HYPX
MCID: HYP611
MIFTS: 15

Hypoparathyroidism, X-Linked (HYPX)

Categories: Endocrine diseases, Rare diseases

Aliases & Classifications for Hypoparathyroidism, X-Linked

MalaCards integrated aliases for Hypoparathyroidism, X-Linked:

Name: Hypoparathyroidism, X-Linked 58 13
Parathyroid Glands, Agenesis of 58
Hypoparathyroidism - X-Linked 30
Hypoparathyroidism X-Linked 54
Hypx 58

Characteristics:

OMIM:

58
Inheritance:
x-linked


HPO:

33
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 seizures and tetany

Description from OMIM: 307700

Related Diseases for Hypoparathyroidism, X-Linked

Symptoms & Phenotypes for Hypoparathyroidism, X-Linked

Human phenotypes related to Hypoparathyroidism, X-Linked:

33
# Description HPO Frequency HPO Source Accession
1 seizures 33 HP:0001250
2 tetany 33 HP:0001281
3 abnormality of the neck 33 HP:0000464
4 congenital hypoparathyroidism 33 HP:0008198

Symptoms via clinical synopsis from OMIM:

58
Neuro:
seizures
tetany

Neck:
absent parathyroid glands

Endocrine:
neonatal true idiopathic hypoparathyroidism

Clinical features from OMIM:

307700

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 30

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....