Mental Retardation, X-Linked, Syndromic, Hedera Type disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MRXSH MCID: MNT192 MIFTS: 40	Mental Retardation, X-Linked, Syndromic, Hedera Type (MRXSH) Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Mental Retardation, X-Linked, Syndromic, Hedera Type

MalaCards integrated aliases for Mental Retardation, X-Linked, Syndromic, Hedera Type:

Name: Mental Retardation, X-Linked, Syndromic, Hedera Type ⁵⁶ ¹² ²⁹ ⁶ ³⁹

Mental Retardation, X-Linked, with Epilepsy ⁷³ ¹³ ⁷¹

Mrxsh ⁵⁶ ¹² ⁵⁸

Mrxe ⁵⁶ ¹² ⁷³

Syndromic X-Linked Intellectual Disability Hedera Type ¹² ¹⁵

Mental Retardation, X-Linked, with Epilepsy; Mrxe ⁵⁶

X-Linked Intellectual Disability, Hedera Type ⁵⁸

Characteristics:

Orphanet epidemiological data:

⁵⁸

x-linked intellectual disability, hedera type
Inheritance: X-linked recessive; Age of onset: Infancy;

OMIM:

⁵⁶

Miscellaneous:
neurodegeneration
variable expressivity
onset in infancy
progressive disorder
three unrelated families have been reported (last curated april 2020)

Inheritance:
x-linked recessive

HPO:

³¹

mental retardation, x-linked, syndromic, hedera type:
Onset and clinical course variable expressivity infantile onset
Inheritance x-linked recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Mental diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁸

Rare neurological diseases

External Ids:

Disease Ontology ¹² DOID:0060806

OMIM ⁵⁶ 300423

OMIM Phenotypic Series ⁵⁶ PS309510

MeSH ⁴³ D038901

Orphanet ⁵⁸ ORPHA93952

MedGen ⁴¹ C1845543

UMLS ⁷¹ C1845543

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Summaries for Mental Retardation, X-Linked, Syndromic, Hedera Type

OMIM : ⁵⁶ The Hedera type of X-linked syndromic mental retardation (MRXSH) is characterized by global developmental delay apparent from infancy and progressive neurologic decline with abnormal movements, spasticity, and seizures. Brain imaging shows volume loss of cortical white and gray matter, thin corpus callosum, and myelination defects, consistent with a neurodegenerative process. Only males are affected (summary by Hirose et al., 2019). (300423)

MalaCards based summary : Mental Retardation, X-Linked, Syndromic, Hedera Type, also known as mental retardation, x-linked, with epilepsy, is related to electroclinical syndrome and infancy electroclinical syndrome, and has symptoms including drop attack An important gene associated with Mental Retardation, X-Linked, Syndromic, Hedera Type is ATP6AP2 (ATPase H+ Transporting Accessory Protein 2), and among its related pathways/superpathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Insulin receptor recycling. Affiliated tissues include brain, and related phenotypes are intellectual disability and bilateral tonic-clonic seizure

Disease Ontology : ¹² A syndromic X-linked intellectual disability characterized by mild to moderate mental retardation and epilepsy that has material basis in mutation in the ATP6AP2 gene on chromosome Xp11.

UniProtKB/Swiss-Prot : ⁷³ Mental retardation, X-linked, with epilepsy: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXE patients manifest mild to moderate mental retardation associated with epilepsy, delays in motor milestones and speech acquisition in infancy.

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Related Diseases for Mental Retardation, X-Linked, Syndromic, Hedera Type

Diseases related to Mental Retardation, X-Linked, Syndromic, Hedera Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)

#	Related Disease	Score	Top Affiliating Genes
1	electroclinical syndrome	10.1	GABRA1 ARX
2	infancy electroclinical syndrome	10.0	GABRA1 ARX
3	early myoclonic encephalopathy	9.7	MT-ATP6 GABRA1 ARX
4	adolescence-adult electroclinical syndrome	9.6	LGI1 GABRA1
5	neonatal period electroclinical syndrome	9.5	LGI1 GABRA1 ARX
6	benign familial infantile epilepsy	9.5	LGI1 GABRA1
7	generalized epilepsy with febrile seizures plus	9.4	LGI1 GABRA1 ARX
8	epileptic encephalopathy, early infantile, 6	9.4	LGI1 GABRA1 ARX
9	autosomal dominant nocturnal frontal lobe epilepsy	9.3	LGI1 GABRA1
10	early infantile epileptic encephalopathy	9.3	LGI1 GABRA1 ARX
11	epilepsy	9.2	LGI1 GABRA1 ATP6AP2 ARX

Graphical network of the top 20 diseases related to Mental Retardation, X-Linked, Syndromic, Hedera Type:

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Symptoms & Phenotypes for Mental Retardation, X-Linked, Syndromic, Hedera Type

Human phenotypes related to Mental Retardation, X-Linked, Syndromic, Hedera Type:

⁵⁸ ³¹ (show all 36)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	intellectual disability ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001249
2	bilateral tonic-clonic seizure ³¹	hallmark (90%)		HP:0002069
3	delayed speech and language development ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000750
4	motor delay ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001270
5	unsteady gait ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002317
6	extrapyramidal muscular rigidity ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0007076
7	atonic seizure ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0010819
8	hyporeflexia of lower limbs ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002600
9	hyporeflexia of upper limbs ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0012391
10	scoliosis ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002650
11	pes planus ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001763
12	slurred speech ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001350
13	obesity ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001513
14	left ventricular hypertrophy ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001712
15	dysmetria ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001310
16	weak voice ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001621
17	babinski sign ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0003487
18	cerebellar atrophy ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001272
19	hypoplasia of the corpus callosum ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002079
20	frequent falls ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002359
21	echolalia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0010529
22	inability to walk ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002540
23	drooling ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002307
24	apraxia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002186
25	absent achilles reflex ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0003438
26	hypomimic face ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000338
27	action tremor ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002345
28	calcaneovalgus deformity ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001848
29	astereognosia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0010527
30	agraphesthesia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0011812
31	gait disturbance ⁵⁸ ³¹		Occasional (29-5%)	HP:0001288
32	hyporeflexia ³¹			HP:0001265
33	generalized tonic-clonic seizures ⁵⁸		Very frequent (99-80%)
34	cerebral atrophy ³¹			HP:0002059
35	parkinsonism ³¹			HP:0001300
36	bradykinesia ³¹			HP:0002067

Symptoms via clinical synopsis from OMIM:

⁵⁶

Neurologic Central Nervous System:
spasticity
cerebellar atrophy
cerebral atrophy
abnormal myelination
delayed motor development
more

Neurologic Peripheral Nervous System:
hyporeflexia (family a)

Clinical features from OMIM:

300423

UMLS symptoms related to Mental Retardation, X-Linked, Syndromic, Hedera Type:

drop attack

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Drugs & Therapeutics for Mental Retardation, X-Linked, Syndromic, Hedera Type

Search Clinical Trials , NIH Clinical Center for Mental Retardation, X-Linked, Syndromic, Hedera Type

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Genetic Tests for Mental Retardation, X-Linked, Syndromic, Hedera Type

Genetic tests related to Mental Retardation, X-Linked, Syndromic, Hedera Type:

#	Genetic test	Affiliating Genes
1	Mental Retardation, X-Linked, Syndromic, Hedera Type ²⁹	ATP6AP2

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Anatomical Context for Mental Retardation, X-Linked, Syndromic, Hedera Type

MalaCards organs/tissues related to Mental Retardation, X-Linked, Syndromic, Hedera Type:

⁴⁰

Brain

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Publications for Mental Retardation, X-Linked, Syndromic, Hedera Type

Articles related to Mental Retardation, X-Linked, Syndromic, Hedera Type:

#	Title	Authors	PMID	Year
1	ATP6AP2 variant impairs CNS development and neuronal survival to cause fulminant neurodegeneration. ⁶ ⁵⁶	Hirose T...Groszer M	30985297	2019
2	A splice site mutation in ATP6AP2 causes X-linked intellectual disability, epilepsy, and parkinsonism. ⁵⁶ ⁶	Gupta HV...Virmani T	26467484	2015
3	A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor. ⁶ ⁵⁶	Ramser J...Nguyen G	15746149	2005
4	Novel mental retardation-epilepsy syndrome linked to Xp21.1-p11.4. ⁶ ⁵⁶	Hedera P...Fink JK	11782983	2002
5	Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS). ⁶¹	Korvatska O...Raskind WH	23595882	2013
6	The role of individual domains and the significance of shedding of ATP6AP2/(pro)renin receptor in vacuolar H(+)-ATPase biogenesis. ⁶¹	Kinouchi K...Itoh H	24223829	2013

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Genes for Mental Retardation, X-Linked, Syndromic, Hedera Type

Genes related to Mental Retardation, X-Linked, Syndromic, Hedera Type (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ATP6AP2	ATPase H+ Transporting Accessory Protein 2	Protein Coding	1366.01	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation ⁵⁸ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)	26467484 11782983 15746149 (more) 30985297
2	ARX	Aristaless Related Homeobox	Protein Coding	5.52	DISEASES inferred ¹⁵
3	ATP6V1E2	ATPase H+ Transporting V1 Subunit E2	Protein Coding	5.39	DISEASES inferred ¹⁵
4	GABRA1	Gamma-Aminobutyric Acid Type A Receptor Subunit Alpha1	Protein Coding	5.33	DISEASES inferred ¹⁵
5	TCIRG1	T Cell Immune Regulator 1, ATPase H+ Transporting V0 Subunit A3	Protein Coding	4.96	DISEASES inferred ¹⁵
6	MT-ATP6	Mitochondrially Encoded ATP Synthase Membrane Subunit 6	Protein Coding	4.85	DISEASES inferred ¹⁵
7	BYSL	Bystin Like	Protein Coding	4.81	DISEASES inferred ¹⁵
8	LGI1	Leucine Rich Glioma Inactivated 1	Protein Coding	4.81	DISEASES inferred ¹⁵
9	ATP6V0A1	ATPase H+ Transporting V0 Subunit A1	Protein Coding	4.63	DISEASES inferred ¹⁵

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Variations for Mental Retardation, X-Linked, Syndromic, Hedera Type

ClinVar genetic disease variations for Mental Retardation, X-Linked, Syndromic, Hedera Type:

⁶ (show all 25) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	ATP6AP2	NM_005765.3(ATP6AP2):c.301-11_301-10del	deletion	Pathogenic	869368		X:40456490-40456491	X:40597238-40597239
2	ATP6AP2	NM_005765.3(ATP6AP2):c.321C>T (p.Asp107=)	SNV	Pathogenic	10801	rs121918521	X:40456521-40456521	X:40597269-40597269
3	ATP6AP2	NM_005765.3(ATP6AP2):c.168+6T>A	SNV	Pathogenic	375269	rs1057519331	X:40448374-40448374	X:40589122-40589122
4	ATP6AP2	NM_005765.3(ATP6AP2):c.490G>A (p.Val164Ile)	SNV	Conflicting interpretations of pathogenicity	204912	rs142013283	X:40456872-40456872	X:40597620-40597620
5	ATP6AP2	NM_005765.3(ATP6AP2):c.922A>C (p.Asn308His)	SNV	Conflicting interpretations of pathogenicity	380358	rs756836341	X:40464876-40464876	X:40605624-40605624
6	ATP6AP2	NM_005765.3(ATP6AP2):c.408G>A (p.Met136Ile)	SNV	Uncertain significance	465129	rs1555977799	X:40456790-40456790	X:40597538-40597538
7	ATP6AP2	NM_005765.3(ATP6AP2):c.953C>A (p.Ala318Asp)	SNV	Uncertain significance	465132	rs1555978614	X:40464907-40464907	X:40605655-40605655
8	ATP6AP2	NM_005765.3(ATP6AP2):c.840C>G (p.Ile280Met)	SNV	Uncertain significance	465131	rs1555978066	X:40460115-40460115	X:40600863-40600863
9	subset of 11 genes: BCOR , CASK , DDX3X , NYX , USP9X	NC_000023.10:g.(?_39911342)_(41782261_?)dup	duplication	Uncertain significance	533692		X:39911342-41782261
10	ATP6AP2	NM_005765.3(ATP6AP2):c.858G>A (p.Ala286=)	SNV	Uncertain significance	533691	rs1555978069	X:40460133-40460133	X:40600881-40600881
11	ATP6AP2	NC_000023.11:g.(?_40581046)_(40605775_?)dup	duplication	Uncertain significance	832810		X:40440298-40465027
12	ATP6AP2	NM_005765.3(ATP6AP2):c.50A>G (p.Asn17Ser)	SNV	Uncertain significance	862603		X:40448250-40448250	X:40588998-40588998
13	ATP6AP2	NM_005765.3(ATP6AP2):c.160G>T (p.Val54Leu)	SNV	Uncertain significance	852040		X:40448360-40448360	X:40589108-40589108
14	ATP6AP2	NM_005765.3(ATP6AP2):c.218G>A (p.Arg73Gln)	SNV	Uncertain significance	861472		X:40450535-40450535	X:40591283-40591283
15	ATP6AP2	NM_005765.3(ATP6AP2):c.1015A>G (p.Ile339Val)	SNV	Uncertain significance	854936		X:40464969-40464969	X:40605717-40605717
16	ATP6AP2	NM_005765.3(ATP6AP2):c.315T>G (p.Ser105Arg)	SNV	Uncertain significance	204917	rs745748841	X:40456515-40456515	X:40597263-40597263
17	ATP6AP2	NM_005765.3(ATP6AP2):c.463C>T (p.Arg155Cys)	SNV	Uncertain significance	204911	rs146371390	X:40456845-40456845	X:40597593-40597593
18	ATP6AP2	NM_005765.3(ATP6AP2):c.596G>A (p.Arg199His)	SNV	Uncertain significance	204918	rs751433380	X:40458851-40458851	X:40599599-40599599
19	ATP6AP2	NM_005765.3(ATP6AP2):c.516T>C (p.Ser172=)	SNV	Likely benign	759346		X:40456898-40456898	X:40597646-40597646
20	ATP6AP2	NM_005765.3(ATP6AP2):c.189C>T (p.Leu63=)	SNV	Benign/Likely benign	136463	rs150392503	X:40450506-40450506	X:40591254-40591254
21	ATP6AP2	NM_005765.3(ATP6AP2):c.38-5T>C	SNV	Benign	136465	rs190477001	X:40448233-40448233	X:40588981-40588981
22	ATP6AP2	NM_005765.3(ATP6AP2):c.1050T>C (p.Asp350=)	SNV	Benign	199113	rs79790275	X:40465004-40465004	X:40605752-40605752
23	ATP6AP2	NM_005765.3(ATP6AP2):c.268C>G (p.Pro90Ala)	SNV	Benign	95311	rs9014	X:40450585-40450585	X:40591333-40591333
24	ATP6AP2	NM_005765.3(ATP6AP2):c.285G>A (p.Ser95=)	SNV	Benign	128486	rs34217273	X:40450602-40450602	X:40591350-40591350
25	ATP6AP2	NM_005765.3(ATP6AP2):c.868G>C (p.Ala290Pro)	SNV	Benign	128487	rs35798522	X:40464822-40464822	X:40605570-40605570

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Expression for Mental Retardation, X-Linked, Syndromic, Hedera Type

Search GEO for disease gene expression data for Mental Retardation, X-Linked, Syndromic, Hedera Type.

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Pathways for Mental Retardation, X-Linked, Syndromic, Hedera Type

Pathways related to Mental Retardation, X-Linked, Syndromic, Hedera Type according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. ⁶⁵ Show member pathways Complex I biogenesis ⁶⁵ Electron Transport Chain ¹ Formation of ATP by chemiosmotic coupling ⁶⁵ Non-alcoholic fatty liver disease (NAFLD) ³⁶ Oxidative phosphorylation ³⁶ Oxidative phosphorylation ¹ Respiratory electron transport ⁶⁵ The citric acid (TCA) cycle and respiratory electron transport ⁶⁵ Thermogenesis ³⁶	12.78	TCIRG1 MT-ATP6 ATP6V1E2 ATP6V0A1 ATP6AP2
2	Insulin receptor recycling ⁶⁵ Show member pathways Collecting duct acid secretion ³⁶ Epithelial cell signaling in Helicobacter pylori infection ³⁶ Iron uptake and transport ⁶⁵ ROS, RNS production in phagocytes ⁶⁵ Transferrin endocytosis and recycling ⁶⁵ Vibrio cholerae infection ³⁶	11.99	TCIRG1 ATP6V1E2 ATP6V0A1
3	Phagosome ³⁶	11.61	TCIRG1 ATP6V1E2 ATP6V0A1
4	Synaptic vesicle cycle ³⁶ Show member pathways Synaptic Vesicle Pathway ¹	11.45	TCIRG1 ATP6V1E2 ATP6V0A1
5	Ion channel transport ⁶⁵ Show member pathways Stimuli-sensing channels ⁶⁵	11.42	TCIRG1 GABRA1 ATP6V1E2 ATP6V0A1
6	Rheumatoid arthritis ³⁶	11.1	TCIRG1 ATP6V1E2 ATP6V0A1

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GO Terms for Mental Retardation, X-Linked, Syndromic, Hedera Type

Cellular components related to Mental Retardation, X-Linked, Syndromic, Hedera Type according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	lysosomal membrane	GO:0005765	9.5	TCIRG1 ATP6V0A1 ATP6AP2
2	phagocytic vesicle membrane	GO:0030670	9.37	TCIRG1 ATP6V0A1
3	ficolin-1-rich granule membrane	GO:0101003	9.33	TCIRG1 ATP6V0A1 ATP6AP2
4	proton-transporting V-type ATPase, V0 domain	GO:0033179	9.26	TCIRG1 ATP6V0A1
5	vacuolar proton-transporting V-type ATPase, V0 domain	GO:0000220	8.96	TCIRG1 ATP6V0A1
6	vacuolar proton-transporting V-type ATPase complex	GO:0016471	8.8	TCIRG1 ATP6V0A1 ATP6AP2

Biological processes related to Mental Retardation, X-Linked, Syndromic, Hedera Type according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	ion transmembrane transport	GO:0034220	9.56	TCIRG1 GABRA1 ATP6V1E2 ATP6V0A1
2	ion transport	GO:0006811	9.55	TCIRG1 MT-ATP6 GABRA1 ATP6V1E2 ATP6V0A1
3	proton transmembrane transport	GO:1902600	9.54	TCIRG1 ATP6V1E2 ATP6V0A1
4	insulin receptor signaling pathway	GO:0008286	9.5	TCIRG1 ATP6V1E2 ATP6V0A1
5	regulation of macroautophagy	GO:0016241	9.43	ATP6V1E2 ATP6V0A1
6	vacuolar acidification	GO:0007035	9.4	TCIRG1 ATP6V0A1
7	transferrin transport	GO:0033572	9.13	TCIRG1 ATP6V1E2 ATP6V0A1
8	phagosome acidification	GO:0090383	8.8	TCIRG1 ATP6V1E2 ATP6V0A1

Molecular functions related to Mental Retardation, X-Linked, Syndromic, Hedera Type according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	ATPase binding	GO:0051117	9.16	TCIRG1 ATP6V0A1
2	proton transmembrane transporter activity	GO:0015078	9.13	TCIRG1 MT-ATP6 ATP6V0A1
3	proton-transporting ATPase activity, rotational mechanism	GO:0046961	8.8	TCIRG1 ATP6V1E2 ATP6V0A1

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Sources for Mental Retardation, X-Linked, Syndromic, Hedera Type

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

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⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

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¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

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³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

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 NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Mental Retardation, X-Linked, Syndromic, Hedera Type (MRXSH)

Aliases & Classifications for Mental Retardation, X-Linked, Syndromic, Hedera Type

MalaCards integrated aliases for Mental Retardation, X-Linked, Syndromic, Hedera Type:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Mental Retardation, X-Linked, Syndromic, Hedera Type

Related Diseases for Mental Retardation, X-Linked, Syndromic, Hedera Type

Diseases related to Mental Retardation, X-Linked, Syndromic, Hedera Type via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Mental Retardation, X-Linked, Syndromic, Hedera Type:

Symptoms & Phenotypes for Mental Retardation, X-Linked, Syndromic, Hedera Type

Human phenotypes related to Mental Retardation, X-Linked, Syndromic, Hedera Type:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

UMLS symptoms related to Mental Retardation, X-Linked, Syndromic, Hedera Type:

Drugs & Therapeutics for Mental Retardation, X-Linked, Syndromic, Hedera Type

Genetic Tests for Mental Retardation, X-Linked, Syndromic, Hedera Type

Genetic tests related to Mental Retardation, X-Linked, Syndromic, Hedera Type:

Anatomical Context for Mental Retardation, X-Linked, Syndromic, Hedera Type

MalaCards organs/tissues related to Mental Retardation, X-Linked, Syndromic, Hedera Type:

Publications for Mental Retardation, X-Linked, Syndromic, Hedera Type

Articles related to Mental Retardation, X-Linked, Syndromic, Hedera Type:

Genes for Mental Retardation, X-Linked, Syndromic, Hedera Type

Genes related to Mental Retardation, X-Linked, Syndromic, Hedera Type (1 elite genes):

Variations for Mental Retardation, X-Linked, Syndromic, Hedera Type

ClinVar genetic disease variations for Mental Retardation, X-Linked, Syndromic, Hedera Type:

Expression for Mental Retardation, X-Linked, Syndromic, Hedera Type

Pathways for Mental Retardation, X-Linked, Syndromic, Hedera Type

Pathways related to Mental Retardation, X-Linked, Syndromic, Hedera Type according to GeneCards Suite gene sharing:

GO Terms for Mental Retardation, X-Linked, Syndromic, Hedera Type

Cellular components related to Mental Retardation, X-Linked, Syndromic, Hedera Type according to GeneCards Suite gene sharing:

Biological processes related to Mental Retardation, X-Linked, Syndromic, Hedera Type according to GeneCards Suite gene sharing:

Molecular functions related to Mental Retardation, X-Linked, Syndromic, Hedera Type according to GeneCards Suite gene sharing:

Sources for Mental Retardation, X-Linked, Syndromic, Hedera Type