PHP2
MCID: PSD104
MIFTS: 31

Pseudohypoparathyroidism, Type Ii (PHP2)

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

Aliases & Classifications for Pseudohypoparathyroidism, Type Ii

MalaCards integrated aliases for Pseudohypoparathyroidism, Type Ii:

Name: Pseudohypoparathyroidism, Type Ii 56 54
Pseudohypoparathyroidism Type 2 52 58 71
Php Ii 56 52
Php2 56 52

Characteristics:

Orphanet epidemiological data:

58
pseudohypoparathyroidism type 2
Inheritance: Not applicable; Age of onset: All ages; Age of death: any age;

OMIM:

56
Inheritance:
isolated cases


HPO:

31
pseudohypoparathyroidism, type ii:
Inheritance sporadic


Classifications:

Orphanet: 58  
Rare renal diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 203330
MESH via Orphanet 44 C548077
ICD10 via Orphanet 33 E20.1
UMLS via Orphanet 72 C0271870 C2932717
Orphanet 58 ORPHA94090
MedGen 41 C2932717
UMLS 71 C2932717

Summaries for Pseudohypoparathyroidism, Type Ii

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 94090 Definition Pseudohypoparathyroidism 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. Epidemiology The prevalence is unknown. Clinical description The 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. Etiology To 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 Metabolism of nucleotides. Affiliated tissues include bone, thyroid and testes, and related phenotypes are pseudohypoparathyroidism and hyperphosphatemia

OMIM : 56 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:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 pseudohypoparathyroidism 10.5
2 rickets 10.1
3 secondary hyperparathyroidism 10.1
4 hyperparathyroidism 10.1
5 pseudohypoparathyroidism, type ia 9.9
6 hyperphosphatemia 9.9
7 basal ganglia calcification 9.9
8 osteomalacia 9.9
9 hypoparathyroidism 9.9
10 primary hyperparathyroidism 9.9
11 graves' disease 9.9
12 hypothyroidism 9.9
13 pelizaeus-merzbacher disease 9.4 PDE3B ADCY10
14 diabetes mellitus, noninsulin-dependent 9.2 PDE3B ADCY10

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



Diseases related to Pseudohypoparathyroidism, Type Ii

Symptoms & Phenotypes for Pseudohypoparathyroidism, Type Ii

Human phenotypes related to Pseudohypoparathyroidism, Type Ii:

58 31 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pseudohypoparathyroidism 58 31 obligate (100%) Obligate (100%) HP:0000852
2 hyperphosphatemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002905
3 elevated circulating parathyroid hormone level 58 31 hallmark (90%) Very frequent (99-80%) HP:0003165
4 hypocalcemic seizures 58 31 frequent (33%) Frequent (79-30%) HP:0002199
5 prolonged qt interval 58 31 occasional (7.5%) Occasional (29-5%) HP:0001657
6 paresthesia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003401
7 muscle spasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0003394
8 hypocalcemic tetany 58 31 occasional (7.5%) Occasional (29-5%) HP:0003472
9 myoclonic spasms 58 31 occasional (7.5%) Occasional (29-5%) HP:0003739
10 abdominal symptom 58 31 occasional (7.5%) Occasional (29-5%) HP:0011458
11 laryngeal dystonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0012049
12 hypocalcemia 58 31 Very frequent (99-80%) HP:0002901
13 ectopic calcification 58 Excluded (0%)
14 calcinosis 58 Excluded (0%)
15 low urinary cyclic amp response to pth administration 58 Excluded (0%)
16 autoimmune antibody positivity 58 Excluded (0%)

Symptoms via clinical synopsis from OMIM:

56
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

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

Search Clinical Trials , 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:

40
Bone, Thyroid, Testes

Publications for Pseudohypoparathyroidism, Type Ii

Articles related to Pseudohypoparathyroidism, Type Ii:

(show all 30)
# Title Authors PMID Year
1
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. 61 56
2989317 1985
2
Pseudohypoparathyroidism type II: restoration of normal renal responsiveness to parathyroid hormone by calcium administration. 61 56
4370302 1974
3
Pseudohypoparathyroidism type II: a possible defect in the reception of the cyclic AMP signal. 61 56
4355058 1973
4
Mutations in the Gs alpha gene causing hormone resistance. 56
17161328 2006
5
Pseudohypoparathyroidism: inheritance of deficient receptor-cyclase coupling activity. 56
6265935 1981
6
Pseudohypoparathyroidism type II in a woman with a history of thyroid surgery. 61
24694489 2014
7
[Picture of the month: pseudohypoparathyroidism type II]. 61
21985840 2011
8
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. 61
16370566 2005
9
[Suspected case of pseudohypoparathyroidism type II]. 61
16272636 2005
10
Vitamin D deficiency masquerading as pseudohypoparathyroidism type 2. 61
15266936 2003
11
Stage I vitamin D-deficiency rickets mimicking pseudohypoparathyroidism type II. 61
12041724 2002
12
Increased urinary phosphate excretion in pseudohypoparathyroidism type II with long-term treatment with phosphodiesterase inhibitor. 61
10598827 1999
13
[Pseudohypoparathyroidism and the concept of hormonal resistance. Types Ib and II]. 54
10518973 1999
14
Different subtypes of pseudohypoparathyroidism in the same family with an unusual psychiatric presentation of the index case. 61
8129452 1994
15
Hereditary adrenocortical unresponsiveness to adrenocorticotropin with a postreceptor defect. 61
1320052 1992
16
Endemic skeletal fluorosis in children: hypocalcemia and the presence of renal resistance to parathyroid hormone. 61
2611447 1989
17
Abnormal systemic metabolism of iron, porphyrin, and calcium in Fahr's syndrome. 61
2817830 1989
18
Subclinical pseudohypoparathyroidism type II: evidence for failure of physiologic adjustment in calcium metabolism during pregnancy. 61
2539718 1989
19
Latent pseudohypoparathyroidism type II: risk of insufficiency of calcium metabolism during pregnancy. 61
2850988 1988
20
[A case report of Bartter's syndrome associated with possible pseudohypoparathyroidism type II]. 61
3611913 1987
21
[Standard procedure and the diagnostic criteria for the Ellsworth-Howard test using human PTH-(1-34)]. 61
6096181 1984
22
Possible existence of anti-renal tubular plasma membrane autoantibody which blocked parathyroid hormone-induced phosphaturia in a patient with pseudohypoparathyroidism type II and Sjögren's syndrome. 61
6319447 1984
23
[Case of pseudohypoparathyroidism type II with marked bone deformities and hypothyroidism induced by anticonvulsants]. 61
6663189 1983
24
[Diagnostic criteria for pseudohypoparathyroidism and related diseases]. 61
7173455 1982
25
Normocalcemic pseudohypoparathyroidism (Type II). 61
6281182 1981
26
Basal ganglia calcification in pseudohypoparathyroidism type II. 61
7307284 1981
27
Pseudohypoparathyroidism type II and anticonvulsant rickets. 61
230052 1979
28
Transient congenital pseudohypoparathyroidism type II. 61
216850 1978
29
[Pseudohypohyperparathyroidism or Frame's pseudohypoparathyroidism type II]. 61
1180641 1975
30
Responsiveness of urinary cyclic AMP and phosphate to parathyroid extract in patients with parathyroid disorders. 61
167473 1975

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

GO Terms for Pseudohypoparathyroidism, Type Ii

Sources for Pseudohypoparathyroidism, Type Ii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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