ORPHA:88616

Autosomal recessive non-syndromic intellectual disability

Synonyms: AR-NSID · NS-ARID

Type: Etiological subtype
Group: Subtype of disorder
Inheritance: Autosomal recessive
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 recessive non-syndromic intellectual disability	AR-NSID · NS-ARID
fr	Déficience intellectuelle non syndromique autosomique récessive	= en
de	Intelligenzminderung, nicht-syndromale, autosomal-rezessive	= en
es	Discapacidad intelectual no sindrómica autosómica recesiva
it	Deficit cognitivo non sindromico autosomico recessivo	= en
nl	Autosomaal recessieve niet-syndromale intellectuele achterstand	= en
pt	Perturbação do desenvolvimento intelectual não-sindromática autossómica recessiva
pl	Autosomalna recesywna niesyndromiczna niepełnosprawność intelektualna	= en
cs	Autozomálně recesivní nesyndromová mentální retardace	= en
uk	Аутосомно-рецесивна несиндромальна розумова відсталість	= en
zh	非综合征型常染色体隐性遗传性智力障碍	= en
tr	Otozomal resesif sendromik olmayan zihinsel yetersizlik	= en

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	249500	BTNT		validated
OMIM	607417	BTNT		validated
OMIM	608443	BTNT		validated
OMIM	611091	BTNT		validated
OMIM	611092	BTNT		validated
OMIM	611093	BTNT		validated
OMIM	611095	BTNT		validated
OMIM	611096	BTNT		validated
OMIM	611097	BTNT		validated
OMIM	611107	BTNT		validated
OMIM	613192	BTNT		validated
OMIM	614020	BTNT		validated
OMIM	614208	BTNT		validated
OMIM	614249	BTNT		validated
OMIM	614329	BTNT		validated
OMIM	614333	BTNT		validated
OMIM	614340	BTNT		validated
OMIM	614341	BTNT		validated
OMIM	614342	BTNT		validated
OMIM	614343	BTNT		validated
OMIM	614344	BTNT		validated
OMIM	614345	BTNT		validated
OMIM	614346	BTNT		validated
OMIM	614347	BTNT		validated
OMIM	614499	BTNT		validated
OMIM	615802	BTNT		validated
OMIM	615817	BTNT		validated
OMIM	615942	BTNT		validated
OMIM	615979	BTNT		validated
OMIM	616116	BTNT		validated
OMIM	616193	BTNT		validated
OMIM	616460	BTNT		validated
OMIM	616739	BTNT		validated
OMIM	616887	BTNT		validated
OMIM	617028	BTNT		validated
OMIM	617125	BTNT		validated
OMIM	617188	BTNT		validated
OMIM	617323	BTNT		validated
OMIM	617532	BTNT		validated
OMIM	617709	BTNT		validated
OMIM	617816	BTNT		validated
OMIM	617820	BTNT		validated
OMIM	617863	BTNT		validated
OMIM	618109	BTNT		validated
OMIM	618221	BTNT		validated
OMIM	618402	BTNT		validated
OMIM	618504	BTNT		validated
OMIM	618687	BTNT		validated
OMIM	618808	BTNT		validated
OMIM	619333	BTNT		validated
OMIM	619373	BTNT		validated
OMIM	619639	BTNT		validated
OMIM	619717	BTNT		validated
OMIM	619931	BTNT		validated
OMIM	619988	BTNT		validated
OMIM	620023	BTNT		validated
OMIM	620393	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	0019502	E		validated
UMLS	C5680181	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

54 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
AIMP1	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:10648	ENSG00000164022	603605	4q24	aminoacyl tRNA synthetase complex interacting multifunctional protein 1	26173967[PMID]
ALKBH8	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:25189	ENSG00000137760	613306	11q22.3	alkB homolog 8, tRNA methyltransferase	31079898[PMID]
CLIP1	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:10461	ENSG00000130779	179838	12q24.31	CAP-Gly domain containing linker protein 1	24569606[PMID]
EZR	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:12691	ENSG00000092820	123900	6q25.3	ezrin	25504542[PMID]
FBXO31	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:16510	ENSG00000103264	609102	16q24.2	F-box protein 31	24623383[PMID]
GEMIN5	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:20043	ENSG00000082516	607005	5q33.2	gem nuclear organelle associated protein 5	33963192[PMID]
GRIK2	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:4580	ENSG00000164418	138244	6q16.3	glutamate ionotropic receptor kainate type subunit 2	17847003[PMID]
IMPA1	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:6050	ENSG00000133731	602064	8q21.13	inositol monophosphatase 1	26416544[PMID]
MBOAT7	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:15505	ENSG00000125505	606048	19q13.42	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	27616480[PMID]
NAA20	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:15908	ENSG00000173418	610833	20p11.23	N-alpha-acetyltransferase 20, NatB catalytic subunit	34230638[PMID]
PGAP1	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:25712	ENSG00000197121	611655	2q33.1	post-GPI attachment to proteins inositol deacylase 1	24784135[PMID]
TNIK	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:30765	ENSG00000154310	610005	3q26.2-q26.31	TRAF2 and NCK interacting kinase	27106596[PMID]
TRAPPC9	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:30832	ENSG00000167632	611966	8q24.3	trafficking protein particle complex subunit 9	20004765[PMID]_20004763[PMID]_20004765[PMID]
TTC5	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:19274	ENSG00000136319	619014	14q11.2	tetratricopeptide repeat domain 5	32439809[PMID]
UBE4A	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:12499	ENSG00000110344	603753	11q23.3	ubiquitination factor E4A	33420346[PMID]
ABCA2	Disease-causing germline mutation(s) in	Assessed	HGNC:32	ENSG00000107331	600047	9q34.3	ATP binding cassette subfamily A member 2	29302074[PMID]
B3GALNT2	Disease-causing germline mutation(s) in	Assessed	HGNC:28596	ENSG00000162885	610194	1q42.3	beta-1,3-N-acetylgalactosaminyltransferase 2	29273094[PMID]
CC2D1A	Disease-causing germline mutation(s) in	Assessed	HGNC:30237	ENSG00000132024	610055	19p13.12	coiled-coil and C2 domain containing 1A	16033914[PMID]
CEP104	Disease-causing germline mutation(s) in	Assessed	HGNC:24866	ENSG00000116198	616690	1p36.32	centrosomal protein 104	35359234[PMID]
CHKA	Disease-causing germline mutation(s) in	Assessed	HGNC:1937	ENSG00000110721	118491	11q13.2	choline kinase alpha	35202461[PMID]
CRADD	Disease-causing germline mutation(s) in	Assessed	HGNC:2340	ENSG00000169372	603454	12q22	CARD and death domain containing adaptor protein	22279524[PMID]
CRBN	Disease-causing germline mutation(s) in	Assessed	HGNC:30185	ENSG00000113851	609262	3p26.2	cereblon	15557513[PMID]
DCPS	Disease-causing germline mutation(s) in	Assessed	HGNC:29812	ENSG00000110063	610534	11q24.2	decapping enzyme, scavenger	25701870[PMID]
EDC3	Disease-causing germline mutation(s) in	Assessed	HGNC:26114	ENSG00000179151	609842	15q24.1	enhancer of mRNA decapping 3	25701870[PMID]
EEF1B2	Disease-causing germline mutation(s) in	Assessed	HGNC:3208	ENSG00000114942	600655	2q33.3	eukaryotic translation elongation factor 1 beta 2	35015920[PMID]
FERRY3	Disease-causing germline mutation(s) in	Assessed	HGNC:1184	ENSG00000047621	616082	12p13.32	FERRY endosomal RAB5 effector complex subunit 3	27311568[PMID]
FMN2	Disease-causing germline mutation(s) in	Assessed	HGNC:14074	ENSG00000155816	606373	1q43	formin 2	25480035[PMID]
FRRS1L	Disease-causing germline mutation(s) in	Assessed	HGNC:1362	ENSG00000260230	604574	9q31.3	ferric chelate reductase 1 like	28675162[PMID]
GRIA1	Disease-causing germline mutation(s) in	Assessed	HGNC:4571	ENSG00000155511	138248	5q33.2	glutamate ionotropic receptor AMPA type subunit 1	35675825[PMID]
GRIN1	Disease-causing germline mutation(s) in	Assessed	HGNC:4584	ENSG00000176884	138249	9q34.3	glutamate ionotropic receptor NMDA type subunit 1	28051072[PMID]
GRM7	Disease-causing germline mutation(s) in	Assessed	HGNC:4599	ENSG00000196277	604101	3p26.1	glutamate metabotropic receptor 7	27435318[PMID]
HNMT	Disease-causing germline mutation(s) in	Assessed	HGNC:5028	ENSG00000150540	605238	2q22.1	histamine N-methyltransferase	26206890[PMID]
IQSEC1	Disease-causing germline mutation(s) in	Assessed	HGNC:29112	ENSG00000144711	610166	3p25.2	IQ motif and Sec7 domain ArfGEF 1	31607425[PMID]
KDM5B	Disease-causing germline mutation(s) in	Assessed	HGNC:18039	ENSG00000117139	605393	1q32.1	lysine demethylase 5B	29276005[PMID]
LINS1	Disease-causing germline mutation(s) in	Assessed	HGNC:30922	ENSG00000140471	610350	15q26.3	lines homolog 1	23773660[PMID]
LMAN2L	Disease-causing germline mutation(s) in	Assessed	HGNC:19263	ENSG00000114988	609552	2q11.2	lectin, mannose binding 2 like	26566883[PMID]
MAN1B1	Disease-causing germline mutation(s) in	Assessed	HGNC:6823	ENSG00000177239	604346	9q34.3	mannosidase alpha class 1B member 1	21763484[PMID]
MED23	Disease-causing germline mutation(s) in	Assessed	HGNC:2372	ENSG00000112282	605042	6q23.2	mediator complex subunit 23	21868677[PMID]
MED25	Disease-causing germline mutation(s) in	Assessed	HGNC:28845	ENSG00000104973	610197	19q13.33	mediator complex subunit 25	25527630[PMID]
METTL23	Disease-causing germline mutation(s) in	Assessed	HGNC:26988	ENSG00000181038	615262	17q25.2	methyltransferase 23, arginine	24626631[PMID]
NCDN	Disease-causing germline mutation(s) in	Assessed	HGNC:17597	ENSG00000020129	608458	1p34.3	neurochondrin	33711248[PMID]
NDST1	Disease-causing germline mutation(s) in	Assessed	HGNC:7680	ENSG00000070614	600853	5q33.1	N-deacetylase and N-sulfotransferase 1	25125150[PMID]
NEMF	Disease-causing germline mutation(s) in	Assessed	HGNC:10663	ENSG00000165525	608378	14q21.3	nuclear export mediator factor	32934225[PMID]
NSUN2	Disease-causing germline mutation(s) in	Assessed	HGNC:25994	ENSG00000037474	610916	5p15.31	NOP2/Sun RNA methyltransferase 2	22541559[PMID]_22541562[PMID]
PIGC	Disease-causing germline mutation(s) in	Assessed	HGNC:8960	ENSG00000135845	601730	1q24.3	phosphatidylinositol glycan anchor biosynthesis class C	27694521[PMID]
PRSS12	Disease-causing germline mutation(s) in	Assessed	HGNC:9477	ENSG00000164099	606709	4q26	serine protease 12	12459588[PMID]
RSRC1	Disease-causing germline mutation(s) in	Assessed	HGNC:24152	ENSG00000174891	613352	3q25.32	arginine and serine rich coiled-coil 1	28640246[PMID]_29522154[PMID]
SARS1	Disease-causing germline mutation(s) in	Assessed	HGNC:10537	ENSG00000031698	607529	1p13.3	seryl-tRNA synthetase 1	28236339[PMID]
SLC45A1	Disease-causing germline mutation(s) in	Assessed	HGNC:17939	ENSG00000162426	605763	1p36.23	solute carrier family 45 member 1	28434495[PMID]
TECR	Disease-causing germline mutation(s) in	Assessed	HGNC:4551	ENSG00000099797	610057	19p13.12	trans-2,3-enoyl-CoA reductase	21212097[PMID]
TPR	Disease-causing germline mutation(s) in	Assessed	HGNC:12017	ENSG00000047410	189940	1q31.1	translocated promoter region, nuclear basket protein	34494102[PMID]
TUSC3	Disease-causing germline mutation(s) in	Assessed	HGNC:30242	ENSG00000104723	601385	8p22	tumor suppressor candidate 3	21739581[PMID]
WASHC4	Disease-causing germline mutation(s) in	Assessed	HGNC:29174	ENSG00000136051	615748	12q23.3	WASH complex subunit 4	21498477[PMID]
ZC3H14	Disease-causing germline mutation(s) in	Assessed	HGNC:20509	ENSG00000100722	613279	14q31.3	zinc finger CCCH-type containing 14	21734151[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/88616
This record as JSON: /data/d/88616.json