HAFF
MCID: ACR039
MIFTS: 19

Acromegaloid Hypertrichosis Syndrome (HAFF)

Categories: Fetal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Acromegaloid Hypertrichosis Syndrome

MalaCards integrated aliases for Acromegaloid Hypertrichosis Syndrome:

Name: Acromegaloid Hypertrichosis Syndrome 54
Acromegaloid Facial Appearance Syndrome and Hypertrichosis 54
Hypertrichosis-Acromegaloid Facial Appearance Syndrome 60
Hypertrichosis-Acromegaloid Facial Features Syndrome 60
Hypertrichosis-Coarse Face Syndrome 60
Haff 60

Characteristics:

Orphanet epidemiological data:

60
hypertrichosis-acromegaloid facial appearance syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

Classifications:



External Ids:

ICD10 via Orphanet 35 Q87.0
Orphanet 60 ORPHA966

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 and metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration. An important gene associated with Acromegaloid Hypertrichosis Syndrome is ABCC9 (ATP Binding Cassette Subfamily C Member 9). Affiliated tissues include skin and tongue, and related phenotypes are coarse facial features and thick vermilion border

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 11.5
2 metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 10.4
3 myositis 10.1
4 acute respiratory distress syndrome 10.1

Symptoms & Phenotypes for Acromegaloid Hypertrichosis Syndrome

Human phenotypes related to Acromegaloid Hypertrichosis Syndrome:

60 33 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 coarse facial features 60 33 hallmark (90%) Very frequent (99-80%) HP:0000280
2 thick vermilion border 60 33 hallmark (90%) Very frequent (99-80%) HP:0012471
3 joint hyperflexibility 60 33 hallmark (90%) Very frequent (99-80%) HP:0005692
4 generalized hirsutism 60 33 hallmark (90%) Very frequent (99-80%) HP:0002230
5 everted lower lip vermilion 60 33 hallmark (90%) Very frequent (99-80%) HP:0000232
6 palpebral edema 60 33 hallmark (90%) Very frequent (99-80%) HP:0100540
7 bulbous nose 60 33 hallmark (90%) Very frequent (99-80%) HP:0000414
8 abnormality of the hand 60 33 hallmark (90%) Very frequent (99-80%) HP:0001155
9 gingival overgrowth 60 33 frequent (33%) Frequent (79-30%) HP:0000212
10 blepharophimosis 60 33 frequent (33%) Frequent (79-30%) HP:0000581
11 furrowed tongue 60 33 frequent (33%) Frequent (79-30%) HP:0000221
12 intellectual disability 60 33 occasional (7.5%) Occasional (29-5%) HP:0001249
13 oral synechia 60 33 occasional (7.5%) Occasional (29-5%) HP:0010285

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:

42
Skin, Tongue

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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