Multiple Pterygium Syndrome Lethal Type malady

NIH Rare Diseases: Multiple pterygium syndrome lethal type is a very rare genetic condition affecting the skin, muscles and skeleton. It is characterized by minor facial abnormalities, prenatal growth deficiency, spine defects, joint contractures, and webbing (pterygia) of the neck, elbows, back of the knees, armpits, and fingers.  Fetuses with this condition are usually not born. Some of the prenatal complications include cystic hygroma, hydrops, diaphragmatic hernia, polyhydramnios, underdevelopment of the heart and lungs, microcephaly, bone fusions, joint dislocations, spinal fusion, and bone fractures. Both X-linked and autosomal recessive inheritance have been proposed. Mutations in the CHRNG, CHRNA1, and CHRND genes have been found to cause this condition.³⁰

MalaCards: Multiple Pterygium Syndrome Lethal Type, also known as multiple pterygium syndrome, lethal type, is related to multiple pterygium syndrome escobar type and fetal akinesia deformation sequence. An important gene associated with Multiple Pterygium Syndrome Lethal Type is CHRND (cholinergic receptor, nicotinic, delta (muscle)), and among its related pathways are Highly sodium permeable acetylcholine nicotinic receptors and Calcium channels. The compounds galantamine and alpha-conotoxin ei have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and skin.

OMIM: 253290

multiple pterygium syndrome lethal type 30 multiple pterygium syndrome, lethal type 33 43 lethal multiple pterygium syndrome 30 16

pterygium syndrome multiple lethal type 30 pterygium 43 lmps 30

Diseases related to multiple pterygium syndrome lethal type by text searches and GeneDecks gene sharing:

(show top 50)    (show all 81)

id	Related Disease	Score	Top Affiliating Genes
1	multiple pterygium syndrome escobar type	32.0	CHRNG, CHRND
2	fetal akinesia deformation sequence	12.4	CHRNG, CHRND
3	cystic lymphangioma	12.4	CHRND, CHRNG
4	lymphangioma	12.3	CHRND, CHRNG
5	oligohydramnios	12.3	CHRNG, CHRND
6	arthrogryposis	12.2	CHRND, CHRNG
7	nicotine dependence	12.2	CHRND, CHRNG
8	congenital myasthenic syndrome	12.1	CHRND, CHRNG
9	ptosis	12.0	CHRND, CHRNG
10	myasthenia gravis	11.8	CHRND, CHRNG
11	pterygium	10.9
12	popliteal pterygium syndrome	9.6
13	carcinoma	9.1
14	nasopharyngitis	8.9
15	chrna1-related multiple pterygium syndrome, lethal type	8.8
16	chrnd-related multiple pterygium syndrome, lethal type	8.8
17	progressive peripheral pterygium	7.6
18	antecubital pterygium	7.4
19	central pterygium	7.1
20	double pterygium	7.1
21	multiple pterygium syndrome aslan type	7.1
22	multiple pterygium syndrome x-linked	7.1
23	popliteal pterygium syndrome lethal type	7.1
24	van der woude syndrome	7.1
25	diabetes mellitus	7.1
26	hodgkin's lymphoma	7.1
27	hepatitis	7.1
28	hepatitis b	6.8
29	pterygium colli mental retardation digital anomalies	6.7
30	pterygium of the conjunctiva and cornea	6.7
31	multiple pterygium syndrome, dominant	6.7
32	leukemia	6.4
33	melanoma	6.4
34	renal cell carcinoma	6.4
35	spondylohypoplasia, arthrogryposis and popliteal pterygium	6.2
36	ankylosing spondylitis	5.9
37	arthritis	5.9
38	burkitt's lymphoma	5.9
39	esophagitis	5.9
40	gastric cancer	5.9
41	hepatocellular carcinoma	5.9
42	hepatitis b virus infection	5.9
43	leiomyosarcoma	5.9
44	multiple sclerosis	5.9
45	mycobacterium tuberculosis	5.9
46	spondylitis	5.9
47	sarcoidosis	5.9
48	tuberculosis	5.9
49	cholesterol	5.3
50	corneal disease	5.3

Clinical features from OMIM: 253290

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to multiple pterygium syndrome lethal type:

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Genes related to multiple pterygium syndrome lethal type according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	CHRND	cholinergic receptor, nicotinic, delta (muscle)	11.1	Summaries
2	CHRNG	cholinergic receptor, nicotinic, gamma (muscle)	11.1

Pathways related to multiple pterygium syndrome lethal type according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Highly sodium permeable acetylcholine nicotinic receptors38	9.2	CHRNG, CHRND
2	Calcium channels10	9.1	CHRNG, CHRND
3	Intracellular Calcium Signaling36	9.1	CHRNG, CHRND
4	Neuroactive ligand-receptor interaction20	9.0	CHRNG, CHRND
5	eNOS Signaling36	8.8	CHRNG, CHRND

Compounds related to multiple pterygium syndrome lethal type according to GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	galantamine32 34 9 9	12.1	CHRND, CHRNG
2	alpha-conotoxin ei42	8.8	CHRND, CHRNG

Cellular components related to multiple pterygium syndrome lethal type according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	cell junction	GO:030054	9.1	CHRND, CHRNG
2	postsynaptic membrane	GO:045211	8.8	CHRND, CHRNG

Biological processes related to multiple pterygium syndrome lethal type according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	synaptic transmission	GO:007268	9.1	CHRND, CHRNG
2	muscle contraction	GO:006936	9.0	CHRND, CHRNG
3	transport	GO:006810	8.8	CHRND, CHRNG

Molecular functions related to multiple pterygium syndrome lethal type according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	acetylcholine-activated cation-selective channel activity	GO:004889	9.1	CHRND, CHRNG