{"Name":"Pseudopseudohypoparathyroidism","DiseaseID__c":"GARD:0007860","id":7860,"encodedName":"pseudopseudohypoparathyroidism","IsDeleted":false,"Disease_Name_Full__c":"Pseudopseudohypoparathyroidism","Xref_IDs__c":"237659007; C0033835; C129722; D011556; DOID:4183; MEDGEN:10995; MONDO:0012912; OMIM:612463; ORPHA:79445","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0012912","Disease_Description__c":"Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term).","GARD_Name__c":"Pseudopseudohypoparathyroidism","GARD_Synonym__c":"aho-pphp syndrome; albright hereditary osteodystrophy with multiple hormone resistance; albright hereditary osteodystrophy without multiple hormone resistance; albright hereditary osteodystrophy-pphp syndrome; normocalcemic pseudohypoparathyroidism; normocalcemic pseudohypoparathyroidism (disorder) [ambiguous]; pphp","Curated_Disease_Description_Source__c":"GARD:0007860","Curated_Disease_Description__c":"Pseudopseudohypoparathyroidism (PPHP) is an inherited condition that causes short stature, round face, and short hand bones. PPHP causes joints and other soft tissues in the body to harden. It also affects how bones are formed. As a result, PPHP can cause bone, joint, and nerve damage, and this damage can cause lasting pain. Some people with PPHP (10%) also have learning disability. PHPP is caused by genetic changes in the GNAS gene and is inherited in an autosomal dominant fashion. This condition is usually inherited from the father (genomic imprinting). PPHP is genetically related to pseudohypoparathyroidism type Ia (PHP-1a). Signs and symptoms are similar, however people with PPHP do not show resistance to parathyroid hormone while people with PHP-1a do. Obesity is characteristic for PHP-1a and may be severe, while obesity is less prominent and may be absent among people with PPHP. Both PHP-1a and PPHP are caused by genetic changes that affect the function of the GNAS gene. But people who inherit the genetic change from their mother develop PHP-1a; whereas those who inherit the genetic change from their father develop PPHP.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:79445","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012912","ORPHANET_ID__c":"ORPHA:79445","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Pseudopseudohipoparatiroidismo","Spanish_Description_Source__c":"ORPHA:79445","Spanish_Description__c":"El pseudopseudohipoparatiroidismo (pseudo-PHP) es una enfermedad caracterizada por una constelación de características clínicas denominadas colectivamente osteodistrofia hereditaria de Albright (OHA, consulte este término) pero sin evidencias de la resistencia a la hormona paratiroidea (PTH) que se observa en otras formas de pseudohipoparatiroidismo (PHP; ver este término).","Spanish_Disease_Name__c":"pseudopseudohipoparatiroidismo","Spanish_GARD_Synonym__c":"síndrome aho-pphp; síndrome de osteodistrofia hereditaria de albright-pphp","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":"Pseudopseudohypoparathyroidism (PPHP) is an inherited condition that causes short stature, round face, and short hand bones. PPHP causes joints and other soft tissues in the body to harden. It also affects how bones are formed. As a result, PPHP can cause bone, joint, and nerve damage, and this damage can cause lasting pain. Some people with PPHP (10%) also have learning disability. PHPP is caused by genetic changes in the GNAS gene and is inherited in an autosomal dominant fashion. This condition is usually inherited from the father (genomic imprinting). PPHP is genetically related to pseudohypoparathyroidism type Ia (PHP-1a). Signs and symptoms are similar, however people with PPHP do not show resistance to parathyroid hormone while people with PHP-1a do. Obesity is characteristic for PHP-1a and may be severe, while obesity is less prominent and may be absent among people with PPHP. Both PHP-1a and PPHP are caused by genetic changes that affect the function of the GNAS gene. But people who inherit the genetic change from their mother develop PHP-1a; whereas those who inherit the genetic change from their father develop PPHP.","Curated_Disease_Description_Source__c":"GARD:0007860","GARD_Synonym__c":"aho-pphp syndrome; albright hereditary osteodystrophy with multiple hormone resistance; albright hereditary osteodystrophy without multiple hormone resistance; albright hereditary osteodystrophy-pphp syndrome; normocalcemic pseudohypoparathyroidism; normocalcemic pseudohypoparathyroidism (disorder) [ambiguous]; pphp","Name":"Pseudopseudohypoparathyroidism","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"HypoPARAthyroidism Association, Inc.","Website__c":"https://hypopara.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":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Nephrology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Kidney diseases affect the kidneys' ability to remove waste and water from blood, create urine, or make certain hormones.","curated_tag_name":"Kidney 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":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin 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":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Anterior segment of Eye","Tag_Category__c":"Specialist","curated_tag_name":"Front part of eye disease"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:79445"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0007860","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK459117","Source__c":"Gene Review","Xref__c":"NBK459117"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=10995","Source__c":"C0033835","Xref__c":"MEDGEN:10995"},{"URL__c":"https://www.orpha.net/en/disease/detail/79445","Source__c":"C0033835; MONDO:0012912; ORPHA:79445","Xref__c":"ORPHA:79445"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C129722","Source__c":"C0033835; MONDO:0012912","Xref__c":"C129722"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C011556","Source__c":"C0033835; MONDO:0012912","Xref__c":"D011556"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A4183","Source__c":"MONDO:0012912","Xref__c":"DOID:4183"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=237659007","Source__c":"C0033835; MONDO:0012912","Xref__c":"237659007"},{"URL__c":"https://www.omim.org/entry/612463","Source__c":"C0033835; MONDO:0012912; ORPHA:79445","Xref__c":"OMIM:612463"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0033835","Source__c":"C0033835","Xref__c":"C0033835"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012912","Source__c":"GARD:0007860","Xref__c":"MONDO:0012912"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GNAS","GHR_URL__c":"https://medlineplus.gov/genetics/gene/gnas","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:79445","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"An abnormal increased concentration of parathyroid hormone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003165","HPO_Synonym__c":"Elevated circulating PTH level; Elevated serum parathyroid hormone; Elevated serum parathyroid hormone level; Elevated serum pth; Increased serum parathyroid hormone","HPO_Name__c":"Elevated circulating parathyroid hormone level","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79445","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The term osteoma refers to the anomalous presence of ossification (bone formation) in the interior of the dermis or epidermis. The dermal or subcutaneous bone formation presents as stony hard nodules. The osteomata appear as irregular, hardened small nodules that are well circumscribed and generally of the same color as the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025027","HPO_Synonym__c":"Cutaneous osteosis; Miliary osteoma; Osteomatosis","HPO_Name__c":"Osteoma cutis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79445","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001511","HPO_Synonym__c":"Fetal growth restriction; FGR; In utero growth retardation; Intrauterine growth failure; Intrauterine growth restriction; Intrauterine growth retardation, IUGR; Intrauterine retardation; IUGR; Prenatal growth deficiency; Prenatal growth failure; Prenatal growth retardation; Prenatal onset growth retardation; Prenatal-onset growth retardation; Small for gestational age infant","HPO_Name__c":"Intrauterine growth retardation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79445","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001156","HPO_Synonym__c":"Brachydactyly syndrome; Short fingers or toes","HPO_Name__c":"Brachydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79445","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:79445","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79445","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The facial appearance is more circular than usual as viewed from the front.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000311","HPO_Synonym__c":"Circular face; Round face; Round facial appearance; Round facial shape; Round facies","HPO_Name__c":"Round face","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79445","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hypoplasia (congenital reduction in size) of the fifth finger, also known as the little finger.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009237","HPO_Synonym__c":"Fifth finger brachydactyly; Hypoplastic phalanges of the little finger; Hypoplastic/small 5th finger; Hypoplastic/small little finger; Short 5th finger; Short fifth finger; Short fifth fingers; Short little finger; Short phalanges of the little finger; Short pinkie finger; Short pinky finger","HPO_Name__c":"Short 5th finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79445","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Accumulation of substantial excess body fat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001513","HPO_Synonym__c":"Having too much body fat; Obesity","HPO_Name__c":"Obesity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79445","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Short fifth metacarpal bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010047","HPO_Synonym__c":"Fifth metacarpal hypoplasia; Hypoplastic 5th metacarpal; Short fifth metacarpal; Short fifth metacarpals; Shortened 5th long bone of hand","HPO_Name__c":"Short 5th metacarpal","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79445","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hypoplasia (congenital reduction in size) of the distal phalanx of the third finger.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004180","HPO_Synonym__c":"Hypoplastic/small distal phalanx of the 3rd finger; Short distal phalanx of the third finger; Short outermost bone of the middle finger; Short terminal phalanx of middle finger","HPO_Name__c":"Short distal phalanx of the 3rd finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79445","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010743","HPO_Synonym__c":"Hypoplasia of the metatarsal bones; Hypoplastic metatarsals; Short long bone of foot; Short metatarsal bone; Short metatarsals; Shortened metatarsals","HPO_Name__c":"Short metatarsal","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79445","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"An abnormally increased phosphate concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002905","HPO_Synonym__c":"High blood phosphate levels","HPO_Name__c":"Hyperphosphatemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79445","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A degree of language development that is significantly below the norm for a child of a specified age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000750","HPO_Synonym__c":"Deficiency of speech development; Delayed language development; Delayed speech; Delayed speech acquisition; Delayed speech and language development; Delayed speech development; Impaired speech and language development; Impaired speech development; Language delay; Language delayed; Language development deficit; Late-onset speech development; Poor language development; Speech and language delay; Speech and language difficulties; Speech delay","HPO_Name__c":"Delayed speech and language development","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79445","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Short fourth metacarpal bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010044","HPO_Synonym__c":"Hypoplastic fourth metacarpal; Short 4th metacarpals; Short fourth metacarpals; Shortened 4th long bone of hand","HPO_Name__c":"Short 4th metacarpal","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79445","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hypoplastic (short) distal phalanx of the thumb.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009650","HPO_Synonym__c":"Hypoplastic terminal thumb phalanx; Hypoplastic/small distal phalanx of the thumb; Short outermost bone of the thumb; Short terminal thumb phalanx; Short thumb terminal phalanx; Small terminal thumb phalanx","HPO_Name__c":"Short distal phalanx of the thumb","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79445","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Formation of abnormal, extraskeletal bony tissue, i.e., the presence of bone in soft tissue where bone normally does not exist.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011986","HPO_Synonym__c":"Ectopic bone formation; Heterotopic ossification","HPO_Name__c":"Ectopic ossification","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79445","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"An abnormally decreased calcium concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002901","HPO_Synonym__c":"Hypocalcaemia; Low blood calcium levels","HPO_Name__c":"Hypocalcemia","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Nephrology","Endocrine","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Nephrology","Endocrine","Dermatology","Orthopedics","Anterior segment of Eye","Pediatrics"],"Account":["Nephrology","Dermatology"]},"synonyms":["aho-pphp syndrome"," albright hereditary osteodystrophy with multiple hormone resistance"," albright hereditary osteodystrophy without multiple hormone resistance"," albright hereditary osteodystrophy-pphp syndrome"," normocalcemic pseudohypoparathyroidism"," normocalcemic pseudohypoparathyroidism (disorder) [ambiguous]"," pphp"]}