Pseudohypoparathyroidism disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: PSD015 MIFTS: 56	Pseudohypoparathyroidism Categories: Blood diseases, Bone diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs Expand all tables

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Aliases & Classifications for Pseudohypoparathyroidism

MalaCards integrated aliases for Pseudohypoparathyroidism:

Name: Pseudohypoparathyroidism ¹² ⁷⁴ ⁵² ⁵⁸ ³⁶ ²⁹ ⁵⁴ ⁶ ¹⁵ ⁷¹ ³²

Characteristics:

Orphanet epidemiological data:

⁵⁸

pseudohypoparathyroidism
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/1000000 (Italy),1-9/1000000 (Japan),1-9/1000000 (Europe); Age of onset: All ages; Age of death: normal life expectancy;

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases Metabolic diseases Genetic diseases
Anatomical: Endocrine diseases Nephrological diseases Bone diseases Blood diseases Eye diseases Skin diseases

See all MalaCards categories (disease lists)

ICD10: ³² ³³

Endocrine, nutritional and metabolic diseases

Disorders of other endocrine glands

Hypoparathyroidism

Pseudohypoparathyroidism

Orphanet: ⁵⁸

Rare renal diseases

Rare endocrine diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:4184

KEGG ³⁶ H00244

MeSH ⁴³ D011547 {http

NCIt ⁴⁹ C99027

SNOMED-CT ⁶⁷ 58976002

ICD10 ³² E20.1

MESH via Orphanet ⁴⁴ D011547

ICD10 via Orphanet ³³ E20.1

UMLS via Orphanet ⁷² C0033806

Orphanet ⁵⁸ ORPHA97593

UMLS ⁷¹ C0033806

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Summaries for Pseudohypoparathyroidism

NIH Rare Diseases : ⁵² Pseudohypoparathyroidism is a genetic disorder in which the body is unable to respond to parathyroid hormone . Parathyroid hormone helps control calcium, phosphorous, and vitamin D levels in the bones and blood. Hypoparathyroidism is a similar condition in which the body does not make enough parathyroid hormone instead of not being able to respond to it (as in pseudohypoparathyroidism). The symptoms of these two conditions are similar and are caused by low calcium levels and high phosphate levels in the blood. This may cause cataracts (clouding of the lens of the eye), dental problems, numbness, seizures , or tetany (muscle twitches and hand and foot spasms). These symptoms are usually first seen in childhood. There are two different types of pseudohypoparathyroidism, both of which are caused by spelling mistakes (mutations ) in certain genes . Type 1 can be further divided into three sub-types. Click on the links below for more information on the various types of pseudohypoparathyroidism. Pseudohypoparathyroidism type 1A Pseudohypoparathyroidism type 1B Pseudohypoparathyroidism type 1C Pseudohypoparathyroidism type 2

MalaCards based summary : Pseudohypoparathyroidism is related to pseudohypoparathyroidism, type ic and pseudohypoparathyroidism, type ib, and has symptoms including seizures An important gene associated with Pseudohypoparathyroidism is GNAS (GNAS Complex Locus), and among its related pathways/superpathways are SNARE interactions in vesicular transport and Signaling by GPCR. The drugs Theophylline and tannic acid have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and testes, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

KEGG : ³⁶ Pseudohypoparathyroidism refers to a heterogeneous group of autosomal dominant disorders characterized by hypocalcemia and hyperphosphatemia due to resistance to parathyroid hormone. The disease phenotype of type Ia is characterized by Albright hereditary osteodystrophy (AHO) and resistance PTH and many other hormones, while that of type Ib shows hypothyroidism due to resistance to TSH restricted to renal tubule cells.

Wikipedia : ⁷⁴ Pseudohypoparathyroidism is a condition associated primarily with resistance to the parathyroid hormone.... more...

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Related Diseases for Pseudohypoparathyroidism

Diseases in the Pseudohypoparathyroidism family:

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

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

(show top 50) (show all 383)

#	Related Disease	Score	Top Affiliating Genes
1	pseudohypoparathyroidism, type ic	35.0	MC4R GNAS
2	pseudohypoparathyroidism, type ib	34.1	STX16 PTHLH PTH1R PTH GNAS-AS1 GNAS
3	pseudopseudohypoparathyroidism	33.4	STX16 PTHLH PTH PRKAR1A PDE4D GNAS-AS1
4	pseudohypoparathyroidism, type ia	32.4	TRH STX16 PTHLH PTH1R PTH PRL
5	osseous heteroplasia, progressive	32.2	STX16 PTH PRKAR1A GNAS-AS1 GNAS BGLAP
6	acrodysostosis	32.0	STX16 PTHLH PTH1R PTH PRKAR1A PDE4D
7	disorders of gnas inactivation	31.6	STX16 GNAS-AS1 GNAS
8	hyperphosphatemia	31.5	STX16 PTH GNAS BGLAP
9	secondary hyperparathyroidism	30.5	PTH1R PTH CALCA BGLAP
10	hypothyroidism, congenital, nongoitrous, 1	30.5	STX16 PTH PRKAR1A PDE4D GNAS-AS1 GNAS
11	osteitis fibrosa	30.4	PTH GNAS CALCA BGLAP
12	acrodysostosis with multiple hormone resistance	30.4	PRKAR1A PDE4D
13	chromosome 2q37 deletion syndrome	30.4	STX16 PTH GNAS-AS1 GNAS
14	beckwith-wiedemann syndrome	30.3	PRKAR1A IGF1 GNAS-AS1 GNAS
15	osteomalacia	30.2	PTHLH PTH CALCA BGLAP
16	hypoparathyroidism	30.2	PTHLH PTH1R PTH PRKAR1A IGF1 GNAS
17	hyperparathyroidism	30.0	PTHLH PTH1R PTH PRKAR1A IGF1 CALCA
18	leptin deficiency or dysfunction	30.0	TRH MC4R LEP IGF1
19	bone disease	29.9	PTHLH PTH1R PTH IGF1 CALCA BGLAP
20	congenital hypothyroidism	29.8	PRL IGF1 GNAS
21	empty sella syndrome	29.8	TRH PRL IGF1
22	brachydactyly	29.8	TRPS1 STX16 REN PTHLH PTH PRKAR1A
23	turner syndrome	29.8	PRL LEP IGF1 BGLAP
24	sleep apnea	29.7	REN LEP IGF1
25	diabetes insipidus	29.7	REN PRL CALCA
26	thyroiditis	29.7	TRH PRL CALCA
27	osteogenic sarcoma	29.6	PTHLH PTH1R PTH IGF1 BGLAP
28	renal osteodystrophy	29.6	PTH1R PTH CALCA BGLAP
29	hypocalcemia, autosomal dominant 1	29.4	PTHLH PTH PRKAR1A GNAS CALCA BGLAP
30	amenorrhea	29.3	TRH PRL LEP IGF1 BGLAP
31	hypopituitarism	29.3	TRH PRL LEP IGF1 BGLAP
32	hyperprolactinemia	29.2	TRH PTHLH PTH PRL IGF1 GNAS
33	primary hyperparathyroidism	29.2	PTHLH PTH1R PTH PRL PRKAR1A IGF1
34	goiter	29.1	TRH PRL IGF1 GNAS CALCA BGLAP
35	bone resorption disease	29.1	PTHLH PTH1R PTH LEP IGF1 CALCA
36	prader-willi syndrome	29.0	TRH PRL MC4R LEP IGF1
37	mccune-albright syndrome	29.0	PTHLH PRL PRKAR1A LEP IGF1 GNAS
38	parathyroid adenoma	28.8	PTHLH PTH PRKAR1A IGF1 GNAS CALCA
39	ovarian disease	28.8	REN PRL LEP IGF1
40	body mass index quantitative trait locus 11	28.8	TRH REN PTH PRL MC4R LEP
41	hypothyroidism	28.5	TRH REN PRL PDE4D LEP IGF1
42	hypertension, essential	28.1	REN PTH PRL MC4R LEP IGF1
43	hyperthyroidism	28.0	TRH PTH PRL LEP IGF1 GNAS
44	diabetes mellitus	27.9	REN PTH PRL MC4R LEP IGF1
45	osteoporosis	27.7	PTHLH PTH1R PTH PRL PRKAR1A LEP
46	conn's syndrome	27.4	TRH REN PRL PRKAR1A LEP IGF1
47	pseudohypoparathyroidism, type ii	12.8
48	pseudohypoparathyroidism without albright hereditary osteodystrophy	12.2
49	basal ganglia calcification, idiopathic, childhood-onset	11.2
50	rickets	10.5

Graphical network of the top 20 diseases related to Pseudohypoparathyroidism:

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Symptoms & Phenotypes for Pseudohypoparathyroidism

UMLS symptoms related to Pseudohypoparathyroidism:

seizures

GenomeRNAi Phenotypes related to Pseudohypoparathyroidism according to GeneCards Suite gene sharing:

²⁶ (show all 27)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased shRNA abundance (Z-score > 2)	GR00366-A-113	9.8	BGLAP
2	Increased shRNA abundance (Z-score > 2)	GR00366-A-114	9.8	IGF1
3	Increased shRNA abundance (Z-score > 2)	GR00366-A-119	9.8	BGLAP TRPS1
4	Increased shRNA abundance (Z-score > 2)	GR00366-A-122	9.8	PRKAR1A
5	Increased shRNA abundance (Z-score > 2)	GR00366-A-124	9.8	BGLAP
6	Increased shRNA abundance (Z-score > 2)	GR00366-A-138	9.8	IGF1
7	Increased shRNA abundance (Z-score > 2)	GR00366-A-139	9.8	IGF1
8	Increased shRNA abundance (Z-score > 2)	GR00366-A-147	9.8	BGLAP
9	Increased shRNA abundance (Z-score > 2)	GR00366-A-161	9.8	IGF1
10	Increased shRNA abundance (Z-score > 2)	GR00366-A-163	9.8	IGF1
11	Increased shRNA abundance (Z-score > 2)	GR00366-A-164	9.8	BGLAP IGF1 TRPS1
12	Increased shRNA abundance (Z-score > 2)	GR00366-A-166	9.8	BGLAP
13	Increased shRNA abundance (Z-score > 2)	GR00366-A-169	9.8	BGLAP
14	Increased shRNA abundance (Z-score > 2)	GR00366-A-176	9.8	IGF1
15	Increased shRNA abundance (Z-score > 2)	GR00366-A-177	9.8	TRPS1
16	Increased shRNA abundance (Z-score > 2)	GR00366-A-178	9.8	BGLAP
17	Increased shRNA abundance (Z-score > 2)	GR00366-A-180	9.8	BGLAP
18	Increased shRNA abundance (Z-score > 2)	GR00366-A-190	9.8	TRPS1
19	Increased shRNA abundance (Z-score > 2)	GR00366-A-193	9.8	IGF1
20	Increased shRNA abundance (Z-score > 2)	GR00366-A-205	9.8	PRKAR1A
21	Increased shRNA abundance (Z-score > 2)	GR00366-A-206	9.8	TRPS1
22	Increased shRNA abundance (Z-score > 2)	GR00366-A-207	9.8	TRPS1
23	Increased shRNA abundance (Z-score > 2)	GR00366-A-208	9.8	IGF1
24	Increased shRNA abundance (Z-score > 2)	GR00366-A-29	9.8	IGF1
25	Increased shRNA abundance (Z-score > 2)	GR00366-A-49	9.8	TRPS1
26	Increased shRNA abundance (Z-score > 2)	GR00366-A-80	9.8	TRPS1
27	Increased shRNA abundance (Z-score > 2)	GR00366-A-99	9.8	IGF1

MGI Mouse Phenotypes related to Pseudohypoparathyroidism:

⁴⁵ (show all 16)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological	MP:0005386	10.36	APC GNAL GNAS LEP MC4R PRKAR1A
2	growth/size/body region	MP:0005378	10.34	APC GNAL GNAS IGF1 LEP MC4R
3	cardiovascular system	MP:0005385	10.31	ADCY10 APC GNAS IGF1 LEP MC4R
4	homeostasis/metabolism	MP:0005376	10.3	ADCY10 APC BGLAP GNAS IGF1 LEP
5	endocrine/exocrine gland	MP:0005379	10.25	APC BGLAP GNAS IGF1 LEP PRKAR1A
6	immune system	MP:0005387	10.25	APC BGLAP GNAS IGF1 LEP MC4R
7	hematopoietic system	MP:0005397	10.22	APC BGLAP GNAS IGF1 LEP MC4R
8	adipose tissue	MP:0005375	10.21	APC BGLAP GNAS IGF1 LEP MC4R
9	craniofacial	MP:0005382	10.07	APC GNAS PRKAR1A PTH PTH1R PTHLH
10	liver/biliary system	MP:0005370	9.97	APC GNAS LEP MC4R PRKAR1A PRL
11	neoplasm	MP:0002006	9.97	APC GNAS IGF1 LEP MC4R PRKAR1A
12	limbs/digits/tail	MP:0005371	9.95	APC GNAS IGF1 LEP PTH PTH1R
13	renal/urinary system	MP:0005367	9.86	APC GNAS IGF1 LEP PTHLH REN
14	reproductive system	MP:0005389	9.85	ADCY10 APC BGLAP IGF1 LEP MC4R
15	respiratory system	MP:0005388	9.56	GNAS IGF1 LEP MC4R PRKAR1A PTH1R
16	skeleton	MP:0005390	9.44	APC BGLAP GNAS IGF1 LEP MC4R

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Drugs & Therapeutics for Pseudohypoparathyroidism

Drugs for Pseudohypoparathyroidism (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 32)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Theophylline

Approved

Phase 4

58-55-9

2153

tannic acid

Approved

Phase 4

1401-55-4

Benzocaine

Approved, Investigational

Phase 4

94-09-7, 1994-09-7

2337

Respiratory System Agents

Phase 4

Phosphodiesterase Inhibitors

Phase 4

Anti-Asthmatic Agents

Phase 4

Vasodilator Agents

Phase 4

Bronchodilator Agents

Phase 4

Neurotransmitter Agents

Phase 4

Methylprednisolone

Approved, Vet_approved

Phase 2

83-43-2

6741

Lidocaine

Approved, Vet_approved

Phase 2

137-58-6

3676

Methylprednisolone hemisuccinate

Approved

Phase 2

2921-57-5

Prednisolone phosphate

Approved, Vet_approved

Phase 2

302-25-0

Prednisolone acetate

Approved, Vet_approved

Phase 2

52-21-1

Prednisolone

Approved, Vet_approved

Phase 2

50-24-8

5755

Prednisolone hemisuccinate

Experimental

Phase 2

2920-86-7

Pharmaceutical Solutions

Phase 2

Anti-Infective Agents

Phase 2

Antitubercular Agents

Phase 2

Antidotes

Phase 2

Chelating Agents

Phase 2

Antioxidants

Phase 2

Methylprednisolone Acetate

Phase 2

Anti-Bacterial Agents

Phase 2

Protective Agents

Phase 2

sodium thiosulfate

Phase 2

Parathyroid hormone

Approved, Investigational

9002-64-6

Vitamin D

Approved, Nutraceutical, Vet_approved

1406-16-2

Mitogens

Hormones

Vitamins

Calciferol

Interventional clinical trials:

(show all 17)

#	Name	Status	NCT ID	Phase	Drugs
1	Effect of Theophylline in Pseudohypoparathyroidism	Not yet recruiting	NCT03718403	Phase 4	Theophylline
2	Effects of Theophylline on cAMP Signaling in Children With Pseudohypoparathyroidism Type 1a	Completed	NCT02463409	Phase 2	Theophylline
3	Phase 2 Study of Theophylline Treatment for Pseudohypoparathyroidism	Recruiting	NCT03029429	Phase 2	Theophylline;Placebos
4	Efficacy of Sodium Thiosulfate in Shoulder Pain in Calcific Tendinitis of the Rotator Cuff	Recruiting	NCT04251832	Phase 2	Sodium Thiosulfate
5	Open-Label Extension Study of Theophylline for Treatment of Pseudohypoparathyroidism	Enrolling by invitation	NCT04240821	Phase 2	Theophylline ER
6	Evaluation of rhGH Replacement Therapy in Patients With Pseudohypoparathyroidism Type Ia (PHP Ia)	Unknown status	NCT00497484		recombinant human somatotropin
7	Study of the Regulation of Parathyroid Hormone Secretion in Pseudohypoparathyroidism	Completed	NCT00004661
8	Early-onset Obesity and Cognitive Impairment in Children With Pseudohypoparathyroidism	Completed	NCT02411461
9	Hypoparathyroidism, Autosomal Dominant Hypocalcaemia and Pseudohypoparathyroidism in Denmark - Epidemiology, Causes, Symptoms and Prognoses	Completed	NCT01498341
10	Studies in Phosphorus Metabolism	Completed	NCT00066183
11	Physiologic Regulation of FGF-23	Completed	NCT00356512
12	Natural History Study of Albright Hereditary Osteodystrophy: Includes Substudies on Effects of Growth Hormone in Patients With Pseudohypoparathyroidism Type 1a and Cognitive & Behavioral Studies in Albright Hereditary Osteodystrophy	Recruiting	NCT00209235
13	Studies of States With Resistance to Vitamin D and Parathyroid Hormone	Recruiting	NCT00001242
14	Family Studies in Metabolic Diseases and Mineral Metabolism	Recruiting	NCT00001345
15	Glucose Homeostasis and Beta Cell Function in Pseudohypoparathyroidism	Active, not recruiting	NCT03761290
16	Characterization of Patients With Idiopathic Hypoparathyroidism, Autosomal Dominant Hypocalcaemia and Pseudohypoparathyroidism	Active, not recruiting	NCT02551120
17	Altered Resting Energy Expenditure as a Cause of Obesity in Pseudohypoparathyroidism 1a: A Pilot Study	Terminated	NCT01398774

Search NIH Clinical Center for Pseudohypoparathyroidism

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Genetic Tests for Pseudohypoparathyroidism

Genetic tests related to Pseudohypoparathyroidism:

#	Genetic test	Affiliating Genes
1	Pseudohypoparathyroidism ²⁹	GNAS

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Anatomical Context for Pseudohypoparathyroidism

MalaCards organs/tissues related to Pseudohypoparathyroidism:

⁴⁰

Bone, Eye, Testes, Thyroid, Brain, Kidney, Skin

Sources

Publications for Pseudohypoparathyroidism

Articles related to Pseudohypoparathyroidism:

(show top 50) (show all 1390)

#	Title	Authors	PMID	Year
1	Short stature, obesity, and growth hormone deficiency in pseudohypoparathyroidism type 1a. ⁵² ⁶¹	Germain-Lee EL	16675931	2006
2	Unique skin changes in a case of Albright hereditary osteodystrophy caused by a rare GNAS1 mutation. ⁶¹ ⁵⁴	Klaassens M...Schrander-Stumpel CT	19863504	2010
3	Selective deficiency of Gsalpha and the possible role of alternative gene products of GNAS in Albright hereditary osteodystrophy and pseudohypoparathyroidism type Ia. ⁶¹ ⁵⁴	Thiele S...Hiort O	19658058	2010
4	Identification of a novel GNAS mutation for pseudohypoparathyroidism in a Chinese family. ⁵⁴ ⁶¹	Sun LH...Liu JM	19381884	2009
5	Boy with pseudohypoparathyroidism type 1a caused by GNAS gene mutation (deltaN377), Crouzon-like craniosynostosis, and severe trauma-induced bleeding. ⁵⁴ ⁶¹	Graul-Neumann LM...Bartsch O	19530187	2009
6	Pseudohypoparathyroidism type IA (PHP-Ia): maternally inherited GNAS gene mutation. ⁵⁴ ⁶¹	Semiz S...Hiort O	19449667	2009
7	New mutation type in pseudohypoparathyroidism type Ia. ⁶¹ ⁵⁴	Fernandez-Rebollo E...de Nanclares GP	18394017	2008
8	Preimplantation genetic diagnosis for severe albright hereditary osteodystrophy. ⁵⁴ ⁶¹	Lietman SA...Levine MA	18089698	2008
9	Cognitive impairment is prevalent in pseudohypoparathyroidism type Ia, but not in pseudopseudohypoparathyroidism: possible cerebral imprinting of Gsalpha. ⁶¹ ⁵⁴	Mouallem M...Farfel Z	17803690	2008
10	[GNAS1 gene abnormality in pseudohypoparathyroidism I a]. ⁵⁴ ⁶¹	Ozono K	17660618	2007
11	A disruptive mutation in exon 3 of the GNAS gene with albright hereditary osteodystrophy, normocalcemic pseudohypoparathyroidism, and selective long transcript variant Gsalpha-L deficiency. ⁶¹ ⁵⁴	Thiele S...Hiort O	17299070	2007
12	Pseudohypoparathyroidism type 1a with congenital hypothyroidism. ⁵⁴ ⁶¹	Pinsker JE...Fenton C	16995592	2006
13	Genetics of pseudohypoparathyroidism types Ia and Ic. ⁵⁴ ⁶¹	Aldred MA	16789628	2006
14	Multihormonal resistance to parathyroid hormone, thyroid stimulating hormone, and other hormonal and neurosensory stimuli in patients with pseudohypoparathyroidism. ⁶¹ ⁵⁴	Wemeau JL...Vlaeminck-Guillem V	16789631	2006
15	Coding GNAS mutations leading to hormone resistance impair in vitro agonist- and cholera toxin-induced adenosine cyclic 3',5'-monophosphate formation mediated by human XLalphas. ⁶¹ ⁵⁴	Linglart A...Bastepe M	16484323	2006
16	Early manifestation of calcinosis cutis in pseudohypoparathyroidism type Ia associated with a novel mutation in the GNAS gene. ⁶¹ ⁵⁴	Riepe FG...Partsch CJ	15817905	2005
17	Albright's hereditary osteodystrophy (pseudohypoparathyroidism type Ia): clinical case with a novel mutation of GNAS1. ⁵⁴ ⁶¹	Garavelli L...Banchini G	16116826	2005
18	Minireview: GNAS: normal and abnormal functions. ⁶¹ ⁵⁴	Weinstein LS...Chen M	15331575	2004
19	Biallelic expression of the Gsalpha gene in human bone and adipose tissue. ⁶¹ ⁵⁴	Mantovani G...Spada A	15579796	2004
20	Brachydactyly in 14 genetically characterized pseudohypoparathyroidism type Ia patients. ⁶¹ ⁵⁴	de Sanctis L...de Sanctis C	15070926	2004
21	Growth hormone deficiency in pseudohypoparathyroidism type 1a: another manifestation of multihormone resistance. ⁵⁴ ⁶¹	Germain-Lee EL...Levine MA	12970262	2003
22	The stimulatory G protein alpha-subunit Gs alpha is imprinted in human thyroid glands: implications for thyroid function in pseudohypoparathyroidism types 1A and 1B. ⁵⁴ ⁶¹	Liu J...Weinstein LS	12970307	2003
23	Molecular analysis of the GNAS1 gene for the correct diagnosis of Albright hereditary osteodystrophy and pseudohypoparathyroidism. ⁵⁴ ⁶¹	De Sanctis L...Dianzani I	12621129	2003
24	Analysis of GNAS1 and overlapping transcripts identifies the parental origin of mutations in patients with sporadic Albright hereditary osteodystrophy and reveals a model system in which to observe the effects of splicing mutations on translated and untranslated messenger RNA. ⁵⁴ ⁶¹	Rickard SJ...Wilson LC	12624854	2003
25	The pseudohypoparathyroidism type lb locus is linked to a region including GNAS1 at 20q13.3. ⁶¹ ⁵⁴	Jan De Beur SM...Levine MA	12619926	2003
26	Pubertal development in patients with McCune-Albright syndrome or pseudohypoparathyroidism. ⁶¹ ⁵⁴	de Sanctis C...de Sanctis L	12729407	2003
27	Pseudohypoparathyroidism type Ib with disturbed imprinting in the GNAS1 cluster and Gsalpha deficiency in platelets. ⁶¹ ⁵⁴	Freson K...Van Geet C	12374764	2002
28	Mutational analysis of the GNAS1 exons encoding the stimulatory G protein in five patients with pseudohypoparathyroidism type 1a. ⁶¹ ⁵⁴	Lim SH...Loke KY	11926205	2002
29	[PTH/PTHrP receptor and pseudohypoparathyroidism]. ⁶¹ ⁵⁴	Yamamoto M	11857923	2002
30	GNAS1 lesions in pseudohypoparathyroidism Ia and Ic: genotype phenotype relationship and evidence of the maternal transmission of the hormonal resistance. ⁶¹ ⁵⁴	Linglart A...Kottler ML	11788646	2002
31	Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy. ⁵⁴ ⁶¹	Ahrens W...Kruse K	11600516	2001
32	Endocrine manifestations of stimulatory G protein alpha-subunit mutations and the role of genomic imprinting. ⁵⁴ ⁶¹	Weinstein LS...Liu J	11588148	2001
33	Clinical evaluation of the Elecsys beta-CrossLaps serum assay, a new assay for degradation products of type I collagen C-tlopeptides. ⁶¹ ⁵⁴	Okabe R...Nishizawa Y	11468230	2001
34	[Albright hereditary osteodystrophy: identification of a novel mutation in a family]. ⁶¹ ⁵⁴	Bastida Eizaguirre M...Escalada San Martin J	11412411	2001
35	Paternal uniparental isodisomy of chromosome 20q--and the resulting changes in GNAS1 methylation--as a plausible cause of pseudohypoparathyroidism. ⁵⁴ ⁶¹	Bastepe M...Juppner H	11294659	2001
36	Selective resistance to parathyroid hormone caused by a novel uncoupling mutation in the carboxyl terminus of G alpha(s). A cause of pseudohypoparathyroidism type Ib. ⁶¹ ⁵⁴	Wu WI...Levine MA	11029463	2001
37	Radiographic findings and Gs-alpha bioactivity studies and mutation screening in acrodysostosis indicate a different etiology from pseudohypoparathyroidism. ⁵⁴ ⁶¹	Graham JM...Lachman RS	11200992	2001
38	Two mutations of the Gsalpha gene in two Japanese patients with sporadic pseudohypoparathyroidism type Ia. ⁵⁴ ⁶¹	Ishikawa Y...Fujieda K	11450852	2001
39	Mutational analysis of GNAS1 in patients with pseudohypoparathyroidism: identification of two novel mutations. ⁵⁴ ⁶¹	Mantovani G...Spada A	11095461	2000
40	Pseudohypoparathyroidism 1b: exclusion of parathyroid hormone and its receptors as candidate disease genes. ⁵⁴ ⁶¹	Jan de Beur SM...Levine MA	10852457	2000
41	G protein defects in signal transduction. ⁶¹ ⁵⁴	Spiegel AM	10971097	2000
42	[Pseudohypoparathyroidism and the concept of hormonal resistance. Types Ia and Ic and pseudohypoparathyroidism]. ⁵⁴ ⁶¹	Vlaeminck-Guillem V...Wemeau JL	10518972	1999
43	Human parathyroid hormone (1-34) increases urinary excretion of lysosomal enzymes in rats. ⁵⁴ ⁶¹	Iwata T...Kido H	10576551	1999
44	Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins. ⁵⁴ ⁶¹	Hayward BE...Bonthron DT	9860993	1998
45	GNAS1 mutational analysis in pseudohypoparathyroidism. ⁶¹ ⁵⁴	Ahmed SF...Thakker RV	9876352	1998
46	The human GNAS1 gene is imprinted and encodes distinct paternally and biallelically expressed G proteins. ⁶¹ ⁵⁴	Hayward BE...Bonthron DT	9707596	1998
47	Pseudohypoparathyroidism type Ia from maternal but not paternal transmission of a Gsalpha gene mutation. ⁶¹ ⁵⁴	Nakamoto JM...Van Dop C	9600732	1998
48	A case of Albright's hereditary osteodystrophy-like syndrome complicated by several endocrinopathies: normal Gs alpha gene and chromosome 2q37. ⁶¹ ⁵⁴	Sakaguchi H...Nanjo K	9589656	1998
49	Deletion of chromosome 22q11 and pseudohypoparathyroidism. ⁵⁴ ⁶¹	Craigen WJ...Baldini A	9295077	1997
50	[Primary hypothyroidism revealing pseudohypoparathyroidism without hypocalcemia and hyperphosphoremia]. ⁶¹ ⁵⁴	Coutant R...Chaussain JL	9230993	1997

Sources

Genes for Pseudohypoparathyroidism

Genes related to Pseudohypoparathyroidism (1 elite genes):

(show all 22)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	GNAS	GNAS Complex Locus	Protein Coding	559.75	Pathogenic ⁶ Genetic Tests ²⁹ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	17299070 18394017 9876352 (more) 11788646 11926205 9600732 11600516 11294659 19658058 19530187 12374764 12729407 12970262 16995592 17660618 1904395 16116826 12970307 11588148 11450852 9295077 15817905 9860993 9707596 18089698 16484323 15070926 11029463 15331575 12624854 12619926 11412411 9050946 11095461 19449667 19381884 12621129 15579796 17803690
2	STX16	Syntaxin 16	Protein Coding	46.61	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
3	PTH	Parathyroid Hormone	Protein Coding	23.11	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Publications (show sections)	10971097 1645251 19863504 (more) 10852457
4	PTH1R	Parathyroid Hormone 1 Receptor	Protein Coding	22.8	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Publications (show sections)	11857923
5	GNAS-AS1	GNAS Antisense RNA 1	RNA Gene	22.37	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Summaries (show sections)
6	PTHLH	Parathyroid Hormone Like Hormone	Protein Coding	20.62	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Publications (show sections)	16789631
7	GNAL	G Protein Subunit Alpha L	Protein Coding	19.22	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Publications (show sections)	8862504
8	BGLAP	Bone Gamma-Carboxyglutamate Protein	Protein Coding	15.59	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Publications (show sections)	11468230
9	APC	APC Regulator Of WNT Signaling Pathway	Protein Coding	14.67	Novoseek inferred ⁵⁴ GeneCards inferred via : Publications (show sections)	9230993 9589656 16789628 (more) 8072545 11200992
10	ADCY10	Adenylate Cyclase 10	Protein Coding	14.52	Novoseek inferred ⁵⁴ GeneCards inferred via : Publications (show sections)	19381884 7702269 8397330 (more) 10518972 8065843
11	PRKAR1A	Protein Kinase CAMP-Dependent Type I Regulatory Subunit Alpha	Protein Coding	13.34	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
12	PDE4D	Phosphodiesterase 4D	Protein Coding	13.3	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
13	MC4R	Melanocortin 4 Receptor	Protein Coding	12.34	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
14	TRH	Thyrotropin Releasing Hormone	Protein Coding	12.01	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
15	IGF1	Insulin Like Growth Factor 1	Protein Coding	11.38	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
16	PRL	Prolactin	Protein Coding	11.14	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
17	LEP	Leptin	Protein Coding	11.08	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
18	CALCA	Calcitonin Related Polypeptide Alpha	Protein Coding	10.78	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴	16789631
19	TRPS1	Transcriptional Repressor GATA Binding 1	Protein Coding	10.54	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
20	REN	Renin	Protein Coding	10.24	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
21	FGFR3	Fibroblast Growth Factor Receptor 3	Protein Coding	10.13	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
22	ADCY1	Adenylate Cyclase 1	Protein Coding	9.7	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)

Sources

Variations for Pseudohypoparathyroidism

ClinVar genetic disease variations for Pseudohypoparathyroidism:

⁶ (show all 31) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	GNAS	NM_001077488.4(GNAS):c.280C>T (p.Gln94Ter)	SNV	Pathogenic	635558		20:57478605-57478605	20:58903550-58903550
2	GNAS	NM_001077488.4(GNAS):c.274A>T (p.Lys92Ter)	SNV	Pathogenic	691981		20:57478599-57478599	20:58903544-58903544
3	GNAS	NM_001077488.4(GNAS):c.842+1G>C	SNV	Pathogenic	15928		20:57484860-57484860	20:58909805-58909805
4	GNAS	NM_001077488.4(GNAS):c.728del (p.Thr243fs)	deletion	Pathogenic	15929		20:57484745-57484745	20:58909690-58909690
5	GNAS	GNAS, IVS3AS, A-G, -12	SNV	Pathogenic	15930
6	GNAS	NM_001077488.4(GNAS):c.299T>C (p.Leu100Pro)	SNV	Pathogenic	15931	rs137854531	20:57478624-57478624	20:58903569-58903569
7	GNAS	NM_001077488.4(GNAS):c.496C>T (p.Arg166Cys)	SNV	Pathogenic	15932	rs137854532	20:57480498-57480498	20:58905443-58905443
8	GNAS	NM_001077488.4(GNAS):c.568_571del (p.Asp190fs)	deletion	Pathogenic	15938	rs587776829	20:57484249-57484252	20:58909194-58909197
9	GNAS	NM_001077488.4(GNAS):c.753C>G (p.Ser251Arg)	SNV	Pathogenic	15939	rs137854534	20:57484770-57484770	20:58909715-58909715
10	GNAS	GNAS, 38-BP DEL, EX1/IVS1 BOUNDARY	deletion	Pathogenic	15940
11	GNAS	NM_001077488.4(GNAS):c.695G>A (p.Arg232His)	SNV	Pathogenic	15946	rs137854538	20:57484608-57484608	20:58909553-58909553
12	GNAS	GNAS, 2-BP DEL, GA, EXON 8	deletion	Pathogenic	15947
13	GNAS	GNAS, 2-BP DEL, CT, EXON 4	deletion	Pathogenic	15948
14	GNAS	GNAS, 1-BP DEL, 348C	deletion	Pathogenic	15949
15	GNAS	GNAS, 1-BP DEL, C, EXON 1	deletion	Pathogenic	15950
16	GNAS	GNAS, 2-BP DEL, TG, EXON 11	deletion	Pathogenic	15951
17	GNAS	GNAS, 1-BP INS, A, EXON 3	insertion	Pathogenic	15957
18	GNAS	GNAS, 12-BP INS, NT1107	insertion	Pathogenic	15958
19	GNAS	NM_001077488.4(GNAS):c.34C>T (p.Gln12Ter)	SNV	Pathogenic	209158	rs797045046	20:57466815-57466815	20:58891760-58891760
20	GNAS	NM_001077488.4(GNAS):c.533+1G>T	SNV	Pathogenic	816649		20:57480536-57480536	20:58905481-58905481
21	GNAS	NM_001077488.4(GNAS):c.694C>T (p.Arg232Cys)	SNV	Pathogenic	816910		20:57484607-57484607	20:58909552-58909552
22	GNAS	NM_001077488.4(GNAS):c.85C>T (p.Gln29Ter)	SNV	Pathogenic	374113	rs1057518907	20:57466866-57466866	20:58891811-58891811
23	GNAS	NM_001077488.4(GNAS):c.1A>G (p.Met1Val)	SNV	Pathogenic/Likely pathogenic	15927	rs137854530	20:57466782-57466782	20:58891727-58891727
24	GNAS	NM_001077488.4(GNAS):c.883C>T (p.Gln295Ter)	SNV	Likely pathogenic	216937	rs863224876	20:57485046-57485046	20:58909991-58909991
25	GNAS	NM_001077488.4(GNAS):c.347C>T (p.Pro116Leu)	SNV	Likely pathogenic	15953	rs137854539	20:57478758-57478758	20:58903703-58903703
26	GNAS	NM_080425.3(GNAS):c.475G>A (p.Glu159Lys)	SNV	Likely pathogenic	431104	rs1135401777	20:57428795-57428795	20:58853740-58853740
27	GNAS	NM_001077488.4(GNAS):c.315+36C>T	SNV	Uncertain significance	816648	rs200066108	20:57478676-57478676	20:58903621-58903621
28	GNAS	NM_001077488.4(GNAS):c.137T>G (p.Leu46Arg)	SNV	Uncertain significance	689463		20:57466918-57466918	20:58891863-58891863
29	GNAS	NM_080425.3(GNAS):c.1200C>A (p.Ala400=)	SNV	Uncertain significance	417934	rs908810796	20:57429520-57429520	20:58854465-58854465
30	GNAS	NM_080425.3(GNAS):c.1455C>A (p.Ala485=)	SNV	Benign	417936	rs55890501	20:57429775-57429775	20:58854720-58854720
31	GNAS	NM_001077488.4(GNAS):c.369C>T (p.Pro123=)	SNV	Benign	729218	rs35287986	20:57478780-57478780	20:58903725-58903725

Copy number variations for Pseudohypoparathyroidism from CNVD:

⁷

#	CNVD ID	Chromosome	Start	End	Type	Gene Symbol	CNVD Disease
1	155546	20	56659733	56687988	Deletion	STX16	Pseudohypoparathyroidism
2	155582	20	56848189	56919645	Deletion	GNAS	Pseudohypoparathyroidism

Sources

Expression for Pseudohypoparathyroidism

Search GEO for disease gene expression data for Pseudohypoparathyroidism.

Sources

Pathways for Pseudohypoparathyroidism

Pathways related to Pseudohypoparathyroidism according to KEGG:

³⁶

#	Name	Kegg Source Accession
1	SNARE interactions in vesicular transport	hsa04130

Pathways related to Pseudohypoparathyroidism according to GeneCards Suite gene sharing:

(show all 16)

#	Super pathways	Score	Top Affiliating Genes
1	Signaling by GPCR ⁶⁵ Show member pathways GPCR downstream signaling ⁶⁵ Signal Transduction ⁶⁵	14	TRH PTHLH PTH1R PTH PRKAR1A PDE4D
2	Peptide ligand-binding receptors ⁶⁵ Show member pathways Class A/1 (Rhodopsin-like receptors) ⁶⁵ Defective AVP causes neurohypophyseal diabetes insipidus (NDI) ⁶⁵ Formyl peptide receptors bind formyl peptides and many other ligands ⁶⁵ G alpha (i) signalling events ⁶⁵ GPCR ligand binding ⁶⁵ GPCRs, Class A Rhodopsin-like ¹ Neuroactive ligand-receptor interaction ³⁶ Orexin and neuropeptides FF and QRFP bind to their respective receptors ⁶⁵ Peptide GPCRs ¹ Tachykinin receptors bind tachykinins ⁶⁵ Vasopressin-like receptors ⁶⁵	13.45	TRH PTHLH PTH1R PTH PRL MC4R
3	Presynaptic function of Kainate receptors ⁶⁵ Show member pathways Activation of Ca-permeable Kainate Receptor ⁶⁵ Activation of Kainate Receptors upon glutamate binding ⁶⁵ Activation of Na-permeable Kainate Receptors ⁶⁵ Calcitonin-like ligand receptors ⁶⁵ Class B/2 (Secretin family receptors) ⁶⁵ G beta-gamma signalling through PLC beta ⁶⁵ Glucagon-type ligand receptors ⁶⁵ G-Protein Signaling through Tubby Protein ⁶³ Ionotropic activity of Kainate Receptors ⁶⁵	12.27	PTHLH PTH1R PTH GNAS CALCA
4	AMPK Enzyme Complex Pathway ⁶³ Show member pathways Chromatin Remodeling ⁶³ mitochondrial L-carnitine shuttle ¹	12.06	PRKAR1A LEP GNAS GNAL
5	Mesenchymal Stem Cells and Lineage-specific Markers ⁶⁴	11.71	PTH LEP IGF1 BGLAP
6	Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling ²² Show member pathways DARPP-32 events ⁶⁵	11.69	PRKAR1A PDE4D GNAS
7	Signal transduction_PKA signaling ²²	11.66	PRKAR1A PDE4D GNAS
8	Parathyroid hormone synthesis, secretion and action ³⁶	11.66	PTHLH PTH1R PTH PDE4D GNAS BGLAP
9	G alpha (s) signalling events ⁶⁵	11.66	PTHLH PTH1R PTH PDE4D MC4R GNAS
10	Endochondral Ossification ¹	11.48	PTHLH PTH1R PTH IGF1
11	Endocrine and other factor-regulated calcium reabsorption ³⁶	11.44	PTH1R PTH GNAS
12	Transcription_Role of VDR in regulation of genes involved in osteoporosis ²²	11.31	PTH1R PTH IGF1 CALCA BGLAP
13	Endothelin Pathways ¹	11.2	GNAS CALCA ADCY10
14	Antipsychotics Pathway (Metabolic Side Effects), Pharmacodynamics ⁶⁰	10.88	PRL MC4R LEP
15	Development_Hedgehog and PTH signaling pathways in bone and cartilage development ²²	10.69	PTHLH PTH1R PTH PRKAR1A GNAS BGLAP
16	Osteoblast Signaling ¹	10.64	PTH1R PTH BGLAP

Sources

GO Terms for Pseudohypoparathyroidism

Cellular components related to Pseudohypoparathyroidism according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	extracellular space	GO:0005615	9.56	REN PTHLH PTH PRL LEP IGF1
2	extracellular region	GO:0005576	9.36	TRH REN PTHLH PTH PRL LEP

Biological processes related to Pseudohypoparathyroidism according to GeneCards Suite gene sharing:

(show all 23)

#	Name	GO ID	Score	Top Affiliating Genes
1	signal transduction	GO:0007165	10.16	TRH PTHLH PTH1R PRL PDE4D MC4R
2	positive regulation of cell proliferation	GO:0008284	10	PTHLH PTH1R PRL LEP IGF1
3	cell-cell signaling	GO:0007267	9.89	TRH PTHLH PTH CALCA
4	aging	GO:0007568	9.84	PTH1R PDE4D CALCA BGLAP
5	G protein-coupled receptor signaling pathway	GO:0007186	9.81	TRH PTHLH PTH1R PTH PDE4D MC4R
6	cellular calcium ion homeostasis	GO:0006874	9.79	PTH1R PTH CALCA
7	positive regulation of cold-induced thermogenesis	GO:0120162	9.78	LEP GNAS APC
8	female pregnancy	GO:0007565	9.73	PTHLH PRL LEP GNAS
9	regulation of blood pressure	GO:0008217	9.72	REN LEP CALCA
10	bone mineralization	GO:0030282	9.67	PTHLH PTH1R BGLAP
11	adenylate cyclase-modulating G protein-coupled receptor signaling pathway	GO:0007188	9.67	PTH1R MC4R GNAS GNAL
12	response to nutrient levels	GO:0031667	9.62	PTH PRL LEP BGLAP
13	regulation of chondrocyte differentiation	GO:0032330	9.58	TRPS1 PTHLH
14	adenylate cyclase-activating dopamine receptor signaling pathway	GO:0007191	9.58	GNAS GNAL
15	osteoblast development	GO:0002076	9.58	PTHLH PTH1R BGLAP
16	sensory perception of chemical stimulus	GO:0007606	9.57	GNAS GNAL
17	positive regulation of inositol phosphate biosynthetic process	GO:0060732	9.56	PTH1R PTH
18	bone mineralization involved in bone maturation	GO:0035630	9.52	LEP IGF1
19	response to parathyroid hormone	GO:0071107	9.51	PTH GNAS
20	skeletal system development	GO:0001501	9.5	TRPS1 PTHLH PTH1R PTH IGF1 GNAS
21	cAMP metabolic process	GO:0046058	9.48	PTHLH PTH
22	energy reserve metabolic process	GO:0006112	9.43	MC4R LEP GNAS
23	adenylate cyclase-activating G protein-coupled receptor signaling pathway	GO:0007189	9.17	PTHLH PTH1R PTH MC4R GNAS GNAL

Molecular functions related to Pseudohypoparathyroidism according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	insulin-like growth factor receptor binding	GO:0005159	9.33	REN IGF1 GNAS
2	beta-2 adrenergic receptor binding	GO:0031698	9.26	PDE4D GNAS
3	hormone activity	GO:0005179	9.17	TRH PTHLH PTH PRL LEP IGF1
4	peptide hormone receptor binding	GO:0051428	9.13	PTHLH PTH LEP

Sources

Sources for Pseudohypoparathyroidism

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

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⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

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¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

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³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia