IGHD3
MCID: ISL125
MIFTS: 26

Isolated Growth Hormone Deficiency Type Iii (IGHD3)

Categories: Endocrine diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Isolated Growth Hormone Deficiency Type Iii

MalaCards integrated aliases for Isolated Growth Hormone Deficiency Type Iii:

Name: Isolated Growth Hormone Deficiency Type Iii 12 59 15
Congenital Isolated Growth Hormone Deficiency Type Iii 12 59
Growth Hormone Deficiency with Hypogammaglobulinemia 12 53
X-Linked Isolated Growth Hormone Deficiency 12 59
Congenital Isolated Gh Deficiency Type Iii 12 59
Congenital Ighd Type Iii 12 59
Fleisher Syndrome 12 53
X-Linked Ighd 12 59
Ighd Iii 12 53
Hypogammaglobulinemia and Isolated Growth Hormone Deficiency, X-Linked 53
X-Linked Hypogammaglobulinemia and Isolated Growth Hormone Deficiency 12
Agammaglobulinemia and Isolated Growth Hormone Deficiency, X-Linked 53
X-Linked Agammaglobulinemia and Isolated Growth Hormone Deficiency 12
Growth Hormone Deficiency, Isolated, Type Iii ) 40
Isolated Growth Hormone Deficiency Type 3 53
Ighd3 53

Characteristics:

Orphanet epidemiological data:

59
isolated growth hormone deficiency type iii
Inheritance: X-linked recessive; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 59  
Rare endocrine diseases


External Ids:

Disease Ontology 12 DOID:0060875
ICD10 33 E23.0
ICD10 via Orphanet 34 E23.0
Orphanet 59 ORPHA231692

Summaries for Isolated Growth Hormone Deficiency Type Iii

Disease Ontology : 12 An isolated growth hormone deficiency characterized by dwarfism, variable occurence of hypogammaglobulinemia, and a generally good response to growth hormone therapy that has material basis in mutation in the BTK gene on chromosome Xq22.1.

MalaCards based summary : Isolated Growth Hormone Deficiency Type Iii, also known as congenital isolated growth hormone deficiency type iii, is related to isolated growth hormone deficiency and growth hormone deficiency. An important gene associated with Isolated Growth Hormone Deficiency Type Iii is SOX3 (SRY-Box Transcription Factor 3), and among its related pathways/superpathways are Signaling pathways regulating pluripotency of stem cells and Transcriptional Regulatory Network in Embryonic Stem Cell. Affiliated tissues include pituitary, and related phenotypes are craniofacial and growth/size/body region

Related Diseases for Isolated Growth Hormone Deficiency Type Iii

Graphical network of the top 20 diseases related to Isolated Growth Hormone Deficiency Type Iii:



Diseases related to Isolated Growth Hormone Deficiency Type Iii

Symptoms & Phenotypes for Isolated Growth Hormone Deficiency Type Iii

MGI Mouse Phenotypes related to Isolated Growth Hormone Deficiency Type Iii:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.46 HESX1 KMT2D PHEX SOX3
2 growth/size/body region MP:0005378 9.43 BTK HESX1 KMT2B KMT2D PHEX SOX3
3 mortality/aging MP:0010768 9.1 BTK HESX1 KMT2B KMT2D PHEX SOX3

Drugs & Therapeutics for Isolated Growth Hormone Deficiency Type Iii

Search Clinical Trials , NIH Clinical Center for Isolated Growth Hormone Deficiency Type Iii

Genetic Tests for Isolated Growth Hormone Deficiency Type Iii

Anatomical Context for Isolated Growth Hormone Deficiency Type Iii

MalaCards organs/tissues related to Isolated Growth Hormone Deficiency Type Iii:

41
Pituitary

Publications for Isolated Growth Hormone Deficiency Type Iii

Articles related to Isolated Growth Hormone Deficiency Type Iii:

# Title Authors PMID Year
1
A novel mutation in SOX3 polyalanine tract: a case of Kabuki syndrome with combined pituitary hormone deficiency harboring double mutations in MLL2 and SOX3. 38
24346842 2014
2
X-linked isolated growth hormone deficiency: expanding the phenotypic spectrum of SOX3 polyalanine tract expansions. 38
19654509 2009

Variations for Isolated Growth Hormone Deficiency Type Iii

Expression for Isolated Growth Hormone Deficiency Type Iii

Search GEO for disease gene expression data for Isolated Growth Hormone Deficiency Type Iii.

Pathways for Isolated Growth Hormone Deficiency Type Iii

Pathways related to Isolated Growth Hormone Deficiency Type Iii according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.4 HESX1 ESX1
2 10.78 HESX1 ESX1
3 10.73 KMT2D KMT2B
4 10.26 SOX3 KMT2D

GO Terms for Isolated Growth Hormone Deficiency Type Iii

Cellular components related to Isolated Growth Hormone Deficiency Type Iii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 histone methyltransferase complex GO:0035097 8.62 KMT2D KMT2B

Biological processes related to Isolated Growth Hormone Deficiency Type Iii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of megakaryocyte differentiation GO:0045652 9.26 KMT2D KMT2B
2 pituitary gland development GO:0021983 9.16 SOX3 HESX1
3 regulation of transcription, DNA-templated GO:0006355 9.02 SOX3 KMT2D KMT2B HESX1 ESX1
4 histone H3-K4 methylation GO:0051568 8.96 KMT2D KMT2B

Molecular functions related to Isolated Growth Hormone Deficiency Type Iii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.65 SOX3 KMT2D KMT2B HESX1 ESX1
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.35 SOX3 KMT2D KMT2B HESX1 ESX1
3 histone-lysine N-methyltransferase activity GO:0018024 9.16 KMT2D KMT2B
4 histone methyltransferase activity (H3-K4 specific) GO:0042800 8.62 KMT2D KMT2B

Sources for Isolated Growth Hormone Deficiency Type Iii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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