MCID: FTL001
MIFTS: 54

Fetal Alcohol Syndrome malady

Fetal diseases, Rare diseases, Neuronal diseases categories

Summaries for Fetal Alcohol Syndrome

About this section


Disease Ontology:9 A fetal alcohol spectrum disorder that results in severe mental and physical defects which can develop in a child when the mother drinks alcohol during pregnancy. the presenting features include craniofacial dysmorphology (microcephaly, smooth philtrum, thin upper lip, small eye openings), pre- and postnatal growth deficiency, and central nervous system dysfunction.

MalaCards based summary: Fetal Alcohol Syndrome, also known as fetal alcohol spectrum disorders, is related to partial fetal alcohol syndrome and viral hepatitis, and has symptoms including microcephaly, narrow face and telecanthus. An important gene associated with Fetal Alcohol Syndrome is PFAS (phosphoribosylformylglycinamidine synthase), and among its related pathways are Glycerolipid metabolism and Abacavir Pathway, Pharmacokinetics/Pharmacodynamics. The compounds n-benzylformamide and propionaldehyde have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and breast, and related mouse phenotype behavior/neurological.

Wikipedia:63 Fetal alcohol syndrome (FAS) or foetal alcohol syndrome is a pattern of physical and mental defects that... more...

Aliases & Classifications for Fetal Alcohol Syndrome

About this section
Sources:
47Orphanet, 9Disease Ontology, 11DISEASES, 43Novoseek, 3CDC, 60UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet, 25ICD10
See all sources

Fetal Alcohol Syndrome, Aliases & Descriptions:

Name: Fetal Alcohol Syndrome 9 11 43 47 3 60
Fetal Alcohol Spectrum Disorders 47 60
Fetus or Newborn Affected by Alcohol Transmitted Via Placenta or Breast Milk 60
Alcohol-Related Neurodevelopmental Disorder 47
Alcohol Related Neurodevelopmental Disorder 60
Alcohol-Related Birth Defects 47
 
Alcohol Related Birth Defect 60
Arnd 47
Arbd 47
Fasd 47
Fas 47


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
fetal alcohol syndrome:
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe),1-9/100000 (Austria),1-9/100000 (Belgium),1-5/10000 (Germany),1-9/100000 (Hungary),1-9/100000 (Ireland),1-9/100000 (Italy),1-9/100000 (Norway),1-5/10000 (Switzerland),1-9/100000 (United Kingdom),1-5/10000 (France),1-9/1000000 (Poland),1-9/100000 (Spain),6-9/10000 (Ukraine); Age of onset: Antenatal,Neonatal; Age of death: any age


External Ids:

Disease Ontology9 DOID:0050665
Orphanet47 1915
MESH via Orphanet34 D005310
ICD10 via Orphanet26 Q86.0
UMLS via Orphanet61 C0015923
ICD1025 Q86.0

Related Diseases for Fetal Alcohol Syndrome

About this section

Diseases in the Fetal Alcohol Syndrome family:

Fetal Alcohol Spectrum Disorder

Diseases related to Fetal Alcohol Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 448)
idRelated DiseaseScoreTop Affiliating Genes
1partial fetal alcohol syndrome31.4ACER3, PFAS
2viral hepatitis30.9ADH1B, AKR1A1
3hepatocellular carcinoma30.8VIP, ADH1B, AKR1A1, ALDH2
4alcohol abuse30.8ALDH2, AKR1A1
5substance abuse30.7ADH1B, ALDH2
6esophageal cancer30.7ALDH2, ADH1B
7adenocarcinoma30.6ALDH2, ADH1B, VIP, CALB2
8liver cirrhosis30.3AKR1A1, ADH1B, ALDH2
9adrenocortical carcinoma30.2VIP, CALB2
10dementia30.0ALDH2, GFAP, PVALB
11multiple system atrophy30.0GFAP, PVALB
12alzheimer disease29.8AKR1A1, GFAP, CALB2, PVALB, ALDH2
13tongue squamous cell carcinoma29.6ALDH2, CALB2, AKR1A1, ADH1B
14leukemia10.8
15hepatitis10.8
16thyroiditis10.7
17prostatitis10.7
18autoimmune lymphoproliferative syndrome10.7
19melanoma10.7
20breast cancer10.6
21fetal alcohol spectrum disorder10.6
22prostate cancer10.6
23lung cancer10.6
24lupus erythematosus10.6
25systemic lupus erythematosus10.6
26esophagitis10.5
27hepatitis c10.5
28arthritis10.5
29myeloma10.5
30pancreatitis10.5
31rheumatoid arthritis10.5
32renal cell carcinoma10.5
33cervicitis10.5
34obesity10.5
35silicosis10.5
36myeloid leukemia10.4
37autism spectrum disorder10.4
38colorectal cancer10.4
39autoimmune thyroiditis10.4
40hiv-110.4
41hepatitis b10.4
42multiple myeloma10.4
43t-cell leukemia10.4
44neuronitis10.4
45hirschsprung disease 110.4VIP
46b-cell lymphomas10.4
47cholangiocarcinoma10.4
48sarcoma10.4
49neuroblastoma10.3
50malignant glioma10.3

Graphical network of the top 20 diseases related to Fetal Alcohol Syndrome:



Diseases related to fetal alcohol syndrome

Symptoms for Fetal Alcohol Syndrome

About this section

Symptoms:

 47 (show all 31)
  • microcephaly
  • narrow face
  • telecanthus/canthal dystopy
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • psychic/behavioural troubles
  • short stature/dwarfism/nanism
  • intrauterine growth retardation
  • antenatal exposure : alcohol
  • narrow forehead
  • micrognathia/retrognathia/micrognathism/retrognathism
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • strabismus/squint
  • ptosis
  • epicanthic folds
  • short/small nose
  • anteverted nares/nostrils
  • thin/retracted lips
  • philtrum flat/large/featureless/absent cupidon bows
  • lateral cleft lip/gingival cleft/paramedian nasal cleft
  • complete/partial microdontia
  • low set ears/posteriorly rotated ears
  • vertebral segmentation anomaly/hemivertebrae
  • abnormal dermatoglyphics
  • atrial septal defect/interauricular communication
  • visceral angiomatosis (excluding skin)
  • restricted joint mobility/joint stiffness/ankylosis
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • hirsutism/hypertrichosis/increased body hair
  • diaphragmatic hernia/defect/agenesis
  • stillbirth/neonatal death

HPO human phenotypes related to Fetal Alcohol Syndrome:

(show all 29)
id Description Frequency HPO Source Accession
1 microcephaly hallmark (90%) HP:0000252
2 narrow face hallmark (90%) HP:0000275
3 telecanthus hallmark (90%) HP:0000506
4 behavioral abnormality hallmark (90%) HP:0000708
5 intrauterine growth retardation hallmark (90%) HP:0001511
6 short stature hallmark (90%) HP:0004322
7 cognitive impairment hallmark (90%) HP:0100543
8 thin vermilion border typical (50%) HP:0000233
9 epicanthus typical (50%) HP:0000286
10 abnormality of the philtrum typical (50%) HP:0000288
11 narrow forehead typical (50%) HP:0000341
12 micrognathia typical (50%) HP:0000347
13 low-set, posteriorly rotated ears typical (50%) HP:0000368
14 anteverted nares typical (50%) HP:0000463
15 strabismus typical (50%) HP:0000486
16 ptosis typical (50%) HP:0000508
17 microdontia typical (50%) HP:0000691
18 limitation of joint mobility typical (50%) HP:0001376
19 defect in the atrial septum typical (50%) HP:0001631
20 short nose typical (50%) HP:0003196
21 vertebral segmentation defect typical (50%) HP:0003422
22 abnormal dermatoglyphics typical (50%) HP:0007477
23 aplasia/hypoplasia affecting the eye typical (50%) HP:0008056
24 abnormality of immune system physiology typical (50%) HP:0010978
25 non-midline cleft lip typical (50%) HP:0100335
26 visceral angiomatosis typical (50%) HP:0100761
27 cleft palate occasional (7.5%) HP:0000175
28 congenital diaphragmatic hernia occasional (7.5%) HP:0000776
29 hypertrichosis occasional (7.5%) HP:0000998

Drugs & Therapeutics for Fetal Alcohol Syndrome

About this section

Drug clinical trials:

Search ClinicalTrials for Fetal Alcohol Syndrome

Search NIH Clinical Center for Fetal Alcohol Syndrome

Genetic Tests for Fetal Alcohol Syndrome

About this section

Anatomical Context for Fetal Alcohol Syndrome

About this section

MalaCards organs/tissues related to Fetal Alcohol Syndrome:

31
Brain, Eye, Breast, Placenta, Fetal brain, Skin, Testes, Liver, Bone, Thymus, Heart, Endothelial

Animal Models for Fetal Alcohol Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Fetal Alcohol Syndrome:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053867.9ALDH2, CALB2, PVALB, CHRM3, VIP, GFAP

Publications for Fetal Alcohol Syndrome

About this section

Articles related to Fetal Alcohol Syndrome:

(show top 50)    (show all 514)
idTitleAuthorsYear
1
Fetal alcohol syndrome (FAS) and fetal alcohol spectrum disorder (FASD)-diagnosis and moral policing; an ethical dilemma for paediatricians. (25005521)
2014
2
A potential molecular target for morphological defects of fetal alcohol syndrome: Kir2.1. (23756044)
2013
3
Health care burden and cost associated with fetal alcohol syndrome: based on official Canadian data. (22900084)
2012
4
Teaching NeuroImages: Schizencephaly in fetal alcohol syndrome. (22025464)
2011
5
Tissue plasminogen activator is required for the development of fetal alcohol syndrome in mice. (21383198)
2011
6
Fetal alcohol syndrome and fetal alcohol spectrum disorder in Indigenous schoolchildren. (19296803)
2009
7
Maternal risk factors for fetal alcohol syndrome and partial fetal alcohol syndrome in South Africa: a third study. (18336634)
2008
8
Automated diagnosis of fetal alcohol syndrome using 3D facial image analysis. (18713153)
2008
9
Identification of transcription factor and microRNA binding sites in responsible to fetal alcohol syndrome. (18366608)
2008
10
Impaired eyeblink conditioning in children with fetal alcohol syndrome. (18162064)
2008
11
Reprogramming of genetic networks during initiation of the Fetal Alcohol Syndrome. (17200951)
2007
12
Stereo image matching for facial feature measurement to aid in fetal alcohol syndrome screening. (16904364)
2007
13
Ethanol impairs Rho GTPase signaling and differentiation of cerebellar granule neurons in a rodent model of fetal alcohol syndrome. (17109064)
2006
14
Using the past to step forward: fetal alcohol syndrome in the Western Cape Province of South Africa. (15983266)
2005
15
Fetal alcohol syndrome. Introduction. (15223535)
2004
16
Increased sibling mortality in children with fetal alcohol syndrome. (15223547)
2004
17
A comparison of fetal alcohol syndrome surveillance network and birth defects surveillance methodology in determining prevalence rates of fetal alcohol syndrome. (14703793)
2003
18
Recognition and management of fetal alcohol syndrome. (14624967)
2003
19
From the Centers for Disease Control and Prevention. Fetal alcohol syndrome--Alaska, Arizona, Colorado, and New York, 1995-1997. (12099269)
2002
20
Fetal alcohol syndrome. (20046289)
2002
21
Fetal alcohol syndrome: What you should know about drinking during pregnancy. (20046290)
2002
22
Application of the fetal alcohol syndrome facial photographic screening tool in a foster care population. (12410204)
2002
23
Midaortic syndrome associated with fetal alcohol syndrome. (12427818)
2002
24
Prevention of fetal demise and growth restriction in a mouse model of fetal alcohol syndrome. (11303069)
2001
25
Gin Lane: did Hogarth know about fetal alcohol syndrome? (11259209)
2001
26
Physician awareness and screening for fetal alcohol syndrome. (11010122)
2000
27
Fetal alcohol syndrome in SALo Paulo, Brazil. (10563369)
1999
28
Neuropsychological comparison of alcohol-exposed children with or without physical features of fetal alcohol syndrome. (9460742)
1998
29
Bone age and growth in fetal alcohol syndrome. (9756047)
1998
30
Contribution to first-pass metabolism of ethanol and inhibition by ethanol for retinol oxidation in human alcohol dehydrogenase family--implications for etiology of fetal alcohol syndrome and alcohol-related diseases. (9652389)
1998
31
Fetal alcohol syndrome update. (9323398)
1997
32
Fetal alcohol syndrome epidemic on Manitoba reserve. (9220946)
1997
33
Fetal alcohol syndrome. (9113456)
1997
34
Variation in induction of human placental CYP2E1: possible role in susceptibility to fetal alcohol syndrome? (9194424)
1997
35
Optic nerve hypoplasia in fetal alcohol syndrome: an update. (9352281)
1997
36
Ethanol inhibition of retinoic acid synthesis as a potential mechanism for fetal alcohol syndrome. (8801166)
1996
37
A multiple-level, comprehensive approach to the prevention of fetal alcohol syndrome (FAS) and other alcohol-related birth defects (ARBD). (8557409)
1995
38
Neonatal diagnosis of fetal alcohol syndrome: not necessarily a hopeless prognosis. (8749826)
1995
39
Epidemiology of fetal alcohol syndrome in American Indians, Alaskan Natives, and Canadian Aboriginal peoples: a review of the literature. (7938391)
1994
40
Fetal alcohol syndrome: review of the literature with implications for physical therapists. (7689232)
1993
41
Fetal alcohol syndrome--United States, 1979-1992. (8479418)
1993
42
Corneal endothelial anomalies in the fetal alcohol syndrome. (1497528)
1992
43
Fetal alcohol syndrome: a case report of neuropsychological, MRI and EEG assessment of two children. (1443415)
1992
44
Fetal alcohol syndrome: misplaced emphasis. (2058598)
1991
45
Fetal alcohol syndrome in adolescents and adults. (2008025)
1991
46
Fetal alcohol syndrome: a description of oral motor, articulatory, short-term memory, grammatical, and semantic abilities. (2341602)
1990
47
Neuropsychological deficits in fetal alcohol syndrome and fetal alcohol effects. (2264592)
1990
48
Fetal alcohol syndrome: report of one case. (2260467)
1990
49
A cephalometric assessment of children with fetal alcohol syndrome. (2705412)
1989
50
Fetal alcohol syndrome. (3048231)
1988

Variations for Fetal Alcohol Syndrome

About this section

Expression for genes affiliated with Fetal Alcohol Syndrome

About this section
Search GEO for disease gene expression data for Fetal Alcohol Syndrome.

Pathways for genes affiliated with Fetal Alcohol Syndrome

About this section

Pathways related to Fetal Alcohol Syndrome according to GeneCards Suite gene sharing:

(show all 11)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.8AKR1A1, ALDH2
29.6ADH1A, ADH1B
3
Show member pathways
tryptophan degradation X (mammalian, via tryptamine)36
2-amino-3-carboxymuconate semialdehyde degradation to glutaryl-CoA36
tryptophan degradation36
glutaryl-CoA degradation36
serotonin degradation36
NAD de novo biosynthesis36
superpathway of melatonin degradation36
tryptophan degradation to 2-amino-3-carboxymuconate semialdehyde36
tryptophan utilization I36
melatonin degradation I36
9.5ALDH2, AKR1A1, ADH1B
4
Show member pathways
acetate conversion to acetyl-CoA36
oxidative ethanol degradation III36
ethanol degradation IV36
9.4ADH1B, ALDH2, ACSS3
5
Show member pathways
9.3ALDH2, ADH1A, ADH1B
6
Show member pathways
mitochondrial L-carnitine shuttle pathway36
Saturated fatty acid biosynthesis58
9.3ADH1A, ADH1B, ALDH2
7
Show member pathways
phenylalanine utilization36
noradrenaline and adrenaline degradation36
phenylalanine degradation IV36
9.3ADH1A, ALDH2, ADH1B
8
Show member pathways
8.9AKR1A1, ADH1B, ADH1A, ALDH2
9
Show member pathways
8.9ADH1A, ADH1B, AKR1A1, ALDH2
10
Show member pathways
glycolysis36
gluconeogenesis36
Glycolysis and Gluconeogenesis36
8.9ADH1A, ADH1B, ALDH2, AKR1A1
11
Show member pathways
7.2ACER3, CHRM3, ACSS3, PFAS, AKR1A1, ALDH2

Compounds for genes affiliated with Fetal Alcohol Syndrome

About this section

Compounds related to Fetal Alcohol Syndrome according to GeneCards Suite gene sharing:

(show top 50)    (show all 74)
idCompoundScoreTop Affiliating Genes
1n-benzylformamide43 1211.2ADH1B, AKR1A1
2propionaldehyde4310.1AKR1A1, ALDH2
3benzaldehyde43 2411.1ALDH2, AKR1A1
4glyceraldehyde43 2411.0AKR1A1, ALDH2
5rsai439.9AKR1A1, ALDH2, ADH1B
63,4-Dihydroxyphenylglycol249.9ADH1A, ADH1B
78-bromo-cyclic amp439.9VIP, GFAP
89-cis-Retinal249.8ADH1A, ADH1B
9guanylate439.8PFAS, ALDH2, VIP
10Retinal249.8ADH1B, ADH1A
11tetrodotoxin43 59 2811.7VIP, PVALB, GFAP
12betaine aldehyde43 2410.7ADH1B, ADH1A, ALDH2
133a,7a-Dihydroxy-5b-cholestan-26-al249.7ALDH2, ADH1B, ADH1A
143,4-Dihydroxymandelaldehyde249.7ADH1A, ADH1B
15nad+439.6AKR1A1, ALDH2, PVALB
161-Pentanol249.6ADH1B, AKR1A1, ADH1A
17haloperidol43 49 28 2 1213.6PVALB, VIP, AKR1A1
18Isopropyl alcohol249.6ADH1A, ADH1B, AKR1A1
191-Hexanol249.6ADH1A, AKR1A1, ADH1B
20Isobutanol249.6ADH1A, ADH1B, AKR1A1
21Propyl alcohol249.6AKR1A1, ADH1B, ADH1A
22cyanine439.6PVALB, CALB2
231-Butanol249.6ADH1B, AKR1A1, ADH1A
24verapamil43 28 49 24 1213.4AKR1A1, VIP, GFAP
25formaldehyde43 2410.4PVALB, GFAP, AKR1A1, ALDH2
26glutamine439.4ALDH2, AKR1A1, VIP, GFAP
27histamine43 28 2411.4ALDH2, VIP, AKR1A1, PVALB
28acetaldehyde28 43 2411.3ALDH2, AKR1A1, ADH1B, ADH1A
29quinolinic acid43 2410.3GFAP, CALB2, PVALB
30NADP249.3ALDH2, AKR1A1, ADH1A, ADH1B
31vitamin a43 24 1211.3AKR1A1, ADH1B, ADH1A, ALDH2
32nad28 2410.2ALDH2, AKR1A1, ADH1A, ADH1B
33nadh43 24 1211.2ADH1A, AKR1A1, ALDH2, ADH1B
34silver439.2CALB2, GFAP, PVALB
35polyacrylamide439.2ALDH2, PVALB, AKR1A1, ADH1B, GFAP
36carbachol43 28 1211.2KCNJ2, VIP, CHRM3
37arginine439.1AKR1A1, ALDH2, VIP, GFAP, KCNJ2
385-hydroxytryptamine439.0CALB2, AKR1A1, VIP, GFAP
39aspartate438.8VIP, AKR1A1, ALDH2, PVALB, GFAP, CHRM3
40cysteine438.7AKR1A1, CHRM3, ALDH2, GFAP, VIP
41acetylcholine43 49 28 24 1212.7GFAP, CALB2, PVALB, CHRM3, VIP
42gaba438.6PVALB, AKR1A1, VIP, CALB2, GFAP
43estrogen438.3AKR1A1, VIP, PVALB, GFAP, CALB2
44glutamate438.3AKR1A1, ALDH2, GFAP, VIP, PVALB, CALB2
45dopamine43 28 24 1211.1AKR1A1, GFAP, CALB2, ALDH2, PVALB, VIP
46nadph43 249.1ADH1A, CALB2, ADH1B, AKR1A1, PVALB, ALDH2
47zinc43 249.0ADH1B, PVALB, AKR1A1, GFAP, ADH1A, CALB2
48tyrosine437.9VIP, GFAP, KCNJ2, CALB2, CHRM3, PVALB
49choline43 24 129.8GFAP, CALB2, ADH1B, PVALB, CHRM3, VIP
50ethanol43 49 24 1210.4PVALB, CHRM3, ADH1B, ADH1A, GFAP, CALB2

GO Terms for genes affiliated with Fetal Alcohol Syndrome

About this section

Biological processes related to Fetal Alcohol Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1alcohol metabolic processGO:00060669.6ALDH2, ADH1A
2ethanol oxidationGO:00060699.4ALDH2, ADH1B, ADH1A
3cytosolic calcium ion homeostasisGO:00514809.2CALB2, PVALB
4xenobiotic metabolic processGO:00068059.0ADH1A, ADH1B, ALDH2
5small molecule metabolic processGO:00442818.1PFAS, ADH1A, ADH1B, CHRM3, ACER3, ALDH2

Molecular functions related to Fetal Alcohol Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1alcohol dehydrogenase activity, zinc-dependentGO:00040249.6ADH1B, ADH1A

Products for genes affiliated with Fetal Alcohol Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Fetal Alcohol Syndrome

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet