HAFF
MCID: ACR039
MIFTS: 23

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 20
Acromegaloid Facial Appearance Syndrome and Hypertrichosis 20
Hypertrichosis-Acromegaloid Facial Appearance Syndrome 58
Hypertrichosis-Acromegaloid Facial Features Syndrome 58
Hypertrichosis-Coarse Face Syndrome 58
Haff 58

Characteristics:

Orphanet epidemiological data:

58
hypertrichosis-acromegaloid facial appearance syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

Classifications:

Orphanet: 58  
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q87.0
Orphanet 58 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 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 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 11.4
2 metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 10.6
3 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.6
4 myositis 10.1
5 myoglobinuria 10.1
6 papillomatosis, confluent and reticulated 9.9
7 gastroenteritis 9.9
8 myopathy 9.9

Graphical network of the top 20 diseases related to Acromegaloid Hypertrichosis Syndrome:



Diseases related to Acromegaloid Hypertrichosis Syndrome

Symptoms & Phenotypes for Acromegaloid Hypertrichosis Syndrome

Human phenotypes related to Acromegaloid Hypertrichosis Syndrome:

58 31 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 coarse facial features 58 31 hallmark (90%) Very frequent (99-80%) HP:0000280
2 thick vermilion border 58 31 hallmark (90%) Very frequent (99-80%) HP:0012471
3 everted lower lip vermilion 58 31 hallmark (90%) Very frequent (99-80%) HP:0000232
4 palpebral edema 58 31 hallmark (90%) Very frequent (99-80%) HP:0100540
5 joint hyperflexibility 58 31 hallmark (90%) Very frequent (99-80%) HP:0005692
6 generalized hirsutism 58 31 hallmark (90%) Very frequent (99-80%) HP:0002230
7 bulbous nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0000414
8 abnormality of the hand 58 31 hallmark (90%) Very frequent (99-80%) HP:0001155
9 gingival overgrowth 58 31 frequent (33%) Frequent (79-30%) HP:0000212
10 blepharophimosis 58 31 frequent (33%) Frequent (79-30%) HP:0000581
11 furrowed tongue 58 31 frequent (33%) Frequent (79-30%) HP:0000221
12 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
13 oral synechia 58 31 occasional (7.5%) Occasional (29-5%) HP:0010285

Drugs & Therapeutics for Acromegaloid Hypertrichosis Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 High-intensity Atorvastatin for Arteriovenous Fistula Failure (HAFF): A Feasibility Pilot Study Withdrawn NCT03188978 Phase 1, Phase 2 Atorvastatin 40mg

Search 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:

40
Tongue

Publications for Acromegaloid Hypertrichosis Syndrome

Articles related to Acromegaloid Hypertrichosis Syndrome:

(show top 50) (show all 79)
# Title Authors PMID Year
1
The Influence of Mental Fatigue on Sessional Ratings of Perceived Exertion in Elite Open and Closed Skill Sports Athletes. 61
33752221 2021
2
Development and Validation of an Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry Method to Determine Maduramicin in Crayfish (Procambarus clarkii) and Evaluate Food Safety. 61
33540848 2021
3
The chronic muscle injury secondary to crayfish-related Haff disease. 61
33460004 2021
4
Outbreak of Haff Disease along the Yangtze River, Anhui Province, China, 2016. 61
33219647 2020
5
Ionophore Toxin Maduramicin Produces Haff Disease-Like Rhabdomyolysis in a Mouse Model. 61
33121157 2020
6
The Influence of Biological Maturity and Competitive Level on Isometric Force-Time Curve Variables and Vaulting Performance in Young Female Gymnasts. 61
32569118 2020
7
Influence of Maximal Strength on In-Water and Dry-Land Performance in Young Water Polo Players. 61
29863590 2020
8
The Countermovement Jump Mechanics of Mixed Martial Arts Competitors. 61
31972823 2020
9
Mechanical and Metabolic Responses to Traditional and Cluster Set Configurations in the Bench Press Exercise. 61
29076963 2020
10
Efficacy of Active Charcoal and Mannitol in Patients with Haff Disease Caused by the Consumption of Crayfish (Procambarus clarkii): A Retrospective Cohort Study. 61
33005198 2020
11
Elevated Liver Enzymes as a Manifestation of Haff Disease. 61
31767218 2019
12
Effect of Altering Body Posture and Barbell Position on the Within-Session Reliability and Magnitude of Force-Time Curve Characteristics in the Isometric Midthigh Pull. 61
31269001 2019
13
Influence of Power Clean Ability and Training Age on Adaptations to Weightlifting-Style Training. 61
29547489 2019
14
Social and Psychological Predictors of Youths' Attitudes to Cryptocurrency. 61
31757103 2019
15
Comparison Between Back Squat, Romanian Deadlift, and Barbell Hip Thrust for Leg and Hip Muscle Activities During Hip Extension. 61
31356511 2019
16
Countermovement Jump and Drop Jump Performances Are Related to Grand Jeté Leap Performance in Dancers With Different Skill Levels. 61
31498221 2019
17
The Emergence, Epidemiology, and Etiology of Haff Disease. 61
31843046 2019
18
The Influence of Upper- and Lower-Body Maximum Strength on Swim Block Start, Turn, and Overall Swim Performance in Sprint Swimming. 61
31425457 2019
19
Rhabdomyolysis following fish consumption: a contained outbreak of Haff Disease in São Paulo. 61
31351034 2019
20
Outbreak of Haff disease caused by consumption of crayfish (Procambarus clarkii) in nanjing, China. 61
30451016 2019
21
Repeatability and Specificity of Eccentric Force Output and the Implications for Eccentric Training Load Prescription. 61
30789858 2019
22
Different Cluster Sets Result in Similar Metabolic, Endocrine, and Perceptual Responses in Trained Men. 61
28301435 2019
23
Clinical characteristics of patients with Haff disease after eating crayfish. 61
31171946 2019
24
A Retrospective Analysis of Crayfish-Related Rhabdomyolysis (Haff Disease). 61
31354999 2019
25
Clinical features of Haff disease and myositis after the consumption of boiled brackish water crayfish: a retrospective study of 96 cases at a single centre. 61
29737466 2018
26
Assessment of Upper-Body Ballistic Performance Through the Bench Press Throw Exercise: Which Velocity Outcome Provides the Highest Reliability? 61
29847530 2018
27
A cluster of patients with rhabdomyolysis after eating crayfish. 61
28893338 2018
28
Within- and Between-Session Reliability of the Isometric Midthigh Pull in Young Female Athletes. 61
29547490 2018
29
Comparison Between Elite and Subelite Swimmers on Dry Land and Tumble Turn Leg Extensor Force-Time Characteristics. 61
29786631 2018
30
Haff disease complicated by acute lung injury after crayfish consumption: a case report. 61
29129124 2018
31
Mean Velocity vs. Mean Propulsive Velocity vs. Peak Velocity: Which Variable Determines Bench Press Relative Load With Higher Reliability? 61
28557855 2018
32
Training Load Indices, Perceived Tolerance, and Enjoyment Among Different Models of Resistance Training in Older Adults. 61
29112052 2018
33
Diagnostic and Differential Diagnostic Significance of Laboratory Markers in Crayfish-Associated Rhabdomyolysis. 61
29678839 2018
34
Effect of Body Position on Force Production During the Isometric Midthigh Pull. 61
28486331 2018
35
Reliability and Validity of the Load-Velocity Relationship to Predict the 1RM Back Squat. 61
27669192 2017
36
Clinical and laboratory evidence of Haff disease - case series from an outbreak in Salvador, Brazil, December 2016 to April 2017. 61
28661391 2017
37
Neuromuscular Training Improves Movement Competency and Physical Performance Measures in 11-13-Year-Old Female Netball Athletes. 61
28135219 2017
38
Validity and Reliability of a Portable Isometric Mid-Thigh Clean Pull. 61
28415068 2017
39
Theoretical and Practical Aspects of Different Cluster Set Structures: A Systematic Review. 61
27465625 2017
40
The Emergence and Epidemiology of Haff Disease in China. 61
27916937 2016
41
Postactivation Potentiation of Horizontal Jump Performance Across Multiple Sets of a Contrast Protocol. 61
26890975 2016
42
Two Cases of Rhabdomyolysis (Haff Disease) After Eating Carp Fish. 61
27635408 2016
43
Global incidence of rhabdomyolysis after cooked seafood consumption (Haff disease). 61
25789572 2015
44
Rhabdomyolysis After Cooked Seafood Consumption (Haff Disease) in the United States vs China. 61
26130980 2015
45
Don't be Half-Educated About Haff Disease in Louisiana. 61
25978748 2015
46
Haff disease complicated by multiple organ failure after crayfish consumption: a case study. 61
25607271 2014
47
Haff disease: rhabdomyolysis after eating buffalo fish. 61
25247039 2014
48
Hydrodynamics of granular gases with a two-peak distribution. 61
24329256 2013
49
Haff disease associated with the ingestion of the freshwater fish Mylossoma duriventre (pacu-manteiga). 61
24553518 2013
50
Case series: inhaled coral vapor--toxicity in a tank. 61
23702624 2013

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

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56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
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71 UMLS via Orphanet
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