MCID: HYP693
MIFTS: 23

Hyperparathyroidism, Primary, Caused by Water Clear Cell Hyperplasia

Categories: Endocrine diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Hyperparathyroidism, Primary, Caused by Water Clear Cell...

MalaCards integrated aliases for Hyperparathyroidism, Primary, Caused by Water Clear Cell Hyperplasia:

Name: Hyperparathyroidism, Primary, Caused by Water Clear Cell Hyperplasia 57
Hereditary Parathyroids Hyperplasia 59
Familial Parathyroids Hyperplasia 59
Primary Parathyroid Hyperplasia 59

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
hyperparathyroidism, primary, caused by water clear cell hyperplasia:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare endocrine diseases


External Ids:

OMIM 57 600166
ICD10 via Orphanet 34 E21.0
Orphanet 59 ORPHA99878
MedGen 42 C1838501

Summaries for Hyperparathyroidism, Primary, Caused by Water Clear Cell...

MalaCards based summary : Hyperparathyroidism, Primary, Caused by Water Clear Cell Hyperplasia, also known as hereditary parathyroids hyperplasia, is related to hyperparathyroidism and primary hyperparathyroidism. Affiliated tissues include bone, thyroid and testes, and related phenotypes are parathyroid hyperplasia and primary hyperparathyroidism

More information from OMIM: 600166

Related Diseases for Hyperparathyroidism, Primary, Caused by Water Clear Cell...

Graphical network of the top 20 diseases related to Hyperparathyroidism, Primary, Caused by Water Clear Cell Hyperplasia:



Diseases related to Hyperparathyroidism, Primary, Caused by Water Clear Cell Hyperplasia

Symptoms & Phenotypes for Hyperparathyroidism, Primary, Caused by Water Clear Cell...

Human phenotypes related to Hyperparathyroidism, Primary, Caused by Water Clear Cell Hyperplasia:

59 32 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 parathyroid hyperplasia 59 32 obligate (100%) Obligate (100%) HP:0008208
2 primary hyperparathyroidism 59 32 obligate (100%) Obligate (100%) HP:0008200
3 hypercalcemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003072
4 elevated circulating parathyroid hormone level 59 32 hallmark (90%) Very frequent (99-80%) HP:0003165
5 dysphagia 59 32 frequent (33%) Frequent (79-30%) HP:0002015
6 polydipsia 59 32 frequent (33%) Frequent (79-30%) HP:0001959
7 hypophosphatemia 59 32 frequent (33%) Frequent (79-30%) HP:0002148
8 fatigue 59 32 frequent (33%) Frequent (79-30%) HP:0012378
9 osteoporosis 59 32 frequent (33%) Frequent (79-30%) HP:0000939
10 hypercalciuria 59 32 frequent (33%) Frequent (79-30%) HP:0002150
11 nephrocalcinosis 59 32 frequent (33%) Frequent (79-30%) HP:0000121
12 nephrolithiasis 59 32 frequent (33%) Frequent (79-30%) HP:0000787
13 shortened qt interval 59 32 frequent (33%) Frequent (79-30%) HP:0012232
14 muscle weakness 59 32 occasional (7.5%) Occasional (29-5%) HP:0001324
15 nausea and vomiting 59 32 occasional (7.5%) Occasional (29-5%) HP:0002017
16 constipation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002019
17 renal insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0000083
18 chondrocalcinosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000934
19 pancreatitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001733
20 headache 59 32 occasional (7.5%) Occasional (29-5%) HP:0002315
21 episodic abdominal pain 59 32 occasional (7.5%) Occasional (29-5%) HP:0002574
22 peptic ulcer 59 32 occasional (7.5%) Occasional (29-5%) HP:0004398
23 bone pain 59 32 occasional (7.5%) Occasional (29-5%) HP:0002653

Symptoms via clinical synopsis from OMIM:

57
Endocrine:
primary hyperparathyroidism

Lab:
water clear cell hyperplasia

Misc:
strong association with blood group o

Clinical features from OMIM:

600166

Drugs & Therapeutics for Hyperparathyroidism, Primary, Caused by Water Clear Cell...

Search Clinical Trials , NIH Clinical Center for Hyperparathyroidism, Primary, Caused by Water Clear Cell Hyperplasia

Genetic Tests for Hyperparathyroidism, Primary, Caused by Water Clear Cell...

Anatomical Context for Hyperparathyroidism, Primary, Caused by Water Clear Cell...

MalaCards organs/tissues related to Hyperparathyroidism, Primary, Caused by Water Clear Cell Hyperplasia:

41
Bone, Thyroid, Testes, Pituitary

Publications for Hyperparathyroidism, Primary, Caused by Water Clear Cell...

Articles related to Hyperparathyroidism, Primary, Caused by Water Clear Cell Hyperplasia:

(show top 50) (show all 58)
# Title Authors PMID Year
1
Clinical characteristics and surgical results in hyperparathyroidism caused by water-clear cell hyperplasia. 8
7324490 1981
2
Presence of the RET Cys634Tyr mutation and Gly691Ser functional polymorphism in Iranian families with multiple endocrine neoplasia type 2A. 38
26732158 2016
3
[Efficiency of (99)Tc(m)-sestamibi in diagnosis of parathyroid diseases with primary hyperparathyroidism]. 38
25916532 2015
4
Multiple endocrine neoplasia type 2A: case report. 38
24331334 2013
5
Haemangioma of the parathyroid gland. Does it really exist? 38
20063187 2010
6
The experience of parathyroidectomy when treating primary parathyroid hyperplasia. 38
20804669 2010
7
Primary hyperparathyroidism: retrospective 10-year study of 32 cases. 38
23133051 2008
8
Mutational analysis of the PTH 3'-untranslated region in parathyroid disorders. 38
17121534 2006
9
Rare syndromes. 38
16828412 2006
10
Differential RNA expression profile by cDNA microarray in sporadic primary hyperparathyroidism (pHPT): primary parathyroid hyperplasia versus adenoma. 38
16680586 2006
11
Angiogenesis and lymphangiogenesis in parathyroid proliferative lesions. 38
15181073 2004
12
Primary parathyroid hyperplasia. 38
12789760 2003
13
Deletion of 11q23 and cyclin D1 overexpression are frequent aberrations in parathyroid adenomas. 38
11290553 2001
14
Refractory renal hyperparathyroidism: clinical features and outcome of surgical therapy. 38
11307995 2001
15
Efficacy of preoperative dual-phase sestamibi scanning in hyperparathyroidism. 38
11115519 2000
16
Intraoperative parathormone measurement in patients with multiple endocrine neoplasia type I syndrome and hyperparathyroidism. 38
10787076 2000
17
Diagnostic strategies and surgical procedures in persistent or recurrent primary hyperparathyroidism. 38
10543408 1999
18
Ultrasonography of the thyroid and parathyroid glands. 38
9698622 1998
19
MIB-1 proliferative index in parathyroid adenoma & hyperplasia. 38
9183080 1997
20
Value of ultrasonography, CT and MR imaging in the diagnosis of primary hyperparathyroidism. 38
8915283 1996
21
Reduced immunostaining for the extracellular Ca2+-sensing receptor in primary and uremic secondary hyperparathyroidism. 38
8636374 1996
22
Primary hyperparathyroidism in infancy: a case report. 38
8708921 1996
23
Monoclonality of parathyroid tumors in chronic renal failure and in primary parathyroid hyperplasia. 38
7738171 1995
24
Primary parathyroid hyperplasia associated with thyroid hemiagenesis and agenesis of the isthmus. 38
8310416 1994
25
Parathyroid autotransplantation. 38
8430361 1993
26
Serum vitamin D metabolites and calcitriol receptor concentration in parathyroid tissue in primary hyperparathyroidism. 38
1335200 1992
27
Trends in primary hyperparathyroidism surgery. 38
1556892 1992
28
Histological and clinical features of non-familial primary parathyroid hyperplasia. 38
1594479 1992
29
Fifty-three reoperations for hyperparathyroidism. 38
2802046 1989
30
[Primary parathyroid hyperplasia and adenoma: pathological analysis of 63 cases]. 38
3133092 1988
31
Location of parathyroid glands by thallium-technetium subtraction scintigraphy. 38
3324595 1987
32
Autogenous parathyroid grafts for generalized primary parathyroid hyperplasia: contrasting outcome in sporadic hyperplasia versus multiple endocrine neoplasia type I. 38
2884734 1987
33
Primary parathyroid hyperplasia of water-clear cell type. Transformation of water-clear cells into chief cells. 38
3811920 1986
34
A syndrome of familial intrathyroidal primary parathyroid hyperplasia: case reports and critical review of literature. 38
3547452 1986
35
Secretion of chromogranin A by peptide-producing endocrine neoplasms. 38
3007986 1986
36
Surgical strategy in nonfamilial primary parathyroid hyperplasia: long-term follow-up of thirty-nine cases. 38
3992479 1985
37
[High resolution real time sonography of parathyroid tumors]. 38
2859654 1985
38
[Our experience with autotransplantation and cryopreservation of parathyroid tissue in thyro-parathyroid surgery]. 38
6470067 1984
39
Concurrent primary parathyroid hyperplasia and parathyroid carcinoma. 38
6687992 1983
40
Generalized primary parathyroid hyperplasia: studies of the evolution of autogenous parathyroid graft function. 38
6823663 1983
41
Nuclear diameter in parathyroid disease. 38
6826769 1983
42
Familial hypocalciuric hypercalcemia: the relation to primary parathyroid hyperplasia. 38
7045673 1982
43
Surgical management of hyperparathyroidism due to primary hyperplasia. 38
7065744 1982
44
Parathyroid autotransplantation in patients with parathyroid disease and total thyroidectomy. Indications in 117 cases. 38
7283053 1981
45
Abnormal calcium-regulated PTH release in normal parathyroid tissue from patients with adenoma. 38
7282744 1981
46
The parathyroid glands in familial hypocalciuric hypercalcemia. 38
7228018 1981
47
Long-term evaluation of patients with primary parathyroid hyperplasia managed by total parathyroidectomy and heterotopic autotransplantation. 38
7425691 1980
48
The microscopical pathology of primary parathyroid hyperplasia. 38
485093 1979
49
Pituitary adenoma, primary parathyroid hyperplasia and papillary (non-medullary) thyroid carcinoma. A case of multiple endocrine neoplasia (MEN). 38
218337 1979
50
A density test for the intraoperative differentiation of parathyroid hyperplasia from neoplasia. 38
619801 1978

Variations for Hyperparathyroidism, Primary, Caused by Water Clear Cell...

Expression for Hyperparathyroidism, Primary, Caused by Water Clear Cell...

Search GEO for disease gene expression data for Hyperparathyroidism, Primary, Caused by Water Clear Cell Hyperplasia.

Pathways for Hyperparathyroidism, Primary, Caused by Water Clear Cell...

GO Terms for Hyperparathyroidism, Primary, Caused by Water Clear Cell...

Sources for Hyperparathyroidism, Primary, Caused by Water Clear Cell...

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