, Osteoarthritis, Osteom... ORPHA:53
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Decreased response to growth hormone stimuation test OMIM:245590
Woodhouse-Sakati Syndrome
Mental deterioration, Hyperinsulinemia, Hypothyroidism, Decreased testicular size, Micropenis, Hy... ORPHA:3464
Diethylstilbestrol Syndrome
Cryptorchidism, Decreased fertility in females, Abnormality of the uterus, Abnormal reproductive ... ORPHA:1916
Septooptic Dysplasia
Absent septum pellucidum, Anterior pituitary hypoplasia, Diabetes insipidus, Agenesis of corpus c... OMIM:182230
Frasier Syndrome
Increased circulating gonadotropin level, Ambiguous genitalia, male, Hypergonadotropic hypogonadi... ORPHA:347
Pallister-Hall Syndrome
Cryptorchidism, Scrotal hypoplasia, Pituitary hypothyroidism, Decreased testicular size, Micropen... ORPHA:672
Osteopetrosis, Autosomal Recessive 2
Recurrent fractures, Osteopetrosis, Cranial hyperostosis, Mandibular osteomyelitis, Osteomyelitis... OMIM:259710
Short Stature-Wormian Bones-Dextrocardia Syndrome
Cognitive impairment, Cryptorchidism, Midshaft hypospadias, Anterior hypopituitarism ORPHA:2863
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Decreased serum insulin-like growth factor 1, Hypoplasia of the corpus callosum, Ectopic posterio... ORPHA:67045
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Azoospermia, Hypergonadotropic hypogonadism, Delayed puberty, Decreased testicular size, Decrease... ORPHA:280679
Adrenocortical Carcinoma
Abnormal circulating dehydroepiandrosterone concentration, Paradoxical increased cortisol secreti... ORPHA:1501
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Dysplastic corpus callosum, Ambiguous genitalia, Anterior hypopituitarism OMIM:601016
Boomerang Dysplasia
Cryptorchidism, Decreased response to growth hormone stimuation test ORPHA:1263
Precocious Puberty, Central, 1
Hypothyroidism, Elevated circulating follicle stimulating hormone level, Elevated circulating lut... OMIM:176400
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Testicular dysgenesis, Male pseudohermaphroditism, Polycystic ovaries ORPHA:242
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Microcephaly, Agenesis of corpus callosum, Decreased response to growth hormone stimuation test OMIM:615286
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
Paget Disease Of Bone 5, Juvenile-Onset
Osteoporosis, Recurrent fractures, Ankylosis, Increased bone mineral density OMIM:239000
Kallmann Syndrome
Cryptorchidism, Abnormal morphology of female internal genitalia, Breast hypoplasia, Erectile dys... ORPHA:478
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed patellar ossification, Abnormal bone ossification, Increased bone mineral density ORPHA:163649
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Ambiguous genitalia, Increased circulating androstenedione concentration, Long penis, Premature p... ORPHA:90795
Pituitary Deficiency Due To Rathke Cleft Cysts
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Enlarged pituitary gland... ORPHA:91350
Hypotonia-Cystinuria Syndrome
Hypergonadotropic hypogonadism, Polyphagia, Decreased response to growth hormone stimuation test OMIM:606407
Aromatase Deficiency
Cryptorchidism, Hypergonadotropic hypogonadism, Primary amenorrhea, Female infertility, Type II d... ORPHA:91
Galloway-Mowat Syndrome 6
Hypothyroidism, Microcephaly, Decreased response to growth hormone stimuation test OMIM:618347
Juberg-Hayward Syndrome
Microcephaly, Decreased response to growth hormone stimuation test OMIM:216100
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Abnormal vagina morphology, Hypoplasia of the uterus, Primary amenorrhe... ORPHA:247768
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteomyelitis leading to amputation due to slow healing fractures, Diaphyseal cortical sclerosis,... OMIM:112250
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Decreased testicular size, Azoospermia, Decreased response to gro... OMIM:300845
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Thin bony cortex, Increased bone mineral density ORPHA:85184
Pseudohypoparathyroidism Type 1B
Increased bone density with cystic changes, Diaphyseal sclerosis, Increased bone mineral density ORPHA:94089
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis OMIM:615085
Beemer-Ertbruggen Syndrome
Increased bone mineral density ORPHA:1237
Tetragametic Chimerism
Cryptorchidism, Abnormality of the ovary, Ambiguous genitalia, Ovotestis, Abnormality of the scro... ORPHA:199310
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Insulin-resistant... ORPHA:90301
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Panhypopituitarism, Dysphagia, Hypothyroidism, Hypoplasia of the corpus callosum, Cerebral atroph... OMIM:618922
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Abnormality of the menstrual cycle, Goiter, Abnormal calcium-phosphate regulating hormone level, ... ORPHA:457059
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, ... ORPHA:79085
African Trypanosomiasis
Abnormality of renin-angiotensin system, Abnormal growth hormone level, Infertility, Abnormality ... ORPHA:3385
Rhyns Syndrome
Anterior hypopituitarism, Pituitary hypothyroidism, Decreased response to growth hormone stimuati... OMIM:602152
Testicular Agenesis
Urethrovaginal fistula, Ambiguous genitalia, Increased circulating gonadotropin level, Absent tes... ORPHA:325124
Boucher-Neuhauser Syndrome
Hypogonadotropic hypogonadism, Decreased circulating gonadotropin concentration OMIM:215470
Osteopetrosis With Renal Tubular Acidosis
Reduced bone mineral density, Recurrent fractures, Osteopetrosis ORPHA:2785
Osteopathia Striata-Cranial Sclerosis Syndrome
Coarse metaphyseal trabecularization, Facial hyperostosis, Osteopetrosis, Increased bone mineral ... ORPHA:2780
Majeed Syndrome
Flexion contracture, Synovitis, Increased bone mineral density, Increased susceptibility to fract... ORPHA:77297
Hypertriglyceridemia 1
Hypopituitarism OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypopituitarism OMIM:144600
Noonan Syndrome 12
Decreased response to growth hormone stimuation test OMIM:618624
Acth Deficiency, Isolated
Decreased circulating cortisol level, Adrenal hypoplasia, Adrenocorticotropic hormone deficiency OMIM:201400
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Decreased testicular size, Microcephaly, Micropenis, Decreased response to growth hormone stimuat... ORPHA:457240
Satoyoshi Syndrome
Abnormality of the ovary, Abnormality of the uterus, Nephrogenic diabetes insipidus, Amenorrhea, ... ORPHA:3130
Tricho-Dento-Osseous Syndrome
Increased bone mineral density ORPHA:3352
46,Xx Sex Reversal 1
Ovotestis, Elevated circulating luteinizing hormone level, Azoospermia, Sex reversal, Bicornuate ... OMIM:400045
Maternal Uniparental Disomy Of Chromosome 2
Chordee, Hypothyroidism, Bilateral cryptorchidism, Hypospadias, Spontaneous abortion, Premature o... ORPHA:96179
Autosomal Recessive Hypophosphatemic Rickets
Craniosynostosis, Abnormal trabecular bone morphology, Hypophosphatemic rickets, Enthesitis, Incr... ORPHA:289176
Prader-Willi Syndrome
Infertility, Cryptorchidism, Hyperinsulinemia, Polyphagia, Oligomenorrhea, Scrotal hypoplasia, Pr... OMIM:176270
Kearns-Sayre Syndrome
Anterior hypopituitarism ORPHA:480
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Congenital hypothyroidism, Hypoplasia of penis, Decreased response to growth hormone stimuation test OMIM:601427
Cidec-Related Familial Partial Lipodystrophy
Decreased serum leptin, Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, ... ORPHA:435651
Aromatase Deficiency
Hypergonadotropic hypogonadism, Ovarian cyst, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
Webb-Dattani Syndrome
Cryptorchidism, Hypoplasia of the corpus callosum, Secondary microcephaly, Pituitary hypothyroidi... OMIM:615926
Osteopetrosis, Autosomal Recessive 4
Recurrent fractures, Osteopetrosis OMIM:611490
Pituitary Adenoma 2, Growth Hormone-Secreting
Elevated circulating growth hormone concentration, Pituitary adenoma OMIM:300943
Dysosteosclerosis
Sclerosis of hand bone, Clavicular sclerosis, Increased susceptibility to fractures, Sclerotic sc... OMIM:224300
Gaucher Disease Type 1
Osteolysis, Increased bone mineral density, Pathologic fracture, Osteopenia, Osteoarthritis ORPHA:77259
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Osteopetrosis OMIM:617306
X-Linked Hypohidrotic Ectodermal Dysplasia
Hypohidrosis, Type I diabetes mellitus, Anterior hypopituitarism ORPHA:181
Culler-Jones Syndrome
Cryptorchidism, Hypopituitarism, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Diab... OMIM:615849
Multiple Endocrine Neoplasia Type 4
Hyperinsulinemic hypoglycemia, Elevated circulating growth hormone concentration, Increased circu... ORPHA:276152
Silver-Russell Syndrome 1
Urethral valve, Testicular seminoma, Congenital posterior urethral valve, Hypospadias, Decreased ... OMIM:180860
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency
Bilateral cryptorchidism, Congenital adrenal hypoplasia, Hypospadias, Microcephaly, Micropenis, D... OMIM:618336
Pallister-Hall-Like Syndrome
Hypothalamic hamartoma, Micropenis, Anterior hypopituitarism OMIM:241800
Gomez-Lopez-Hernandez Syndrome
Cognitive impairment, Decreased response to growth hormone stimuation test OMIM:601853
Nelson Syndrome
Increased urinary cortisol level, Secondary hypercortisolism, Increased circulating cortisol leve... ORPHA:199244
Autoimmune Hypoparathyroidism
Increased bone mineral density ORPHA:36913
Craniopharyngioma
Polyphagia, Abnormal hypothalamus morphology, Enlarged pituitary gland, Pituitary hypothyroidism,... ORPHA:54595
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimuation test ORPHA:436174
Srd5A3-Cdg
Hypothyroidism, Decreased response to growth hormone stimuation test ORPHA:324737
Rhyns Syndrome
Hypopituitarism ORPHA:140976
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Cryptorchidism, Hypoplasia of the corpus callosum, Congenital hypoparathyroidism, Microcephaly, M... OMIM:241410
Alstrom Syndrome
Hyperinsulinemia, Multinodular goiter, Hypergonadotropic hypogonadism, Hypothyroidism, Irregular ... OMIM:203800
Ritscher-Schinzel Syndrome 1
Hypospadias, Adrenal hypoplasia, Decreased response to growth hormone stimuation test OMIM:220210
Mccune-Albright Syndrome
Ovarian cyst, Abnormal endocrine physiology, Hyperplasia of the Leydig cells, Elevated circulatin... ORPHA:562
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Abnormal circulating dehydroepiandrosterone concentration, Abnormal response to ACTH stimulation ... ORPHA:90794
Ovarian Fibroma
Ovarian fibroma, Abnormality of the ovary, Gonadal calcification ORPHA:314473
Camurati-Engelmann Disease
Cortical thickening of long bone diaphyses, Sclerosis of skull base, Diaphyseal sclerosis, Increa... OMIM:131300
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating ACTH level, Decreased circulating androgen concentration, Adrenocorticotrop... ORPHA:293978
Late-Onset Isolated Acth Deficiency
Decreased circulating ACTH level, Adrenocorticotropin deficient adrenal insufficiency, Graves dis... ORPHA:199299
Dysostosis, Stanescu Type
Massively thickened long bone cortices, Increased bone mineral density ORPHA:1798
Cohen Syndrome
Microcephaly, Delayed puberty, Thick corpus callosum, Decreased response to growth hormone stimua... OMIM:216550
Fanconi Anemia, Complementation Group W
Microcephaly, Abnormal periventricular white matter morphology, Decreased response to growth horm... OMIM:617784
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal response to ACTH stimulation test, Cryptorchidism, Abnormal response to human chorionic ... ORPHA:95699
Williams-Beuren Region Duplication Syndrome
Cryptorchidism, Hypoplasia of the corpus callosum, Decreased response to growth hormone stimuatio... OMIM:609757
Acrodysostosis 1 With Or Without Hormone Resistance
Decreased growth hormone responses to growth hormone-releasing hormone challenge, Cryptorchidism,... OMIM:101800
Intellectual Disability-Strabismus Syndrome
Cryptorchidism, Hypohidrosis, Decreased serum insulin-like growth factor 1, Hypothyroidism, Hypop... ORPHA:363528
Ovarian Hyperstimulation Syndrome
Ovarian cyst, Increased circulating gonadotropin level, Hemorrhagic ovarian cyst, Enlarged polycy... ORPHA:64739
Fanconi Anemia, Complementation Group I
Agenesis of corpus callosum, Absent septum pellucidum, Hypothyroidism, Microcephaly, Colpocephaly... OMIM:609053
Solitary Median Maxillary Central Incisor
Microcephaly, Anterior hypopituitarism, Decreased response to growth hormone stimuation test OMIM:147250
15Q24 Microdeletion Syndrome
Cryptorchidism, Microphallus, Hypospadias, Microcephaly, Decreased response to growth hormone sti... ORPHA:94065
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis OMIM:612840
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Cerebral cortical atrophy, Hypsarrhythmia, Central adrenal insufficiency, Decreased response to g... OMIM:616007
Immunodeficiency, Common Variable, 10
Abnormal response to ACTH stimulation test, Central adrenal insufficiency, Decreased response to ... OMIM:615577
Multiple Endocrine Neoplasia, Type Iv
Pancreatic endocrine tumor, Elevated circulating growth hormone concentration, Hypothyroidism, Ca... OMIM:610755
Raine Syndrome
Neonatal death, Arthrogryposis multiplex congenita, Increased bone mineral density OMIM:259775
Triple A Syndrome
Adrenal insufficiency, Microcephaly, Anterior hypopituitarism ORPHA:869
X-Linked Hypophosphatemia
Craniosynostosis, Rickets, Generalized osteosclerosis, Enthesitis, Reduced bone mineral density, ... ORPHA:89936
45,X/46,Xy Mixed Gonadal Dysgenesis
Cryptorchidism, Chordee, Abnormal internal genitalia, Delayed puberty, Epispadias, Male infertili... ORPHA:1772
Deeah Syndrome
Panhypopituitarism, Cryptorchidism, Hypohidrosis, Exocrine pancreatic insufficiency, Dysphagia, D... OMIM:619004
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Osteopetrosis, Diaphyseal sclerosis OMIM:259730
Werner Syndrome
Osteoporosis, Joint stiffness, Increased bone mineral density ORPHA:902
Otopalatodigital Syndrome Type 2
Camptodactyly of finger, Tarsal synostosis, Synostosis of carpal bones, Increased bone mineral de... ORPHA:90652
Poems Syndrome
Sclerosis of hand bone, Sclerosis of skull base, Sclerosis of foot bone ORPHA:2905
Desmosterolosis
Osteopetrosis, Increased bone mineral density ORPHA:35107
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Compensated hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Decre... OMIM:610978
Lenz-Majewski Hyperostotic Dwarfism
Joint hyperflexibility, Elbow ankylosis, Osteopetrosis, Abnormal cortical bone morphology, Increa... ORPHA:2658
Tbck-Related Intellectual Disability Syndrome
Cryptorchidism, EEG with generalized epileptiform discharges, Abnormal periventricular white matt... ORPHA:488632
Acrootoocular Syndrome
Choking episodes, Microcephaly, Decreased response to growth hormone stimuation test ORPHA:2980
Acromelic Frontonasal Dysostosis
Cryptorchidism, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Hypopituitarism OMIM:603671
Osteopetrosis, Autosomal Recessive 5
Osteopetrosis, Stillbirth OMIM:259720
Trichothiodystrophy
Osteopenia, Craniosynostosis, Multiple joint contractures, Increased bone mineral density ORPHA:33364
Schwartz-Jampel Syndrome
Osteoporosis, Arthrogryposis multiplex congenita, Flexion contracture of toe, Increased bone mine... ORPHA:800
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
Decreased response to growth hormone stimuation test OMIM:264475
Steinert Myotonic Dystrophy
Male hypogonadism, Cerebral cortical atrophy, Ovarian carcinoma, Hypergonadotropic hypogonadism, ... ORPHA:273
Rajab Interstitial Lung Disease With Brain Calcifications 2
Microcephaly, Hypopituitarism, Periventricular cysts, Hypothyroidism OMIM:619013
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis OMIM:618476
Congenital Hypothyroidism
Goiter, Hypothyroidism, Abnormality of reproductive system physiology, Abnormality of the thyroid... ORPHA:442
Gaucher Disease
Arthrogryposis multiplex congenita, Osteolysis, Recurrent fractures, Increased bone mineral densi... ORPHA:355
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimuation test OMIM:615873
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Hypothyroidism, Hypoplasia of the corpus callosum, Delayed puberty, Microcephaly, Decreased respo... OMIM:619234
Primary Ciliary Dyskinesia
Female infertility, Abnormal sperm motility, Male infertility ORPHA:244
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
16P12.1P12.3 Triplication Syndrome
Bilateral cryptorchidism, Decreased response to growth hormone stimuation test ORPHA:485405
12Q14 Microdeletion Syndrome
Osteopoikilosis ORPHA:94063
Acquired Aneurysmal Subarachnoid Hemorrhage
Progressive neurologic deterioration, Hypothyroidism, Hypopituitarism, Cognitive impairment, Memo... ORPHA:90065
Chromosome 18Q Deletion Syndrome
Cryptorchidism, Abnormal cerebral white matter morphology, Hypospadias, Microcephaly, Micropenis,... OMIM:601808
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Prostatitis, Delayed puberty, Epididymitis, Decreased response to growth hormone stimuation test OMIM:307200
Acrodysostosis With Multiple Hormone Resistance
Cryptorchidism, Pseudohypoparathyroidism, Congenital hypothyroidism, Elevated circulating parathy... ORPHA:280651
Gaucher Disease Type 3
Osteolysis, Increased susceptibility to fractures, Increased bone mineral density ORPHA:77261
Snakebite Envenomation
Pseudobulbar paralysis, Neuromuscular dysphagia, Hypopituitarism ORPHA:449285
Pallister-Hall Syndrome
Panhypopituitarism, Cryptorchidism, Hypothalamic hamartoma, Adrenal hypoplasia, Decreased circula... OMIM:146510
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Gonadotropin deficiency, Hypohidrosis, Polyphagia, Premature adrenarche, Central hypothyroidism, ... ORPHA:293987
Kenny-Caffey Syndrome, Type 2
Thickened cortex of long bones, Increased bone mineral density OMIM:127000
Somatomammotropinoma
Pituitary growth hormone cell adenoma, Elevated circulating growth hormone concentration, Amenorr... ORPHA:314769
Hyperoxaluria, Primary, Type I
Pathologic fracture, Increased bone mineral density OMIM:259900
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Cryptorchidism, Oral aversion, Premature adrenarche, Hyperhidrosis, Hypospadias, Precocious puber... ORPHA:96182
Turner Syndrome Due To Structural X Chromosome Anomalies
Abnormality of the ovary, Increased circulating gonadotropin level, Hyperinsulinemia, Gonadoblast... ORPHA:99413
Turner Syndrome
Abnormality of the ovary, Increased circulating gonadotropin level, Hyperinsulinemia, Gonadoblast... ORPHA:881
Mosaic Monosomy X
Abnormality of the ovary, Increased circulating gonadotropin level, Hyperinsulinemia, Gonadoblast... ORPHA:99228
Monosomy X
Abnormality of the ovary, Increased circulating gonadotropin level, Hyperinsulinemia, Gonadoblast... ORPHA:99226
Erdheim-Chester Disease
Osteolysis, Osteomyelitis, Increased bone mineral density ORPHA:35687
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Nephrogenic diabetes insipidus, Vaginal atresia, Decreased testicular s... OMIM:209900
Meier-Gorlin Syndrome 6
Cryptorchidism, Hypoplastic labia majora, Delayed puberty, Simplified gyral pattern, Microcephaly... OMIM:616835
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Increased bone mineral density ORPHA:50945
Fanconi Anemia, Complementation Group F
Microphallus, Cryptorchidism, Microcephaly, Decreased response to growth hormone stimuation test OMIM:603467
Congenital Factor Vii Deficiency
Ovarian cyst, Menorrhagia ORPHA:327
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Hypoplasia of the corpus callosum, Microcephaly, Agenesis of corpus callosum, Decreased response ... OMIM:617260
Spondyloenchondrodysplasia
Abnormal periventricular white matter morphology, Hypothyroidism, Cerebral calcification, Abnorma... ORPHA:1855
Wiedemann-Steiner Syndrome
Dysphagia, Psychomotor deterioration, Abnormal corpus callosum morphology, Microcephaly, Decrease... ORPHA:319182
Ichthyosis And Male Hypogonadism
Hypogonadotropic hypogonadism, Male hypogonadism, Gonadotropin deficiency OMIM:308200
Acromegaly
Pituitary growth hormone cell adenoma, Elevated circulating growth hormone concentration, Long pe... ORPHA:963
Cleidocranial Dysplasia
Delayed pubic bone ossification, Increased susceptibility to fractures, Increased bone mineral de... OMIM:119600
Holoprosencephaly 9
Panhypopituitarism, Cryptorchidism, Partial agenesis of the corpus callosum, Anterior pituitary a... OMIM:610829
Desmosterolosis
Arthrogryposis multiplex congenita, Generalized osteosclerosis, Joint contracture of the hand OMIM:602398
Microform Holoprosencephaly
Panhypopituitarism, Ambiguous genitalia, Maternal diabetes, Hypothyroidism, Hypoplasia of penis, ... ORPHA:280200
Sanjad-Sakati Syndrome
Patchy osteosclerosis ORPHA:2323
Brain-Lung-Thyroid Syndrome
Abnormal drinking behavior, Cavum septum pellucidum, Compensated hypothyroidism, Agenesis of corp... ORPHA:209905
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Hashimoto thyroiditis, Decreased response to growth hormone stimuation test OMIM:618223
Mosaic Variegated Aneuploidy Syndrome 2
Hypothyroidism, Microcephaly, Decreased response to growth hormone stimuation test OMIM:614114
Histiocytosis-Lymphadenopathy Plus Syndrome
Azoospermia, Hypergonadotropic hypogonadism, Pancreatic hypoplasia, Type I diabetes mellitus, Mic... OMIM:602782
Acromelic Frontonasal Dysplasia
Cryptorchidism, Hypopituitarism, Anterior pituitary hypoplasia, Hypoplasia of the olfactory bulb,... ORPHA:1827
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Cryptorchidism, Chordee, Dysphagia, Hypothyroidism, Hypoplasia of the corpus callosum, Shawl scro... ORPHA:268261
Prader-Willi Syndrome Due To Translocation
External genital hypoplasia, Anterior pituitary hypoplasia, Cerebral cortical atrophy, Hypogonado... ORPHA:177907
Atypical Werner Syndrome
Osteoporosis, Sclerosis of hand bone, Increased bone mineral density, Osteolytic defects of the p... ORPHA:79474
Koolen-De Vries Syndrome Due To A Point Mutation
Cryptorchidism, Agenesis of corpus callosum, EEG with focal epileptiform discharges, Primary adre... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Cryptorchidism, Agenesis of corpus callosum, EEG with focal epileptiform discharges, Primary adre... ORPHA:363958
Sclerosteosis 1
Cortically dense long tubular bones, Facial palsy secondary to cranial hyperostosis, Sclerotic sc... OMIM:269500
Eec Syndrome
Urethral atresia, Hypohidrosis, Hypoplasia of the thymus, Xerostomia, Hypospadias, Anterior hypop... ORPHA:1896
Xq21 Microdeletion Syndrome
Anterior hypopituitarism, Pituitary hypothyroidism, Decreased response to growth hormone stimuati... ORPHA:1435
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome
Hypoplasia of the corpus callosum, Shawl scrotum, Supernumerary nipple, Microcephaly, Decreased r... OMIM:213980
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Cryptorchidism, Transverse vaginal septum, Hypoplastic nipples, Xerostomia, Urethral stenosis, Ab... OMIM:604292
Monosomy 18Q
Diffuse white matter abnormalities, Hypothyroidism, Bilateral cryptorchidism, Microcephaly, Micro... ORPHA:1600
Holoprosencephaly
Cryptorchidism, Panhypopituitarism, Aplasia/Hypoplasia of the corpus callosum, Hypoplasia of peni... ORPHA:2162
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Cryptorchidism, Transverse vaginal septum, Hypoplastic nipples, Xerostomia, Rectovaginal fistula,... OMIM:129900
Semilobar Holoprosencephaly
Panhypopituitarism, Abnormality of the endocrine system, Dysphagia, Central hypothyroidism, Abnor... ORPHA:220386
Alobar Holoprosencephaly
Panhypopituitarism, Abnormality of the endocrine system, Dysphagia, Central hypothyroidism, Abnor... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Panhypopituitarism, Abnormality of the endocrine system, Dysphagia, Central hypothyroidism, Abnor... ORPHA:93926
Lobar Holoprosencephaly
Panhypopituitarism, Abnormality of the endocrine system, Dysphagia, Central hypothyroidism, Abnor... ORPHA:93924
Primary Hyperoxaluria
Recurrent fractures, Generalized osteosclerosis ORPHA:416
Pearson Syndrome
Exocrine pancreatic insufficiency, Dysphagia, Hypothyroidism, Pancreatic fibrosis, Adrenal insuff... ORPHA:699
Williams Syndrome
Osteoporosis, Joint laxity, Radioulnar synostosis, Synostosis of joints, Joint hyperflexibility, ... ORPHA:904
Shwachman-Diamond Syndrome
Exocrine pancreatic insufficiency, Hypopituitarism, Pancreatic hypoplasia, Diabetes mellitus, Dec... ORPHA:811
Dominant Beta-Thalassemia
Hypothyroidism, Hypopituitarism, Adrenal insufficiency, Delayed puberty, Diabetes mellitus, Hypop... ORPHA:231226
Charge Syndrome
Cryptorchidism, Hypoplastic male external genitalia, Dysphagia, Hypothyroidism, Arrhinencephaly, ... OMIM:214800
Hypoplasminogenemia
Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis ORPHA:722
Hartsfield Syndrome
Cryptorchidism, Hypospadias, Diabetes insipidus, Microcephaly, Micropenis, Agenesis of corpus cal... OMIM:615465
Osteopetrosis, Autosomal Recessive 7
Osteopetrosis, Abnormal trabecular bone morphology OMIM:612301
Frontorhiny
Diabetes insipidus, Lipoma of corpus callosum, Aplasia/Hypoplasia of the corpus callosum, Hypopit... ORPHA:391474
Autosomal Dominant Kenny-Caffey Syndrome
Decreased testicular size, Basal ganglia calcification, Abnormal circulating follicle-stimulating... ORPHA:93325
Beta-Thalassemia Major
Hypothyroidism, Hypopituitarism, Adrenal insufficiency, Delayed puberty, Diabetes mellitus, Hypop... ORPHA:231214
Developmental And Epileptic Encephalopathy 45
Hypoplasia of the corpus callosum, Hypsarrhythmia OMIM:617153
Witteveen-Kolk Syndrome
Cryptorchidism, Microphallus, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Hypo... OMIM:613406
Lysinuric Protein Intolerance
Cognitive impairment, Pancreatitis, Oral aversion, Decreased response to growth hormone stimuatio... ORPHA:470
Autosomal Recessive Malignant Osteopetrosis
Reduced bone mineral density, Craniosynostosis, Recurrent fractures, Osteopetrosis ORPHA:667
Gabriele-De Vries Syndrome
Cryptorchidism, Breast hypoplasia, Hypothyroidism, Hypoplasia of the corpus callosum, Abnormal ce... ORPHA:506358
Charge Syndrome
Cryptorchidism, Abnormal morphology of female internal genitalia, Bifid scrotum, Delayed puberty,... ORPHA:138
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Sclerosis of skull base, Thickened cortex of long bones OMIM:269150
Wiedemann-Rautenstrauch Syndrome
Cryptorchidism, Agenesis of corpus callosum, Increased serum estradiol, Decreased response to gro... ORPHA:3455
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypospadias, Hypothyroidism, Microcephaly, Decreased response to growth hormone stimuation test ORPHA:444077
Microphthalmia, Syndromic 6
Cryptorchidism, Small scrotum, Adrenal hypoplasia, Aplasia/Hypoplasia of the corpus callosum, Abn... OMIM:607932
Isolated Biliary Atresia
Hypothyroidism, Bile duct proliferation, Hypopituitarism, Atretic gallbladder ORPHA:30391
Alström Syndrome
Decreased circulating T4 level, Elevated circulating thyroid-stimulating hormone concentration, T... ORPHA:64
Holoprosencephaly 7
Panhypopituitarism, Fusion of the left and right thalami, Agenesis of corpus callosum OMIM:610828
Axenfeld-Rieger Syndrome, Type 1
Hypospadias, Decreased response to growth hormone stimuation test OMIM:180500
Peters Plus Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the corpus callosum, Hypoplasia of the uterus, Clitoral hyp... ORPHA:709

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 Gabrb1

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 Gabrb1.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Silencing of spontaneous activity at α4β1/3δ GABAA receptors in hippocampal granule cells reveals different ligand pharmacology. British journal of pharmacology (July 2020) Gabrb1tm1d(KOMP)Wtsi 32484592

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MGI Allele Allele Type Produced
Gabrb1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Gabrb1tm1b(KOMP)Wtsi Reporter-tagged deletion allele (post-Cre) Mice, Tissue
Gabrb1tm42794(L1L2_hubi_P) Targeting vectors
Gabrb1tm42794(L1L2_Bact_P) Targeting vectors

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