{"Name":"Gonadotropin-independent familial sexual precocity","DiseaseID__c":"GARD:0004475","id":4475,"encodedName":"gonadotropin-independent-familial-sexual-precocity","IsDeleted":false,"Disease_Name_Full__c":"Gonadotropin-independent familial sexual precocity","Xref_IDs__c":"237818003; C0342549; DOID:0111545; MEDGEN:87444; MONDO:0008303; OMIM:176410; ORPHA:3000","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0008303","Disease_Description__c":"Familial male limited precocious puberty (FMPP) is a gonadotropin-independent familial form of male-limited precocious puberty, generally presenting between 2-5 years of age as accelerated growth, early development of secondary sexual characteristics and reduced adult height.","GARD_Name__c":"Gonadotropin-independent familial sexual precocity","GARD_Synonym__c":"familial gonadotropin-independent male-limited sexual precocity; familial male-limited precocious puberty; familial testotoxicosis; fmpp; leydig cell adenoma, somatic, with precocious puberty; lhcgr peripheral precocious puberty; male-limited precocious puberty; peripheral precocious puberty caused by mutation in lhcgr; precocious puberty, male; testotoxicosis; testotoxicosis, familial","Curated_Disease_Description_Source__c":"GARD:0004475","Curated_Disease_Description__c":"Familial male-limited precocious puberty is a condition that causes early sexual maturity in males; females are not affected. Boys with this disorder begin exhibiting the signs of puberty in early childhood, between the ages of 2 and 5. Signs of male puberty include a deepening voice, acne, increased body hair, underarm odor, growth of the penis and testes, and spontaneous erections. Changes in behavior, such as increased aggression and early interest in sex, may also occur. Without treatment, affected boys grow quickly at first, but they stop growing earlier than usual. As a result, they tend to be shorter in adulthood compared with other members of their family.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:3000","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008303","ORPHANET_ID__c":"ORPHA:3000","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Pubertad precoz familiar limitada al varón","Spanish_Description_Source__c":"ORPHA:3000","Spanish_Description__c":"La pubertad familiar precoz limitada al varón (FMPP) es una forma familiar independiente de gonadotropinas de pubertad precoz limitada al varón que se presenta generalmente entre los 2 y los 5 años de edad en forma de crecimiento acelerado, desarrollo temprano de las características sexuales secundarias y talla reducida en la edad adulta.","Spanish_Disease_Name__c":"pubertad precoz familiar limitada al varón","Spanish_GARD_Synonym__c":"fmpp; pubertad precoz familiar independiente de gonadotropinas limitada al varón; pubertad precoz limitada al varón; testotoxicosis","Category_Linearization__c":"ORPHA:97978","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Familial male-limited precocious puberty is a condition that causes early sexual maturity in males; females are not affected. Boys with this disorder begin exhibiting the signs of puberty in early childhood, between the ages of 2 and 5. Signs of male puberty include a deepening voice, acne, increased body hair, underarm odor, growth of the penis and testes, and spontaneous erections. Changes in behavior, such as increased aggression and early interest in sex, may also occur. Without treatment, affected boys grow quickly at first, but they stop growing earlier than usual. As a result, they tend to be shorter in adulthood compared with other members of their family.","Curated_Disease_Description_Source__c":"GARD:0004475","GARD_Synonym__c":"familial gonadotropin-independent male-limited sexual precocity; familial male-limited precocious puberty; familial testotoxicosis; fmpp; leydig cell adenoma, somatic, with precocious puberty; lhcgr peripheral precocious puberty; male-limited precocious puberty; peripheral precocious puberty caused by mutation in lhcgr; precocious puberty, male; testotoxicosis; testotoxicosis, familial","Name":"Gonadotropin-independent familial sexual precocity","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Endocrine","Tag_Category__c":"Disease Category;Specialist","category_description":"Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).","curated_tag_name":"Endocrine diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:3000"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0342549"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0004475","Source__c":"RareSource"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=237818003","Source__c":"MONDO:0008303","Xref__c":"237818003"},{"URL__c":"https://www.omim.org/entry/176410","Source__c":"C0342549; MONDO:0008303; ORPHA:3000","Xref__c":"OMIM:176410"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=87444","Source__c":"C0342549","Xref__c":"MEDGEN:87444"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0342549","Source__c":"C0342549","Xref__c":"C0342549"},{"URL__c":"https://www.orpha.net/en/disease/detail/3000","Source__c":"C0342549; MONDO:0008303; ORPHA:3000","Xref__c":"ORPHA:3000"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111545","Source__c":"MONDO:0008303","Xref__c":"DOID:0111545"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008303","Source__c":"GARD:0004475","Xref__c":"MONDO:0008303"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=725295005","Source__c":"C0342549","Xref__c":"725295005"},{"URL__c":"https://medlineplus.gov/genetics/condition/familial-male-limited-precocious-puberty","Source__c":"GARD:0004475","Xref__c":"https://medlineplus.gov/genetics/condition/familial-male-limited-precocious-puberty"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"LHCGR","GHR_URL__c":"https://medlineplus.gov/genetics/gene/lhcgr","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:3000","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003251","HPO_Synonym__c":"Male infertility","HPO_Name__c":"Male infertility","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3000","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007018","HPO_Synonym__c":"ADHD; Attention deficit; Attention deficit disorder; Attention deficit-hyperactivity disorder; Attention deficits; Childhood attention deficit/hyperactivity disorder","HPO_Name__c":"Attention deficit hyperactivity disorder","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3000","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000826","HPO_Synonym__c":"Early onset of puberty; Early puberty","HPO_Name__c":"Precocious puberty","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3000","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001061","HPO_Synonym__c":"Acne","HPO_Name__c":"Acne","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3000","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of abnormally large testes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000053","HPO_Synonym__c":"Large testicles; Large testis","HPO_Name__c":"Macroorchidism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3000","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Atypical behavior is an abnormality in a person's actions that can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000708","HPO_Synonym__c":"Behavioral abnormality; Behavioral changes; Behavioral disorders; Behavioral disturbances; Behavioral problems; Behavioral symptoms; Behavioral/psychiatric abnormalities; Behavioural symptoms; Behavioural/Psychiatric abnormality; Psychiatric disorders; Psychiatric disturbances","HPO_Name__c":"Atypical behavior","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3000","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000798","HPO_Synonym__c":"Low sperm count; Oligospermia","HPO_Name__c":"Oligozoospermia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3000","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005616","HPO_Synonym__c":"Advanced bone age; Early bone maturation; Premature epiphyseal closure; Premature epiphyseal ossification; Premature fusion of the epiphyseal growth plate","HPO_Name__c":"Accelerated skeletal maturation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3000","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the hair.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001595","HPO_Synonym__c":"Abnormality of the hair; Hair abnormality","HPO_Name__c":"Abnormal hair morphology","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3000","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A height above that which is expected according to age and sex norms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000098","HPO_Synonym__c":"Accelerated linear growth; Increased body height; Increased linear growth; Tall stature","HPO_Name__c":"Tall stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3000","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Penile length more than 2 SD above the mean for age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000040","HPO_Synonym__c":"Enlarged penis; Long penis","HPO_Name__c":"Long penis","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine"],"Specialist":["Genetics","Endocrine","Pediatrics"]},"synonyms":["familial gonadotropin-independent male-limited sexual precocity"," familial male-limited precocious puberty"," familial testotoxicosis"," fmpp"," leydig cell adenoma, somatic, with precocious puberty"," lhcgr peripheral precocious puberty"," male-limited precocious puberty"," peripheral precocious puberty caused by mutation in lhcgr"," precocious puberty, male"," testotoxicosis"," testotoxicosis, familial"]}