Gene Summary

Name:
PHD finger protein 6
Synonyms:
4931428F02Rik,  2700007B13Rik

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
abnormal auditory brainstem response Phf6tm1b(EUCOMM)Wtsi HET Early adult 1.60×10-05
preweaning lethality, complete penetrance Phf6tm1b(EUCOMM)Wtsi 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 Phf6 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 Phf6 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Borjeson-Forssman-Lehmann Syndrome
Obesity, EEG abnormality, Seizure OMIM:301900
Borjeson-Forssman-Lehmann Syndrome
Seizure, Truncal obesity ORPHA:127

The table below shows human diseases predicted to be associated to Phf6 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Lymphoblastic Leukemia, Acute, With Lymphomatous Features
T-cell acute lymphoblastic leukemias, Acute lymphoblastic leukemia, Lymphoma OMIM:247640
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia OMIM:607785
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder, Malignant eosinophil proliferation OMIM:131440
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytoh... OMIM:153600
Leukemia, Acute, X-Linked
Acute leukemia OMIM:308960
Leukemia, Acute Lymphoblastic
Acute lymphoblastic leukemia OMIM:613065
Leukemia, Acute Monocytic
Acute monocytic leukemia OMIM:151380
Leukemia, Acute Myeloid
Acute myeloid leukemia OMIM:601626
Myeloproliferative Disease, Autosomal Recessive
Myeloproliferative disorder OMIM:254700
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Leukemia, ... OMIM:133180
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Hypothyroidism, Central, With Testicular Enlargement
Reduced circulating prolactin concentration, Hypothyroidism, Overweight, Inappropriately normal t... OMIM:300888
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 9
Leukemia, Leukopenia OMIM:620400
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia, Myelodysplasia OMIM:252270
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Colon cancer, Acute myeloid leukemia, Adenomatous colonic polyposis OMIM:246470
Isolated Growth Hormone Deficiency, Type Iv
Decreased response to growth hormone stimulation test, Decreased serum insulin-like growth factor... OMIM:618157
Mismatch Repair Cancer Syndrome 2
Glioblastoma multiforme, T-cell acute lymphoblastic leukemias, Colon cancer OMIM:619096
Glioma Susceptibility 3
T-cell acute lymphoblastic leukemias, B Acute Lymphoblastic Leukemia, Medulloblastoma, Nephroblas... OMIM:613029
Pituitary Hormone Deficiency, Combined, 2
Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal... OMIM:262600
Spermatogenic Failure 13
Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent... OMIM:615841
Leukemia, Chronic Lymphocytic, Susceptibility To, 2
Chronic lymphatic leukemia OMIM:109543
Leukemia, Chronic Lymphocytic
Chronic lymphatic leukemia OMIM:151400
Epilepsy, Familial Adult Myoclonic, 1
EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus spikes, Giant s... OMIM:601068
Spermatogenic Failure 14
Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent... OMIM:615842
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Nut Midline Carcinoma
Ewing sarcoma, Neoplasm, Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell ... ORPHA:443167
Spermatogenic Failure, X-Linked, 4
Decreased serum testosterone concentration, Elevated circulating luteinizing hormone level, Eleva... OMIM:301077
Li-Fraumeni Syndrome
Choriocarcinoma, Colon cancer, Stomach cancer, Melanoma, Hodgkin lymphoma, Acute myeloid leukemia... ORPHA:524
Chromosome 14Q32 Duplication Syndrome, 700-Kb
Chronic myelomonocytic leukemia, Acute myeloid leukemia OMIM:616604
Isolated Growth Hormone Deficiency, Type Ii
Decreased response to growth hormone stimulation test, Decreased serum insulin-like growth factor... OMIM:173100
Li-Fraumeni Syndrome
Choriocarcinoma, Acute leukemia, Osteosarcoma, Prostate cancer, Nephroblastoma, Lung adenocarcino... OMIM:151623
Pyknoachondrogenesis
Stillbirth OMIM:265880
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Decreased response to growth hormone stimulation test OMIM:615925
Post-Traumatic Pituitary Deficiency
Decreased response to growth hormone stimulation test, Decreased circulating ACTH concentration, ... ORPHA:95619
Isolated Growth Hormone Deficiency, Type Ib
Decreased response to growth hormone stimulation test, Reduced circulating growth hormone concent... OMIM:612781
Pituitary Carcinoma
Pituitary gonadotropic cell adenoma, Pituitary prolactin cell adenoma, Increased circulating prol... ORPHA:300385
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Lymphoma, Leukopenia, Acute myeloid leukemia, Monocytosis, Myelodysplasia, Refractory anemia OMIM:616871
Fanconi Anemia, Complementation Group G
Anemia, Neutropenia, Thrombocytopenia, Leukemia, Myelodysplasia OMIM:614082
Ane Syndrome
Adrenocorticotropin deficient adrenal insufficiency, Decreased serum testosterone concentration, ... ORPHA:157954
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Failure to thrive, Hypopituitarism, Decreased circulating free T4 concentration, Decreased circul... OMIM:613038
Lymphedema, Primary, With Myelodysplasia
Verrucae, Pancytopenia, Decreased CD4:CD8 ratio, Acute myeloid leukemia, Leukemia, Myelodysplasia OMIM:614038
Leukemia, Chronic Myeloid
Chronic myelogenous leukemia, Ph-positive acute lymphoblastic leukemia OMIM:608232
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Ectopic posterior pituitary, Anterior pituitary agenesis, Absent pituitary stalk, Interrupted pit... OMIM:620303
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... OMIM:619041
Prolactin Deficiency, Isolated
Reduced circulating prolactin concentration OMIM:264110
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphoma, Pancytopenia, Splenomegaly, Lymphocytosis, Neutropenia, Monocytosis, Leukemia, Lymphopr... OMIM:614470
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Obesi... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Obesi... ORPHA:71526
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2
Leukemia, Pancytopenia, Aplastic anemia, Myeloid leukemia OMIM:614743
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy OMIM:601382
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia, M... ORPHA:231401
Resistance To Thyrotropin-Releasing Hormone Syndrome
Increased circulating prolactin concentration, Decreased circulating T4 concentration, Decreased ... ORPHA:99832
Panhypophysitis
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:95513
Myelocytic Leukemia-Like Syndrome, Familial, Chronic
Chronic myelogenous leukemia OMIM:600080
Adenohypophysitis
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:95512
Chromosome 15Q11-Q13 Duplication Syndrome
Impaired ability to form peer relationships, Seizure, Reduced social reciprocity, EEG abnormality... OMIM:608636
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Leukocytosis, Multiple lineage myelodysplasia, Myelodysplasia ORPHA:98827
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Decreased testicular size, Ty... ORPHA:453533
Functioning Gonadotropic Adenoma
Pituitary gonadotropic cell adenoma, Decreased response to growth hormone stimulation test, Panhy... ORPHA:91348
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hemophagocytosis, Colon cancer, Hepatosplenomegaly, Pancytopenia, Hodgkin lymphoma, Hematological... ORPHA:158057
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Histiocytosis ORPHA:157991
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior, EEG abnormality, Seizure ORPHA:436151
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Adrenocorticotrop... ORPHA:231720
Fanconi Anemia, Complementation Group D1
Acute myeloid leukemia, T-cell acute lymphoblastic leukemias, Failure to thrive OMIM:605724
Pituicytoma
Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Increased circ... ORPHA:251623
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal... OMIM:619755
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
N Syndrome
Leukemia, Neoplasm OMIM:310465
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Small pituitary gland, Central adrenal insufficiency, Reduced subcutaneous adipose tissue, Hypogo... OMIM:612079
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Truncal obe... OMIM:618160
Non-Functioning Pituitary Adenoma
Hypopituitarism, Central adrenal insufficiency, Female hypogonadism, Male hypogonadism, Decreased... ORPHA:91349
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Breast hypoplasia,... ORPHA:2235
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia, Myelodysplasia OMIM:610738
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
X-Linked Acrogigantism
Increased circulating insulin-like growth factor 1 concentration, Pituitary adenoma, Increased ci... ORPHA:300373
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte morphology, Myelodysplasia, Macr... ORPHA:86841
Pituitary Hormone Deficiency, Combined, 3
Decreased response to growth hormone stimulation test, Anterior hypopituitarism, Anterior pituita... OMIM:221750
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... ORPHA:320401
Dohle Bodies And Leukemia
Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies OMIM:223350
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia, Myelodysplasia OMIM:185050
Acute Promyelocytic Leukemia
Acute promyelocytic leukemia OMIM:612376
Primary Erythromelalgia
Leukemia ORPHA:90026
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Umbilical hernia, Decreased thyroid-stimulating hormone level, Decre... ORPHA:226307
Cutaneous Neuroendocrine Carcinoma
Neoplasm of the outer ear, Squamous cell carcinoma of the skin, Merkel cell skin cancer, Carcinoi... ORPHA:79140
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Delayed Puberty, Self-Limited
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Delayed puberty, Decre... OMIM:619613
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased serum insulin-like growth f... ORPHA:67045
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Decreased response to growth hormone stimulation test, Panhypopituitarism, Hypothyroidism OMIM:300123
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... ORPHA:75564
Gangliocytoma
Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Adrenocorticotropic hormone excess... ORPHA:251937
Mismatch Repair Cancer Syndrome 1
Adenocarcinoma of the colon, T-cell lymphoma, Leukemia, Lymphoma, Oligodendroglioma, Ependymoma, ... OMIM:276300
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume OMIM:620044
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Small pituitary gland, Hypogonadotropic hypogonadism, Delayed puberty, Cryptorchidism OMIM:612702
Tumor Predisposition Syndrome 2
Meningioma, Juvenile type ovarian granulosa cell tumor, Schwannoma, Ductal carcinoma in situ, Uve... OMIM:619975
Amed Syndrome, Digenic
Failure to thrive, Leukopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia, Myelodysplasia OMIM:619151
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Immunodeficiency, Common Variable, 13
Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome
Hypopituitarism, Type II diabetes mellitus, Reduced circulating growth hormone concentration, Dec... OMIM:620651
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Decreased testicular size, Cryptorchidism OMIM:614880
Sheehan Syndrome
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:91355
Developmental And Epileptic Encephalopathy 108
Small pituitary gland OMIM:620115
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Lymphoma, Chronic myelomonocytic leukemia, Myelodysplasia, Leukocytosis, Splen... ORPHA:98849
Joubert Syndrome 38
Ectopic posterior pituitary, Decreased serum insulin-like growth factor 1, Decreased response to ... OMIM:619476
Pituitary Dwarfism With Large Sella Turcica
Decreased response to growth hormone stimulation test, Hypothyroidism OMIM:262710
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl... ORPHA:2585
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypopituitarism, Decreased circula... ORPHA:90695
Pituitary Apoplexy
Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr... ORPHA:95613
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Lymphopenia, Myelodysplasia, Hemangioma, Acute myeloid leukemia, Eosinophilia, N... ORPHA:486
Ziegler-Huang Syndrome
Hypogonadism, Elevated circulating follicle stimulating hormone level, Cryptorchidism, Anterior p... OMIM:620501
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Decreased circulating luteinizing hormone level, Cryptorchidism, Congenital adrenal hypoplasia OMIM:202150
Panhypopituitarism, X-Linked
Panhypopituitarism OMIM:312000
Prader-Willi Syndrome
Premature adrenarche, Precocious puberty, Small pituitary gland, Decreased circulating gonadotrop... ORPHA:739
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Decreased serum estradiol, Decreased serum testosterone concentration, Hypogonadism, Decreased te... OMIM:616030
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a... OMIM:159550
Septooptic Dysplasia
Decreased response to growth hormone stimulation test, Diabetes insipidus, Anterior pituitary hyp... OMIM:182230
Sim1-Related Prader-Willi-Like Syndrome
Premature adrenarche, Precocious puberty, Small pituitary gland, Central hypothyroidism, Failure ... ORPHA:398079
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Obesity, Ty... OMIM:619326
Fanconi Anemia, Complementation Group T
Anemia, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia OMIM:616435
Congenital Disorder Of Glycosylation, Type Iiq
Small pituitary gland OMIM:617395
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Central hypothyroidism, Decreased testicular size, Hypogonadotropic hyp... OMIM:616113
Cog2-Cdg
Small pituitary gland ORPHA:435934
Meningioma
Decreased serum estradiol, Secondary growth hormone deficiency, Hypothalamic hypothyroidism, Pitu... ORPHA:2495
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Leukocytosis, Splenomegaly, Weight loss, Thrombocytopenia, Abnormal neutrophil co... ORPHA:3226
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Cryptorchidism, Hypogo... OMIM:308750
Pituitary Hormone Deficiency, Combined, 6
Ectopic posterior pituitary, Decreased circulating ACTH concentration, Posterior pituitary hypopl... OMIM:613986
Agammaglobulinemia 8B, Autosomal Recessive
B Acute Lymphoblastic Leukemia, Failure to thrive, Pancytopenia, Splenomegaly, Increased proporti... OMIM:619824
Myoclonic-Astatic Epilepsy
Ataxia, EEG with irregular generalized spike and wave complexes, Atonic seizure, Generalized non-... ORPHA:1942
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast... ORPHA:98850
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased response to growth hormone stimulation test, Obesity, Adrenal insufficiency, Decreased ... OMIM:609734
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Decreased serum estradiol, Decreased serum testosterone concentration, Abs... ORPHA:2232
Premature Ovarian Failure 17
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ... OMIM:619146
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Failure to thrive, Seizure, Inability to walk, Short attention span, Irritability, EEG with gener... OMIM:617864
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Premature adrenarche, Precocious puberty, Decreased circulating gonadotropin concentration, Centr... ORPHA:98754
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased serum estradiol, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulat... OMIM:614842
Thymoma
Aplastic anemia, Imbalanced hemoglobin synthesis, Neoplasm of head and neck, Neoplasm of the thyr... ORPHA:99867
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Decreased serum testosterone concentration, Decreased circulating luteinizing hormone level, Hypo... OMIM:614839
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Premature adrenarche, Precocious puberty, Decreased circulating gonadotropin concentration, Centr... ORPHA:98793
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Leukemia, Nephroblastoma, Meningioma OMIM:602501
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Pituitary Deficiency Due To Rathke Cleft Cysts
Secondary growth hormone deficiency, Adrenocorticotropin deficient adrenal insufficiency, Increas... ORPHA:91350
Magel2-Related Prader-Willi-Like Syndrome
Precocious puberty, Small pituitary gland, Central hypothyroidism, Failure to thrive, Xerostomia,... ORPHA:398069
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Premature adrenarche, Precocious puberty, Decreased circulating gonadotropin concentration, Centr... ORPHA:177904
Childhood Disintegrative Disorder
Mental deterioration, Seizure, Abnormal emotion, Reduced social reciprocity, Social and occupatio... ORPHA:168782
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Premature adrenarche, Precocious puberty, Decreased circulating gonadotropin concentration, Centr... ORPHA:177901
Pituitary Dermoid And Epidermoid Cysts
Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Hyperpituitarism... ORPHA:91351
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Obesity, Cryptorchidism, Adrenocorticotrop... OMIM:615926
Essential Thrombocythemia
Acute leukemia, Leukocytosis, Splenomegaly, Abnormal platelet morphology, Thrombocytosis, Myelody... ORPHA:3318
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Adrenocorticotropin deficient adrenal insufficiency, Failure to thrive, Decreased response to gro... ORPHA:293978
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Aplastic anemia, Pancytopenia, Myeloid leukemia, Anemia, Myelodysplasia OMIM:614742
Myelofibrosis
Splenomegaly, Myeloproliferative disorder, Hemophagocytosis, Extramedullary hematopoiesis OMIM:254450
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Decreased serum testosterone concentration, Decreased testicular size, Hypothalamic gonadotropin-... OMIM:308700
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Anterior pituitary agenesis, Ectopic anterior pituitary gland, Hypop... ORPHA:95494
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Hypogonadism, Decreased testicular size, Elevated circulating luteinizing hormone level, Decrease... OMIM:229070
Culler-Jones Syndrome
Ectopic posterior pituitary, Hypopituitarism, Hypogonadism, Cryptorchidism, Anterior pituitary hy... OMIM:615849
Joubert Syndrome 26
Decreased response to growth hormone stimulation test, Panhypopituitarism, Central hypothyroidism OMIM:616784
Oliver-Mcfarlane Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Hypogonadotropic hypogonad... OMIM:275400
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum estradiol, Decreased serum testosterone concentration, Hypogonadism, Decreased te... OMIM:614897
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Weight loss, Anemia ORPHA:514
Pitt-Hopkins-Like Syndrome 1
Focal impaired awareness seizure, Status epilepticus, Generalized-onset seizure, Reduced social r... OMIM:610042
Fg Syndrome Type 1
Small pituitary gland, Umbilical hernia, Slender build, Inguinal hernia, Cryptorchidism, Progress... ORPHA:93932
Craniopharyngioma
Increased circulating prolactin concentration, Hypopituitarism, Hypogonadism, Obesity, Central ad... ORPHA:54595
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Heari... OMIM:600501
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... OMIM:228300
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Seizure, Inappropriate behavior, Cognitive impairment, Exaggerate... ORPHA:309246
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Obesity, Abnormal hypothalamus morphology,... OMIM:614963
Female Restricted Epilepsy With Intellectual Disability
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:101039
Adrenocortical Carcinoma
Increased circulating cortisol level, Increased urinary cortisol level, Hyperaldosteronism, Incre... ORPHA:1501
Ovarian Dysgenesis 8
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Eunuchoid habitus, Ele... OMIM:618187
Tsh-Secreting Pituitary Adenoma
Increased circulating prolactin concentration, Central adrenal insufficiency, Weight loss, Elevat... ORPHA:91347
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Decreased response to growth hormone stimulation test, Hypogonadism, Cryptorchidism, Hypothyroidi... ORPHA:3363
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased serum testosterone conc... ORPHA:66628
Bonnemann-Meinecke-Reich Syndrome
Decreased response to growth hormone stimulation test ORPHA:1261
Septo-Optic Dysplasia Spectrum
Obesity, Cryptorchidism, Hypohidrosis, Maternal diabetes, Anterior pituitary hypoplasia, Diabetes... ORPHA:3157
Acute Panmyelosis With Myelofibrosis
Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute myeloid leukemia, Lymphocytosis ORPHA:86843
Pituitary Adenoma 1, Multiple Types
Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulating prolactin concentratio... OMIM:102200
Familial Thrombocytosis
Chronic myelogenous leukemia, Splenomegaly, Acute myeloid leukemia, Weight loss, Thrombocytosis, ... ORPHA:71493
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, EEG abnormality, Sensorineural hearing impairment OMIM:617519
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Emotional lability, Exaggerated startle response OMIM:617028
Hyperekplexia-Epilepsy Syndrome
Generalized tonic seizure, EEG with temporal focal spikes, Focal impaired awareness seizure, Exag... ORPHA:163985
Pseudohypoparathyroidism Type 1C
Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Decrease... ORPHA:79444
Chilblain Lupus
Chronic myelomonocytic leukemia ORPHA:90280
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased serum testosterone conc... ORPHA:179494
Hypergonadotropic Hypogonadism-Cataract Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Delayed puberty, I... ORPHA:2410
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, B-cell lymphoma, Increased proportion of t... OMIM:616005
Turcot Syndrome With Polyposis
Glioma, Hepatoblastoma, Brain neoplasm, Desmoid tumors, Leukemia, Basal cell carcinoma, Glioblast... ORPHA:99818
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Absence of pubertal development, Decreased testicular size, Cryptorchidism, Hypogonadotropic hypo... OMIM:614837
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Small pituitary gland OMIM:614195
Lig4 Syndrome
Failure to thrive, Pancytopenia, Myelodysplasia, Thrombocytopenia, Acute lymphoblastic leukemia, ... OMIM:606593
Retinoblastoma
Pinealoma, Lymphoma, Ewing sarcoma, Retinoblastoma, Leukemia, Osteosarcoma OMIM:180200
Syndromic Recessive X-Linked Ichthyosis
Acute leukemia, Testicular seminoma ORPHA:281090
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Acute myeloid le... ORPHA:86839
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Precocious puberty, Increased circulating prolactin concentration, Hypopituitarism, Decreased res... ORPHA:91354
Orthostatic Hypotension 1
Reduced circulating prolactin concentration OMIM:223360
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Decreased response to growth hormone stimulation test, Failure to thrive OMIM:245590
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen... OMIM:601455
Childhood Absence Epilepsy
Myoclonic absence seizure, Depression, Typical absence seizure, Limb myoclonus, EEG with spike-wa... ORPHA:64280
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Pituitary hypothyroidism, Anterior pituitary hypoplasia OMIM:619983
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal op... ORPHA:1215
Chromosome 14Q11-Q22 Deletion Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Failure to thrive, Bilateral cryp... OMIM:613457
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute monocytic leukemia, Lymphoma, Abnormal dense granule content, Abnormal platelet shape, Acut... OMIM:601399
Endocardial Fibroelastosis
Anterior hypopituitarism, Cryptorchidism ORPHA:2022
Pseudohypoparathyroidism Type 1A
Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Decrease... ORPHA:79443
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Non-Acquired Isolated Growth Hormone Deficiency
Delayed puberty, Anterior hypopituitarism, Abdominal obesity ORPHA:631
Metachromatic Leukodystrophy, Juvenile Form
Seizure, Progressive psychomotor deterioration, Decreased nerve conduction velocity, Short attent... ORPHA:309263
Acromelic Frontonasal Dysplasia
Hypopituitarism, Midline central nervous system lipomas, Cryptorchidism, Anterior pituitary hypop... ORPHA:1827
Nasu-Hakola Disease
Acute leukemia ORPHA:2770
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... ORPHA:52901
Mehmo Syndrome
Male hypogonadism, Decreased response to growth hormone stimulation test, Obesity, Delayed pubert... OMIM:300148
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Failure to thrive, Irritability, Atax... OMIM:616881
Autoimmune Hemolytic Anemia, Warm Type
Chronic lymphatic leukemia, Lymphoproliferative disorder, Splenomegaly, Autoimmune hemolytic anemia ORPHA:90033
Metachromatic Leukodystrophy, Adult Form
Memory impairment, Depression, Seizure, Progressive psychomotor deterioration, Difficulty walking... ORPHA:309271
Ataxia-Telangiectasia
Failure to thrive, Lymphoma, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Ab... OMIM:208900
Deeah Syndrome
Decreased response to growth hormone stimulation test, Panhypopituitarism, Exocrine pancreatic in... OMIM:619004
Acth Deficiency, Isolated
Decreased circulating cortisol level, Adrenocorticotropic hormone deficiency, Adrenal hypoplasia OMIM:201400
Pyoderma Gangrenosum
Myelodysplasia, Myeloid leukemia ORPHA:48104
Chromosome Xq26.3 Duplication Syndrome
Pituitary adenoma, Increased circulating prolactin concentration, Hypopituitarism, Elevated circu... OMIM:300942
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials OMIM:617523
Shwachman-Diamond Syndrome 1
Failure to thrive, Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropenia... OMIM:260400
Mohr-Tranebjaerg Syndrome
Optic atrophy, Prelingual sensorineural hearing impairment, Abnormality of somatosensory evoked p... ORPHA:52368
Fanconi Anemia, Complementation Group E
Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia, Small for gesta... OMIM:600901
Early-Onset Autosomal Dominant Alzheimer Disease
Memory impairment, Seizure, Confusion, Myoclonus, Ataxia, Dementia, Semantic dementia, Abnormal s... ORPHA:1020
Pituitary Adenoma 2, Growth Hormone-Secreting
Pituitary adenoma, Elevated circulating growth hormone concentration OMIM:300943
Temple Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Obesity, Type II diabe... ORPHA:254516
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Delayed somatosensory central conduct... OMIM:610532
Fanconi Anemia, Complementation Group A
Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia, Small for gesta... OMIM:227650
Tay-Sachs Disease
Dementia, Psychomotor deterioration, Seizure, Exaggerated startle response OMIM:272800
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty, Decreased circulating luteinizing... OMIM:619761
Kearns-Sayre Syndrome
Anterior hypopituitarism ORPHA:480
Fanconi Anemia, Complementation Group N
Aplastic anemia, Medulloblastoma, Nephroblastoma, Acute myeloid leukemia, Neuroblastoma, Small fo... OMIM:610832
Lig4 Syndrome
Acute leukemia, Pancytopenia, Leukocytosis, Lymphoma ORPHA:99812
Bloom Syndrome
Neoplasm of the skin, Small for gestational age, Lymphoma, Malignant genitourinary tract tumor, N... ORPHA:125
Tatton-Brown-Rahman Syndrome
Obesity, Neuroendocrine neoplasm, Myeloid leukemia ORPHA:404443
Rhyns Syndrome
Decreased response to growth hormone stimulation test, Pituitary hypothyroidism, Anterior hypopit... OMIM:602152
Shwachman-Diamond Syndrome
Normocytic anemia, Aplastic anemia, Increased mean corpuscular volume, Failure to thrive, Pancyto... ORPHA:811
Hypertriglyceridemia 1
Hypopituitarism OMIM:145750
Polycythemia Vera
Acute leukemia, Polycythemia, Leukocytosis, Splenomegaly, Weight loss, Thrombocytosis, Myelodyspl... ORPHA:729
Developmental And Epileptic Encephalopathy 8
Focal impaired awareness seizure, Tonic seizure, Bilateral tonic-clonic seizure, Exaggerated star... OMIM:300607
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Failure to thrive OMIM:615286
Diffuse Cutaneous Mastocytosis
Abnormality of the spleen, Myeloproliferative disorder, Lymphocytosis ORPHA:79456
Pallister-Hall Syndrome
Precocious puberty, Secondary growth hormone deficiency, Umbilical hernia, Hypopituitarism, Panhy... ORPHA:672
X-Linked Hypohidrotic Ectodermal Dysplasia
Type I diabetes mellitus, Hypohidrosis, Anterior hypopituitarism ORPHA:181
Sweet Syndrome
Neoplasm, Leukocytosis, Chronic lymphatic leukemia, Hematological neoplasm, Acute myeloid leukemi... ORPHA:3243
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Small pituitary gland, Flexion contracture OMIM:619479
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Leukemia, Myelodysplasia OMIM:619951
Metachromatic Leukodystrophy, Late Infantile Form
Tip-toe gait, Seizure, Decreased nerve conduction velocity, Gait ataxia, Emotional lability, Prog... ORPHA:309256
Fanconi Anemia, Complementation Group C
Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia, Small for gesta... OMIM:227645
Porphyria Due To Ala Dehydratase Deficiency
Abnormal erythrocyte enzyme concentration or activity, Myeloproliferative disorder ORPHA:100924
Developmental And Epileptic Encephalopathy 68
Status epilepticus, Myoclonus, Failure to thrive, Exaggerated startle response OMIM:618201
Retinoblastoma
Pineoblastoma, Glioma, Lymphoma, Ewing sarcoma, Retinoblastoma, Melanoma, Leiomyosarcoma, Leukemi... ORPHA:790
Multiple Mitochondrial Dysfunctions Syndrome 7
Myoclonic seizure, Seizure, EEG with burst suppression, Infantile spasms, Myoclonus, Irritability... OMIM:620423
Isolated Exencephaly
Posterior pituitary agenesis, Maternal diabetes, Anterior pituitary hypoplasia ORPHA:563612
Tay-Sachs Disease
Memory impairment, Depression, Typical absence seizure, Seizure, Laryngeal dystonia, Inability to... ORPHA:845
Zollinger-Ellison Syndrome
Hyperparathyroidism, Thyroid adenoma, Elevated circulating parathyroid hormone level, Increased c... ORPHA:913
Waldenström Macroglobulinemia
Normocytic anemia, Monoclonal immunoglobulin M proteinemia, Lymphoma, Splenomegaly, Leukemia, Abn... ORPHA:33226
Noonan Syndrome 6
Juvenile myelomonocytic leukemia OMIM:613224
Short Stature-Wormian Bones-Dextrocardia Syndrome
Anterior hypopituitarism, Cryptorchidism, Camptodactyly of finger ORPHA:2863
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Oculogyric crisis, Limb dystonia, Emotional lability, Myoclonus, Irritability, Let... OMIM:608643
Rothmund-Thomson Syndrome Type 1
Neoplasm of the skin, Basal cell carcinoma, Aplastic anemia, Melanoma, Squamous cell carcinoma, A... ORPHA:221008
Hydranencephaly
Dysgenesis of the thalamus, Atrophic pituitary gland, Thalamic edema ORPHA:2177
Rothmund-Thomson Syndrome Type 2
Neoplasm of the skin, Basal cell carcinoma, Aplastic anemia, Lymphoma, Melanoma, Squamous cell ca... ORPHA:221016
Rothmund-Thomson Syndrome
Neoplasm of the skin, Basal cell carcinoma, Aplastic anemia, Melanoma, Squamous cell carcinoma, A... ORPHA:2909
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:276152
Nijmegen Breakage Syndrome
Acute leukemia, Glioma, Lymphoma, Neoplasm, Autoimmune hemolytic anemia, B-cell lymphoma, Cachexi... ORPHA:647
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Nelson Syndrome
Increased circulating cortisol level, Increased circulating prolactin concentration, Pituitary ca... ORPHA:199244
Galloway-Mowat Syndrome 6
Decreased response to growth hormone stimulation test, Hypothyroidism, Decreased body weight OMIM:618347
Bloom Syndrome
Lymphoma, Squamous cell carcinoma, Leukemia, Elevated hemoglobin A1c, Small for gestational age OMIM:210900
Bone Marrow Failure Syndrome 3
Aplastic anemia, Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin ... OMIM:617052
Mosaic Variegated Aneuploidy Syndrome 1
Leukemia, Embryonal rhabdomyosarcoma, Small for gestational age, Nephroblastoma OMIM:257300
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Inability to walk, Depression, Seizure, Exaggerated startle response OMIM:620114
Prader-Willi Syndrome Due To Translocation
Decreased response to growth hormone stimulation test, Hypogonadotropic hypogonadism, Obesity, An... ORPHA:177907
Gm2-Gangliosidosis, Ab Variant
Myoclonic seizure, Seizure, Exaggerated startle response, Dementia, Dystonia OMIM:272750
Prolactinoma
Secondary growth hormone deficiency, Male hypogonadism, Adrenocorticotropin deficient adrenal ins... ORPHA:2965
Neurofibromatosis Type 1
Neoplasm of the skin, Chronic myelogenous leukemia, Meningioma, Rhabdomyosarcoma, Pheochromocytom... ORPHA:636
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Septopreoptic Holoprosencephaly
Precocious puberty, Central diabetes insipidus, Anterior hypopituitarism ORPHA:280195
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:619260
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Ataxia, Broad-based gait, Seizure, Short attention span, Exaggerated startle response, Dystonia ORPHA:438216
Stiff Person Spectrum Disorder
Difficulty walking, Falls, Emotional lability, Exaggerated startle response ORPHA:3198
Dyrk1A-Related Intellectual Disability Syndrome
Failure to thrive, Breast hypoplasia, Cryptorchidism, Multiple joint contractures, Anterior pitui... ORPHA:464306
Lenz-Majewski Hyperostotic Dwarfism
Failure to thrive, Elbow flexion contracture, Cryptorchidism, Knee flexion contracture, Inguinal ... OMIM:151050
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Elevated circulating luteinizing hormone level, Decreased response to growth hormone stimulation ... OMIM:300845
Down Syndrome
Polycythemia, Obesity, Acute megakaryocytic leukemia, Thrombocytopenia, Neutrophilia, Leukemia ORPHA:870
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Late-Onset Isolated Acth Deficiency
Type I diabetes mellitus, Pituitary adenoma, Failure to thrive, Graves disease, Adrenocorticotrop... ORPHA:199299
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Small pituitary gland, Arthrogryposis multiplex congenita, Failure to thrive, Decreased response ... OMIM:619503
Rhyns Syndrome
Hypopituitarism ORPHA:140976
Asparagine Synthetase Deficiency
Failure to thrive, Seizure, EEG with burst suppression, Tremor, Irritability, Hypsarrhythmia, Exa... OMIM:615574
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Acute leukemia, Lymphoma, Microcytic anemia, Lymphopenia, Neoplas... ORPHA:906
Fanconi Anemia, Complementation Group D2
Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia, Small for gesta... OMIM:227646
Isolated Thyroid-Stimulating Hormone Deficiency
Increased pituitary glycoprotein hormone alpha subunit level, Failure to thrive, Increased circul... ORPHA:90674
Legius Syndrome
Acute monocytic leukemia, Vestibular schwannoma, Nephroblastoma, Multiple lipomas, Non-small cell... ORPHA:137605
Simple Cryoglobulinemia
Monoclonal immunoglobulin M proteinemia, Chronic lymphatic leukemia, B-cell lymphoma, Weight loss... ORPHA:91139
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Pituitary adenoma, Hashimoto thyroiditis, Hypothyroidism, Carcinoid tumor, E... OMIM:610755
Developmental And Epileptic Encephalopathy 49
Myoclonic seizure, Myoclonus, Tonic seizure, EEG abnormality, Bilateral tonic-clonic seizure, Exa... OMIM:617281
Triple A Syndrome
Adrenal insufficiency, Anterior hypopituitarism ORPHA:869
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Failure to thrive, Decreased response to growth hormone stimulation test, Panhypopituitarism, Hyp... OMIM:618922
Myasthenic Syndrome, Congenital, 22
Decreased response to growth hormone stimulation test OMIM:616224
African Trypanosomiasis
Abnormality of circulating cortisol level, Weight loss, Abnormal growth hormone level, Abnormalit... ORPHA:3385
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Elevated circulating thyroid-stimulating hormone concentration, Decreased response to growth horm... OMIM:610978
15Q24 Microdeletion Syndrome
Failure to thrive, Decreased response to growth hormone stimulation test, Obesity, Cryptorchidism... ORPHA:94065
Boomerang Dysplasia
Decreased response to growth hormone stimulation test, Cryptorchidism, Omphalocele ORPHA:1263
Congenital Factor Xiii Deficiency
Myeloid leukemia ORPHA:331
Williams-Beuren Region Duplication Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Small for gestational age,... OMIM:609757
14Q22Q23 Microdeletion Syndrome
Cryptorchidism, Adrenal hypoplasia, Anterior pituitary hypoplasia, Diabetes insipidus, Abnormalit... ORPHA:264200
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Seizure, Gait ataxia, Tremor, Dysmetria, Exaggerated startle response, Focal ... OMIM:618056
Sandhoff Disease
Myoclonic seizure, Progressive psychomotor deterioration, Bilateral tonic-clonic seizure, Ataxia,... OMIM:268800
Pseudohypoparathyroidism Type 1B
Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Decrease... ORPHA:94089
Intellectual Disability-Strabismus Syndrome
Joint contracture of the hand, Failure to thrive, Decreased response to growth hormone stimulatio... ORPHA:363528
Idiopathic Hypereosinophilic Syndrome
Failure to thrive, Hepatosplenomegaly, Myelodysplasia, Leukocytosis, Splenomegaly, Thrombocytosis... ORPHA:3260
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Abnormal cortical gyration, Failure to thrive, Seizure, Generalized-onset seizure, Cognitive impa... OMIM:617527
Pallister-Hall-Like Syndrome
Hypothalamic hamartoma, Anterior hypopituitarism OMIM:241800
Hypotonia-Cystinuria Syndrome
Decreased response to growth hormone stimulation test, Failure to thrive, Hypergonadotropic hypog... OMIM:606407
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Microphthalmia, Syndromic 3
Hypogonadotropic hypogonadism, Hypothalamic hamartoma, Cryptorchidism, Anterior pituitary hypoplasia OMIM:206900
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Juvenile Xanthogranuloma
Myeloproliferative disorder ORPHA:158000
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Axillary apocrine gland hypoplasia, Elbow flexion contracture, Breas... OMIM:181450
Plaa-Associated Neurodevelopmental Disorder
Abnormal cortical gyration, Failure to thrive, Seizure, Hypsarrhythmia, Exaggerated startle respo... ORPHA:521426
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Silver-Russell Syndrome 1
Decreased response to growth hormone stimulation test, Testicular seminoma, Small for gestational... OMIM:180860
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, De... ORPHA:206436
Sandhoff Disease, Infantile Form
Myoclonic seizure, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Exaggerated startle response ORPHA:309155
Kallmann Syndrome
Breast hypoplasia, Hypothalamic gonadotropin-releasing hormone deficiency, Obesity, Decreased tes... ORPHA:478
Mosaic Variegated Aneuploidy Syndrome
Rhabdomyosarcoma, Vaginal neoplasm, Stomach cancer, Myelodysplasia, Intestinal polyposis, Nephrob... ORPHA:1052
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, EEG abnormality ORPHA:206448
Giant Axonal Neuropathy
Abnormal pituitary gland morphology ORPHA:643
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Hypopituitarism, Delayed puberty, Failure to thrive OMIM:600462
Mpdu1-Cdg
Decreased response to growth hormone stimulation test, Decreased serum insulin-like growth factor 1 ORPHA:79323
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Hypopituitarism, Hypohidrosis, Failure to thrive ORPHA:98813
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Failure to thrive, Supernumerary nipple, Bilateral cryptorchidism, Slender build, Cryptorchidism,... ORPHA:466791
Stiff-Person Syndrome
Opisthotonus, Depression, Myoclonic spasms, Exaggerated startle response OMIM:184850
Dyskeratosis Congenita, X-Linked
Pancytopenia, Leukopenia, Oropharyngeal squamous cell carcinoma, Hodgkin lymphoma, Squamous cell ... OMIM:305000
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Cryptorchidism OMIM:614732
Hyperekplexia 1
Myoclonus, Nocturnal seizures, Seizure, Exaggerated startle response OMIM:149400
17Q11 Microdeletion Syndrome
Glioma, Rhabdomyosarcoma, Schwannoma, Pheochromocytoma, Multiple mucosal neuromas, Atypical neuro... ORPHA:97685
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Atonic seizure, Seizure, Irritability, Tonic seizure, Focal emotional seizure with laughing, EEG ... OMIM:618367
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypopituitarism, Hypothyroidism OMIM:619013
Holoprosencephaly 9
Anterior pituitary agenesis, Decreased response to growth hormone stimulation test, Panhypopituit... OMIM:610829
Hyperekplexia 3
Myoclonus, Bilateral tonic-clonic seizure, Exaggerated startle response OMIM:614618
Dubowitz Syndrome
Lymphoma, Neoplasm, Thrombocytopenia, Anemia, Abnormality of neutrophils, Acute lymphoblastic leu... ORPHA:235
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Autonomic bl... ORPHA:99027
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Absent brainstem auditory responses, Optic nerve hypoplasia,... ORPHA:101085
Ellis Van Creveld Syndrome
Acute leukemia, Failure to thrive ORPHA:289
Noonan Syndrome 2
Leukemia, Acute lymphoblastic leukemia OMIM:605275
Rubinstein-Taybi Syndrome 1
Accessory spleen, Failure to thrive, Capillary hemangioma, Neoplasm, Truncal obesity, Leukemia, H... OMIM:180849
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Ataxia, Abnormal cortical gyration, Memory impairment, Focal myoclonic seizure, Dysmetria, Unstea... ORPHA:314647
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Splenomegaly, Hepatosplenomegaly, Juvenile myelomonocytic leukemia, Failure to thrive OMIM:613563
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Congenital hypoparathyroidism, Decreased c... OMIM:241410
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Myoclonic seizure, Dysgyria, Tremor, Exaggerated startle response OMIM:620327
Igg4-Related Thyroid Disease
Graves disease, Euthyroid goiter, Goiter, Sialadenitis, Hashimoto thyroiditis, Hypothyroidism, Pa... ORPHA:64744
Dubowitz Syndrome
Acute lymphoblastic leukemia, Aplastic anemia, Lymphoma, Neuroblastoma OMIM:223370
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency
Decreased response to growth hormone stimulation test, Congenital adrenal hypoplasia, Bilateral c... OMIM:618336
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hearing impairment, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, Sen... OMIM:609136
Schinzel-Giedion Syndrome
Failure to thrive in infancy, Ependymoma, Teratoma, Nephroblastoma, Facial hemangioma, Hepatoblas... ORPHA:798
Combined Oxidative Phosphorylation Deficiency 58
Ataxia, Epilepsia partialis continua, Difficulty walking, Gait ataxia, Myoclonus, Bilateral tonic... OMIM:620451
Mogs-Cdg
Optic atrophy, Absent brainstem auditory responses, Abnormality of visual evoked potentials, Sens... ORPHA:79330
Cockayne Syndrome Type 1
Optic atrophy, Hearing impairment, Abnormality of peripheral nerve conduction, Absent brainstem a... ORPHA:90321
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Decreased response to growth hormone stimulation test, Congenital hypothyroidism OMIM:601427
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Leukemia, Lymphoma ORPHA:2526
Chilton-Okur-Chung Neurodevelopmental Syndrome
Aplasia of the right hemidiaphragm, Cryptorchidism, Anterior pituitary hypoplasia OMIM:619841
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Exaggerated startle response OMIM:609541
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Seizure, Polymicrogyria, Type II lissencephaly, Exaggerated startle response, Pachygyria, Agyria,... OMIM:253800
Cerebrotendinous Xanthomatosis
Optic atrophy, Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality... ORPHA:909
Solitary Median Maxillary Central Incisor
Decreased response to growth hormone stimulation test, Anterior hypopituitarism OMIM:147250
Chronic Thromboembolic Pulmonary Hypertension
Obesity, Myeloproliferative disorder, Neoplasm ORPHA:70591
Cryptococcosis
Lymphoid leukemia, Neoplasm ORPHA:1546
Isolated Biliary Atresia
Small for gestational age, Failure to thrive, Hypopituitarism, Atretic gallbladder, Severe failur... ORPHA:30391
Hyperekplexia 2
Myoclonus, Exaggerated startle response OMIM:614619
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Ataxia OMIM:618598
Trichothiodystrophy 5, Nonphotosensitive
Panhypopituitarism, Decreased testicular size OMIM:300953
Trisomy 10P
Low-set ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low voltage EEG, E... ORPHA:171929
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Difficulty walking, Exaggerated startle response ORPHA:320406
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Large for gestational age, Acute lymphoblastic leukemia OMIM:280000
Snakebite Envenomation
Hypopituitarism ORPHA:449285
Dominant Beta-Thalassemia
Failure to thrive in infancy, Hypopituitarism, Adrenal insufficiency, Hypothyroidism, Delayed pub... ORPHA:231226
Down Syndrome
Myeloproliferative disorder, Acute megakaryocytic leukemia OMIM:190685
Chime Syndrome
Acute leukemia ORPHA:3474
Biliary, Renal, Neurologic, And Skeletal Syndrome
Failure to thrive, Inguinal hernia, Neonatal death, Anterior pituitary hypoplasia, Diabetes insip... OMIM:619534
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased serum testosterone conc... ORPHA:3464
Pallister-Hall Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Decreased testicular s... OMIM:146510
Cockayne Syndrome B
Optic atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Sensorin... OMIM:133540
Xq21 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Obesity, Pituitary hypothyroidism, Anterio... ORPHA:1435
Cockayne Syndrome A
Optic atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Sensorin... OMIM:216400
Noonan Syndrome 3
Juvenile myelomonocytic leukemia OMIM:609942
Duplication Of The Pituitary Gland
Abnormal hypothalamus morphology, Abnormal pituitary gland morphology, Decreased body weight ORPHA:314621
Aicardi-Goutières Syndrome
Chronic lymphatic leukemia, Hepatosplenomegaly, Neonatal alloimmune thrombocytopenia, Enchondroma ORPHA:51
Poland Syndrome
Acute leukemia, Neoplasm of the breast, Retinal hamartoma ORPHA:2911
Frontorhiny
Hypopituitarism, Diabetes insipidus, Pericallosal lipoma, Camptodactyly of finger ORPHA:391474
Beta-Thalassemia Major
Failure to thrive in infancy, Hypopituitarism, Adrenal insufficiency, Hypothyroidism, Delayed pub... ORPHA:231214
Alstrom Syndrome
Insulin-resistant diabetes mellitus, Decreased response to growth hormone stimulation test, Hyper... OMIM:203800
Meier-Gorlin Syndrome 6
Failure to thrive, Umbilical hernia, Decreased response to growth hormone stimulation test, Crypt... OMIM:616835
Microform Holoprosencephaly
Panhypopituitarism, Hypothyroidism, Maternal diabetes ORPHA:280200
Noonan Syndrome
Abnormality of the spleen, Juvenile myelomonocytic leukemia ORPHA:648
Somatomammotropinoma
Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulating prolactin concentratio... ORPHA:314769
Borjeson-Forssman-Lehmann Syndrome
Obesity, EEG abnormality, Seizure OMIM:301900
Holoprosencephaly
Failure to thrive in infancy, Panhypopituitarism, Cryptorchidism, Congenital diaphragmatic hernia... ORPHA:2162
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Hypothyroidism ORPHA:90065
Maternal Uniparental Disomy Of Chromosome 2
Decreased response to growth hormone stimulation test, Hypothyroidism, Contractures of the large ... ORPHA:96179
Noonan Syndrome 1
Failure to thrive in infancy, Juvenile myelomonocytic leukemia, Neurofibrosarcoma, Amegakaryocyti... OMIM:163950
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Premature adrenarche, Central hypothyroidism, Increased circulating prolactin concentration, Decr... ORPHA:293987
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Mend Syndrome
Low-set ears, Abnormal auditory evoked potentials ORPHA:401973
Chronic Visceral Acid Sphingomyelinase Deficiency
Hypersplenism, Splenomegaly, Neoplasm of the liver, Thrombocytopenia, Acute promyelocytic leukemi... ORPHA:77293
Gm1 Gangliosidosis Type 1
Seizure, Exaggerated startle response ORPHA:79255
Acromegaly
Pituitary prolactin cell adenoma, Pituitary growth hormone cell adenoma, Hypogonadotropic hypogon... ORPHA:963
Semilobar Holoprosencephaly
Central hypothyroidism, Failure to thrive, Decreased response to growth hormone stimulation test,... ORPHA:220386
Alobar Holoprosencephaly
Central hypothyroidism, Failure to thrive, Decreased response to growth hormone stimulation test,... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central hypothyroidism, Failure to thrive, Decreased response to growth hormone stimulation test,... ORPHA:93926
Lobar Holoprosencephaly
Central hypothyroidism, Failure to thrive, Decreased response to growth hormone stimulation test,... ORPHA:93924
Eec Syndrome
Xerostomia, Decreased response to growth hormone stimulation test, Abnormal dental enamel morphol... ORPHA:1896
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Leukocyte Adhesion Deficiency
Abnormality of neutrophil physiology, Polycythemia, Leukocytosis, Impaired neutrophil chemotaxis,... ORPHA:2968
Sotos Syndrome
Small cell lung carcinoma, Neoplasm, Cholesteatoma, Astrocytoma, Hemangioma, Neuroblastoma, Acute... ORPHA:821
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Acute myelomonocytic leukemia, Failure to thrive, Cavernous hemangioma of the face, Multiple ench... ORPHA:99646
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Broad-based gait, Bilateral tonic-clonic seizure on awakening, Seizure, Inability to walk, Epilep... ORPHA:438213
Holoprosencephaly 7
Panhypopituitarism, Fusion of the left and right thalami, Omphalocele OMIM:610828
Acromelic Frontonasal Dysostosis
Hypopituitarism, Tubulonodular pericallosal lipoma, Cryptorchidism, Midline central nervous syste... OMIM:603671
Charge Syndrome
Umbilical hernia, Cryptorchidism, Hypogonadotropic hypogonadism, Abnormality of the adrenal gland... ORPHA:138
Microphthalmia, Syndromic 6
Failure to thrive, Anterior hypopituitarism, Cryptorchidism, Hypothyroidism, Adrenal hypoplasia, ... OMIM:607932
Hartsfield Syndrome
Gonadotropin deficiency, Diabetes insipidus, Cryptorchidism OMIM:615465
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Attention deficit hyperactivity disorder, Seizure, Exaggerated startle response OMIM:619522
Peters Plus Syndrome
Umbilical hernia, Congenital hypothyroidism, Inguinal hernia, Cryptorchidism, Anterior hypopituit... ORPHA:709
Charge Syndrome
Parathyroid hypoplasia, Aplasia/Hypoplasia of the thymus, Umbilical hernia, Decreased response to... OMIM:214800
Borjeson-Forssman-Lehmann Syndrome
Seizure, Truncal obesity ORPHA:127

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 Phf6

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 Phf6.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Loss of PHF6 leads to aberrant development of human neuron-like cells. Scientific reports (November 2020) Phf6tm1b(EUCOMM)Wtsi PMC7642390
A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction. Nature communications (October 2017) Phf6tm1b(EUCOMM)Wtsi PMC5638796

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Phf6tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Phf6tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Phf6tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice

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