Xanthomatosis

Symptom Information:

Symptom ID: HPO:0000991
Synonyms:
Xanthomata [HPO:0000991]
Xanthoma [Orphanet:23700]
Xanthomatous deposition (morphologic abnormality) [Orphanet:23700]
Xanthomata [OMIM:Xanthomata]
Xanthomas/lipomas [Orphanet:23700]
Xanthelasma [Orphanet:23700]
Xanthoma [MedDRA:10048214]
Eruptive xanthoma [MedDRA:10048214]
Planar xanthoma [MedDRA:10048214]
Plane xanthoma [MedDRA:10048214]
Tendinous xanthoma [MedDRA:10048214]
Tendon xanthoma [MedDRA:10048214]
Tuberous xanthoma [MedDRA:10048214]
Tuberous xanthomata [MedDRA:10048214]
Xanthelasma [MedDRA:10048211]
Xanthelasma of eyelid [MedDRA:10048211]
Planar xanthomas (Detroit type 107680.0011) [OMIM:Planar xanthomas (Detroit type 107680.0011)]
Tendinous xanthomas [OMIM:Tendinous xanthomas]
Tendon xanthomas (Achilles tendon, tibial tuberosity) [OMIM:Tendon xanthomas (Achilles tendon, tibial tuberosity)]
Tuberous xanthoma [OMIM:Tuberous xanthoma]
Xanthelasmata [OMIM:Xanthelasmata]
Xanthoma [OMIM:Xanthoma]
Xanthomas [OMIM:Xanthomas]
Xanthomas (in some patients) [OMIM:Xanthomas (in some patients)]
Xanthomatosis (tuberous, tuberoeruptive, planar and/or tendon) [OMIM:Xanthomatosis (tuberous, tuberoeruptive, planar and/or tendon)]
Xanthomatosis [MedDRA:10048215]
Quality:
Cross references:
Orphanet:23700 "Xanthomas/lipomas" [Orphanet:23700]
OMIM: "Xanthomata" [OMIM:Xanthomata]
OMIM: "Planar xanthomas (Detroit type 107680.0011)" [OMIM:Planar xanthomas (Detroit type 107680.0011)]
OMIM: "Tendinous xanthomas" [OMIM:Tendinous xanthomas]
OMIM: "Tendon xanthomas (Achilles tendon, tibial tuberosity)" [OMIM:Tendon xanthomas (Achilles tendon, tibial tuberosity)]
OMIM: "Tuberous xanthoma" [OMIM:Tuberous xanthoma]
OMIM: "Xanthelasmata" [OMIM:Xanthelasmata]
OMIM: "Xanthoma" [OMIM:Xanthoma]
OMIM: "Xanthomas" [OMIM:Xanthomas]
OMIM: "Xanthomas (in some patients)" [OMIM:Xanthomas (in some patients)]
OMIM: "Xanthomatosis (tuberous, tuberoeruptive, planar and/or tendon)" [OMIM:Xanthomatosis (tuberous, tuberoeruptive, planar and/or tendon)]
UMLS:C0043325 "Xanthomatosis" [HPO:0000991]
UMLS:C0302314 "Xanthoma" [Orphanet:23700]
Is a (Direct Parents):
MedDRA Dermal and epidermal conditions NEC
MedDRA Lipid metabolism and deposit disorders NEC
Orphanet Neoplasm of the skin
HPO         Localized skin lesion
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the integument(HPO:0001574)
          Abnormality of the skin(HPO:0000951)
             Localized skin lesion(HPO:0011355)
                Xanthomatosis(HPO:0000991)
MedDRA:
Skin and subcutaneous tissue disorders(MedDRA:10040785)
    Epidermal and dermal conditions(MedDRA:10014982)
       Dermal and epidermal conditions NEC(MedDRA:10012424)
          Xanthomatosis(HPO:0000991)
Metabolism and nutrition disorders(MedDRA:10027433)
    Abnormality of lipid metabolism(HPO:0003119)
       Lipid metabolism and deposit disorders NEC(MedDRA:10024581)
          Xanthomatosis(HPO:0000991)
Congenital, familial and genetic disorders(MedDRA:10010331)
    Metabolic and nutritional disorders congenital(MedDRA:10027424)
       Abnormality of lipid metabolism(HPO:0003119)
          Lipid metabolism and deposit disorders NEC(MedDRA:10024581)
             Xanthomatosis(HPO:0000991)
Database Frequency: 16 / 7739
Resource:

All diseases associated with this symptom:

APOLIPOPROTEIN E (OMIM:107741)
Alagille syndrome due to 20p12 microdeletion (Orphanet:261600)
Alagille syndrome due to a JAG1 point mutation (Orphanet:261619)
Ataxia with vitamin E deficiency (Orphanet:96)
Cerebrotendinous xanthomatosis (Orphanet:909)
Familial partial lipodystrophy, Dunnigan type (Orphanet:2348)
Familial partial lipodystrophy, Köbberling type (Orphanet:79084)
GLYCOGEN STORAGE DISEASE Ic (OMIM:232240)
Glycogen storage disease due to glucose-6-phosphatase deficiency (Orphanet:364)
Glycogen storage disease due to glucose-6-phosphatase deficiency type a (Orphanet:79258)
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B (OMIM:144010)
MELAS (Orphanet:550)
MERRF (Orphanet:551)
Niemann-Pick disease type A (Orphanet:77292)
XANTHOMATOSIS, SUSCEPTIBILITY TO (OMIM:602247)
[DEL] GLYCOGEN STORAGE DISEASE Ib (OMIM:232220)