MCID: PSD104
MIFTS: 33

Pseudohypoparathyroidism, Type Ii

Categories: Rare diseases, Nephrological diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Eye diseases, Bone diseases, Skin diseases, Metabolic diseases

Aliases & Classifications for Pseudohypoparathyroidism, Type Ii

MalaCards integrated aliases for Pseudohypoparathyroidism, Type Ii:

Name: Pseudohypoparathyroidism, Type Ii 57 55
Pseudohypoparathyroidism Type 2 53 59 73
Php Ii 57 53
Php2 57 53

Characteristics:

Orphanet epidemiological data:

59
pseudohypoparathyroidism type 2
Inheritance: Not applicable; Age of onset: All ages; Age of death: any age;

OMIM:

57
Inheritance:
isolated cases


HPO:

32
pseudohypoparathyroidism, type ii:
Inheritance sporadic


Classifications:



External Ids:

OMIM 57 203330
Orphanet 59 ORPHA94090
ICD10 via Orphanet 34 E20.1
MESH via Orphanet 45 C548077
UMLS via Orphanet 74 C0271870 C2932717
MedGen 42 C2932717
UMLS 73 C2932717

Summaries for Pseudohypoparathyroidism, Type Ii

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 94090Disease definitionPseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy (AHO; see this term), and normal expression of the Gs protein with a normal urinary cAMP response.EpidemiologyThe prevalence is unknown.Clinical descriptionThe clinical manifestations of PHP-2 have been poorly characterized but are similar to those seen in pseudohypoparathyroidism type1b (PHP-1b; see this term). Patients present with symptoms related to low levels of calcium including: seizures, tetany (including muscle twitches and hand and foot spasms), numbness cataracts, and dental problems. Unlike PHP-1b, those with PHP-2 demonstrate a normal urinary cAMP response.EtiologyTo date, no specific genetic alteration responsible for this disorder has been detected. It has been hypothesized that in most cases it may be an acquired defect secondary to vitamin D deficiency such as in misdiagnosed secondary renal hyperparathyroidism.Visit the Orphanet disease page for more resources.

MalaCards based summary : Pseudohypoparathyroidism, Type Ii, also known as pseudohypoparathyroidism type 2, is related to pseudohypoparathyroidism and rickets. An important gene associated with Pseudohypoparathyroidism, Type Ii is ADCY10 (Adenylate Cyclase 10), and among its related pathways/superpathways are Sweet Taste Signaling and Purine metabolism (KEGG). Affiliated tissues include thyroid, and related phenotypes are prolonged qt interval and paresthesia

OMIM : 57 Pseudohypoparathyroidism (PHP) is a term applied to a heterogeneous group of disorders whose common feature is resistance to parathyroid hormone (PTH; 168450). PHP type II is characterized by a normal cAMP response to PTH infusion, but a deficient phosphaturic response, indicating a defect distal to cAMP generation in renal cells. The clinical features of Albright hereditary osteodystrophy (AHO; see 103580) are not present in PHP II (Mantovani and Spada, 2006). For a general phenotypic description, classification, and a discussion of molecular genetics of pseudohypoparathyroidism, see PHP1A (103580). (203330)

Related Diseases for Pseudohypoparathyroidism, Type Ii

Diseases in the Pseudohypoparathyroidism family:

Pseudohypoparathyroidism, Type Ia Pseudohypoparathyroidism, Type Ii
Pseudohypoparathyroidism, Type Ib Pseudohypoparathyroidism, Type Ic

Diseases related to Pseudohypoparathyroidism, Type Ii via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 pseudohypoparathyroidism 10.3
2 rickets 10.0
3 pseudopseudohypoparathyroidism 9.7
4 basal ganglia calcification 9.7
5 thyroiditis 9.7

Graphical network of the top 20 diseases related to Pseudohypoparathyroidism, Type Ii:



Diseases related to Pseudohypoparathyroidism, Type Ii

Symptoms & Phenotypes for Pseudohypoparathyroidism, Type Ii

Symptoms via clinical synopsis from OMIM:

57
Laboratory Abnormalities:
hypocalcemia
hyperphosphatemia
elevated serum parathyroid hormone (pth) level
normal or increased urinary cyclic amp response to pth administration

Endocrine Features:
pseudohypoparathyroidism


Clinical features from OMIM:

203330

Human phenotypes related to Pseudohypoparathyroidism, Type Ii:

59 32 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 prolonged qt interval 59 32 occasional (7.5%) Occasional (29-5%) HP:0001657
2 paresthesia 59 32 occasional (7.5%) Occasional (29-5%) HP:0003401
3 muscle cramps 59 32 occasional (7.5%) Occasional (29-5%) HP:0003394
4 hypocalcemia 59 32 Very frequent (99-80%) HP:0002901
5 elevated circulating parathyroid hormone level 59 32 hallmark (90%) Very frequent (99-80%) HP:0003165
6 pseudohypoparathyroidism 59 32 obligate (100%) Obligate (100%) HP:0000852
7 hyperphosphatemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002905
8 hypocalcemic seizures 59 32 frequent (33%) Frequent (79-30%) HP:0002199
9 abdominal symptom 59 32 occasional (7.5%) Occasional (29-5%) HP:0011458
10 laryngeal dystonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0012049
11 hypocalcemic tetany 59 32 occasional (7.5%) Occasional (29-5%) HP:0003472
12 myoclonic spasms 59 32 occasional (7.5%) Occasional (29-5%) HP:0003739
13 autoimmune antibody positivity 59 Excluded (0%)
14 ectopic calcification 59 Excluded (0%)
15 low urinary cyclic amp response to pth administration 59 Excluded (0%)
16 calcinosis 59 Excluded (0%)

GenomeRNAi Phenotypes related to Pseudohypoparathyroidism, Type Ii according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance GR00297-A 8.62 ADCY10 PDE3B

Drugs & Therapeutics for Pseudohypoparathyroidism, Type Ii

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Correlation Between Visual Field Defects on Foresee Preferential Hyperacuity Perimeter(PHP) and on Optical Coherence Tomography (OCT) in Patients With Choroidal Neovascularization (CNV) Completed NCT00692887
2 Effect of Breathing Circuits on Intraoperative Body Temperature Completed NCT01831843 Not Applicable

Search NIH Clinical Center for Pseudohypoparathyroidism, Type Ii

Genetic Tests for Pseudohypoparathyroidism, Type Ii

Anatomical Context for Pseudohypoparathyroidism, Type Ii

MalaCards organs/tissues related to Pseudohypoparathyroidism, Type Ii:

41
Thyroid

Publications for Pseudohypoparathyroidism, Type Ii

Articles related to Pseudohypoparathyroidism, Type Ii:

(show all 14)
# Title Authors Year
1
Pseudohypoparathyroidism type II in a woman with a history of thyroid surgery. ( 24694489 )
2014
2
Limited availability of nutritional vitamin D causing inappropriate treatment of vitamin D deficiency rickets with a response resembling pseudohypoparathyroidism type II in a Japanese patient. ( 16370566 )
2005
3
Vitamin D deficiency masquerading as pseudohypoparathyroidism type 2. ( 15266936 )
2003
4
Stage I vitamin D-deficiency rickets mimicking pseudohypoparathyroidism type II. ( 12041724 )
2002
5
Increased urinary phosphate excretion in pseudohypoparathyroidism type II with long-term treatment with phosphodiesterase inhibitor. ( 10598827 )
1999
6
Subclinical pseudohypoparathyroidism type II: evidence for failure of physiologic adjustment in calcium metabolism during pregnancy. ( 2539718 )
1989
7
Latent pseudohypoparathyroidism type II: risk of insufficiency of calcium metabolism during pregnancy. ( 2850988 )
1988
8
Dissociation between the effects of endogenous parathyroid hormone on adenosine 3',5'-monophosphate generation and phosphate reabsorption in hypocalcemia due to vitamin D depletion: an acquired disorder resembling pseudohypoparathyroidism type II. ( 2989317 )
1985
9
Possible existence of anti-renal tubular plasma membrane autoantibody which blocked parathyroid hormone-induced phosphaturia in a patient with pseudohypoparathyroidism type II and SjAPgren's syndrome. ( 6319447 )
1984
10
Normocalcemic pseudohypoparathyroidism (Type II). ( 6281182 )
1981
11
Basal ganglia calcification in pseudohypoparathyroidism type II. ( 7307284 )
1981
12
Pseudohypoparathyroidism type II and anticonvulsant rickets. ( 230052 )
1979
13
Transient congenital pseudohypoparathyroidism type II. ( 216850 )
1978
14
Pseudohypoparathyroidism type II: restoration of normal renal responsiveness to parathyroid hormone by calcium administration. ( 4370302 )
1974

Variations for Pseudohypoparathyroidism, Type Ii

Expression for Pseudohypoparathyroidism, Type Ii

Search GEO for disease gene expression data for Pseudohypoparathyroidism, Type Ii.

Pathways for Pseudohypoparathyroidism, Type Ii

Pathways related to Pseudohypoparathyroidism, Type Ii according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.14 ADCY10 PDE3B
2
Show member pathways
11.72 ADCY10 PDE3B
3
Show member pathways
11.26 ADCY10 PDE3B
4 10.76 ADCY10 PDE3B

GO Terms for Pseudohypoparathyroidism, Type Ii

Sources for Pseudohypoparathyroidism, Type Ii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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