Hypotrichosis - lymphedema - telangiectasia

General Information (adopted from Orphanet):

Synonyms, Signs: HLTS
Number of Symptoms 41
OrphanetNr: 69735
OMIM Id: 607823
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 4 cases [Orphanet]
Inheritance: Autosomal dominant
Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Syndromic lymphedema
 -Rare circulatory system disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0000045) Abnormality of the scrotum Frequent [Orphanet] 14 / 7739
2
 (HPO:0100673) Vaginal hydrocele 8 / 7739
3
 (HPO:0000034) Hydrocele testis 18 / 7739
4
 (HPO:0002223) Absent eyebrow 21 / 7739
5
 (HPO:0000164) Abnormality of the teeth 291 / 7739
6
 (HPO:0100540) Palpebral edema 31 / 7739
7
 (HPO:0100840) Aplasia/Hypoplasia of the eyebrow Very frequent [Orphanet] 117 / 7739
8
 (HPO:0000629) Periorbital fullness 13 / 7739
9
 (HPO:0000561) Absent eyelashes 18 / 7739
10
 (HPO:0000606) Abnormality of the periorbital region Frequent [Orphanet] 96 / 7739
11
 (HPO:0100539) Periorbital edema 8 / 7739
12
 (HPO:0100869) Palmar telangiectasia 3 / 7739
13
 (HPO:0001789) Hydrops fetalis Occasional [Orphanet] 63 / 7739
14
 (HPO:0001790) Nonimmune hydrops fetalis 15 / 7739
15
 (HPO:0002585) Abnormality of the peritoneum Occasional [Orphanet] 9 / 7739
16
 (HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
17
 (HPO:0001052) Nevus flammeus Occasional [Orphanet] 88 / 7739
18
 (HPO:0000965) Cutis marmorata Frequent [Orphanet] 46 / 7739
19
 (HPO:0002225) Sparse pubic hair Very frequent [Orphanet] 76 / 7739
20
 (HPO:0100585) Telangiectasia of the skin Very frequent [Orphanet] 66 / 7739
21
 (HPO:0000963) Thin skin 96 / 7739
22
 (HPO:0001596) Alopecia Very frequent [Orphanet] 162 / 7739
23
 (HPO:0001009) Telangiectasia 46 / 7739
24
 (HPO:0001597) Abnormality of the nail 115 / 7739
25
 (HPO:0005293) Venous insufficiency Frequent [Orphanet] 27 / 7739
26
 (HPO:0001004) Lymphedema Very frequent [Orphanet] 62 / 7739
27
 (HPO:0003550) Predominantly lower limb lymphedema 5 / 7739
28
 (HPO:0010741) Edema of the lower limbs Very frequent [Orphanet] 34 / 7739
29
 (HPO:0002103) Abnormality of the pleura Occasional [Orphanet] 58 / 7739
30
 (HPO:0100764) Lymphangioma Very frequent [Orphanet] 11 / 7739
31
 (OMIM) Normal scalp hair at birth, then progressive hair loss 1 / 7739
32
 (OMIM) Scrotal edema 1 / 7739
33
 (OMIM) Lower limb lymphedema (variable onset, age four to teens) 1 / 7739
34
 (OMIM) Normal sweating 13 / 7739
35
 (HPO:0030350) Erythematous papule Frequent [Orphanet] 123 / 7739
36
 (OMIM) Thin, transparent skin (hands and feet) 1 / 7739
37
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
38
 (OMIM) Absent eyebrows and eyelashes 2 / 7739
39
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
40
 (OMIM) Normal nails 15 / 7739
41
 (OMIM) Normal teeth 15 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Irrthum et al. (2003) described 3 families with an unusual association of hypotrichosis, lymphedema, and telangiectasia. In the first family, previously reported by Devriendt et al. (2002), a boy and girl, offspring of first-cousin Belgian parents, were affected. ...
Molecular genetics OMIM In each of the 3 HLTS families they described, Irrthum et al. (2003) identified a mutation in the SOX18 gene. In the first and second families, both consanguineous, they identified homozygosity for the mutations ala104 to pro (A104P; ...