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 ⁷³ ²⁹ ¹³ ⁶

Mrt15 ⁵⁷ ⁷³

Mental Retardation Non-Syndromic Autosomal Recessive 15 ⁷³

Mental Retardation, Autosomal Recessive 15; Mrt15 ⁵⁷

Mental Retardation, Autosomal Recessive, Type 15 ³⁹

Rafqs ⁵⁷

Cdg2u ⁵⁷

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Mar-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

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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-Mar-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 : ⁷³ 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-Mar-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-Mar-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. ⁵⁷ ⁶¹ ⁶	Rafiq MA...Najmabadi H	21763484	2011
2	MAN1B-CDG: Novel variants with a distinct phenotype and review of literature. ⁶ ⁵⁷	Balasubramanian M...DDD Study	29908352	2019
3	MAN1B1 Mutation Leads to a Recognizable Phenotype: A Case Report and Future Prospects. ⁵⁷ ⁶	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. ⁶ ⁵⁷	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 ⁷³ 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 147)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	MAN1B1	NM_016219.5(MAN1B1):c.1189G>A (p.Glu397Lys)	SNV	Pathogenic	30413	rs387906885	9:139996059-139996059	9:137101607-137101607
2	MAN1B1	NM_016219.5(MAN1B1):c.1418G>A (p.Trp473Ter)	SNV	Pathogenic	30414	rs1564311909	9:140000740-140000740	9:137106288-137106288
3	MAN1B1	NM_016219.5(MAN1B1):c.1274_1275CA[1] (p.Gln426fs)	Microsatellite	Pathogenic	203378	rs794729645	9:140000595-140000596	9:137106143-137106144
4	MAN1B1	NM_016219.5(MAN1B1):c.179dup (p.Tyr60Ter)	Duplication	Pathogenic	802546	rs1377102705	9:139981629-139981630	9:137087177-137087178
5	MAN1B1	NM_016219.5(MAN1B1):c.1225T>C (p.Ser409Pro)	SNV	Pathogenic	983290		9:139996095-139996095	9:137101643-137101643
6	MAN1B1	NM_016219.5(MAN1B1):c.172G>T (p.Glu58Ter)	SNV	Pathogenic	816942	rs753503405	9:139981623-139981623	9:137087171-137087171
7	MAN1B1	NM_016219.5(MAN1B1):c.1445+2_1445+5del	Deletion	Pathogenic	983293		9:140000767-140000770	9:137106315-137106318
8	MAN1B1	NG_031978.1:g.8539_14992del	Deletion	Pathogenic	983294
9	MAN1B1	NM_016219.5(MAN1B1):c.621-2A>G	SNV	Pathogenic	983295		9:139992278-139992278	9:137097826-137097826
10	MAN1B1	NM_016219.5(MAN1B1):c.761_764del (p.Ile254fs)	Deletion	Pathogenic	983297		9:139994175-139994178	9:137099723-137099726
11	MAN1B1	NM_016219.5(MAN1B1):c.1311del (p.Leu438fs)	Deletion	Pathogenic	983298		9:140000631-140000631	9:137106179-137106179
12	MAN1B1	NM_016219.5(MAN1B1):c.1000C>T (p.Arg334Cys)	SNV	Pathogenic	30415	rs387906886	9:139995540-139995540	9:137101088-137101088
13	MAN1B1	NM_016219.5(MAN1B1):c.1833_1834del (p.Asp613fs)	Deletion	Pathogenic	521615	rs1382373816	9:140002051-140002052	9:137107599-137107600
14	MAN1B1	NM_016219.5(MAN1B1):c.530_542del (p.Leu177fs)	Deletion	Likely pathogenic	211429	rs797045688	9:139990752-139990764	9:137096300-137096312
15	MAN1B1	NM_016219.5(MAN1B1):c.1942C>T (p.Gln648Ter)	SNV	Likely pathogenic	495322	rs1164484724	9:140002885-140002885	9:137108433-137108433
16	MAN1B1	NM_016219.5(MAN1B1):c.882G>A (p.Ala294=)	SNV	Conflicting interpretations of pathogenicity	749399	rs750236367	9:139994299-139994299	9:137099847-137099847
17	MAN1B1	NM_016219.5(MAN1B1):c.768C>T (p.Val256=)	SNV	Conflicting interpretations of pathogenicity	365954	rs145906530	9:139994185-139994185	9:137099733-137099733
18	MAN1B1	NM_016219.5(MAN1B1):c.1312C>T (p.Leu438=)	SNV	Conflicting interpretations of pathogenicity	595523	rs150942110	9:140000634-140000634	9:137106182-137106182
19	MAN1B1	NM_016219.5(MAN1B1):c.1173C>T (p.Ser391=)	SNV	Conflicting interpretations of pathogenicity	435805	rs145704211	9:139996043-139996043	9:137101591-137101591
20	MAN1B1	NM_016219.5(MAN1B1):c.635T>G (p.Val212Gly)	SNV	Conflicting interpretations of pathogenicity	211430	rs186504463	9:139992294-139992294	9:137097842-137097842
21	MAN1B1	NM_016219.5(MAN1B1):c.1433A>G (p.Lys478Arg)	SNV	Conflicting interpretations of pathogenicity	211420	rs138658585	9:140000755-140000755	9:137106303-137106303
22	MAN1B1	NM_016219.5(MAN1B1):c.1800C>T (p.Thr600=)	SNV	Conflicting interpretations of pathogenicity	211422	rs146417316	9:140002018-140002018	9:137107566-137107566
23	MAN1B1	NM_016219.5(MAN1B1):c.426G>A (p.Ala142=)	SNV	Conflicting interpretations of pathogenicity	798643	rs199738190	9:139983418-139983418	9:137088966-137088966
24	MAN1B1	NM_016219.5(MAN1B1):c.1742G>A (p.Gly581Asp)	SNV	Conflicting interpretations of pathogenicity	435808	rs376968555	9:140001877-140001877	9:137107425-137107425
25	MAN1B1	NM_016219.5(MAN1B1):c.2020G>A (p.Asp674Asn)	SNV	Conflicting interpretations of pathogenicity	129571	rs181795958	9:140002963-140002963	9:137108511-137108511
26	MAN1B1	NM_016219.5(MAN1B1):c.1991C>T (p.Thr664Met)	SNV	Uncertain significance	435811	rs200428790	9:140002934-140002934	9:137108482-137108482
27	MAN1B1	NM_016219.5(MAN1B1):c.1695G>A (p.Thr565=)	SNV	Uncertain significance	365968	rs372125925	9:140001830-140001830	9:137107378-137107378
28	MAN1B1	NM_016219.5(MAN1B1):c.657C>T (p.Thr219=)	SNV	Uncertain significance	365950	rs564784943	9:139992316-139992316	9:137097864-137097864
29	MAN1B1	NM_016219.5(MAN1B1):c.677C>G (p.Ala226Gly)	SNV	Uncertain significance	849368		9:139992336-139992336	9:137097884-137097884
30	MAN1B1	NM_016219.5(MAN1B1):c.689C>T (p.Thr230Ile)	SNV	Uncertain significance	855081		9:139992348-139992348	9:137097896-137097896
31	MAN1B1	NM_016219.5(MAN1B1):c.1976T>G (p.Phe659Cys)	SNV	Uncertain significance	915201		9:140002919-140002919	9:137108467-137108467
32	MAN1B1	NM_016219.5(MAN1B1):c.*587C>G	SNV	Uncertain significance	915239		9:140003630-140003630	9:137109178-137109178
33	MAN1B1	NM_016219.5(MAN1B1):c.881C>T (p.Ala294Val)	SNV	Uncertain significance	933941		9:139994298-139994298	9:137099846-137099846
34	MAN1B1	NM_016219.5(MAN1B1):c.1841G>A (p.Arg614His)	SNV	Uncertain significance	129575	rs374247020	9:140002059-140002059	9:137107607-137107607
35	MAN1B1	NM_016219.5(MAN1B1):c.431C>T (p.Thr144Ile)	SNV	Uncertain significance	958223		9:139983423-139983423	9:137088971-137088971
36	MAN1B1	NM_016219.5(MAN1B1):c.1556G>T (p.Ser519Ile)	SNV	Uncertain significance	971969		9:140001251-140001251	9:137106799-137106799
37	MAN1B1	NM_016219.5(MAN1B1):c.7G>T (p.Ala3Ser)	SNV	Uncertain significance	589168	rs573766677	9:139981458-139981458	9:137087006-137087006
38	MAN1B1	NM_016219.5(MAN1B1):c.304A>C (p.Ile102Leu)	SNV	Uncertain significance	435802	rs149322865	9:139982611-139982611	9:137088159-137088159
39	MAN1B1	NM_016219.5(MAN1B1):c.905G>A (p.Gly302Asp)	SNV	Uncertain significance	587867	rs777884272	9:139994322-139994322	9:137099870-137099870
40	MAN1B1	NM_016219.5(MAN1B1):c.1950C>T (p.Pro650=)	SNV	Uncertain significance	435810	rs377461918	9:140002893-140002893	9:137108441-137108441
41	MAN1B1	NM_016219.5(MAN1B1):c.26G>C (p.Ser9Thr)	SNV	Uncertain significance	588165	rs140568381	9:139981477-139981477	9:137087025-137087025
42	MAN1B1	NM_016219.5(MAN1B1):c.603G>A (p.Pro201=)	SNV	Uncertain significance	912427		9:139990826-139990826	9:137096374-137096374
43	MAN1B1	NM_016219.5(MAN1B1):c.678A>C (p.Ala226=)	SNV	Uncertain significance	912428		9:139992337-139992337	9:137097885-137097885
44	MAN1B1	NM_016219.5(MAN1B1):c.731-8C>T	SNV	Uncertain significance	912429		9:139994140-139994140	9:137099688-137099688
45	MAN1B1	NM_016219.5(MAN1B1):c.1492C>T (p.Leu498=)	SNV	Uncertain significance	912459		9:140001187-140001187	9:137106735-137106735
46	MAN1B1	NM_016219.5(MAN1B1):c.2080C>G (p.Pro694Ala)	SNV	Uncertain significance	912491		9:140003023-140003023	9:137108571-137108571
47	MAN1B1	NM_016219.5(MAN1B1):c.*62A>G	SNV	Uncertain significance	912492		9:140003105-140003105	9:137108653-137108653
48	MAN1B1	NM_016219.5(MAN1B1):c.*86C>T	SNV	Uncertain significance	912493		9:140003129-140003129	9:137108677-137108677
49	MAN1B1	NM_016219.5(MAN1B1):c.159G>A (p.Thr53=)	SNV	Uncertain significance	913496		9:139981610-139981610	9:137087158-137087158
50	MAN1B1	NM_016219.5(MAN1B1):c.163A>C (p.Ser55Arg)	SNV	Uncertain significance	913497		9:139981614-139981614	9:137087162-137087162

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

⁷³

#	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