MCID: ACR039
MIFTS: 18

Acromegaloid Hypertrichosis Syndrome

Categories: Rare diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Acromegaloid Hypertrichosis Syndrome

MalaCards integrated aliases for Acromegaloid Hypertrichosis Syndrome:

Name: Acromegaloid Hypertrichosis Syndrome 53
Acromegaloid Facial Appearance Syndrome and Hypertrichosis 53
Hypertrichosis-Acromegaloid Facial Appearance Syndrome 59
Hypertrichosis-Acromegaloid Facial Features Syndrome 59
Hypertrichosis-Coarse Face Syndrome 59
Haff 59

Characteristics:

Orphanet epidemiological data:

59
hypertrichosis-acromegaloid facial appearance syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

Classifications:



External Ids:

Orphanet 59 ORPHA966
ICD10 via Orphanet 34 Q87.0

Summaries for Acromegaloid Hypertrichosis Syndrome

MalaCards based summary : Acromegaloid Hypertrichosis Syndrome, also known as acromegaloid facial appearance syndrome and hypertrichosis, is related to acromegaloid facial appearance syndrome. An important gene associated with Acromegaloid Hypertrichosis Syndrome is ABCC9 (ATP Binding Cassette Subfamily C Member 9). Affiliated tissues include tongue and skin, and related phenotypes are gingival overgrowth and furrowed tongue

Related Diseases for Acromegaloid Hypertrichosis Syndrome

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

# Related Disease Score Top Affiliating Genes
1 acromegaloid facial appearance syndrome 11.3

Symptoms & Phenotypes for Acromegaloid Hypertrichosis Syndrome

Human phenotypes related to Acromegaloid Hypertrichosis Syndrome:

59 32 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gingival overgrowth 59 32 frequent (33%) Frequent (79-30%) HP:0000212
2 furrowed tongue 59 32 frequent (33%) Frequent (79-30%) HP:0000221
3 everted lower lip vermilion 59 32 hallmark (90%) Very frequent (99-80%) HP:0000232
4 coarse facial features 59 32 hallmark (90%) Very frequent (99-80%) HP:0000280
5 bulbous nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0000414
6 blepharophimosis 59 32 frequent (33%) Frequent (79-30%) HP:0000581
7 abnormality of the hand 59 32 hallmark (90%) Very frequent (99-80%) HP:0001155
8 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
9 generalized hirsutism 59 32 hallmark (90%) Very frequent (99-80%) HP:0002230
10 joint hyperflexibility 59 32 hallmark (90%) Very frequent (99-80%) HP:0005692
11 oral synechia 59 32 occasional (7.5%) Occasional (29-5%) HP:0010285
12 thick vermilion border 59 32 hallmark (90%) Very frequent (99-80%) HP:0012471
13 palpebral edema 59 32 hallmark (90%) Very frequent (99-80%) HP:0100540

Drugs & Therapeutics for Acromegaloid Hypertrichosis Syndrome

Search Clinical Trials , NIH Clinical Center for Acromegaloid Hypertrichosis Syndrome

Genetic Tests for Acromegaloid Hypertrichosis Syndrome

Anatomical Context for Acromegaloid Hypertrichosis Syndrome

MalaCards organs/tissues related to Acromegaloid Hypertrichosis Syndrome:

41
Tongue, Skin

Publications for Acromegaloid Hypertrichosis Syndrome

Variations for Acromegaloid Hypertrichosis Syndrome

Expression for Acromegaloid Hypertrichosis Syndrome

Search GEO for disease gene expression data for Acromegaloid Hypertrichosis Syndrome.

Pathways for Acromegaloid Hypertrichosis Syndrome

GO Terms for Acromegaloid Hypertrichosis Syndrome

Sources for Acromegaloid Hypertrichosis Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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