MCID: FML196
MIFTS: 11

Familial Isolated Hypoparathyroidism Due to Agenesis of Parathyroid Gland

Categories: Endocrine diseases, Eye diseases, Genetic diseases, Rare 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 58

Characteristics:

Orphanet epidemiological data:

58
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: 58  
Rare eye diseases
Rare endocrine diseases


External Ids:

ICD10 via Orphanet 33 E20.8
Orphanet 58 ORPHA2239

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 Transcription Factor 2). Affiliated tissues include eye, and related phenotypes are congenital hypoparathyroidism and parathyroid agenesis

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

Diseases in the Familial Isolated Hypoparathyroidism family:

Hypoparathyroidism, Familial Isolated, 1 Hypoparathyroidism, Familial Isolated, 2
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:

58 31 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 congenital hypoparathyroidism 58 31 obligate (100%) Obligate (100%) HP:0008198
2 parathyroid agenesis 58 31 obligate (100%) Obligate (100%) HP:0008211
3 hypercalciuria 58 31 hallmark (90%) Very frequent (99-80%) HP:0002150
4 hyperphosphatemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002905
5 hypocalcemic seizures 58 31 hallmark (90%) Very frequent (99-80%) HP:0002199
6 male infertility 58 31 frequent (33%) Frequent (79-30%) HP:0003251
7 hypomagnesemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002917
8 hypocalcemia 58 Obligate (100%)

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

Search Clinical Trials , NIH Clinical Center for Familial Isolated Hypoparathyroidism Due to Agenesis of Parathyroid Gland

Genetic Tests for Familial Isolated Hypoparathyroidism Due to Agenesis of...

Anatomical Context for Familial Isolated Hypoparathyroidism Due to Agenesis of...

MalaCards organs/tissues related to Familial Isolated Hypoparathyroidism Due to Agenesis of Parathyroid Gland:

40
Eye

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

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

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

Search GEO for disease gene expression data for Familial Isolated Hypoparathyroidism Due to Agenesis of Parathyroid Gland.

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...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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