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:
30ICD10 via Orphanet, 39MESH via Orphanet, 47NIH Rare Diseases, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Acromegaloid Facial Appearance Syndrome:

Name: Acromegaloid Facial Appearance Syndrome 51 47 53 67
Thick Lips and Oral Mucosa 47
 
Afa Syndrome 47

Characteristics:

Orphanet epidemiological data:

53
acromegaloid facial appearance syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal

HPO:

63
acromegaloid facial appearance syndrome:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 102150
Orphanet53 ORPHA965
MESH via Orphanet39 C535655
UMLS via Orphanet68 C0796280
ICD10 via Orphanet30 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:51 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 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:

 63 53 (show all 33)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the tongue63 53 hallmark (90%) Very frequent (99-80%) HP:0000157
2 thick lower lip vermilion63 53 hallmark (90%) Very frequent (99-80%) HP:0000179
3 gingival overgrowth63 53 hallmark (90%) Very frequent (99-80%) HP:0000212
4 everted lower lip vermilion63 53 hallmark (90%) Very frequent (99-80%) HP:0000232
5 coarse facial features63 53 hallmark (90%) Very frequent (99-80%) HP:0000280
6 hypertelorism63 53 hallmark (90%) Very frequent (99-80%) HP:0000316
7 abnormality of the nasal alae63 hallmark (90%) HP:0000429
8 blepharophimosis63 53 hallmark (90%) Very frequent (99-80%) HP:0000581
9 large hands63 53 hallmark (90%) Very frequent (99-80%) HP:0001176
10 joint hypermobility63 hallmark (90%) HP:0001382
11 abnormal nasal morphology63 hallmark (90%) HP:0005105
12 palpebral edema63 53 hallmark (90%) Very frequent (99-80%) HP:0100540
13 sloping forehead63 53 typical (50%) Frequent (79-30%) HP:0000340
14 micrognathia63 53 typical (50%) Frequent (79-30%) HP:0000347
15 thick eyebrow63 53 typical (50%) Frequent (79-30%) HP:0000574
16 synophrys63 53 typical (50%) Frequent (79-30%) HP:0000664
17 thickened skin63 53 typical (50%) Frequent (79-30%) HP:0001072
18 abnormality of the metacarpal bones63 53 typical (50%) Frequent (79-30%) HP:0001163
19 highly arched eyebrow63 53 typical (50%) Frequent (79-30%) HP:0002553
20 craniofacial hyperostosis63 53 typical (50%) Frequent (79-30%) HP:0004493
21 cognitive impairment63 typical (50%) HP:0100543
22 tapered finger63 53 occasional (7.5%) Occasional (29-5%) HP:0001182
23 seizures63 53 occasional (7.5%) Occasional (29-5%) HP:0001250
24 abnormality of the mouth63 HP:0000153
25 bulbous nose63 53 Very frequent (99-80%) HP:0000414
26 intellectual disability, mild63 53 Frequent (79-30%) HP:0001256
27 specific learning disability63 HP:0001328
28 large for gestational age63 HP:0001520
29 macroglossia53 Very frequent (99-80%)
30 abnormality of the lip53 Very frequent (99-80%)
31 long nose53 Very frequent (99-80%)
32 joint hyperflexibility53 Very frequent (99-80%)
33 thick nasal alae53 Very frequent (99-80%)

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:

35
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:

40
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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet