MCID: ACR037
MIFTS: 21

Acromegaloid Facial Appearance Syndrome malady

Categories: Rare diseases, Fetal diseases, Oral diseases

Aliases & Classifications for Acromegaloid Facial Appearance Syndrome

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Sources:
31ICD10 via Orphanet, 40MESH via Orphanet, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Acromegaloid Facial Appearance Syndrome:

Name: Acromegaloid Facial Appearance Syndrome 52 48 54 68
Thick Lips and Oral Mucosa 48
 
Afa Syndrome 48

Characteristics:

Orphanet epidemiological data:

54
acromegaloid facial appearance syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal

HPO:

64
acromegaloid facial appearance syndrome:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 102150
Orphanet54 ORPHA965
MESH via Orphanet40 C535655
UMLS via Orphanet69 C0796280
ICD10 via Orphanet31 Q87.0

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:52 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 syndrome11.3
2antiphospholipid syndrome11.1
3ameloonychohypohidrotic syndrome9.5ABCC9, TBX15

Symptoms & Phenotypes for Acromegaloid Facial Appearance Syndrome

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Symptoms by clinical synopsis from OMIM:

102150

Clinical features from OMIM:

102150

Human phenotypes related to Acromegaloid Facial Appearance Syndrome:

 64 54 (show all 33)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the tongue64 54 hallmark (90%) Very frequent (99-80%) HP:0000157
2 thick lower lip vermilion64 54 hallmark (90%) Very frequent (99-80%) HP:0000179
3 gingival overgrowth64 54 hallmark (90%) Very frequent (99-80%) HP:0000212
4 everted lower lip vermilion64 54 hallmark (90%) Very frequent (99-80%) HP:0000232
5 coarse facial features64 54 hallmark (90%) Very frequent (99-80%) HP:0000280
6 hypertelorism64 54 hallmark (90%) Very frequent (99-80%) HP:0000316
7 abnormality of the nasal alae64 hallmark (90%) HP:0000429
8 blepharophimosis64 54 hallmark (90%) Very frequent (99-80%) HP:0000581
9 large hands64 54 hallmark (90%) Very frequent (99-80%) HP:0001176
10 joint hypermobility64 hallmark (90%) HP:0001382
11 abnormal nasal morphology64 hallmark (90%) HP:0005105
12 palpebral edema64 54 hallmark (90%) Very frequent (99-80%) HP:0100540
13 sloping forehead64 54 typical (50%) Frequent (79-30%) HP:0000340
14 micrognathia64 54 typical (50%) Frequent (79-30%) HP:0000347
15 thick eyebrow64 54 typical (50%) Frequent (79-30%) HP:0000574
16 synophrys64 54 typical (50%) Frequent (79-30%) HP:0000664
17 thickened skin64 54 typical (50%) Frequent (79-30%) HP:0001072
18 abnormality of the metacarpal bones64 54 typical (50%) Frequent (79-30%) HP:0001163
19 highly arched eyebrow64 54 typical (50%) Frequent (79-30%) HP:0002553
20 craniofacial hyperostosis64 54 typical (50%) Frequent (79-30%) HP:0004493
21 cognitive impairment64 typical (50%) HP:0100543
22 tapered finger64 54 occasional (7.5%) Occasional (29-5%) HP:0001182
23 seizures64 54 occasional (7.5%) Occasional (29-5%) HP:0001250
24 abnormality of the mouth64 HP:0000153
25 bulbous nose64 54 Very frequent (99-80%) HP:0000414
26 intellectual disability, mild64 54 Frequent (79-30%) HP:0001256
27 specific learning disability64 HP:0001328
28 large for gestational age64 HP:0001520
29 macroglossia54 Very frequent (99-80%)
30 abnormality of the lip54 Very frequent (99-80%)
31 long nose54 Very frequent (99-80%)
32 joint hyperflexibility54 Very frequent (99-80%)
33 thick nasal alae54 Very frequent (99-80%)

MGI Mouse Phenotypes related to Acromegaloid Facial Appearance Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053699.1ABCC9, TBX15

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:

36
Tongue, Skin, Bone

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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet