MCID: FML196
MIFTS: 12

Familial Isolated Hypoparathyroidism Due to Agenesis of Parathyroid Gland

Categories: Endocrine diseases, Rare diseases, Genetic diseases, Eye diseases

Aliases & Classifications for Familial Isolated Hypoparathyroidism Due to Agenesis of...

MalaCards integrated aliases for Familial Isolated Hypoparathyroidism Due to Agenesis of Parathyroid Gland:

Name: Familial Isolated Hypoparathyroidism Due to Agenesis of Parathyroid Gland 59

Characteristics:

Orphanet epidemiological data:

59
familial isolated hypoparathyroidism due to agenesis of parathyroid gland
Inheritance: Autosomal recessive,X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 59  
Rare endocrine diseases


External Ids:

Orphanet 59 ORPHA2239
ICD10 via Orphanet 34 E20.8

Summaries for Familial Isolated Hypoparathyroidism Due to Agenesis of...

MalaCards based summary : Familial Isolated Hypoparathyroidism Due to Agenesis of Parathyroid Gland An important gene associated with Familial Isolated Hypoparathyroidism Due to Agenesis of Parathyroid Gland is GCM2 (Glial Cells Missing Homolog 2). Related phenotypes are congenital hypoparathyroidism and parathyroid agenesis

Related Diseases for Familial Isolated Hypoparathyroidism Due to Agenesis of...

Diseases in the Hypoparathyroidism, Familial Isolated family:

Familial Isolated Hypoparathyroidism Due to Agenesis of Parathyroid Gland

Symptoms & Phenotypes for Familial Isolated Hypoparathyroidism Due to Agenesis of...

Human phenotypes related to Familial Isolated Hypoparathyroidism Due to Agenesis of Parathyroid Gland:

59 32 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 congenital hypoparathyroidism 59 32 obligate (100%) Obligate (100%) HP:0008198
2 parathyroid agenesis 59 32 obligate (100%) Obligate (100%) HP:0008211
3 hypercalciuria 59 32 hallmark (90%) Very frequent (99-80%) HP:0002150
4 hypocalcemic seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0002199
5 hyperphosphatemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002905
6 male infertility 59 32 frequent (33%) Frequent (79-30%) HP:0003251
7 hypomagnesemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002917
8 hypocalcemia 59 Obligate (100%)

Drugs & Therapeutics for Familial Isolated Hypoparathyroidism Due to Agenesis of...

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Expression for Familial Isolated Hypoparathyroidism Due to Agenesis of...

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Pathways for Familial Isolated Hypoparathyroidism Due to Agenesis of...

GO Terms for Familial Isolated Hypoparathyroidism Due to Agenesis of...

Sources for Familial Isolated Hypoparathyroidism Due to Agenesis of...

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