Lipodystrophy due to peptidic growth factors deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: INSULIN, INSULIN-LIKE GROWTH FACTOR I, AND EPIDERMAL GROWTH FACTOR DEFICIENCY
Hoepffner-Dreyer-Reimers syndrome
werner-like syndrome due to combined growth factor deficiency
Combined insulin, insulin-like growth factor 1 (IGF1) and epidermal growth factor (EGF) deficiency
Number of Symptoms 45
OrphanetNr: 1979
OMIM Id: 233805
ICD-10: E88.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Unknown
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic lipodystrophy
 -Rare endocrine disease
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0000347) Micrognathia 426 / 7739
2
 (HPO:0000444) Convex nasal ridge Very frequent [Orphanet] 87 / 7739
3
 (HPO:0000271) Abnormality of the face Very frequent [Orphanet] 108 / 7739
4
 (HPO:0000160) Narrow mouth Very frequent [Orphanet] 188 / 7739
5
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
6
 (HPO:0000831) Insulin-resistant diabetes mellitus 22 / 7739
7
 (HPO:0100651) Type I diabetes mellitus Frequent [Orphanet] 44 / 7739
8
 (HPO:0001763) Pes planus Very frequent [Orphanet] 176 / 7739
9
 (HPO:0004349) Reduced bone mineral density Frequent [Orphanet] 165 / 7739
10
 (HPO:0001371) Flexion contracture 220 / 7739
11
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
12
 (HPO:0000767) Pectus excavatum Very frequent [Orphanet] 244 / 7739
13
 (HPO:0000765) Abnormality of the thorax Frequent [Orphanet] 64 / 7739
14
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
15
 (HPO:0004326) Cachexia Very frequent [Orphanet] 71 / 7739
16
 (HPO:0000962) Hyperkeratosis Very frequent [Orphanet] 216 / 7739
17
 (HPO:0004334) Dermal atrophy 34 / 7739
18
 (HPO:0007556) Plantar hyperkeratosis 8 / 7739
19
 (HPO:0001072) Thickened skin Very frequent [Orphanet] 87 / 7739
20
 (HPO:0001006) Hypotrichosis Frequent [Orphanet] 219 / 7739
21
 (HPO:0000963) Thin skin 96 / 7739
22
 (HPO:0002216) Premature graying of hair Frequent [Orphanet] 43 / 7739
23
 (HPO:0001000) Abnormality of skin pigmentation Very frequent [Orphanet] 105 / 7739
24
 (HPO:0008065) Aplasia/Hypoplasia of the skin Very frequent [Orphanet] 81 / 7739
25
 (HPO:0001595) Abnormality of the hair Frequent [Orphanet] 89 / 7739
26
 (HPO:0100679) Lack of skin elasticity Very frequent [Orphanet] 29 / 7739
27
 (HPO:0002621) Atherosclerosis Frequent [Orphanet] 33 / 7739
28
 (HPO:0003119) Abnormality of lipid metabolism Frequent [Orphanet] 60 / 7739
29
 (HPO:0003394) Muscle cramps Very frequent [Orphanet] 106 / 7739
30
 (HPO:0003758) Reduced subcutaneous adipose tissue 27 / 7739
31
 (HPO:0100578) Lipoatrophy Very frequent [Orphanet] 30 / 7739
32
 (HPO:0009125) Lipodystrophy Very frequent [Orphanet] 54 / 7739
33
 (OMIM) Moderate plantar hyperkeratosis 1 / 7739
34
 (OMIM) Broad neurocranium 1 / 7739
35
 (OMIM) Yellowish spotted discolorations 1 / 7739
36
 (OMIM) Birdlike face 1 / 7739
37
 (OMIM) Scleroderma-like changes 2 / 7739
38
 (OMIM) Type IV hyperlipoproteinemia 1 / 7739
39
 (HPO:0040064) Abnormality of limbs Frequent [Orphanet] 16 / 7739
40
 (OMIM) Slight pectus excavatum 1 / 7739
41
 (OMIM) Pigmented areas of limbs and trunk 1 / 7739
42
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
43
 (OMIM) Moderate micrognathia 1 / 7739
44
 (OMIM) Taut, thin skin 1 / 7739
45
 (OMIM) Combined defect of insulin, insulinlike growth factor I and epidermal growth factor 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: