MCID: ACR037
MIFTS: 22

Acromegaloid Facial Appearance Syndrome malady

Categories: Rare diseases, Fetal diseases, Oral diseases

Aliases & Classifications for Acromegaloid Facial Appearance Syndrome

Aliases & Descriptions for Acromegaloid Facial Appearance Syndrome:

Name: Acromegaloid Facial Appearance Syndrome 54 50 56 69
Thick Lips and Oral Mucosa 50
Afa Syndrome 50

Characteristics:

Orphanet epidemiological data:

56
acromegaloid facial appearance syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

HPO:

32
acromegaloid facial appearance syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 102150
Orphanet 56 ORPHA965
MESH via Orphanet 43 C535655
UMLS via Orphanet 70 C0796280
ICD10 via Orphanet 34 Q87.0

Summaries for Acromegaloid Facial Appearance Syndrome

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 seizures, hypertelorism and macroglossia. An important gene associated with Acromegaloid Facial Appearance Syndrome is ABCC9 (ATP Binding Cassette Subfamily C Member 9). Affiliated tissues include bone, skin and tongue, and related phenotype is muscle.

Description from OMIM: 102150

Related Diseases for Acromegaloid Facial Appearance Syndrome

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

id Related Disease Score Top Affiliating Genes
1 acromegaloid hypertrichosis syndrome 11.3
2 antiphospholipid syndrome 11.1
3 mercaptolactate-cysteine disulfiduria 9.8 ABCC9 TBX15

Symptoms & Phenotypes for Acromegaloid Facial Appearance Syndrome

Symptoms by clinical synopsis from OMIM:

102150

Clinical features from OMIM:

102150

Human phenotypes related to Acromegaloid Facial Appearance Syndrome:

56 32 (show all 29)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 56 32 Occasional (29-5%) HP:0001250
2 hypertelorism 56 32 Very frequent (99-80%) HP:0000316
3 macroglossia 56 32 Very frequent (99-80%) HP:0000158
4 gingival overgrowth 56 32 Very frequent (99-80%) HP:0000212
5 coarse facial features 56 32 Very frequent (99-80%) HP:0000280
6 craniofacial hyperostosis 56 32 Frequent (79-30%) HP:0004493
7 thick eyebrow 56 32 Frequent (79-30%) HP:0000574
8 intellectual disability, mild 56 32 Frequent (79-30%) HP:0001256
9 micrognathia 56 32 Frequent (79-30%) HP:0000347
10 thick lower lip vermilion 56 32 Very frequent (99-80%) HP:0000179
11 thick nasal alae 56 32 Very frequent (99-80%) HP:0009928
12 joint hyperflexibility 56 32 Very frequent (99-80%) HP:0005692
13 everted lower lip vermilion 56 32 Very frequent (99-80%) HP:0000232
14 palpebral edema 56 32 Very frequent (99-80%) HP:0100540
15 abnormality of the metacarpal bones 56 32 Frequent (79-30%) HP:0001163
16 bulbous nose 56 32 Very frequent (99-80%) HP:0000414
17 thickened skin 56 32 Frequent (79-30%) HP:0001072
18 blepharophimosis 56 32 Very frequent (99-80%) HP:0000581
19 highly arched eyebrow 56 32 Frequent (79-30%) HP:0002553
20 synophrys 56 32 Frequent (79-30%) HP:0000664
21 long nose 56 32 Very frequent (99-80%) HP:0003189
22 large hands 56 32 Very frequent (99-80%) HP:0001176
23 tapered finger 56 32 Occasional (29-5%) HP:0001182
24 sloping forehead 56 32 Frequent (79-30%) HP:0000340
25 abnormality of the mouth 32 HP:0000153
26 specific learning disability 32 HP:0001328
27 abnormality of the lip 56 Very frequent (99-80%)
28 abnormality of the tongue 56 Very frequent (99-80%)
29 large for gestational age 32 HP:0001520

MGI Mouse Phenotypes related to Acromegaloid Facial Appearance Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.62 ABCC9 TBX15

Drugs & Therapeutics for Acromegaloid Facial Appearance Syndrome

Search Clinical Trials , NIH Clinical Center for Acromegaloid Facial Appearance Syndrome

Genetic Tests for Acromegaloid Facial Appearance Syndrome

Anatomical Context for Acromegaloid Facial Appearance Syndrome

MalaCards organs/tissues related to Acromegaloid Facial Appearance Syndrome:

39
Bone, Skin, Tongue

Publications for Acromegaloid Facial Appearance Syndrome

Articles related to Acromegaloid Facial Appearance Syndrome:

id Title Authors Year
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

Expression for Acromegaloid Facial Appearance Syndrome

Search GEO for disease gene expression data for Acromegaloid Facial Appearance Syndrome.

Pathways for Acromegaloid Facial Appearance Syndrome

GO Terms for Acromegaloid Facial Appearance Syndrome

Sources for Acromegaloid Facial Appearance Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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