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Gene: Phf6 MGI:1918248

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Phf6tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
abnormal auditory brainstem response Phf6tm1b(EUCOMM)Wtsi HET Early adult 1.56×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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, Seizure, Obesity 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
Acute lymphoblastic leukemia, Lymphoma, T-cell acute lymphoblastic leukemias 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
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Myeloproliferative Disorder, Chronic, With Eosinophilia
Malignant eosinophil proliferation, Eosinophilia, Myeloproliferative disorder OMIM:131440
Glioma susceptibility 9
Renal neoplasm, Astrocytoma, Glioma, Neoplasm of the lung, Leukemia OMIM:616568
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Leukemia, Lymphoma, Monoclonal immuno... 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
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Hypothyroidism, Central, With Testicular Enlargement
Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra... OMIM:300888
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Splenomegaly, Anemia, Refractory anemia with ringed sideroblasts, Erythro... OMIM:133180
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume, Myelodysplasia OMIM:252270
Isolated Growth Hormone Deficiency, Type Iv
Impaired growth-hormone response to insulin stimulation test, Decreased serum insulin-like growth... OMIM:618157
Spermatogenic Failure 14
Abnormal circulating testosterone concentration, Abnormal circulating luteinizing hormone concent... OMIM:615842
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... OMIM:262600
Glioma Susceptibility 3
Acute myeloid leukemia, Glioblastoma multiforme, Astrocytoma, B Acute Lymphoblastic Leukemia, Med... OMIM:613029
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Obesity, 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
Spermatogenic Failure, X-Linked, 4
Abnormal prolactin level, Decreased serum testosterone concentration, Elevated circulating follic... OMIM:301077
Nut Midline Carcinoma
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... ORPHA:443167
Mismatch Repair Cancer Syndrome 2
Glioblastoma multiforme, T-cell acute lymphoblastic leukemias OMIM:619096
Post-Traumatic Pituitary Deficiency
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c... ORPHA:95619
Isolated Growth Hormone Deficiency, Type Ib
Reduced circulating growth hormone concentration, Decreased response to growth hormone stimulatio... OMIM:612781
Isolated Growth Hormone Deficiency, Type Ii
Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te... OMIM:173100
Chromosome 14Q32 Duplication Syndrome, 700-Kb
Acute myeloid leukemia, Chronic myelomonocytic leukemia OMIM:616604
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Decreased response to growth hormone stimulation test OMIM:615925
Pituitary Carcinoma
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... ORPHA:300385
Pyknoachondrogenesis
Stillbirth OMIM:265880
Ane Syndrome
Decreased serum insulin-like growth factor 1, Multiple joint contractures, Hypogonadotropic hypog... ORPHA:157954
Fanconi Anemia, Complementation Group G
Myelodysplasia, Thrombocytopenia, Neutropenia, Leukemia, Anemia OMIM:614082
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Anterior pituitary hypoplasia, Reduced circulating p... OMIM:613038
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Acute myeloid leukemia OMIM:246470
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... OMIM:151623
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71526
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating... ORPHA:99832
Prolactin Deficiency, Isolated
Reduced circulating prolactin concentration OMIM:264110
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Decreased thyroid-stimulating hormone level, Decreased serum insulin-like growth factor 1, Ectopi... OMIM:620303
Lymphedema, Primary, With Myelodysplasia
Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Leukemia, Decreased CD4:CD8 ratio, Verrucae OMIM:614038
Leukemia, Chronic Myeloid
Ph-positive acute lymphoblastic leukemia, Chronic myelogenous leukemia OMIM:608232
Hereditary Geniospasm
EEG abnormality, Abnormal social behavior, Chin myoclonus, Intention tremor ORPHA:53372
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Myelodysplasia, Lymphoma, Leukopenia, Monocytosis OMIM:616871
Li-Fraumeni Syndrome
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... ORPHA:524
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal... OMIM:619755
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Anemia, Increased mean corpuscular volume, ... OMIM:619041
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased response to growth hormone stimulation test, Isosexual pr... ORPHA:91348
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Lymphoproliferative disorder, Autoimmune thrombocytopenia, Spleno... OMIM:614470
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2
Pancytopenia, Myeloid leukemia, Aplastic anemia, Leukemia OMIM:614743
Panhypophysitis
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... ORPHA:95513
Alpha-Thalassemia-Myelodysplastic Syndrome
Myelodysplasia, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thr... ORPHA:231401
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Adenohypophysitis
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... ORPHA:95512
Myelocytic Leukemia-Like Syndrome, Familial, Chronic
Chronic myelogenous leukemia OMIM:600080
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Leukocytosis, Multiple lineage myelodysplasia, Myelodysplasia ORPHA:98827
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Adrenocorti... ORPHA:231720
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
EEG abnormality, Abnormal social behavior, Seizure ORPHA:436151
Pituicytoma
Hypopituitarism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ... ORPHA:251623
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Reduced subcutaneous adipose tissue, Hypogonadotropic hypogonadism, Limb joint contracture, Centr... OMIM:612079
Fanconi Anemia, Complementation Group D1
Acute myeloid leukemia, Failure to thrive, T-cell acute lymphoblastic leukemias OMIM:605724
N Syndrome
Leukemia, Neoplasm OMIM:310465
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Truncal obesity, Abdominal obesity, Decreased response to growth hormone stimulation test, Anteri... OMIM:618160
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Squamous cell carcinoma, Prostate cancer, Neutropenia, B-cell lymphoma, Myelodysplasia, T-cell ly... ORPHA:158057
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decrease... ORPHA:453533
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Splenomegaly, Eosinophilia OMIM:607685
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Myelodysplasia, Neutropenia OMIM:610738
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... ORPHA:300373
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Immunodeficiency 21
Aplastic anemia, Myelodysplasia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropen... OMIM:614172
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Histiocytosis ORPHA:157991
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Acute monocytic leukemia, Myelodysplasia, Lymphoma, Neuroblastoma, Abnorm... OMIM:601399
Pituitary Hormone Deficiency, Combined, 3
Anterior hypopituitarism, Gonadotropin deficiency, Decreased response to growth hormone stimulati... OMIM:221750
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia OMIM:616873
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Myelodysplasia, Abnormal erythrocyte mor... ORPHA:86841
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Storage Pool Platelet Disease
Decreased mean platelet volume, Myelodysplasia, Acute leukemia OMIM:185050
Dohle Bodies And Leukemia
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia OMIM:223350
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Panhypopituitarism, Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:300123
Acute Promyelocytic Leukemia
Acute promyelocytic leukemia OMIM:612376
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... ORPHA:226307
Primary Erythromelalgia
Leukemia ORPHA:90026
Gangliocytoma
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar... ORPHA:251937
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te... ORPHA:67045
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Anemia of inadequate pro... ORPHA:75564
Sheehan Syndrome
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... ORPHA:91355
Cutaneous Neuroendocrine Carcinoma
Brain neoplasm, Lymphoid leukemia, Neoplasm of the outer ear, Basal cell carcinoma, Squamous cell... ORPHA:79140
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Small pituitary gland, Delayed puberty OMIM:612702
Amed Syndrome, Digenic
Acute myeloid leukemia, Myelodysplasia, Thrombocytopenia, Leukopenia, Failure to thrive, Anemia OMIM:619151
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias OMIM:620044
Non-Acquired Isolated Growth Hormone Deficiency
Anterior hypopituitarism ORPHA:631
Pituitary Apoplexy
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... ORPHA:95613
Mismatch Repair Cancer Syndrome 1
Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ... OMIM:276300
Ovarian Dysgenesis 4
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Decreased bod... OMIM:616185
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Pituitary Dwarfism With Large Sella Turcica
Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:262710
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Small pituitary gland OMIM:614880
Developmental And Epileptic Encephalopathy 108
Small pituitary gland OMIM:620115
Joubert Syndrome 38
Decreased serum insulin-like growth factor 1, Small pituitary gland, Decreased response to growth... OMIM:619476
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... OMIM:619613
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... ORPHA:320401
Panhypopituitarism, X-Linked
Panhypopituitarism OMIM:312000
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:90695
Premature Ovarian Failure 17
Elevated circulating luteinizing hormone level, Decreased inhibin B level, Decreased serum estrad... OMIM:619146
Wt Limb-Blood Syndrome
Thrombocytopenia, Pancytopenia, Hypoplastic anemia, Leukemia OMIM:194350
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Myelodysplasia, Hematologi... ORPHA:98849
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Myelodysplasia, Acute lymphoblastic leukem... ORPHA:486
Meningioma
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Re... ORPHA:2495
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Central hypothyroidism, Abnormal th... OMIM:616113
Septooptic Dysplasia
Diabetes insipidus, Decreased response to growth hormone stimulation test, Anterior pituitary hyp... OMIM:182230
Sim1-Related Prader-Willi-Like Syndrome
Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism, Xerostomia... ORPHA:398079
Congenital Disorder Of Glycosylation, Type Iiq
Small pituitary gland OMIM:617395
Pituitary Adenoma 1, Multiple Types
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... OMIM:102200
Ataxia-Pancytopenia Syndrome
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... OMIM:159550
Cog2-Cdg
Small pituitary gland ORPHA:435934
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Anemia, Thrombocytopenia OMIM:616435
Prader-Willi Syndrome
Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious puberty, Cry... ORPHA:739
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Deafness-Lymphedema-Leukemia Syndrome
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Weight loss, Myeloprolifer... ORPHA:3226
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Tumor Predisposition Syndrome 2
Acute myeloid leukemia, Schwannoma, Uveal melanoma, Juvenile type ovarian granulosa cell tumor, D... OMIM:619975
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased circulating A... OMIM:613986
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... OMIM:619326
Aggressive Systemic Mastocytosis
Pancytopenia, Hematological neoplasm, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatospleno... ORPHA:98850
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit... ORPHA:91350
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Congenital adrenal hypoplasia, Cryptorchidism, Decreased circulating luteinizing hormone level OMIM:202150
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin ... ORPHA:2232
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Cryptorchidism, Decreased ci... OMIM:616030
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Nephroblastoma, Leukemia, Meningioma OMIM:602501
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Hypogonadism, Hyperpituitarism, Ant... ORPHA:91351
Magel2-Related Prader-Willi-Like Syndrome
Premature pubarche, Precocious puberty, Cryptorchidism, Flexion contracture, Xerostomia, Increase... ORPHA:398069
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... OMIM:308750
Hsd10 Disease
Short attention span, Ataxia, Tremor, Choreoathetosis, Seizure, Gait disturbance, Myoclonus, Abno... ORPHA:391417
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... ORPHA:98754
Joubert Syndrome 26
Panhypopituitarism, Decreased response to growth hormone stimulation test, Central hypothyroidism OMIM:616784
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Short attention span, Exaggerated startle response, Inability to walk, Seizure, Irritability, Sta... OMIM:617864
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... OMIM:615926
Ovarian Dysgenesis 8
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Decreased serum estradiol, Ele... OMIM:618187
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Decreased testicu... OMIM:229070
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... ORPHA:98793
Oliver-Mcfarlane Syndrome
Small for gestational age, Hypogonadotropic hypogonadism, Decreased response to growth hormone st... OMIM:275400
Myelofibrosis
Splenomegaly, Myeloproliferative disorder OMIM:254450
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... ORPHA:177904
Thymoma
Aplastic anemia, Pure red cell aplasia, Neoplasm of head and neck, Imbalanced hemoglobin synthesi... ORPHA:99867
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... ORPHA:177901
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:95494
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... OMIM:614842
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Decreased res... ORPHA:293978
Leptin Receptor Deficiency
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:614963
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality OMIM:617519
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Leukocytosis, Weight loss, Lymphocytosis, Hypochromic anemia, Anemia ORPHA:514
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu... ORPHA:54595
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Decreased response to growth hormone stimulation test, Precocious puberty, Pituitary adenoma, Adr... ORPHA:91354
Fg Syndrome Type 1
Inguinal hernia, Progressive flexion contractures, Cryptorchidism, Small pituitary gland, Umbilic... ORPHA:93932
Culler-Jones Syndrome
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Cryptorchidism, Hypogonadism, Hypopit... OMIM:615849
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Pancytopenia, Aplastic anemia, Myelodysplasia, Myeloid leukemia, Anemia OMIM:614742
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... ORPHA:91347
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Cryptorchidism,... ORPHA:3363
Bonnemann-Meinecke-Reich Syndrome
Decreased response to growth hormone stimulation test ORPHA:1261
Pseudohypoparathyroidism Type 1C
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:79444
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased serum testosterone co... OMIM:614839
Abcd Syndrome
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... OMIM:600501
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Abnormal fear-induced behavior, Seizure, Inappropriate behavior, Co... ORPHA:309246
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Female Restricted Epilepsy With Intellectual Disability
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal-onset seizure, Generalized non-... ORPHA:101039
Hypergonadotropic Hypogonadism-Cataract Syndrome
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of secondary se... ORPHA:2410
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... OMIM:308700
Orthostatic Hypotension 1
Reduced circulating prolactin concentration OMIM:223360
Septo-Optic Dysplasia Spectrum
Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchidism, Obesity, Hypohidrosis, Abnormal... ORPHA:3157
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis ORPHA:86843
Familial Thrombocytosis
Acute myeloid leukemia, Myelodysplasia, Splenomegaly, Weight loss, Chronic myelogenous leukemia, ... ORPHA:71493
Ovarian Dysgenesis 7
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:618117
Premature Ovarian Failure 14
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:618014
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Cryptorchidism, Decreased circulating luteinizing hormone level, Decreased circulating follicle s... OMIM:614897
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating dihydrotestosterone concentration, Decreased... OMIM:228300
Essential Thrombocythemia
Splenomegaly, Abnormal platelet morphology, Myelodysplasia, Acute leukemia ORPHA:3318
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Failure to thrive, Decreased response to growth hormone stimulation test OMIM:245590
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Exaggerated startle response, Focal impaired awareness seizure, G... ORPHA:163985
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Immunodeficiency 36 With Lymphoproliferation
B-cell lymphoma, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B... OMIM:616005
Pseudohypoparathyroidism Type 1A
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:79443
Chilblain Lupus
Chronic myelomonocytic leukemia ORPHA:90280
Spermatogenic Failure 28
Decreased testicular size, Decreased serum testosterone concentration, Elevated circulating folli... OMIM:618086
Retinoblastoma
Lymphoma, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma OMIM:180200
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Small pituitary gland OMIM:614195
Childhood Absence Epilepsy
Bilateral tonic-clonic seizure, Typical absence seizure, Depression, Attention deficit hyperactiv... ORPHA:64280
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Single lineage myelodysplasia, Anemia of inadequate production, Leukocyto... ORPHA:86839
Syndromic Recessive X-Linked Ichthyosis
Testicular seminoma, Acute leukemia ORPHA:281090
Lig4 Syndrome
Pancytopenia, Small for gestational age, Myelodysplasia, Acute lymphoblastic leukemia, Failure to... OMIM:606593
Endocardial Fibroelastosis
Cryptorchidism, Anterior hypopituitarism ORPHA:2022
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Pituitary hypothyroidism, Anterior pituitary hypoplasia OMIM:619983
Ovarian Dysgenesis 9
Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Decreased serum estradio... OMIM:619665
Mehmo Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Obesity, Delaye... OMIM:300148
Chromosome 14Q11-Q22 Deletion Syndrome
Inguinal hernia, Unilateral cryptorchidism, Anterior pituitary hypoplasia, Bilateral cryptorchidi... OMIM:613457
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Precocious Puberty, Central, 1
Hypothyroidism, Isosexual precocious puberty, Elevated circulating follicle stimulating hormone l... OMIM:176400
Chromosome Xq26.3 Duplication Syndrome
Elevated circulating growth hormone concentration, Pituitary adenoma, Hyperhidrosis, Increased ci... OMIM:300942
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Decreased circula... OMIM:614837
Acth Deficiency, Isolated
Decreased circulating cortisol level, Adrenocorticotropic hormone deficiency, Adrenal hypoplasia OMIM:201400
Turcot Syndrome With Polyposis
Glioblastoma multiforme, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Glioma, Pilomatrixoma... ORPHA:99818
Nasu-Hakola Disease
Acute leukemia ORPHA:2770
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Ataxia, Irritabilit... OMIM:616881
Acromelic Frontonasal Dysplasia
Cryptorchidism, Hypopituitarism, Anterior pituitary hypoplasia, Midline central nervous system li... ORPHA:1827
Ovarian Dysgenesis 10
Streak ovary, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Decreased ... OMIM:619834
Autoimmune Hemolytic Anemia, Warm Type
Splenomegaly, Autoimmune hemolytic anemia, Lymphoproliferative disorder, Chronic lymphatic leukemia ORPHA:90033
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Metachromatic Leukodystrophy, Juvenile Form
Short attention span, Decreased nerve conduction velocity, Progressive psychomotor deterioration,... ORPHA:309263
Pituitary Adenoma 2, Growth Hormone-Secreting
Pituitary adenoma, Elevated circulating growth hormone concentration OMIM:300943
Pyoderma Gangrenosum
Myeloid leukemia, Myelodysplasia ORPHA:48104
Ataxia-Telangiectasia
Lymphopenia, Lymphoma, Hodgkin lymphoma, Acute lymphoblastic leukemia, T lymphocytopenia, Hypopla... OMIM:208900
Temple Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... ORPHA:254516
Deeah Syndrome
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Cryptorchid... OMIM:619004
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Hypogonadotropic hypogonadism, Female hypogonadism, Delayed mena... ORPHA:52901
Multiple Endocrine Neoplasia, Type I
Subcutaneous lipoma, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentra... OMIM:131100
Premature Ovarian Failure 8
Streak ovary, Elevated circulating luteinizing hormone level, Ovarian neoplasm, Decreased serum e... OMIM:615723
Metachromatic Leukodystrophy, Adult Form
Short attention span, Decreased nerve conduction velocity, Progressive psychomotor deterioration,... ORPHA:309271
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Confusion, Seizure, Dementia, Myoclonus, Semantic dementia, Memory impairment, Abnormal s... ORPHA:1020
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Small for gestational age, Myelodysplasia, Thrombocytopenia... OMIM:260400
Rhyns Syndrome
Anterior hypopituitarism, Reduced circulating growth hormone concentration, Decreased response to... OMIM:602152
Kearns-Sayre Syndrome
Anterior hypopituitarism ORPHA:480
Fanconi Anemia, Complementation Group E
Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thromb... OMIM:600901
Hypertriglyceridemia 1
Hypopituitarism OMIM:145750
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... ORPHA:1215
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Large for gestational age, Multiple pancreatic... ORPHA:79644
Fanconi Anemia, Complementation Group A
Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thromb... OMIM:227650
X-Linked Hypohidrotic Ectodermal Dysplasia
Type I diabetes mellitus, Anterior hypopituitarism, Hypohidrosis ORPHA:181
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Failure to thrive, Decreased response to growth hormone stimulation test OMIM:615286
Pallister-Hall Syndrome
Thyroid hypoplasia, Inguinal hernia, Adrenal hypoplasia, Large for gestational age, Precocious pu... ORPHA:672
Tay-Sachs Disease
Psychomotor deterioration, Seizure, Exaggerated startle response, Dementia OMIM:272800
Lig4 Syndrome
Leukocytosis, Lymphoma, Pancytopenia, Acute leukemia ORPHA:99812
Shwachman-Diamond Syndrome
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... ORPHA:811
Tatton-Brown-Rahman Syndrome
Myeloid leukemia, Neuroendocrine neoplasm, Obesity ORPHA:404443
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ... ORPHA:90793
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Prelingual ... ORPHA:52368
Polycythemia Vera
Splenomegaly, Acute leukemia, Myelodysplasia, Weight loss ORPHA:729
Zollinger-Ellison Syndrome
Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ... ORPHA:913
Developmental And Epileptic Encephalopathy 8
Frontal polymicrogyria, Exaggerated startle response, Bilateral tonic-clonic seizure, Tonic seizu... OMIM:300607
Diffuse Cutaneous Mastocytosis
Myeloproliferative disorder, Abnormality of the spleen, Lymphocytosis ORPHA:79456
Prolactinoma
Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating growth hormone concentra... ORPHA:2965
Bloom Syndrome
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Malignant genitourinary tra... ORPHA:125
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Flexion contracture, Small pituitary gland OMIM:619479
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Sweet Syndrome
Acute myeloid leukemia, Neutrophilia, Hematological neoplasm, Leukocytosis, Breast carcinoma, Chr... ORPHA:3243
Short Stature-Wormian Bones-Dextrocardia Syndrome
Cryptorchidism, Anterior hypopituitarism, Camptodactyly of finger ORPHA:2863
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Emotional lability, Ch... OMIM:608643
Galloway-Mowat Syndrome 6
Hypothyroidism, Decreased response to growth hormone stimulation test, Decreased body weight OMIM:618347
Fanconi Anemia, Complementation Group C
Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thromb... OMIM:227645
Nelson Syndrome
Increased urinary cortisol level, Testicular neoplasm, Pituitary corticotropic cell adenoma, Adre... ORPHA:199244
Isolated Exencephaly
Posterior pituitary agenesis, Anterior pituitary hypoplasia, Maternal diabetes ORPHA:563612
Retinoblastoma
Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Melanoma, Retinoblastoma, Leuk... ORPHA:790
Rothmund-Thomson Syndrome Type 1
Aplastic anemia, Small for gestational age, Myelodysplasia, Squamous cell carcinoma, Basal cell c... ORPHA:221008
Porphyria Due To Ala Dehydratase Deficiency
Abnormal erythrocyte enzyme level, Myeloproliferative disorder ORPHA:100924
Rothmund-Thomson Syndrome Type 2
Aplastic anemia, Small for gestational age, Myelodysplasia, Lymphoma, Squamous cell carcinoma, Ba... ORPHA:221016
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Failure to thrive, Status epilepticus, Myoclonus OMIM:618201
Rothmund-Thomson Syndrome
Aplastic anemia, Small for gestational age, Myelodysplasia, Squamous cell carcinoma, Basal cell c... ORPHA:2909
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Leukemia, Myelodysplasia OMIM:619951
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Cryptorchidism, Decreased circulating luteinizing hormone level, D... OMIM:619761
Septopreoptic Holoprosencephaly
Precocious puberty, Anterior hypopituitarism, Central diabetes insipidus ORPHA:280195
Rhyns Syndrome
Hypopituitarism ORPHA:140976
Noonan Syndrome 6
Juvenile myelomonocytic leukemia OMIM:613224
Waldenström Macroglobulinemia
Normocytic anemia, Abnormality of neutrophils, Splenomegaly, Lymphoma, Leukemia, Monoclonal immun... ORPHA:33226
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... OMIM:300845
Tay-Sachs Disease
Short attention span, Exaggerated startle response, Tremor, Inability to walk, Typical absence se... ORPHA:845
Nijmegen Breakage Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Glioma, B-cell lymphoma, Cachexia, Rhabdomyosarcom... ORPHA:647
Metachromatic Leukodystrophy, Late Infantile Form
Decreased nerve conduction velocity, Gait ataxia, Seizure, Progressive gait ataxia, Tip-toe gait,... ORPHA:309256
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Hydranencephaly
Thalamic edema, Dysgenesis of the thalamus, Atrophic pituitary gland ORPHA:2177
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... OMIM:617052
Bloom Syndrome
Small for gestational age, Elevated hemoglobin A1c, Lymphoma, Squamous cell carcinoma, Leukemia OMIM:210900
Prader-Willi Syndrome Due To Translocation
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Anterior pi... ORPHA:177907
Mosaic Variegated Aneuploidy Syndrome 1
Nephroblastoma, Small for gestational age, Embryonal rhabdomyosarcoma, Leukemia OMIM:257300
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Decreased circulating cortisol level, Decreased circulating ACTH concentratio... ORPHA:199299
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Myoclonic seizure, Seizure, Dementia, Dystonia OMIM:272750
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Inability to walk, Exaggerated startle response, Seizure, Depression OMIM:620114
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:619260
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Short attention span, Broad-based gait, Exaggerated startle response, Ataxia, Seizure, Dystonia ORPHA:438216
Dyrk1A-Related Intellectual Disability Syndrome
Multiple joint contractures, Small for gestational age, Anterior pituitary hypoplasia, Cryptorchi... ORPHA:464306
Stiff Person Spectrum Disorder
Emotional lability, Exaggerated startle response, Falls, Difficulty walking ORPHA:3198
Lenz-Majewski Hyperostotic Dwarfism
Inguinal hernia, Anterior pituitary hypoplasia, Cryptorchidism, Elbow flexion contracture, Knee f... OMIM:151050
Diamond-Blackfan Anemia
Acute myeloid leukemia, Small for gestational age, Pure red cell aplasia, Myelodysplasia, Erythro... ORPHA:124
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... OMIM:610755
Triple A Syndrome
Anterior hypopituitarism, Adrenal insufficiency ORPHA:869
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Failure to thrive, Macroorchidism, Pituitary hypothy... ORPHA:90674
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Reduced subcutaneous adipose tissue, Hip contracture, Inguinal hernia, Decreased response to grow... OMIM:619503
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Lipodystrophy, Decreased response to growth hormone stimulation test, Hypothyroidism, Failure to ... OMIM:618922
African Trypanosomiasis
Abnormality of the endocrine system, Abnormality of renin-angiotensin system, Abnormal prolactin ... ORPHA:3385
Myasthenic Syndrome, Congenital, 22
Decreased response to growth hormone stimulation test OMIM:616224
Asparagine Synthetase Deficiency
Exaggerated startle response, Tremor, EEG with burst suppression, Clonic seizure, Simplified gyra... OMIM:615574
Simple Cryoglobulinemia
B-cell lymphoma, Chronic lymphatic leukemia, Weight loss, Multiple myeloma, Monoclonal immunoglob... ORPHA:91139
Fanconi Anemia, Complementation Group D2
Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thromb... OMIM:227646
Boomerang Dysplasia
Omphalocele, Cryptorchidism, Decreased response to growth hormone stimulation test ORPHA:1263
15Q24 Microdeletion Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Congenital diap... ORPHA:94065
Wiskott-Aldrich Syndrome
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Lymphoma, ... ORPHA:906
Late-Infantile/Juvenile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... ORPHA:206443
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... OMIM:610978
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoc... OMIM:617281
Williams-Beuren Region Duplication Syndrome
Cryptorchidism, Failure to thrive, Small for gestational age, Decreased response to growth hormon... OMIM:609757
Down Syndrome
Obesity, Acute megakaryocytic leukemia ORPHA:870
4H Leukodystrophy
Abnormality of thyroid physiology, Hypogonadotropic hypogonadism, Decreased response to growth ho... ORPHA:289494
Intellectual Disability-Strabismus Syndrome
Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te... ORPHA:363528
Neurofibromatosis Type 1
Astrocytoma, Chronic myelogenous leukemia, Multiple lipomas, Neoplasm, Pheochromocytoma, Meningio... ORPHA:636
Legius Syndrome
Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Desmoid tumors, Ovarian ne... ORPHA:137605
Holoprosencephaly 9
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... OMIM:610829
Pallister-Hall-Like Syndrome
Anterior hypopituitarism, Hypothalamic hamartoma OMIM:241800
Hypotonia-Cystinuria Syndrome
Failure to thrive, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:606407
14Q22Q23 Microdeletion Syndrome
Anterior pituitary hypoplasia, Adrenal hypoplasia, Cryptorchidism, Abnormality of the hypothalamu... ORPHA:264200
Sandhoff Disease
Exaggerated startle response, Ataxia, Bilateral tonic-clonic seizure, Progressive psychomotor det... OMIM:268800
Noonan Syndrome 12
Decreased response to growth hormone stimulation test OMIM:618624
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Seizure, Focal ... OMIM:618056
Congenital Factor Xiii Deficiency
Myeloid leukemia ORPHA:331
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Decreased testicular size, Overweight, Decreased response to growth hormone stimulation test ORPHA:457240
Idiopathic Hypereosinophilic Syndrome
Neutrophilia, Eosinophilia, Myelodysplasia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatos... ORPHA:3260
Juberg-Hayward Syndrome
Decreased response to growth hormone stimulation test OMIM:216100
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Generalized-onset seizure, Abnormal cortical gyration, Seizure, Cog... OMIM:617527
Mpdu1-Cdg
Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation test ORPHA:79323
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... ORPHA:478
Microphthalmia, Syndromic 3
Cryptorchidism, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypothalamic hamartoma OMIM:206900
Silver-Russell Syndrome 1
Testicular seminoma, Small for gestational age, Decreased response to growth hormone stimulation ... OMIM:180860
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Inguinal hernia, Anterior pituitary hypoplasia, Elbow flexion contra... OMIM:181450
Juvenile Xanthogranuloma
Myeloproliferative disorder ORPHA:158000
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Hypopituitarism, Failure to thrive, Hypohidrosis ORPHA:98813
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Hypopituitarism, Failure to thrive, Delayed puberty OMIM:600462
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Cryptorchidism, Decreased response to growth hormone stimulation test, Adrenal hypoplasia OMIM:614732
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Decreased testicular size, Hypergonadotropic hypogonadism, Decreased response to growth hormone s... ORPHA:280679
Alstrom Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Diabetes i... OMIM:203800
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Abnormal cortical gyration, Hypsarrhythmia, Seizure, Dystonia, Fail... ORPHA:521426
Sandhoff Disease, Infantile Form
Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Myoclonus ORPHA:309155
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypopituitarism, Hypothyroidism OMIM:619013
Xq21 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi... ORPHA:1435
17Q11 Microdeletion Syndrome
Multiple mucosal neuromas, Brain neoplasm, Glioma, Cerebellar glioma, Rhabdomyosarcoma, Myelodysp... ORPHA:97685
Giant Axonal Neuropathy
Abnormal pituitary gland morphology ORPHA:643
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Anterior pituitary hypoplasia, Supernumerary nipple, Bilateral cryptorchidism, Cryptorchidism, De... ORPHA:466791
Cohen Syndrome
Small for gestational age, Childhood-onset truncal obesity, Decreased response to growth hormone ... OMIM:216550
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Stiff-Person Syndrome
Depression, Exaggerated startle response, Myoclonic spasms, Opisthotonus OMIM:184850
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response, EEG with generalized slow activity, Tonic seizure, Seizure, Irritab... OMIM:618367
Hyperekplexia 1
Seizure, Exaggerated startle response, Myoclonus, Nocturnal seizures OMIM:149400
Noonan Syndrome 2
Leukemia OMIM:605275
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... ORPHA:99027
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test ORPHA:436174
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Cryptorchidism, Congenital hypoparathyroidism, Decreased response to growth hormone stimulation t... OMIM:241410
Dubowitz Syndrome
Abnormality of neutrophils, Thrombocytopenia, Lymphoma, Acute lymphoblastic leukemia, Neoplasm, A... ORPHA:235
Hyperekplexia 3
Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonus OMIM:614618
Infantile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph... ORPHA:206436
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Absent brainstem auditory responses, Sensorineural hearing i... ORPHA:101085
16P12.1P12.3 Triplication Syndrome
Bilateral cryptorchidism, Failure to thrive, Decreased response to growth hormone stimulation test ORPHA:485405
Ellis Van Creveld Syndrome
Failure to thrive, Acute leukemia ORPHA:289
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency
Bilateral cryptorchidism, Decreased response to growth hormone stimulation test, Congenital adren... OMIM:618336
Rubinstein-Taybi Syndrome 1
Accessory spleen, Small for gestational age, Papillary cystadenoma of the epididymis, Truncal obe... OMIM:180849
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Oropharyngeal squamous cell carcinoma, Pancytopenia, Myelodysplasia, Thro... OMIM:305000
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Decreased response to growth hormone stimulation test, Congenital hypothyroidism OMIM:601427
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Splenomegaly, Juvenile myelomonocytic leukemia, Failure to thrive, Hepatosplenomegaly OMIM:613563
Mosaic Variegated Aneuploidy Syndrome
Vaginal neoplasm, Rhabdomyosarcoma, Myelodysplasia, Acute lymphoblastic leukemia, Neoplasm, Nephr... ORPHA:1052
Acrodysostosis 1 With Or Without Hormone Resistance
Small for gestational age, Cryptorchidism, Elevated circulating thyroid-stimulating hormone conce... OMIM:101800
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Ataxia, Abnormal cortical gyration, Unsteady gait, Dysmetria, Nonprogressive cerebellar ataxia, M... ORPHA:314647
Solitary Median Maxillary Central Incisor
Anterior hypopituitarism, Decreased response to growth hormone stimulation test OMIM:147250
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response, Dysgyria, Myoclonic seizure OMIM:620327
Acrootoocular Syndrome
Failure to thrive, Small for gestational age, Decreased response to growth hormone stimulation te... ORPHA:2980
Igg4-Related Thyroid Disease
Nodular goiter, Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland... ORPHA:64744
Dubowitz Syndrome
Acute lymphoblastic leukemia, Neuroblastoma, Lymphoma, Aplastic anemia OMIM:223370
Srd5A3-Cdg
Hypothyroidism, Decreased response to growth hormone stimulation test ORPHA:324737
Pseudohypoparathyroidism Type 1B
Decreased response to growth hormone stimulation test, Pseudohypoparathyroidism, Elevated circula... ORPHA:94089
Schinzel-Giedion Syndrome
Sacrococcygeal teratoma, Failure to thrive in infancy, Nephroblastoma, Ependymoma, Teratoma, Hepa... ORPHA:798
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
Fanconi Anemia, Complementation Group I
Hypothyroidism, Decreased response to growth hormone stimulation test, Decreased body weight OMIM:609053
Isolated Biliary Atresia
Small for gestational age, Atretic gallbladder, Bile duct proliferation, Severe failure to thrive... ORPHA:30391
Chilton-Okur-Chung Neurodevelopmental Syndrome
Cryptorchidism, Aplasia of the right hemidiaphragm, Anterior pituitary hypoplasia OMIM:619841
Trichothiodystrophy 5, Nonphotosensitive
Panhypopituitarism, Decreased testicular size OMIM:300953
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Leukemia, Lymphoma ORPHA:2526
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Optic atrophy, Macrotia, Abnormality of peripheral nerve con... ORPHA:90321
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
Exaggerated startle response, Agyria, Seizure, Lissencephaly, Pachygyria, Polymicrogyria, Type II... OMIM:253800
Cryptococcosis
Lymphoid leukemia, Neoplasm ORPHA:1546
Prader-Willi Syndrome
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Failure to ... OMIM:176270
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... OMIM:146510
Snakebite Envenomation
Hypopituitarism ORPHA:449285
Hyperekplexia 2
Exaggerated startle response, Myoclonus OMIM:614619
Trisomy 10P
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low vo... ORPHA:171929
Chronic Thromboembolic Pulmonary Hypertension
Myeloproliferative disorder, Neoplasm, Obesity ORPHA:70591
Ritscher-Schinzel Syndrome 1
Decreased response to growth hormone stimulation test, Adrenal hypoplasia OMIM:220210
Immunodeficiency, Common Variable, 10
Central adrenal insufficiency, Abnormal response to ACTH stimulation test, Decreased response to ... OMIM:615577
Dominant Beta-Thalassemia
Hypoparathyroidism, Diabetes mellitus, Failure to thrive in infancy, Adrenal insufficiency, Delay... ORPHA:231226
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Ataxia OMIM:618598
Pycnodysostosis
Overweight, Decreased serum insulin-like growth factor 1, Decreased response to growth hormone st... ORPHA:763
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Difficulty walking ORPHA:320406
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Decreased response to growth hormone stimulation test, Bilateral camptodactyly, Delayed puberty, ... OMIM:619234
Gomez-Lopez-Hernandez Syndrome
Decreased response to growth hormone stimulation test OMIM:601853
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Acute lymphoblastic leukemia, Large for gestational age OMIM:280000
Cardiofaciocutaneous Syndrome 4
Decreased response to growth hormone stimulation test, Hyperhidrosis OMIM:615280
Cerebrotendinous Xanthomatosis
Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct... ORPHA:909
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy ORPHA:79330
Down Syndrome
Myeloproliferative disorder, Acute megakaryocytic leukemia OMIM:190685
Chime Syndrome
Acute leukemia ORPHA:3474
Frontorhiny
Pericallosal lipoma, Hypopituitarism, Diabetes insipidus, Camptodactyly of finger ORPHA:391474
Biliary, Renal, Neurologic, And Skeletal Syndrome
Inguinal hernia, Anterior pituitary hypoplasia, Bile duct proliferation, Neonatal death, Failure ... OMIM:619534
Woodhouse-Sakati Syndrome
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... ORPHA:3464
Beta-Thalassemia Major
Hypoparathyroidism, Diabetes mellitus, Failure to thrive in infancy, Adrenal insufficiency, Delay... ORPHA:231214
Fanconi Anemia, Complementation Group W
Decreased response to growth hormone stimulation test OMIM:617784
Duplication Of The Pituitary Gland
Abnormal hypothalamus morphology, Abnormal pituitary gland morphology, Decreased body weight ORPHA:314621
Microform Holoprosencephaly
Hypothyroidism, Panhypopituitarism, Maternal diabetes ORPHA:280200
Chromosome 18Q Deletion Syndrome
Inguinal hernia, Failure to thrive in infancy, Decreased response to growth hormone stimulation t... OMIM:601808
Meier-Gorlin Syndrome 6
Small for gestational age, Decreased response to growth hormone stimulation test, Cryptorchidism,... OMIM:616835
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Hypothyroidism ORPHA:90065
Somatomammotropinoma
Diabetes mellitus, Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentrati... ORPHA:314769
Aicardi-Goutières Syndrome
Enchondroma, Neonatal alloimmune thrombocytopenia, Chronic lymphatic leukemia, Hepatosplenomegaly ORPHA:51
Noonan Syndrome 3
Juvenile myelomonocytic leukemia OMIM:609942
Poland Syndrome
Retinal hamartoma, Neoplasm of the breast, Acute leukemia ORPHA:2911
Holoprosencephaly
Omphalocele, Diabetes mellitus, Failure to thrive in infancy, Congenital diaphragmatic hernia, Cr... ORPHA:2162
Cockayne Syndrome B
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... OMIM:133540
Cockayne Syndrome A
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... OMIM:216400
Mosaic Variegated Aneuploidy Syndrome 2
Small for gestational age, Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:614114
Maternal Uniparental Disomy Of Chromosome 2
Bilateral cryptorchidism, Contractures of the large joints, Hypothyroidism, Decreased response to... ORPHA:96179
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... ORPHA:96182
Borjeson-Forssman-Lehmann Syndrome
EEG abnormality, Seizure, Obesity OMIM:301900
Noonan Syndrome 1
Neurofibrosarcoma, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Failure to... OMIM:163950
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Decreased response to growth hormone stimulation test, Central diabetes insipidus, Adrenocorticot... ORPHA:293987
Fanconi Anemia, Complementation Group F
Cryptorchidism, Failure to thrive, Decreased response to growth hormone stimulation test OMIM:603467
Acromegaly
Diabetes mellitus, Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentrati... ORPHA:963
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Decreased response to growth hormone stimulation test, Delayed puberty OMIM:615866
Gm1 Gangliosidosis Type 1
Seizure, Exaggerated startle response, Dystonia ORPHA:79255
Mend Syndrome
Abnormal auditory evoked potentials, Low-set ears ORPHA:401973
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Eec Syndrome
Decreased response to growth hormone stimulation test, Abnormal dental enamel morphology, Xerosto... ORPHA:1896
Semilobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:220386
Alobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:93926
Lobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:93924
Acromelic Frontonasal Dysostosis
Tubulonodular pericallosal lipoma, Cryptorchidism, Hypopituitarism, Lipoma OMIM:603671
Histiocytosis-Lymphadenopathy Plus Syndrome
Flexion contracture of finger, Hypergonadotropic hypogonadism, Decreased response to growth hormo... OMIM:602782
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Central adrenal insufficiency, Flexion contracture, Decreased response to growth hormone stimulat... OMIM:616007
Chronic Visceral Acid Sphingomyelinase Deficiency
Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Acute promyelocytic leukemia, Thrombocy... ORPHA:77293
17Q24.2 Microdeletion Syndrome
Truncal obesity, Failure to thrive in infancy, Decreased response to growth hormone stimulation t... ORPHA:529962
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Tbck-Related Intellectual Disability Syndrome
Hyperthyroidism, Decreased response to growth hormone stimulation test, Cryptorchidism, Central a... ORPHA:488632
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Perianal abscess, Leukocytosis, Abnormality of neutrophil physiology, Imp... ORPHA:2968
Spondyloenchondrodysplasia
Hypothyroidism, Decreased response to growth hormone stimulation test ORPHA:1855
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Prostatitis, Decreased response to growth hormone stimulation test, Delayed puberty OMIM:307200
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Inguinal hernia, Small for gestational age, Decreased response to growth hormone stimulation test... ORPHA:268261
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Inguinal hernia, Decreased response to growth hormone stimulation test, Supernumerary nipple, Lar... OMIM:213980
Wiedemann-Steiner Syndrome
Failure to thrive, Decreased response to growth hormone stimulation test ORPHA:319182
Sotos Syndrome
Sacrococcygeal teratoma, Astrocytoma, Small cell lung carcinoma, Acute lymphoblastic leukemia, Ne... ORPHA:821
Pearson Syndrome
Hypoparathyroidism, Diabetes mellitus, Pancreatic fibrosis, Decreased response to growth hormone ... ORPHA:699
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Hyperthyroidism, Hypogonadotropic hypogonadism, Decreased re... ORPHA:3455
Koolen-De Vries Syndrome Due To A Point Mutation
Slender build, Decreased response to growth hormone stimulation test, Testicular neoplasm, Small ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Slender build, Decreased response to growth hormone stimulation test, Testicular neoplasm, Small ... ORPHA:363958
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Decreased response to growth hormone stimulation test OMIM:617260
Steinert Myotonic Dystrophy
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... ORPHA:273
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Obesity, Pineal cyst, Trun... OMIM:615873
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Cavernous hemangioma of the face, Acute myelomonocytic leukemia, Cavernous hemangioma, Multiple e... ORPHA:99646
Gabriele-De Vries Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Cryptorchidism,... ORPHA:506358
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Broad-based gait, Epileptic spasm, Exaggerated startle response, Inability to walk, Seizure, Myoc... ORPHA:438213
Holoprosencephaly 7
Fusion of the left and right thalami, Omphalocele, Panhypopituitarism OMIM:610828
Microphthalmia, Syndromic 6
Failure to thrive, Female hypogonadism, Adrenal hypoplasia, Cryptorchidism, Anterior hypopituitar... OMIM:607932
Hartsfield Syndrome
Cryptorchidism, Gonadotropin deficiency, Diabetes insipidus OMIM:615465
Charge Syndrome
Hypogonadotropic hypogonadism, Cryptorchidism, Abnormality of the adrenal glands, Delayed puberty... ORPHA:138
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypothyroidism, Decreased response to growth hormone stimulation test, Obesity ORPHA:444077
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Inguinal hernia, Absence of Stensen duct, Decreased response to growth hormone stimulation test, ... OMIM:129900
Lysinuric Protein Intolerance
Pancreatitis, Failure to thrive, Decreased response to growth hormone stimulation test ORPHA:470
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Hypogonadotropic ... OMIM:604292
Charge Syndrome
Hypoparathyroidism, Omphalocele, Hypogonadotropic hypogonadism, Decreased response to growth horm... OMIM:214800
Peters Plus Syndrome
Inguinal hernia, Cryptorchidism, Congenital hypothyroidism, Umbilical hernia, Anterior hypopituit... ORPHA:709
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Seizure, Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:619522
Witteveen-Kolk Syndrome
Inguinal hernia, Small for gestational age, Unilateral cryptorchidism, Decreased response to grow... OMIM:613406
Alström Syndrome
Decreased testicular size, Precocious puberty in females, Decreased response to growth hormone st... ORPHA:64
Axenfeld-Rieger Syndrome, Type 1
Decreased response to growth hormone stimulation test OMIM:180500
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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