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Items: 13

1.

PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS

MedGen UID:
864577
Concept ID:
C4016140
Finding
2.

MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC

MedGen UID:
864576
Concept ID:
C4016139
Finding
3.

RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE

MedGen UID:
864405
Concept ID:
C4015968
Finding
4.

Pseudohypoparathyroidism type I A

A rare, autosomal dominant syndrome caused by mutations in the GNAS gene. It is characterized by the presence of short stature, obesity, round face, brachydactyly, subcutaneous ossifications, and pseudohypoparathtyroidism. [from NCI]

MedGen UID:
488447
Concept ID:
C3494506
Disease or Syndrome
5.

Pseudohypoparathyroidism type 1C

MedGen UID:
420958
Concept ID:
C2932716
Disease or Syndrome
6.

Polyostotic fibrous dysplasia, somatic, mosaic

MedGen UID:
393373
Concept ID:
C2675383
Finding
7.

PITUITARY ADENOMA, ACTH-SECRETING, SOMATIC

MedGen UID:
382588
Concept ID:
C2675382
Finding
8.

SEX CORD STROMAL TUMOR, SOMATIC

MedGen UID:
370742
Concept ID:
C1969761
Finding
9.

PITUITARY TUMOR, GROWTH HORMONE-SECRETING, SOMATIC

MedGen UID:
370741
Concept ID:
C1969760
Finding
10.

Pseudohypoparathyroidism type 1B

Pseudohypoparathyroidism refers to a heterogeneous group of disorders characterized by resistance to parathyroid hormone (PTH; 168450). Pseudohypoparathyroidism type Ib is characterized clinically by isolated renal PTH resistance manifest as hypocalcemia, hyperphosphatemia, and increased serum PTH. Biochemical studies show a decreased response of urinary cAMP to exogenous PTH, but normal Gs activity in erythrocytes because the defect is restricted to renal tubule cells. In contrast to the findings in PHP Ia, patients with PHP Ib usually lack the physical characteristics of Albright hereditary osteodystrophy (AHO) and typically show no other endocrine abnormalities, although resistance to thyroid-stimulating hormone (TSH; 188540) has been reported in PHP Ib (Levine et al., 1983, Heinsimer et al., 1984). However, patients with PHP Ib may rarely show some features of AHO (Mariot et al., 2008). For a general phenotypic description, classification, and a discussion of molecular genetics of pseudohypoparathyroidism, see PHP1A (103580). [from OMIM]

MedGen UID:
350343
Concept ID:
C1864100
Disease or Syndrome
11.

ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, SOMATIC

MedGen UID:
333902
Concept ID:
C1841739
Finding
12.

Progressive osseous heteroplasia

Progressive osseous heteroplasia is a rare autosomal dominant disorder characterized by dermal ossification beginning in infancy, followed by increasing and extensive bone formation in deep muscle and fascia (Kaplan et al., 1994). The molecular defect causing POH is the same as that causing PPHP: an inactivating GNAS mutation caused only by paternal inheritance of the mutant allele. However, patients with PPHP have a constellation of physical findings referred to as Albright hereditary osteodystrophy (AHO; see 103580) that is often not seen in patients with POH. Bastepe and Juppner (2005) suggested that POH may be an extreme end of the spectrum of the AHO features seen in PPHP. [from OMIM]

MedGen UID:
137714
Concept ID:
C0334041
Neoplastic Process
13.

Pseudopseudohypoparathyroidism

Patients with pseudopseudohypoparathyroidism do not show resistance to parathyroid hormone (PTH; 168450) or other hormones, as is the case with PHP1A (103580), but do manifest the constellation of clinical features referred to as Albright hereditary osteodystrophy (AHO), which includes short stature, obesity, round facies, subcutaneous ossifications, brachydactyly, and other skeletal anomalies. Some patients have mental retardation (Kinard et al., 1979; Fitch, 1982; Mantovani and Spada, 2006). PPHP occurs only after paternal inheritance of the molecular defect, whereas PHP1A occurs only after maternal inheritance of the molecular defect (see Inheritance and Pathogenesis below). This is an example of imprinting, with differential gene expression depending on the parent of origin of the allele (Davies and Hughes, 1993; Wilson et al., 1994). For a general phenotypic description, classification, and a discussion of molecular genetics of pseudohypoparathyroidism, see PHP1A (103580). [from OMIM]

MedGen UID:
10995
Concept ID:
C0033835
Disease or Syndrome
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