Details of Disease

General Information of Disease (ID: DISUM3N0)

Disease Name Isolated growth hormone deficiency, type 4
Synonyms
Isolated Growth Hormone Deficiency, Type Ib, Formerly; Isolated Growth Hormone Deficiency, Type Ib; IGHD4; Dwarfism of Sindh; ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV; growth hormone deficiency, isolated, type IV
Disease Hierarchy
DISTL7RP: Isolated congenital growth hormone deficiency
DISUM3N0: Isolated growth hormone deficiency, type 4
Disease Identifiers
MONDO ID
MONDO_0032567
UMLS CUI
C4722273
OMIM ID
618157
MedGen ID
1648300

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
GHRHR TTG4R8V Strong Autosomal recessive [1]
GHRHR TTG4R8V Strong Genetic Variation [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GHRHR OTU6TOQ4 Strong Autosomal recessive [1]
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References

1 Isolated growth hormone (GH) deficiency due to compound heterozygosity for two new mutations in the GH-releasing hormone receptor gene. Clin Endocrinol (Oxf). 2001 May;54(5):681-7. doi: 10.1046/j.1365-2265.2001.01273.x.
2 A new missense mutation in the growth hormone-releasing hormone receptor gene in familial isolated GH deficiency.Eur J Endocrinol. 2003 Jan;148(1):25-30. doi: 10.1530/eje.0.1480025.