RAFQS
MCID: RFQ001
MIFTS: 27

Rafiq Syndrome (RAFQS)

Categories: Genetic diseases, Mental diseases, Neuronal diseases

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:



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.

Related Diseases for Rafiq Syndrome

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)

Drugs & Therapeutics for Rafiq Syndrome

Search Clinical Trials , NIH Clinical Center for Rafiq Syndrome

Genetic Tests for Rafiq Syndrome

Genetic tests related to Rafiq Syndrome:

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

Anatomical Context for Rafiq Syndrome

MalaCards organs/tissues related to Rafiq Syndrome:

40
Liver

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
21763484 2011
2
MAN1B-CDG: Novel variants with a distinct phenotype and review of literature. 57 6
29908352 2019
3
MAN1B1 Mutation Leads to a Recognizable Phenotype: A Case Report and Future Prospects. 6 57
26279649 2015
4
Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency. 57 6
24566669 2014
5
MAN1B1 deficiency: an unexpected CDG-II. 57 6
24348268 2013
6
Single-center experience of N-linked Congenital Disorders of Glycosylation with a Summary of Molecularly Characterized Cases in Arabs. 6
28940310 2018
7
Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots. 57
21063731 2011
8
Mapping of three novel loci for non-syndromic autosomal recessive mental retardation (NS-ARMR) in consanguineous families from Pakistan. 57
20345473 2010

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

Expression for Rafiq Syndrome

Search GEO for disease gene expression data for Rafiq Syndrome.

Pathways for Rafiq Syndrome

GO Terms for Rafiq Syndrome

Sources for Rafiq Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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