MCID: HSX001
MIFTS: 8

Hesx1-Related Combined Pituitary Hormone Deficiency

Categories: Genetic diseases, Endocrine diseases

Aliases & Classifications for Hesx1-Related Combined Pituitary Hormone Deficiency

MalaCards integrated aliases for Hesx1-Related Combined Pituitary Hormone Deficiency:

Name: Hesx1-Related Combined Pituitary Hormone Deficiency 24
Growth Hormone Deficiency with Pituitary Anomalies 69
Pituitary Hormone Deficiency, Combined 5 29
Combined Pituitary Hormone Deficiency 5 24
Cphd5 24

Classifications:



Summaries for Hesx1-Related Combined Pituitary Hormone Deficiency

MalaCards based summary : Hesx1-Related Combined Pituitary Hormone Deficiency, also known as growth hormone deficiency with pituitary anomalies, is related to septooptic dysplasia. An important gene associated with Hesx1-Related Combined Pituitary Hormone Deficiency is HESX1 (HESX Homeobox 1). Affiliated tissues include pituitary.

Related Diseases for Hesx1-Related Combined Pituitary Hormone Deficiency

Diseases related to Hesx1-Related Combined Pituitary Hormone Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 septooptic dysplasia 11.4

Symptoms & Phenotypes for Hesx1-Related Combined Pituitary Hormone Deficiency

Drugs & Therapeutics for Hesx1-Related Combined Pituitary Hormone Deficiency

Search Clinical Trials , NIH Clinical Center for Hesx1-Related Combined Pituitary Hormone Deficiency

Genetic Tests for Hesx1-Related Combined Pituitary Hormone Deficiency

Genetic tests related to Hesx1-Related Combined Pituitary Hormone Deficiency:

id Genetic test Affiliating Genes
1 Pituitary Hormone Deficiency, Combined 5 29
2 Hesx1-Related Combined Pituitary Hormone Deficiency 24 HESX1

Anatomical Context for Hesx1-Related Combined Pituitary Hormone Deficiency

MalaCards organs/tissues related to Hesx1-Related Combined Pituitary Hormone Deficiency:

39
Pituitary

Publications for Hesx1-Related Combined Pituitary Hormone Deficiency

Variations for Hesx1-Related Combined Pituitary Hormone Deficiency

ClinVar genetic disease variations for Hesx1-Related Combined Pituitary Hormone Deficiency:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 HESX1 NM_003865.2(HESX1): c.77T> C (p.Ile26Thr) single nucleotide variant Pathogenic rs28936416 GRCh37 Chromosome 3, 57233870: 57233870
2 HESX1 NM_003865.2(HESX1): c.450_451delCA (p.Asp150Glufs) deletion Pathogenic rs587776664 GRCh37 Chromosome 3, 57232427: 57232428
3 HESX1 NM_003865.2(HESX1): c.357+2T> C single nucleotide variant Pathogenic rs575112817 GRCh37 Chromosome 3, 57232779: 57232779
4 HESX1 NM_003865.2(HESX1): c.18G> C (p.Gln6His) single nucleotide variant Pathogenic rs121909173 GRCh37 Chromosome 3, 57233929: 57233929

Expression for Hesx1-Related Combined Pituitary Hormone Deficiency

Search GEO for disease gene expression data for Hesx1-Related Combined Pituitary Hormone Deficiency.

Pathways for Hesx1-Related Combined Pituitary Hormone Deficiency

GO Terms for Hesx1-Related Combined Pituitary Hormone Deficiency

Sources for Hesx1-Related Combined Pituitary Hormone Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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