Rafiq Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

RAFQS MCID: RFQ001 MIFTS: 27	Rafiq Syndrome (RAFQS) Categories: Genetic diseases, Mental diseases, Neuronal diseases
Genes Variations Tissues Publications Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Rafiq Syndrome

MalaCards integrated aliases for Rafiq Syndrome:

Name: Rafiq Syndrome ⁵⁷

Mental Retardation, Autosomal Recessive 15 ⁵⁷ ⁷² ²⁹ ¹³ ⁶ ⁷⁰

Mrt15 ⁵⁷ ⁷²

Mental Retardation Non-Syndromic Autosomal Recessive 15 ⁷²

Mental Retardation, Autosomal Recessive 15; Mrt15 ⁵⁷

Mental Retardation, Autosomal Recessive, Type 15 ³⁹

Rafqs ⁵⁷

Cdg2u ⁵⁷

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Inheritance:
autosomal recessive

Miscellaneous:
dysmorphic features are variable

HPO:

³¹

rafiq syndrome:
Inheritance autosomal recessive inheritance

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 614202

OMIM Phenotypic Series ⁵⁷ PS249500

MeSH ⁴⁴ D008607

MedGen ⁴¹ C3280127

UMLS ⁷⁰ C3280127

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Summaries for Rafiq Syndrome

OMIM® : ⁵⁷ Rafiq syndrome (RAFQS) is an autosomal recessive disorder characterized by variably impaired intellectual and motor development, a characteristic facial dysmorphism, truncal obesity, and hypotonia. The facial dysmorphism comprises prominent eyebrows with lateral thinning, downward-slanting palpebral fissures, bulbous tip of the nose, large ears, and a thin upper lip. Behavioral problems, including overeating, verbal and physical aggression, have been reported in some cases. Serum transferrin isoelectric focusing shows a type 2 pattern (summary by Balasubramanian et al., 2019). (614202) (Updated 05-Apr-2021)

MalaCards based summary : Rafiq Syndrome, is also known as mental retardation, autosomal recessive 15. An important gene associated with Rafiq Syndrome is MAN1B1 (Mannosidase Alpha Class 1B Member 1). Affiliated tissues include liver, and related phenotypes are obesity and global developmental delay

UniProtKB/Swiss-Prot : ⁷² Mental retardation, autosomal recessive 15: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.

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Related Diseases for Rafiq Syndrome

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Symptoms & Phenotypes for Rafiq Syndrome

Human phenotypes related to Rafiq Syndrome:

³¹ (show all 18)

#	Description	HPO Frequency	HPO Source Accession
1	obesity ³¹	occasional (7.5%)	HP:0001513
2	global developmental delay ³¹		HP:0001263
3	hypertelorism ³¹		HP:0000316
4	wide nasal bridge ³¹		HP:0000431
5	smooth philtrum ³¹		HP:0000319
6	dolichocephaly ³¹		HP:0000268
7	downslanted palpebral fissures ³¹		HP:0000494
8	thin upper lip vermilion ³¹		HP:0000219
9	long face ³¹		HP:0000276
10	intellectual disability, moderate ³¹		HP:0002342
11	malar flattening ³¹		HP:0000272
12	short philtrum ³¹		HP:0000322
13	pointed chin ³¹		HP:0000307
14	prominent nose ³¹		HP:0000448
15	aggressive behavior ³¹		HP:0000718
16	broad eyebrow ³¹		HP:0011229
17	long eyebrows ³¹		HP:0004523
18	seizure ³¹		HP:0001250

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Head And Neck Eyes:
hypertelorism
long eyebrows
downslanting palpebral fissures
broad eyebrows

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum

Skeletal Limbs:
joint hypermobility

Head And Neck Nose:
prominent nose
broad nasal root

Skin Nails Hair Hair:
long eyebrows
broad eyebrows

Neurologic Central Nervous System:
delayed psychomotor development
mental retardation, moderate to profound
cerebellar atrophy (1 patient)
cortical dysplasia seen on mri (1 patient)
hypotonia seizures (variable)

Laboratory Abnormalities:
abnormal isoelectric focusing of serum transferrin (type 2 pattern)

Abdomen Liver:
liver dysfunction, mild

Hematology:
prolonged prothrombin time (1 patient)
antithrombin iii deficiency (2 patients)
prolonged partial thromboplastin time (1 patient)

Growth Weight:
obesity

Chest Breasts:
inverted nipples

Head And Neck Face:
long face
malar flattening
short philtrum
pointed chin
flat philtrum
more

Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior

Head And Neck Mouth:
thin upper lip

Skin Nails Hair Skin:
skin laxity

Skeletal Spine:
scoliosis (1 patient)

Head And Neck Head:
dolichocephaly, mild

Clinical features from OMIM®:

614202 (Updated 05-Apr-2021)

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Drugs & Therapeutics for Rafiq Syndrome

Search Clinical Trials , NIH Clinical Center for Rafiq Syndrome

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Genetic Tests for Rafiq Syndrome

Genetic tests related to Rafiq Syndrome:

#	Genetic test	Affiliating Genes
1	Mental Retardation, Autosomal Recessive 15 ²⁹	MAN1B1

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Anatomical Context for Rafiq Syndrome

MalaCards organs/tissues related to Rafiq Syndrome:

⁴⁰

Liver

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Publications for Rafiq Syndrome

Articles related to Rafiq Syndrome:

#	Title	Authors	PMID	Year
1	Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability. ⁶ ⁵⁷ ⁶¹	Rafiq MA...Najmabadi H	21763484	2011
2	MAN1B-CDG: Novel variants with a distinct phenotype and review of literature. ⁵⁷ ⁶	Balasubramanian M...DDD Study	29908352	2019
3	MAN1B1 Mutation Leads to a Recognizable Phenotype: A Case Report and Future Prospects. ⁶ ⁵⁷	Hoffjan S...Abou Jamra R	26279649	2015
4	Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency. ⁵⁷ ⁶	Van Scherpenzeel M...Lefeber DJ	24566669	2014
5	MAN1B1 deficiency: an unexpected CDG-II. ⁵⁷ ⁶	Rymen D...Matthijs G	24348268	2013
6	Single-center experience of N-linked Congenital Disorders of Glycosylation with a Summary of Molecularly Characterized Cases in Arabs. ⁶	Bastaki F...Hamzeh AR	28940310	2018
7	Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots. ⁵⁷	Kuss AW...Najmabadi H	21063731	2011
8	Mapping of three novel loci for non-syndromic autosomal recessive mental retardation (NS-ARMR) in consanguineous families from Pakistan. ⁵⁷	Rafiq MA...Scherer SW	20345473	2010

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Genes for Rafiq Syndrome

Genes related to Rafiq Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	MAN1B1	Mannosidase Alpha Class 1B Member 1	Protein Coding	1325	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷² Genetic Tests ²⁹ Likely pathogenic ⁶	24348268 21763484 26279649 (more) 29908352 24566669 28940310

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Variations for Rafiq Syndrome

ClinVar genetic disease variations for Rafiq Syndrome:

⁶ (show top 50) (show all 163)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	MAN1B1	NM_016219.5(MAN1B1):c.1418G>A (p.Trp473Ter)	SNV	Pathogenic	30414	rs1564311909	GRCh37: 9:140000740-140000740 GRCh38: 9:137106288-137106288
2	MAN1B1	NM_016219.5(MAN1B1):c.1274_1275CA[1] (p.Gln426fs)	Microsatellite	Pathogenic	203378	rs794729645	GRCh37: 9:140000595-140000596 GRCh38: 9:137106143-137106144
3	MAN1B1	NM_016219.5(MAN1B1):c.179dup (p.Tyr60Ter)	Duplication	Pathogenic	802546	rs1377102705	GRCh37: 9:139981629-139981630 GRCh38: 9:137087177-137087178
4	MAN1B1	NM_016219.5(MAN1B1):c.1225T>C (p.Ser409Pro)	SNV	Pathogenic	983290		GRCh37: 9:139996095-139996095 GRCh38: 9:137101643-137101643
5	MAN1B1	NM_016219.5(MAN1B1):c.621-2A>G	SNV	Pathogenic	983295		GRCh37: 9:139992278-139992278 GRCh38: 9:137097826-137097826
6	MAN1B1	NM_016219.5(MAN1B1):c.761_764del (p.Ile254fs)	Deletion	Pathogenic	983297		GRCh37: 9:139994175-139994178 GRCh38: 9:137099723-137099726
7	MAN1B1	NM_016219.5(MAN1B1):c.1311del (p.Leu438fs)	Deletion	Pathogenic	983298		GRCh37: 9:140000631-140000631 GRCh38: 9:137106179-137106179
8	MAN1B1	NM_016219.5(MAN1B1):c.1000C>T (p.Arg334Cys)	SNV	Pathogenic	30415	rs387906886	GRCh37: 9:139995540-139995540 GRCh38: 9:137101088-137101088
9	MAN1B1	NM_016219.5(MAN1B1):c.1833_1834del (p.Asp613fs)	Deletion	Pathogenic	521615	rs1382373816	GRCh37: 9:140002051-140002052 GRCh38: 9:137107599-137107600
10	MAN1B1	NM_016219.5(MAN1B1):c.172G>T (p.Glu58Ter)	SNV	Pathogenic	816942	rs753503405	GRCh37: 9:139981623-139981623 GRCh38: 9:137087171-137087171
11	MAN1B1	NM_016219.5(MAN1B1):c.1189G>A (p.Glu397Lys)	SNV	Pathogenic	30413	rs387906885	GRCh37: 9:139996059-139996059 GRCh38: 9:137101607-137101607
12	MAN1B1	NM_016219.5(MAN1B1):c.1444C>T (p.Gln482Ter)	SNV	Pathogenic	1030542		GRCh37: 9:140000766-140000766 GRCh38: 9:137106314-137106314
13	MAN1B1	NM_016219.5(MAN1B1):c.1445+2_1445+5del	Deletion	Pathogenic	983293		GRCh37: 9:140000767-140000770 GRCh38: 9:137106315-137106318
14	MAN1B1	NM_016219.5(MAN1B1):c.465+1462_620+529del	Deletion	Pathogenic	983294		GRCh37: 9:139984917-139991370 GRCh38: 9:137090465-137096918
15	MAN1B1	NM_016219.5(MAN1B1):c.530_542del (p.Leu177fs)	Deletion	Likely pathogenic	211429	rs797045688	GRCh37: 9:139990752-139990764 GRCh38: 9:137096300-137096312
16	MAN1B1	NM_016219.5(MAN1B1):c.1942C>T (p.Gln648Ter)	SNV	Likely pathogenic	495322	rs1164484724	GRCh37: 9:140002885-140002885 GRCh38: 9:137108433-137108433
17	MAN1B1	NM_016219.5(MAN1B1):c.426G>A (p.Ala142=)	SNV	Conflicting interpretations of pathogenicity	798643	rs199738190	GRCh37: 9:139983418-139983418 GRCh38: 9:137088966-137088966
18	MAN1B1	NM_016219.5(MAN1B1):c.882G>A (p.Ala294=)	SNV	Conflicting interpretations of pathogenicity	749399	rs750236367	GRCh37: 9:139994299-139994299 GRCh38: 9:137099847-137099847
19	MAN1B1	NM_016219.5(MAN1B1):c.768C>T (p.Val256=)	SNV	Conflicting interpretations of pathogenicity	365954	rs145906530	GRCh37: 9:139994185-139994185 GRCh38: 9:137099733-137099733
20	MAN1B1	NM_016219.5(MAN1B1):c.1312C>T (p.Leu438=)	SNV	Conflicting interpretations of pathogenicity	595523	rs150942110	GRCh37: 9:140000634-140000634 GRCh38: 9:137106182-137106182
21	MAN1B1	NM_016219.5(MAN1B1):c.1897G>T (p.Val633Phe)	SNV	Conflicting interpretations of pathogenicity	539744	rs777270726	GRCh37: 9:140002840-140002840 GRCh38: 9:137108388-137108388
22	MAN1B1	NM_016219.5(MAN1B1):c.635T>G (p.Val212Gly)	SNV	Conflicting interpretations of pathogenicity	211430	rs186504463	GRCh37: 9:139992294-139992294 GRCh38: 9:137097842-137097842
23	MAN1B1	NM_016219.5(MAN1B1):c.1433A>G (p.Lys478Arg)	SNV	Conflicting interpretations of pathogenicity	211420	rs138658585	GRCh37: 9:140000755-140000755 GRCh38: 9:137106303-137106303
24	MAN1B1	NM_016219.5(MAN1B1):c.1800C>T (p.Thr600=)	SNV	Conflicting interpretations of pathogenicity	211422	rs146417316	GRCh37: 9:140002018-140002018 GRCh38: 9:137107566-137107566
25	MAN1B1	NM_016219.5(MAN1B1):c.1173C>T (p.Ser391=)	SNV	Conflicting interpretations of pathogenicity	435805	rs145704211	GRCh37: 9:139996043-139996043 GRCh38: 9:137101591-137101591
26	MAN1B1	NM_016219.5(MAN1B1):c.1742G>A (p.Gly581Asp)	SNV	Conflicting interpretations of pathogenicity	435808	rs376968555	GRCh37: 9:140001877-140001877 GRCh38: 9:137107425-137107425
27	MAN1B1	NM_016219.5(MAN1B1):c.2020G>A (p.Asp674Asn)	SNV	Conflicting interpretations of pathogenicity	129571	rs181795958	GRCh37: 9:140002963-140002963 GRCh38: 9:137108511-137108511
28	MAN1B1	NM_016219.5(MAN1B1):c.1991C>T (p.Thr664Met)	SNV	Uncertain significance	435811	rs200428790	GRCh37: 9:140002934-140002934 GRCh38: 9:137108482-137108482
29	MAN1B1	NM_016219.5(MAN1B1):c.1976T>G (p.Phe659Cys)	SNV	Uncertain significance	915201		GRCh37: 9:140002919-140002919 GRCh38: 9:137108467-137108467
30	MAN1B1	NM_016219.5(MAN1B1):c.*587C>G	SNV	Uncertain significance	915239		GRCh37: 9:140003630-140003630 GRCh38: 9:137109178-137109178
31	MAN1B1	NM_016219.5(MAN1B1):c.881C>T (p.Ala294Val)	SNV	Uncertain significance	933941		GRCh37: 9:139994298-139994298 GRCh38: 9:137099846-137099846
32	MAN1B1	NM_016219.5(MAN1B1):c.1841G>A (p.Arg614His)	SNV	Uncertain significance	129575	rs374247020	GRCh37: 9:140002059-140002059 GRCh38: 9:137107607-137107607
33	MAN1B1	NM_016219.5(MAN1B1):c.431C>T (p.Thr144Ile)	SNV	Uncertain significance	958223		GRCh37: 9:139983423-139983423 GRCh38: 9:137088971-137088971
34	MAN1B1	NM_016219.5(MAN1B1):c.1695G>A (p.Thr565=)	SNV	Uncertain significance	365968	rs372125925	GRCh37: 9:140001830-140001830 GRCh38: 9:137107378-137107378
35	MAN1B1	NM_016219.5(MAN1B1):c.657C>T (p.Thr219=)	SNV	Uncertain significance	365950	rs564784943	GRCh37: 9:139992316-139992316 GRCh38: 9:137097864-137097864
36	MAN1B1	NM_016219.5(MAN1B1):c.7G>T (p.Ala3Ser)	SNV	Uncertain significance	589168	rs573766677	GRCh37: 9:139981458-139981458 GRCh38: 9:137087006-137087006
37	MAN1B1	NM_016219.5(MAN1B1):c.905G>A (p.Gly302Asp)	SNV	Uncertain significance	587867	rs777884272	GRCh37: 9:139994322-139994322 GRCh38: 9:137099870-137099870
38	MAN1B1	NM_016219.5(MAN1B1):c.26G>C (p.Ser9Thr)	SNV	Uncertain significance	588165	rs140568381	GRCh37: 9:139981477-139981477 GRCh38: 9:137087025-137087025
39	MAN1B1	NM_016219.5(MAN1B1):c.1556G>T (p.Ser519Ile)	SNV	Uncertain significance	971969		GRCh37: 9:140001251-140001251 GRCh38: 9:137106799-137106799
40	MAN1B1	NM_016219.5(MAN1B1):c.587G>T (p.Arg196Leu)	SNV	Uncertain significance	996967		GRCh37: 9:139990810-139990810 GRCh38: 9:137096358-137096358
41	MAN1B1	NM_016219.5(MAN1B1):c.120GCC[3] (p.Pro44_Pro45del)	Microsatellite	Uncertain significance	996982		GRCh37: 9:139981569-139981574 GRCh38: 9:137087117-137087122
42	MAN1B1	NM_016219.5(MAN1B1):c.1950C>T (p.Pro650=)	SNV	Uncertain significance	435810	rs377461918	GRCh37: 9:140002893-140002893 GRCh38: 9:137108441-137108441
43	MAN1B1	NM_016219.5(MAN1B1):c.1474G>C (p.Glu492Gln)	SNV	Uncertain significance	998547		GRCh37: 9:140001169-140001169 GRCh38: 9:137106717-137106717
44	MAN1B1	NM_016219.5(MAN1B1):c.874A>G (p.Ile292Val)	SNV	Uncertain significance	1023415		GRCh37: 9:139994291-139994291 GRCh38: 9:137099839-137099839
45	MAN1B1	NM_016219.5(MAN1B1):c.304A>C (p.Ile102Leu)	SNV	Uncertain significance	435802	rs149322865	GRCh37: 9:139982611-139982611 GRCh38: 9:137088159-137088159
46	MAN1B1	NM_016219.5(MAN1B1):c.1724A>G (p.Asn575Ser)	SNV	Uncertain significance	365969	rs375378489	GRCh37: 9:140001859-140001859 GRCh38: 9:137107407-137107407
47	MAN1B1	NM_016219.5(MAN1B1):c.1680C>G (p.Asn560Lys)	SNV	Uncertain significance	1030543		GRCh37: 9:140001815-140001815 GRCh38: 9:137107363-137107363
48	MAN1B1	NM_016219.5(MAN1B1):c.1765-20G>C	SNV	Uncertain significance	1030544		GRCh37: 9:140001963-140001963 GRCh38: 9:137107511-137107511
49	MAN1B1	NM_016219.5(MAN1B1):c.994A>G (p.Thr332Ala)	SNV	Uncertain significance	1031955		GRCh37: 9:139995534-139995534 GRCh38: 9:137101082-137101082
50	MAN1B1	NM_016219.5(MAN1B1):c.1428C>T (p.Gly476=)	SNV	Uncertain significance	1033808		GRCh37: 9:140000750-140000750 GRCh38: 9:137106298-137106298

UniProtKB/Swiss-Prot genetic disease variations for Rafiq Syndrome:

⁷²

#	Symbol	AA change	Variation ID	SNP ID
1	MAN1B1	p.Arg334Cys	VAR_066592	rs387906886
2	MAN1B1	p.Glu397Lys	VAR_066593	rs387906885

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Expression for Rafiq Syndrome

Search GEO for disease gene expression data for Rafiq Syndrome.

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Pathways for Rafiq Syndrome

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GO Terms for Rafiq Syndrome

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Sources for Rafiq Syndrome

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Rafiq Syndrome (RAFQS)

Aliases & Classifications for Rafiq Syndrome

MalaCards integrated aliases for Rafiq Syndrome:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Rafiq Syndrome

Related Diseases for Rafiq Syndrome

Symptoms & Phenotypes for Rafiq Syndrome

Human phenotypes related to Rafiq Syndrome:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Rafiq Syndrome

Genetic Tests for Rafiq Syndrome

Genetic tests related to Rafiq Syndrome:

Anatomical Context for Rafiq Syndrome

MalaCards organs/tissues related to Rafiq Syndrome:

Publications for Rafiq Syndrome

Articles related to Rafiq Syndrome:

Genes for Rafiq Syndrome

Genes related to Rafiq Syndrome (1 elite genes):

Variations for Rafiq Syndrome

ClinVar genetic disease variations for Rafiq Syndrome:

UniProtKB/Swiss-Prot genetic disease variations for Rafiq Syndrome:

Expression for Rafiq Syndrome

Pathways for Rafiq Syndrome

GO Terms for Rafiq Syndrome

Sources for Rafiq Syndrome