Familial cutaneous collagenoma

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 25
OrphanetNr: 53296
OMIM Id: 115250
ICD-10: L94.8
UMLs: C0406817
MeSH:
MedDRA:
Snomed: 239139000

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic dermis elastic tissue disorder
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
(HPO:0008720) Primary testicular failure 2 / 7739
2
(HPO:0008053) Aplasia/Hypoplasia of the iris Occasional [Orphanet] 38 / 7739
3
(HPO:0001089) Iris atrophy 8 / 7739
4
(HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
5
(HPO:0000407) Sensorineural hearing impairment 524 / 7739
6
(HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
7
(HPO:0008373) Puberty and gonadal disorders Occasional [Orphanet] 156 / 7739
8
(HPO:0007534) Congenital posterior occipital alopecia 1 / 7739
9
(HPO:0001000) Abnormality of skin pigmentation Frequent [Orphanet] 105 / 7739
10
(HPO:0001031) Subcutaneous lipoma Very frequent [Orphanet] 112 / 7739
11
(HPO:0012089) Arteritis Occasional [Orphanet] 40 / 7739
12
(HPO:0005110) Atrial fibrillation 71 / 7739
13
(HPO:0005180) Tricuspid regurgitation 20 / 7739
14
(HPO:0011663) Right ventricular cardiomyopathy 17 / 7739
15
(HPO:0002633) Vasculitis 12 / 7739
16
(HPO:0001677) Coronary artery disease Occasional [Orphanet] 58 / 7739
17
(HPO:0001638) Cardiomyopathy Occasional [Orphanet] 192 / 7739
18
(HPO:0001635) Congestive heart failure Occasional [Orphanet] 232 / 7739
19
(HPO:0002901) Hypocalcemia Occasional [Orphanet] 56 / 7739
20
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
21
(HPO:0001522) Death in infancy Occasional [Orphanet] 275 / 7739
22
(OMIM) Cutaneous collagenomas 1 / 7739
23
(OMIM) Recurrent vasculitis 1 / 7739
24
(OMIM) Chronic congestive heart failure 1 / 7739
25
(HPO:0030350) Erythematous papule Very frequent [Orphanet] 123 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Henderson et al. (1968) described 3 brothers with numerous skin nodules on the back. These consisted of thickened dermis due to increased collagenous tissue. One brother had idiopathic myocardiopathy, a second had atrophy of the left iris and ...