ORPHA:178469

Autosomal dominant non-syndromic intellectual disability

Type: Etiological subtype
Group: Subtype of disorder
Inheritance: Autosomal dominant
Age of onset: Childhood, Infancy
Status: active

This disease is described under Rare non-syndromic intellectual disability

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Autosomal dominant non-syndromic intellectual disability
fr	Déficience intellectuelle non syndromique autosomique dominante
de	Intelligenzminderung, nicht-syndromale, autosomal-dominante
es	Discapacidad intelectual no sindrómica autosómica dominante
it	Disabilità intellettiva non sindromica autosomica dominante
nl	Autosomaal dominante niet-syndromale intellectuele achterstand
pt	Perturbação do desenvolvimento intelectual não-sindromática autossómica dominante
pl	Autosomalna dominująca niesyndromiczna niepełnosprawność intelektualna
cs	Autozomálně dominantní nesyndromická mentální retardace
uk	Аутосомно-домінантна несиндромальна інтелектуальна недостатність
zh	常染色体显性遗传非综合征性智力障碍
tr	Otozomal dominant, non-sendromik zihinsel yetersizlik

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	156200	BTNT		validated
OMIM	612082	BTNT		validated
OMIM	612580	BTNT		validated
OMIM	612581	BTNT		validated
OMIM	614113	BTNT		validated
OMIM	614254	BTNT		validated
OMIM	614256	BTNT		validated
OMIM	614257	BTNT		validated
OMIM	614563	BTNT		not yet validated
OMIM	616579	BTNT		validated
OMIM	616977	BTNT		validated
OMIM	617600	BTNT		validated
OMIM	617601	BTNT		validated
OMIM	617796	BTNT		validated
OMIM	617798	BTNT		validated
OMIM	617799	BTNT		validated
OMIM	617854	BTNT		validated
OMIM	618095	BTNT		validated
OMIM	618106	BTNT		validated
OMIM	618330	BTNT		validated
OMIM	618709	BTNT		validated
OMIM	619188	BTNT		validated
OMIM	619575	BTNT		validated
OMIM	619927	BTNT		validated
OMIM	620114	BTNT		validated
OMIM	620224	BTNT		validated
OMIM	620502	BTNT		validated
ICD-10	F70	BTNT	attributed	validated
ICD-10	F71	BTNT	attributed	validated
ICD-10	F72	BTNT	attributed	validated
ICD-10	F73	BTNT	attributed	validated
ICD-11	LD90.Y	NTBT	attributed	validated
MONDO	0015802	E		validated
UMLS	C5680502	E		validated
GARD	12107	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:98006Rare neurologic disease

Parents in the classifications (1):

ORPHA:101685Rare non-syndromic intellectual disability
rare genetic diseases; rare neurological diseases

No children.

Genes

42 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
KDM5B	Candidate gene tested in	Not yet assessed	HGNC:18039	ENSG00000117139	605393	1q32.1	lysine demethylase 5B	24307393[PMID]
BRSK2	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:11405	ENSG00000174672	609236	11p15.5	BR serine/threonine kinase 2	30879638[PMID]
CIC	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:14214	ENSG00000079432	612082	19q13.2	capicua transcriptional repressor	28288114[PMID]
CSNK2B	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:2460	ENSG00000204435	115441	6p21.33	casein kinase 2 beta	28585349[PMID]
HIVEP2	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:4921	ENSG00000010818	143054	6q24.2	HIVEP zinc finger 2	26153216[PMID]_27003583[PMID]
TAOK1	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:29259	ENSG00000160551	610266	17q11.2	TAO kinase 1	31230721[PMID]
ARF3	Disease-causing germline mutation(s) in	Assessed	HGNC:654	ENSG00000134287	103190	12q13.12	ARF GTPase 3	34346499[PMID]
ASH1L	Disease-causing germline mutation(s) in	Assessed	HGNC:19088	ENSG00000116539	607999	1q22	ASH1 like histone lysine methyltransferase	23033978[PMID]_28394464[PMID]
CACNA1I	Disease-causing germline mutation(s) in	Assessed	HGNC:1396	ENSG00000100346	608230	22q13.1	calcium voltage-gated channel subunit alpha1 I	33704440[PMID]
CACNG2	Disease-causing germline mutation(s) in	Assessed	HGNC:1406	ENSG00000166862	602911	22q12.3	calcium voltage-gated channel auxiliary subunit gamma 2	21376300[PMID]
CAMK2A	Disease-causing germline mutation(s) in	Assessed	HGNC:1460	ENSG00000070808	114078	5q32	calcium/calmodulin dependent protein kinase II alpha	29100089[PMID]
CAMK2B	Disease-causing germline mutation(s) in	Assessed	HGNC:1461	ENSG00000058404	607707	7p13	calcium/calmodulin dependent protein kinase II beta	29100089[PMID]
CDH15	Disease-causing germline mutation(s) in	Assessed	HGNC:1754	ENSG00000129910	114019	16q24.3	cadherin 15	19012874[PMID]
CLTC	Disease-causing germline mutation(s) in	Assessed	HGNC:2092	ENSG00000141367	118955	17q23.1	clathrin heavy chain	29100083[PMID]
CTNND2	Disease-causing germline mutation(s) in	Assessed	HGNC:2516	ENSG00000169862	604275	5p15.2	catenin delta 2	33718894[PMID]
CUX1	Disease-causing germline mutation(s) in	Assessed	HGNC:2557	ENSG00000257923	116896	7q22.1	cut like homeobox 1	30014507[PMID]
DLL1	Disease-causing germline mutation(s) in	Assessed	HGNC:2908	ENSG00000198719	606582	6q27	delta like canonical Notch ligand 1	31353024[PMID]
DOCK8	Disease-causing germline mutation(s) in	Assessed	HGNC:19191	ENSG00000107099	611432	9p24.3	dedicator of cytokinesis 8	18060736[PMID]
DPYSL2	Disease-causing germline mutation(s) in	Assessed	HGNC:3014	ENSG00000092964	602463	8p21.2	dihydropyrimidinase like 2	35861646[PMID]
DYNC1H1	Disease-causing germline mutation(s) in	Assessed	HGNC:2961	ENSG00000197102	600112	14q32.31	dynein cytoplasmic 1 heavy chain 1	22368300[PMID]
EPB41L1	Disease-causing germline mutation(s) in	Assessed	HGNC:3378	ENSG00000088367	602879	20q11.23	erythrocyte membrane protein band 4.1 like 1	21376300[PMID]
ERBB4	Disease-causing germline mutation(s) in	Assessed	HGNC:3432	ENSG00000178568	600543	2q34	erb-b2 receptor tyrosine kinase 4	33603162[PMID]
GABBR1	Disease-causing germline mutation(s) in	Assessed	HGNC:4070	ENSG00000204681	603540	6p22.1	gamma-aminobutyric acid type B receptor subunit 1	36103875[PMID]
GRIA1	Disease-causing germline mutation(s) in	Assessed	HGNC:4571	ENSG00000155511	138248	5q33.2	glutamate ionotropic receptor AMPA type subunit 1	28628100[PMID]
GRIN1	Disease-causing germline mutation(s) in	Assessed	HGNC:4584	ENSG00000176884	138249	9q34.3	glutamate ionotropic receptor NMDA type subunit 1	21376300[PMID]
ITSN1	Disease-causing germline mutation(s) in	Assessed	HGNC:6183	ENSG00000205726	602442	21q22.11	intersectin 1	34707297[PMID]
KCNQ2	Disease-causing germline mutation(s) in	Assessed	HGNC:6296	ENSG00000075043	602235	20q13.33	potassium voltage-gated channel subfamily Q member 2	33754465[PMID]
KCNQ5	Disease-causing germline mutation(s) in	Assessed	HGNC:6299	ENSG00000185760	607357	6q13	potassium voltage-gated channel subfamily Q member 5	28669405[PMID]
KIRREL3	Disease-causing germline mutation(s) in	Assessed	HGNC:23204	ENSG00000149571	607761	11q24.2	kirre like nephrin family adhesion molecule 3	19012874[PMID]
MBD5	Disease-causing germline mutation(s) in	Assessed	HGNC:20444	ENSG00000204406	611472	2q23.1	methyl-CpG binding domain protein 5	23422940[PMID]
NBEA	Disease-causing germline mutation(s) in	Assessed	HGNC:7648	ENSG00000172915	604889	13q13.3	neurobeachin	30269351[PMID]
PRICKLE2	Disease-causing germline mutation(s) in	Assessed	HGNC:20340	ENSG00000163637	608501	3p14.1	prickle planar cell polarity protein 2	34092786[PMID]
RAB11A	Disease-causing germline mutation(s) in	Assessed	HGNC:9760	ENSG00000103769	605570	15q22.31	RAB11A, member RAS oncogene family	29100083[PMID]
SCN2A	Disease-causing germline mutation(s) in	Assessed	HGNC:10588	ENSG00000136531	182390	2q24.3	sodium voltage-gated channel alpha subunit 2	31904126[PMID]_38651838[PMID]
SCN8A	Disease-causing germline mutation(s) in	Assessed	HGNC:10596	ENSG00000196876	600702	12q13.13	sodium voltage-gated channel alpha subunit 8	16236810[PMID]
SEMA6B	Disease-causing germline mutation(s) in	Assessed	HGNC:10739	ENSG00000167680	608873	19p13.3	semaphorin 6B	35604360[PMID]
SET	Disease-causing germline mutation(s) in	Assessed	HGNC:10760	ENSG00000119335	600960	9q34.11	SET nuclear proto-oncogene	29688601[PMID]
SETD1B	Disease-causing germline mutation(s) in	Assessed	HGNC:29187	ENSG00000139718	611055	12q24.31	SET domain containing 1B, histone lysine methyltransferase	32546566[PMID]
SLC6A1	Disease-causing germline mutation(s) in	Assessed	HGNC:11042	ENSG00000157103	137165	3p25.3	solute carrier family 6 member 1	34006619[PMID]
TCF4	Disease-causing germline mutation(s) in	Assessed	HGNC:11634	ENSG00000196628	602272	18q21.2	transcription factor 4	22670824[PMID]
TRPM3	Disease-causing germline mutation(s) in	Assessed	HGNC:17992	ENSG00000083067	608961	9q21.12-q21.13	transient receptor potential cation channel subfamily M member 3	31278393[PMID]
YWHAZ	Disease-causing germline mutation(s) in	Assessed	HGNC:12855	ENSG00000164924	601288	8q22.3	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta	36001342[PMID]

Prevalence and incidence

0 records

No prevalence record in this release.

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

Sources for this card

Orphanet page: orpha.net/en/disease/detail/178469
This record as JSON: /data/d/178469.json