MCID: GRW032
MIFTS: 22

Growth Factors, Combined Defect of

Categories: Endocrine diseases, Rare diseases, Skin diseases

Aliases & Classifications for Growth Factors, Combined Defect of

MalaCards integrated aliases for Growth Factors, Combined Defect of:

Name: Growth Factors, Combined Defect of 58
Werner-Like Syndrome Due to Combined Growth Factor Deficiency 58 60
Combined Insulin, Insulin-Like Growth Factor 1 and Epidermal Growth Factor Deficiency 60
Insulin, Insulin-Like Growth Factor I, and Epidermal Growth Factor Deficiency 58
Lipodystrophy Due to Peptidic Growth Factors Deficiency 60
Hoepffner-Dreyer-Reimers Syndrome 60
Peptide Growth Factors Deficiency 74

Characteristics:

Orphanet epidemiological data:

60
lipodystrophy due to peptidic growth factors deficiency
Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
growth factors, combined defect of:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 233805
ICD10 via Orphanet 35 E88.1
UMLS via Orphanet 75 C1856243 C2931279
Orphanet 60 ORPHA1979
MedGen 43 C2931279
UMLS 74 C2931279

Summaries for Growth Factors, Combined Defect of

MalaCards based summary : Growth Factors, Combined Defect of, also known as werner-like syndrome due to combined growth factor deficiency, is related to peptidic growth factors deficiency and lipodystrophy due to peptidic growth factors deficiency. The drug Mitogens has been mentioned in the context of this disorder. Affiliated tissues include skin and bone, and related phenotypes are pectus excavatum and pes planus

Description from OMIM: 233805

Related Diseases for Growth Factors, Combined Defect of

Diseases related to Growth Factors, Combined Defect of via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 peptidic growth factors deficiency 11.7
2 lipodystrophy due to peptidic growth factors deficiency 11.4

Symptoms & Phenotypes for Growth Factors, Combined Defect of

Human phenotypes related to Growth Factors, Combined Defect of:

60 33 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pectus excavatum 60 33 Very frequent (99-80%) HP:0000767
2 pes planus 60 33 Very frequent (99-80%) HP:0001763
3 flexion contracture 60 33 Very frequent (99-80%) HP:0001371
4 micrognathia 60 33 Very frequent (99-80%) HP:0000347
5 lipodystrophy 60 33 Very frequent (99-80%) HP:0009125
6 narrow mouth 60 33 Very frequent (99-80%) HP:0000160
7 convex nasal ridge 60 33 Very frequent (99-80%) HP:0000444
8 joint stiffness 60 Very frequent (99-80%)
9 type i diabetes mellitus 60 Frequent (79-30%)
10 lipoatrophy 60 Very frequent (99-80%)
11 palmoplantar keratoderma 60 Very frequent (99-80%)
12 weight loss 60 Very frequent (99-80%)
13 abnormality of the thorax 60 Frequent (79-30%)
14 thin skin 33 HP:0000963
15 lack of skin elasticity 60 Very frequent (99-80%)
16 reduced bone mineral density 60 Frequent (79-30%)
17 cachexia 60 Very frequent (99-80%)
18 premature graying of hair 60 Frequent (79-30%)
19 abnormality of lipid metabolism 60 Frequent (79-30%)
20 abnormality of the face 60 Very frequent (99-80%)
21 aplasia/hypoplasia of the skin 60 Very frequent (99-80%)
22 thickened skin 60 Very frequent (99-80%)
23 abnormality of skin pigmentation 60 Frequent (79-30%)
24 abnormality of the upper limb 60 Frequent (79-30%)
25 abnormality of the hair 60 Frequent (79-30%)
26 abnormality of the lower limb 60 Frequent (79-30%)
27 atherosclerosis 60 Frequent (79-30%)
28 insulin-resistant diabetes mellitus 33 HP:0000831
29 scleroderma 33 HP:0100324
30 dermal atrophy 33 HP:0004334
31 decreased subcutaneous fat 60 Very frequent (99-80%)
32 hyperlipoproteinemia 60 Frequent (79-30%)
33 reduced subcutaneous adipose tissue 33 HP:0003758
34 plantar hyperkeratosis 33 HP:0007556

Symptoms via clinical synopsis from OMIM:

58
H E E N T:
narrow mouth
beaked nose
broad neurocranium
birdlike face
moderate micrognathia

Limbs:
flat feet
joint contractures
reduced subcutaneous fat

Misc:
lipodystrophy of face and trunk

Lab:
type iv hyperlipoproteinemia
combined defect of insulin, insulinlike growth factor i and epidermal growth factor

Metabolic:
insulin-resistant diabetes mellitus

Skin:
atrophic skin
scleroderma-like changes
taut, thin skin
moderate plantar hyperkeratosis
yellowish spotted discolorations
more
Thorax:
slight pectus excavatum

Clinical features from OMIM:

233805

Drugs & Therapeutics for Growth Factors, Combined Defect of

Drugs for Growth Factors, Combined Defect of (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Mitogens

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Keratinocyte Growth Factor and Cytokines in Burns. Completed NCT01302223

Search NIH Clinical Center for Growth Factors, Combined Defect of

Genetic Tests for Growth Factors, Combined Defect of

Anatomical Context for Growth Factors, Combined Defect of

MalaCards organs/tissues related to Growth Factors, Combined Defect of:

42
Skin, Bone

Publications for Growth Factors, Combined Defect of

Variations for Growth Factors, Combined Defect of

Expression for Growth Factors, Combined Defect of

Search GEO for disease gene expression data for Growth Factors, Combined Defect of.

Pathways for Growth Factors, Combined Defect of

GO Terms for Growth Factors, Combined Defect of

Sources for Growth Factors, Combined Defect of

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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