MCID: ACR037
MIFTS: 27

Acromegaloid Facial Appearance Syndrome malady

Rare diseases, Fetal diseases, Oral diseases categories
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Summaries for Acromegaloid Facial Appearance Syndrome

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MalaCards based summary: Acromegaloid Facial Appearance Syndrome, also known as afa syndrome, is related to hypertrichosis-acromegaloid facial appearence syndrome and acromegaloid hypertrichosis syndrome, and has symptoms including coarse face, hypertelorism and blepharophimosis/short palpebral fissures. An important gene associated with Acromegaloid Facial Appearance Syndrome is ABCC9 (ATP-binding cassette, sub-family C (CFTR/MRP), member 9). Affiliated tissues include skin and tongue, and related mouse phenotypes are mortality/aging and muscle.

Description from OMIM:46 102150

Aliases & Classifications for Acromegaloid Facial Appearance Syndrome

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Sources:
42NIH Rare Diseases, 48Orphanet, 46OMIM, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Acromegaloid Facial Appearance Syndrome, Aliases & Descriptions:

Name: Acromegaloid Facial Appearance Syndrome 42 48 46 62
Afa Syndrome 42 62
 
Thick Lips and Oral Mucosa 42


Classifications:

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


External Ids:

OMIM46 102150
MESH via Orphanet35 C535655
ICD10 via Orphanet26 Q87.0
UMLS via Orphanet63 C0796280

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/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1hypertrichosis-acromegaloid facial appearence syndrome10.5
2acromegaloid hypertrichosis syndrome10.3

Symptoms for Acromegaloid Facial Appearance Syndrome

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Symptoms by clinical synopsis from OMIM:

102150

Clinical features from OMIM:

102150

Symptoms:

48 (show all 25)
  • coarse face
  • 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
  • hyperextensible joints/articular hyperlaxity
  • autosomal dominant inheritance
  • dense/thickened skull/calvarium/cranial/facial hyperostosis
  • 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

HPO human phenotypes related to Acromegaloid Facial Appearance Syndrome:

(show all 33)
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 autosomal dominant inheritance HP:0000006
25 abnormality of the mouth HP:0000153
26 bulbous nose HP:0000414
27 blepharophimosis HP:0000581
28 large hands HP:0001176
29 tapered finger HP:0001182
30 intellectual disability, mild HP:0001256
31 specific learning disability HP:0001328
32 large for gestational age HP:0001520
33 highly arched eyebrow HP:0002553

Drugs & Therapeutics for Acromegaloid Facial Appearance Syndrome

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Drug clinical trials:

Search ClinicalTrials for Acromegaloid Facial Appearance Syndrome

Search 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:

32
Skin, Tongue

Animal Models for Acromegaloid Facial Appearance Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Acromegaloid Facial Appearance Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107689.1TBX15, ABCC9
2MP:00053699.0TBX15, ABCC9
3MP:00053788.8TBX15, ABCC9

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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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet