MCID: ACR037
MIFTS: 26

Acromegaloid Facial Appearance Syndrome malady

Rare diseases, Fetal diseases, Oral diseases categories
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Summaries for Acromegaloid Facial Appearance Syndrome

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47OMIM, 33MalaCards
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MalaCards: Acromegaloid Facial Appearance Syndrome, also known as thick lips and oral mucosa, is related to acromegaloid hypertrichosis syndrome, and has symptoms including protruding lips, thick skin/pachydermia/orange skin and puffy eyelids. An important gene associated with Acromegaloid Facial Appearance Syndrome is ABCC9 (ATP-binding cassette, sub-family C (CFTR/MRP), member 9). Affiliated tissues include tongue and skin, and related mouse phenotypes are mortality/aging and muscle.

Description from OMIM:47 102150

Aliases & Classifications for Acromegaloid Facial Appearance Syndrome

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Sources:
43NIH Rare Diseases, 49Orphanet, 47OMIM, 62UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases, Fetal diseases
Anatomical: Oral diseases


Characteristics (Orphanet epidemiological data):

49
acromegaloid facial appearance syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

acromegaloid facial appearance syndrome 43 49 47 62
thick lips and oral mucosa 43
afa syndrome 43


External Ids:

OMIM47 102150
MESH via Orphanet36 C535655
ICD10 via Orphanet26 Q87.0
UMLS via Orphanet63 C0796280

Related Diseases for Acromegaloid Facial Appearance Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Acromegaloid Facial Appearance Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1acromegaloid hypertrichosis syndrome10.3

Symptoms for Acromegaloid Facial Appearance Syndrome

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Sources:
47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

102150

Clinical features from OMIM:

102150

Symptoms:

49 (show all 25)
  • protruding lips
  • thick skin/pachydermia/orange skin
  • puffy eyelids
  • high arched eyebrows
  • blepharophimosis/short palpebral fissures
  • synophris/synophrys
  • large hand
  • tapered fingers
  • sloping forehead
  • hamartoma/tumefaction of the tongue/gingivae/oral mucosa
  • long/large/bulbous nose
  • hyperextensible joints/articular hyperlaxity
  • flared/thick ala nasi
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • autosomal dominant inheritance
  • dense/thickened skull/calvarium/cranial/facial hyperostosis
  • coarse face
  • macroglossia/tongue protrusion/proeminent/hypertrophic
  • thickened/hypertrophic/fibromatous gingivae
  • thick lips
  • thick/bushy eyebrows
  • micrognathia/retrognathia/micrognathism/retrognathism
  • metacarpal anomalies/archibald's sign
  • hypertelorism

Drugs & Therapeutics for Acromegaloid Facial Appearance Syndrome

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Acromegaloid Facial Appearance Syndrome

Search NIH Clinical Center for Acromegaloid Facial Appearance Syndrome

Genetic Tests for Acromegaloid Facial Appearance Syndrome

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Anatomical Context for Acromegaloid Facial Appearance Syndrome

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33MalaCards
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MalaCards organs/tissues related to Acromegaloid Facial Appearance Syndrome:

33
Tongue, Skin

Animal Models for Acromegaloid Facial Appearance Syndrome or affiliated genes

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Sources:
37MGI
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MGI Mouse Phenotypes related to Acromegaloid Facial Appearance Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107689.1TBX15, ABCC9
2MP:00053699.0TBX15, ABCC9
3MP:00053788.8TBX15, ABCC9

Publications for Acromegaloid Facial Appearance Syndrome

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52PubMed
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Articles related to Acromegaloid Facial Appearance Syndrome:

idTitleAuthorsYear
1
Acromegaloid facial appearance syndrome: a further case report. (15365463)
2004
2
A new case of the acromegaloid facial appearance syndrome? (9546838)
1998

Variations for Acromegaloid Facial Appearance Syndrome

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Expression for genes affiliated with Acromegaloid Facial Appearance Syndrome

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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Acromegaloid Facial Appearance Syndrome

Search GEO for disease gene expression data for Acromegaloid Facial Appearance Syndrome.

Pathways for genes affiliated with Acromegaloid Facial Appearance Syndrome

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Compounds for genes affiliated with Acromegaloid Facial Appearance Syndrome

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GO Terms for genes affiliated with Acromegaloid Facial Appearance Syndrome

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Products for genes affiliated with Acromegaloid Facial Appearance Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Acromegaloid Facial Appearance Syndrome

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet