Glomerulonephritis - sparse hair - telangiectasis

General Information (adopted from Orphanet):

Synonyms, Signs: HAIRPATCHES,&#39
POSSIBLE HUMAN HOMOLOG OF MOUSE
TELANGIECTATIC MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS
&#39
Hpt, POSSIBLE HUMAN HOMOLOG OF
Number of Symptoms 26
OrphanetNr: 2087
OMIM Id: 137940
ICD-10:
UMLs: C1841989
MeSH: C536825
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 10 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Primary glomerular disease
 -Rare genetic disease
 -Rare renal disease

Symptom Information: Sort by abundance 

1
 (HPO:0000034) Hydrocele testis 18 / 7739
2
 (HPO:0000083) Renal insufficiency 232 / 7739
3
 (HPO:0000793) Membranoproliferative glomerulonephritis 8 / 7739
4
 (HPO:0000653) Sparse eyelashes 58 / 7739
5
 (HPO:0012471) Thick vermilion border 115 / 7739
6
 (HPO:0000303) Mandibular prognathia 179 / 7739
7
 (HPO:0002223) Absent eyebrow 21 / 7739
8
 (HPO:0000426) Prominent nasal bridge 121 / 7739
9
 (HPO:0003189) Long nose 20 / 7739
10
 (HPO:0000535) Sparse and thin eyebrow 76 / 7739
11
 (HPO:0000431) Wide nasal bridge 290 / 7739
12
 (HPO:0000300) Oval face 5 / 7739
13
 (HPO:0000561) Absent eyelashes 18 / 7739
14
 (HPO:0000286) Epicanthus 371 / 7739
15
 (HPO:0100540) Palpebral edema 31 / 7739
16
 (HPO:0008070) Sparse hair 94 / 7739
17
 (HPO:0005598) Facial telangiectasia in butterfly midface distribution 2 / 7739
18
 (HPO:0007621) Telangiectasia of extensor surfaces 1 / 7739
19
 (HPO:0003758) Reduced subcutaneous adipose tissue 27 / 7739
20
 (HPO:0001596) Alopecia 162 / 7739
21
 (HPO:0007543) Epidermal hyperkeratosis 2 / 7739
22
 (HPO:0001006) Hypotrichosis 219 / 7739
23
 (HPO:0003758) Reduced subcutaneous adipose tissue 27 / 7739
24
 (OMIM) Sparse eyebrows and eyelashes 4 / 7739
25
 (OMIM) Focal subendothelial electron-dense deposits of granular material in glomeruli 1 / 7739
26
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Sherwood et al. (1987) described an English family in which the father and his only son, aged 4 years, had an unusual association of uncommon facies, including telangiectasia in a butterfly distribution, similar skin lesions on extensor surfaces, ...