Pseudohypoparathyroidism type 1A

Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term).



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Narrow down the case reports



Total: 6 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(51.9%)		 27467896
(5198002)
 Pseudohypoparathyroidism Type 1A-Subclinical Hypothyroidism and Rapid Weight Gain as Early Clinical Signs: A Clinical Review of 10 Cases.
Kayemba-Kay's S, Tripon C, Heron A, Hindmarsh P.
J Clin Res Pediatr Endocrinol. 2016;8(4):432-438.
Round face Brachydactyly
GNAS PTH
c|DEL|585|GACT
Brachydactyly Child Child, Preschool Chromogranins Dwarfism Erythrocytes Females GTP-Binding Protein alpha Subunits, Gs Homo sapiens Hypothyroidism Infant Intellectual Disability Male Mutation Obesity Pseudohypoparathyroidism Retrospective Studies Seizures Sensitivity and Specificity Weight Gain
2
(35.3%)		 21274345
(3005667)
 Long-term follow-up of a pseudohypoparathyroidism type 1A patient with missense mutation (Pro115Ser) in exon 5.
Savas Erdeve , Berberoglu M, klar Z, Evliyaoglu O, Hiort O, Ocal G.
J Clin Res Pediatr Endocrinol. 2010;2(2):85-8.
Brachydactyly
GNAS PTH
p|SUB|P|115|S
Child Chromogranins Exons Females Follow-Up Studies GTP-Binding Protein alpha Subunits, Gs Homo sapiens Male Missense Mutation Pseudohypoparathyroidism Time Factors Vitamins
3
(4.0%)		 30729047
 Unrecognized Pseudohypoparathyroidism Type 1A as a Cause of Hypocalcemia and Seizures in a 64-Year-Old Woman.
Del Monte P, Cuttica CM, Marugo A, Foppiani L, Audenino D, Godowicz TT, Elli FM, Mantovani G, Di Maria E.
Case Rep Endocrinol. 2019;2019:8456239.
Hypothyroidism
GNAS
c|DEL|568_571|
3
(4.0%)		 30060753
(6065144)
 Identification of a novel GNAS mutation in a case of pseudohypoparathyroidism type 1A with normocalcemia.
Long XD, Xiong J, Mo ZH, Dong CS, Jin P.
BMC Med Genet. 2018;19(1):132.
Hypothyroidism
GNAS PTH
c|SUB|A|715|G p|SUB|N|239|D
Alleles Chromogranins Exons Females GTP-Binding Protein alpha Subunits, Gs Heterozygote Homo sapiens Male Mutation Pseudohypoparathyroidism
3
(4.0%)		 26160055
 Clinical insights by the presence of bipolar disorder in pseudohypoparathyroidism type 1A.
Kadilli I, Colicchio S, Guglielmo R, Vollono C, Della Marca G, Janiri L.
Gen Hosp Psychiatry. 2015;37(5):497.e3-5.
Hypocalcemia
Adult Bipolar Disorder Comorbidity Females Homo sapiens Pseudohypoparathyroidism Vitamin D Deficiency
3
(4.0%)		 19364695
 Pseudohypoparathyroidism type 1A and morbid obesity in infancy.
Dekelbab BH, Aughton DJ, Levine MA.
Endocr Pract. 2009;15(3):249-53.
Hypothyroidism
GNAS PTH
Child Development Chromogranins Females GTP-Binding Protein alpha Subunits, Gs Homo sapiens Infant Pseudohypoparathyroidism
        

Phenotype(s) retrieved from Orphanet

    Total: 68

HPO ID Term Frequency
HP:0000852 Pseudohypoparathyroidism Obligate (100%)
HP:0000311 Round face Very frequent (99-80%)
HP:0002901 Hypocalcemia Very frequent (99-80%)
HP:0002905 Hyperphosphatemia Very frequent (99-80%)
HP:0003165 Elevated circulating parathyroid hormone level Very frequent (99-80%)
HP:0003456 Low urinary cyclic AMP response to PTH administration Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0008227 Pituitary resistance to thyroid hormone Very frequent (99-80%)
HP:0000293 Full cheeks Frequent (79-30%)
HP:0000470 Short neck Frequent (79-30%)
HP:0000518 Cataract Frequent (79-30%)
HP:0000639 Nystagmus Frequent (79-30%)
HP:0000684 Delayed eruption of teeth Frequent (79-30%)
HP:0000824 Growth hormone deficiency Frequent (79-30%)
HP:0001156 Brachydactyly Frequent (79-30%)
HP:0001249 Intellectual disability Frequent (79-30%)
HP:0001513 Obesity Frequent (79-30%)
HP:0002135 Basal ganglia calcification Frequent (79-30%)
HP:0002591 Polyphagia Frequent (79-30%)
HP:0002684 Thickened calvaria Frequent (79-30%)
HP:0004704 Short fifth metatarsal Frequent (79-30%)
HP:0005280 Depressed nasal bridge Frequent (79-30%)
HP:0006297 Hypoplasia of dental enamel Frequent (79-30%)
HP:0006960 Choroid plexus calcification Frequent (79-30%)
HP:0010027 Broad 1st metacarpal Frequent (79-30%)
HP:0010044 Short 4th metacarpal Frequent (79-30%)
HP:0010047 Short 5th metacarpal Frequent (79-30%)
HP:0010049 Short metacarpal Frequent (79-30%)
HP:0010743 Short metatarsal Frequent (79-30%)
HP:0011001 Increased bone mineral density Frequent (79-30%)
HP:0011986 Ectopic ossification Frequent (79-30%)
HP:0012185 Constrictive median neuropathy Frequent (79-30%)
HP:0000407 Sensorineural hearing impairment Occasional (29-5%)
HP:0000486 Strabismus Occasional (29-5%)
HP:0000509 Conjunctivitis Occasional (29-5%)
HP:0000585 Band keratopathy Occasional (29-5%)
HP:0000716 Depressivity Occasional (29-5%)
HP:0000737 Irritability Occasional (29-5%)
HP:0000739 Anxiety Occasional (29-5%)
HP:0000815 Hypergonadotropic hypogonadism Occasional (29-5%)
HP:0000822 Hypertension Occasional (29-5%)
HP:0000876 Oligomenorrhea Occasional (29-5%)
HP:0001265 Hyporeflexia Occasional (29-5%)
HP:0001266 Choreoathetosis Occasional (29-5%)
HP:0001289 Confusion Occasional (29-5%)
HP:0001657 Prolonged QT interval Occasional (29-5%)
HP:0002094 Dyspnea Occasional (29-5%)
HP:0002176 Spinal cord compression Occasional (29-5%)
HP:0002514 Cerebral calcification Occasional (29-5%)
HP:0003394 Muscle spasm Occasional (29-5%)
HP:0003401 Paresthesia Occasional (29-5%)
HP:0003472 Hypocalcemic tetany Occasional (29-5%)
HP:0003739 Myoclonic spasms Occasional (29-5%)
HP:0003761 Calcinosis Occasional (29-5%)
HP:0004305 Involuntary movements Occasional (29-5%)
HP:0004349 Reduced bone mineral density Occasional (29-5%)
HP:0004438 Hyperostosis frontalis interna Occasional (29-5%)
HP:0009642 Broad distal phalanx of the thumb Occasional (29-5%)
HP:0010041 Short 3rd metacarpal Occasional (29-5%)
HP:0011458 Abdominal symptom Occasional (29-5%)
HP:0011869 Abnormal platelet function Occasional (29-5%)
HP:0012049 Laryngeal dystonia Occasional (29-5%)
HP:0025027 Osteoma cutis Occasional (29-5%)
HP:0100749 Chest pain Occasional (29-5%)
HP:0002199 Hypocalcemic seizures Very rare (4-1%)
HP:0003528 Elevated calcitonin Very rare (4-1%)
HP:0008202 Prolactin deficiency Very rare (4-1%)
HP:0030057 Autoimmune antibody positivity Excluded (0%)


Phenotype(s) retrieved from case reports

    Total: 4

HPO ID Term # of case reports
HP:0000821 Hypothyroidism 1
HP:0001250 Seizures 1
HP:0001513 Obesity 1
HP:0002901 Hypocalcemia 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
GNAS GNAS complex locus 2778