GRDF
MCID: GRW027
MIFTS: 11

Growth Restriction, Severe, with Distinctive Facies (GRDF) malady

Categories: Genetic diseases

Aliases & Classifications for Growth Restriction, Severe, with Distinctive Facies

Aliases & Descriptions for Growth Restriction, Severe, with Distinctive Facies:

Name: Growth Restriction, Severe, with Distinctive Facies 54 66
Grdf 66

Characteristics:

HPO:

32
growth restriction, severe, with distinctive facies:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 54 616489
MedGen 40 CN231729
MeSH 42 D004392

Summaries for Growth Restriction, Severe, with Distinctive Facies

UniProtKB/Swiss-Prot : 66 Growth restriction, severe, with distinctive facies: A disease characterized by severe prenatal and postnatal growth restriction, facial dysmorphism, and short stature in the presence of normal or slightly elevated growth hormone levels.

MalaCards based summary : Growth Restriction, Severe, with Distinctive Facies, is also known as grdf, and has symptoms including low-set ears, muscular hypotonia and delayed skeletal maturation. An important gene associated with Growth Restriction, Severe, with Distinctive Facies is IGF2 (Insulin Like Growth Factor 2).

Description from OMIM: 616489

Related Diseases for Growth Restriction, Severe, with Distinctive Facies

Symptoms & Phenotypes for Growth Restriction, Severe, with Distinctive Facies

Symptoms by clinical synopsis from OMIM:

616489

Clinical features from OMIM:

616489

Human phenotypes related to Growth Restriction, Severe, with Distinctive Facies:

32 (show all 15)
id Description HPO Frequency HPO Source Accession
1 low-set ears 32 HP:0000369
2 muscular hypotonia 32 HP:0001252
3 delayed skeletal maturation 32 HP:0002750
4 short stature 32 HP:0004322
5 feeding difficulties in infancy 32 HP:0008872
6 prominent forehead 32 HP:0011220
7 patent ductus arteriosus 32 HP:0001643
8 cryptorchidism 32 HP:0000028
9 melanocytic nevus 32 HP:0000995
10 hypospadias 32 HP:0000047
11 triangular face 32 HP:0000325
12 ambiguous genitalia 32 HP:0000062
13 decreased body weight 32 HP:0004325
14 motor delay 32 HP:0001270
15 relative macrocephaly 32 HP:0004482

Drugs & Therapeutics for Growth Restriction, Severe, with Distinctive Facies

Search Clinical Trials , NIH Clinical Center for Growth Restriction, Severe, with Distinctive Facies

Genetic Tests for Growth Restriction, Severe, with Distinctive Facies

Anatomical Context for Growth Restriction, Severe, with Distinctive Facies

Publications for Growth Restriction, Severe, with Distinctive Facies

Variations for Growth Restriction, Severe, with Distinctive Facies

ClinVar genetic disease variations for Growth Restriction, Severe, with Distinctive Facies:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 IGF2 NM_000612.5(IGF2): c.23C> A (p.Ser8Ter) single nucleotide variant Pathogenic rs869320620 GRCh38 Chromosome 11, 2135501: 2135501

Expression for Growth Restriction, Severe, with Distinctive Facies

Search GEO for disease gene expression data for Growth Restriction, Severe, with Distinctive Facies.

Pathways for Growth Restriction, Severe, with Distinctive Facies

GO Terms for Growth Restriction, Severe, with Distinctive Facies

Sources for Growth Restriction, Severe, with Distinctive Facies

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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