ORPHA:777

X-linked non-syndromic intellectual disability

Type: Etiological subtype
Group: Subtype of disorder
Inheritance: X-linked recessive
Age of onset: Childhood, Infancy
Status: active

Orphadata ships no English definition for this code.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	X-linked non-syndromic intellectual disability
fr	Déficience intellectuelle non syndromique liée à l'X
de	Intelligenzminderung, nicht-syndromale, X-chromosomale
es	Discapacidad intelectual no sindrómica ligada al cromosoma X
it	Disabilità intellettiva non sindromica legata all'X
nl	X-gebonden niet-syndromale intellectuele achterstand
pt	Perturbação do desenvolvimento intelectual não-sindromático ligada ao X
pl	Niepełnosprawność intelektualna sprzężona z chromosomem X niesyndromiczna
cs	X-vázaná nesyndromická mentální retardace	X-vázaná nespecifická mentální retardace
uk	Х-зчеплена несиндромальна розумова відсталість
zh	X连锁非综合征性智力障碍
tr	X'e bağlı sendromik olmayan zihinsel yetersizlik

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	300046	BTNT		validated
OMIM	300047	BTNT		validated
OMIM	300062	BTNT		validated
OMIM	300115	BTNT		validated
OMIM	300143	BTNT		validated
OMIM	300210	BTNT		validated
OMIM	300271	BTNT		validated
OMIM	300324	BTNT		validated
OMIM	300355	BTNT		validated
OMIM	300372	BTNT		validated
OMIM	300387	BTNT		validated
OMIM	300419	BTNT		validated
OMIM	300428	BTNT		validated
OMIM	300433	BTNT		validated
OMIM	300436	BTNT		validated
OMIM	300454	BTNT		validated
OMIM	300498	BTNT		validated
OMIM	300505	BTNT		validated
OMIM	300518	BTNT		validated
OMIM	300676	BTNT		validated
OMIM	300705	BTNT		validated
OMIM	300716	BTNT		validated
OMIM	300802	BTNT		validated
OMIM	300803	BTNT		validated
OMIM	300844	BTNT		validated
OMIM	300848	BTNT		validated
OMIM	300849	BTNT		validated
OMIM	300850	BTNT		validated
OMIM	300851	BTNT		validated
OMIM	300852	BTNT		validated
OMIM	300919	BTNT		validated
OMIM	300928	BTNT		validated
OMIM	300983	BTNT		validated
OMIM	300984	BTNT		validated
OMIM	301008	BTNT		validated
OMIM	301013	BTNT		validated
OMIM	301024	BTNT		validated
OMIM	309549	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	index	validated
MONDO	0019181	E		validated
UMLS	C3501611	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.

Codes that Orphanet moved or referred to this one:

ORPHA:775OBSOLETE: X-linked intellectual disability, Martinez type referred to · inactive
ORPHA:3061OBSOLETE: X-linked intellectual disability, Raynaud type referred to · inactive
ORPHA:3062OBSOLETE: X-linked intellectual disability, Schutz type referred to · inactive

Genes

30 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
MED12	Candidate gene tested in	Not yet assessed	HGNC:11957	ENSG00000184634	300188	Xq13.1	mediator complex subunit 12
PTCHD1	Candidate gene tested in	Not yet assessed	HGNC:26392	ENSG00000165186	300828	Xp22.11	patched domain containing 1	20844286[PMID]_21091464[PMID]
FTSJ1	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:13254	ENSG00000068438	300499	Xp11.23	FtsJ RNA 2'-O-methyltransferase 1	18081026[PMID]
RAB39B	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:16499	ENSG00000155961	300774	Xq28	RAB39B, member RAS oncogene family	20159109[PMID]
USP9X	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:12632	ENSG00000124486	300072	Xp11.4	ubiquitin specific peptidase 9 X-linked	24607389[PMID]
ACSL4	Disease-causing germline mutation(s) in	Assessed	HGNC:3571	ENSG00000068366	300157	Xq23	acyl-CoA synthetase long chain family member 4	11889465[PMID]
AGTR2	Disease-causing germline mutation(s) in	Assessed	HGNC:338	ENSG00000180772	300034	Xq23	angiotensin II receptor type 2	14598163[PMID]
ALG13	Disease-causing germline mutation(s) in	Assessed	HGNC:30881	ENSG00000101901	300776	Xq23	ALG13 UDP-N-acetylglucosaminyltransferase subunit	24501762[PMID]
ARHGEF6	Disease-causing germline mutation(s) in	Assessed	HGNC:685	ENSG00000129675	300267	Xq26.3	Rac/Cdc42 guanine nucleotide exchange factor 6	11017088[PMID]
ARX	Disease-causing germline mutation(s) in	Assessed	HGNC:18060	ENSG00000004848	300382	Xp21.3	aristaless related homeobox	15850492[PMID]
CASK	Disease-causing germline mutation(s) in	Assessed	HGNC:1497	ENSG00000147044	300172	Xp11.4	calcium/calmodulin dependent serine protein kinase	25886057[PMID]_24278995[PMID]
CLCN4	Disease-causing germline mutation(s) in	Assessed	HGNC:2022	ENSG00000073464	302910	Xp22.2	Cl-/H+ antiporter 4	25644381[PMID]
CNKSR2	Disease-causing germline mutation(s) in	Assessed	HGNC:19701	ENSG00000149970	300724	Xp22.12	connector enhancer of kinase suppressor of Ras 2	25644381[PMID]
DLG3	Disease-causing germline mutation(s) in	Assessed	HGNC:2902	ENSG00000082458	300189	Xq13.1	discs large MAGUK scaffold protein 3	15185169[PMID]
DMD	Disease-causing germline mutation(s) in	Assessed	HGNC:2928	ENSG00000198947	300377	Xp21.2-p21.1	dystrophin	23900271[PMID]
FRMPD4	Disease-causing germline mutation(s) in	Assessed	HGNC:29007	ENSG00000169933	300838	Xp22.2	FERM and PDZ domain containing 4	25644381[PMID]
GDI1	Disease-causing germline mutation(s) in	Assessed	HGNC:4226	ENSG00000203879	300104	Xq28	GDP dissociation inhibitor 1	22002931[PMID]
HCFC1	Disease-causing germline mutation(s) in	Assessed	HGNC:4839	ENSG00000172534	300019	Xq28	host cell factor C1	23000143[PMID]
IL1RAPL1	Disease-causing germline mutation(s) in	Assessed	HGNC:5996	ENSG00000169306	300206	Xp21.3-p21.2	interleukin 1 receptor accessory protein like 1	16470793[PMID]_19012350[PMID]
MECP2	Disease-causing germline mutation(s) in	Assessed	HGNC:6990	ENSG00000169057	300005	Xq28	methyl-CpG binding protein 2	11309367[PMID]
MID2	Disease-causing germline mutation(s) in	Assessed	HGNC:7096	ENSG00000080561	300204	Xq22.3	midline 2	24115387[PMID]
RPS6KA3	Disease-causing germline mutation(s) in	Assessed	HGNC:10432	ENSG00000177189	300075	Xp22.12	ribosomal protein S6 kinase A3	17100996[PMID]
SLC9A7	Disease-causing germline mutation(s) in	Assessed	HGNC:17123	ENSG00000065923	300368	Xp11.3	solute carrier family 9 member A7	30335141[PMID]
STEEP1	Disease-causing germline mutation(s) in	Assessed	HGNC:26239	ENSG00000018610	301012	Xq24	STING1 ER exit protein 1	29374277[PMID]
SYP	Disease-causing germline mutation(s) in	Assessed	HGNC:11506	ENSG00000102003	313475	Xp11.23	synaptophysin	19377476[PMID]
TSPAN7	Disease-causing germline mutation(s) in	Assessed	HGNC:11854	ENSG00000156298	300096	Xp11.4	tetraspanin 7	10655063[PMID]_12070254[PMID]
UPF3B	Disease-causing germline mutation(s) in	Assessed	HGNC:20439	ENSG00000125351	300298	Xq24	UPF3B regulator of nonsense mediated mRNA decay	17704778[PMID]_19238151[PMID]
USP27X	Disease-causing germline mutation(s) in	Assessed	HGNC:13486	ENSG00000273820	300975	Xp11.23	ubiquitin specific peptidase 27 X-linked	25644381[PMID]
ZNF711	Disease-causing germline mutation(s) in	Assessed	HGNC:13128	ENSG00000147180	314990	Xq21.1	ZFX family zinc finger ZNF711	19377476[PMID]
ZNF81	Disease-causing germline mutation(s) in	Assessed	HGNC:13156	ENSG00000197779	314998	Xp11.23	zinc finger protein 81	15121780[PMID]

Prevalence and incidence

1 record

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	Unknown	—	Worldwide	Class only	Not yet validated	ORPHANET

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

HPO phenotypes

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

Sources for this card

Orphanet page: orpha.net/en/disease/detail/777
This record as JSON: /data/d/777.json