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 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:



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.

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-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)

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. 57 61 6
21763484 2011
2
MAN1B-CDG: Novel variants with a distinct phenotype and review of literature. 6 57
29908352 2019
3
MAN1B1 Mutation Leads to a Recognizable Phenotype: A Case Report and Future Prospects. 57 6
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. 6 57
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 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

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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