MCID: ISL125
MIFTS: 28

Isolated Growth Hormone Deficiency Type Iii

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 60 15
Congenital Isolated Growth Hormone Deficiency Type Iii 12 60
Growth Hormone Deficiency with Hypogammaglobulinemia 12 54
X-Linked Isolated Growth Hormone Deficiency 12 60
Congenital Isolated Gh Deficiency Type Iii 12 60
Congenital Ighd Type Iii 12 60
Fleisher Syndrome 12 54
X-Linked Ighd 12 60
Ighd Iii 12 54
Hypogammaglobulinemia and Isolated Growth Hormone Deficiency, X-Linked 54
X-Linked Hypogammaglobulinemia and Isolated Growth Hormone Deficiency 12
Agammaglobulinemia and Isolated Growth Hormone Deficiency, X-Linked 54
X-Linked Agammaglobulinemia and Isolated Growth Hormone Deficiency 12
Growth Hormone Deficiency, Isolated, Type Iii ) 41
Isolated Growth Hormone Deficiency Type 3 54
Ighd3 54

Characteristics:

Orphanet epidemiological data:

60
isolated growth hormone deficiency type iii
Inheritance: X-linked recessive; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 60  
Rare endocrine diseases


External Ids:

Disease Ontology 12 DOID:0060875
ICD10 34 E23.0
ICD10 via Orphanet 35 E23.0
Orphanet 60 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 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:

47
# 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:

42
Pituitary

Publications for Isolated Growth Hormone Deficiency Type Iii

Articles related to Isolated Growth Hormone Deficiency Type Iii:

# Title Authors Year
1
X-linked isolated growth hormone deficiency: expanding the phenotypic spectrum of SOX3 polyalanine tract expansions. ( 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 ESX1 HESX1
2 10.78 ESX1 HESX1
3 10.73 KMT2B KMT2D
4 10.26 KMT2D SOX3

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 KMT2B KMT2D

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 KMT2B KMT2D
2 pituitary gland development GO:0021983 9.16 HESX1 SOX3
3 regulation of transcription, DNA-templated GO:0006355 9.02 ESX1 HESX1 KMT2B KMT2D SOX3
4 histone H3-K4 methylation GO:0051568 8.96 KMT2B KMT2D

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 ESX1 HESX1 KMT2B KMT2D SOX3
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.35 ESX1 HESX1 KMT2B KMT2D SOX3
3 histone-lysine N-methyltransferase activity GO:0018024 9.16 KMT2B KMT2D
4 histone methyltransferase activity (H3-K4 specific) GO:0042800 8.62 KMT2B KMT2D

Sources for Isolated Growth Hormone Deficiency Type Iii

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
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