RFMN
MCID: RFM001
MIFTS: 32

Roifman Syndrome (RFMN)

Categories: Blood diseases, Bone diseases, Fetal diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Roifman Syndrome

MalaCards integrated aliases for Roifman Syndrome:

Name: Roifman Syndrome 58 54 60 38 30 13 6 74
Spondyloepiphyseal Dysplasia, Retinal Dystrophy, and Antibody Deficiency 58
Spondyloepiphyseal Dysplasia-Retinal Dystrophy-Immunodeficiency Syndrome 60
Spondyloepiphseal Dysplasia, Retinal Dystrophy and Antibody Deficiency 54
Syndrome, Roifman 41
Rfmn 58

Characteristics:

Orphanet epidemiological data:

60
roifman syndrome
Inheritance: Autosomal recessive,X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
roifman syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Roifman Syndrome

OMIM : 58 Roifman syndrome is a rare autosomal recessive disorder characterized by growth retardation, spondyloepiphyseal dysplasia, cognitive delay, facial dysmorphism, and antibody deficiency (summary by Merico et al., 2015). (616651)

MalaCards based summary : Roifman Syndrome, also known as spondyloepiphyseal dysplasia, retinal dystrophy, and antibody deficiency, is related to roifman-chitayat syndrome and spondyloenchondrodysplasia with immune dysregulation. An important gene associated with Roifman Syndrome is RNU4ATAC (RNA, U4atac Small Nuclear (U12-Dependent Splicing)). Affiliated tissues include bone, heart and t cells, and related phenotypes are muscular hypotonia and global developmental delay

Related Diseases for Roifman Syndrome

Diseases related to Roifman Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 roifman-chitayat syndrome 11.3
2 spondyloenchondrodysplasia with immune dysregulation 11.3
3 corpus callosum, partial agenesis of, x-linked 10.0
4 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 10.0
5 alacrima, achalasia, and mental retardation syndrome 10.0
6 common variable immunodeficiency 10.0
7 hypogonadism 10.0

Graphical network of the top 20 diseases related to Roifman Syndrome:



Diseases related to Roifman Syndrome

Symptoms & Phenotypes for Roifman Syndrome

Human phenotypes related to Roifman Syndrome:

33 (show all 39)
# Description HPO Frequency HPO Source Accession
1 muscular hypotonia 33 very rare (1%) HP:0001252
2 global developmental delay 33 very rare (1%) HP:0001263
3 microcephaly 33 very rare (1%) HP:0000252
4 anteverted nares 33 very rare (1%) HP:0000463
5 long philtrum 33 very rare (1%) HP:0000343
6 intrauterine growth retardation 33 very rare (1%) HP:0001511
7 postnatal growth retardation 33 very rare (1%) HP:0008897
8 clinodactyly of the 5th finger 33 very rare (1%) HP:0004209
9 ventricular septal defect 33 very rare (1%) HP:0001629
10 thin upper lip vermilion 33 very rare (1%) HP:0000219
11 eczema 33 very rare (1%) HP:0000964
12 short metacarpal 33 very rare (1%) HP:0010049
13 single transverse palmar crease 33 very rare (1%) HP:0000954
14 retinal dystrophy 33 very rare (1%) HP:0000556
15 narrow nose 33 very rare (1%) HP:0000460
16 noncompaction cardiomyopathy 33 very rare (1%) HP:0012817
17 short digit 33 very rare (1%) HP:0011927
18 splenomegaly 33 HP:0001744
19 hepatomegaly 33 HP:0002240
20 short stature 33 HP:0004322
21 intellectual disability, mild 33 HP:0001256
22 recurrent otitis media 33 HP:0000403
23 short toe 33 HP:0001831
24 underdeveloped nasal alae 33 HP:0000430
25 downslanted palpebral fissures 33 HP:0000494
26 brachydactyly 33 HP:0001156
27 downturned corners of mouth 33 HP:0002714
28 recurrent pneumonia 33 HP:0006532
29 long palpebral fissure 33 HP:0000637
30 hip contracture 33 HP:0003273
31 lymphadenopathy 33 HP:0002716
32 premature birth 33 HP:0001622
33 generalized hypotonia 33 HP:0001290
34 eosinophilia 33 HP:0001880
35 irregular vertebral endplates 33 HP:0003301
36 spondyloepiphyseal dysplasia 33 HP:0002655
37 biconvex vertebral bodies 33 HP:0004625
38 irregular femoral epiphysis 33 HP:0006361
39 prominent eyelashes 33 HP:0011231

Symptoms via clinical synopsis from OMIM:

58
Abdomen Spleen:
splenomegaly

Head And Neck Face:
long philtrum

Head And Neck Mouth:
downturned corners of mouth
thin upper lip

Skin Nails Hair Skin:
eczema

Hematology:
eosinophilia

Head And Neck Nose:
narrow nose
hypoplastic alae nasi
upturned nose
tubular nose

Skeletal:
spondyloepiphyseal dysplasia

Skin Nails Hair Nails:
hyperconvex nails

Head And Neck Head:
microcephaly (in some patients)

Prenatal Manifestations Delivery:
preterm delivery

Growth Other:
intrauterine growth restriction (iugr)

Skin Nails Hair Hair:
long, prominent eyelashes

Abdomen Liver:
hepatomegaly

Skeletal Hands:
brachydactyly
fifth finger clinodactyly
bilateral transverse palmar creases
small 3rd and 4th metacarpals

Respiratory Lung:
recurrent pneumonia

Immunology:
lymphadenopathy
recurrent infections (otitis media and bacterial pneumonia)
normal igg, iga, igm, ige levels
low specific antibody titers (e.g., tetanus, polio virus, mumps, rubella)
normal t-cell numbers
more
Head And Neck Eyes:
retinal dystrophy
downslanting palpebral fissures
long palpebral fissures
arteriolar attenuation
long, prominent eyelashes
more
Skeletal Spine:
irregular vertebral endplates
biconvex vertebrae

Neurologic Central Nervous System:
hypotonia
delayed developmental milestones
mental retardation, borderline-mild

Skeletal Pelvis:
hip flexion contractures
small, irregular proximal femoral epiphyses
broad femoral heads and necks
delayed ossification of proximal femoral epiphyses

Skeletal Feet:
short toes

Head And Neck Ears:
otitis media, recurrent

Growth Height:
short stature (short trunk)

Cardiovascular Heart:
noncompaction of the heart (rare)

Clinical features from OMIM:

616651

Drugs & Therapeutics for Roifman Syndrome

Search Clinical Trials , NIH Clinical Center for Roifman Syndrome

Genetic Tests for Roifman Syndrome

Genetic tests related to Roifman Syndrome:

# Genetic test Affiliating Genes
1 Roifman Syndrome 30 RNU4ATAC

Anatomical Context for Roifman Syndrome

MalaCards organs/tissues related to Roifman Syndrome:

42
Bone, Heart, T Cells, B Cells

Publications for Roifman Syndrome

Articles related to Roifman Syndrome:

# Title Authors Year
1
Abnormal differentiation of B cells and megakaryocytes in Roifman syndrome. ( 29391254 )
2018
2
Extending the critical regions for mutations in the non-coding gene RNU4ATAC in another patient with Roifman Syndrome. ( 30455926 )
2018
3
A homozygous mutation in the stem II domain of<i>RNU4ATAC</i>causes typical Roifman syndrome. ( 29263834 )
2017
4
Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing. ( 26522830 )
2015
5
Partial agenesis of the corpus callosum, hippocampal atrophy, and stable intellectual disability associated with Roifman syndrome. ( 21910238 )
2011
6
Is Roifman syndrome an X-linked ciliopathy with humoral immunodeficiency? Evidence from 2 new cases. ( 21977988 )
2011
7
The cognitive and behavioural phenotype of Roifman syndrome. ( 16901296 )
2006
8
Noncompaction of the myocardium associated with Roifman syndrome. ( 11293748 )
2001
9
Hypogonadotrophic hypogonadism in Roifman syndrome. ( 10905663 )
2000

Variations for Roifman Syndrome

ClinVar genetic disease variations for Roifman Syndrome:

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 RNU4ATAC NR_023343.1(RNU4ATAC): n.16G> A single nucleotide variant Pathogenic rs750325275 GRCh37 Chromosome 2, 122288471: 122288471
2 RNU4ATAC NR_023343.1(RNU4ATAC): n.16G> A single nucleotide variant Pathogenic rs750325275 GRCh38 Chromosome 2, 121530895: 121530895
3 RNU4ATAC NR_023343.1(RNU4ATAC): n.13C> T single nucleotide variant Pathogenic rs559979281 GRCh37 Chromosome 2, 122288468: 122288468
4 RNU4ATAC NR_023343.1(RNU4ATAC): n.13C> T single nucleotide variant Pathogenic rs559979281 GRCh38 Chromosome 2, 121530892: 121530892
5 RNU4ATAC NR_023343.1(RNU4ATAC): n.37G> A single nucleotide variant Pathogenic rs756026847 GRCh37 Chromosome 2, 122288492: 122288492
6 RNU4ATAC NR_023343.1(RNU4ATAC): n.37G> A single nucleotide variant Pathogenic rs756026847 GRCh38 Chromosome 2, 121530916: 121530916
7 RNU4ATAC NR_023343.1(RNU4ATAC): n.48G> A single nucleotide variant Likely pathogenic rs863225422 GRCh37 Chromosome 2, 122288503: 122288503
8 RNU4ATAC NR_023343.1(RNU4ATAC): n.48G> A single nucleotide variant Likely pathogenic rs863225422 GRCh38 Chromosome 2, 121530927: 121530927
9 RNU4ATAC NR_023343.1(RNU4ATAC): n.8C> T single nucleotide variant Pathogenic rs370715569 GRCh37 Chromosome 2, 122288463: 122288463
10 RNU4ATAC NR_023343.1(RNU4ATAC): n.8C> T single nucleotide variant Pathogenic rs370715569 GRCh38 Chromosome 2, 121530887: 121530887
11 RNU4ATAC NR_023343.1(RNU4ATAC): n.118T> C single nucleotide variant Pathogenic rs863225423 GRCh37 Chromosome 2, 122288573: 122288573
12 RNU4ATAC NR_023343.1(RNU4ATAC): n.118T> C single nucleotide variant Pathogenic rs863225423 GRCh38 Chromosome 2, 121530997: 121530997
13 RNU4ATAC NR_023343.1(RNU4ATAC): n.51G> A single nucleotide variant Pathogenic rs188343279 GRCh37 Chromosome 2, 122288506: 122288506
14 RNU4ATAC NR_023343.1(RNU4ATAC): n.51G> A single nucleotide variant Pathogenic rs188343279 GRCh38 Chromosome 2, 121530930: 121530930

Expression for Roifman Syndrome

Search GEO for disease gene expression data for Roifman Syndrome.

Pathways for Roifman Syndrome

GO Terms for Roifman Syndrome

Sources for Roifman Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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