MCID: GRW027
MIFTS: 23

Growth Restriction, Severe, with Distinctive Facies

Categories: Genetic diseases

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

MalaCards integrated aliases for Growth Restriction, Severe, with Distinctive Facies:

Name: Growth Restriction, Severe, with Distinctive Facies 57 75 6 40
Grdf 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant (from paternal allele)

Miscellaneous:
clinical features present only if mutation inherited on paternal allele
based on report of 4 patients from 1 family (last curated july 2015)


HPO:

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


Classifications:



Summaries for Growth Restriction, Severe, with Distinctive Facies

UniProtKB/Swiss-Prot : 75 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, also known as grdf, is related to type 1 diabetes mellitus 2 and beckwith-wiedemann syndrome. An important gene associated with Growth Restriction, Severe, with Distinctive Facies is IGF2 (Insulin Like Growth Factor 2). Affiliated tissues include bone, and related phenotypes are cryptorchidism and hypospadias

Description from OMIM: 616489

Related Diseases for Growth Restriction, Severe, with Distinctive Facies

Diseases related to Growth Restriction, Severe, with Distinctive Facies via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 type 1 diabetes mellitus 2 9.2 IGF2 INS-IGF2
2 beckwith-wiedemann syndrome 9.1 IGF2 INS-IGF2
3 diabetes mellitus, insulin-dependent 8.9 IGF2 INS-IGF2

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
bilateral preauricular fistulas

Abdomen Gastrointestinal:
feeding difficulties in infancy

Head And Neck Head:
relative macrocephaly
late closure of fontanel

Skin Nails Hair Skin:
pigmented nevi

Growth Weight:
low weight

Genitourinary External Genitalia Male:
hypospadias (in some patients)
ambiguous genitalia (in some patients)

Skeletal Feet:
syndactyly of 2nd-3rd toes

Growth Other:
severe prenatal and postnatal growth restriction

Skeletal Limbs:
contracture with pterygium at elbow (rare)

Endocrine Features:
normal or slightly elevated growth hormone levels
some response to exogenous growth hormone
low serum igf2 levels
normal serum igf1 levels
normal serum igfbp3 levels

Growth Height:
short stature

Head And Neck Face:
prominent forehead
triangular face
micrognathia or retrognathia

Neurologic Central Nervous System:
hypotonia
delayed motor development
low to low-normal intelligence (in some patients)

Skeletal:
delayed bone age

GenitourinaryInternal GenitaliaMale:
cryptorchidism (in some patients)

Skeletal Skull:
late closure of fontanel

Skeletal Hands:
fifth-finger clinodactyly
absent 3rd through 5th digits (rare)

Cardiovascular Heart:
persistent ductus arteriosus (in some patients)
ventricular septal defect, small (in some patients)

Voice:
high-pitched voice in childhood

Prenatal Manifestations Amniotic Fluid:
oligohydramnion (in some patients)


Clinical features from OMIM:

616489

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

32 (show all 15)
# Description HPO Frequency HPO Source Accession
1 cryptorchidism 32 occasional (7.5%) HP:0000028
2 hypospadias 32 occasional (7.5%) HP:0000047
3 ambiguous genitalia 32 occasional (7.5%) HP:0000062
4 triangular face 32 HP:0000325
5 low-set ears 32 HP:0000369
6 melanocytic nevus 32 HP:0000995
7 motor delay 32 HP:0001270
8 generalized hypotonia 32 HP:0001290
9 patent ductus arteriosus 32 occasional (7.5%) HP:0001643
10 delayed skeletal maturation 32 HP:0002750
11 short stature 32 HP:0004322
12 decreased body weight 32 HP:0004325
13 relative macrocephaly 32 HP:0004482
14 feeding difficulties in infancy 32 HP:0008872
15 prominent forehead 32 HP:0011220

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

MalaCards organs/tissues related to Growth Restriction, Severe, with Distinctive Facies:

41
Bone

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
# 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
2 IGF2 NM_000612.5(IGF2): c.23C> A (p.Ser8Ter) single nucleotide variant Pathogenic rs869320620 GRCh37 Chromosome 11, 2156731: 2156731

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

Biological processes related to Growth Restriction, Severe, with Distinctive Facies according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.54 IGF2 INS-IGF2
2 positive regulation of cell proliferation GO:0008284 9.52 IGF2 INS-IGF2
3 regulation of signaling receptor activity GO:0010469 9.51 IGF2 INS-IGF2
4 regulation of gene expression GO:0010468 9.49 IGF2 INS-IGF2
5 positive regulation of MAPK cascade GO:0043410 9.48 IGF2 INS-IGF2
6 activation of MAPK activity GO:0000187 9.46 IGF2 INS-IGF2
7 glucose homeostasis GO:0042593 9.43 IGF2 INS-IGF2
8 response to organic substance GO:0010033 9.4 IGF2 INS-IGF2
9 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.37 IGF2 INS-IGF2
10 response to glucose GO:0009749 9.32 IGF2 INS-IGF2
11 response to insulin GO:0032868 9.26 IGF2 INS-IGF2
12 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.16 IGF2 INS-IGF2
13 response to nutrient levels GO:0031667 8.96 IGF2 INS-IGF2
14 positive regulation of insulin receptor signaling pathway GO:0046628 8.62 IGF2 INS-IGF2

Molecular functions related to Growth Restriction, Severe, with Distinctive Facies according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.26 IGF2 INS-IGF2
2 insulin receptor binding GO:0005158 9.16 IGF2 INS-IGF2
3 insulin-like growth factor receptor binding GO:0005159 8.96 IGF2 INS-IGF2
4 receptor activator activity GO:0030546 8.62 IGF2 INS-IGF2

Sources for Growth Restriction, Severe, with Distinctive Facies

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....