{"Name":"Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome","DiseaseID__c":"GARD:0017301","id":17301,"encodedName":"moyamoya-angiopathy-short-stature-facial-dysmorphism-hypergonadotropic-hypogonadism-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome","Xref_IDs__c":"C3151857; MEDGEN:463207; MONDO:0010448; OMIM:300845; ORPHA:280679","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":8,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0010448","Disease_Description__c":"Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism.","GARD_Name__c":"Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome","GARD_Synonym__c":"chromosome xq28 deletion syndrome, 3.4-kb; moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism; moyamoya disease 4, x-linked recessive; moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism; syndromic moyamoya disease","Curated_Disease_Description_Source__c":"MONDO:0010448","Curated_Disease_Description__c":"Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:280679","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010448","ORPHANET_ID__c":"ORPHA:280679","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de angiopatía de moyamoya-talla baja-dismorfia facial-hipogonadismo hipergonadotrópico","Spanish_Description_Source__c":"ORPHA:280679","Spanish_Description__c":"Es un síndrome neurológico y dismórfico, hereditario y muy poco frecuente, caracterizado por la enfermedad de Moyamoya en asociación con talla baja de inicio postnatal y dismorfia facial estereotipada.","Spanish_Disease_Name__c":"síndrome de angiopatía de moyamoya-talla baja-dismorfia facial-hipogonadismo hipergonadotrópico","Spanish_GARD_Synonym__c":"enfermedad de moyamoya-talla baja-dismorfia facial-hipogonadismo hipergonadotrópico","Category_Linearization__c":"ORPHA:93890","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":"Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism.","Curated_Disease_Description_Source__c":"MONDO:0010448","GARD_Synonym__c":"chromosome xq28 deletion syndrome, 3.4-kb; moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism; moyamoya disease 4, x-linked recessive; moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism; syndromic moyamoya disease","Name":"Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonad","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Moyamoya Foundation","Website__c":"https://moyamoya-foundation.org/"}],"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":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological 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":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Urologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Infertility","Tag_Category__c":"Account","curated_tag_name":"Infertility"},{"Tag_Name__c":"Vascular Neurology","Tag_Category__c":"Specialist","curated_tag_name":"Vascular neurology"},{"Tag_Name__c":"Vascular Medicine","Tag_Category__c":"Specialist","curated_tag_name":"Vascular diseases"},{"Tag_Name__c":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:280679"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/280679","Source__c":"C3151857; MONDO:0010448","Xref__c":"ORPHA:280679"},{"URL__c":"https://www.omim.org/entry/300845","Source__c":"C3151857; MONDO:0010448; ORPHA:280679","Xref__c":"OMIM:300845"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=463207","Source__c":"C3151857","Xref__c":"MEDGEN:463207"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3151857","Source__c":"C3151857","Xref__c":"C3151857"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010448","Source__c":"GARD:0017301","Xref__c":"MONDO:0010448"}],"Inheritance__c":["X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:280679","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000445","HPO_Synonym__c":"Broad nose; Increased breadth of nose; Increased nasal breadth; Increased nasal width; Increased width of nose; Wide nose","HPO_Name__c":"Wide nose","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:280679","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000343","HPO_Synonym__c":"Elongated philtrum; Increased height of philtrum; Increased length of philtrum; Increased vertical dimension of philtrum; Vertical hyperplasia of philtrum","HPO_Name__c":"Long philtrum","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:280679","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Insufficient responses to growth hormone (GH) provocation tests. GH deficiency is defined as a serum peak GH concentration less than 10 ng/mL on provocation with a combination of at least two separate stimulation tests.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000824","HPO_Name__c":"Decreased response to growth hormone stimulation test","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:280679","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000815","HPO_Synonym__c":"Hypergonadotrophic hypogonadism; Primary hypogonadism","HPO_Name__c":"Hypergonadotropic hypogonadism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:280679","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A noninflammatory, progressive occlusion of the intracranial carotid arteries owing to the formation of netlike collateral arteries arising from the circle of Willis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011834","HPO_Name__c":"Moyamoya phenomenon","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:280679","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001644","HPO_Synonym__c":"Cardiomyopathy, dilated; Congestive cardiomyopathy; DCM; Stretched and thinned heart muscle","HPO_Name__c":"Dilated cardiomyopathy","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:280679","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000454","HPO_Synonym__c":"Flared nasal alae; Flared nostrils","HPO_Name__c":"Flared nostrils","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:280679","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001263","HPO_Synonym__c":"Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; GDD; Lack of psychomotor development; Motor and developmental delay; Motormental retardation; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development","HPO_Name__c":"Global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:280679","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Acute ischemic stroke (AIS) is defined by the sudden loss of blood flow to an area of the brain with the resulting loss of neurologic function. It is caused by thrombosis or embolism that occludes a cerebral vessel supplying a specific area of the brain. During a vessel occlusion, there is a core area where damage to the brain is irreversible and an area of penumbra where the brain has lost function owing to decreased blood flow but is not irreversibly injured.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002140","HPO_Name__c":"Ischemic stroke","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:280679","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced strength of muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001324","HPO_Synonym__c":"Muscle weakness; Muscular weakness","HPO_Name__c":"Muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:280679","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal morphology (form) of the face or its components.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001999","HPO_Synonym__c":"Abnormal facial shape; Abnormal morphology of the face; Distinctive facies; Dysmorphic facial features; Dysmorphic facies; Facial dysmorphism; Unusual facial appearance; Unusual facies","HPO_Name__c":"Abnormal facial shape","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:280679","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An eye that is more deeply recessed into the plane of the face than is typical.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000490","HPO_Synonym__c":"Deep set eye; Deep-set eyes; Deeply set eye; Enophthalmos; Ocular depression; Sunken eye; Sunken eyes","HPO_Name__c":"Deeply set eye","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:280679","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000316","HPO_Synonym__c":"Excessive orbital separation; Increased distance between eye sockets; Increased distance between eyes; Increased interpupillary distance; Ocular hypertelorism; Wide-set eyes; Widely spaced eyes; Widened interpupillary distance","HPO_Name__c":"Hypertelorism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:280679","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000823","HPO_Synonym__c":"Delayed pubertal development; Delayed pubertal growth; Delayed puberty; Pubertal delay","HPO_Name__c":"Delayed puberty","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:280679","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007970","HPO_Synonym__c":"Congenital drooping upper eyelid","HPO_Name__c":"Congenital ptosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:280679","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004302","HPO_Synonym__c":"Functional motor problems","HPO_Name__c":"Functional motor deficit","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:280679","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Absence of any measurable level of sperm,whereby spermatozoa cannot be observed even after centrifugation of the semen pellet.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000027","HPO_Synonym__c":"Absent sperm in semen","HPO_Name__c":"Azoospermia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:280679","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Development of gray hair at a younger than normal age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002216","HPO_Synonym__c":"Early graying; Premature graying; Premature graying of hair; Premature hair graying","HPO_Name__c":"Premature graying of hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:280679","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:280679","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000369","HPO_Synonym__c":"Low set ears; Low-set ears; Low-set pinnae; Lowset ears; Melotia","HPO_Name__c":"Low-set ears","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:280679","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000518","HPO_Synonym__c":"Cataracts; Clouding of the lens of the eye; Cloudy lens; Lens opacities; Lens opacity","HPO_Name__c":"Cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:280679","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hemorrhage into the parenchyma of the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001342","HPO_Synonym__c":"Bleeding in brain; Intracerebral hemorrhage","HPO_Name__c":"Cerebral hemorrhage","Feature_System__c":"Nervous System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:280679","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000707","HPO_Synonym__c":"Abnormality of the nervous system; Neurologic abnormalities; Neurological abnormality","HPO_Name__c":"Abnormality of the nervous system","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:280679","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of chronic increased pressure in the systemic arterial system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000822","HPO_Synonym__c":"Arterial hypertension; Systemic hypertension","HPO_Name__c":"Hypertension","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:280679","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality in which the mandible is mislocalised posteriorly.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000278","HPO_Synonym__c":"Lower jaw retrognathia; Lower jaw retrusion; Mandibular retrognathia; Mandibular retrusion; Receding chin; Receding lower jaw; Receding mandible; Retrognathia of lower jaw; Retrusion of lower jaw; Weak chin; Weak jaw","HPO_Name__c":"Retrognathia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:280679","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced volume of the testicle (the male gonad).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008734","HPO_Synonym__c":"Decreased testicular size; Decreased testicular volume; Hypoplastic testes; Reduced testicular volume; Small testes; Small testis; Testicular hypoplasia","HPO_Name__c":"Decreased testicular size","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:280679","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries, which increases the risk of myocardial ischemia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001677","HPO_Synonym__c":"Coronary atherosclerosis; Coronary disease; Plaque build-up in arteries supplying blood to heart","HPO_Name__c":"Coronary artery atherosclerosis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Endocrine","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Endocrine","Urologist","Vascular Neurology","Vascular Medicine","Neurodevelopmental disabilities","Pediatrics"],"Account":["Infertility"]},"synonyms":["chromosome xq28 deletion syndrome, 3.4-kb"," moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism"," moyamoya disease 4, x-linked recessive"," moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism"," syndromic moyamoya disease"]}