MCID: FCS005
MIFTS: 29

Faces Syndrome malady

Skin diseases category

Summaries for Faces Syndrome

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Sources:
42NIH Rare Diseases, 63Wikipedia, 32MalaCards
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NIH Rare Diseases:42 Faces syndrome, also known as friedman-goodman syndrome, is a condition that is characterized by unique facial features, anorexia, cachexia (body wasting) and eye and skin lesions. the pattern of inheritance and underlying genetic cause of faces syndrome has not yet been established. faces syndrome has only been reported in three members of the same family. last updated: 7/6/2011

MalaCards: Faces Syndrome, also known as friedman-goodman syndrome, is related to velocardiofacial syndrome and digeorge syndrome, and has symptoms including mitral valve prolapse/incompetence/insufficiency/regurgitation/ring anomaly, cafe-au-lait spot and genu varum. An important gene associated with Faces Syndrome is DGCR14 (DiGeorge syndrome critical region gene 14). Affiliated tissues include skin, eye and thyroid.

Wikipedia:63 FACES syndrome is a syndrome of unique facial features, anorexia, cachexia, eye and skin anomalies. more...

Aliases & Classifications for Faces Syndrome

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42NIH Rare Diseases, 48Orphanet, 60UMLS, 61UMLS via Orphanet, 35MESH via Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Skin diseases


Aliases & Descriptions:

faces syndrome 42 48
friedman-goodman syndrome 42 48
facial features , anorexia, cachexia, eye and skin anomalies 42
acrocephalopolysyndactyly type iv 60
friedman goodman syndrome 42


External Ids:

UMLS via Orphanet61 C2931183
MESH via Orphanet35 C536384
ICD10 via Orphanet26 Q87.0

Related Diseases for Faces Syndrome

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Faces Syndrome:



Diseases related to faces syndrome

Clinical Features for Faces Syndrome

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48Orphanet
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Symptoms:

48 (show all 21)
  • mitral valve prolapse/incompetence/insufficiency/regurgitation/ring anomaly
  • cafe-au-lait spot
  • genu varum
  • diffuse/generalised skin hypopigmentation/cutaneous albinism
  • thyroid anomalies
  • asymmetric rib cage/thorax
  • short palate
  • bifid tip/cleft nose/supernumerary nose
  • wasted (excluding lipodystrophy)/poorly muscled build/cachexy
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • syndactyly of fingers/interdigital palm
  • scoliosis
  • ptosis
  • kyphosis
  • autosomal dominant inheritance
  • pigmented naevi/naevus pigmentosus/lentigo
  • retinitis pigmentosa/retinal pigmentary changes
  • anteverted nares/nostrils
  • short stature/dwarfism/nanism
  • abnormal cry/voice/phonation disorder/nasal speech
  • pectus excavatum

Drugs & Therapeutics for Faces Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Faces Syndrome

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Anatomical Context for Faces Syndrome

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32MalaCards
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MalaCards organs/tissues related to Faces Syndrome:

32
Skin, Eye, Thyroid

Animal Models for Faces Syndrome or affiliated genes

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Publications for Faces Syndrome

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Genetic Variations for Faces Syndrome

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Expression for genes affiliated with Faces Syndrome

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Faces Syndrome

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Pathways for genes affiliated with Faces Syndrome

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Compounds for genes affiliated with Faces Syndrome

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GO Terms for genes affiliated with Faces Syndrome

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Products for genes affiliated with Faces Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Faces Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet