eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine

HOME
QUERY
- DISEASE
- GENOTYPE
NETWORK
- PHENOTYPE
- GENE
- COMMON
- DISEASE PAIR
DOWNLOAD
SUBMIT CASE
HELP&FAQ
- HELP&FAQ
- CONTACT US


	pseudohypoparathyroidism

Disease ID	124
Disease	pseudohypoparathyroidism
Definition	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.
Synonym	constitutional chronic hypocalcaemia constitutional chronic hypocalcemia familial pseudohypoparathyroidism martin-albright syndrome parathyroid hormone resistant hypoparathyroidism pseudo hypoparathyroidism pseudo-hypoparathyroidism pseudohypoparathyroidism (disorder) pseudohypoparathyroidism [disease/finding] pseudohypoparathyroidism, nos pseudohypoparathyroidisms pseudopseudohypoparathyroidism seabright bantam syndrome seabright-bantam syndrome
Orphanet	ORPHANET:97593 ORPHANET:79445
OMIM	OMIM:612463
DOID	DOID:4184 DOID:4183
ICD10	ICD10CM:E20.1
UMLS	C0033806
MeSH	D011547 D011556
SNOMED-CT	SNOMEDCT_US_2016_09_01:58976002
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:15) C0033806 \| albright hereditary osteodystrophy \| 4 C0042870 \| vitamin d defic \| 1 C0042870 \| vitamin d deficiency \| 1 C0037928 \| myelopathy \| 1 C0011847 \| diabetes \| 1 C0020502 \| hyperparathyroidism \| 1 C0037315 \| sleep apnea \| 1 C0020626 \| hypoparathyroidism \| 1 C0085681 \| hyperphosphataemia \| 1 C0677607 \| hashimoto's thyroiditis \| 1 C0040147 \| thyroiditis \| 1 C0033806 \| albright's hereditary osteodystrophy \| 1 C0001126 \| renal tubular acidosis \| 1 C0011849 \| diabetes mellitus \| 1 C0042373 \| vascular disease \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 2778 \| GNAS \| CLINVAR;CTD_human;ORPHANET;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:62) 84890 \| ADO \| 1.688 \| DISEASES 632 \| BGLAP \| 1.925 \| DISEASES 796 \| CALCA \| 2.847 \| DISEASES 796 \| CALCA \| 1.133 \| DISEASES 1146 \| CHRNG \| 3.024 \| DISEASES 1146 \| CHRNG \| 1.989 \| DISEASES 1760 \| DMPK \| 1.364 \| DISEASES 2116 \| ETV2 \| 2.476 \| DISEASES 2245 \| FGD1 \| 1.435 \| DISEASES 2304 \| FOXE1 \| 2.474 \| DISEASES 2641 \| GCG \| 1.327 \| DISEASES 169792 \| GLIS3 \| 1.202 \| DISEASES 2778 \| GNAS \| 7.856 \| DISEASES 2778 \| GNAS \| 6.655 \| DISEASES 149775 \| GNAS-AS1 \| 4.306 \| DISEASES 2859 \| GPR35 \| 2.888 \| DISEASES 2859 \| GPR35 \| 1.942 \| DISEASES 2887 \| GRB10 \| 2.23 \| DISEASES 2887 \| GRB10 \| 2.152 \| DISEASES 23560 \| GTPBP4 \| 3.011 \| DISEASES 23560 \| GTPBP4 \| 1.823 \| DISEASES 102723508 \| KANTR \| 1.669 \| DISEASES 10984 \| KCNQ1OT1 \| 1.022 \| DISEASES 154288 \| KHDC3L \| 2.297 \| DISEASES 547 \| KIF1A \| 2.311 \| DISEASES 8022 \| LHX3 \| 1.183 \| DISEASES 10724 \| MGEA5 \| 1.936 \| DISEASES 55655 \| NLRP2 \| 2.671 \| DISEASES 126206 \| NLRP5 \| 2.16 \| DISEASES 199713 \| NLRP7 \| 2.514 \| DISEASES 190 \| NR0B1 \| 1.272 \| DISEASES 4976 \| OPA1 \| 1.925 \| DISEASES 5144 \| PDE4D \| 3.611 \| DISEASES 5144 \| PDE4D \| 3.467 \| DISEASES 5449 \| POU1F1 \| 1.037 \| DISEASES 5573 \| PRKAR1A \| 3.579 \| DISEASES 5573 \| PRKAR1A \| 3.499 \| DISEASES 5745 \| PTH1R \| 3.382 \| DISEASES 5745 \| PTH1R \| 1.59 \| DISEASES 5744 \| PTHLH \| 3.95 \| DISEASES 5744 \| PTHLH \| 2.066 \| DISEASES 83695 \| RHNO1 \| 2.025 \| DISEASES 388015 \| RTL1 \| 1.875 \| DISEASES 860 \| RUNX2 \| 1.553 \| DISEASES 6575 \| SLC20A2 \| 3.157 \| DISEASES 6575 \| SLC20A2 \| 2.712 \| DISEASES 8926 \| SNURF \| 2.278 \| DISEASES 8428 \| STK24 \| 2 \| DISEASES 8428 \| STK24 \| 1.922 \| DISEASES 10494 \| STK25 \| 3.837 \| DISEASES 10494 \| STK25 \| 2.846 \| DISEASES 8675 \| STX16 \| 6.829 \| DISEASES 8675 \| STX16 \| 5.158 \| DISEASES 8802 \| SUCLG1 \| 1.581 \| DISEASES 136306 \| SVOPL \| 3.542 \| DISEASES 117581 \| TWIST2 \| 2.073 \| DISEASES 157680 \| VPS13B \| 2.436 \| DISEASES 23038 \| WDTC1 \| 1.278 \| DISEASES 7485 \| WRB \| 1.661 \| DISEASES 9213 \| XPR1 \| 2.47 \| DISEASES 9213 \| XPR1 \| 1.435 \| DISEASES 346171 \| ZFP57 \| 2.725 \| DISEASES
Locus	(Waiting for update.)

Disease ID	124
Disease	pseudohypoparathyroidism
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:18) HP:0002901 \| Hypocalcemia \| 3 HP:0000843 \| Hyperparathyroidism \| 1 HP:0000819 \| Diabetes mellitus \| 1 HP:0011770 \| Tertiary hyperparathyroidism \| 1 HP:0000829 \| Hypoparathyroidism \| 1 HP:0001947 \| Renal tubular acidosis \| 1 HP:0002196 \| Myelopathy \| 1 HP:0008341 \| Renal tubular acidosis, type I \| 1 HP:0001250 \| Seizures \| 1 HP:0004308 \| Ventricular arrhythmia \| 1 HP:0002176 \| Spinal cord compression \| 1 HP:0007618 \| Subcutaneous calcification \| 1 HP:0100512 \| Vitamin D deficiency \| 1 HP:0010535 \| Sleep apnea \| 1 HP:0002104 \| Absence of spontaneous respiration \| 1 HP:0001941 \| acidemia \| 1 HP:0000872 \| Hashimoto's thyroiditis \| 1 HP:0100646 \| Thyroiditis \| 1

Disease ID	124
Disease	pseudohypoparathyroidism
Manually Symptom	UMLS \| Name(Total Manually Symptoms:34) C2700526 \| erythrocytosis C2029884 \| hearing loss C1963185 \| obesity C1963138 \| hypertension C1863767 \| m syndrome C1855534 \| logic syndrome C0752303 \| urological manifestations C0752210 \| paroxysmal dyskinesia C0494475 \| tonic-clonic seizures C0376293 \| stigmata C0348024 \| thyroid dysfunction C0334041 \| osteoma cutis C0334041 \| cutaneous ossification C0271586 \| prolactin deficiency C0271561 \| growth hormone deficiency C0263981 \| massive calcification C0242604 \| tsh resistance C0242604 \| thyroid hormone resistance C0242422 \| parkinsonism C0039621 \| tetany C0039070 \| syncope C0037926 \| spinal cord compression C0036572 \| seizures C0033975 \| psychoses C0033860 \| psoriasis C0033845 \| pseudotumor cerebri C0023890 \| liver cirrhosis C0020598 \| hypocalcemia C0020503 \| secondary hyperparathyroidism C0018801 \| cardiac failure C0016788 \| fucosidosis C0014130 \| hormonal disorder C0005944 \| metabolic bone disease C0005747 \| blepharospasm
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:3) C0020598 \| hypocalcemia \| 2 C0037926 \| spinal cord compression \| 1 C0036572 \| seizures \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:15)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs137854530	NA	2778	GNAS	umls:C0033806	CLINVAR	NA	0.302971597	NA	GNAS	20	58891727	A	G
rs137854531	NA	2778	GNAS	umls:C0033806	CLINVAR	NA	0.302971597	NA	GNAS	20	58903569	T	C
rs137854532	NA	2778	GNAS	umls:C0033806	CLINVAR	NA	0.302971597	NA	GNAS	20	58905443	C	T
rs137854534	NA	2778	GNAS	umls:C0033806	CLINVAR	NA	0.302971597	NA	GNAS	20	58909715	C	G
rs137854535	NA	2778	GNAS	umls:C0033835	CLINVAR	NA	0.445700279	NA	GNAS	20	58909737	C	T
rs137854536	NA	2778	GNAS	umls:C0033835	CLINVAR	NA	0.445700279	NA	NA	NA	NA	NA	NA
rs137854538	NA	2778	GNAS	umls:C0033806	CLINVAR	NA	0.302971597	NA	GNAS	20	58909553	G	A
rs137854539	NA	2778	GNAS	umls:C0033806	CLINVAR	NA	0.302971597	NA	GNAS	20	58903703	C	T
rs137854539	NA	2778	GNAS	umls:C0033835	CLINVAR	NA	0.445700279	NA	GNAS	20	58903703	C	T
rs397514456	NA	2778	GNAS	umls:C0033835	CLINVAR	NA	0.445700279	NA	GNAS	20	58910818	G	A,T
rs397514456	NA	2778	GNAS	umls:C0033806	CLINVAR	NA	0.302971597	NA	GNAS	20	58910818	G	A,T
rs587776829	NA	2778	GNAS	umls:C0033806	CLINVAR	NA	0.302971597	NA	GNAS	20	58909196	GACT	-
rs587776829	NA	2778	GNAS	umls:C0033835	CLINVAR	NA	0.445700279	NA	GNAS	20	58909196	GACT	-
rs797045046	NA	2778	GNAS	umls:C0033806	CLINVAR	NA	0.302971597	NA	GNAS	20	58891760	C	T
rs797045046	NA	2778	GNAS	umls:C0033835	CLINVAR	NA	0.445700279	NA	GNAS	20	58891760	C	T

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	124
Disease	pseudohypoparathyroidism
Case	(Waiting for update.)

Web Analytics Made Easy - StatCounter