Pervasive Developmental Disorder malady

NINDS: The diagnostic category of pervasive developmental disorders (PDD) refers to a group of disorders characterized by delays in the development of socialization and communication skills. Parents may note symptoms as early as infancy, although the typical age of onset is before 3 years of age. Symptoms may include problems with using and understanding language; difficulty relating to people, objects, and events; unusual play with toys and other objects; difficulty with changes in routine or familiar surroundings, and repetitive body movements or behavior patterns. Autism (a developmental brain disorder characterized by impaired social interaction and communication skills, and a limited range of activities and interests) is the most characteristic and best studied PDD. Other types of PDD include Asperger's Syndrome, Childhood Disintegrative Disorder, and Rett's Syndrome. Children with PDD vary widely in abilities, intelligence, and behaviors. Some children do not speak at all, others speak in limited phrases or conversations, and some have relatively normal language development. Repetitive play skills and limited social skills are generally evident. Unusual responses to sensory information, such as loud noises and lights, are also common.³¹

MalaCards: Pervasive Developmental Disorder, also known as pervasive development disorder, is related to atypical autism and autism spectrum disorder. An important gene associated with Pervasive Developmental Disorder is SCT (secretin), and among its related pathways are Citalopram Pathway, Pharmacokinetics and GABA signaling in brain. The compounds Zimelidine and protriptyline have been mentioned in the context of this disorder. Affiliated tissues include brain, and related mouse phenotypes are no phenotypic analysis and hearing/vestibular/ear.

Disease Ontology: A developmental disorder of mental health that refers to a group of five disorders characterized by impairments in socialization and communication, as well as restricted interests and repetitive behaviors.⁶

Wikipedia: The diagnostic category pervasive developmental disorders (PDD), as opposed to specific developmental...⁴⁴ more...

Aliases & Descriptions:

pervasive developmental disorder 6 32 pervasive development disorder 6 43

pervasive developmental disorders 31

Diseases related to pervasive developmental disorder by text searches and GeneDecks gene sharing:

(show all 32)

id	Related Disease	Score	Top Affiliating Genes
1	atypical autism	30.8	NLGN4X, NLGN3, TMEM185A, GABRB3
2	autism spectrum disorder	30.3	GABRB3, FOXP2, MECP2, RPL10, NLGN3, SHANK2
3	tourette syndrome	29.5	NLGN4X, TDO2, SLC6A4
4	autistic disorder	28.0	GABRB3, SHANK2, NLGN4X, NLGN3, MECP2, FOXP2
5	language disorder	13.2	MECP2, FOXP2
6	developmental disabilities	13.1	SCT, MECP2, FOXP2
7	growth mental deficiency syndrome of myhre	12.9	TMEM185A, MECP2, SLC6A4
8	insomnia	12.9	GABRB3, SLC6A4
9	asperger syndrome	12.8	MECP2, NLGN4X, SLC6A4, NLGN3
10	mental retardation, x-linked	12.8	NLGN4X, FRAXE, MECP2
11	premature ovarian failure	12.6	FRAXA, FRAXE, RPL10, FOXP2
12	polyneuropathy	12.6	SLC6A4, ARSA, SCT
13	metachromatic leukodystrophy	12.5	SLC6A4, ARSA
14	fragile x syndrome	12.4	MECP2, FRAXE, FRAXA, TMEM185A, SLC6A4
15	mayer-rokitansky-kuster-hauser syndrome	12.3	SLC6A4, TBX1, MECP2, FRAXA
16	alcoholism	12.2	SCT, GABRB3, SLC6A4, TDO2, ARSA
17	tremor	12.2	ARSA, ABCB1, SLC6A4, FRAXA
18	seizures	12.0	ARSA, ABCB1, SLC6A4, MECP2, GABRB3
19	mental retardation syndrome	11.9	FRAXE, FRAXA, MECP2, NLGN3, TBX1, NLGN4X
20	bipolar disorder	11.6	GABRB3, TDO2, ABCB1, SLC6A4, TBX1
21	attention deficit hyperactivity disorder	11.4	MECP2, NLGN4X, SLC6A4, SLC9A9, TDO2, ABCB1
22	cerebritis	11.0	FOXP2, SHANK2, MECP2, SLC6A4, ABCB1, ARSA
23	schizophrenia	10.5	NLGN4X, ABCB1, TDO2, GABRB3, SLC6A4, MECP2
24	intellectual disability	10.0	MECP2, TBX1, NLGN3, NLGN4X, SLC9A9, SLC6A4
25	neuronitis	8.9	SLC6A4, TDO2, ABCB1, SHANK2, NLGN4X, SLC9A9
26	pervasive developmental disorder not otherwise specified	8.8
27	landau-kleffner syndrome	7.8
28	congenital heart disease, atrial septal defect	6.9
29	neuroaxonal dystrophy, infantile	6.9
30	specific developmental disorder	6.9
31	stereotypic movement disorder	6.9
32	camurati-engelmann disease	6.7

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to pervasive developmental disorder:

²²

MGI Mouse Phenotypes related to pervasive developmental disorder:

²⁵

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	no phenotypic analysis	MP:0003012	8.4	ABCB1, NLGN3, TBX1, MECP2, FOXP2, GABRB3
2	hearing/vestibular/ear phenotype	MP:0005377	8.2	GABRB3, ABCB1, TBX1, MECP2, ARSA, FOXP2
3	nervous system phenotype	MP:0003631	7.5	SLC6A4, TDO2, NLGN3, TBX1, MECP2, ARSA
4	behavior/neurological phenotype	MP:0005386	7.1	SCT, GABRB3, SLC6A4, TDO2, ABCB1, NLGN3

Articles related to pervasive developmental disorder:

(show all 11)

id	Title	Authors	Year	Affiliating Genes
1	Possible influence of variant of the P-glycoprotein g ene (MDR1/ABCB1) on clinical response to guanfacine in children with pervasive developmental disorders and hyperactivity. (20166790)	McCracken J.T.... Scahill L.	2010	ABCB1
2	Methyl-CpG-binding Protein 2 (MECP2) Gene Mutations in an Italian Sample of Patients With Pervasive Developmental Disorder and Mental Retardation. (19189931)	Parmeggiani A.... Sangiorgi S.	2009	MECP2
3	The diagnostic utility of a genetics evaluation in children with pervasive developmental disorders. (16418599)	Abdul-Rahman O.A.... Hudgins L.	2006	MECP2
4	Serotonin transporter intron 2 polymorphism associated with rigid-compulsive behaviors in Dutch individuals with pervasive developmental disorder. (15635668)	Mulder E.J.... Minderaa R.B.	2005	SLC6A4
5	Pharmacotherapy of pervasive developmental disorders in children and adolescents. (15584771)	Masi G.	2004	SCT
6	Genetic and neurological evaluation in a sample of individuals with pervasive developmental disorders. (12806492)	Steiner C.E.... Marques-de-Faria A.P.	2003	TMEM185A, FRAXE, FRAXA
7	Increased prevalence of pervasive developmental disorders in children with slight arylsulfatase A deficiency. (12427515)	Alessandri M.G.... Fornai F.	2002	ARSA
8	Pervasive developmental disorders and GABAergic system in patients with inverted duplicated chromosome 15. (11785506)	Borgatti R.... Ferrarese C.	2001	GABRB3
9	Lack of benefit of a single dose of synthetic human secretin in the treatment of autism and pervasive developmental disorder. (10588965)	Sandler A.D.... Bodfish J.W.	1999	SCT
10	Outcomes of genetic evaluation in children with pervasive developmental disorder. (9809261)	Chudley A.E.... Chodirker B.N.	1998	TBX1
11	Clinical and genetic relationships between autism-pervasive developmental disorder and Tourette syndrome: a study of 19 cases. (2063922)	Comings D.E.... Comings B.G.	1991	TDO2

Genes related to pervasive developmental disorder according to GeneCards:

(show all 18)

id	Symbol	Description	Score	GeneCards Section Context
1	SCT	secretin	11.0	Publications
2	NLGN4X	neuroligin 4, X-linked	11.0
3	MECP2	methyl CpG binding protein 2 (Rett syndrome)	11.0	Publications
4	GABRB3	gamma-aminobutyric acid (GABA) A receptor, beta 3	11.0	Publications
5	SLC6A4	solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	11.0	Publications
6	FOXP2	forkhead box P2	11.0
7	FRAXF	fragile site, folic acid type, rare, fra(X)(q28) F	11.0	Publications
8	FRAXE	fragile site, folic acid type, rare, fra(X)(q28) E	11.0	Publications
9	FRAXA	fragile site, folic acid type, rare, fra(X)(q27.3) A (macroorchidism, mental retardation)	11.0	Publications
10	TMEM185A	transmembrane protein 185A	11.0	Publications
11	TDO2	tryptophan 2,3-dioxygenase	11.0	Publications
12	RPL10	ribosomal protein L10	11.0
13	NLGN3	neuroligin 3	11.0
14	TBX1	T-box 1	11.0	Publications
15	ARSA	arylsulfatase A	11.0	Publications
16	SHANK2	SH3 and multiple ankyrin repeat domains 2	11.0
17	SLC9A9	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	11.0
18	ABCB1	ATP-binding cassette, sub-family B (MDR/TAP), member 1	11.0	Publications

Pathways related to pervasive developmental disorder according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Citalopram Pathway, Pharmacokinetics34	9.7	ABCB1, SLC6A4
2	GABA signaling in brain10	9.1	MECP2, NLGN3, NLGN4X, GABRB3

Compounds related to pervasive developmental disorder according to GeneDecks:

(show all 21)

id	Compound	Score	Top Affiliating Genes
1	Zimelidine9 9	11.0	SLC6A4, ABCB1
2	protriptyline34 9 9	12.0	SLC6A4, ABCB1
3	sodium bicarbonate32 9 9	12.0	SCT, SLC6A4
4	buspirone32 9 9	12.0	SCT, ABCB1
5	ivermectin32 9 9	12.0	ABCB1, GABRB3
6	reboxetine32 9 9	12.0	SLC6A4, ABCB1
7	dextromethorphan34 9 18 9	13.0	SLC6A4, ABCB1
8	amantadine32 9 9	12.0	ABCB1, SCT
9	trazodone32 9 9	12.0	SLC6A4, ABCB1
10	maprotiline32 9 9	11.9	SLC6A4, ABCB1
11	nefazodone34 32 9 9	12.9	ABCB1, SLC6A4
12	gaba32 42	10.9	SCT, MECP2, SLC6A4, GABRB3
13	trimipramine32 34 9 9	12.9	ABCB1, SLC6A4
14	risperidone32 34 9 18 9	13.9	SCT, ABCB1, SLC6A4
15	fluoxetine32 34 9 9	12.8	SCT, ABCB1, SLC6A4
16	venlafaxine32 34 9 18 9	13.8	SLC6A4, ABCB1
17	clonidine32 9 9	11.8	SLC6A4, ABCB1, SCT
18	sertraline32 34 9 18 9	13.8	ABCB1, SLC6A4
19	fluvoxamine32 34 9 9	12.7	SLC6A4, ABCB1
20	nitrazepam32 9 9	11.6	ABCB1, GABRB3
21	clomipramine32 34 9 9	12.4	SLC6A4, ABCB1

Cellular components related to pervasive developmental disorder according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	excitatory synapse	GO:060076	9.6	NLGN3, NLGN4X
2	cell junction	GO:030054	9.0	NLGN3, NLGN4X, SHANK2, GABRB3

Biological processes related to pervasive developmental disorder according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	cerebellum development	GO:021549	10.0	MECP2, NLGN4X
2	presynaptic membrane assembly	GO:097105	9.9	NLGN3, NLGN4X
3	regulation of respiratory gaseous exchange by neurological system process	GO:002087	9.8	NLGN3, MECP2
4	synapse organization	GO:050808	9.8	NLGN3, NLGN4X
5	positive regulation of synapse assembly	GO:051965	9.5	MECP2, NLGN3
6	social behavior	GO:035176	9.1	MECP2, TBX1, NLGN3, NLGN4X, SLC6A4

Molecular functions related to pervasive developmental disorder according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	neurexin family protein binding	GO:042043	9.9	NLGN3, NLGN4X