IGHD5
MCID: ISL124
MIFTS: 18

Isolated Growth Hormone Deficiency, Type V (IGHD5)

Categories: Bone diseases, Endocrine diseases, Genetic diseases

Aliases & Classifications for Isolated Growth Hormone Deficiency, Type V

MalaCards integrated aliases for Isolated Growth Hormone Deficiency, Type V:

Name: Isolated Growth Hormone Deficiency, Type V 58 76 6
Growth Hormone Deficiency, Isolated, Type V 58 76
Ighd5 58 76
Growth Hormone Deficiency, Isolated, 5 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
based on a report of 3 romanian sisters (last curated october 2018)
patients respond well to growth hormone therapy


Classifications:



External Ids:

OMIM 58 618160
MeSH 45 D004393
MedGen 43 CN257749
SNOMED-CT via HPO 70 2109003 90145001

Summaries for Isolated Growth Hormone Deficiency, Type V

UniProtKB/Swiss-Prot : 76 Growth hormone deficiency, isolated, 5: An autosomal recessive deficiency of growth hormone characterized by severe postnatal growth failure, delayed bone age without bone dysplasia, and hypoplasia of the anterior pituitary.

MalaCards based summary : Isolated Growth Hormone Deficiency, Type V, is also known as growth hormone deficiency, isolated, type v. An important gene associated with Isolated Growth Hormone Deficiency, Type V is RNPC3 (RNA Binding Region (RNP1, RRM) Containing 3). Affiliated tissues include bone and pituitary, and related phenotypes are frontal bossing and growth hormone deficiency

OMIM : 58 Isolated growth hormone deficiency type V is characterized by severe postnatal growth failure, delayed bone age without bone dysplasia, and hypoplasia of the anterior pituitary (Argente et al., 2014). (618160)

Related Diseases for Isolated Growth Hormone Deficiency, Type V

Symptoms & Phenotypes for Isolated Growth Hormone Deficiency, Type V

Human phenotypes related to Isolated Growth Hormone Deficiency, Type V:

33
# Description HPO Frequency HPO Source Accession
1 frontal bossing 33 HP:0002007
2 growth hormone deficiency 33 HP:0000824

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Face:
frontal bossing
cherubic face

Endocrine Features:
growth hormone deficiency
hypoplasia of the anterior pituitary

Growth Weight:
central obesity

Neurologic Central Nervous System:
hypoplasia of the anterior pituitary

Skeletal Skull:
microcephaly, mild

Laboratory Abnormalities:
elevated ghrelin levels

Abdomen External Features:
truncal obesity

Skeletal:
delayed bone maturation

Growth Other:
postnatal growth failure

Head And Neck Head:
microcephaly, mild

Growth Height:
short stature, severe proportionate

Clinical features from OMIM:

618160

Drugs & Therapeutics for Isolated Growth Hormone Deficiency, Type V

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

Genetic Tests for Isolated Growth Hormone Deficiency, Type V

Anatomical Context for Isolated Growth Hormone Deficiency, Type V

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

42
Bone, Pituitary

Publications for Isolated Growth Hormone Deficiency, Type V

Articles related to Isolated Growth Hormone Deficiency, Type V:

# Title Authors Year
1
Mutations in the U11/U12-65K protein associated with isolated growth hormone deficiency lead to structural destabilization and impaired binding of U12 snRNA. ( 29255062 )
2018
2
Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency. ( 24480542 )
2014

Variations for Isolated Growth Hormone Deficiency, Type V

UniProtKB/Swiss-Prot genetic disease variations for Isolated Growth Hormone Deficiency, Type V:

76
# Symbol AA change Variation ID SNP ID
1 RNPC3 p.Pro474Thr VAR_081540

ClinVar genetic disease variations for Isolated Growth Hormone Deficiency, Type V:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RNPC3 NM_017619.3(RNPC3): c.1420C> A (p.Pro474Thr) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 104093621: 104093621
2 RNPC3 NM_017619.3(RNPC3): c.1420C> A (p.Pro474Thr) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 103550999: 103550999
3 RNPC3 NM_017619.3(RNPC3): c.1504C> T (p.Arg502Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 104094352: 104094352
4 RNPC3 NM_017619.3(RNPC3): c.1504C> T (p.Arg502Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 103551730: 103551730

Expression for Isolated Growth Hormone Deficiency, Type V

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

Pathways for Isolated Growth Hormone Deficiency, Type V

GO Terms for Isolated Growth Hormone Deficiency, Type V

Sources for Isolated Growth Hormone Deficiency, Type V

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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