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Gene: Pou1f1 MGI:97588

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Gene Summary

Name:
POU domain, class 1, transcription factor 1
Synonyms:
GHF-1,  Hmp1,  Pit1,  Pit1-rs1,  Pit-1

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Pou1f1em1(IMPC)Bay HOM   Early adult 0.00
preweaning lethality, complete penetrance Pou1f1em1(IMPC)Bay HOM Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Pou1f1 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 Pou1f1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... ORPHA:226307
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Anterior pituitary hypoplasia, Reduced circulating p... OMIM:613038
Combined Pituitary Hormone Deficiencies, Genetic Forms
Septo-optic dysplasia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Anterior pi... ORPHA:95494

The table below shows human diseases predicted to be associated to Pou1f1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pituitary Adenoma 5, Multiple Types
Pituitary adenoma OMIM:617540
Adenohypophysitis
Orthostatic hypotension, Decreased circulating cortisol level, Decreased female libido, Reduced c... ORPHA:95512
Panhypophysitis
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... ORPHA:95513
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Otodental Dysplasia
Delayed eruption of teeth, Agenesis of premolar, Sensorineural hearing impairment, Tooth ankylosi... OMIM:166750
Otodental Syndrome
High-frequency sensorineural hearing impairment, Delayed eruption of teeth, Abnormal dental ename... ORPHA:2791
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Cerebellar hy... OMIM:604213
Post-Traumatic Pituitary Deficiency
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c... ORPHA:95619
Endocardial Fibroelastosis
Low-set, posteriorly rotated ears, Micrognathia, Cryptorchidism, Abnormal helix morphology, Anter... ORPHA:2022
Ane Syndrome
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Anterior pituitary h... ORPHA:157954
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Spermatogenic Failure 14
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... OMIM:615842
Sheehan Syndrome
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... ORPHA:91355
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Pituicytoma
Hypopituitarism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ... ORPHA:251623
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Decreased response to growth hormone stimulation test OMIM:615925
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility, Reduced circulating prolactin concentration OMIM:264110
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... OMIM:262600
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation, Anterior hypopituitarism, Hearing impairment ORPHA:480
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... ORPHA:226307
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Abnormality of the philtrum, Micrognathia, Cryptorchidism, Tooth agene... ORPHA:2863
48,Xxyy Syndrome
Delayed eruption of teeth, Broad jaw, Hypergonadotropic hypogonadism, Abnormal dental enamel morp... ORPHA:10
Amelogenesis Imperfecta
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... ORPHA:88661
Hypothyroidism, Central, With Testicular Enlargement
Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Inappropriately normal t... OMIM:300888
Isolated Growth Hormone Deficiency, Type Iv
Impaired growth-hormone response to insulin stimulation test, Decreased serum insulin-like growth... OMIM:618157
Meningioma
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th... ORPHA:2495
Gangliocytoma
Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent... ORPHA:251937
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Anterior pituitary hypoplasia, Reduced circulating p... OMIM:613038
Pituitary Adenoma 1, Multiple Types
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... OMIM:102200
Pituitary Carcinoma
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... ORPHA:300385
Mehmo Syndrome
Decreased response to growth hormone stimulation test, Cleft lip, Cleft palate, Widely spaced tee... OMIM:300148
Pituitary Hormone Deficiency, Combined, 3
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Sensorineur... OMIM:221750
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Sensorineur... ORPHA:231720
X-Linked Intellectual Disability, Van Esch Type
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... ORPHA:163976
Perrault Syndrome 1
Cerebellar atrophy, Increased circulating gonadotropin level, Sensorineural hearing impairment, P... OMIM:233400
Rhyns Syndrome
Hypopituitarism, Hearing impairment ORPHA:140976
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Dentin Dysplasia, Type I
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... OMIM:125400
Opticocochleodentate Degeneration
Optic atrophy, Cochlear degeneration, Hearing impairment OMIM:258700
Oligodontia
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
Pituitary Apoplexy
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:95613
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Diabetes mellitus, Abnormal dental enamel morphology, Abnormality of the dentition, Sensorineural... ORPHA:3220
Triple A Syndrome
Generalized hyperpigmentation, Sensorineural hearing impairment, Optic atrophy, Adrenal insuffici... ORPHA:869
Isolated Growth Hormone Deficiency, Type Ib
Reduced circulating growth hormone concentration, Decreased response to growth hormone stimulatio... OMIM:612781
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Sensorineural hearing impairment, Prelingu... ORPHA:436174
Rapp-Hodgkin Syndrome
Supernumerary nipple, Conical tooth, Hypoplasia of the maxilla, Cleft upper lip, Velopharyngeal i... OMIM:129400
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone con... ORPHA:99832
Pseudohypoparathyroidism Type 1A
Delayed eruption of teeth, Hypergonadotropic hypogonadism, Decreased response to growth hormone s... ORPHA:79443
Smith-Magenis Syndrome
Mandibular prognathia, Tented upper lip vermilion, Delayed eruption of primary teeth, Micrognathi... ORPHA:819
Combined Pituitary Hormone Deficiencies, Genetic Forms
Septo-optic dysplasia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Anterior pi... ORPHA:95494
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Eec Syndrome
Decreased response to growth hormone stimulation test, Abnormal dental enamel morphology, Externa... ORPHA:1896
48,Xxxy Syndrome
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, C... ORPHA:96263
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Delayed eruption of teeth, Hypopigmentation of hair, Macrodontia, High, narrow palate, Sensorineu... ORPHA:3214
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:90695
Joubert Syndrome 23
Dysplastic corpus callosum, Cerebellar dysplasia OMIM:616490
X-Linked Intellectual Disability, Cilliers Type
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... ORPHA:163971
Xq21 Microdeletion Syndrome
Stapes ankylosis, Decreased response to growth hormone stimulation test, Dilatated internal audit... ORPHA:1435
49,Xxxxy Syndrome
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, C... ORPHA:96264
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Goiter, Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of t... OMIM:600791
49,Xxxyy Syndrome
Low-set, posteriorly rotated ears, Mandibular prognathia, Abnormality of the testis size, Microgn... ORPHA:261534
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Sensorineural hearing impairment, Cleft lip, Prima... OMIM:612702
Amelogenesis Imperfecta, Type Ia
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta OMIM:104530
Joubert Syndrome 26
Decreased response to growth hormone stimulation test, Cleft lip, Cleft palate, Central hypothyro... OMIM:616784
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Premature ... ORPHA:280679
Orthostatic Hypotension 1
Orthostatic hypotension, High palate, Reduced circulating prolactin concentration, Retrograde eja... OMIM:223360
Non-Acquired Isolated Growth Hormone Deficiency
Anterior hypopituitarism ORPHA:631
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Panhypopituitarism, Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:300123
Rhyns Syndrome
Decreased response to growth hormone stimulation test, Sensorineural hearing impairment, Pituitar... OMIM:602152
Snijders Blok-Campeau Syndrome
Taurodontia, High palate, Widely spaced teeth, Low-set ears, Enamel hypoplasia OMIM:618205
Pituitary Adenoma 2, Growth Hormone-Secreting
Pituitary adenoma, Elevated circulating growth hormone concentration OMIM:300943
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Sen... OMIM:614129
Isolated Growth Hormone Deficiency, Type Ii
Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te... OMIM:173100
Bonnemann-Meinecke-Reich Syndrome
Decreased response to growth hormone stimulation test, Micrognathia ORPHA:1261
46,Xx Gonadal Dysgenesis
Streak ovary, Premature ovarian insufficiency, Increased circulating gonadotropin level, Decrease... ORPHA:243
Momo Syndrome
Delayed eruption of teeth, Underfolded helix, Abnormality of the thyroid gland, Thick lower lip v... ORPHA:2563
49,Xyyyy Syndrome
Low-set, posteriorly rotated ears, Decreased testicular size, Abnormality of the testis size, Mic... ORPHA:99330
Momo Syndrome
Delayed eruption of teeth, Underfolded helix, Thick lower lip vermilion, Dental malocclusion, Tau... OMIM:157980
Deafness, Autosomal Dominant 9
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... OMIM:601369
Prolactinoma
Male hypogonadism, Hypogonadotropic hypogonadism, Vertigo, Decreased fertility in males, Delayed ... ORPHA:2965
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Micrognathia, Anteverted ears, Conical tooth, Aplasia of the inner ear, Widely spaced teeth, Micr... OMIM:610706
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... OMIM:300845
Acrootoocular Syndrome
Delayed eruption of teeth, Decreased response to growth hormone stimulation test, Hyperpigmented ... ORPHA:2980
Pituitary Dwarfism With Large Sella Turcica
Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:262710
Panhypopituitarism, X-Linked
Panhypopituitarism OMIM:312000
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ... OMIM:615300
Nance-Horan Syndrome
Diastema, Screwdriver-shaped incisors, Mulberry molar, Supernumerary maxillary incisor, Macrotia OMIM:302350
Srd5A3-Cdg
Cerebellar atrophy, Decreased response to growth hormone stimulation test, Optic atrophy, Oligodo... ORPHA:324737
Cranioectodermal Dysplasia 4
Thin vermilion border, Taurodontia, Smooth philtrum, Protruding ear OMIM:614378
Trichodentoosseous Syndrome
Microdontia, Taurodontia, Widely spaced teeth OMIM:190320
Tooth Agenesis, Selective, 9
Microdontia, Taurodontia, Selective tooth agenesis OMIM:617275
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Decreased response to growth hormone stimulation test, Abnormality of the dentition, Cryptorchidi... ORPHA:3363
Oliver-Mcfarlane Syndrome
Central heterochromia, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimul... OMIM:275400
Pseudohypoparathyroidism Type 1C
Delayed eruption of teeth, Hypergonadotropic hypogonadism, Decreased response to growth hormone s... ORPHA:79444
Williams-Beuren Region Duplication Syndrome
Decreased response to growth hormone stimulation test, Micrognathia, Diastema, Cryptorchidism, Hi... OMIM:609757
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Cryptorchidism, Adrenal hypoplasia, Decreased response to growth hormone stimulation test, Low-se... OMIM:614732
Atkin-Flaitz Syndrome
Abnormality of the dentition, Thick vermilion border, Everted lower lip vermilion, Macroorchidism... ORPHA:1193
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... ORPHA:71526
Pallister-Hall Syndrome
Adrenal hypoplasia, Gonadotropin deficiency, Bifid uvula, Low-set, posteriorly rotated ears, Micr... ORPHA:672
Hypergonadotropic Hypogonadism-Cataract Syndrome
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of secondary se... ORPHA:2410
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypogonadotropic hypogonadis... ORPHA:478
Cranioectodermal Dysplasia
Abnormal dental enamel morphology, Abnormality of the dentition, Taurodontia, Everted lower lip v... ORPHA:1515
Tooth Agenesis, Selective, 7
Taurodontia, Agenesis of permanent teeth OMIM:616724
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Decreased response to growth hormone stimulation test, Precocious puberty, Pituitary adenoma, Adr... ORPHA:91354
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Recurrent otitis media, Decreased response to growth hormone stimulation test, Brain atrophy OMIM:615286
Mccune-Albright Syndrome
Craniofacial hyperostosis, Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth horm... OMIM:174800
Ackerman Syndrome
Taurodontia, Broad philtrum OMIM:200970
Cerebellofaciodental Syndrome
Cryptorchidism, Dental malocclusion, Taurodontia, Low-set ears, Macrodontia of permanent maxillar... OMIM:616202
Hypotonia-Cystinuria Syndrome
Tented upper lip vermilion, Hypergonadotropic hypogonadism, Posteriorly rotated ears, Facial pals... OMIM:606407
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l... OMIM:619924
Oculodentodigital Dysplasia
Mandibular prognathia, Median cleft lip, Abnormal dental enamel morphology, Premature loss of pri... ORPHA:2710
Immunodeficiency 102
Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Leukopenia, De... OMIM:301082
15Q24 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Abnormality of the dentition, Cryptorchidi... ORPHA:94065
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Decreased testicular size, Macrotia, High palate, Decreased response to growth hormone stimulatio... ORPHA:457240
47,Xyy Syndrome
Male infertility, Cryptorchidism, Increased circulating gonadotropin level, Oligozoospermia, Azoo... ORPHA:8
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... ORPHA:199306
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Elevated circulating growt... ORPHA:300373
Intellectual Developmental Disorder, Autosomal Dominant 21
Posteriorly rotated ears, Cryptorchidism, Cleft palate, Thin vermilion border, Low-set ears, Narr... OMIM:615502
4H Leukodystrophy
Cerebellar atrophy, Delayed eruption of teeth, Hypogonadotropic hypogonadism, Abnormality of thyr... ORPHA:289494
Insulin-Like Growth Factor I Deficiency
Decreased serum insulin-like growth factor 1, Sensorineural hearing impairment, Elevated circulat... OMIM:608747
X-Linked Hypohidrotic Ectodermal Dysplasia
Delayed eruption of teeth, Everted upper lip vermilion, Hypohidrosis, Everted lower lip vermilion... ORPHA:181
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Thin upper lip vermilion, Posteriorly rotated ears, Decreased response to growth hormone stimulat... OMIM:241410
Craniopharyngioma
Papilledema, Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pi... ORPHA:54595
Amelogenesis Imperfecta, Type Ic
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... OMIM:204650
16P12.1P12.3 Triplication Syndrome
Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, High, narrow pal... ORPHA:485405
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Thin upper lip vermilion, Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoosperm... ORPHA:2232
Holoprosencephaly 9
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Hypoplasia ... OMIM:610829
Premature Ovarian Failure 1
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation OMIM:311360
Oculodentodigital Dysplasia
Abnormal pinna morphology, Selective tooth agenesis, Cleft upper lip, Carious teeth, Cleft palate... OMIM:164200
Dyskeratosis Congenita
Neoplasm of the pancreas, Diabetes mellitus, Hypermelanotic macule, Abnormality of the dentition,... ORPHA:1775
Multiple Endocrine Neoplasia, Type I
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Pituitary adeno... OMIM:131100
Cerebellar-Facial-Dental Syndrome
Micrognathia, Cryptorchidism, Dental malocclusion, Alveolar ridge overgrowth, Taurodontia, Low-se... ORPHA:444072
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Stenosis of the external auditory canal, Abnormality of the dentition, Decreased response to grow... OMIM:601427
Orofaciodigital Syndrome Type 2
Natal tooth, Median cleft lip, Hamartoma of tongue, Micrognathia, Submucous cleft soft palate, Un... ORPHA:2751
Taurodontism
Taurodontia OMIM:272700
Intellectual Disability-Strabismus Syndrome
Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te... ORPHA:363528
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency
Posteriorly rotated ears, Decreased response to growth hormone stimulation test, Micrognathia, Bi... OMIM:618336
Gomez-Lopez-Hernandez Syndrome
Posteriorly rotated ears, Decreased response to growth hormone stimulation test, Thin vermilion b... OMIM:601853
Joubert Syndrome 38
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Posteriorly rotated ea... OMIM:619476
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Acrodysostosis 1 With Or Without Hormone Resistance
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Cryptorchidism, Elev... OMIM:101800
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... ORPHA:52901
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Hydrocele testis, Notched primary central incisor, Low-set ears OMIM:620062
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Cerebellar atrophy, Decreased response to growth hormone stimulation test, Hypothyroidism, Cerebr... OMIM:618922
Oculocerebrorenal Syndrome Of Lowe
Mandibular prognathia, Hyperparathyroidism, Dental crowding, Micrognathia, Deep philtrum, Gingivi... ORPHA:534
Agammaglobulinemia 10, Autosomal Dominant
Type I diabetes mellitus, Transient neutropenia, Absent circulating B cells OMIM:619707
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, Agenesis of incisor, Tau... ORPHA:3352
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth OMIM:104510
Leukodystrophy, Hypomyelinating, 24
B lymphocytopenia, Hypothyroidism OMIM:619851
Premature Ovarian Failure 17
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Decreased inhibi... OMIM:619146
Pycnodysostosis
Obtuse angle of mandible, Decreased serum insulin-like growth factor 1, Decreased response to gro... ORPHA:763
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Central adrenal insufficiency, Hypogonadotropic hypogonadism, Small pituitary gland, Delayed puberty OMIM:612079
Ritscher-Schinzel Syndrome 1
Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Micrognathia, Cleft pa... OMIM:220210
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Cu... OMIM:110100
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... ORPHA:399808
Frontorhiny
Low-set, posteriorly rotated ears, Diabetes insipidus, Hypoplasia of the maxilla, Hypoplastic fro... ORPHA:391474
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... OMIM:610978
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... OMIM:229070
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Primary amenorrhea OMIM:233300
Immunodeficiency 62
Increased proportion of transitional B cells, Decreased proportion of memory B cells, B lymphocyt... OMIM:618459
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... ORPHA:91347
Mpdu1-Cdg
Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te... ORPHA:79323
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Abnormal pinna morphology, Abnormality of the anterior pituitary, Posterior pituitary hypoplasia,... ORPHA:75389
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Hypogonadism, Hyperpituitarism, Ant... ORPHA:91351
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Delayed eruption of teeth, Posteriorly rotated ears, Decreased response to growth hormone stimula... OMIM:615866
Alstrom Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Diabetes i... OMIM:203800
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Schimke Immuno-Osseous Dysplasia
Abnormality of thyroid physiology, Hypermelanotic macule, Abnormal primary molar morphology, Mult... ORPHA:1830
Immunodeficiency 76
Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia OMIM:619164
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit... ORPHA:91350
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Cleft upper lip, Bilateral cryptorchidism, Crypto... OMIM:305400
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Small pituitary gland OMIM:614880
Galloway-Mowat Syndrome 6
Cerebellar atrophy, Decreased response to growth hormone stimulation test, Downturned corners of ... OMIM:618347
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Hypereosinophilia, Abnormal proportion of CD8-positive T cells, Abnormal n... OMIM:212050
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Decreased response to growth hormone stimulation test, Oligodontia, Progressive hearing impairmen... OMIM:619234
Septopreoptic Holoprosencephaly
Precocious puberty, Anterior hypopituitarism, Central diabetes insipidus, Perisylvian polymicrogyria ORPHA:280195
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Increased circulating gonadotropin level, Testicular dysgenesis, Primary amenorrhea... ORPHA:168563
Chromosome Xq27.3-Q28 Duplication Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Thin vermilion border, Hypogonadism, De... OMIM:300869
Hypogonadism-Cataract Syndrome
Male hypogonadism, Hypogonadism, Elevated circulating follicle stimulating hormone level, Inferti... OMIM:240950
Chromosome 18Q Deletion Syndrome
Mandibular prognathia, U-Shaped upper lip vermilion, Thin upper lip vermilion, Decreased response... OMIM:601808
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... OMIM:620303
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Giant Axonal Neuropathy
Abnormal pituitary gland morphology ORPHA:643
Somatomammotropinoma
Mandibular prognathia, Broad jaw, Diabetes mellitus, Hypogonadotropic hypogonadism, Generalized h... ORPHA:314769
Developmental And Epileptic Encephalopathy 108
Small pituitary gland OMIM:620115
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Conical tooth, Hypohidrosis, Recurrent sinusitis, Recurrent otitis media, Hypopituitarism ORPHA:98813
Premature Ovarian Failure 16
Reduced antral follicle count, Premature ovarian insufficiency, Decreased serum estradiol, Elevat... OMIM:618723
Trichothiodystrophy 5, Nonphotosensitive
Mandibular prognathia, Optic nerve hypoplasia, Wide mouth, Widely spaced primary teeth, Panhypopi... OMIM:300953
Pallister-Hall-Like Syndrome
Median cleft lip, Micrognathia, Microglossia, Cleft palate, Hypothalamic hamartoma, Anterior hypo... OMIM:241800
Deeah Syndrome
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Cryptorchid... OMIM:619004
Woodhouse-Sakati Syndrome
Streak ovary, Premature ovarian insufficiency, Decreased response to growth hormone stimulation t... ORPHA:3464
Duplication Of The Pituitary Gland
Supernumerary tooth, Abnormal pituitary gland morphology, Abnormality of the tongue, Cleft palate... ORPHA:314621
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ... ORPHA:90793
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Optic disc pallor, Abnormal pinna morphology, Vertigo, Small pituitary gland, Severe sensorineura... OMIM:614195
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... OMIM:603554
17Q24.2 Microdeletion Syndrome
Otosclerosis, Thin upper lip vermilion, Decreased response to growth hormone stimulation test, Mi... ORPHA:529962
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Elevated circulating growth hormone concentration, Carcinoid tumor, Pancreat... OMIM:610755
Premature Ovarian Failure 15
Irregular menstruation, Secondary amenorrhea, Elevated circulating follicle stimulating hormone l... OMIM:618096
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating cortisol level, Severe B lymphocytopenia, Decreased serum insulin-like grow... ORPHA:293978
Congenital Disorder Of Glycosylation, Type Iiq
Small pituitary gland OMIM:617395
Nelson Syndrome
Increased urinary cortisol level, Generalized hyperpigmentation, Testicular neoplasm, Pituitary c... ORPHA:199244
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Hypertriglyceridemia 1
Hypopituitarism OMIM:145750
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia OMIM:616873
Igg4-Related Thyroid Disease
Nodular goiter, Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland... ORPHA:64744
Cog2-Cdg
Small pituitary gland ORPHA:435934
Cohen Syndrome
Bone spicule pigmentation of the retina, Decreased response to growth hormone stimulation test, M... OMIM:216550
Ovarian Dysgenesis 7
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased serum estradiol, El... OMIM:618117
Temple Syndrome
Few cafe-au-lait spots, Decreased response to growth hormone stimulation test, Precocious puberty... ORPHA:254516
Mosaic Variegated Aneuploidy Syndrome 2
Decreased response to growth hormone stimulation test, Micrognathia, Narrow mouth, Low-set ears, ... OMIM:614114
Immunodeficiency, Common Variable, 10
Decreased response to growth hormone stimulation test, Central adrenal insufficiency, Abnormal re... OMIM:615577
Agammaglobulinemia 3, Autosomal Recessive
Neutropenia, Absent circulating B cells, Abnormal T cell morphology OMIM:613501
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Decreased response to growth hormone stimulation test, Delayed puberty, Recurrent otit... OMIM:307200
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Conductive hearing... OMIM:609053
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618987
Meier-Gorlin Syndrome 6
Microretrognathia, Posteriorly rotated ears, Decreased response to growth hormone stimulation tes... OMIM:616835
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility, Elevated circulating follicle stimulating hormone level... OMIM:619938
Chromosome Xq26.3 Duplication Syndrome
Elevated circulating growth hormone concentration, Pituitary adenoma, Hyperhidrosis, Increased ci... OMIM:300942
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... OMIM:300511
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
Acromegaly
Mandibular prognathia, Broad jaw, Diabetes mellitus, Hypogonadotropic hypogonadism, Generalized h... ORPHA:963
Leptin Receptor Deficiency
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:614963
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating dihydrotestosterone concentration, Secondary... OMIM:228300
Septooptic Dysplasia
Anterior pituitary hypoplasia, Diabetes insipidus, Optic nerve hypoplasia, Decreased response to ... OMIM:182230
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Downturned ... ORPHA:98754
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Decreased circulating cortisol level, Orthostatic hypotension, Premature ovar... ORPHA:199299
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Temtamy Preaxial Brachydactyly Syndrome
Diastema, Deep philtrum, Talon cusp, Optic atrophy, Cleft palate, Bilateral sensorineural hearing... OMIM:605282
Ovarian Dysgenesis 10
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:619834
Premature Ovarian Failure 6
Premature ovarian insufficiency, Streak ovary, Female infertility, Elevated circulating luteinizi... OMIM:612310
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia OMIM:616941
Premature Ovarian Failure 14
Primary amenorrhea, Decreased serum estradiol, Elevated circulating follicle stimulating hormone ... OMIM:618014
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Downturned ... ORPHA:177901
African Trypanosomiasis
Papilledema, Abnormality of the menstrual cycle, Abnormality of the endocrine system, Abnormality... ORPHA:3385
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Downturned ... ORPHA:98793
Pallister-Hall Syndrome
Thyroid dysgenesis, Natal tooth, Decreased circulating cortisol level, Posteriorly rotated ears, ... OMIM:146510
Myasthenic Syndrome, Congenital, 22
Tented upper lip vermilion, Decreased response to growth hormone stimulation test OMIM:616224
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent throm... OMIM:150550
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Downturned ... ORPHA:177904
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Ovarian Dysgenesis 5
Primary amenorrhea, Decreased serum estradiol, Elevated circulating follicle stimulating hormone ... OMIM:617690
Charge Syndrome
Hypoplasia of the semicircular canal, Low-set, posteriorly rotated ears, Hypogonadotropic hypogon... ORPHA:138
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased circulating A... OMIM:613986
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Premature Ovarian Failure 8
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
Monosomy 18Q
Mandibular prognathia, Bilateral cryptorchidism, Sensorineural hearing impairment, Downturned cor... ORPHA:1600
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Anhidrosis, Everted upper lip vermilion, Absent nipple, Abnormal oral mucosa morphology, Conical ... OMIM:305100
Premature Ovarian Failure 7
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... OMIM:612964
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Fanconi Anemia, Complementation Group F
Decreased response to growth hormone stimulation test, Cryptorchidism, Microtia, Conductive heari... OMIM:603467
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Bone marrow hypocellularity, Hemoph... OMIM:301078
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Dental crowding, Decreased response to growth hormone stimulation test, Micrognathia, Precocious ... ORPHA:96182
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Mandibular prognathia, Decreased response to growth hormone stimulation test, Micrognathia, Senso... OMIM:616007
Premature Ovarian Failure 11
Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Oligomenorrhea OMIM:616946
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Absence of pubertal development, Primary amenorrh... OMIM:273250
Agammaglobulinemia 2, Autosomal Recessive
Absent circulating B cells, Abnormal T cell morphology OMIM:613500
Prader-Willi Syndrome
Decreased response to growth hormone stimulation test, Xerostomia, Downturned corners of mouth, P... ORPHA:739
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Lymphopenia, B lymphocytopenia ORPHA:277
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Posteriorly rotated ears, Decreased response to growth hormone stimulation test, Deep philtrum, W... OMIM:617260
Juberg-Hayward Syndrome
Decreased response to growth hormone stimulation test, Cleft upper lip OMIM:216100
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent circulating B ce... OMIM:619705
Hartsfield Syndrome
Median cleft lip, Posteriorly rotated ears, Cleft upper lip, Cryptorchidism, Gonadotropin deficie... OMIM:615465
Premature Ovarian Failure 13
Amenorrhea, Elevated circulating follicle stimulating hormone level, Female infertility, Oligomen... OMIM:617442
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... OMIM:615926
Myoectodermal Gonadal Dysgenesis Syndrome
Posteriorly rotated ears, Elevated circulating luteinizing hormone level, Sensorineural hearing i... OMIM:618419
Precocious Puberty, Central, 1
Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti... OMIM:176400
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Holoprosencephaly
Diabetes mellitus, Median cleft lip, Bilateral cleft lip, External ear malformation, Cryptorchidi... ORPHA:2162
Noonan Syndrome 12
Decreased response to growth hormone stimulation test OMIM:618624
Immunodeficiency, Common Variable, 1
Splenomegaly, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Decreased ... OMIM:607594
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... OMIM:606367
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, B lymphocytopenia OMIM:601457
Tbck-Related Intellectual Disability Syndrome
Mandibular prognathia, Hyperthyroidism, Tented upper lip vermilion, Decreased response to growth ... ORPHA:488632
Boomerang Dysplasia
Cryptorchidism, Decreased response to growth hormone stimulation test ORPHA:1263
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp... OMIM:618986
Ovarian Dysgenesis 8
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased serum estradiol, El... OMIM:618187
Silver-Russell Syndrome 1
Decreased response to growth hormone stimulation test, Micrognathia, Downturned corners of mouth,... OMIM:180860
Androgen Insensitivity Syndrome
Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Elevated circulating... OMIM:300068
Histiocytosis-Lymphadenopathy Plus Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Sensorineu... OMIM:602782
Premature Ovarian Failure 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... OMIM:615724
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati... ORPHA:572333
Solitary Median Maxillary Central Incisor
Decreased response to growth hormone stimulation test, Cleft upper lip, Prominent median palatal ... OMIM:147250
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Adrenal cortical sclerosis, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the... OMIM:102700
Immunodeficiency 57 With Autoinflammation
Perianal abscess, T lymphocytopenia, Reduced natural killer cell count, B lymphocytopenia OMIM:618108
45,X/46,Xy Mixed Gonadal Dysgenesis
Low-set, posteriorly rotated ears, Male infertility, Streak ovary, Unilateral cryptorchidism, Mic... ORPHA:1772
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Pancytopenia, Absent circulating B cells OMIM:620282
Culler-Jones Syndrome
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Cleft upper lip, Cryptorchidism, Clef... OMIM:615849
Tooth Agenesis, Selective, X-Linked, 1
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... OMIM:313500
Microphthalmia, Syndromic 6
Posteriorly rotated ears, Female hypogonadism, Uplifted earlobe, Adrenal hypoplasia, Micrognathia... OMIM:607932
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Secondary amenorrhea, Primary amenorrhea, Decreased ... OMIM:620311
Immunodeficiency 36 With Lymphoproliferation
Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cells, Decreased... OMIM:616005
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Fair hair, Absence of Stensen duct, Decreased response to growth hormone stimulation test, Hypogo... OMIM:604292
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Micrognathia, Pigmentary retinopathy, High palate, Delayed puberty, Hypopituitarism OMIM:600462
Cardiofaciocutaneous Syndrome 4
Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Hyperhidrosis, Mul... OMIM:615280
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... ORPHA:95699
Agammaglobulinemia 6, Autosomal Recessive
B lymphocytopenia, Abnormal T cell morphology OMIM:612692
Mu-Heavy Chain Disease
Splenomegaly, Abnormal B cell count, Anemia ORPHA:100024
Immunodeficiency 68
T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess OMIM:612260
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Eosinophilia, Splenomegaly, B lymphocytopenia, Abnormally low T cell recep... OMIM:602450
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Decreased response to growth hormone stimulation test OMIM:245590
Acth Deficiency, Isolated
Decreased circulating cortisol level, Adrenocorticotropic hormone deficiency, Adrenal hypoplasia OMIM:201400
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Hypogonadotropic hypogonadism, Diastema, Cryptorchidism, Supernumerary tooth, Agenesis of molar, ... OMIM:619718
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Fair hair, Absence of Stensen duct, Decreased response to growth hormone stimulation test, Hypogo... OMIM:129900
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia OMIM:618160
Leydig Cell Hypoplasia
Hypergonadotropic hypogonadism, Female hypogonadism, Cryptorchidism, Testicular gonadoblastoma, A... ORPHA:755
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple... OMIM:614700
Shwachman-Diamond Syndrome
Delayed eruption of teeth, Diabetes mellitus, Sinusitis, Decreased response to growth hormone sti... ORPHA:811
Immunodeficiency 70
Decreased proportion of CD4-positive helper T cells, B lymphocytopenia OMIM:618969
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Autoimmune thro... ORPHA:227982
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... ORPHA:785
Proteasome-Associated Autoinflammatory Syndrome 2
B lymphocytopenia, Increased CD4:CD8 ratio, Decreased proportion of memory B cells, Thrombocytopenia OMIM:618048
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune thrombocytopenia, Primary adrenal i... ORPHA:227990
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypopituitarism, Hypothyroidism OMIM:619013
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Pulp calcification, Taurodontia, Enamel hypoplasia OMIM:211900
Holoprosencephaly 7
Bilateral cleft palate, Median cleft lip, Hypoplasia of the premaxilla, Bilateral cleft lip, Clef... OMIM:610828
Prader-Willi Syndrome Due To Translocation
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Micrognathi... ORPHA:177907
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, B lymphocytopenia ORPHA:217390
Complete Androgen Insensitivity Syndrome
Male infertility, Testicular neoplasm, Elevated circulating luteinizing hormone level, Bilateral ... ORPHA:99429
Ovarian Dysgenesis 3
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... OMIM:614324
Prader-Willi Syndrome
Thin upper lip vermilion, Hypopigmentation of hair, Hypogonadotropic hypogonadism, Decreased resp... OMIM:176270
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Decreased response to growth hormone stimulation test, Central diabetes insipidus, Sensorineural ... ORPHA:293987
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Posteriorly rotated ears, Decreased response to growth hormone stimulation test, Supernumerary ni... OMIM:213980
Semilobar Holoprosencephaly
Median cleft lip, Diabetes insipidus, Decreased response to growth hormone stimulation test, Abno... ORPHA:220386
Alobar Holoprosencephaly
Median cleft lip, Diabetes insipidus, Decreased response to growth hormone stimulation test, Abno... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Median cleft lip, Diabetes insipidus, Decreased response to growth hormone stimulation test, Abno... ORPHA:93926
Lobar Holoprosencephaly
Median cleft lip, Diabetes insipidus, Decreased response to growth hormone stimulation test, Abno... ORPHA:93924
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Mandibular prognathia, Elevated circulating luteinizing hormone level, Hypoplasia of the maxilla,... ORPHA:3044
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Decreased response to ... ORPHA:67045
Frasier Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Primary a... ORPHA:347
Snakebite Envenomation
Hypopituitarism, Gingival bleeding ORPHA:449285
46,Xy Sex Reversal 1
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Abnormality of th... OMIM:400044
Tooth Agenesis, Selective, 3
Anhidrosis, Oligodontia of primary teeth, Agenesis of permanent molar, Oligodontia, Microdontia OMIM:604625
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, B lymphocytopenia ORPHA:70593
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, High, narrow palate, Pineal cyst, Oligodon... OMIM:615873
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Mixed hearing impairment, Decreased ... ORPHA:444077
Acromelic Frontonasal Dysplasia
Median cleft lip, Anterior pituitary hypoplasia, Cryptorchidism, Wide mouth, Hypopituitarism, Med... ORPHA:1827
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology OMIM:615966
Microform Holoprosencephaly
Tented upper lip vermilion, Maternal diabetes, Panhypopituitarism, Orofacial cleft, Cleft palate,... ORPHA:280200
Isolated Splenogonadal Fusion
Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circulating gonadotropin level, Te... ORPHA:457083
Wiedemann-Steiner Syndrome
Thin upper lip vermilion, Decreased response to growth hormone stimulation test, High palate, Low... ORPHA:319182
Immunodeficiency 92
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt... OMIM:619652
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Decreased response to growth hormone stimulation test, Premature thelarche, Cleft soft palate, Ab... ORPHA:268261
Acromelic Frontonasal Dysostosis
U-Shaped upper lip vermilion, Optic nerve hypoplasia, Periventricular nodular heterotopia, Cleft ... OMIM:603671
Activated Pi3K-Delta Syndrome
Splenomegaly, B lymphocytopenia ORPHA:397596
Charge Syndrome
Decreased response to growth hormone stimulation test, Micrognathia, Gonadotropin deficiency, Par... OMIM:214800
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp... ORPHA:331206
46,Xy Partial Gonadal Dysgenesis
Male infertility, Decreased serum testosterone concentration, Streak ovary, Hypergonadotropic hyp... ORPHA:251510
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypergonadotropic hypogonadism, Dysmenorrhea, Elevated circulating luteinizing hormone level, Dec... ORPHA:90796
Pseudohypoparathyroidism Type 1B
Delayed eruption of teeth, Decreased response to growth hormone stimulation test, Pseudohypoparat... ORPHA:94089
Immunodeficiency 43
Lung abscess, B lymphocytopenia, Reduced natural killer cell count OMIM:241600
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
B lymphocytopenia OMIM:614069
Partial Androgen Insensitivity Syndrome
Male infertility, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Incre... ORPHA:90797
Gabriele-De Vries Syndrome
Abnormality of upper lip vermillion, Posteriorly rotated ears, Decreased response to growth hormo... ORPHA:506358
Koolen-De Vries Syndrome Due To A Point Mutation
Hypopigmentation of the skin, Fair hair, Abnormal dental morphology, Decreased response to growth... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hypopigmentation of the skin, Fair hair, Abnormal dental morphology, Decreased response to growth... ORPHA:363958
Dominant Beta-Thalassemia
Hypoparathyroidism, Diabetes mellitus, Malar prominence, Abnormality of the dentition, Adrenal in... ORPHA:231226
Peters Plus Syndrome
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Exaggerated cupid's bow, Micrognathi... ORPHA:709
Turner Syndrome Due To Structural X Chromosome Anomalies
Micrognathia, High, narrow palate, High palate, Hashimoto thyroiditis, Premature ovarian insuffic... ORPHA:99413
Turner Syndrome
Micrognathia, High, narrow palate, High palate, Hashimoto thyroiditis, Premature ovarian insuffic... ORPHA:881
Mosaic Monosomy X
Micrognathia, High, narrow palate, High palate, Hashimoto thyroiditis, Premature ovarian insuffic... ORPHA:99228
Monosomy X
Micrognathia, High, narrow palate, High palate, Hashimoto thyroiditis, Premature ovarian insuffic... ORPHA:99226
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Generalized hyperpigmentation, Adrenal calcification, Adren... ORPHA:289548
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Generalized hyperpigmentation, Elevated circulating luteini... ORPHA:168558
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Severe B lymphocytopenia, Thrombocytopenia, Patent ductus arteriosus, Cryptorch... OMIM:620005
Isolated Exencephaly
Posterior pituitary agenesis, Anterior pituitary hypoplasia, Maternal diabetes ORPHA:563612
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormality of the endocrine system, Th... ORPHA:391487
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity OMIM:620133
Pearson Syndrome
Hypoparathyroidism, Diabetes mellitus, Pancreatic fibrosis, Decreased response to growth hormone ... ORPHA:699
Beta-Thalassemia Major
Hypoparathyroidism, Diabetes mellitus, Malar prominence, Abnormality of the dentition, Adrenal in... ORPHA:231214
Witteveen-Kolk Syndrome
Glue ear, Decreased response to growth hormone stimulation test, Uplifted earlobe, High, narrow p... OMIM:613406
Ppoma
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Abnormality of the t... ORPHA:97278
Maternal Uniparental Disomy Of Chromosome 2
Premature ovarian insufficiency, Decreased response to growth hormone stimulation test, Bilateral... ORPHA:96179
Spondyloenchondrodysplasia
Delayed eruption of teeth, Decreased response to growth hormone stimulation test, Dental malocclu... ORPHA:1855
Grfoma
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Neoplasm of the thym... ORPHA:97261
Wiedemann-Rautenstrauch Syndrome
Decreased response to growth hormone stimulation test, Abnormality of the ear, Downturned corners... ORPHA:3455
Fanconi Anemia, Complementation Group W
Decreased response to growth hormone stimulation test OMIM:617784
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Absent circulating B cells OMIM:619693
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Hypothyroidism ORPHA:90065
Vipoma
Neoplasm of the pancreas, Diabetes mellitus, Follicular thyroid carcinoma, Elevated circulating g... ORPHA:97282
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocellularity, ... ORPHA:508542
Somatostatinoma
Neoplasm of the pancreas, Diabetes mellitus, Elevated circulating growth hormone concentration, A... ORPHA:97283
Glucagonoma
Neoplasm of the pancreas, Diabetes mellitus, Stomatitis, Elevated circulating growth hormone conc... ORPHA:97280
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... ORPHA:64739
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Dental crowding, Decreased response to growth hormone stimulation test, Mi... OMIM:619503
Autoinflammatory Disease, Systemic, X-Linked
Neutropenia, B lymphocytopenia, Hepatosplenomegaly OMIM:301081
Alg12-Cdg
Decreased serum insulin-like growth factor 1, Cryptorchidism, Patent ductus arteriosus, B lymphoc... ORPHA:79324
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp... ORPHA:35078
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, B lymphocytopenia OMIM:616084
Steinert Myotonic Dystrophy
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... ORPHA:273
Igg4-Related Ophthalmic Disease
Eosinophilia, Orchitis, Abnormality of the anterior pituitary, Enlarged lacrimal glands, Thyroidi... ORPHA:449563
46,Xx Sex Reversal 1
Azoospermia, Elevated circulating follicle stimulating hormone level, Elevated circulating lutein... OMIM:400045
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, B lymphoc... ORPHA:221139
Lacrimoauriculodentodigital Syndrome 1
Lacrimal gland aplasia, Mixed hearing impairment, Absence of Stensen duct, Delayed eruption of pr... OMIM:149730
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Severe B lymphocytopenia, Biliary hyperplasia, Cryptorchidism, B lymphocytopenia, Cholelithiasis,... ORPHA:83617
Isolated Biliary Atresia
Atretic gallbladder, Hypopituitarism, Bile duct proliferation, Hypothyroidism ORPHA:30391
Agammaglobulinemia, X-Linked
T lymphocytopenia, B lymphocytopenia, Neutropenia, Prostatitis, Anemia OMIM:300755
Testicular Agenesis
Vanishing testis, Increased circulating gonadotropin level, Decreased serum testosterone concentr... ORPHA:325124
Alström Syndrome
Abnormality of dental color, Decreased response to growth hormone stimulation test, Elevated circ... ORPHA:64
Agammaglobulinemia 1, Autosomal Recessive
B lymphocytopenia, Rectal abscess, Neutropenia OMIM:601495
Axenfeld-Rieger Syndrome, Type 1
Thin upper lip vermilion, Decreased response to growth hormone stimulation test, Hypoplasia of th... OMIM:180500
Nijmegen Breakage Syndrome
T lymphocytopenia, Autoimmune hemolytic anemia, B lymphocytopenia, Thrombocytopenia OMIM:251260
Igg4-Related Kidney Disease
Eosinophilia, Abnormality of the anterior pituitary, Thyroiditis, Sialadenitis, Prostatitis, Panc... ORPHA:449395
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Abnormality of the endocrine system, Precocious puberty, Patent ductus arteriosus, Cryptorchidism... ORPHA:438213
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Splenomegaly, T lymphocytopenia, B lymphocytopenia, Reduce... OMIM:619381
Lysinuric Protein Intolerance
Pancreatitis, Decreased response to growth hormone stimulation test ORPHA:470

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 Pou1f1

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 Pou1f1.

No publications found that use IMPC mice or data for Pou1f1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Pou1f1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Pou1f1em1(IMPC)Bay Exon Deletion Mice
Pou1f1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Pou1f1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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