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Descriptor English: Pseudohypoparathyroidism
Descriptor Spanish: Seudohipoparatiroidismo
Descriptor seudohipoparatiroidismo
Entry term(s) SHPIa
osteodistrofia hereditaria de Albright
pseudohipoparatiroidismo
pseudohipoparatiroidismo tipo Ia
seudohipoparatiroidismo de tipo 1B
seudohipoparatiroidismo de tipo 1a
seudohipoparatiroidismo de tipo Ia
seudohipoparatiroidismo de tipo Ib
seudohipoparatiroidismo tipo Ia
Scope note: Síndrome hereditario clínicamente similar al HIPOPARATIROIDISMO. Se caracteriza por HIPOCALCEMIA, HIPERFOSFATEMIA, y alteraciones del desarrollo esquelético causadas por un fallo en la respuesta a la HORMONA PARATIROIDEA más que por déficits. Una forma grave, con resistencia a múltiples hormonas, es la denominada Tipo 1a, que está asociada a un alelo mutante materno de la CADENA ALFA DE LA PROTEÍNA G ESTIMULADORA.
Descriptor Portuguese: Pseudo-Hipoparatireoidismo
Descriptor French: Pseudohypoparathyroïdie
Entry term(s): Albright Hereditary Osteodystrophy
Albright Hereditary Osteodystrophy with Multiple Hormone Resistance
Hereditary Osteodystrophy, Albright
Osteodystrophy, Albright Hereditary
PHD Ib
PHD Ibs
PHD1b
PHP Ia
PHPIa
Pseudohypoparathyroidism Type 1B
Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ib
Pseudohypoparathyroidisms
Pseudohypoparathyroidisms, Type Ia
Pseudohypoparathyroidisms, Type Ib
Type Ia Pseudohypoparathyroidism
Type Ia Pseudohypoparathyroidisms
Type Ib Pseudohypoparathyroidism
Type Ib Pseudohypoparathyroidisms
Tree number(s): C05.116.198.709
C16.320.565.618.815
C18.452.104.709
C18.452.174.766
C18.452.648.618.815
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D011547
Scope note: A hereditary syndrome clinically similar to HYPOPARATHYROIDISM. It is characterized by HYPOCALCEMIA; HYPERPHOSPHATEMIA; and associated skeletal development impairment and caused by failure of response to PARATHYROID HORMONE rather than deficiencies. A severe form with resistance to multiple hormones is referred to as Type 1a and is associated with maternal mutant allele of the ALPHA CHAIN OF STIMULATORY G PROTEIN.
Annotation: do not confuse with PSEUDOPSEUDOHYPOPARATHYROIDISM
Allowable Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology
Public MeSH Note: 65
History Note: 65(63)
Related: GTP-Binding Protein alpha Subunits, Gs MeSH
DeCS ID: 11984
Unique ID: D011547
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 1965/01/01
Date of Entry: 1999/01/01
Revision Date: 2020/05/27
Pseudohypoparathyroidism - Preferred
Concept UI M0017949
Scope note A hereditary syndrome clinically similar to HYPOPARATHYROIDISM. It is characterized by HYPOCALCEMIA; HYPERPHOSPHATEMIA; and associated skeletal development impairment and caused by failure of response to PARATHYROID HORMONE rather than deficiencies. A severe form with resistance to multiple hormones is referred to as Type 1a and is associated with maternal mutant allele of the ALPHA CHAIN OF STIMULATORY G PROTEIN.
Preferred term Pseudohypoparathyroidism
Entry term(s) Pseudohypoparathyroidisms
Pseudohypoparathyroidism, Type Ib - Narrower
Concept UI M0566696
Preferred term Pseudohypoparathyroidism, Type Ib
Entry term(s) PHD Ib
PHD Ibs
PHD1b
Pseudohypoparathyroidism Type 1B
Pseudohypoparathyroidisms, Type Ib
Type Ib Pseudohypoparathyroidism
Type Ib Pseudohypoparathyroidisms
Pseudohypoparathyroidism, Type Ia - Narrower
Concept UI M0570744
Scope note A syndrome characterized by variable features such as short stature, obesity, round face, subcutaneous ossifications, and BRACHYDACTYLY. It is associated with resistance to PARATHYROID HORMONE and THYROTROPIN. The autosomal dominant inherited form (PSEUDOHYPOPARATHYROIDISM, TYPE IA) is caused by mutations in the GNAS gene. OMIM: 103580.
Preferred term Pseudohypoparathyroidism, Type Ia
Entry term(s) Albright Hereditary Osteodystrophy
Albright Hereditary Osteodystrophy with Multiple Hormone Resistance
Hereditary Osteodystrophy, Albright
Osteodystrophy, Albright Hereditary
PHP Ia
PHPIa
Pseudohypoparathyroidisms, Type Ia
Type Ia Pseudohypoparathyroidism
Type Ia Pseudohypoparathyroidisms



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