MCID: GRW032
MIFTS: 20

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 56
Werner-Like Syndrome Due to Combined Growth Factor Deficiency 56 58
Combined Insulin, Insulin-Like Growth Factor 1 and Epidermal Growth Factor Deficiency 58
Insulin, Insulin-Like Growth Factor I, and Epidermal Growth Factor Deficiency 56
Lipodystrophy Due to Peptidic Growth Factors Deficiency 58
Hoepffner-Dreyer-Reimers Syndrome 58
Peptide Growth Factors Deficiency 71

Characteristics:

Orphanet epidemiological data:

58
lipodystrophy due to peptidic growth factors deficiency
Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
growth factors, combined defect of:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare skin diseases
Rare endocrine diseases


Summaries for Growth Factors, Combined Defect of

MalaCards based summary : Growth Factors, Combined Defect of, is also known as werner-like syndrome due to combined growth factor 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 joint stiffness

More information from OMIM: 233805

Related Diseases for Growth Factors, Combined Defect of

Symptoms & Phenotypes for Growth Factors, Combined Defect of

Human phenotypes related to Growth Factors, Combined Defect of:

58 31 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pectus excavatum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000767
2 joint stiffness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001387
3 pes planus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001763
4 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
5 flexion contracture 58 31 hallmark (90%) Very frequent (99-80%) HP:0001371
6 lipoatrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0100578
7 palmoplantar keratoderma 58 31 hallmark (90%) Very frequent (99-80%) HP:0000982
8 lack of skin elasticity 58 31 hallmark (90%) Very frequent (99-80%) HP:0100679
9 narrow mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000160
10 cachexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0004326
11 aplasia/hypoplasia of the skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0008065
12 convex nasal ridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000444
13 reduced subcutaneous adipose tissue 31 hallmark (90%) HP:0003758
14 type i diabetes mellitus 58 31 frequent (33%) Frequent (79-30%) HP:0100651
15 reduced bone mineral density 58 31 frequent (33%) Frequent (79-30%) HP:0004349
16 abnormality of skin pigmentation 58 31 frequent (33%) Frequent (79-30%) HP:0001000
17 premature graying of hair 58 31 frequent (33%) Frequent (79-30%) HP:0002216
18 abnormality of the upper limb 58 31 frequent (33%) Frequent (79-30%) HP:0002817
19 atherosclerosis 58 31 frequent (33%) Frequent (79-30%) HP:0002621
20 hyperlipoproteinemia 58 31 frequent (33%) Frequent (79-30%) HP:0010980
21 lipodystrophy 58 31 Very frequent (99-80%) HP:0009125
22 weight loss 58 Very frequent (99-80%)
23 abnormality of the thorax 58 Frequent (79-30%)
24 thin skin 31 HP:0000963
25 thickened skin 58 Very frequent (99-80%)
26 abnormality of lipid metabolism 58 Frequent (79-30%)
27 abnormality of the face 58 Very frequent (99-80%)
28 abnormality of the hair 58 Frequent (79-30%)
29 abnormality of the lower limb 58 Frequent (79-30%)
30 scleroderma 31 HP:0100324
31 insulin-resistant diabetes mellitus 31 HP:0000831
32 plantar hyperkeratosis 31 HP:0007556
33 dermal atrophy 31 HP:0004334
34 decreased subcutaneous fat 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

56
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, Interleukin 1 Beta, 6, 8, 10, 12 and Tumor Necrosis Factor Alpha in Burned Patients. 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:

40
Skin, Bone

Publications for Growth Factors, Combined Defect of

Articles related to Growth Factors, Combined Defect of:

# Title Authors PMID Year
1
A new familial syndrome with impaired function of three related peptide growth factors. 56
2477323 1989
2
[Werner syndrome-like disease in 3 brothers. Differential diagnosis of progeria syndrome]. 56
7152896 1982

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
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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