Fetal Akinesia Deformation Sequence malady

NIH Rare Diseases: Fetal akinesia deformation sequence (FADS) is a condition characterized by decreased fetal movement (fetal akinesia) as well as intra-uterine growth restriction (IUGR), multiple joint contractures (arthrogryposis), facial anomalies, underdevelopment of the lungs (pulmonary hypoplasia) and other developmental abnormalities. It is generally accepted that this condition is not a true diagnosis or a specific syndrome, but rather a description of a group of abnormalities resulting from fetal akinesia. About 30% of affected individuals are stillborn; many liveborn infants survive only a short time due to complications of pulmonary hypoplasia. FADS may be inherited in an autosomal recessive manner in some cases and may sometimes be caused by mutations in the RAPSN or DOK7 genes.³⁰

MalaCards: Fetal Akinesia Deformation Sequence, also known as arthrogryposis multiplex congenita with pulmonary hypoplasia, is related to multiple pterygium syndrome lethal type and lymphangioma. An important gene associated with Fetal Akinesia Deformation Sequence is RAPSN (receptor-associated protein of the synapse), and among its related pathways are Calcium channels and Highly sodium permeable acetylcholine nicotinic receptors. The compounds alpha-conotoxin ei and galantamine have been mentioned in the context of this disorder. Affiliated tissues include lung and fetal lung, and related mouse phenotype respiratory system.

Wikipedia: Arthrogryposis, also known as arthrogryposis multiplex congenita (AMC), is a rare congenital disorder...⁴⁴ more...

OMIM: 208150

fetal akinesia deformation sequence 30 33 arthrogryposis multiplex congenita with pulmonary hypoplasia 30 pena-shokeir syndrome, type 1 30

pena-shokeir syndrome type i 43 fetal akinesia sequence 30 fads 30

Diseases related to fetal akinesia deformation sequence by text searches and GeneDecks gene sharing:

(show top 50)    (show all 58)

id	Related Disease	Score	Top Affiliating Genes
1	multiple pterygium syndrome lethal type	12.5	CHRND, CHRNG
2	lymphangioma	12.3	CHRNG, CHRND
3	ptosis	12.3	CHRND, CHRNG
4	oligohydramnios	12.2	CHRNG, CHRND
5	cystic lymphangioma	12.1	CHRNG, CHRND, RAPSN
6	nicotine dependence	12.0	CHRNG, CHRND
7	arthrogryposis	12.0	CHRNG, CHRND, RAPSN
8	multiple pterygium syndrome escobar type	11.9	RAPSN, CHRND, CHRNG
9	myasthenic syndrome	11.9	CHRND, DOK7, RAPSN
10	myasthenia gravis	11.3	CHRNG, DOK7, CHRND, RAPSN
11	congenital myasthenic syndrome	11.3	CHRND, DOK7, RAPSN, CHRNG
12	cockayne syndrome type ii	9.0
13	dok7-related fetal akinesia deformation sequence	9.0
14	rapsn-related fetal akinesia deformation sequence	9.0
15	cholesterol	7.9
16	eczema	7.7
17	familial combined hyperlipidemia	7.6
18	hyperlipidemia	7.6
19	macular dystrophy	7.4
20	vitelliform macular dystrophy	7.4
21	attention deficit hyperactivity disorder	7.4
22	cystic fibrosis	7.4
23	fibrosis	7.4
24	hepatitis	7.4
25	acyl-coa dehydrogenase	6.8
26	alzheimer's disease	6.8
27	carcinoma	6.8
28	neuronitis	6.8
29	adhd	6.5
30	age related macular degeneration	6.5
31	crohn's disease	6.5
32	hepatitis b	6.5
33	hepatocellular carcinoma	6.5
34	insulin resistance	6.5
35	macular degeneration	6.5
36	metabolic syndrome x	6.5
37	obesity	5.9
38	bipolar disorder	5.9
39	coronary heart disease	5.9
40	myocardial infarction	5.0
41	2-hydroxyglutaric aciduria	5.0
42	myocarditis	5.0
43	acute myocarditis	5.0
44	neuroblastoma	5.0
45	alzheimer disease familial	5.0
46	type 2 diabetes mellitus	5.0
47	antley-bixler syndrome	5.0
48	atherosclerosis	5.0
49	breast cancer	5.0
50	cardiomyopathy	5.0

Clinical features from OMIM: 208150

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to fetal akinesia deformation sequence:

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MGI Mouse Phenotypes related to fetal akinesia deformation sequence:

²⁵

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	respiratory system phenotype	MP:0005388	8.6	RAPSN, DOK7, CHRNG

Articles related to fetal akinesia deformation sequence:

id	Title	Authors	Year	Affiliating Genes
1	Germline mutation in DOK7 associated with fetal akinesia deformation sequence. (19261599)	Vogt J.... Maher E.R.	2009	DOK7, CHRNG
2	Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders. (18252226)	Michalk A.... Hoffmann K.	2008	CHRND, CHRNA1, RAPSN

Genes related to fetal akinesia deformation sequence according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	RAPSN	receptor-associated protein of the synapse	11.1	Publications
2	CHRND	cholinergic receptor, nicotinic, delta (muscle)	11.1	Publications
3	CHRNG	cholinergic receptor, nicotinic, gamma (muscle)	11.1	Publications
4	DOK7	docking protein 7	11.1	Publications
5	CHRNA1	cholinergic receptor, nicotinic, alpha 1 (muscle)	10.2	Publications

Pathways related to fetal akinesia deformation sequence according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Calcium channels10	9.3	CHRND, CHRNG
2	Highly sodium permeable acetylcholine nicotinic receptors38	9.0	CHRND, CHRNG

Compounds related to fetal akinesia deformation sequence according to GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	alpha-conotoxin ei42	9.3	CHRND, CHRNG
2	galantamine32 34 9 9	11.5	CHRND, CHRNA1, CHRNG

Cellular components related to fetal akinesia deformation sequence according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	acetylcholine-gated channel complex	GO:005892	9.1	CHRNA1, CHRND
2	neuromuscular junction	GO:031594	8.6	DOK7, CHRNA1, RAPSN
3	postsynaptic membrane	GO:045211	8.4	CHRNA1, CHRND, RAPSN, CHRNG
4	cell junction	GO:030054	7.6	CHRNA1, CHRNG, DOK7, RAPSN, CHRND
5	plasma membrane	GO:005886	7.5	CHRNG, DOK7, CHRNA1, CHRND, RAPSN

Biological processes related to fetal akinesia deformation sequence according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	muscle contraction	GO:006936	9.3	CHRND, CHRNG
2	synaptic transmission	GO:007268	8.6	RAPSN, CHRND, CHRNG

Molecular functions related to fetal akinesia deformation sequence according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	acetylcholine-activated cation-selective channel activity	GO:004889	9.3	CHRND, CHRNG