Gene Summary

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

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 Pou1f1em1(IMPC)Bay HOM   Early adult 0.00
preweaning lethality, complete penetrance Pou1f1em1(IMPC)Bay HOM Early adult 0.00

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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 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
Ectopic posterior pituitary, Macroglossia, Hypopituitarism, Decreased circulating T4 concentratio... ORPHA:226307
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Hypopituitarism, Decreased thyroid-stimulating hormone level, Malar flattening, Decreased circula... OMIM:613038
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Anterior pituitary agenesis, Ectopic anterior pituitary gland, Decre... 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
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:95512
Panhypophysitis
Increased circulating prolactin concentration, Abnormal posterior pituitary morphogenesis, Sensor... ORPHA:95513
Otodental Dysplasia
Delayed eruption of teeth, Long philtrum, Agenesis of premolar, Sensorineural hearing impairment,... OMIM:166750
Otodental Syndrome
Abnormality of canine, Carious teeth, Periodontitis, Progressive sensorineural hearing impairment... ORPHA:2791
Chudley-Mccullough Syndrome
Cerebellar dysplasia, Cerebellar hypoplasia, Dysplastic corpus callosum, Hydrocephalus, Partial a... OMIM:604213
Non-Functioning Pituitary Adenoma
Hypopituitarism, Central adrenal insufficiency, Decreased fertility in females, Female hypogonadi... ORPHA:91349
Ane Syndrome
Carious teeth, Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth ... ORPHA:157954
Post-Traumatic Pituitary Deficiency
Decreased response to growth hormone stimulation test, Panhypopituitarism, Decreased circulating ... ORPHA:95619
Functioning Gonadotropic Adenoma
Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f... ORPHA:91348
Weiss-Kruszka Syndrome
Low-set ears, Abnormality of the outer ear, Hearing impairment, Decreased response to growth horm... ORPHA:502430
Endocardial Fibroelastosis
Abnormal helix morphology, Low-set, posteriorly rotated ears, Micrognathia, Cryptorchidism, Abnor... ORPHA:2022
Spermatogenic Failure 14
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615842
Sheehan Syndrome
Central adrenal insufficiency, Sensorineural hearing impairment, Decreased serum estradiol, Breas... ORPHA:91355
Pituicytoma
Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Increased circ... ORPHA:251623
Spermatogenic Failure 13
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615841
Spermatogenic Failure, X-Linked, 4
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos... OMIM:301077
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Decreased response to growth hormone stimulation test OMIM:615925
48,Xxyy Syndrome
Broad jaw, Carious teeth, Delayed eruption of teeth, Thick lower lip vermilion, Open bite, Decrea... ORPHA:10
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility, Reduced circulating prolactin concentration OMIM:264110
Pituitary Hormone Deficiency, Combined, 2
Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal... OMIM:262600
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Secondary growth hormone deficiency, Abnormality of the dentition, Pigmentary retinopathy, Absenc... ORPHA:2235
Kearns-Sayre Syndrome
Anterior hypopituitarism, Abnormality of retinal pigmentation, Hearing impairment ORPHA:480
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Macroglossia, Hypopituitarism, Decreased circulating T4 concentratio... ORPHA:226307
Amelogenesis Imperfecta
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... ORPHA:88661
Isolated Growth Hormone Deficiency, Type Iv
Decreased response to growth hormone stimulation test, Decreased serum insulin-like growth factor... OMIM:618157
Hypothyroidism, Central, With Testicular Enlargement
Reduced circulating prolactin concentration, Hypothyroidism, Inappropriately normal thyroid-stimu... OMIM:300888
Meningioma
Increased circulating prolactin concentration, Neoplasm of the posterior pituitary, Enlarged pitu... ORPHA:2495
Short Stature-Wormian Bones-Dextrocardia Syndrome
Low-set ears, Broad alveolar ridges, Delayed eruption of teeth, Tooth agenesis, Micrognathia, Cry... ORPHA:2863
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Hypopituitarism, Decreased thyroid-stimulating hormone level, Malar flattening, Decreased circula... OMIM:613038
Gangliocytoma
Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Decreased female libido, Adrenocor... ORPHA:251937
Pituitary Carcinoma
Pituitary gonadotropic cell adenoma, Hearing impairment, Pituitary prolactin cell adenoma, Increa... ORPHA:300385
Mehmo Syndrome
Male hypogonadism, Cleft lip, Long philtrum, Widely spaced teeth, Decreased response to growth ho... OMIM:300148
Pituitary Hormone Deficiency, Combined, 3
Decreased response to growth hormone stimulation test, Sensorineural hearing impairment, Gonadotr... OMIM:221750
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Decreased response to growth hormone stimulation test, Sensorineural hearing impairment, Gonadotr... ORPHA:231720
Dentin Dysplasia, Type I
Periapical bone loss, Oligodontia, Taurodontia, Microdontia, Enamel hypoplasia, Pulp obliteration... OMIM:125400
Opticocochleodentate Degeneration
Optic atrophy, Hearing impairment, Cochlear degeneration OMIM:258700
Oligodontia
Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l... ORPHA:99798
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Abnormality of the dentition, Hearing impairment, Hypogonadism, Abnormal dental enamel morphology... ORPHA:3220
48,Xxxy Syndrome
Carious teeth, Delayed eruption of teeth, Hypogonadism, Decreased testicular size, Azoospermia, O... ORPHA:96263
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome
Hypopituitarism, Type II diabetes mellitus, Sensorineural hearing impairment, Reduced circulating... OMIM:620651
Rhyns Syndrome
Hypopituitarism, Hearing impairment ORPHA:140976
Deafness, Autosomal Dominant 86
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:620280
Deafness, Autosomal Dominant 44
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:607453
49,Xxxxy Syndrome
Carious teeth, Delayed eruption of teeth, Hypogonadism, Decreased testicular size, Azoospermia, O... ORPHA:96264
Rapp-Hodgkin Syndrome
Bifid uvula, Hypoplasia of the maxilla, Carious teeth, Conical tooth, Decreased number of sweat g... OMIM:129400
Pituitary Apoplexy
Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr... ORPHA:95613
Smith-Magenis Syndrome
Precocious puberty, Conductive hearing impairment, Cleft upper lip, Micrognathia, Open mouth, Ten... ORPHA:819
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Decreased response to growth hormo... ORPHA:90695
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Perrault Syndrome 1
Cerebellar atrophy, Sensorineural hearing impairment, Primary amenorrhea, Increased circulating g... OMIM:233400
Triple A Syndrome
Optic atrophy, Adrenal insufficiency, Generalized hyperpigmentation, Sensorineural hearing impair... ORPHA:869
Isolated Growth Hormone Deficiency, Type Ib
Decreased response to growth hormone stimulation test, Reduced circulating growth hormone concent... OMIM:612781
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Prelingual sensorineural hearing impairment, Progressive sensorineural hearing impairment, Decrea... ORPHA:436174
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
High, narrow palate, Iris hypopigmentation, Delayed eruption of teeth, Hypopigmented skin patches... ORPHA:3214
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Anterior pituitary agenesis, Ectopic anterior pituitary gland, Decre... ORPHA:95494
X-Linked Intellectual Disability, Van Esch Type
Male hypogonadism, Retrognathia, Absence of secondary sex characteristics, Decreased testicular s... ORPHA:163976
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Eec Syndrome
Carious teeth, Xerostomia, Tooth agenesis, Decreased response to growth hormone stimulation test,... ORPHA:1896
Joubert Syndrome 23
Dysplastic corpus callosum, Cerebellar dysplasia OMIM:616490
Pseudohypoparathyroidism Type 1A
Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Delayed ... ORPHA:79443
Snijders Blok-Campeau Syndrome
Low-set ears, Widely spaced teeth, Taurodontia, Enamel hypoplasia, High palate OMIM:618205
Amelogenesis Imperfecta, Type Ia
Generalized microdontia, Dental enamel pits, Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia OMIM:104530
Resistance To Thyrotropin-Releasing Hormone Syndrome
Increased circulating prolactin concentration, Decreased circulating T4 concentration, Reduced ra... ORPHA:99832
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Goiter, Sensorineural ... OMIM:600791
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Small pituitary gland, Cleft lip, Cryptorchidism, Sensorineural hearing impairment, Hypogonadotro... OMIM:612702
Pituitary Adenoma 2, Growth Hormone-Secreting
Pituitary adenoma, Elevated circulating growth hormone concentration OMIM:300943
Isolated Growth Hormone Deficiency, Type Ii
Decreased response to growth hormone stimulation test, Decreased serum insulin-like growth factor... OMIM:173100
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Low-set ears, Retrognathia, Long philtrum, Premature graying of hair, Decreased response to growt... ORPHA:280679
Joubert Syndrome 26
Cleft lip, Central hypothyroidism, Decreased response to growth hormone stimulation test, Panhypo... OMIM:616784
Rhyns Syndrome
Conductive hearing impairment, Decreased response to growth hormone stimulation test, Sensorineur... OMIM:602152
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Decreased response to growth hormone stimulation test, Panhypopituitarism, Hypothyroidism OMIM:300123
Orthostatic Hypotension 1
High palate, Reduced circulating prolactin concentration, Retrograde ejaculation, Orthostatic hyp... OMIM:223360
Deafness, Autosomal Dominant 9
Cochlear degeneration, Vertigo, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual... OMIM:601369
Deafness, Autosomal Dominant 77
Tinnitus, Abnormal inner ear morphology, Sensorineural hearing impairment OMIM:618915
Momo Syndrome
Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Taurodo... OMIM:157980
Bonnemann-Meinecke-Reich Syndrome
Decreased response to growth hormone stimulation test, Micrognathia ORPHA:1261
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Recurrent otitis media, Brain atrophy, Decreased response to growth hormone stimulation test OMIM:615286
Cranioectodermal Dysplasia 4
Protruding ear, Smooth philtrum, Thin vermilion border, Taurodontia OMIM:614378
Xq21 Microdeletion Syndrome
Optic atrophy, Dilatated internal auditory canal, Conductive hearing impairment, Stapes ankylosis... ORPHA:1435
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Abnormal B cell count OMIM:613495
Nance-Horan Syndrome
Diastema, Supernumerary maxillary incisor, Mulberry molar, Screwdriver-shaped incisors, Macrotia OMIM:302350
X-Linked Intellectual Disability, Cilliers Type
Male hypogonadism, Absence of secondary sex characteristics, Decreased testicular size, Decreased... ORPHA:163971
Trichodentoosseous Syndrome
Taurodontia, Microdontia, Widely spaced teeth OMIM:190320
Tooth Agenesis, Selective, 9
Taurodontia, Selective tooth agenesis, Microdontia OMIM:617275
Acrootoocular Syndrome
Low-set ears, High, narrow palate, Conductive hearing impairment, Atresia of the external auditor... ORPHA:2980
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Conical tooth, Microtia, first degree, Widely spaced teeth, Aplasia of the inner ear, Peg-shaped ... OMIM:610706
Pituitary Dwarfism With Large Sella Turcica
Decreased response to growth hormone stimulation test, Hypothyroidism OMIM:262710
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Low-set ears, Elevated circulating luteinizing hormone level, Retrognathia, Long philtrum, Premat... OMIM:300845
Panhypopituitarism, X-Linked
Panhypopituitarism OMIM:312000
Perrault Syndrome 3
Elevated circulating luteinizing hormone level, Streak ovary, Sensorineural hearing impairment, E... OMIM:614129
49,Xxxyy Syndrome
Male hypogonadism, Abnormality of the testis size, Low-set, posteriorly rotated ears, Decreased t... ORPHA:261534
Prolactinoma
Central adrenal insufficiency, Decreased fertility in females, Elevated circulating growth hormon... ORPHA:2965
46,Xx Gonadal Dysgenesis
Decreased serum estradiol, Hearing impairment, Streak ovary, Decreased fertility, Delayed puberty... ORPHA:243
Momo Syndrome
Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Thick u... ORPHA:2563
Cranioectodermal Dysplasia
Abnormality of the dentition, Abnormal dental enamel morphology, Microdontia, Taurodontia, Hypodo... ORPHA:1515
Tooth Agenesis, Selective, 7
Taurodontia, Agenesis of permanent teeth OMIM:616724
Ackerman Syndrome
Taurodontia, Broad philtrum OMIM:200970
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Central heterochromia, Decreased response to growth hormone stimulation t... OMIM:275400
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Abnormality of the dentition, Pigmentary retinopathy, Decreased response to growth hormone stimul... ORPHA:3363
Ziegler-Huang Syndrome
Bone marrow hypocellularity, Persistence of hemoglobin F, Hypogonadism, Cryptorchidism, Macrocyti... OMIM:620501
Atkin-Flaitz Syndrome
Abnormality of the dentition, Everted lower lip vermilion, Thick vermilion border, Maxillary late... ORPHA:1193
Pseudohypoparathyroidism Type 1C
Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Delayed ... ORPHA:79444
Immunodeficiency 112
Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched... OMIM:620449
Perrault Syndrome 4
Decreased serum estradiol, Progressive sensorineural hearing impairment, Hypoplasia of the ovary,... OMIM:615300
Obesity Due To Prohormone Convertase I Deficiency
Hypopigmentation of the skin, Decreased response to growth hormone stimulation test, Hyperinsulin... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypopigmentation of the skin, Decreased response to growth hormone stimulation test, Hyperinsulin... ORPHA:71526
Williams-Beuren Region Duplication Syndrome
Diastema, Decreased response to growth hormone stimulation test, Micrognathia, Cryptorchidism, Sh... OMIM:609757
Immunodeficiency 105
Reduced natural killer cell count, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired lympho... OMIM:619924
Oculodentodigital Dysplasia
Optic atrophy, Broad alveolar ridges, Carious teeth, Conductive hearing impairment, Hearing impai... ORPHA:2710
Kallmann Syndrome
Tooth agenesis, Breast hypoplasia, Hypothalamic gonadotropin-releasing hormone deficiency, Decrea... ORPHA:478
Mccune-Albright Syndrome
Precocious puberty, Hyperparathyroidism, Craniofacial hyperostosis, Pituitary adenoma, Hearing im... OMIM:174800
X-Linked Acrogigantism
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... ORPHA:300373
Cleft Lip/Palate
Hypoplasia of the maxilla, Conductive hearing impairment, Velopharyngeal insufficiency, Dental ma... ORPHA:199306
Immunodeficiency 102
Reduced natural killer cell count, Increased proportion of CD8-positive, alpha-beta TEMRA T cells... OMIM:301082
Cerebellofaciodental Syndrome
Low-set ears, Macrodontia of permanent maxillary central incisor, Dental malocclusion, Cryptorchi... OMIM:616202
Pallister-Hall Syndrome
Auricular tag, Atresia of the external auditory canal, Natal tooth, Hypopituitarism, Central adre... ORPHA:672
Hypotonia-Cystinuria Syndrome
Macrotia, Decreased response to growth hormone stimulation test, Tented upper lip vermilion, Faci... OMIM:606407
Hypergonadotropic Hypogonadism-Cataract Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Decreased fertilit... ORPHA:2410
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Low-set ears, Adrenal hypoplasia, Cryptorchidism, Decreased response to growth hormone stimulatio... OMIM:614732
Amelogenesis Imperfecta, Type Ic
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp... OMIM:204650
Combined Immunodeficiency, X-Linked
Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-... OMIM:312863
4H Leukodystrophy
Optic atrophy, Abnormality of the dentition, Cerebellar atrophy, Delayed eruption of teeth, Decre... ORPHA:289494
Oculodentodigital Dysplasia
Broad alveolar ridges, Carious teeth, Conductive hearing impairment, Selective tooth agenesis, Cl... OMIM:164200
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Precocious puberty, Increased circulating prolactin concentration, Hypopituitarism, Decreased res... ORPHA:91354
Orofaciodigital Syndrome Type 2
Natal tooth, Conductive hearing impairment, Velopharyngeal insufficiency, Peg-shaped maxillary la... ORPHA:2751
X-Linked Hypohidrotic Ectodermal Dysplasia
Type I diabetes mellitus, Delayed eruption of teeth, Everted upper lip vermilion, Microdontia, Hy... ORPHA:181
Craniopharyngioma
Optic atrophy, Hearing impairment, Increased circulating prolactin concentration, Hypopituitarism... ORPHA:54595
Taurodontism
Taurodontia OMIM:272700
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... ORPHA:52901
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor... OMIM:617514
Dyskeratosis Congenita
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Periodontitis, Hearing im... ORPHA:1775
15Q24 Microdeletion Syndrome
Abnormality of the outer ear, Abnormality of the dentition, Hearing impairment, Long philtrum, Th... ORPHA:94065
Congenital Syphilis
Optic atrophy, Hearing impairment, Hyperplasia of the maxilla, Pancreatitis, Mulberry molar, Notc... ORPHA:499009
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Decreased response to growth hormone stimulation test, Decreased testicular size, High palate, Ma... ORPHA:457240
Cerebellar-Facial-Dental Syndrome
Low-set ears, Macrodontia of permanent maxillary central incisor, Dental malocclusion, Long philt... ORPHA:444072
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... OMIM:615615
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Decreased response to growth hormone stimulation test, Stenosis of the external auditory canal, C... OMIM:601427
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Low-set ears, Decreased circulating parathyroid hormone level, Bifid uvula, Long philtrum, Decrea... OMIM:241410
Oculocerebrorenal Syndrome Of Lowe
Carious teeth, Periodontitis, Open bite, Micrognathia, Open mouth, Cryptorchidism, Everted lower ... ORPHA:534
16P12.1P12.3 Triplication Syndrome
Low-set ears, High, narrow palate, Retrognathia, Long philtrum, Bilateral cryptorchidism, Large e... ORPHA:485405
Agammaglobulinemia 10, Autosomal Dominant
Type I diabetes mellitus, Transient neutropenia, Absent circulating B cells OMIM:619707
Gomez-Lopez-Hernandez Syndrome
Low-set ears, Decreased response to growth hormone stimulation test, Malar flattening, Smooth phi... OMIM:601853
Joubert Syndrome 38
Low-set ears, Ectopic posterior pituitary, Small pituitary gland, Downturned corners of mouth, De... OMIM:619476
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Widely spaced teeth, Periapical tooth abscess, Enamel hypomineralization, Mic... ORPHA:3352
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Small pituitary gland, Hypogonadotropic hypogonadism, Central adrenal insufficiency, Delayed puberty OMIM:612079
Cernunnos-Xlf Deficiency
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia ORPHA:169079
Amelogenesis Imperfecta, Type Iv
Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia OMIM:104510
Acrodysostosis 1 With Or Without Hormone Resistance
Irregular menstruation, Optic atrophy, Hypoplasia of the maxilla, Elevated circulating parathyroi... OMIM:101800
Leukodystrophy, Hypomyelinating, 24
Hypothyroidism, B lymphocytopenia OMIM:619851
Intellectual Disability-Strabismus Syndrome
Low-set ears, Abnormality of the dentition, Hearing impairment, Recurrent otitis media, Decreased... ORPHA:363528
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Cerebellar atrophy, Hearing impairment, Cerebral atrophy, Hippocampal atrophy, Decreased response... OMIM:618922
47,Xyy Syndrome
Low-set ears, Azoospermia, Cryptorchidism, Malar flattening, Increased serum testosterone level, ... ORPHA:8
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Decreased serum estradiol, Hearing impairment, Absence of secondary sex ch... ORPHA:2232
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Decreased testicular size, Cryptorchidism OMIM:614880
Immunodeficiency 62
Decreased proportion of memory B cells, Autoimmune thrombocytopenia, Increased proportion of tran... OMIM:618459
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Low-set ears, Notched primary central incisor, Hydrocele testis OMIM:620062
Pycnodysostosis
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Dental malocclusion, Decr... ORPHA:763
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Schimke Immuno-Osseous Dysplasia
Multiple lentigines, Abnormality of thyroid physiology, Microdontia, Abnormal primary molar morph... ORPHA:1830
Pituitary Dermoid And Epidermoid Cysts
Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Hyperpituitarism... ORPHA:91351
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency
Low-set ears, Bilateral cryptorchidism, Decreased response to growth hormone stimulation test, Mi... OMIM:618336
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Long philtrum, Posterior pituitary hypoplasia, Abnormality of the anterior pituitary, Everted low... ORPHA:75389
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Elevated circulating thyroid-stimulating hormone concentration, Decreased response to growth horm... OMIM:610978
Pituitary Deficiency Due To Rathke Cleft Cysts
Secondary growth hormone deficiency, Adrenocorticotropin deficient adrenal insufficiency, Increas... ORPHA:91350
Immunodeficiency 76
Lymphopenia, T lymphocytopenia, Splenomegaly, B lymphocytopenia OMIM:619164
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Conical tooth, Recurrent otitis media, Hypopituitarism, Recurrent sinusitis, Hypohidrosis ORPHA:98813
Ritscher-Schinzel Syndrome 1
Low-set ears, Decreased response to growth hormone stimulation test, Micrognathia, Adrenal hypopl... OMIM:220210
Immunodeficiency, Common Variable, 10
Recurrent otitis media, Decreased response to growth hormone stimulation test, Central adrenal in... OMIM:615577
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Low-set ears, Delayed eruption of teeth, Decreased response to growth hormone stimulation test, O... OMIM:615866
Frontorhiny
Hypoplasia of the maxilla, Low-set, posteriorly rotated ears, Hypopituitarism, Congenital conduct... ORPHA:391474
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Severe B lymphocytopenia, Adrenocorticotropin deficient adrenal insufficiency, Decreased response... ORPHA:293978
Mpdu1-Cdg
Optic atrophy, Decreased response to growth hormone stimulation test, Prominent frontal sinuses, ... ORPHA:79323
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p... OMIM:212050
Tsh-Secreting Pituitary Adenoma
Increased circulating prolactin concentration, Central adrenal insufficiency, Decreased fertility... ORPHA:91347
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Progressive hearing impairment, Decreased response to growth hormone stimulation test, Oligodonti... OMIM:619234
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Ectopic posterior pituitary, Anterior pituitary agenesis, Absent pituitary stalk, Interrupted pit... OMIM:620303
Galloway-Mowat Syndrome 6
Cerebellar atrophy, Downturned corners of mouth, Decreased response to growth hormone stimulation... OMIM:618347
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Patent ductus arteriosus, Ectopic anterior pituitary gland OMIM:620558
Giant Axonal Neuropathy
Abnormal pituitary gland morphology ORPHA:643
Developmental And Epileptic Encephalopathy 108
Small pituitary gland OMIM:620115
Immunodeficiency 13
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... OMIM:615518
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Small pituitary gland, Vertigo, Optic disc pallor, Severe sensorineural hearing impairment, Abnor... OMIM:614195
Septopreoptic Holoprosencephaly
Precocious puberty, Central diabetes insipidus, Anterior hypopituitarism, Perisylvian polymicrogyria ORPHA:280195
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia, B lymphocytopenia... OMIM:603554
Somatomammotropinoma
Broad jaw, Abnormality of the dentition, Mandibular prognathia, Impotence, Pituitary adenoma, Pit... ORPHA:314769
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Pituitary adenoma, Hashimoto thyroiditis, Hypothyroidism, Carcinoid tumor, E... OMIM:610755
Congenital Disorder Of Glycosylation, Type Iiq
Small pituitary gland OMIM:617395
Igg4-Related Thyroid Disease
Graves disease, Euthyroid goiter, Goiter, Sialadenitis, Hashimoto thyroiditis, Hypothyroidism, Pa... ORPHA:64744
Chromosome 18Q Deletion Syndrome
Optic atrophy, Bifid uvula, Mandibular prognathia, Conductive hearing impairment, Atresia of the ... OMIM:601808
Duplication Of The Pituitary Gland
Hearing impairment, Retrognathia, Abnormal hypothalamus morphology, Supernumerary tooth, Wide mou... ORPHA:314621
Cog2-Cdg
Small pituitary gland ORPHA:435934
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased response to growth horm... ORPHA:3464
Pallister-Hall-Like Syndrome
Microglossia, Micrognathia, Median cleft upper lip, Hypothalamic hamartoma, Anterior hypopituitar... OMIM:241800
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Type I diabetes mellitus, Abnormal T cell count, Hepatic hemophagocytosis, Abnormal B cell count,... OMIM:620430
Agammaglobulinemia 3, Autosomal Recessive
Absent circulating B cells, Neutropenia, Abnormal T cell morphology OMIM:613501
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w... OMIM:619313
Deeah Syndrome
Low-set ears, Narrow palate, Hearing impairment, Long philtrum, Retrognathia, Decreased response ... OMIM:619004
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia OMIM:618987
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Cupped ear, Female infertility, Amenorrhea, Increased circulating gonadot... OMIM:110100
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Hearing impairment, Recurrent otitis media, Decreased response to growth hormone stimulation test... OMIM:307200
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Abnormal T cell count, Abnormal B cell count OMIM:613493
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased response to growth hormone stimulation test, Adrenal insufficiency, Decreased growth ho... OMIM:609734
Holoprosencephaly 9
Hypoplasia of the premaxilla, Underdeveloped tragus, Cryptorchidism, Bilateral cleft palate, Shor... OMIM:610829
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Cohen Syndrome
High, narrow palate, Optic atrophy, Hypoplasia of the maxilla, Macrodontia of permanent maxillary... OMIM:216550
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia OMIM:616941
Trichothiodystrophy 5, Nonphotosensitive
Mandibular prognathia, Global brain atrophy, Widely spaced primary teeth, Panhypopituitarism, Dec... OMIM:300953
Mosaic Variegated Aneuploidy Syndrome 2
Low-set ears, Hearing impairment, Decreased response to growth hormone stimulation test, Microgna... OMIM:614114
Hypertriglyceridemia 1
Hypopituitarism OMIM:145750
Fanconi Anemia, Complementation Group I
Conductive hearing impairment, Decreased response to growth hormone stimulation test, Hypothyroid... OMIM:609053
Immunodeficiency, Common Variable, 13
Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Late-Onset Isolated Acth Deficiency
Type I diabetes mellitus, Pituitary adenoma, Graves disease, Adrenocorticotropin deficient adrena... ORPHA:199299
Temtamy Preaxial Brachydactyly Syndrome
Optic atrophy, Diastema, Microdontia, Deep philtrum, Talon cusp, Bilateral sensorineural hearing ... OMIM:605282
Non-Acquired Isolated Growth Hormone Deficiency
Delayed puberty, Anterior hypopituitarism ORPHA:631
Nelson Syndrome
Increased circulating cortisol level, Increased circulating prolactin concentration, Pituitary ca... ORPHA:199244
Immunodeficiency 48
Impaired lymphocyte transformation with phytohemagglutinin, Abnormal B cell count, Splenomegaly, ... OMIM:269840
Acromegaly
Broad jaw, Abnormality of the dentition, Mandibular prognathia, Impotence, Pituitary prolactin ce... ORPHA:963
Septooptic Dysplasia
Decreased response to growth hormone stimulation test, Diabetes insipidus, Anterior pituitary hyp... OMIM:182230
Chromosome Xq26.3 Duplication Syndrome
Pituitary adenoma, Increased circulating prolactin concentration, Widely spaced teeth, Hypopituit... OMIM:300942
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Abnormal hypothalamus morphology, Delayed ... OMIM:614963
Pituitary Hormone Deficiency, Combined, 6
Ectopic posterior pituitary, Decreased circulating ACTH concentration, Posterior pituitary hypopl... OMIM:613986
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Neutropenia, B lymphocytopenia, Intermittent throm... OMIM:150550
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Premature adrenarche, Decreased circulating T4 concentration, Central adrenal insufficiency, Cryp... ORPHA:98754
Agammaglobulinemia 8B, Autosomal Recessive
B Acute Lymphoblastic Leukemia, Pancytopenia, Splenomegaly, Increased proportion of effector memo... OMIM:619824
Meier-Gorlin Syndrome 6
Microretrognathia, Conductive hearing impairment, Decreased response to growth hormone stimulatio... OMIM:616835
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis OMIM:619281
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Premature adrenarche, Decreased circulating T4 concentration, Central adrenal insufficiency, Cryp... ORPHA:177901
Immunodeficiency, Common Variable, 1
Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Neutr... OMIM:607594
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Abnormal oral mucosa morphology, Hypoplasia of the maxilla, Absent nipple, Conical tooth, Everted... OMIM:305100
Temple Syndrome
Precocious puberty, Bifid uvula, Decreased response to growth hormone stimulation test, Few cafe-... ORPHA:254516
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Premature adrenarche, Decreased circulating T4 concentration, Central adrenal insufficiency, Cryp... ORPHA:98793
Myasthenic Syndrome, Congenital, 22
Decreased response to growth hormone stimulation test, Tented upper lip vermilion OMIM:616224
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Type I diabetes mellitus, Hemophagocytosis, Agranulocytosis, Autoimm... OMIM:301078
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Premature adrenarche, Decreased circulating T4 concentration, Central adrenal insufficiency, Cryp... ORPHA:177904
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... ORPHA:90793
African Trypanosomiasis
Abnormality of the menstrual cycle, Abnormality of circulating cortisol level, Abnormality of ren... ORPHA:3385
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Taurodontia, Hyperparathyroidism, Pulp calcification, Enamel hypoplasia OMIM:211900
Srd5A3-Cdg
Optic atrophy, Cerebellar atrophy, Spotty hyperpigmentation, Decreased response to growth hormone... ORPHA:324737
Adrenocortical Carcinoma
Increased circulating cortisol level, Abnormality of reproductive system physiology, Increased ur... ORPHA:1501
Alstrom Syndrome
Irregular menstruation, Abnormality of the dentition, Pigmentary retinopathy, Progressive sensori... OMIM:203800
Agammaglobulinemia 2, Autosomal Recessive
Absent circulating B cells, Abnormal T cell morphology OMIM:613500
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lymphopenia, T lymphocytopenia, B lymphocytopenia ORPHA:277
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Cerebral cortical atrophy, Long philtrum, Decreased response to growth hormone stimulation test, ... OMIM:616007
Monosomy 18Q
Secondary growth hormone deficiency, Mandibular prognathia, Bilateral conductive hearing impairme... ORPHA:1600
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Pancytopen... OMIM:618986
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Absent circulating B cells, Decreased proportion of class-switched memory B cells, Neutropenia, B... OMIM:619705
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased proportion of CD4+CD25+ regulatory T cells, Type I diabetes mellitus, Hepatosplenomegal... OMIM:606367
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Low-set ears, Decreased response to growth hormone stimulation test, Wide mouth, Smooth philtrum,... OMIM:617260
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Premature adrenarche, Abnormality of the outer ear, Precocious puberty, High, narrow palate, Dent... ORPHA:96182
Prader-Willi Syndrome
Premature adrenarche, Xerostomia, Periodontitis, Central adrenal insufficiency, Cryptorchidism, P... ORPHA:739
Juberg-Hayward Syndrome
Decreased response to growth hormone stimulation test, Cleft upper lip OMIM:216100
Fanconi Anemia, Complementation Group F
Conductive hearing impairment, Decreased response to growth hormone stimulation test, Cryptorchid... OMIM:603467
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Adrenal cortical sclerosis, Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Reduced red c... OMIM:102700
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia OMIM:618108
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, B lymphocytopenia OMIM:601457
Charge Syndrome
Aplasia/Hypoplasia of the earlobes, Hearing impairment, Abnormal cranial nerve morphology, Crypto... ORPHA:138
Pallister-Hall Syndrome
Precocious puberty, Microglossia, Natal tooth, Atresia of the external auditory canal, Cleft uppe... OMIM:146510
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Absent circulating B cells, Splenomegaly OMIM:620282
Tooth Agenesis, Selective, X-Linked, 1
Aplasia of the maxilla, Selective tooth agenesis, Tooth agenesis, Agenesis of molar, Agenesis of ... OMIM:313500
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Low-set ears, Cleft lip, Cupped ear, Decreased response to growth hormone stimulation test, Hashi... OMIM:618223
Culler-Jones Syndrome
Ectopic posterior pituitary, Cleft upper lip, Hypopituitarism, Hypogonadism, Cryptorchidism, Ante... OMIM:615849
Histiocytosis-Lymphadenopathy Plus Syndrome
Type I diabetes mellitus, Hearing impairment, Pancreatic hypoplasia, Retrognathia, Decreased resp... OMIM:602782
Pseudohypoparathyroidism Type 1B
Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Delayed ... ORPHA:94089
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel... OMIM:616005
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, B lymphocytopenia OMIM:612692
Mu-Heavy Chain Disease
Anemia, Abnormal B cell count, Splenomegaly ORPHA:100024
Immunodeficiency, Common Variable, 8, With Autoimmunity
Type I diabetes mellitus, Pancytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hypothyroidism... OMIM:614700
Immunodeficiency 68
Abnormal natural killer cell count, T lymphocytopenia, Abscess, B lymphocytopenia OMIM:612260
Holoprosencephaly
Optic atrophy, Hypoplasia of the zygomatic bone, Tooth agenesis, Anterior hypopituitarism, Panhyp... ORPHA:2162
Lymphoproliferative Syndrome, X-Linked, 1
Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp... OMIM:308240
Tbck-Related Intellectual Disability Syndrome
High, narrow palate, Global brain atrophy, Long philtrum, Decreased response to growth hormone st... ORPHA:488632
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, B lymphocytopenia ORPHA:70593
Solitary Median Maxillary Central Incisor
Cleft upper lip, Decreased response to growth hormone stimulation test, Prominent median palatal ... OMIM:147250
Webb-Dattani Syndrome
Retrognathia, Decreased response to growth hormone stimulation test, Cryptorchidism, Adrenocortic... OMIM:615926
Microphthalmia, Syndromic 6
Low-set ears, Cerebral cortical atrophy, Bifid uvula, Microglossia, Hearing impairment, Retrognat... OMIM:607932
Hartsfield Syndrome
Low-set ears, Hypoplasia of the frontal bone, Cleft upper lip, Cryptorchidism, Gonadotropin defic... OMIM:615465
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Lymphopenia, Splenomegaly, Aplasia of the t... OMIM:602450
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Hypoplasia of the maxilla, Carious teeth, Xerostomia, Hearing impairment, Selective tooth agenesi... OMIM:604292
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pigmentary retinopathy, Hypopituitarism, Micrognathia, Delayed puberty, High palate OMIM:600462
Cardiofaciocutaneous Syndrome 4
Decreased response to growth hormone stimulation test, Multiple lentigines, Hyperhidrosis, Cafe-a... OMIM:615280
Silver-Russell Syndrome 1
Downturned corners of mouth, Decreased response to growth hormone stimulation test, Micrognathia,... OMIM:180860
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Diastema, Agenesis of molar, Cryptorchidism, Microdontia, Hypogonadotropic hypogonadism, Delayed ... OMIM:619718
Immunodeficiency 70
Decreased proportion of CD4-positive helper T cells, B lymphocytopenia OMIM:618969
Immunodeficiency, Common Variable, 6
Abnormal T cell count, Autoimmune thrombocytopenia, Abnormal B cell count OMIM:613496
Autoimmune Polyendocrinopathy Type 3
Thymoma, Type I diabetes mellitus, Non-caseating epithelioid cell granulomatosis, Graves disease,... ORPHA:227982
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, B lymphocytopenia, Thrombocytopenia, Increased CD4:CD8 ratio OMIM:618048
Acth Deficiency, Isolated
Decreased circulating cortisol level, Adrenocorticotropic hormone deficiency, Adrenal hypoplasia OMIM:201400
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Hypoplasia of the maxilla, Carious teeth, Conductive hearing impairment, Xerostomia, Selective to... OMIM:129900
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia OMIM:618160
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Decreased response to growth hormone stimulation test OMIM:245590
Shwachman-Diamond Syndrome
Abnormality of the outer ear, Carious teeth, Pancreatic hypoplasia, Hearing impairment, Delayed e... ORPHA:811
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Low-set ears, Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decrease... ORPHA:572333
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, B lymphocytopenia ORPHA:217390
Autoimmune Polyendocrinopathy Type 4
Thymoma, Type I diabetes mellitus, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypopla... ORPHA:227990
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypopituitarism, Hypothyroidism OMIM:619013
Prader-Willi Syndrome Due To Translocation
Carious teeth, Micrognathia, Everted lower lip vermilion, Anterior pituitary hypoplasia, Microdon... ORPHA:177907
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Premature adrenarche, Central hypothyroidism, Increased circulating prolactin concentration, Decr... ORPHA:293987
Holoprosencephaly 7
Hypoplasia of the premaxilla, Unilateral cleft lip, Panhypopituitarism, Fusion of the left and ri... OMIM:610828
Tooth Agenesis, Selective, 3
Oligodontia of primary teeth, Agenesis of permanent molar, Oligodontia, Microdontia, Anhidrosis OMIM:604625
Semilobar Holoprosencephaly
Bifid uvula, Central hypothyroidism, Decreased response to growth hormone stimulation test, Panhy... ORPHA:220386
Alobar Holoprosencephaly
Bifid uvula, Central hypothyroidism, Decreased response to growth hormone stimulation test, Panhy... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Bifid uvula, Central hypothyroidism, Decreased response to growth hormone stimulation test, Panhy... ORPHA:93926
Lobar Holoprosencephaly
Bifid uvula, Central hypothyroidism, Decreased response to growth hormone stimulation test, Panhy... ORPHA:93924
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Low-set ears, Hypoplasia of the maxilla, Cleft upper lip, Supernumerary nipple, Recurrent otitis ... OMIM:213980
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased serum insulin-like growth f... ORPHA:67045
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Cupped ear, Hearing impairment, Conductive hearing impairment, Downturned corners of mouth, Low-s... ORPHA:444077
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, Abnormal natural killer cell morphology, B lymphocytopenia OMIM:615966
Acromelic Frontonasal Dysostosis
Low-set ears, Cleft upper lip, Hypopituitarism, Periventricular nodular heterotopia, Cryptorchidi... OMIM:603671
Snakebite Envenomation
Hypopituitarism, Gingival bleeding ORPHA:449285
Immunodeficiency 92
Thrombocytosis, Leukocytosis, Lymphocytosis, Decreased proportion of class-switched memory B cell... OMIM:619652
Immunodeficiency 67
Abnormal T cell count, Transient neutropenia, Abnormal B cell count, Abnormal natural killer cell... OMIM:607676
Helsmoortel-Van Der Aa Syndrome
Low-set ears, Carious teeth, Ankyloglossia, Cryptorchidism, Everted lower lip vermilion, High, na... OMIM:615873
Activated Pi3K-Delta Syndrome
Splenomegaly, B lymphocytopenia ORPHA:397596
Microform Holoprosencephaly
Panhypopituitarism, Tented upper lip vermilion, Solitary median maxillary central incisor, Orofac... ORPHA:280200
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T ce... ORPHA:331206
Wiedemann-Steiner Syndrome
Low-set ears, Long philtrum, Decreased response to growth hormone stimulation test, Thin upper li... ORPHA:319182
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Cerebral cortical atrophy, Hearing impairment, Retrognathia, Widely spaced teeth, Decreased respo... ORPHA:268261
Acromelic Frontonasal Dysplasia
Hypopituitarism, Median cleft palate, Cryptorchidism, Median cleft upper lip, Anterior pituitary ... ORPHA:1827
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
B lymphocytopenia OMIM:614069
Immunodeficiency 43
Reduced natural killer cell count, Lung abscess, B lymphocytopenia OMIM:241600
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Severe B lymphocytopenia, Exocrine pancreatic insufficiency, Lymphopenia, Crypt... OMIM:620005
Prader-Willi Syndrome
Precocious puberty, Carious teeth, Downturned corners of mouth, Decreased response to growth horm... OMIM:176270
Charge Syndrome
Low-set ears, Micrognathia, Cryptorchidism, Sensorineural hearing impairment, Hypoparathyroidism,... OMIM:214800
Dominant Beta-Thalassemia
Abnormality of the dentition, Hyperplasia of the maxilla, Hypopituitarism, Malar prominence, Adre... ORPHA:231226
Isolated Exencephaly
Posterior pituitary agenesis, Maternal diabetes, Anterior pituitary hypoplasia ORPHA:563612
Koolen-De Vries Syndrome Due To A Point Mutation
Precocious puberty, Optic atrophy, Hypopigmentation of the skin, Hearing impairment, Fair hair, R... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Precocious puberty, Optic atrophy, Hypopigmentation of the skin, Hearing impairment, Fair hair, R... ORPHA:363958
Peters Plus Syndrome
Optic atrophy, Cerebral cortical atrophy, Microtia, second degree, Conductive hearing impairment,... ORPHA:709
Dyskeratosis Congenita, Autosomal Recessive 8
Reduced natural killer cell count, Bone marrow hypocellularity, Pancytopenia, B lymphocytopenia OMIM:620133
Gabriele-De Vries Syndrome
Low-set ears, Abnormality of the dentition, Thick lower lip vermilion, Decreased response to grow... ORPHA:506358
Pearson Syndrome
Pigmentary retinopathy, Hearing impairment, Decreased response to growth hormone stimulation test... ORPHA:699
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Type I diabetes mellitus, Lymphopenia, Hepatosplenomegaly, Autoimmune hemolytic anemia, Primary h... ORPHA:391487
Beta-Thalassemia Major
Abnormality of the dentition, Hyperplasia of the maxilla, Hypopituitarism, Malar prominence, Adre... ORPHA:231214
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Bone marrow hypocellularity, Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutr... ORPHA:508542
Agammaglobulinemia 9, Autosomal Recessive
Absent circulating B cells, Thrombocytopenia OMIM:619693
Wiedemann-Rautenstrauch Syndrome
Low-set ears, Natal tooth, Increased circulating prolactin concentration, Recurrent otitis media,... ORPHA:3455
Witteveen-Kolk Syndrome
Hearing impairment, Hyperplasia of the maxilla, Glue ear, Type II diabetes mellitus, Narrow mouth... OMIM:613406
Maternal Uniparental Disomy Of Chromosome 2
Bilateral cryptorchidism, Decreased response to growth hormone stimulation test, Chordee, Hypothy... ORPHA:96179
Ataxia-Telangiectasia
Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B cell count, T lympho... OMIM:208900
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Hypothyroidism ORPHA:90065
Alg12-Cdg
Cryptorchidism, Decreased serum insulin-like growth factor 1, Thrombocytopenia, B lymphocytopenia... ORPHA:79324
Autoinflammatory Disease, Systemic, X-Linked
Hepatosplenomegaly, Neutropenia, B lymphocytopenia OMIM:301081
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis OMIM:616084
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Absent natural killer cells, Lymphopenia, Hepatosplenomegaly, Impaired lymphocyte transformation ... ORPHA:35078
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Low-set ears, Recurrent otitis media, Cleft soft palate, Micrognathia, Cryptorchidism, Narrow mou... OMIM:619503
Igg4-Related Ophthalmic Disease
Sialadenitis, Orchitis, Eosinophilia, Abnormality of the anterior pituitary, Prostatitis, Pancrea... ORPHA:449563
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Abnormal ... ORPHA:221139
Steinert Myotonic Dystrophy
Abnormality of the tongue muscle, Cerebral cortical atrophy, Male hypogonadism, Cholelithiasis, I... ORPHA:273
Lacrimoauriculodentodigital Syndrome 1
Carious teeth, Cupped ear, Hearing impairment, Lacrimal gland hypoplasia, Xerostomia, Delayed eru... OMIM:149730
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Pancreatic hypoplasia, Cryptorchidism, Biliary hyperplasia, B lymphocytopenia, Se... ORPHA:83617
Isolated Biliary Atresia
Hypopituitarism, Hypothyroidism, Bile duct proliferation, Atretic gallbladder ORPHA:30391
Agammaglobulinemia, X-Linked
Prostatitis, Neutropenia, B lymphocytopenia, Anemia, T lymphocytopenia OMIM:300755
Agammaglobulinemia 1, Autosomal Recessive
Rectal abscess, Neutropenia, B lymphocytopenia OMIM:601495
Igg4-Related Kidney Disease
Sialadenitis, Prostatitis, Eosinophilia, Abnormality of the anterior pituitary, Pancreatitis, Thy... ORPHA:449395
Alström Syndrome
Testicular fibrosis, Decreased circulating T4 concentration, Hyperinsulinemia, Type II diabetes m... ORPHA:64
Axenfeld-Rieger Syndrome, Type 1
Hypoplasia of the maxilla, Decreased response to growth hormone stimulation test, Oligodontia, Th... OMIM:180500
Nijmegen Breakage Syndrome
T lymphocytopenia, Autoimmune hemolytic anemia, Thrombocytopenia, B lymphocytopenia OMIM:251260
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Precocious puberty, Increased circulating prolactin concentration, Cryptorchidism, Hypothyroidism... ORPHA:438213
Immunodeficiency 82 With Systemic Inflammation
Reduced natural killer cell count, Decreased proportion of naive T cells, Splenomegaly, B lymphoc... OMIM:619381

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

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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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