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
preweaning lethality, complete penetrance Phf6tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
abnormal auditory brainstem response Phf6tm1b(EUCOMM)Wtsi HET   Early adult 1.56×10-05

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lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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
EEG abnormality, Obesity, Seizure OMIM:301900
Borjeson-Forssman-Lehmann Syndrome
Cryptorchidism, Truncal obesity, Microcephaly, Camptodactyly of toe, Hypogonadism, Decreased test... 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
Lymphoma, T-cell acute lymphoblastic leukemias, Acute lymphoblastic leukemia OMIM:247640
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Electroencephalographic Peculiarity: 14 And 6 Per Sec. Positive Spike Phenomenon
EEG abnormality OMIM:130200
Electroencephalographic Peculiarity: Fronto-Precentral Beta Wave Groups
EEG abnormality OMIM:130300
Myeloproliferative Syndrome, Transient
Transient myeloproliferative syndrome, Leukocytosis 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
Glioma Susceptibility 9
Astrocytoma, Glioma, Leukemia OMIM:616568
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Lymphoma, Monoclonal immunoglobulin M proteinemia, Leukemia, Impaired lymphocyte transformation w... 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
Leukemia, Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Refractory anemia ... OMIM:133180
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Neutropenia, Acute myeloid leukemia OMIM:607847
Hypothyroidism, Central, With Testicular Enlargement
Hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Reduced TSH response to... OMIM:300888
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Myelodysplasia, Thrombocytopenia OMIM:252270
Isolated Growth Hormone Deficiency, Type Iv
Decreased response to growth hormone stimulation test, Decreased serum insulin-like growth factor... OMIM:618157
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Adenomatous colonic polyposis, Acute myeloid leukemia, Colon cancer OMIM:246470
Mismatch Repair Cancer Syndrome 2
T-cell acute lymphoblastic leukemias, Glioblastoma multiforme, Colon cancer OMIM:619096
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Decreased response to growth hormone stimulation test OMIM:615925
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Leukemia, Chronic Lymphocytic, Susceptibility To, 2
Chronic lymphatic leukemia OMIM:109543
Leukemia, Chronic Lymphocytic
Chronic lymphatic leukemia OMIM:151400
Nut Midline Carcinoma
Ewing sarcoma, Squamous cell carcinoma, Leukemia, Neuroblastoma, Neoplasm, Oropharyngeal squamous... ORPHA:443167
Post-Traumatic Pituitary Deficiency
Central diabetes insipidus, Hypogonadotropic hypogonadism, Panhypopituitarism, Decreased circulat... ORPHA:95619
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Microcephaly, Decreased response to growth hormone stimulation test, Abdominal obesity, Truncal o... OMIM:618160
Li-Fraumeni Syndrome
Central primitive neuroectodermal tumor, Neoplasm of the gastrointestinal tract, Adrenocortical c... ORPHA:524
Pyknoachondrogenesis
Stillbirth OMIM:265880
Pituitary Carcinoma
Pituitary thyrotropic cell adenoma, Pituitary corticotropic cell adenoma, Pituitary carcinoma, Di... ORPHA:300385
Pituitary Hormone Deficiency, Combined, 2
Adrenal insufficiency, Hypothyroidism, Panhypopituitarism, Reduced circulating prolactin concentr... OMIM:262600
Li-Fraumeni Syndrome
Prostate neoplasm, Adrenocortical carcinoma, Colon cancer, Breast carcinoma, Osteosarcoma, Lung a... OMIM:151623
Obesity Due To Prohormone Convertase I Deficiency
Gonadotropin deficiency, Hyperinsulinemia, Obesity, Central adrenal insufficiency, Increased adip... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Gonadotropin deficiency, Hyperinsulinemia, Obesity, Central adrenal insufficiency, Increased adip... ORPHA:71526
Ane Syndrome
Hypogonadotropic hypogonadism, Multiple joint contractures, Abnormal response to ACTH stimulation... ORPHA:157954
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment OMIM:600501
Isolated Growth Hormone Deficiency, Type Ib
Decreased response to growth hormone stimulation test OMIM:612781
Fanconi Anemia, Complementation Group G
Leukemia, Neutropenia, Anemia, Myelodysplasia, Thrombocytopenia OMIM:614082
Arthrogryposis, distal, with hypopituitarism, mental retardation,and facial anomalies
Distal arthrogryposis, Anterior hypopituitarism, Arthrogryposis multiplex congenita, Camptodactyl... OMIM:208080
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Panhypopituitarism, Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:300123
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Gonadotropin deficiency, Anterior pituitary hypoplasia, Adrenocorticotropic hormone deficiency, P... ORPHA:231720
Prolactin Deficiency, Isolated
Reduced circulating prolactin concentration OMIM:264110
Leukemia, Chronic Myeloid
Chronic myelogenous leukemia, Ph-positive acute lymphoblastic leukemia OMIM:608232
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced radioactive iodine uptake, Increased circulating prolactin concentration, Decreased circu... ORPHA:99832
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Facial palsy, Decreased motor nerve conduction velocity OMIM:601382
Pituitary Dwarfism With Large Sella Turcica
Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:262710
Immunodeficiency 21
Neutropenia, Abnormal natural killer cell morphology, Myelodysplasia, Aplastic anemia, Monocytope... OMIM:614172
Functioning Gonadotropic Adenoma
Central diabetes insipidus, Delayed puberty, Panhypopituitarism, Increased serum testosterone lev... ORPHA:91348
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Neutropenia, Anemia, Acute... OMIM:202700
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Monocytosis, Lymphoma, Acute myeloid leukemia, Myelodysplasia, Refractory anemia OMIM:616871
Pituicytoma
Central diabetes insipidus, Hypogonadotropic hypogonadism, Abnormality of circulating adrenocorti... ORPHA:251623
Isolated Growth Hormone Deficiency, Type Ia
Decreased response to growth hormone stimulation test, Impaired growth-hormone response to insuli... OMIM:262400
Non-Functioning Pituitary Adenoma
Diabetes insipidus, Panhypopituitarism, Central adrenal insufficiency, Adrenocorticotropin defici... ORPHA:91349
Pituitary Hormone Deficiency, Combined, 3
Gonadotropin deficiency, Decreased response to growth hormone stimulation test, Anterior hypopitu... OMIM:221750
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Monocytosis, Leukemia, Lymphoma, Autoimmune thrombocytopenia, Splenomegaly, Neutrop... OMIM:614470
Panhypophysitis
Central diabetes insipidus, Gonadotropin deficiency, Abnormal size of pituitary gland, Abnormalit... ORPHA:95513
Congenital Disorder Of Glycosylation, Type Iiq
Secondary microcephaly, Small pituitary gland, Diffuse cerebral atrophy, Hypoplasia of the corpus... OMIM:617395
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Pancytopenia, Acute myeloid leukemia, Neutropenia, Anemia, Increased mean corpuscular volume, Mye... OMIM:619041
Isolated Growth Hormone Deficiency, Type Ii
Decreased response to growth hormone stimulation test OMIM:173100
Hypogonadotropic Hypogonadism 27 Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:619755
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2
Pancytopenia, Myeloid leukemia, Leukemia, Aplastic anemia OMIM:614743
Myelocytic Leukemia-Like Syndrome, Familial, Chronic
Chronic myelogenous leukemia OMIM:600080
Adenohypophysitis
Gonadotropin deficiency, Abnormal size of pituitary gland, Panhypopituitarism, Hashimoto thyroidi... ORPHA:95512
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Myelodysplasia, Acute leukemia, Thr... ORPHA:231401
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Delayed pu... ORPHA:2235
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Pancytopenia, Colon cancer, Anemia, Neoplasm of the lung, Hodgkin lymphoma, Thrombocytopenia, Red... ORPHA:158057
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Obesity, Increased circulating T4 level, Decreased circulating free T3, Abnormal circulating insu... ORPHA:171706
Chromosome 14Q32 Duplication Syndrome, 700-Kb
Myeloid leukemia OMIM:616604
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Leukocytosis, Myelodysplasia, Multiple lineage myelodysplasia ORPHA:98827
Generalized Eruptive Histiocytosis
Hypereosinophilia, Leukemia, Histiocytosis ORPHA:157991
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
X-Linked Acrogigantism
Diabetes insipidus, Increased serum insulin-like growth factor 1, Hypopituitarism, Decreased thyr... ORPHA:300373
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
EEG abnormality, Seizure, Abnormal social behavior ORPHA:436151
Fanconi Anemia, Complementation Group D1
Failure to thrive, T-cell acute lymphoblastic leukemias, Acute myeloid leukemia OMIM:605724
N Syndrome
Leukemia, Neoplasm OMIM:310465
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... ORPHA:453533
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Septooptic Dysplasia
Agenesis of corpus callosum, Diabetes insipidus, Anterior pituitary hypoplasia, Absent septum pel... OMIM:182230
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Small pituitary gland, Decreased testicular size OMIM:614880
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Neuroblastoma, Lymphoma, Acute myeloid leukemia, Abnormal dense granule content, Thrombocytopenia... OMIM:601399
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Anterior pituitary hypoplasia, Decreased serum insulin-like growth factor 1, Hypoplasia of the co... ORPHA:67045
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Neutropenia, Myelodysplasia, Acute lymphoblastic leukemia OMIM:610738
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... ORPHA:226307
Immunodeficiency, Common Variable, 13
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia OMIM:616873
Lymphedema, Primary, With Myelodysplasia
Pancytopenia, Myelodysplasia, Leukemia OMIM:614038
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Gonadotropin deficiency, Obesity, Adrenal hypoplasia, Adrenocorticotropic ... OMIM:609734
Storage Pool Platelet Disease
Decreased mean platelet volume, Myelodysplasia, Acute leukemia OMIM:185050
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Macrocytic anemia, Leukopenia, Thrombocytosis, Acute myeloid leukemia, Anisocytosis, Abnormality ... ORPHA:86841
Bonnemann-Meinecke-Reich Syndrome
Cerebral calcification, Microcephaly, Decreased response to growth hormone stimulation test ORPHA:1261
Acute Promyelocytic Leukemia
Acute promyelocytic leukemia OMIM:612376
Gangliocytoma
Adrenocorticotropic hormone excess, Pituitary null cell adenoma, Pituitary prolactin cell adenoma... ORPHA:251937
Primary Erythromelalgia
Leukemia ORPHA:90026
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Cryptorchidism, Small pituitary gland, Hypogonadotropic hypogonadism OMIM:612702
Sheehan Syndrome
Central diabetes insipidus, Gonadotropin deficiency, Abnormal size of pituitary gland, Panhypopit... ORPHA:91355
Cutaneous Neuroendocrine Carcinoma
Neoplasm of the outer ear, Multiple myeloma, Brain neoplasm, Squamous cell carcinoma of the skin,... ORPHA:79140
Chronic Myeloid Leukemia
Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Splenomegaly, Thrombocytopenia, Abnorm... ORPHA:521
Pituitary Apoplexy
Central diabetes insipidus, Abnormal caudate nucleus morphology, Hypopituitarism, Hypergonadotrop... ORPHA:95613
Cog2-Cdg
Secondary microcephaly, Small pituitary gland, Diffuse cerebral atrophy, Hypoplasia of the corpus... ORPHA:435934
Oliver-Mcfarlane Syndrome
Hypogonadotropic hypogonadism, Small for gestational age, Delayed puberty, Cryptorchidism, Decrea... OMIM:275400
Mismatch Repair Cancer Syndrome 1
Plexiform neurofibroma, Non-Hodgkin lymphoma, Neuroblastoma, Rhabdomyosarcoma, Leukemia, Lymphoma... OMIM:276300
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Thrombocytos... ORPHA:75564
Epilepsy, Familial Adult Myoclonic, 2
Cognitive impairment, Jerk-locked premyoclonus spikes, EEG with irregular generalized spike and w... OMIM:607876
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Failure to thrive, Decreased response to growth hormone stimulation test OMIM:245590
Dohle Bodies And Leukemia
Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies OMIM:223350
Joubert Syndrome 26
Panhypopituitarism, Decreased response to growth hormone stimulation test, Central hypothyroidism OMIM:616784
Amed Syndrome, Digenic
Leukopenia, Acute myeloid leukemia, Anemia, Failure to thrive, Myelodysplasia, Thrombocytopenia OMIM:619151
Non-Acquired Isolated Growth Hormone Deficiency
Anterior hypopituitarism ORPHA:631
Joubert Syndrome 38
Small pituitary gland, Decreased response to growth hormone stimulation test, Ectopic posterior p... OMIM:619476
Leptin Receptor Deficiency
Abnormal hypothalamus morphology, Delayed puberty, Obesity, Hypergonadotropic hypogonadism, Diabe... OMIM:614963
Non-Acquired Panhypopituitarism
Hypogonadotropic hypogonadism, Ectopic anterior pituitary gland, Delayed puberty, Anterior pituit... ORPHA:90695
Premature Ovarian Failure 17
Decreased antimullerian hormone level, Elevated circulating luteinizing hormone level, Decreased ... OMIM:619146
Systemic Mastocytosis With Associated Hematologic Neoplasm
Eosinophilia, Abnormal mast cell morphology, Leukocytosis, Normocytic anemia, Multiple myeloma, L... ORPHA:98849
Panhypopituitarism, X-Linked
Panhypopituitarism OMIM:312000
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of somatosensory evoked potentials, Sensorineural hearing impairment, Abnormal audito... ORPHA:320401
Prader-Willi Syndrome
Small pituitary gland, Premature pubarche, Central hypothyroidism, Abdominal obesity, Cryptorchid... ORPHA:739
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Sim1-Related Prader-Willi-Like Syndrome
Small pituitary gland, Hypogonadotropic hypogonadism, Premature pubarche, Central hypothyroidism,... ORPHA:398079
Pituitary Deficiency Due To Rathke Cleft Cysts
Hypogonadotropic hypogonadism, Diabetes insipidus, Panhypopituitarism, Hypopituitarism, Anterior ... ORPHA:91350
Wt Limb-Blood Syndrome
Pancytopenia, Thrombocytopenia, Leukemia, Hypoplastic anemia OMIM:194350
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:619613
Meningioma
Focal T2 hypointense thalamic lesion, Hypogonadotropic hypogonadism, Decreased circulating follic... ORPHA:2495
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Abnormal size of pituitary gland, Decreased circulating androgen concentration, Decreased circula... ORPHA:293978
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Hypoplastic anemia, Splenomegaly, Abnormality of ne... ORPHA:2585
Bdv Syndrome
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:619326
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyria, Occipital cortical atrophy, C... ORPHA:98754
Mehmo Syndrome
Delayed puberty, Small for gestational age, Obesity, Microcephaly, Male hypogonadism, Hypoplasia ... OMIM:300148
Autosomal Dominant Severe Congenital Neutropenia
Eosinophilia, Monocytosis, Leukemia, Acute myeloid leukemia, Hemangioma, Neutropenia, Myelodyspla... ORPHA:486
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyria, Occipital cortical atrophy, C... ORPHA:98793
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Cerebral calcification, Decreased response to growth hormone stimulation test OMIM:225755
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyria, Occipital cortical atrophy, C... ORPHA:177904
Ataxia-Pancytopenia Syndrome
Pancytopenia, Hypoplastic anemia, Neutropenia, Anemia, Thrombocytopenia, Acute myelomonocytic leu... OMIM:159550
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyria, Occipital cortical atrophy, C... ORPHA:177901
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Abnormal neutrophil count, Myeloproliferative disorder, Splenomegaly, Acute leukemi... ORPHA:3226
Combined Pituitary Hormone Deficiencies, Genetic Forms
Hypogonadotropic hypogonadism, Ectopic anterior pituitary gland, Septo-optic dysplasia, Agenesis ... ORPHA:95494
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Primary gonadal insufficiency, Contracture of the proximal interphalangeal... ORPHA:2232
Magel2-Related Prader-Willi-Like Syndrome
Small pituitary gland, Premature pubarche, Flexion contracture, Central hypothyroidism, Cryptorch... ORPHA:398069
Hypothyroidism, Congenital, Nongoitrous, 8
Inappropriately normal thyroid-stimulating hormone level, Decreased circulating free T4 level, Ce... OMIM:301033
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Central diabetes insipidus, Hypopituitarism, Increased circulating prolactin concentration, Adren... ORPHA:91354
Pituitary Dermoid And Epidermoid Cysts
Panhypopituitarism, Anterior hypopituitarism, Increased circulating prolactin concentration, Hype... ORPHA:91351
Prader-Willi-Like Syndrome
Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyria, Occipital cortical atrophy, C... ORPHA:398073
Aggressive Systemic Mastocytosis
Pancytopenia, Abnormal mast cell morphology, Hepatosplenomegaly, Leukemia, Leukocytosis, Increase... ORPHA:98850
Thymoma
Neoplasm of the gastrointestinal tract, Non-Hodgkin lymphoma, Neoplasia of the pleura, Leukemia, ... ORPHA:99867
Craniopharyngioma
Central diabetes insipidus, Abnormal hypothalamus morphology, Cerebral calcification, Hypogonadot... ORPHA:54595
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... OMIM:308750
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, EEG abnormality, Sensorineural hearing impairment OMIM:617519
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Leukemia, Nephroblastoma, Meningioma OMIM:602501
Hypergonadotropic Hypogonadism-Cataract Syndrome
Delayed puberty, Secondary growth hormone deficiency, Increased circulating gonadotropin level, H... ORPHA:2410
Pituitary Adenoma 1, Multiple Types
Increased serum insulin-like growth factor 1, Pituitary prolactin cell adenoma, Prolactinoma, Inc... OMIM:102200
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity OMIM:601455
Pseudohypoparathyroidism Type 1C
Cerebral calcification, Pseudohypoparathyroidism, Pituitary resistance to thyroid hormone, Enamel... ORPHA:79444
Myelofibrosis
Myeloproliferative disorder, Splenomegaly OMIM:254450
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Microcephaly, Failure to thrive, Decreased response to growth hormone stimulation test, Agenesis ... OMIM:615286
Combined Oxidative Phosphorylation Deficiency 25
Cerebral atrophy, Decreased response to growth hormone stimulation test OMIM:616430
Female Restricted Epilepsy With Intellectual Disability
Atypical absence seizure, Atonic seizure, Complex febrile seizure, Abnormal social behavior, Anxi... ORPHA:101039
Septo-Optic Dysplasia Spectrum
Septo-optic dysplasia, Hypohidrosis, Diabetes insipidus, Abnormality of the hypothalamus-pituitar... ORPHA:3157
Fg Syndrome Type 1
Small pituitary gland, Progressive flexion contractures, Slender build, Cryptorchidism, Aplasia/H... ORPHA:93932
Tsh-Secreting Pituitary Adenoma
Euthyroid hyperthyroxinemia, Central adrenal insufficiency, Adrenocorticotropin deficient adrenal... ORPHA:91347
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Decreased circulating follicle stimulating hormon... OMIM:229070
Culler-Jones Syndrome
Diabetes insipidus, Anterior pituitary hypoplasia, Cryptorchidism, Hypopituitarism, Ectopic poste... OMIM:615849
Immunodeficiency 36
Chronic lymphatic leukemia, Splenomegaly, Lymphopenia, B-cell lymphoma OMIM:616005
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Leukocytosis, Anemia, Acute monocytic leukemia, Lymphocytosis, Weight loss ORPHA:514
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy OMIM:125250
Temple Syndrome
Small for gestational age, Cryptorchidism, Obesity, Precocious puberty, Type II diabetes mellitus... ORPHA:254516
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... OMIM:308700
Premature Ovarian Failure 16
Elevated circulating follicle stimulating hormone level, Premature ovarian insufficiency, Decreas... OMIM:618723
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Pancytopenia, Anemia, Myelodysplasia, Myeloid leukemia, Aplastic anemia OMIM:614742
Adrenocortical Carcinoma
Increased circulating androstenedione concentration, Weight loss, Adrenocortical carcinoma, Incre... ORPHA:1501
X-Linked Intellectual Disability, Van Esch Type
Cryptorchidism, Decreased serum testosterone concentration, Microcephaly, Absence of secondary se... ORPHA:163976
Pseudohypoparathyroidism Type 1A
Cerebral calcification, Pseudohypoparathyroidism, Pituitary resistance to thyroid hormone, Enamel... ORPHA:79443
Myasthenic Syndrome, Congenital, 22
Decreased response to growth hormone stimulation test OMIM:616224
Dopa-Responsive Dystonia
Dystonia, Generalized dystonia, Oculogyric crisis, Abnormal social behavior, Anxiety, Leg dystoni... ORPHA:255
Chromosome Xq27.3-Q28 Duplication Syndrome
Small for gestational age, Cryptorchidism, Decreased serum testosterone concentration, Abdominal ... OMIM:300869
Charcot-Marie-Tooth Disease, Type 4C
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Prolonged brainstem... OMIM:601596
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum estradiol, Hypergon... ORPHA:66628
Acute Panmyelosis With Myelofibrosis
Pancytopenia, Acute myeloid leukemia, Splenomegaly, Lymphocytosis, Acute myelomonocytic leukemia ORPHA:86843
Hyperthyroidism, Familial Gestational
Hyperthyroidism, Decreased thyroid-stimulating hormone level, Increased circulating T4 level OMIM:603373
Essential Thrombocythemia
Splenomegaly, Myelodysplasia, Acute leukemia, Abnormal platelet morphology ORPHA:3318
Chilblain Lupus
Chronic myelomonocytic leukemia ORPHA:90280
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum estradiol, Obesity,... ORPHA:179494
Galloway-Mowat Syndrome 6
Microcephaly, Hypothyroidism, Decreased response to growth hormone stimulation test, Decreased bo... OMIM:618347
Familial Thrombocytosis
Thrombocytosis, Acute myeloid leukemia, Splenomegaly, Myelodysplasia, Chronic myelogenous leukemi... ORPHA:71493
Septopreoptic Holoprosencephaly
Central diabetes insipidus, Abnormal corpus callosum morphology, Perisylvian polymicrogyria, Ante... ORPHA:280195
Ovarian Dysgenesis 9
Decreased antimullerian hormone level, Elevated circulating luteinizing hormone level, Decreased ... OMIM:619665
Retinoblastoma
Ewing sarcoma, Leukemia, Lymphoma, Pinealoma, Osteosarcoma, Retinoblastoma OMIM:180200
Premature Ovarian Failure 1
Premature ovarian insufficiency, Increased circulating gonadotropin level OMIM:311360
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Testicular microlithiasis, Decreased circulating luteinizing hormo... OMIM:228300
Turcot Syndrome With Polyposis
Hepatoblastoma, Colon cancer, Lymphoma, Pilomatrixoma, Adenomatous colonic polyposis, Glioma, Pap... ORPHA:99818
Endocardial Fibroelastosis
Cryptorchidism, Anterior hypopituitarism ORPHA:2022
Acromelic Frontonasal Dysplasia
Agenesis of corpus callosum, Anterior pituitary hypoplasia, Midline central nervous system lipoma... ORPHA:1827
Refractory Anemia With Excess Blasts
Leukocytosis, Acute myeloid leukemia, Abnormal mean corpuscular volume, Multiple lineage myelodys... ORPHA:86839
Syndromic Recessive X-Linked Ichthyosis
Acute leukemia, Testicular seminoma ORPHA:281090
Premature Ovarian Failure 9
Premature ovarian insufficiency, Increased circulating gonadotropin level OMIM:615724
Hypothyroidism, Congenital, Nongoitrous, 9
Inappropriately normal thyroid-stimulating hormone level, Decreased circulating free T4 level, Th... OMIM:301035
Hyperekplexia-Epilepsy Syndrome
Focal impaired awareness seizure, Generalized tonic seizure, EEG with temporal focal spikes, Exag... ORPHA:163985
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Dysplastic corpus callosum, Camptodactyly, Anterior hypopituitarism, Joint contracture of the hand OMIM:601016
Juberg-Hayward Syndrome
Microcephaly, Decreased response to growth hormone stimulation test OMIM:216100
Ovarian Dysgenesis 8
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:618187
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Lipodystrophy, Cerebral atrophy, Hypothyroidism, Panhypopituitarism, Hippocampal atrophy, Microce... OMIM:618922
4H Leukodystrophy
Hypogonadotropic hypogonadism, Abnormality of thyroid physiology, Delayed puberty, Hyperintensity... ORPHA:289494
Precocious Puberty, Central, 1
Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti... OMIM:176400
Boomerang Dysplasia
Cryptorchidism, Decreased response to growth hormone stimulation test, Omphalocele ORPHA:1263
Chromosome Xq26.3 Duplication Syndrome
Increased serum insulin-like growth factor 1, Hypopituitarism, Elevated circulating growth hormon... OMIM:300942
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Splenomegaly, Lymphoproliferative disorder, Chronic lymphatic leukemia ORPHA:90033
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Hypogonadotropic hypogonadism, Female hypogonadism, Decreased serum test... ORPHA:52901
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:618086
Hydranencephaly
Atrophic pituitary gland, Dysgenesis of the thalamus, Hypoplastic hippocampus, Primary microcepha... ORPHA:2177
Premature Ovarian Failure 8
Elevated circulating luteinizing hormone level, Decreased serum estradiol, Ovarian neoplasm, Elev... OMIM:615723
Deeah Syndrome
Exocrine pancreatic insufficiency, Decreased body weight, Hypohidrosis, Anterior pituitary hypopl... OMIM:619004
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Multiple pancreatic beta-cell adenomas, Abnormal response to glucagon ... ORPHA:79644
Acth Deficiency, Isolated
Decreased circulating cortisol level, Adrenal hypoplasia, Adrenocorticotropic hormone deficiency OMIM:201400
Pyoderma Gangrenosum
Myelodysplasia, Myeloid leukemia ORPHA:48104
Bloom Syndrome
Lymphoma, Squamous cell carcinoma, Leukemia, Small for gestational age OMIM:210900
Nasu-Hakola Disease
Acute leukemia ORPHA:2770
Pituitary Adenoma 2, Growth Hormone-Secreting
Elevated circulating growth hormone concentration, Pituitary adenoma OMIM:300943
Gm2 Gangliosidosis, Ab Variant
Cognitive impairment, Dystonia, Anxiety, Exaggerated startle response, Seizure, Abnormal fear/anx... ORPHA:309246
46,Xy Sex Reversal 11
Decreased antimullerian hormone level, Elevated circulating luteinizing hormone level, Decreased ... OMIM:273250
Tay-Sachs Disease
Psychomotor deterioration, Dementia, Apathy, Exaggerated startle response, Seizure OMIM:272800
Shwachman-Diamond Syndrome 1
Pancytopenia, Small for gestational age, Acute myeloid leukemia, Neutropenia, Anemia, Failure to ... OMIM:260400
Hypotonia-Cystinuria Syndrome
Failure to thrive, Decreased response to growth hormone stimulation test, Hypergonadotropic hypog... OMIM:606407
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Cryptorchidism, Decreased response to growth hormone stimulation test, Adrenal hypoplasia OMIM:614732
Pallister-Hall Syndrome
Hypothalamic hamartoma, Abnormal corpus callosum morphology, Primary adrenal insufficiency, Dista... ORPHA:672
Premature Ovarian Failure 14
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:618014
Fanconi Anemia, Complementation Group E
Pancytopenia, Leukemia, Small for gestational age, Neutropenia, Anemia, Reticulocytopenia, Thromb... OMIM:600901
Rhyns Syndrome
Decreased response to growth hormone stimulation test, Pituitary hypothyroidism, Anterior hypopit... OMIM:602152
Isolated Exencephaly
Maternal diabetes, Posterior pituitary agenesis, Agenesis of corpus callosum, Anterior pituitary ... ORPHA:563612
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Small pituitary gland, Dilation of lateral ventricles, Flexion contracture, Hypoplasia of the cor... OMIM:619479
Premature Ovarian Failure 18
Decreased antimullerian hormone level, Elevated circulating luteinizing hormone level, Elevated c... OMIM:619203
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Microcephaly, Decreased response to growth hormone stimulation test, Overweight, Decreased testic... ORPHA:457240
Fanconi Anemia, Complementation Group A
Pancytopenia, Leukemia, Small for gestational age, Neutropenia, Anemia, Reticulocytopenia, Thromb... OMIM:227650
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Temporal optic disc pallor... ORPHA:1215
Hypertriglyceridemia 1
Hypopituitarism OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypopituitarism OMIM:144600
15Q24 Microdeletion Syndrome
Small for gestational age, Hernia, Cryptorchidism, Obesity, Congenital diaphragmatic hernia, Micr... ORPHA:94065
X-Linked Hypohidrotic Ectodermal Dysplasia
Anterior hypopituitarism, Hypohidrosis, Type I diabetes mellitus ORPHA:181
Mastocytosis
Chronic leukemia, Mastocytosis, Sarcoma, Splenomegaly, Acute leukemia ORPHA:98292
Asparagine Synthetase Deficiency
Simplified gyral pattern, Failure to thrive, Exaggerated startle response, Seizure, Hypsarrhythmia OMIM:615574
Lig4 Syndrome
Pancytopenia, Leukocytosis, Lymphoma, Acute leukemia ORPHA:99812
Zollinger-Ellison Syndrome
Multiple lipomas, Pituitary corticotropic cell adenoma, Hyperparathyroidism, Thyroid adenoma, Adr... ORPHA:913
Noonan Syndrome 12
Decreased response to growth hormone stimulation test OMIM:618624
Shwachman-Diamond Syndrome
Pancytopenia, Leukopenia, Normocytic anemia, Leukemia, Impaired neutrophil chemotaxis, Transient ... ORPHA:811
Polycythemia Vera
Weight loss, Splenomegaly, Myelodysplasia, Acute leukemia ORPHA:729
Kearns-Sayre Syndrome
Anterior hypopituitarism ORPHA:480
Multiple Endocrine Neoplasia Type 4
Pituitary corticotropic cell adenoma, Pulmonary carcinoid tumor, Thymoma, Neuroendocrine neoplasm... ORPHA:276152
Ataxia-Telangiectasia
T lymphocytopenia, Non-Hodgkin lymphoma, Leukemia, Lymphoma, Decreased proportion of CD4-positive... OMIM:208900
Blue Diaper Syndrome
Decreased circulating T4 level, Elevated circulating thyroid-stimulating hormone concentration, I... ORPHA:94086
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Delayed pu... ORPHA:280679
Metachromatic Leukodystrophy, Juvenile Form
Dystonia, Intention tremor, Abnormal social behavior, Decreased nerve conduction velocity, Emotio... ORPHA:309263
Bloom Syndrome
Esophageal neoplasm, Small for gestational age, Lymphoma, Neoplasm of the breast, Acute myeloid l... ORPHA:125
Mohr-Tranebjaerg Syndrome
Abnormality of somatosensory evoked potentials, Prelingual sensorineural hearing impairment, Sens... ORPHA:52368
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Primary adrenal insufficiency, Elevated circulating luteinizing hormone level, Ovarian cyst, Male... ORPHA:90793
Dyrk1A-Related Intellectual Disability Syndrome
Multiple joint contractures, Anterior pituitary hypoplasia, Small for gestational age, Cryptorchi... ORPHA:464306
Multiple Endocrine Neoplasia, Type I
Subcutaneous lipoma, Adenoma sebaceum, Thyroid adenoma, Pituitary prolactin cell adenoma, Parathy... OMIM:131100
Prolactinoma
Hypogonadotropic hypogonadism, Female hypogonadism, Decreased circulating ACTH level, Central adr... ORPHA:2965
Holoprosencephaly 9
Abnormal cortical gyration, Anterior pituitary hypoplasia, Panhypopituitarism, Cryptorchidism, Mi... OMIM:610829
Prader-Willi Syndrome Due To Translocation
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Obesity, Microcephaly, Cerebral cor... ORPHA:177907
Early-Onset Autosomal Dominant Alzheimer Disease
Semantic dementia, Memory impairment, Abnormal social behavior, Dementia, Ataxia, Seizure, Myoclonus ORPHA:1020
Cohen Syndrome
Small for gestational age, Delayed puberty, Microcephaly, Thick corpus callosum, Childhood-onset ... OMIM:216550
Porphyria Due To Ala Dehydratase Deficiency
Abnormal erythrocyte enzyme level, Myeloproliferative disorder ORPHA:100924
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Conductive hearing impairment, Sensorineural hearing impairment OMIM:201050
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency
Decreased body weight, Microcephaly, Bilateral cryptorchidism, Congenital adrenal hypoplasia, Dec... OMIM:618336
Fanconi Anemia, Complementation Group C
Pancytopenia, Leukemia, Small for gestational age, Neutropenia, Anemia, Reticulocytopenia, Thromb... OMIM:227645
Diffuse Cutaneous Mastocytosis
Myeloproliferative disorder, Lymphocytosis, Abnormality of the spleen ORPHA:79456
Sweet Syndrome
Sterile abscess, Leukocytosis, Neutrophilia, Acute myeloid leukemia, Breast carcinoma, Neoplasm, ... ORPHA:3243
Intellectual Disability-Strabismus Syndrome
Achilles tendon contracture, Hypothyroidism, Hypohidrosis, Agenesis of corpus callosum, Cryptorch... ORPHA:363528
Premature Ovarian Failure 10
Hypothyroidism, Elevated circulating luteinizing hormone level, Elevated circulating follicle sti... OMIM:612885
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test ORPHA:436174
Short Stature-Wormian Bones-Dextrocardia Syndrome
Cryptorchidism, Camptodactyly of finger, Anterior hypopituitarism ORPHA:2863
Retinoblastoma
Ewing sarcoma, Leukemia, Rhabdomyosarcoma, Melanoma, Lymphoma, Osteosarcoma, Leiomyosarcoma, Pine... ORPHA:790
Nelson Syndrome
Pituitary corticotropic cell adenoma, Adrenocorticotropic hormone excess, Pituitary carcinoma, Di... ORPHA:199244
Webb-Dattani Syndrome
Pituitary hypothyroidism, Diabetes insipidus, Cryptorchidism, Microcephaly, Hypoplasia of the cor... OMIM:615926
Pseudohypoparathyroidism Type 1B
Pseudohypoparathyroidism, Pituitary resistance to thyroid hormone, Enamel hypoplasia, Elevated ci... ORPHA:94089
Metachromatic Leukodystrophy, Adult Form
Dystonia, Memory impairment, Intention tremor, Abnormal social behavior, Dementia, Decreased nerv... ORPHA:309271
Tatton-Brown-Rahman Syndrome
Neuroendocrine neoplasm, Obesity, Myeloid leukemia ORPHA:404443
Rothmund-Thomson Syndrome Type 1
Squamous cell carcinoma, Leukemia, Melanoma, Small for gestational age, Osteosarcoma, Neutropenia... ORPHA:221008
Silver-Russell Syndrome 1
Decreased response to growth hormone stimulation test, Small for gestational age, Testicular semi... OMIM:180860
Fanconi Anemia, Complementation Group I
Hypothyroidism, Colpocephaly, Decreased body weight, Agenesis of corpus callosum, Microcephaly, A... OMIM:609053
Rothmund-Thomson Syndrome Type 2
Squamous cell carcinoma, Leukemia, Melanoma, Small for gestational age, Lymphoma, Osteosarcoma, N... ORPHA:221016
Rothmund-Thomson Syndrome
Squamous cell carcinoma, Leukemia, Melanoma, Small for gestational age, Neutropenia, Anemia, Basa... ORPHA:2909
Down Syndrome
Myeloproliferative disorder, Acute megakaryocytic leukemia OMIM:190685
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Gm2-Gangliosidosis, Ab Variant
Dystonia, Dementia, Apathy, Exaggerated startle response, Seizure OMIM:272750
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Decreased response to growth hormone stimulation test, Congenital hypothyroidism OMIM:601427
Nijmegen Breakage Syndrome
Rhabdomyosarcoma, Lymphoma, Autoimmune hemolytic anemia, Neoplasm, B-cell lymphoma, Hemolytic ane... ORPHA:647
Noonan Syndrome 6
Juvenile myelomonocytic leukemia OMIM:613224
Waldenström Macroglobulinemia
Monoclonal immunoglobulin M proteinemia, Normocytic anemia, Leukemia, Lymphoma, Splenomegaly, Abn... ORPHA:33226
Rhyns Syndrome
Hypopituitarism ORPHA:140976
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:619761
African Trypanosomiasis
Abnormality of circulating cortisol level, Abnormality of renin-angiotensin system, Abnormal prol... ORPHA:3385
Stiff Person Spectrum Disorder
Anxiety, Emotional lability, Difficulty walking, Exaggerated startle response, Falls, Agoraphobia ORPHA:3198
Late-Onset Isolated Acth Deficiency
Weight loss, Hashimoto thyroiditis, Graves disease, Decreased circulating cortisol level, Adrenoc... ORPHA:199299
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
Failure to thrive, Decreased response to growth hormone stimulation test OMIM:264475
Fanconi Anemia, Complementation Group W
Microcephaly, Decreased response to growth hormone stimulation test, Abnormal periventricular whi... OMIM:617784
Mpdu1-Cdg
Decreased response to growth hormone stimulation test, Decreased serum insulin-like growth factor 1 ORPHA:79323
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Decreased response to growth hormone stimulation test, Hypergonadotropic hypogonadism, Decreased ... OMIM:300845
Srd5A3-Cdg
Hypothyroidism, Decreased response to growth hormone stimulation test ORPHA:324737
Isolated Thyroid-Stimulating Hormone Deficiency
Increased pituitary glycoprotein hormone alpha subunit level, Reduced radioactive iodine uptake, ... ORPHA:90674
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Small pituitary gland, Flexion contracture, Enamel hypoplasia, Cryptorchidism, Reduced subcutaneo... OMIM:619503
Triple A Syndrome
Microcephaly, Adrenal insufficiency, Anterior hypopituitarism ORPHA:869
Developmental And Epileptic Encephalopathy 68
Failure to thrive, Myoclonus, Status epilepticus, Exaggerated startle response OMIM:618201
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Cryptorchidism, Gonadotropin deficiency, Hypogonadotropic hypogonadism, Decreased testicular size OMIM:614837
Multiple Endocrine Neoplasia, Type Iv
Hypothyroidism, Hashimoto thyroiditis, Parathyroid adenoma, Elevated circulating growth hormone c... OMIM:610755
Thyroid Hormone Resistance, Selective Pituitary
Hyperthyroidism, Impaired sensitivity to thyroid hormone, Elevated circulating thyroid-stimulatin... OMIM:145650
Microphthalmia, Syndromic 3
Hypothalamic hamartoma, Hypogonadotropic hypogonadism, Agenesis of corpus callosum, Anterior pitu... OMIM:206900
Blackfan-Diamond Anemia
Leukopenia, Small for gestational age, Thrombocytosis, Erythroid hypoplasia, Osteosarcoma, Adenoc... ORPHA:124
Bone Marrow Failure Syndrome 3
Pancytopenia, Failure to thrive, Acute myeloid leukemia, Aplastic anemia OMIM:617052
Acrootoocular Syndrome
Small for gestational age, Microcephaly, Failure to thrive, Grayish enamel, Decreased response to... ORPHA:2980
Childhood Absence Epilepsy
EEG with spike-wave complexes (2.5-3.5 Hz), Abnormal social behavior, Myoclonic absence seizure, ... ORPHA:64280
Pallister-Hall-Like Syndrome
Hypothalamic hamartoma, Anterior hypopituitarism OMIM:241800
14Q22Q23 Microdeletion Syndrome
Abnormality of the hypothalamus-pituitary axis, Diabetes insipidus, Agenesis of corpus callosum, ... ORPHA:264200
Simple Cryoglobulinemia
Monoclonal immunoglobulin M proteinemia, Multiple myeloma, B-cell lymphoma, Chronic lymphatic leu... ORPHA:91139
Alstrom Syndrome
Hypothyroidism, Diabetes insipidus, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Decrea... OMIM:203800
Aromatic L-Amino Acid Decarboxylase Deficiency
Oculogyric crisis, Blepharospasm, Athetosis, Limb dystonia, Lethargy, Emotional lability, Irritab... OMIM:608643
Fanconi Anemia, Complementation Group D2
Pancytopenia, Leukemia, Small for gestational age, Neutropenia, Anemia, Reticulocytopenia, Thromb... OMIM:227646
Solitary Median Maxillary Central Incisor
Microcephaly, Decreased response to growth hormone stimulation test, Anterior hypopituitarism OMIM:147250
Williams-Beuren Region Duplication Syndrome
Cryptorchidism, Decreased response to growth hormone stimulation test, Hypoplasia of the corpus c... OMIM:609757
Neurofibromatosis Type 1
Multiple lipomas, Plexiform neurofibroma, Neoplasm of the gastrointestinal tract, Leukemia, Sarco... ORPHA:636
16P12.1P12.3 Triplication Syndrome
Failure to thrive, Decreased response to growth hormone stimulation test, Bilateral cryptorchidism ORPHA:485405
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Hypothyroidism, Delayed puberty, Bilateral camptodactyly, Microcephaly, Hypoplasia of the corpus ... OMIM:619234
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay
Decreased body weight, Acute myeloid leukemia, Neutropenia, Anemia, Myelodysplasia OMIM:601347
Helsmoortel-Van Der Aa Syndrome
Obesity, Decreased response to growth hormone stimulation test OMIM:615873
Legius Syndrome
Multiple lipomas, Ovarian neoplasm, Desmoid tumors, Non-small cell lung carcinoma, Acute monocyti... ORPHA:137605
Acromelic Frontonasal Dysostosis
Agenesis of corpus callosum, Cryptorchidism, Hypopituitarism, Lipoma, Hypoplasia of the corpus ca... OMIM:603671
Immunodeficiency, Common Variable, 10
Decreased response to growth hormone stimulation test, Central adrenal insufficiency, Abnormal re... OMIM:615577
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Gonadotropin deficiency, Congenital hypothyroidism, Compensated hypothyroidism, Elevated circulat... OMIM:610978
Mosaic Variegated Aneuploidy Syndrome 1
Small for gestational age, Leukemia, Nephroblastoma, Rhabdomyosarcoma OMIM:257300
Acrodysostosis 1 With Or Without Hormone Resistance
Small for gestational age, Cryptorchidism, Congenital hypothyroidism, Elevated circulating thyroi... OMIM:101800
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Prolonged brainstem auditory evoked potentials, D... ORPHA:206443
Wiskott-Aldrich Syndrome
Microcytic anemia, Chronic leukemia, Lymphoma, Abnormal eosinophil morphology, Neoplasm, Neutrope... ORPHA:906
Cardiofaciocutaneous Syndrome 4
Decreased response to growth hormone stimulation test, Hyperhidrosis, Thin corpus callosum OMIM:615280
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Cryptorchidism, Microcephaly, Hypoplasia of the corpus callosum, Decreased response to growth hor... OMIM:241410
Ritscher-Schinzel Syndrome 1
Decreased response to growth hormone stimulation test, Adrenal hypoplasia OMIM:220210
Tay-Sachs Disease
Dysmetria, Dystonia, Memory impairment, Anxiety, Inability to walk, Typical absence seizure, Gait... ORPHA:845
Ulnar-Mammary Syndrome
Anterior pituitary hypoplasia, Obesity, Inguinal hernia, Hypoplastic nipples, Axillary apocrine g... OMIM:181450
Down Syndrome
Acute megakaryocytic leukemia, Obesity ORPHA:870
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic disc pallor OMIM:619260
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Leukemia OMIM:208910
Congenital Factor Xiii Deficiency
Myeloid leukemia ORPHA:331
Hypothyroidism, Congenital, Nongoitrous, 1
Hypothyroidism, Thyroid hypoplasia, Elevated circulating thyroid-stimulating hormone concentratio... OMIM:275200
Rajab Interstitial Lung Disease With Brain Calcifications 2
Microcephaly, Hypothyroidism, Periventricular cysts, Hypopituitarism OMIM:619013
Juvenile Xanthogranuloma
Myeloproliferative disorder ORPHA:158000
Gomez-Lopez-Hernandez Syndrome
Decreased response to growth hormone stimulation test OMIM:601853
Meier-Gorlin Syndrome 6
Delayed puberty, Small for gestational age, Cryptorchidism, Microcephaly, Simplified gyral patter... OMIM:616835
Idiopathic Hypereosinophilic Syndrome
Eosinophilia, Hepatosplenomegaly, Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Neut... ORPHA:3260
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... ORPHA:478
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Flexion contracture, Decreased response to growth hormone stimulation test, Central adrenal insuf... OMIM:616007
Prader-Willi Syndrome
Adrenal insufficiency, Hypogonadotropic hypogonadism, Hyperinsulinemia, Failure to thrive in infa... OMIM:176270
Developmental And Epileptic Encephalopathy 8
Seizure, Exaggerated startle response OMIM:300607
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Dysplastic corpus callosum, Anterior pituitary hypoplasia, Slender build, Cryptorchidism, Supernu... ORPHA:466791
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Absent brainstem auditory responses ORPHA:3240
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Sandhoff Disease
Ataxia, Progressive psychomotor deterioration, Exaggerated startle response, Bilateral tonic-clon... OMIM:268800
Adult Krabbe Disease
EEG abnormality, Prolonged brainstem auditory evoked potentials ORPHA:206448
Pycnodysostosis
Cerebral dysmyelination, Enamel hypoplasia, Overweight, Decreased serum insulin-like growth facto... ORPHA:763
Chromosome 18Q Deletion Syndrome
Failure to thrive in infancy, Cryptorchidism, Microcephaly, Inguinal hernia, Umbilical hernia, De... OMIM:601808
Maternal Uniparental Disomy Of Chromosome 2
Hypothyroidism, Contractures of the large joints, Bilateral cryptorchidism, Premature ovarian ins... ORPHA:96179
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Abnormal cortical gyration, Cognitive impairment, Generalized-onset seizure, Failure to thrive, E... OMIM:617527
Mosaic Variegated Aneuploidy Syndrome
Rhabdomyosarcoma, Colon cancer, Neoplasm, Myelodysplasia, Nephroblastoma, Acute lymphoblastic leu... ORPHA:1052
17Q11 Microdeletion Syndrome
Gastrointestinal stroma tumor, Cerebellar glioma, Plexiform neurofibroma, Schwannoma, Leukemia, R... ORPHA:97685
Fanconi Anemia, Complementation Group F
Cryptorchidism, Microcephaly, Failure to thrive, Decreased response to growth hormone stimulation... OMIM:603467
Noonan Syndrome 2
Leukemia OMIM:605275
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Abnormal cortical gyration, Dysmetria, Memory impairment, Intention tremor, Abnormal social behav... ORPHA:314647
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Anxiety, Ataxia, Exaggerated startle response, Seizure, Broad-based gait ORPHA:438216
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormality of somatosensory evoked potentials, EEG with generalized slow activity, Orthostatic h... ORPHA:99027
Congenital Hypothyroidism
Hypothyroidism, Abnormality of the thyroid gland, Thyroid dysgenesis, Anterior hypopituitarism, G... ORPHA:442
Mosaic Variegated Aneuploidy Syndrome 2
Microcephaly, Hypothyroidism, Decreased response to growth hormone stimulation test, Small for ge... OMIM:614114
Acrodysostosis With Multiple Hormone Resistance
Pseudohypoparathyroidism, Cryptorchidism, Obesity, Congenital hypothyroidism, Diabetes mellitus, ... ORPHA:280651
Giant Axonal Neuropathy
Abnormality of the pituitary gland ORPHA:643
Charcot-Marie-Tooth Disease Type 1F
Sensorineural hearing impairment, Optic nerve hypoplasia, Absent brainstem auditory responses, De... ORPHA:101085
Plaa-Associated Neurodevelopmental Disorder
Abnormal cortical gyration, Dystonia, Failure to thrive, Exaggerated startle response, Seizure, H... ORPHA:521426
Dubowitz Syndrome
Lymphoma, Neuroblastoma, Aplastic anemia, Acute lymphoblastic leukemia OMIM:223370
Ellis Van Creveld Syndrome
Failure to thrive, Acute leukemia ORPHA:289
Woodhouse-Sakati Syndrome
Hypothyroidism, Hyperinsulinemia, Delayed puberty, Decreased serum testosterone concentration, De... ORPHA:3464
Hyperekplexia 1
Exaggerated startle response, Seizure, Myoclonus, Nocturnal seizures OMIM:149400
Dubowitz Syndrome
Lymphoma, Neoplasm, Abnormality of neutrophils, Anemia, Acute lymphoblastic leukemia, Thrombocyto... ORPHA:235
Xq21 Microdeletion Syndrome
Obesity, Decreased response to growth hormone stimulation test, Anterior hypopituitarism, Pituita... ORPHA:1435
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Microcephaly, Decreased response to growth hormone stimulation test, Agenesis of corpus callosum,... OMIM:617260
Stiff-Person Syndrome
Opisthotonus, Myoclonic spasms, Anxiety, Exaggerated startle response, Agoraphobia OMIM:184850
Coffin-Siris Syndrome 9
Microcephaly, Decreased response to growth hormone stimulation test, Delayed puberty OMIM:615866
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome
Large for gestational age, Acute lymphoblastic leukemia OMIM:280000
Infantile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph... ORPHA:206436
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Small for gestational age, Cryptorchidism, Premature adrenarche, Failure to thrive, Precocious pu... ORPHA:96182
Pallister-Hall Syndrome
Hypothalamic hamartoma, Cryptorchidism, Panhypopituitarism, Decreased circulating cortisol level,... OMIM:146510
Dyskeratosis Congenita, X-Linked
Pancytopenia, Leukopenia, Squamous cell carcinoma, Carcinoma, Acute myeloid leukemia, Anemia, Hod... OMIM:305000
Igg4-Related Thyroid Disease
Hypothyroidism, Thyrotoxicosis with diffuse goiter, Euthyroid goiter, Hashimoto thyroiditis, Grav... ORPHA:64744
Schinzel-Giedion Syndrome
Hepatoblastoma, Teratoma, Failure to thrive in infancy, Sacrococcygeal teratoma, Nephroblastoma, ... ORPHA:798
Spondyloenchondrodysplasia
Cerebral calcification, Hypothyroidism, Abnormal lateral ventricle morphology, Abnormal periventr... ORPHA:1855
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Sensorineural hearing impairment, Aganglionic megacolon, Abnormal autonomic nervous system physio... OMIM:609136
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Central diabetes insipidus, Gonadotropin deficiency, Hypohidrosis, Abnormality of the hypothalamu... ORPHA:293987
Biliary, Renal, Neurologic, And Skeletal Syndrome
Diabetes insipidus, Anterior pituitary hypoplasia, Bile duct proliferation, Inguinal hernia, Fail... OMIM:619534
Isolated Biliary Atresia
Hypothyroidism, Small for gestational age, Bile duct proliferation, Hypopituitarism, Atretic gall... ORPHA:30391
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Seizure, Exaggerated startle response OMIM:618367
Monosomy 18Q
Hypothyroidism, Slender build, Microcephaly, Secondary growth hormone deficiency, Failure to thri... ORPHA:1600
Trisomy 10P
Low-set ears, EEG with burst suppression, Abnormal auditory evoked potentials, Posteriorly rotate... ORPHA:171929
Cockayne Syndrome Type 1
Hearing impairment, Macrotia, Absent brainstem auditory responses, Optic atrophy, Abnormality of ... ORPHA:90321
Cryptococcosis
Neoplasm, Lymphoid leukemia ORPHA:1546
Chronic Thromboembolic Pulmonary Hypertension
Myeloproliferative disorder, Obesity, Neoplasm ORPHA:70591
Tbck-Related Intellectual Disability Syndrome
Hypothyroidism, Cryptorchidism, Hyperthyroidism, Central adrenal insufficiency, Microcephaly, Abn... ORPHA:488632
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome
Large for gestational age, Supernumerary nipple, Microcephaly, Inguinal hernia, Hypoplasia of the... OMIM:213980
Hyperekplexia 2
Myoclonus, Exaggerated startle response OMIM:614619
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Lymphoma, Leukemia ORPHA:2526
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hashimoto thyroiditis, Decreased response to growth hormone stimulation test, Hypoparathyroidism OMIM:618223
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Decreased response to growth hormone stimulation test, Prostatitis, Delayed puberty OMIM:307200
Spastic Tetraplegia And Axial Hypotonia, Progressive
Ataxia, Exaggerated startle response OMIM:618598
Dominant Beta-Thalassemia
Adrenal insufficiency, Hypothyroidism, Failure to thrive in infancy, Hypopituitarism, Hypoparathy... ORPHA:231226
Duplication Of The Pituitary Gland
Abnormal hypothalamus morphology, Decreased body weight, Agenesis of corpus callosum, Microcephal... ORPHA:314621
Histiocytosis-Lymphadenopathy Plus Syndrome
Elbow flexion contracture, Pancreatic hypoplasia, Hypergonadotropic hypogonadism, Joint contractu... OMIM:602782
Semilobar Holoprosencephaly
Flexion contracture, Diabetes insipidus, Central hypothyroidism, Agenesis of corpus callosum, Pan... ORPHA:220386
Alobar Holoprosencephaly
Flexion contracture, Diabetes insipidus, Central hypothyroidism, Agenesis of corpus callosum, Pan... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Flexion contracture, Diabetes insipidus, Central hypothyroidism, Agenesis of corpus callosum, Pan... ORPHA:93926
Lobar Holoprosencephaly
Flexion contracture, Diabetes insipidus, Central hypothyroidism, Agenesis of corpus callosum, Pan... ORPHA:93924
Frontorhiny
Diabetes insipidus, Aplasia/Hypoplasia of the corpus callosum, Hypopituitarism, Pericallosal lipo... ORPHA:391474
Snakebite Envenomation
Hypopituitarism ORPHA:449285
Microform Holoprosencephaly
Hypothyroidism, Agenesis of corpus callosum, Panhypopituitarism, Microcephaly, Maternal diabetes ORPHA:280200
Wiedemann-Steiner Syndrome
Microcephaly, Failure to thrive, Abnormal corpus callosum morphology, Decreased response to growt... ORPHA:319182
Cerebrotendinous Xanthomatosis
Abnormality of somatosensory evoked potentials, Optic neuropathy, Decreased nerve conduction velo... ORPHA:909
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Agyria, Lissencephaly, Pachygyria, Exaggerated startle response, Type II lissencephaly, Polymicro... OMIM:253800
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Exaggerated startle response OMIM:609541
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hypothyroidism, Small for gestational age, Failure to thrive in infancy, Cryptorchidism, Posterio... ORPHA:268261
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy ORPHA:79330
Chime Syndrome
Acute leukemia ORPHA:3474
Beta-Thalassemia Major
Adrenal insufficiency, Hypothyroidism, Failure to thrive in infancy, Hypopituitarism, Hypoparathy... ORPHA:231214
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia OMIM:613563
Rubinstein-Taybi Syndrome 1
Papillary cystadenoma of the epididymis, Leukemia, Neoplasm, Truncal obesity, Failure to thrive, ... OMIM:180849
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Difficulty walking, Exaggerated startle response ORPHA:320406
Somatomammotropinoma
Hypogonadotropic hypogonadism, Pituitary prolactin cell adenoma, Anterior hypopituitarism, Elevat... ORPHA:314769
Holoprosencephaly
Diabetes insipidus, Failure to thrive in infancy, Cryptorchidism, Panhypopituitarism, Aplasia/Hyp... ORPHA:2162
Noonan Syndrome 3
Juvenile myelomonocytic leukemia OMIM:609942
Eec Syndrome
Hypohidrosis, Anterior hypopituitarism, Abnormal dental enamel morphology, Hypoplasia of the thym... ORPHA:1896
Aicardi-Goutières Syndrome
Neonatal alloimmune thrombocytopenia, Hepatosplenomegaly, Enchondroma, Chronic lymphatic leukemia ORPHA:51
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Hypothyroidism, Ischemic stroke ORPHA:90065
Poland Syndrome
Neoplasm of the breast, Retinal hamartoma, Acute leukemia ORPHA:2911
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Borjeson-Forssman-Lehmann Syndrome
EEG abnormality, Obesity, Seizure OMIM:301900
Pearson Syndrome
Exocrine pancreatic insufficiency, Adrenal insufficiency, Hypothyroidism, Small for gestational a... ORPHA:699
Cockayne Syndrome B
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic atrophy, Decreased n... OMIM:133540
Cockayne Syndrome A
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic atrophy, Decreased n... OMIM:216400
Ichthyosis And Male Hypogonadism
Gonadotropin deficiency, Hypogonadotropic hypogonadism, Male hypogonadism OMIM:308200
Koolen-De Vries Syndrome Due To A Point Mutation
Hypothyroidism, Primary adrenal insufficiency, Pineal cyst, Agenesis of corpus callosum, Small fo... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hypothyroidism, Primary adrenal insufficiency, Pineal cyst, Agenesis of corpus callosum, Small fo... ORPHA:363958
Witteveen-Kolk Syndrome
Dysplastic corpus callosum, Small for gestational age, Cryptorchidism, Obesity, Congenital diaphr... OMIM:613406
Wiedemann-Rautenstrauch Syndrome
Hypogonadotropic hypogonadism, Loss of facial adipose tissue, Agenesis of corpus callosum, Slende... ORPHA:3455
Gabriele-De Vries Syndrome
Hypothyroidism, Distal arthrogryposis, Agenesis of corpus callosum, Small for gestational age, Cr... ORPHA:506358
Noonan Syndrome 1
Amegakaryocytic thrombocytopenia, Failure to thrive in infancy, Juvenile myelomonocytic leukemia,... OMIM:163950
Acromegaly
Hypogonadotropic hypogonadism, Pituitary prolactin cell adenoma, Anterior hypopituitarism, Elevat... ORPHA:963
Steinert Myotonic Dystrophy
Cholelithiasis, Hyperinsulinemia, Abnormality of thyroid physiology, Decreased serum testosterone... ORPHA:273
Chronic Visceral Acid Sphingomyelinase Deficiency
Autoimmune thrombocytopenia, Splenomegaly, Neoplasm of the liver, Acute promyelocytic leukemia, H... ORPHA:77293
Mend Syndrome
Abnormal auditory evoked potentials, Low-set ears ORPHA:401973
Holoprosencephaly 7
Panhypopituitarism, Fusion of the left and right thalami, Omphalocele, Agenesis of corpus callosum OMIM:610828
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Central diabetes insipidus, Hypogonadotropic hypogonadism, Absence of Stensen duct, Cryptorchidis... OMIM:129900
Leukocyte Adhesion Deficiency
Leukocytosis, Impaired neutrophil chemotaxis, Thrombocytosis, Acute myeloid leukemia, Abnormality... ORPHA:2968
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Central diabetes insipidus, Hypogonadotropic hypogonadism, Absence of Stensen duct, Cryptorchidis... OMIM:604292
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Microcephaly, Obesity, Hypothyroidism, Decreased response to growth hormone stimulation test ORPHA:444077
Hartsfield Syndrome
Gonadotropin deficiency, Diabetes insipidus, Agenesis of corpus callosum, Cryptorchidism, Microce... OMIM:615465
Gm1 Gangliosidosis Type 1
Seizure, Exaggerated startle response ORPHA:79255
Lysinuric Protein Intolerance
Failure to thrive, Decreased response to growth hormone stimulation test, Pancreatitis ORPHA:470
Microphthalmia, Syndromic 6
Hypothyroidism, Female hypogonadism, Abnormality of the hypothalamus-pituitary axis, Flexion cont... OMIM:607932
Sotos Syndrome
Neuroblastoma, Cholesteatoma, Neoplasm, Hemangioma, Sacrococcygeal teratoma, Astrocytoma, Acute l... ORPHA:821
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Multiple enchondromatosis, Lymphangioma, Cavernous hemangioma, Cavernous hemangioma of the face, ... ORPHA:99646
Axenfeld-Rieger Syndrome, Type 1
Decreased response to growth hormone stimulation test OMIM:180500
Charge Syndrome
Gonadotropin deficiency, Hypogonadotropic hypogonadism, Hypothyroidism, Arrhinencephaly, Delayed ... OMIM:214800
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Dystonia, Bilateral tonic-clonic seizure on awakening, Inability to walk, Generalized tonic seizu... ORPHA:438213
Charge Syndrome
Hypogonadotropic hypogonadism, Cryptorchidism, Anterior hypopituitarism, Microcephaly, Abnormalit... ORPHA:138
Peters Plus Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the corpus callosum, Anterior hypopituitarism, Congenital h... ORPHA:709
Alström Syndrome
Hyoplasia of the Leydig cells, Primary hypothyroidism, Precocious puberty in females, Puberty and... ORPHA:64
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Seizure, Exaggerated startle response OMIM:619522
Borjeson-Forssman-Lehmann Syndrome
Cryptorchidism, Truncal obesity, Microcephaly, Camptodactyly of toe, Hypogonadism, Decreased test... 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

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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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