IGHD5
MCID: ISL124
MIFTS: 21

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 57 72
Growth Hormone Deficiency, Isolated, Type V 57 72
Isolated Growth Hormone Deficiency, Type 5 29 6
Ighd5 57 72
Growth Hormone Deficiency, Isolated, 5 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
isolated growth hormone deficiency, type v:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 618160
OMIM Phenotypic Series 57 PS262400
MeSH 44 D004393

Summaries for Isolated Growth Hormone Deficiency, Type V

UniProtKB/Swiss-Prot : 72 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 pituitary and bone, and related phenotypes are frontal bossing and delayed skeletal maturation

OMIM® : 57 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) (Updated 20-May-2021)

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:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 frontal bossing 31 HP:0002007
2 delayed skeletal maturation 31 HP:0002750
3 microcephaly 31 HP:0000252
4 short stature 31 HP:0004322
5 postnatal growth retardation 31 HP:0008897
6 truncal obesity 31 HP:0001956
7 abdominal obesity 31 HP:0012743
8 decreased response to growth hormone stimuation test 31 HP:0000824

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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

Genetic tests related to Isolated Growth Hormone Deficiency, Type V:

# Genetic test Affiliating Genes
1 Isolated Growth Hormone Deficiency, Type 5 29 RNPC3

Anatomical Context for Isolated Growth Hormone Deficiency, Type V

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

40
Pituitary, Bone

Publications for Isolated Growth Hormone Deficiency, Type V

Articles related to Isolated Growth Hormone Deficiency, Type V:

# Title Authors PMID Year
1
Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency. 6 57
24480542 2014
2
Response to growth hormone in patients with RNPC3 mutations. 57
29866761 2018
3
Mutations in the U11/U12-65K protein associated with isolated growth hormone deficiency lead to structural destabilization and impaired binding of U12 snRNA. 6
29255062 2018
4
Binding of CLL subset 4 B-cell receptor immunoglobulins to viable human memory B lymphocytes requires a distinctive IGKV somatic mutation. 61
28097289 2017
5
Mutational status and gene repertoire of IGHV-IGHD-IGHJ rearrangements in Serbian patients with chronic lymphocytic leukemia. 61
22560084 2012
6
Reconsidering the human immunoglobulin heavy-chain locus: 1. An evaluation of the expressed human IGHD gene repertoire. 61
16402215 2006

Variations for Isolated Growth Hormone Deficiency, Type V

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RNPC3 NM_017619.4(RNPC3):c.1504C>T (p.Arg502Ter) SNV Pathogenic 587368 rs918108896 GRCh37: 1:104094352-104094352
GRCh38: 1:103551730-103551730
2 RNPC3 NM_017619.4(RNPC3):c.1420C>A (p.Pro474Thr) SNV Pathogenic 587367 rs370930012 GRCh37: 1:104093621-104093621
GRCh38: 1:103550999-103550999

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

72
# Symbol AA change Variation ID SNP ID
1 RNPC3 p.Pro474Thr VAR_081540 rs370930012

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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