MCID: ACR037
MIFTS: 22

Acromegaloid Facial Appearance Syndrome malady

Fetal diseases, Oral diseases categories

Summaries for Acromegaloid Facial Appearance Syndrome

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46OMIM, 32MalaCards
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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 sloping forehead, micrognathia/retrognathia/micrognathism/retrognathism and thick/bushy eyebrows. 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 phenotype muscle.

Description from OMIM:46 102150

Aliases & Classifications for Acromegaloid Facial Appearance Syndrome

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Sources:
42NIH Rare Diseases, 48Orphanet, 46OMIM, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
acromegaloid facial appearance syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

acromegaloid facial appearance syndrome 42 48 46 60
thick lips and oral mucosa 42
afa syndrome 42


External Ids:

OMIM46 102150
MESH via Orphanet35 C535655
ICD10 via Orphanet26 Q87.0
UMLS via Orphanet61 C0796280

Related Diseases for Acromegaloid Facial Appearance Syndrome

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Sources:
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

Clinical Features for Acromegaloid Facial Appearance Syndrome

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

102150

Clinical synopsis from OMIM:

102150

Symptoms:

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

Drugs & Therapeutics for Acromegaloid Facial Appearance Syndrome

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

Search CenterWatch for Acromegaloid Facial Appearance Syndrome

Drug clinical trials:

Search ClinicalTrials for Acromegaloid Facial Appearance Syndrome

Search NIH Clinical Center for Acromegaloid Facial Appearance Syndrome

Search CenterWatch 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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Sources:
32MalaCards
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MalaCards organs/tissues related to Acromegaloid Facial Appearance Syndrome:

32
Tongue, Skin

Animal Models for Acromegaloid Facial Appearance Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Acromegaloid Facial Appearance Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053699.1ABCC9, TBX15

Publications for Acromegaloid Facial Appearance Syndrome

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Genetic Variations for Acromegaloid Facial Appearance Syndrome

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Expression for genes affiliated with Acromegaloid Facial Appearance Syndrome

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Sources:
1BioGPS, 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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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