MCID: ACR037
MIFTS: 22

Acromegaloid Facial Appearance Syndrome malady

Categories: Rare diseases, Fetal diseases, Oral diseases

Aliases & Classifications for Acromegaloid Facial Appearance Syndrome

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Sources:
50OMIM, 46NIH Rare Diseases, 52Orphanet, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Acromegaloid Facial Appearance Syndrome:

Name: Acromegaloid Facial Appearance Syndrome 50 46 52 66
Thick Lips and Oral Mucosa 46
 
Afa Syndrome 46

Characteristics:

Orphanet epidemiological data:

52
acromegaloid facial appearance syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal

HPO:

62
acromegaloid facial appearance syndrome:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 102150
Orphanet52 ORPHA965
ICD10 via Orphanet29 Q87.0
MESH via Orphanet38 C535655
UMLS via Orphanet67 C0796280

Summaries for Acromegaloid Facial Appearance Syndrome

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MalaCards based summary: Acromegaloid Facial Appearance Syndrome, also known as thick lips and oral mucosa, is related to acromegaloid hypertrichosis syndrome and antiphospholipid syndrome, and has symptoms including abnormality of the tongue, thick lower lip vermilion and gingival overgrowth. An important gene associated with Acromegaloid Facial Appearance Syndrome is ABCC9 (ATP Binding Cassette Subfamily C Member 9). Affiliated tissues include tongue, skin and bone, and related mouse phenotype muscle.

Description from OMIM:50 102150

Related Diseases for Acromegaloid Facial Appearance Syndrome

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Diseases related to Acromegaloid Facial Appearance Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1acromegaloid hypertrichosis syndrome11.4
2antiphospholipid syndrome11.2
3ameloonychohypohidrotic syndrome9.5ABCC9, TBX15

Symptoms for Acromegaloid Facial Appearance Syndrome

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Symptoms by clinical synopsis from OMIM:

102150

Clinical features from OMIM:

102150

Symptoms:

 52 (show all 26)
  • abnormality of the tongue
  • macroglossia
  • abnormality of the lip
  • thick lower lip vermilion
  • gingival overgrowth
  • everted lower lip vermilion
  • coarse facial features
  • hypertelorism
  • sloping forehead
  • micrognathia
  • bulbous nose
  • thick eyebrow
  • blepharophimosis
  • synophrys
  • thickened skin
  • abnormality of the metacarpal bones
  • large hands
  • tapered finger
  • seizures
  • intellectual disability, mild
  • highly arched eyebrow
  • long nose
  • craniofacial hyperostosis
  • joint hyperflexibility
  • thick nasal alae
  • palpebral edema

HPO human phenotypes related to Acromegaloid Facial Appearance Syndrome:

(show all 32)
id Description Frequency HPO Source Accession
1 abnormality of the tongue hallmark (90%) HP:0000157
2 thick lower lip vermilion hallmark (90%) HP:0000179
3 gingival overgrowth hallmark (90%) HP:0000212
4 everted lower lip vermilion hallmark (90%) HP:0000232
5 coarse facial features hallmark (90%) HP:0000280
6 hypertelorism hallmark (90%) HP:0000316
7 abnormality of the nasal alae hallmark (90%) HP:0000429
8 blepharophimosis hallmark (90%) HP:0000581
9 large hands hallmark (90%) HP:0001176
10 joint hypermobility hallmark (90%) HP:0001382
11 abnormal nasal morphology hallmark (90%) HP:0005105
12 palpebral edema hallmark (90%) HP:0100540
13 sloping forehead typical (50%) HP:0000340
14 micrognathia typical (50%) HP:0000347
15 thick eyebrow typical (50%) HP:0000574
16 synophrys typical (50%) HP:0000664
17 thickened skin typical (50%) HP:0001072
18 abnormality of the metacarpal bones typical (50%) HP:0001163
19 highly arched eyebrow typical (50%) HP:0002553
20 craniofacial hyperostosis typical (50%) HP:0004493
21 cognitive impairment typical (50%) HP:0100543
22 tapered finger occasional (7.5%) HP:0001182
23 seizures occasional (7.5%) HP:0001250
24 abnormality of the mouth HP:0000153
25 bulbous nose HP:0000414
26 blepharophimosis HP:0000581
27 large hands HP:0001176
28 tapered finger HP:0001182
29 intellectual disability, mild HP:0001256
30 specific learning disability HP:0001328
31 large for gestational age HP:0001520
32 highly arched eyebrow HP:0002553

Drugs & Therapeutics for Acromegaloid Facial Appearance Syndrome

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Interventional clinical trials:

Search ClinicalTrials, 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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MalaCards organs/tissues related to Acromegaloid Facial Appearance Syndrome:

34
Tongue, Skin, Bone

Animal Models for Acromegaloid Facial Appearance Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Acromegaloid Facial Appearance Syndrome:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053699.1ABCC9, TBX15

Publications for Acromegaloid Facial Appearance Syndrome

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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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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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GO Terms for genes affiliated with Acromegaloid Facial Appearance Syndrome

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Sources for Acromegaloid Facial Appearance Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet