MCID: HYP611
MIFTS: 15

Hypoparathyroidism, X-Linked

Categories: Rare diseases, Endocrine diseases

Aliases & Classifications for Hypoparathyroidism, X-Linked

MalaCards integrated aliases for Hypoparathyroidism, X-Linked:

Name: Hypoparathyroidism, X-Linked 57 13
Parathyroid Glands, Agenesis of 57
Hypoparathyroidism - X-Linked 29
Hypoparathyroidism X-Linked 53
Hypx 57

Characteristics:

OMIM:

57
Inheritance:
x-linked


HPO:

32
hypoparathyroidism, x-linked:
Inheritance x-linked inheritance


Classifications:



Summaries for Hypoparathyroidism, X-Linked

MalaCards based summary : Hypoparathyroidism, X-Linked, is also known as parathyroid glands, agenesis of. An important gene associated with Hypoparathyroidism, X-Linked is HPT (Hypoparathyroidism). Related phenotypes are abnormality of the neck and seizures

Description from OMIM: 307700

Related Diseases for Hypoparathyroidism, X-Linked

Symptoms & Phenotypes for Hypoparathyroidism, X-Linked

Symptoms via clinical synopsis from OMIM:

57
Endocrine:
neonatal true idiopathic hypoparathyroidism

Neuro:
tetany
seizures

Neck:
absent parathyroid glands


Clinical features from OMIM:

307700

Human phenotypes related to Hypoparathyroidism, X-Linked:

32
# Description HPO Frequency HPO Source Accession
1 abnormality of the neck 32 HP:0000464
2 seizures 32 HP:0001250
3 tetany 32 HP:0001281
4 congenital hypoparathyroidism 32 HP:0008198

Drugs & Therapeutics for Hypoparathyroidism, X-Linked

Search Clinical Trials , NIH Clinical Center for Hypoparathyroidism, X-Linked

Genetic Tests for Hypoparathyroidism, X-Linked

Genetic tests related to Hypoparathyroidism, X-Linked:

# Genetic test Affiliating Genes
1 Hypoparathyroidism - X-Linked 29

Anatomical Context for Hypoparathyroidism, X-Linked

Publications for Hypoparathyroidism, X-Linked

Variations for Hypoparathyroidism, X-Linked

Expression for Hypoparathyroidism, X-Linked

Search GEO for disease gene expression data for Hypoparathyroidism, X-Linked.

Pathways for Hypoparathyroidism, X-Linked

GO Terms for Hypoparathyroidism, X-Linked

Sources for Hypoparathyroidism, X-Linked

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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