MCID: ACR037
MIFTS: 26

Acromegaloid Facial Appearance Syndrome malady

Rare diseases, Fetal diseases, Oral diseases categories

Summaries for Acromegaloid Facial Appearance Syndrome

About this section
Sources:
48OMIM, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
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:48 102150

Aliases & Classifications for Acromegaloid Facial Appearance Syndrome

About this section
Sources:
44NIH Rare Diseases, 50Orphanet, 48OMIM, 63UMLS, 37MESH via Orphanet, 27ICD10 via Orphanet, 64UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

50
acromegaloid facial appearance syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

acromegaloid facial appearance syndrome 44 50 48 63
thick lips and oral mucosa 44
afa syndrome 44


External Ids:

OMIM48 102150
MESH via Orphanet37 C535655
ICD10 via Orphanet27 Q87.0
UMLS via Orphanet64 C0796280

Related Diseases for Acromegaloid Facial Appearance Syndrome

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

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

About this section
Sources:
48OMIM, 50Orphanet
See all sources

Symptoms by clinical synopsis from OMIM:

102150

Clinical features from OMIM:

102150

Symptoms:

50 (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

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
See all sources

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

About this section

Anatomical Context for Acromegaloid Facial Appearance Syndrome

About this section
Sources:
34MalaCards
See all sources

MalaCards organs/tissues related to Acromegaloid Facial Appearance Syndrome:

34
Tongue, Skin

Animal Models for Acromegaloid Facial Appearance Syndrome or affiliated genes

About this section
Sources:
38MGI
See all sources

MGI Mouse Phenotypes related to Acromegaloid Facial Appearance Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107689.1TBX15, ABCC9
2MP:00053699.0TBX15, ABCC9
3MP:00053788.8TBX15, ABCC9

Publications for Acromegaloid Facial Appearance Syndrome

About this section
Sources:
53PubMed
See all sources

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

About this section

Expression for genes affiliated with Acromegaloid Facial Appearance Syndrome

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
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

About this section

Compounds for genes affiliated with Acromegaloid Facial Appearance Syndrome

About this section

GO Terms for genes affiliated with Acromegaloid Facial Appearance Syndrome

About this section

Products for genes affiliated with Acromegaloid Facial Appearance Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Acromegaloid Facial Appearance Syndrome

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet