Fetal Akinesia Deformation Sequence 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Fetal Akinesia Deformation Sequence 2

MalaCards integrated aliases for Fetal Akinesia Deformation Sequence 2:

Name: Fetal Akinesia Deformation Sequence 2 ⁵⁷ ⁷³ ²⁸ ⁵

Fads2 ⁵⁷ ¹¹ ⁷³

Fetal Akinesia Deformation Sequence Syndrome 2 ¹¹

Akinesia, Fetal, Deformation Sequence, Type 2 ³⁸

Characteristics:

Inheritance:

Autosomal recessive ⁵⁷

Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Respiratory diseases Mental diseases

See all MalaCards categories (disease lists)

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Summaries for Fetal Akinesia Deformation Sequence 2

OMIM®: ⁵⁷ The fetal akinesia deformation sequence (FADS) refers to a clinically and genetically heterogeneous constellation of features including fetal akinesia, intrauterine growth retardation, arthrogryposis, and developmental anomalies, including lung hypoplasia, cleft palate, and cryptorchidism (Vogt et al., 2009). It shows phenotypic overlap with the lethal form of multiple pterygium syndrome (see 253290). For a general phenotypic description and a discussion of genetic heterogeneity of FADS, see 208150. (618388) (Updated 08-Dec-2022)

MalaCards based summary: Fetal Akinesia Deformation Sequence 2, also known as fads2, is related to fetal akinesia deformation sequence 1 and diabetes mellitus. An important gene associated with Fetal Akinesia Deformation Sequence 2 is RAPSN (Receptor Associated Protein Of The Synapse). Affiliated tissues include lung, liver and prefrontal cortex, and related phenotypes are high palate and hypotonia

UniProtKB/Swiss-Prot: ⁷³ A clinically and genetically heterogeneous group of disorders with congenital malformations related to impaired fetal movement. Clinical features include fetal akinesia, intrauterine growth retardation, polyhydramnios, arthrogryposis, pulmonary hypoplasia, craniofacial abnormalities, and cryptorchidism. FADS2 inheritance is autosomal recessive.

Disease Ontology: ¹¹ A fetal akinesia deformation sequence that has material basis in homozygous or compound heterozygous mutation in RAPSN on chromosome 11p11.2.

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Related Diseases for Fetal Akinesia Deformation Sequence 2

Diseases in the Fetal Akinesia Deformation Sequence 1 family:

Fetal Akinesia Deformation Sequence 2	Fetal Akinesia Deformation Sequence 3
Fetal Akinesia Deformation Sequence 4

Diseases related to Fetal Akinesia Deformation Sequence 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 80)

#	Related Disease	Score
1	fetal akinesia deformation sequence 1	11.2
2	diabetes mellitus	11.1
3	fetal akinesia deformation sequence 4	11.0
4	hyperlipoproteinemia, type v	10.9
5	dermatitis	10.2
6	non-alcoholic fatty liver disease	10.2
7	dermatitis, atopic	10.1
8	arteries, anomalies of	10.0
9	type 2 diabetes mellitus	10.0
10	body mass index quantitative trait locus 11	10.0
11	body mass index quantitative trait locus 9	10.0
12	body mass index quantitative trait locus 8	10.0
13	dermatitis, atopic, 2	10.0
14	body mass index quantitative trait locus 4	10.0
15	body mass index quantitative trait locus 10	10.0
16	body mass index quantitative trait locus 7	10.0
17	body mass index quantitative trait locus 12	10.0
18	body mass index quantitative trait locus 14	10.0
19	body mass index quantitative trait locus 18	10.0
20	hyperlipoproteinemia, type iii	10.0
21	body mass index quantitative trait locus 19	10.0
22	body mass index quantitative trait locus 20	10.0
23	lipoprotein quantitative trait locus	10.0
24	nutritional deficiency disease	10.0
25	fatty liver disease	10.0
26	abdominal obesity-metabolic syndrome 1	10.0
27	allergic rhinitis	10.0
28	hepatitis	10.0
29	lipid metabolism disorder	10.0
30	rhinitis	10.0
31	chronic rhinitis	10.0
32	crohn's disease	10.0
33	oto-palatal-digital syndrome	10.0
34	adult syndrome	9.8
35	alzheimer disease, familial, 1	9.8
36	atherosclerosis susceptibility	9.8
37	colorectal cancer	9.8
38	multiple sclerosis	9.8
39	glioma susceptibility 1	9.8
40	ige responsiveness, atopic	9.8
41	ovarian cancer	9.8
42	polycystic ovary syndrome 1	9.8
43	tuberous sclerosis 1	9.8
44	autism	9.8
45	congenital hemidysplasia with ichthyosiform erythroderma and limb defects	9.8
46	stroke, ischemic	9.8
47	hyperhomocysteinemia	9.8
48	ovarian cancer 1	9.8
49	major depressive disorder	9.8
50	hepatitis c virus	9.8

Graphical network of the top 20 diseases related to Fetal Akinesia Deformation Sequence 2:

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Symptoms & Phenotypes for Fetal Akinesia Deformation Sequence 2

Human phenotypes related to Fetal Akinesia Deformation Sequence 2:

³⁰ (show all 17)

#	Description	HPO Frequency	HPO Source Accession
1	high palate ³⁰	Very rare (1%)	HP:0000218
2	hypotonia ³⁰	Very rare (1%)	HP:0001252
3	respiratory insufficiency ³⁰	Very rare (1%)	HP:0002093
4	hypertelorism ³⁰	Very rare (1%)	HP:0000316
5	wide nasal bridge ³⁰	Very rare (1%)	HP:0000431
6	flexion contracture ³⁰	Very rare (1%)	HP:0001371
7	feeding difficulties in infancy ³⁰	Very rare (1%)	HP:0008872
8	cleft palate ³⁰	Very rare (1%)	HP:0000175
9	cryptorchidism ³⁰	Very rare (1%)	HP:0000028
10	micrognathia ³⁰	Very rare (1%)	HP:0000347
11	low-set ears ³⁰	Very rare (1%)	HP:0000369
12	downslanted palpebral fissures ³⁰	Very rare (1%)	HP:0000494
13	decreased fetal movement ³⁰	Very rare (1%)	HP:0001558
14	tented upper lip vermilion ³⁰	Very rare (1%)	HP:0010804
15	weak cry ³⁰	Very rare (1%)	HP:0001612
16	broad neck ³⁰		HP:0000475
17	fetal akinesia sequence ³⁰		HP:0001989

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Neurologic Central Nervous System:
hypotonia

Head And Neck Nose:
wide nasal bridge
short nose

Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Ears:
low-set ears

Voice:
weak cry

Skeletal Limbs:
joint contractures
abnormally flexed elbows

Abdomen Gastrointestinal:
feeding problems

Prenatal Manifestations Movement:
decreased fetal movements

Head And Neck Neck:
short, broad neck

Skeletal Feet:
hyperextended toes

Head And Neck Eyes:
hypertelorism
downslanting palpebral fissures

Head And Neck Mouth:
cleft palate
high-arched palate
small mouth
thin lips

Head And Neck Face:
micrognathia
short philtrum
flat facial profile

Prenatal Manifestations:
fetal akinesia sequence
hydrops fetalis (mild)

Respiratory:
respiratory distress

Chest External Features:
small thorax

Respiratory Lung:
hypoplastic lungs

Skeletal Hands:
flexed fingers
wrist hyperextension

Chest Diaphragm:
thin diaphragm

Clinical features from OMIM®:

618388 (Updated 08-Dec-2022)

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Drugs & Therapeutics for Fetal Akinesia Deformation Sequence 2

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	The Influence of FADS2 rs 174575 on Breastmilk Fatty Acid Levels and the Recognition Memory Abilities of 6-month Old Breastfed Infants and Follow-up	Completed	NCT01942434

Search NIH Clinical Center for Fetal Akinesia Deformation Sequence 2

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Genetic Tests for Fetal Akinesia Deformation Sequence 2

Genetic tests related to Fetal Akinesia Deformation Sequence 2:

#	Genetic test	Affiliating Genes
1	Fetal Akinesia Deformation Sequence 2 ²⁸	RAPSN

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Anatomical Context for Fetal Akinesia Deformation Sequence 2

Organs/tissues related to Fetal Akinesia Deformation Sequence 2:

MalaCards : Lung, Liver, Prefrontal Cortex, Brain, Breast, Testis, Adipocyte

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Publications for Fetal Akinesia Deformation Sequence 2

Articles related to Fetal Akinesia Deformation Sequence 2:

(show top 50) (show all 647)

#	Title	Authors	PMID	Year
1	Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders. ⁵⁷ ⁵	Michalk A...Hoffmann K	18252226	2008
2	Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients. ⁵⁷ ⁵	Vogt J...Maher ER	18179903	2008
3	Germline mutation in DOK7 associated with fetal akinesia deformation sequence. ⁵⁷	Vogt J...Maher ER	19261599	2009
4	Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes. ⁵	Burke G...Beeson D	14504330	2003
5	Multi-omics responses in tree swallow (Tachycineta bicolor) nestlings from the Maumee Area of Concern, Maumee River, Ohio. ⁶²	Tseng CY...Matson CW	36183771	2023
6	FADS cluster variants are associated with insulin sensitivity in children and adolescents with overweight and obesity. ⁶²	Maguolo A...Maffeis C	35906330	2022
7	Thallium(I and III) exposure leads to liver damage and disorders of fatty acid metabolism in mice. ⁶²	Li D...Xiao Q	35817190	2022
8	Interaction among dietary n-3 and n-6 polyunsaturated fatty acid intake, fatty acid desaturase 2 genetic variants, and low-density lipoprotein cholesterol levels in type 2 diabetes patients. ⁶²	Huang PC...Chang WT	36412559	2022
9	Exploring potential shared genetic influences between rheumatoid arthritis and blood lipid levels. ⁶²	Kasher M...Livshits G	36455308	2022
10	Mendelian Randomization Indicates a Causal Role for Omega-3 Fatty Acids in Inflammatory Bowel Disease. ⁶²	Astore C...Gibson G	36430859	2022
11	Whole-transcriptome RNA sequencing reveals the global molecular responses and circRNA/lncRNA-miRNA-mRNA ceRNA regulatory network in chicken fat deposition. ⁶²	Xiao C...Yang X	36116349	2022
12	Lipidomic profiling of the hepatic esterified fatty acid composition in diet-induced nonalcoholic fatty liver disease in genetically diverse Collaborative Cross mice. ⁶²	Nagumalli SK...Pogribny IP	35858665	2022
13	GPR120-ERK1-Srebp1c signaling pathway regulates long-chain polyunsaturated fatty acids biosynthesis in marine teleost Siganus canaliculatus. ⁶²	Dong Y...Li Y	36414184	2022
14	Inhibition of IκB Kinase Is a Potential Therapeutic Strategy to Circumvent Resistance to Epidermal Growth Factor Receptor Inhibition in Triple-Negative Breast Cancer Cells. ⁶²	Yi YW...Seong YS	36358633	2022
15	Transcription profiling of feline mammary carcinomas and derived cell lines reveals biomarkers and drug targets associated with metabolic and cell cycle pathways. ⁶²	Granados-Soler JL...Nolte I	36220861	2022
16	Tracing Bai-Yue Ancestry in Aboriginal Li People on Hainan Island. ⁶²	Chen H...Xu S	36173765	2022
17	The association between dietary glycemic index and cardio-metabolic risk factors in obese individuals. ⁶²	Siri G...Ardekani AM	36253802	2022
18	Large-Scale Targeted Sequencing Study of Ischemic Stroke in the Han Chinese Population. ⁶²	Shi M...He J	36193932	2022
19	Ancestry-related distribution of Runs of homozygosity and functional variants in Qatari population. ⁶²	Mezzavilla M...Gasparini P	36131251	2022
20	Genes regulating levels of ω-3 long-chain polyunsaturated fatty acids are associated with alcohol use disorder and consumption, and broader externalizing behavior in humans. ⁶²	Aliev F...Bettinger JC	35904282	2022
21	Title: Involvement of unsaturated fatty acid biosynthesis in CRC progression based on in vitro and in silico studies. ⁶²	Mokhtari K...Ghaedi K	35779418	2022
22	Omega-6 highly unsaturated fatty acids in Leydig cells facilitate male sex hormone production. ⁶²	Ri K...Yokomizo T	36131086	2022
23	JMJD1C-regulated lipid synthesis contributes to the maintenance of MLL-rearranged acute myeloid leukemia. ⁶²	Qi D...Hu Z	35468015	2022
24	Inhibition of cannabinoid receptor type 1 sensitizes triple-negative breast cancer cells to ferroptosis via regulating fatty acid metabolism. ⁶²	Li P...Li S	36130940	2022
25	Association of placental fatty acid desaturase 2 (FADS2) methylation with maternal fatty acid levels in women with preeclampsia. ⁶²	Dave K...Joshi S	35872376	2022
26	Tandem mass tag-based proteomics analysis reveals the effects of Guri Gumu-13 pill on drug-induced liver injury. ⁶²	Kang S...Zhao L	35809368	2022
27	A ferroptosis-related gene signature for overall survival prediction and immune infiltration in lung squamous cell carcinoma. ⁶²	Miao TW...Chen X	35866375	2022
28	A complete inventory of long-chain polyunsaturated fatty acid biosynthesis pathway enzymes in the miniaturized cyprinid Paedocypris micromegethes. ⁶²	Sam KK...Shu-Chien AC	35643977	2022
29	Metabolic and molecular evidence for long-chain PUFA biosynthesis capacity in the grass carp Ctenopharyngodon idella. ⁶²	Marrero M...Rodriguez C	35580802	2022
30	Maternal DHA-rich n-3 PUFAs supplementation interacts with FADS genotypes to influence the profiles of PUFAs in the colostrum among Chinese Han population: a birth cohort study. ⁶²	Li P...Qi K	35871074	2022
31	FADS1 and FADS2 as biomarkers of Zn status - a systematic review and meta-analysis. ⁶²	Knez M...Boy E	35880429	2022
32	Interaction analysis of FADS2 gene variants with chronic hepatitis B infection in Chinese patients. ⁶²	Sun YH...Zhang SJ	35489698	2022
33	The g.4290 C>G Polymorphism in the FADS2 Gene Modifies the Fatty Acid Profile of the Pectoralis Superficialis Muscle of Ross 308 Broiler Chickens. ⁶²	Kaczor U...Poltowicz K	35892532	2022
34	A Novel Strategy for the Production of Edible Insects: Effect of Dietary Perilla Seed Supplementation on Nutritional Composition, Growth Performance, Lipid Metabolism, and Δ6 Desaturase Gene Expression of Sago Palm Weevil (Rhynchophorus ferrugineus) Larvae. ⁶²	Chinarak K...Chaijan M	35885278	2022
35	Convergent copy number increase of genes associated with freshwater colonization in fishes. ⁶²	Ishikawa A...Kitano J	35634928	2022
36	Fatty acid desaturase 2 affects the milk-production traits in Chinese Holsteins. ⁶²	Fu Y...Han B	35292995	2022
37	Insulin activates LC-PUFA biosynthesis of hepatocytes by regulating the PI3K/Akt/mTOR/Srebp1 pathway in teleost Siganus canaliculatus. ⁶²	Liu L...Li Y	35321854	2022
38	Genetic Factors Associated with Response to Vitamin E Treatment in NAFLD. ⁶²	Civelek M...Podszun MC	35883775	2022
39	Interplay between fatty acid desaturase2 (FADS2) rs174583 genetic variant and dietary antioxidant capacity: cardio-metabolic risk factors in obese individuals. ⁶²	Khodarahmi M...Kahroba H	35773659	2022
40	Effects of different breeds/strains on fatty acid composition and lipid metabolism-related genes expression in breast muscle of ducks. ⁶²	Zhang X...Wang J	35358925	2022
41	Elevation of fatty acid desaturase 2 in esophageal adenocarcinoma increases polyunsaturated lipids and may exacerbate bile acid-induced DNA damage. ⁶²	Molendijk J...Hill MM	35560527	2022
42	Branched-Chain Fatty Acids Alter the Expression of Genes Responsible for Lipid Synthesis and Inflammation in Human Adipose Cells. ⁶²	Czumaj A...Mika A	35684110	2022
43	Altered Cerebral Curvature in Preterm Infants Is Associated with the Common Genetic Variation Related to Autism Spectrum Disorder and Lipid Metabolism. ⁶²	Kim H...Lee HJ	35683524	2022
44	FADS2-dependent fatty acid desaturation dictates cellular sensitivity to ferroptosis and permissiveness for hepatitis C virus replication. ⁶²	Yamane D...Ichi I	34520742	2022
45	Transcriptome Profile Reveals Genetic and Metabolic Mechanisms Related to Essential Fatty Acid Content of Intramuscular Longissimus thoracis in Nellore Cattle. ⁶²	Schettini GP...Curi RA	35629975	2022
46	Regulation of Δ6Fads2 Gene Involved in LC-PUFA Biosynthesis Subjected to Fatty Acid in Large Yellow Croaker (Larimichthys crocea) and Rainbow Trout (Oncorhynchus mykiss). ⁶²	Sun J...Ai Q	35625587	2022
47	Metabolomic Associations of Asthma in the Hispanic Community Health Study/Study of Latinos. ⁶²	Lee Y...Yu B	35448546	2022
48	Partial fads2 Gene Knockout Diverts LC-PUFA Biosynthesis via an Alternative Δ8 Pathway with an Impact on the Reproduction of Female Zebrafish (Danio rerio). ⁶²	Blahova Z...Mraz J	35456508	2022
49	Lower polyunsaturated fatty acid levels and FADS2 expression in adult compared to neonatal keratinocytes are associated with FADS2 promotor hypermethylation. ⁶²	Pararasa C...Griffiths HR	35219001	2022
50	FADS1 and FADS2 Gene Polymorphisms Modulate the Relationship of Omega-3 and Omega-6 Fatty Acid Plasma Concentrations in Gestational Weight Gain: A NISAMI Cohort Study. ⁶²	Santana JDM...Oliveira AM	35268031	2022

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Genes for Fetal Akinesia Deformation Sequence 2

Genes related to Fetal Akinesia Deformation Sequence 2 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	RAPSN	Receptor Associated Protein Of The Synapse	Protein Coding	1308.37	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ GeneCards inferred via : Disorders (show sections)	14504330 18179903 18252226

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Variations for Fetal Akinesia Deformation Sequence 2

ClinVar genetic disease variations for Fetal Akinesia Deformation Sequence 2:

⁵ (show all 13)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	RAPSN	NM_005055.5(RAPSN):c.416T>C (p.Phe139Ser)	SNV	Pathogenic	8058	rs121909256	GRCh37: 11:47469479-47469479 GRCh38: 11:47447927-47447927
2	RAPSN	NM_005055.5(RAPSN):c.566C>T (p.Ala189Val)	SNV	Pathogenic	8059	rs121909257	GRCh37: 11:47464332-47464332 GRCh38: 11:47442780-47442780
3	RAPSN	NM_005055.5(RAPSN):c.1177_1178del (p.Asn393fs)	DEL	Pathogenic	545747	rs1555142142	GRCh37: 11:47459587-47459588 GRCh38: 11:47438036-47438037
4	RAPSN	NM_005055.5(RAPSN):c.1045G>A (p.Val349Ile)	SNV	Uncertain Significance	1727211		GRCh37: 11:47460404-47460404 GRCh38: 11:47438853-47438853
5	RAPSN	NM_005055.5(RAPSN):c.1041G>A (p.Ala347=)	SNV	Uncertain Significance	259623	rs149683345	GRCh37: 11:47460408-47460408 GRCh38: 11:47438857-47438857
6	RAPSN	NM_005055.5(RAPSN):c.456T>C (p.Tyr152=)	SNV	Benign	130091	rs7111873	GRCh37: 11:47469439-47469439 GRCh38: 11:47447887-47447887
7	RAPSN	NM_005055.5(RAPSN):c.691-11del	DEL	Benign	197249	rs34729771	GRCh37: 11:47463484-47463484 GRCh38: 11:47441932-47441932
8	RAPSN	NM_005055.5(RAPSN):c.*57C>T	SNV	Benign	304968	rs45617144	GRCh37: 11:47459469-47459469 GRCh38: 11:47437918-47437918
9	RAPSN	NM_005055.5(RAPSN):c.1143T>C (p.Pro381=)	SNV	Benign	130089	rs7126210	GRCh37: 11:47460306-47460306 GRCh38: 11:47438755-47438755
10	RAPSN	NM_005055.5(RAPSN):c.855G>A (p.Gln285=)	SNV	Benign	130092	rs45603036	GRCh37: 11:47463220-47463220 GRCh38: 11:47441668-47441668
11	RAPSN	NM_005055.5(RAPSN):c.193-15C>T	SNV	Benign	259627	rs45547231	GRCh37: 11:47469717-47469717 GRCh38: 11:47448165-47448165
12	RAPSN	NM_005055.5(RAPSN):c.172C>T (p.Arg58Cys)	SNV	Benign	130090	rs34312154	GRCh37: 11:47470345-47470345 GRCh38: 11:47448793-47448793
13	RAPSN	NG_008312.1(RAPSN):g.5005A>G	SNV	Not Provided	8051	rs786200905	GRCh37: 11:47470726-47470726 GRCh38: 11:47449174-47449174

UniProtKB/Swiss-Prot genetic disease variations for Fetal Akinesia Deformation Sequence 2:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	RAPSN	p.Phe139Ser	VAR_043899	rs121909256
2	RAPSN	p.Ala189Val	VAR_043902	rs121909257

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Expression for Fetal Akinesia Deformation Sequence 2

Search GEO for disease gene expression data for Fetal Akinesia Deformation Sequence 2.

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Pathways for Fetal Akinesia Deformation Sequence 2

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GO Terms for Fetal Akinesia Deformation Sequence 2

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Sources for Fetal Akinesia Deformation Sequence 2

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

FADS2 MCID: FTL070 MIFTS: 38	Fetal Akinesia Deformation Sequence 2 (FADS2) Categories: Fetal diseases, Genetic diseases, Mental diseases, Rare diseases, Respiratory diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Fetal Akinesia Deformation Sequence 2 (FADS2)

Aliases & Classifications for Fetal Akinesia Deformation Sequence 2

MalaCards integrated aliases for Fetal Akinesia Deformation Sequence 2:

Characteristics:

Inheritance:

Classifications:

External Ids:

Summaries for Fetal Akinesia Deformation Sequence 2

Related Diseases for Fetal Akinesia Deformation Sequence 2

Diseases in the Fetal Akinesia Deformation Sequence 1 family:

Diseases related to Fetal Akinesia Deformation Sequence 2 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Fetal Akinesia Deformation Sequence 2:

Symptoms & Phenotypes for Fetal Akinesia Deformation Sequence 2

Human phenotypes related to Fetal Akinesia Deformation Sequence 2:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Fetal Akinesia Deformation Sequence 2

Interventional clinical trials:

Genetic Tests for Fetal Akinesia Deformation Sequence 2

Genetic tests related to Fetal Akinesia Deformation Sequence 2:

Anatomical Context for Fetal Akinesia Deformation Sequence 2

Organs/tissues related to Fetal Akinesia Deformation Sequence 2:

Publications for Fetal Akinesia Deformation Sequence 2

Articles related to Fetal Akinesia Deformation Sequence 2:

Genes for Fetal Akinesia Deformation Sequence 2

Genes related to Fetal Akinesia Deformation Sequence 2 (1 elite genes):

Variations for Fetal Akinesia Deformation Sequence 2

ClinVar genetic disease variations for Fetal Akinesia Deformation Sequence 2:

UniProtKB/Swiss-Prot genetic disease variations for Fetal Akinesia Deformation Sequence 2:

Expression for Fetal Akinesia Deformation Sequence 2

Pathways for Fetal Akinesia Deformation Sequence 2

GO Terms for Fetal Akinesia Deformation Sequence 2

Sources for Fetal Akinesia Deformation Sequence 2