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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
Sensorineural hearing impairment, Decreased thyroid-stimulating hormone level, Decreased circulat... ORPHA:226307
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:613038
Combined Pituitary Hormone Deficiencies, Genetic Forms
Amenorrhea, Ectopic anterior pituitary gland, Infertility, Abnormal prolactin level, Decreased re... 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
Thyroid Hormone Metabolism, Abnormal, 1
Hypothyroidism, Decreased circulating free T3, Elevated circulating thyroid-stimulating hormone c... OMIM:609698
Panhypophysitis
Impotence, Decreased circulating cortisol level, Orthostatic hypotension, Increased circulating p... ORPHA:95513
Adenohypophysitis
Sensorineural hearing impairment, Amenorrhea, Adrenocorticotropic hormone deficiency, Impotence, ... ORPHA:95512
Non-Functioning Pituitary Adenoma
Impotence, Central adrenal insufficiency, Decreased fertility in males, Erectile dysfunction, Hyp... ORPHA:91349
Otodental Dysplasia
Sensorineural hearing impairment, Taurodontia, Agenesis of premolar, Long philtrum, Delayed erupt... OMIM:166750
Chudley-Mccullough Syndrome
Hydrocephalus, Dysplastic corpus callosum, Cerebellar hypoplasia, Partial agenesis of the corpus ... OMIM:604213
Otodental Syndrome
Abnormal dental enamel morphology, Gingival overgrowth, Taurodontia, Periodontitis, Agenesis of p... ORPHA:2791
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Infertility, Hearing impairment, Abnormality of skin pigmentation OMIM:300719
Post-Traumatic Pituitary Deficiency
Amenorrhea, Infertility, Abnormal prolactin level, Decreased response to growth hormone stimulati... ORPHA:95619
Functioning Gonadotropic Adenoma
Impotence, Ovarian cyst, Central diabetes insipidus, Enlarged polycystic ovaries, Pituitary gonad... ORPHA:91348
Ane Syndrome
Premature loss of teeth, Hyperpigmented nevi, Decreased serum testosterone concentration, Decreas... ORPHA:157954
Endocardial Fibroelastosis
Abnormal helix morphology, Micrognathia, Low-set, posteriorly rotated ears, Anterior hypopituitar... ORPHA:2022
Sheehan Syndrome
Impotence, Dyspareunia, Central adrenal insufficiency, Decreased circulating cortisol level, Orth... ORPHA:91355
Spermatogenic Failure, X-Linked, 4
Decreased serum testosterone concentration, Abnormal prolactin level, Elevated circulating lutein... OMIM:301077
Pituicytoma
Abnormality of the pituitary gland, Decreased serum testosterone concentration, Decreased respons... ORPHA:251623
Prolactin Deficiency, Isolated
Infertility, Irregular menstruation, Reduced circulating prolactin concentration OMIM:264110
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypoplasia of the ovary, Reduced circulating prolactin concentration, Hypogonadotropic hypogonadi... ORPHA:2235
Pituitary Hormone Deficiency, Combined, 2
Adrenal insufficiency, Reduced circulating prolactin concentration, Panhypopituitarism, Hypothyro... OMIM:262600
Hypothyroidism, Central, With Testicular Enlargement
Hypothyroidism, Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Inapprop... OMIM:300888
Growth Hormone Deficiency, Isolated Partial
Decreased response to growth hormone stimulation test, Small pituitary gland OMIM:615925
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Decreased circulating free T3, Abnormal circulating insulin concentration, Elevated circulating t... ORPHA:171706
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Sensorineural hearing impairment, Decreased thyroid-stimulating hormone level, Decreased circulat... ORPHA:226307
Kearns-Sayre Syndrome
Hearing impairment, Abnormality of retinal pigmentation, Anterior hypopituitarism ORPHA:480
48,Xxyy Syndrome
Infertility, Type II diabetes mellitus, Taurodontia, Cleft palate, Open bite, Hypergonadotropic h... ORPHA:10
Amelogenesis Imperfecta
Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un... ORPHA:88661
Combined Oxidative Phosphorylation Deficiency 25
Cerebral atrophy, Decreased response to growth hormone stimulation test, Long philtrum, Cerebella... OMIM:616430
Meningioma
Impotence, Decreased circulating cortisol level, Neoplasm of the posterior pituitary, Abnormal hy... ORPHA:2495
Short Stature-Wormian Bones-Dextrocardia Syndrome
High palate, Tooth agenesis, Cryptorchidism, Micrognathia, Delayed eruption of teeth, Anterior hy... ORPHA:2863
Hypothyroidism, Congenital, Nongoitrous, 8
Inappropriately normal thyroid-stimulating hormone level, Central hypothyroidism OMIM:301033
Gangliocytoma
Abnormality of the pituitary gland, Amenorrhea, Pituitary null cell adenoma, Elevated circulating... ORPHA:251937
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:613038
Thyroid Hormone Resistance, Selective Pituitary
Elevated circulating thyroid-stimulating hormone concentration, Hyperthyroidism, Impaired sensiti... OMIM:145650
Isolated Growth Hormone Deficiency, Type Iv
Anterior pituitary hypoplasia, Decreased serum insulin-like growth factor 1, Decreased response t... OMIM:618157
Pituitary Carcinoma
Pituitary growth hormone cell adenoma, Enlarged pituitary gland, Elevated circulating growth horm... ORPHA:300385
Mehmo Syndrome
Decreased response to growth hormone stimulation test, Cleft palate, Open mouth, Macrotia, Long p... OMIM:300148
Perrault Syndrome 1
Sensorineural hearing impairment, High palate, Primary amenorrhea, Cerebellar atrophy, Increased ... OMIM:233400
X-Linked Intellectual Disability, Van Esch Type
Type II diabetes mellitus, Decreased serum testosterone concentration, Cryptorchidism, Microtia, ... ORPHA:163976
Pituitary Hormone Deficiency, Combined, 3
Sensorineural hearing impairment, Decreased response to growth hormone stimulation test, Anterior... OMIM:221750
Rhyns Syndrome
Hearing impairment, Hypopituitarism ORPHA:140976
Pituitary Apoplexy
Adrenocorticotropic hormone deficiency, Pituitary adenoma, Elevated circulating growth hormone co... ORPHA:95613
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Sensorineural hearing impairment, Adrenocorticotropic hormone deficiency, Decreased response to g... ORPHA:231720
Hyperthyroidism, Familial Gestational
Decreased thyroid-stimulating hormone level, Hyperthyroidism OMIM:603373
Opticocochleodentate Degeneration
Optic atrophy, Hearing impairment, Cochlear degeneration OMIM:258700
Oligodontia
Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... ORPHA:99798
Joubert Syndrome 23
Dysplastic corpus callosum, Cerebellar dysplasia OMIM:616490
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Sensorineural hearing impairment, Taurodontia, Abnormality of the dentition, Primary amenorrhea, ... ORPHA:3220
Prolactin Deficiency With Obesity And Enlarged Testes
Reduced circulating prolactin concentration, Macroorchidism OMIM:264120
Triple A Syndrome
Sensorineural hearing impairment, Adrenal insufficiency, Anterior hypopituitarism, Optic atrophy,... ORPHA:869
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Sensorineural hearing impairment, Narrow mouth, Decreased response to growth hormone stimulation ... ORPHA:436174
Hypothyroidism, Congenital, Nongoitrous, 1
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypoth... OMIM:275200
Hypothyroidism, Congenital, Nongoitrous, 9
Inappropriately normal thyroid-stimulating hormone level, Thyroid hypoplasia, Central hypothyroidism OMIM:301035
Pseudohypoparathyroidism Type 1A
Sensorineural hearing impairment, Decreased response to growth hormone stimulation test, Reduced ... ORPHA:79443
Combined Pituitary Hormone Deficiencies, Genetic Forms
Amenorrhea, Ectopic anterior pituitary gland, Infertility, Abnormal prolactin level, Decreased re... ORPHA:95494
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Eec Syndrome
Sensorineural hearing impairment, Tooth agenesis, Abnormality of the middle ear, Decreased respon... ORPHA:1896
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
High palate, Low-set ears, Anodontia, Dental malocclusion, Narrow palate, Decreased response to g... OMIM:264475
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Non-Acquired Panhypopituitarism
Amenorrhea, Ectopic anterior pituitary gland, Infertility, Abnormal prolactin level, Decreased re... ORPHA:90695
Resistance To Thyrotropin-Releasing Hormone Syndrome
Decreased circulating T4 concentration, Reduced circulating prolactin concentration, Decreased ci... ORPHA:99832
48,Xxxy Syndrome
Abnormal dental enamel morphology, Infertility, Type II diabetes mellitus, Taurodontia, Cleft pal... ORPHA:96263
X-Linked Intellectual Disability, Cilliers Type
Decreased serum testosterone concentration, Cryptorchidism, Hypergonadotropic hypogonadism, Absen... ORPHA:163971
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Cochlear degeneration, Progressive sensorineural hearing impairment, Diabetes mellitus OMIM:172500
Dentin Dysplasia, Type I
Taurodontia, Dentinogenesis imperfecta limited to primary teeth, Microdontia, Pulp obliteration, ... OMIM:125400
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Sensorineural hearing impairment, Taurodontia, High, narrow palate, Short philtrum, Hypopigmentat... ORPHA:3214
Smith-Magenis Syndrome
Cleft upper lip, Conductive hearing impairment, Precocious puberty, Taurodontia, Cleft palate, Mi... ORPHA:819
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Goiter, Incomplete partition of the cochlea type II, Enlarged v... OMIM:600791
49,Xxxyy Syndrome
Abnormality of the testis size, Decreased serum testosterone concentration, Micrognathia, Low-set... ORPHA:261534
Isolated Growth Hormone Deficiency, Type Ib
Decreased response to growth hormone stimulation test OMIM:612781
49,Xxxxy Syndrome
Abnormal dental enamel morphology, Infertility, Type II diabetes mellitus, Taurodontia, Cleft pal... ORPHA:96264
Joubert Syndrome 26
Decreased response to growth hormone stimulation test, Cleft palate, Panhypopituitarism, Cleft li... OMIM:616784
Taurodontism, Microdontia, And Dens Invaginatus
Dens in dente, Taurodontia, Microdontia, Pulp calcification OMIM:313490
46,Xx Gonadal Dysgenesis
Streak ovary, Primary amenorrhea, Hearing impairment, Secondary amenorrhea, Decreased serum estra... ORPHA:243
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Premature graying of hair, Decreased response to growth hormone stimulation test, Hypergonadotrop... ORPHA:280679
Orthostatic Hypotension 1
High palate, Orthostatic hypotension, Retrograde ejaculation, Reduced circulating prolactin conce... OMIM:223360
Non-Acquired Isolated Growth Hormone Deficiency
Anterior hypopituitarism ORPHA:631
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Hypothyroidism, Panhypopituitarism, Decreased response to growth hormone stimulation test OMIM:300123
Diabetes Insipidus, Neurohypophyseal
Decreased circulating osteocalcin level, Central diabetes insipidus OMIM:125700
Pituitary Adenoma 1, Multiple Types
Pituitary growth hormone cell adenoma, Pituitary adenoma, Elevated circulating growth hormone con... OMIM:102200
Pituitary Adenoma 2, Growth Hormone-Secreting
Pituitary adenoma, Elevated circulating growth hormone concentration OMIM:300943
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:619326
Bonnemann-Meinecke-Reich Syndrome
Micrognathia, Decreased response to growth hormone stimulation test ORPHA:1261
Rhyns Syndrome
Conductive hearing impairment, Pituitary hypothyroidism, Anterior hypopituitarism, Decreased resp... OMIM:602152
49,Xyyyy Syndrome
Increased circulating gonadotropin level, Abnormality of the testis size, Decreased serum testost... ORPHA:99330
Prolactinoma
Impotence, Dyspareunia, Central adrenal insufficiency, Decreased fertility in males, Erectile dys... ORPHA:2965
Isolated Growth Hormone Deficiency, Type Ii
Decreased response to growth hormone stimulation test OMIM:173100
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Aplasia of the inner ear, Microtia, first degree, Micrognathia, Microdontia, Widely spaced teeth,... OMIM:610706
Perrault Syndrome 4
Hypoplasia of the ovary, Cleft palate, Primary amenorrhea, Oligomenorrhea, Secondary amenorrhea, ... OMIM:615300
Deafness, Autosomal Dominant 77
Sensorineural hearing impairment, Tinnitus, Morphological abnormality of the inner ear OMIM:618915
Xq21 Microdeletion Syndrome
Sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Decreased resp... ORPHA:1435
Momo Syndrome
High palate, Dental malocclusion, Taurodontia, Long philtrum, Delayed eruption of teeth, Underfol... OMIM:157980
Deafness, Autosomal Dominant 9
Postlingual sensorineural hearing impairment, Tinnitus, Cochlear degeneration, Vertigo, Abnormali... OMIM:601369
Panhypopituitarism, X-Linked
Panhypopituitarism OMIM:312000
Acrootoocular Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Anodontia, Dental malocclusion, ... ORPHA:2980
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Premature graying of hair, Decreased response to growth hormone stimulation test, Hypergonadotrop... OMIM:300845
Amelogenesis Imperfecta, Type Ia
Taurodontia, Amelogenesis imperfecta, Generalized microdontia OMIM:104530
Pituitary Dwarfism With Large Sella Turcica
Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:262710
Cranioectodermal Dysplasia 4
Thin vermilion border, Protruding ear, Taurodontia, Smooth philtrum OMIM:614378
Trichodentoosseous Syndrome
Widely spaced teeth, Taurodontia, Microdontia OMIM:190320
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Decreased testicular size, Small pituitary gland OMIM:614880
Momo Syndrome
High palate, Thick upper lip vermilion, Dental malocclusion, Taurodontia, Long philtrum, Delayed ... ORPHA:2563
Nance-Horan Syndrome
Mulberry molar, Diastema, Screwdriver-shaped incisors, Supernumerary maxillary incisor, Macrotia OMIM:302350
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Decreased response to growth hormone stimulation test OMIM:618160
Pseudohypoparathyroidism Type 1C
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:79444
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Adrenocorticotropic hormone deficiency, Precocious puberty, Decreased response to growth hormone ... ORPHA:91354
Hypergonadotropic Hypogonadism-Cataract Syndrome
Hypergonadotropic hypogonadism, Primary amenorrhea, Absence of secondary sex characteristics, Sec... ORPHA:2410
Oliver-Mcfarlane Syndrome
Decreased response to growth hormone stimulation test, Hypogonadotropic hypogonadism, Pigmentary ... OMIM:275400
Myxedema
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Hypohidrosis, Goiter OMIM:255900
Cranioectodermal Dysplasia
Taurodontia, Hypodontia, Everted lower lip vermilion, Abnormality of the dentition, Microdontia, ... ORPHA:1515
Obesity Due To Prohormone Convertase I Deficiency
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Central adrenal insuffic... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Central adrenal insuffic... ORPHA:71526
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, T lymphocytopenia OMIM:233650
Atkin-Flaitz Syndrome
Maxillary lateral incisor microdontia, Everted lower lip vermilion, Abnormality of the dentition,... ORPHA:1193
Tooth Agenesis, Selective, 7
Agenesis of permanent teeth, Taurodontia OMIM:616724
Mccune-Albright Syndrome
Pituitary adenoma, Precocious puberty, Elevated circulating growth hormone concentration, Hyperth... OMIM:174800
Pallister-Hall Syndrome
Central adrenal insufficiency, Cleft palate, Hypothalamic hamartoma, Thyroid hypoplasia, Precocio... ORPHA:672
X-Linked Acrogigantism
Increased circulating insulin-like growth factor 1 concentration, Decreased thyroid-stimulating h... ORPHA:300373
Kallmann Syndrome
Sensorineural hearing impairment, Tooth agenesis, Dyspareunia, Cleft palate, Hypogonadotropic hyp... ORPHA:478
Ackerman Syndrome
Broad philtrum, Taurodontia OMIM:200970
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair
Oligodontia, Taurodontia OMIM:272980
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia ORPHA:169079
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Adrenal hypoplasia, Low-set ears, Decreased response to growth hormone stimulation test, Cryptorc... OMIM:614732
Williams-Beuren Region Duplication Syndrome
High palate, Decreased response to growth hormone stimulation test, Overfolded helix, Micrognathi... OMIM:609757
Immunodeficiency 105
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transf... OMIM:619924
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Decreased testicular size, Abnormal spermatogenesis, Azoospermia, In... ORPHA:399805
47,Xyy Syndrome
Increased serum testosterone level, Low-set ears, Cryptorchidism, Malar flattening, Oligospermia,... ORPHA:8
Cleft Lip/Palate
Conductive hearing impairment, Dental malocclusion, Velopharyngeal insufficiency, Abnormal number... ORPHA:199306
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Brain atrophy, Decreased response to growth hormone stimulation test, Recurrent otitis media OMIM:615286
Immunodeficiency 102
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of CD8-positive, alpha... OMIM:301082
Leukodystrophy, Hypomyelinating, 24
Hypothyroidism, B lymphocytopenia OMIM:619851
Cerebellofaciodental Syndrome
Dental malocclusion, Taurodontia, Macrodontia of permanent maxillary central incisor, Cryptorchid... OMIM:616202
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Graves disease, Increased circulating free T3, Goite... OMIM:275000
Hypotonia-Cystinuria Syndrome
Decreased response to growth hormone stimulation test, Hypergonadotropic hypogonadism, Tented upp... OMIM:606407
Congenital Disorder Of Glycosylation, Type Iiq
Small pituitary gland OMIM:617395
X-Linked Hypohidrotic Ectodermal Dysplasia
Everted lower lip vermilion, Delayed eruption of teeth, Anterior hypopituitarism, Microdontia, Hy... ORPHA:181
Oculodentodigital Dysplasia
Cleft upper lip, Conductive hearing impairment, Abnormal pinna morphology, Premature loss of teet... OMIM:164200
Craniopharyngioma
Enlarged pituitary gland, Type II diabetes mellitus, Central adrenal insufficiency, Abnormal hypo... ORPHA:54595
Oculodentodigital Dysplasia
Conductive hearing impairment, Abnormality of the ear, Tooth agenesis, Taurodontia, Cleft palate,... ORPHA:2710
Congenital Hypothyroidism
Sinusitis, Abnormality of the thyroid gland, Macroglossia, Thyroid dysgenesis, Goiter, Anterior h... ORPHA:442
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Increased circulating gonadotropin level, Infertility, Impotence, Decreased serum testosterone co... ORPHA:2232
4H Leukodystrophy
Decreased response to growth hormone stimulation test, Hypodontia, Hypogonadotropic hypogonadism,... ORPHA:289494
Premature Ovarian Failure 1
Increased circulating gonadotropin level, Irregular menstruation, Premature ovarian insufficiency OMIM:311360
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Type II diabetes mellitus, Impaired sensitivity to thyroid hormone, Compensated hypothyroidism, E... OMIM:274300
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Decreased serum testosterone concentration, Azoospermia, Delayed menarche, Hy... ORPHA:52901
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Acrodysostosis 1 With Or Without Hormone Resistance
Elevated calcitonin, Dental malocclusion, Decreased growth hormone responses to growth hormone-re... OMIM:101800
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Adrenocorticotropic hormone deficiency, Decreased response to growth hormo... OMIM:609734
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Goiter, Hyperthyroidism OMIM:613239
Amelogenesis Imperfecta, Type Ic
Taurodontia, Anterior open-bite malocclusion, Enamel hypomineralization, Yellow-brown discolorati... OMIM:204650
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Gingival overgrowth, Gingival hyperkeratosis, Hypodontia, Recurrent mandibular subluxations, Ever... OMIM:225410
Premature Ovarian Failure 9
Amenorrhea, Increased circulating gonadotropin level, Premature ovarian insufficiency OMIM:615724
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Helsmoortel-Van Der Aa Syndrome
Wide mouth, Decreased response to growth hormone stimulation test, Everted lower lip vermilion, L... OMIM:615873
Taurodontism
Taurodontia OMIM:272700
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
High palate, Decreased response to growth hormone stimulation test, Decreased testicular size, Ma... ORPHA:457240
Agammaglobulinemia 10, Autosomal Dominant
Absent circulating B cells, Type I diabetes mellitus, Transient neutropenia OMIM:619707
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Stenosis of the external auditory canal, Abnormality of the dentition, Congenital hypothyroidism,... OMIM:601427
15Q24 Microdeletion Syndrome
Narrow mouth, Decreased response to growth hormone stimulation test, Cryptorchidism, Abnormality ... ORPHA:94065
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Infertility, Hearing impairment, Goiter OMIM:617577
Omenn Syndrome
Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B lymphocytopenia... OMIM:603554
Cerebellar-Facial-Dental Syndrome
Alveolar ridge overgrowth, Dental malocclusion, Taurodontia, Macrodontia of permanent maxillary c... ORPHA:444072
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency
Decreased response to growth hormone stimulation test, Microtia, Micrognathia, Congenital adrenal... OMIM:618336
Holoprosencephaly 9
Cleft palate, Short philtrum, Underdeveloped tragus, Hypoplasia of the maxilla, Solitary median m... OMIM:610829
Dyskeratosis Congenita
Neoplasm of the pancreas, Periodontitis, Taurodontia, Hypermelanotic macule, Hypodontia, Prematur... ORPHA:1775
Intellectual Developmental Disorder, Autosomal Dominant 21
Narrow mouth, Cleft palate, Thin vermilion border, Long philtrum, Low-set, posteriorly rotated ea... OMIM:615502
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Congenital hypoparathyroid... OMIM:241410
Intellectual Disability-Strabismus Syndrome
High palate, Low-set ears, Recurrent otitis media, Wide mouth, Cryptorchidism, Decreased response... ORPHA:363528
Leydig Cell Hypoplasia, Type I
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level OMIM:238320
Joubert Syndrome 38
Decreased response to growth hormone stimulation test, Small pituitary gland, Downturned corners ... OMIM:619476
Gomez-Lopez-Hernandez Syndrome
High palate, Decreased response to growth hormone stimulation test, Malar flattening, Thin vermil... OMIM:601853
Blepharophimosis, Ptosis, And Epicanthus Inversus
High palate, Amenorrhea, Female infertility, Cupped ear, Irregular menstruation, Increased circul... OMIM:110100
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Small pituitary gland OMIM:612702
16P12.1P12.3 Triplication Syndrome
Large earlobe, Wide mouth, Decreased response to growth hormone stimulation test, High, narrow pa... ORPHA:485405
Tricho-Dento-Osseous Syndrome
Taurodontia, Periapical tooth abscess, Microdontia, Widely spaced teeth, Enamel hypomineralizatio... ORPHA:3352
Premature Ovarian Failure 17
Elevated circulating luteinizing hormone level, Decreased inhibin B level, Decreased serum estrad... OMIM:619146
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Decreased response to growth hormone stimulation test, Cerebral atrophy, Hippocampal atrophy, Pan... OMIM:618922
Orofaciodigital Syndrome Type 2
High palate, Conductive hearing impairment, Protruding ear, Agenesis of central incisor, Taurodon... ORPHA:2751
Tsh-Secreting Pituitary Adenoma
Impotence, Central adrenal insufficiency, Decreased fertility in males, Increased circulating pro... ORPHA:91347
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Primary amenorrhea OMIM:233300
Ritscher-Schinzel Syndrome 1
Decreased response to growth hormone stimulation test, Cleft palate, Micrognathia, Adrenal hypopl... OMIM:220210
Immunodeficiency 76
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Splenomegaly OMIM:619164
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormality of thyroid physiology, Decreased thyroid-stimulating hormone level, Decreased circula... ORPHA:95715
Oculocerebrorenal Syndrome Of Lowe
Abnormal calcium-phosphate regulating hormone level, Cheilitis, Generalized hypopigmentation, Abn... ORPHA:534
Pycnodysostosis
High palate, Dental malocclusion, Obtuse angle of mandible, Persistence of primary teeth, Decreas... ORPHA:763
Amelogenesis Imperfecta, Type Iv
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Taurodontia, Amelogenesis imperfecta OMIM:104510
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased response to growth hormone stimulation test, Decreased circulating androgen concentrati... ORPHA:293978
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Decreased testicula... ORPHA:399808
Ciliary Dyskinesia, Primary, 38
Conductive hearing impairment, Infertility, Chronic otitis media, Chronic sinusitis, Absent inner... OMIM:618063
Mpdu1-Cdg
Prominent frontal sinuses, Decreased response to growth hormone stimulation test, Thin vermilion ... ORPHA:79323
Septopreoptic Holoprosencephaly
Central diabetes insipidus, Perisylvian polymicrogyria, Precocious puberty, Anterior hypopituitarism ORPHA:280195
Frontorhiny
Congenital conductive hearing impairment, Cleft palate, Bifid tongue, Low-set, posteriorly rotate... ORPHA:391474
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia OMIM:618987
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Hydrocele testis, Low-set ears, Notched primary central incisor OMIM:620062
Coffin-Siris Syndrome 9
High palate, Decreased response to growth hormone stimulation test, Everted lower lip vermilion, ... OMIM:615866
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Cleft upper lip, Anterior hypopituitarism, Cleft palate OMIM:601016
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Elevated circulating luteinizing hormone level, Decreased circulating follicle stimu... OMIM:229070
Schimke Immuno-Osseous Dysplasia
Hypermelanotic macule, Hypodontia, Pancreatitis, Microdontia, Multiple lentigines, Abnormality of... ORPHA:1830
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Abnormal pinna morphology, Everted lower lip vermilion, Long philtrum, Posterior pituitary hypopl... ORPHA:75389
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... OMIM:212050
Pallister-Hall-Like Syndrome
Cleft palate, Hypothalamic hamartoma, Micrognathia, Anterior hypopituitarism, Median cleft lip, M... OMIM:241800
Aarskog-Scott Syndrome
Large earlobe, Cleft upper lip, Testicular atrophy, Decreased serum testosterone concentration, C... OMIM:305400
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Panhypopituitarism, Anterior hypopituitarism, Increased circulating pro... ORPHA:91351
Alstrom Syndrome
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Otitis media, Hypergonad... OMIM:203800
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Decreased response to growth hormone stimulation test, Compensated hypothyroidism, Cholesteatoma,... OMIM:610978
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Panhypopituitarism, Anterior hypopituita... ORPHA:91350
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Infertility, Decreased serum testosterone concentration, Streak ovary, Primary amenorrhea, Decrea... ORPHA:168563
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia OMIM:616941
Hypogonadism-Cataract Syndrome
Infertility, Elevated circulating follicle stimulating hormone level, Male hypogonadism, Hypogona... OMIM:240950
Somatomammotropinoma
Amenorrhea, Pituitary growth hormone cell adenoma, Pituitary adenoma, Elevated circulating growth... ORPHA:314769
Chromosome Xq27.3-Q28 Duplication Syndrome
Decreased serum testosterone concentration, Cryptorchidism, Thin vermilion border, Decreased test... OMIM:300869
Central Precocious Puberty
Hypothalamic hamartoma, Premature thelarche, Isosexual precocious puberty, Cafe-au-lait spot, Inc... ORPHA:759
Galloway-Mowat Syndrome 6
High palate, Wide mouth, Cerebellar vermis atrophy, Decreased response to growth hormone stimulat... OMIM:618347
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Decreased response to growth hormone stimulation test OMIM:225755
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Early sperm... OMIM:619949
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Decreased response to growth hormone stimulation test, Oligodontia, Progressive hearing impairmen... OMIM:619234
Immunodeficiency 13
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Idiopathic Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 concentr... ORPHA:95717
Familial Thyroid Dyshormonogenesis
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... ORPHA:95716
Premature Ovarian Failure 16
Reduced antral follicle count, Elevated circulating follicle stimulating hormone level, Decreased... OMIM:618723
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Gonadotropin deficiency, Decreased testicular ... OMIM:614837
Giant Axonal Neuropathy
Abnormality of the pituitary gland ORPHA:643
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, B lymphocytopenia, Pancytopenia OMIM:616873
Temtamy Preaxial Brachydactyly Syndrome
Abnormal spaced incisors, Narrow mouth, Tooth malposition, Hypodontia, Abnormality of the dentiti... ORPHA:363417
Woodhouse-Sakati Syndrome
Anodontia, Protruding ear, Hyperinsulinemia, Decreased serum testosterone concentration, Decrease... ORPHA:3464
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Ovarian cyst, Decreased circulating cortisol level, Primary amenorrhea, Abnormal response to ACTH... ORPHA:90793
Duplication Of The Pituitary Gland
Abnormality of the pituitary gland, Wide mouth, Abnormality of the tongue, Supernumerary tooth, A... ORPHA:314621
Blue Diaper Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 concentr... ORPHA:94086
Ovarian Dysgenesis 9
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Primary amenorrhea, Decr... OMIM:619665
Cohen Syndrome
Macrodontia of permanent maxillary central incisor, Decreased response to growth hormone stimulat... OMIM:216550
Igg4-Related Thyroid Disease
Abnormality of the pituitary gland, Graves disease, Sialadenitis, Euthyroid goiter, Pancreatic fi... ORPHA:64744
Chromosome 18Q Deletion Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Cleft upper lip, U-Shaped upper ... OMIM:601808
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:66628
Ovarian Dysgenesis 4
Elevated circulating follicle stimulating hormone level, Primary amenorrhea, Decreased serum estr... OMIM:616185
Hypertriglyceridemia 1
Hypopituitarism OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypopituitarism OMIM:144600
Fanconi Anemia, Complementation Group I
Conductive hearing impairment, Decreased response to growth hormone stimulation test, Optic nerve... OMIM:609053
Ciliary Dyskinesia, Primary, 2
Infertility, Sinusitis, Otitis media, Hearing impairment, Absent inner and outer dynein arms OMIM:606763
Premature Ovarian Failure 20
Female infertility, Elevated circulating luteinizing hormone level, Elevated circulating follicle... OMIM:619938
Acromegaly
Pituitary growth hormone cell adenoma, Abnormality of the endocrine system, Elevated circulating ... ORPHA:963
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Prostatitis, Decreased response to growth hormone stimulation test, Delayed puberty, R... OMIM:307200
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:179494
Immunodeficiency, Common Variable, 10
Decreased response to growth hormone stimulation test, Central adrenal insufficiency, Abnormal re... OMIM:615577
Mosaic Variegated Aneuploidy Syndrome 2
Low-set ears, Narrow mouth, Decreased response to growth hormone stimulation test, Micrognathia, ... OMIM:614114
Deeah Syndrome
High palate, Low-set ears, Narrow mouth, Narrow palate, Exocrine pancreatic insufficiency, Crypto... OMIM:619004
Myasthenic Syndrome, Congenital, 22
Tented upper lip vermilion, Decreased response to growth hormone stimulation test OMIM:616224
Acromelic Frontonasal Dysostosis
Cleft upper lip, U-Shaped upper lip vermilion, Gray matter heterotopia, Cleft palate, Periventric... OMIM:603671
Ovarian Dysgenesis 10
Hypoplasia of the ovary, Streak ovary, Elevated circulating luteinizing hormone level, Primary am... OMIM:619834
Nelson Syndrome
Type II diabetes mellitus, Adrenocorticotropic hormone excess, Increased circulating cortisol lev... ORPHA:199244
Temtamy Preaxial Brachydactyly Syndrome
Cleft palate, Diastema, Microdontia, Optic atrophy, Deep philtrum, Talon cusp, Bilateral sensorin... OMIM:605282
Premature Ovarian Failure 6
Female infertility, Streak ovary, Elevated circulating luteinizing hormone level, Primary amenorr... OMIM:612310
African Trypanosomiasis
Infertility, Abnormality of the endocrine system, Impotence, Abnormal prolactin level, Abnormalit... ORPHA:3385
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Abnormal hypothalamus morphology, Hypergon... OMIM:614963
Premature Ovarian Failure 10
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypo... OMIM:612885
Spermatogenic Failure 28
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... OMIM:618086
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Perisylvian polymicrogyria, Central adrenal insufficiency, Primary amenorrhea, Decreased inhibin ... ORPHA:98754
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Perisylvian polymicrogyria, Central adrenal insufficiency, Primary amenorrhea, Decreased inhibin ... ORPHA:177901
Agammaglobulinemia 8B, Autosomal Recessive
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Splenomegaly, B Acute Lymphoblast... OMIM:619824
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Adrenocorticotropic hormone deficiency, Graves disease, Pituitary adenoma, De... ORPHA:199299
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplasia of the thymus, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transformatio... OMIM:619313
Meier-Gorlin Syndrome 6
Conductive hearing impairment, Microretrognathia, Decreased response to growth hormone stimulatio... OMIM:616835
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Testicular microlithiasis, Ovarian cyst, Abnormality ... OMIM:228300
Cog2-Cdg
Small pituitary gland ORPHA:435934
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Perisylvian polymicrogyria, Central adrenal insufficiency, Primary amenorrhea, Decreased inhibin ... ORPHA:98793
Diabetes Insipidus, Neurohypophyseal, X-Linked
Central diabetes insipidus OMIM:304900
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Narrow palate, Decreased response to growth hormone stimulation test, Cleft p... OMIM:618223
Premature Ovarian Failure 8
Ovarian neoplasm, Streak ovary, Elevated circulating luteinizing hormone level, Primary amenorrhe... OMIM:615723
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Primary amenorrhea, Secondary amenorrhea, Elevate... OMIM:612964
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia ORPHA:277
Pituitary Hormone Deficiency, Combined, 6
Ectopic posterior pituitary OMIM:613986
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Perisylvian polymicrogyria, Central adrenal insufficiency, Primary amenorrhea, Decreased inhibin ... ORPHA:177904
Premature Ovarian Failure 18
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Irregular menstruation, ... OMIM:619203
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, T lymphocytopenia OMIM:601457
Temple Syndrome
Precocious puberty, Type II diabetes mellitus, Decreased response to growth hormone stimulation t... ORPHA:254516
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Septooptic Dysplasia
Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Anterior pituitary... OMIM:182230
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ... OMIM:607594
Charge Syndrome
Cleft palate, Overfolded helix, Delayed eruption of teeth, Optic atrophy, Abnormality of the inne... ORPHA:138
Srd5A3-Cdg
Spotty hyperpigmentation, Decreased response to growth hormone stimulation test, Hypothyroidism, ... ORPHA:324737
Immunodeficiency 98 With Autoinflammation, X-Linked
Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Type I diabetes mellitus, Ne... OMIM:301078
Woodhouse-Sakati Syndrome
Sensorineural hearing impairment, Anodontia, Protruding ear, Decreased serum testosterone concent... OMIM:241080
Agammaglobulinemia 2, Autosomal Recessive
Absent circulating B cells, Abnormal T cell morphology OMIM:613500
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD... OMIM:150550
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... ORPHA:231154
Chromosome Xq26.3 Duplication Syndrome
Pituitary adenoma, Elevated circulating growth hormone concentration, Increased circulating prola... OMIM:300942
Adrenocortical Carcinoma
Paradoxical increased cortisol secretion on dexamethasone suppression test, Adrenocorticotropic h... ORPHA:1501
Prader-Willi-Like Syndrome
Perisylvian polymicrogyria, Central adrenal insufficiency, Primary amenorrhea, Decreased inhibin ... ORPHA:398073
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Absent nipple, Taurodontia, Periorbital hyperpigmentation, Hypodontia, Everted lower lip vermilio... OMIM:305100
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 concentr... ORPHA:226313
Premature Ovarian Failure 11
Oligomenorrhea, Secondary amenorrhea, Elevated circulating follicle stimulating hormone level OMIM:616946
Pallister-Hall Syndrome
Cleft upper lip, Precocious puberty, Decreased response to growth hormone stimulation test, Cleft... OMIM:146510
Premature Ovarian Failure 14
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:618014
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Sensorineural hearing impairment, Narrow mouth, Cerebral cortical atrophy, Decreased response to ... OMIM:616007
Premature Ovarian Failure 13
Amenorrhea, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Female infer... OMIM:617442
46,Xy Sex Reversal 11
Decreased serum testosterone concentration, Absence of pubertal development, Elevated circulating... OMIM:273250
Monosomy 18Q
Sensorineural hearing impairment, High palate, Wide mouth, Open mouth, Short philtrum, Bilateral ... ORPHA:1600
Holoprosencephaly 7
Hypoplasia of the premaxilla, Panhypopituitarism, Fusion of the left and right thalami, Bilateral... OMIM:610828
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, B lymphocytopenia OMIM:612692
Hartsfield Syndrome
Cleft upper lip, Low-set ears, Cleft palate, Gonadotropin deficiency, Hypoplasia of the frontal b... OMIM:615465
Genetic Transient Congenital Hypothyroidism
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... ORPHA:226316
Myoectodermal Gonadal Dysgenesis Syndrome
Sensorineural hearing impairment, Hypodontia, Overfolded helix, Thin vermilion border, Elevated c... OMIM:618419
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, Absent circulating B cells, B lymphocytope... OMIM:619705
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Wide mouth, Decreased response to growth hormone stimulation test, Deep philtrum, Low-set ears, P... OMIM:617260
Fanconi Anemia, Complementation Group F
Conductive hearing impairment, Decreased response to growth hormone stimulation test, Microtia, H... OMIM:603467
Prader-Willi Syndrome
Perisylvian polymicrogyria, Central adrenal insufficiency, Abnormality of the dentition, Primary ... ORPHA:739
Hypothyroidism Due To Tsh Receptor Mutations
Increased radioactive iodine uptake, Decreased circulating T4 concentration, Impaired sensitivity... ORPHA:90673
Juberg-Hayward Syndrome
Cleft upper lip, Decreased response to growth hormone stimulation test OMIM:216100
Precocious Puberty, Central, 1
Hypothyroidism, Elevated circulating luteinizing hormone level, Elevated circulating follicle sti... OMIM:176400
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Hemolytic anemia, Hypothyroidism, Type ... OMIM:606367
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Narrow mouth, Precocious puberty, Decreased response to growth hormone stimulation test, High, na... ORPHA:96182
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Female infertility, Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizin... ORPHA:572333
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Neutropenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Hepatosplenomegal... OMIM:618986
Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:300068
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, Perianal abscess, B lymphocytopenia, T lymphocytopenia OMIM:618108
Solitary Median Maxillary Central Incisor
Cleft upper lip, Decreased response to growth hormone stimulation test, Prominent median palatal ... OMIM:147250
Histiocytosis-Lymphadenopathy Plus Syndrome
Sensorineural hearing impairment, Decreased response to growth hormone stimulation test, Hypergon... OMIM:602782
Immunodeficiency 36
Lymphopenia, Splenomegaly, B lymphocytopenia, Chronic lymphatic leukemia, Decreased proportion of... OMIM:616005
Holoprosencephaly
Abnormal antihelix morphology, Tooth agenesis, Panhypopituitarism, External ear malformation, Ant... ORPHA:2162
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Dens in dente, Hypodontia, Macrodontia, Bifid uvula, Enamel hypoplasia, Underfolded helix, Mandib... OMIM:263540
Tooth Agenesis, Selective, X-Linked, 1
Anodontia, Tooth agenesis, Agenesis of premolar, Hypodontia, Agenesis of molar, Agenesis of later... OMIM:313500
Pseudohypoparathyroidism Type 1B
Decreased response to growth hormone stimulation test, Elevated circulating parathyroid hormone l... ORPHA:94089
45,X/46,Xy Mixed Gonadal Dysgenesis
Increased circulating gonadotropin level, High palate, Chordee, Decreased serum testosterone conc... ORPHA:1772
Noonan Syndrome 12
Decreased response to growth hormone stimulation test OMIM:618624
Mu-Heavy Chain Disease
Anemia, Abnormal B cell count, Splenomegaly ORPHA:100024
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Cleft upper lip, Fair hair, Cryptorchidism, Decreased response to growth hormone stimulation test... OMIM:604292
Immunodeficiency 68
Abscess, Abnormal natural killer cell count, B lymphocytopenia, T lymphocytopenia OMIM:612260
Tbck-Related Intellectual Disability Syndrome
Sensorineural hearing impairment, Central adrenal insufficiency, Hyperthyroidism, Decreased respo... ORPHA:488632
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal antihelix morphology, Abnormal pinna morphology, Decreased circulating androgen concentr... ORPHA:95699
Boomerang Dysplasia
Cryptorchidism, Decreased response to growth hormone stimulation test ORPHA:1263
Microphthalmia, Syndromic 6
High palate, Uplifted earlobe, Protruding ear, Cerebral cortical atrophy, Cryptorchidism, Cleft p... OMIM:607932
Cardiofaciocutaneous Syndrome 4
Decreased response to growth hormone stimulation test, Optic nerve hypoplasia, Multiple lentigine... OMIM:615280
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Cleft upper lip, Conductive hearing impairment, Fair hair, Decreased response to growth hormone s... OMIM:129900
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
B lymphocytopenia, Decreased proportion of memory B cells ORPHA:70593
Autoimmune Polyendocrinopathy Type 3
Thymoma, Graves disease, Hypergonadotropic hypogonadism, Leukopenia, Xerostomia, Autoimmune throm... ORPHA:227982
Immunodeficiency 70
Decreased proportion of CD4-positive helper T cells, B lymphocytopenia OMIM:618969
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Sensorineural hearing impairment, Adrenocorticotropic hormone deficiency, Decreased response to g... ORPHA:293987
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Decreased response to growth hormone stimulation test OMIM:245590
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Lymphopenia, Splenomegaly, Aplasia of the thymus, Severe B lymphocytopenia, Eosinophilia, Autoimm... OMIM:102700
Leydig Cell Hypoplasia
Decreased serum testosterone concentration, Cryptorchidism, Hypergonadotropic hypogonadism, Femal... ORPHA:755
Immunodeficiency, Common Variable, 8, With Autoimmunity
Splenomegaly, Autoimmune thrombocytopenia, B lymphocytopenia, Hypothyroidism, Decreased proportio... OMIM:614700
Shwachman-Diamond Syndrome
Sinusitis, Exocrine pancreatic insufficiency, Decreased response to growth hormone stimulation te... ORPHA:811
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Aplasia of the thymus, Splenomegaly, Abnormally low T cell receptor excision circle ... OMIM:602450
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Thrombocytopenia, B lymphocytopenia, Decreased proportion of memory B cells OMIM:618048
Culler-Jones Syndrome
Cleft upper lip, Cleft palate, Hypopituitarism, Ectopic posterior pituitary, Hypogonadism, Crypto... OMIM:615849
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Agenesis of molar, Supernumerary tooth, Hypogonadotropic hypogonadism, Diastema, Microdontia, Del... OMIM:619718
Frasier Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Decreased serum estradiol, Incr... ORPHA:347
Acth Deficiency, Isolated
Decreased circulating cortisol level, Adrenal hypoplasia, Adrenocorticotropic hormone deficiency OMIM:201400
Ovarian Dysgenesis 3
Female infertility, Elevated circulating follicle stimulating hormone level, Elevated circulating... OMIM:614324
Estrogen Resistance Syndrome
Hyperinsulinemia, Absence of pubertal development, Primary amenorrhea, Absence of secondary sex c... ORPHA:785
Ovarian Dysgenesis 8
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:618187
Complete Androgen Insensitivity Syndrome
Increased serum testosterone level, Increased antimullerian hormone level, Abnormal circulating f... ORPHA:99429
Autoimmune Polyendocrinopathy Type 4
Thymoma, Hypergonadotropic hypogonadism, Leukopenia, Xerostomia, Autoimmune thrombocytopenia, Mac... ORPHA:227990
Combined Immunodeficiency Due To Dock8 Deficiency
B lymphocytopenia, T lymphocytopenia ORPHA:217390
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Enamel hypoplasia, Taurodontia, Pulp calcification OMIM:211900
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypothyroidism, Hypopituitarism OMIM:619013
46,Xy Sex Reversal 1
Elevated circulating luteinizing hormone level, Primary amenorrhea, Abnormality of the menstrual ... OMIM:400044
Silver-Russell Syndrome 1
Decreased response to growth hormone stimulation test, Micrognathia, Testicular seminoma, Downtur... OMIM:180860
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
High palate, Cleft upper lip, Gingival overgrowth, Decreased response to growth hormone stimulati... OMIM:213980
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Increased pi... ORPHA:90674
Semilobar Holoprosencephaly
Sensorineural hearing impairment, High palate, Abnormality of the endocrine system, Decreased res... ORPHA:220386
Alobar Holoprosencephaly
Sensorineural hearing impairment, High palate, Abnormality of the endocrine system, Decreased res... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Sensorineural hearing impairment, High palate, Abnormality of the endocrine system, Decreased res... ORPHA:93926
Lobar Holoprosencephaly
Sensorineural hearing impairment, High palate, Abnormality of the endocrine system, Decreased res... ORPHA:93924
Tooth Agenesis, Selective, 3
Oligodontia, Oligodontia of primary teeth, Microdontia, Anhidrosis, Agenesis of permanent molar OMIM:604625
Prader-Willi Syndrome Due To Translocation
High palate, Wide mouth, Cleft palate, Carious teeth, Retrognathia, Hypogonadotropic hypogonadism... ORPHA:177907
Prader-Willi Syndrome
Adrenal insufficiency, Infertility, Type II diabetes mellitus, Hyperinsulinemia, Precocious puber... OMIM:176270
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Decreased serum testosterone concentration, Elevated circulating luteinizing hormone level, Breas... ORPHA:3044
Immunodeficiency 92
Lymphocytosis, Leukocytosis, B lymphocytopenia, Thrombocytosis, Decreased proportion of class-swi... OMIM:619652
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Decreased response to ... ORPHA:67045
Microform Holoprosencephaly
Cleft palate, Panhypopituitarism, Short philtrum, Maternal diabetes, Oral cleft, Hypothyroidism, ... ORPHA:280200
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, High palate, Decreased response ... ORPHA:444077
Snakebite Envenomation
Gingival bleeding, Hypopituitarism ORPHA:449285
46,Xy Partial Gonadal Dysgenesis
Adrenal insufficiency, Ovarian gonadoblastoma, Decreased serum testosterone concentration, Crypto... ORPHA:251510
Wiedemann-Steiner Syndrome
High palate, Decreased response to growth hormone stimulation test, Long philtrum, Low-set ears, ... ORPHA:319182
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased serum testosterone concentration, Decreased circulating androgen concentration, Elevate... ORPHA:90796
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphopenia, Eosinophilia, Hepatosplenomegaly, Abnormal B cell count, Abno... ORPHA:331206
Partial Androgen Insensitivity Syndrome
Abnormal circulating estrogen level, Increased serum testosterone level, Increased antimullerian ... ORPHA:90797
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Chordee, Protruding ear, Abnormality of the endocrine system, Supernumerary tooth, Cryptorchidism... ORPHA:268261
Charge Syndrome
Aplasia of the semicircular canal, Cleft palate, Aplasia/Hypoplasia of the thymus, Parathyroid hy... OMIM:214800
Acromelic Frontonasal Dysplasia
Wide mouth, Median cleft palate, Hypopituitarism, Median cleft lip, Cryptorchidism, Anterior pitu... ORPHA:1827
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Retrognathia, Pituitary hypothyroidism, Cr... OMIM:615926
Turner Syndrome Due To Structural X Chromosome Anomalies
High palate, Hyperinsulinemia, Female infertility, Abnormality of the dentition, Primary amenorrh... ORPHA:99413
Turner Syndrome
High palate, Hyperinsulinemia, Female infertility, Abnormality of the dentition, Primary amenorrh... ORPHA:881
Mosaic Monosomy X
High palate, Hyperinsulinemia, Female infertility, Abnormality of the dentition, Primary amenorrh... ORPHA:99228
Monosomy X
High palate, Hyperinsulinemia, Female infertility, Abnormality of the dentition, Primary amenorrh... ORPHA:99226
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Generalized bronze hyperpigmentation, Decreased circulating aldosterone level, Adrenocorticotropi... ORPHA:289548
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Generalized bronze hyperpigmentation, Decreased circulating aldosterone level, Adrenocorticotropi... ORPHA:168558
Dominant Beta-Thalassemia
Hypoparathyroidism, Adrenal insufficiency, Abnormality of the dentition, Hyperplasia of the maxil... ORPHA:231226
46,Xy Sex Reversal 3
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:612965
X-Linked Lymphoproliferative Disease
Histiocytosis, Lymphocytosis, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Aplastic anemia... ORPHA:2442
Acrodysostosis With Multiple Hormone Resistance
Elevated calcitonin, Fair hair, Cryptorchidism, Decreased response to growth hormone stimulation ... ORPHA:280651
Ppoma
Cholelithiasis, Neoplasm of the pancreas, Pituitary adenoma, Abnormality of the thyroid gland, El... ORPHA:97278
Grfoma
Cholelithiasis, Neoplasm of the pancreas, Pituitary adenoma, Abnormality of the thyroid gland, El... ORPHA:97261
Gabriele-De Vries Syndrome
High palate, Cryptorchidism, Decreased response to growth hormone stimulation test, Malar flatten... ORPHA:506358
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Exocrine pancreatic insufficiency, Lymphopenia, Cryptorchidism, Severe B lymphocytopenia, Accesso... OMIM:620005
Vipoma
Neoplasm of the pancreas, Elevated calcitonin, Pituitary adenoma, Abnormality of the thyroid glan... ORPHA:97282
Hypothyroidism, Congenital, Nongoitrous, 2
Congenital hypothyroidism, Ectopic thyroid, Hypothyroidism, Elevated circulating thyroid-stimulat... OMIM:218700
Koolen-De Vries Syndrome Due To A Point Mutation
Protruding ear, Precocious puberty, Recurrent otitis media, Cryptorchidism, Decreased response to... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Protruding ear, Precocious puberty, Recurrent otitis media, Cryptorchidism, Decreased response to... ORPHA:363958
Peters Plus Syndrome
Cleft upper lip, Conductive hearing impairment, Wide mouth, Cerebral cortical atrophy, Cleft pala... ORPHA:709
Pearson Syndrome
Hypoparathyroidism, Adrenal insufficiency, Exocrine pancreatic insufficiency, Decreased response ... ORPHA:699
Beta-Thalassemia Major
Hypoparathyroidism, Adrenal insufficiency, Abnormality of the dentition, Hyperplasia of the maxil... ORPHA:231214
Agammaglobulinemia 9, Autosomal Recessive
Absent circulating B cells, Thrombocytopenia OMIM:619693
Somatostatinoma
Neoplasm of the pancreas, Medullary thyroid carcinoma, Abnormality of the thyroid gland, Pituitar... ORPHA:97283
Glucagonoma
Neoplasm of the pancreas, Pituitary adenoma, Abnormality of the thyroid gland, Elevated circulati... ORPHA:97280
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Abnormality of the endocrine system, Neutropenia in presence of anti-neutropil antibodies, Lympho... ORPHA:391487
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Leukopenia, B lymphocytopenia, Neutropenia, Bone marrow hypocellularity, Anemia, Thr... ORPHA:508542
Maternal Uniparental Disomy Of Chromosome 2
Chordee, Decreased response to growth hormone stimulation test, Hypothyroidism, Bilateral cryptor... ORPHA:96179
Spondyloenchondrodysplasia
Dental malocclusion, Decreased response to growth hormone stimulation test, Delayed eruption of t... ORPHA:1855
Fanconi Anemia, Complementation Group W
Decreased response to growth hormone stimulation test OMIM:617784
Wiedemann-Rautenstrauch Syndrome
Abnormality of the ear, Abnormality of the dentition, Short philtrum, Polymicrogyria, Increased c... ORPHA:3455
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypothyroidism, Hypopituitarism ORPHA:90065
Witteveen-Kolk Syndrome
High palate, Short philtrum, Open mouth, Thick lower lip vermilion, High, narrow palate, Cupped e... OMIM:613406
Ovarian Hyperstimulation Syndrome
Increased serum testosterone level, Ovarian cyst, Hemorrhagic ovarian cyst, Increased circulating... ORPHA:64739
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transf... ORPHA:35078
Autoinflammatory Disease, Systemic, X-Linked
Hepatosplenomegaly, B lymphocytopenia, Neutropenia OMIM:301081
Alg12-Cdg
B lymphocytopenia, Patent ductus arteriosus, Cryptorchidism, Thrombocytopenia, Decreased serum in... ORPHA:79324
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Splenomegaly, Hypochromic microcytic anemia, Schistocytosis, B lymphocytopenia, Sideroblastic anemia OMIM:616084
Ichthyosis And Male Hypogonadism
Hypogonadotropic hypogonadism, Gonadotropin deficiency, Male hypogonadism OMIM:308200
46,Xx Sex Reversal 1
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... OMIM:400045
Steinert Myotonic Dystrophy
Cholelithiasis, Secondary hyperparathyroidism, Testicular atrophy, Hyperinsulinemia, Decreased se... ORPHA:273
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Abnormal ... ORPHA:221139
Igg4-Related Ophthalmic Disease
Prostatitis, Orchitis, Pancreatitis, Sialadenitis, Eosinophilia, Enlarged lacrimal glands, Abnorm... ORPHA:449563
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
High palate, Wide mouth, Delayed eruption of teeth, Congenital Horner syndrome, Thyroid hypoplasi... OMIM:619503
Isolated Biliary Atresia
Bile duct proliferation, Hypopituitarism, Atretic gallbladder, Hypothyroidism ORPHA:30391
Lacrimoauriculodentodigital Syndrome
Aplasia of the parotid gland, Hypodontia, Absence of Stensen duct, Cupped ear, Mixed hearing impa... OMIM:149730
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Severe B lymphocytopenia, B lymphocytopenia, Pancreatic hypoplasia, Biliary hyper... ORPHA:83617
Agammaglobulinemia, X-Linked
Prostatitis, B lymphocytopenia, T lymphocytopenia, Neutropenia, Anemia OMIM:300755
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Thrombocytopenia, B lymphocytopenia, T lymphocytopenia OMIM:251260
Alström Syndrome
Hyperinsulinemia, Pancreatitis, Decreased fertility in males, Otitis media, Hypergonadotropic hyp... ORPHA:64
Agammaglobulinemia 1, Autosomal Recessive
Rectal abscess, B lymphocytopenia, Neutropenia OMIM:601495
Axenfeld-Rieger Syndrome, Type 1
Hypodontia, Decreased response to growth hormone stimulation test, Short philtrum, Oligodontia, M... OMIM:180500
Igg4-Related Kidney Disease
Prostatitis, Pancreatitis, Sialadenitis, Eosinophilia, Abnormality of the anterior pituitary, Thy... ORPHA:449395
Testicular Agenesis
Vanishing testis, Decreased serum testosterone concentration, Increased circulating gonadotropin ... ORPHA:325124
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Abnormality of the endocrine system, Precocious puberty, Cryptorchidism, Increased circulating pr... ORPHA:438213
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Anemia... 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

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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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