Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandCollagen Diseases (D003095)
Parent Node:
expandNeoplastic Syndromes, Hereditary (D009386)
Parent Node:
expandSkin Neoplasms (D012878)
..Starting node
..expandCollagenoma, Familial Cutaneous (C562925)

       Child Nodes:



 Sister Nodes: 
..expandAbdominal chemodectomas with cutaneous angiolipomas (C535552)
..expandAcanthoma (D049309)
..expandBazex-Dupre-Christol syndrome (C537663)
..expandBecker Nevus Syndrome (C565735)
..expandBlue rubber bleb nevus syndrome (C536240)
..expandCalcifying Epithelial Odontogenic Tumor (C537961)
..expandCardiomyopathy hypogonadism collagenoma syndrome (C535582)
..expandCollagenoma, Familial Cutaneous (C562925)
..expandDavenport Donlan syndrome (C535988)
..expandDermatopathia pigmentosa reticularis (C535374)
..expandFamilial cylindromatosis (C536611)
..expandFamilial multiple trichodiscomas (C536847)
..expandFanconi like syndrome (C536855)
..expandGiant pigmented hairy nevus (C536819)
..expandHamartoma, Precalcaneal Congenital Fibrolipomatous (C565226)
..expandHistiocytosis, Progressive Mucinous (C564186)
..expandMELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1 (OMIM:155600)
..expandMELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 (OMIM:155601)
..expandMELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 (OMIM:609048)
..expandMELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 4 (OMIM:608035)
..expandMELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5 (OMIM:613099)
..expandMELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 7 (OMIM:612263)
..expandMELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 (OMIM:614456)
..expandNevus, Epidermal (C562736)
..expandPALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL (OMIM:610644)
..expandPalmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal (C565693)
..expandPapillomatosis, Familial Cutaneous (C566832)
..expandPhacomatosis pigmentokeratotica (C537893)
..expandReactive angioendotheliomatosis (C535293)
..expandReed's syndrome (C535516)
..expandRombo syndrome (C535870)
..expandSchwannomatosis (C536641)
..expandSclerotylosis (C537526)
..expandSebaceous Gland Neoplasms (D012626) Child2
..expandSweat Gland Neoplasms (D013544)
..expandTrichoepithelioma, Multiple Familial, 2 (C567418)
..expandTrichoepitheliomas, Multiple Desmoplastic (C566034)
..expandTrichofolliculoma (C536553)
..expandTufted angioma (C536924)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:2481
Name:Collagenoma, Familial Cutaneous
Definition:
Alternative IDs:
ParentIDs:MESH:D003095|MESH:D009386|MESH:D012878
TreeNumbers:C04.588.805/C562925 |C04.700/C562925 |C16.320.700/C562925 |C17.300.200/C562925 |C17.800.882/C562925
Synonyms:
Slim Mappings:Cancer|Connective tissue disease|Genetic disease (inborn)|Skin disease
Reference: MedGen: C562925
MeSH: C562925
OMIM: 115250;

Genes:
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0005110Atrial fibrillation
3 HP:0001638Cardiomyopathy
4 HP:0007534Congenital posterior occipital alopecia
5 HP:0001635Congestive heart failure
6 HP:0001089Iris atrophy
7 HP:0008720Primary testicular failure
8 HP:0011663Right ventricular cardiomyopathy
9 HP:0000407Sensorineural hearing impairment
10 HP:0005180Tricuspid regurgitation
11 HP:0002633Vasculitis
Disease Causing ClinVar Variants