MCID: RFM001
MIFTS: 32

Roifman Syndrome

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

Aliases & Classifications for Roifman Syndrome

MalaCards integrated aliases for Roifman Syndrome:

Name: Roifman Syndrome 57 53 59 37 29 13 6 73
Spondyloepiphyseal Dysplasia, Retinal Dystrophy, and Antibody Deficiency 57
Spondyloepiphyseal Dysplasia-Retinal Dystrophy-Immunodeficiency Syndrome 59
Spondyloepiphseal Dysplasia, Retinal Dystrophy and Antibody Deficiency 53
Syndrome, Roifman 40
Rfmn 57

Characteristics:

Orphanet epidemiological data:

59
roifman syndrome
Inheritance: Autosomal recessive,X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
roifman syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Roifman Syndrome

OMIM : 57 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 11.2
2 spondyloenchondrodysplasia with immune dysregulation 11.1
3 alacrima, achalasia, and mental retardation syndrome 9.9
4 hypogonadism 9.9
5 corpus callosum, partial agenesis of, x-linked 9.9

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



Diseases related to Roifman Syndrome

Symptoms & Phenotypes for Roifman Syndrome

Symptoms via clinical synopsis from OMIM:

57
AbdomenSpleen:
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

Human phenotypes related to Roifman Syndrome:

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

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 29 RNU4ATAC

Anatomical Context for Roifman Syndrome

MalaCards organs/tissues related to Roifman Syndrome:

41
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
A homozygous mutation in the stem II domain of<i>RNU4ATAC</i>causes typical Roifman syndrome. ( 29263834 )
2017
3
Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing. ( 26522830 )
2015
4
Partial agenesis of the corpus callosum, hippocampal atrophy, and stable intellectual disability associated with Roifman syndrome. ( 21910238 )
2011
5
Is Roifman syndrome an X-linked ciliopathy with humoral immunodeficiency? Evidence from 2 new cases. ( 21977988 )
2011
6
The cognitive and behavioural phenotype of Roifman syndrome. ( 16901296 )
2006
7
Noncompaction of the myocardium associated with Roifman syndrome. ( 11293748 )
2001
8
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.51G> A single nucleotide variant Pathogenic rs188343279 GRCh37 Chromosome 2, 122288506: 122288506
2 RNU4ATAC NR_023343.1(RNU4ATAC): n.51G> A single nucleotide variant Pathogenic rs188343279 GRCh38 Chromosome 2, 121530930: 121530930
3 RNU4ATAC NR_023343.1(RNU4ATAC): n.16G> A single nucleotide variant Pathogenic rs750325275 GRCh37 Chromosome 2, 122288471: 122288471
4 RNU4ATAC NR_023343.1(RNU4ATAC): n.16G> A single nucleotide variant Pathogenic rs750325275 GRCh38 Chromosome 2, 121530895: 121530895
5 RNU4ATAC NR_023343.1(RNU4ATAC): n.13C> T single nucleotide variant Pathogenic rs559979281 GRCh37 Chromosome 2, 122288468: 122288468
6 RNU4ATAC NR_023343.1(RNU4ATAC): n.13C> T single nucleotide variant Pathogenic rs559979281 GRCh38 Chromosome 2, 121530892: 121530892
7 RNU4ATAC NR_023343.1(RNU4ATAC): n.37G> A single nucleotide variant Pathogenic rs756026847 GRCh37 Chromosome 2, 122288492: 122288492
8 RNU4ATAC NR_023343.1(RNU4ATAC): n.37G> A single nucleotide variant Pathogenic rs756026847 GRCh38 Chromosome 2, 121530916: 121530916
9 RNU4ATAC NR_023343.1(RNU4ATAC): n.48G> A single nucleotide variant Pathogenic rs863225422 GRCh37 Chromosome 2, 122288503: 122288503
10 RNU4ATAC NR_023343.1(RNU4ATAC): n.48G> A single nucleotide variant Pathogenic rs863225422 GRCh38 Chromosome 2, 121530927: 121530927
11 RNU4ATAC NR_023343.1(RNU4ATAC): n.8C> T single nucleotide variant Pathogenic rs370715569 GRCh37 Chromosome 2, 122288463: 122288463
12 RNU4ATAC NR_023343.1(RNU4ATAC): n.8C> T single nucleotide variant Pathogenic rs370715569 GRCh38 Chromosome 2, 121530887: 121530887
13 RNU4ATAC NR_023343.1(RNU4ATAC): n.118T> C single nucleotide variant Pathogenic rs863225423 GRCh37 Chromosome 2, 122288573: 122288573
14 RNU4ATAC NR_023343.1(RNU4ATAC): n.118T> C single nucleotide variant Pathogenic rs863225423 GRCh38 Chromosome 2, 121530997: 121530997

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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