MCID: RFM002
MIFTS: 24

Roifman-Chitayat Syndrome

Categories: Blood diseases, Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Roifman-Chitayat Syndrome

MalaCards integrated aliases for Roifman-Chitayat Syndrome:

Name: Roifman-Chitayat Syndrome 57 58 13 70
Combined Immunodeficiency, Facial Dysmorphism, Optic Nerve Atrophy, Skeletal Anomalies, and Developmental Delay 57
Combined Immunodeficiency with Faciooculoskeletal Anomalies 58

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
one family with 2 sisters have been reported (as of march 2010)


HPO:

31
roifman-chitayat syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis
Rare immunological diseases


Summaries for Roifman-Chitayat Syndrome

MalaCards based summary : Roifman-Chitayat Syndrome, also known as combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies, and developmental delay, is related to immune deficiency disease and 3-methylglutaconic aciduria, type iii, and has symptoms including myoclonic seizures An important gene associated with Roifman-Chitayat Syndrome is KNSTRN (Kinetochore Localized Astrin (SPAG5) Binding Protein). Affiliated tissues include eye, t cells and kidney, and related phenotypes are intellectual disability and ataxia

More information from OMIM: 613328

Related Diseases for Roifman-Chitayat Syndrome

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

# Related Disease Score Top Affiliating Genes
1 immune deficiency disease 10.5
2 3-methylglutaconic aciduria, type iii 10.5
3 combined immunodeficiency 10.5
4 severe combined immunodeficiency 10.5

Symptoms & Phenotypes for Roifman-Chitayat Syndrome

Human phenotypes related to Roifman-Chitayat Syndrome:

58 31 (show top 50) (show all 78)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
2 ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0001251
3 osteopenia 58 31 frequent (33%) Frequent (79-30%) HP:0000938
4 hyperlordosis 58 31 frequent (33%) Frequent (79-30%) HP:0003307
5 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
6 depressed nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0005280
7 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
8 arthritis 58 31 frequent (33%) Frequent (79-30%) HP:0001369
9 wide nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000431
10 umbilical hernia 58 31 frequent (33%) Frequent (79-30%) HP:0001537
11 abnormal facial shape 58 31 frequent (33%) Frequent (79-30%) HP:0001999
12 neonatal hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001319
13 gastroesophageal reflux 58 31 frequent (33%) Frequent (79-30%) HP:0002020
14 wide intermamillary distance 58 31 frequent (33%) Frequent (79-30%) HP:0006610
15 low posterior hairline 58 31 frequent (33%) Frequent (79-30%) HP:0002162
16 palpebral edema 58 31 frequent (33%) Frequent (79-30%) HP:0100540
17 neonatal respiratory distress 58 31 frequent (33%) Frequent (79-30%) HP:0002643
18 protruding ear 58 31 frequent (33%) Frequent (79-30%) HP:0000411
19 deeply set eye 58 31 frequent (33%) Frequent (79-30%) HP:0000490
20 ventriculomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002119
21 recurrent urinary tract infections 58 31 frequent (33%) Frequent (79-30%) HP:0000010
22 high forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000348
23 pes cavus 58 31 frequent (33%) Frequent (79-30%) HP:0001761
24 underdeveloped supraorbital ridges 58 31 frequent (33%) Frequent (79-30%) HP:0009891
25 positive romberg sign 58 31 frequent (33%) Frequent (79-30%) HP:0002403
26 cone-shaped epiphysis 58 31 frequent (33%) Frequent (79-30%) HP:0010579
27 unilateral renal agenesis 58 31 frequent (33%) Frequent (79-30%) HP:0000122
28 broad nasal tip 58 31 frequent (33%) Frequent (79-30%) HP:0000455
29 psoriasiform dermatitis 58 31 frequent (33%) Frequent (79-30%) HP:0003765
30 intention tremor 58 31 frequent (33%) Frequent (79-30%) HP:0002080
31 recurrent aspiration pneumonia 58 31 frequent (33%) Frequent (79-30%) HP:0002100
32 short distal phalanx of the thumb 58 31 frequent (33%) Frequent (79-30%) HP:0009650
33 optic nerve hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0000609
34 decreased circulating total igm 58 31 frequent (33%) Frequent (79-30%) HP:0002850
35 hypertrichosis 58 31 frequent (33%) Frequent (79-30%) HP:0000998
36 hyperpigmentation of the skin 58 31 frequent (33%) Frequent (79-30%) HP:0000953
37 recurrent bacterial infections 58 31 frequent (33%) Frequent (79-30%) HP:0002718
38 recurrent viral infections 58 31 frequent (33%) Frequent (79-30%) HP:0004429
39 lacrimal duct stenosis 58 31 frequent (33%) Frequent (79-30%) HP:0007678
40 b lymphocytopenia 58 31 frequent (33%) Frequent (79-30%) HP:0010976
41 myopathic facies 58 31 frequent (33%) Frequent (79-30%) HP:0002058
42 clinodactyly of the 4th finger 58 31 frequent (33%) Frequent (79-30%) HP:0040025
43 abnormality of the chin 58 31 frequent (33%) Frequent (79-30%) HP:0000306
44 recurrent ear infections 58 31 frequent (33%) Frequent (79-30%) HP:0410018
45 clinodactyly of the 2nd finger 58 31 frequent (33%) Frequent (79-30%) HP:0040022
46 nasogastric tube feeding 58 31 frequent (33%) Frequent (79-30%) HP:0040288
47 thin lower lip vermilion 58 31 frequent (33%) Frequent (79-30%) HP:0010282
48 chronic oral candidiasis 58 31 frequent (33%) Frequent (79-30%) HP:0009098
49 reduced natural killer cell count 58 31 frequent (33%) Frequent (79-30%) HP:0040218
50 clinodactyly of the 3rd finger 58 31 frequent (33%) Frequent (79-30%) HP:0040024

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Neck:
short neck

Head And Neck Eyes:
hypertelorism
lacrimal duct stenosis
thin optic nerves
puffy and droopy eyelids

Abdomen External Features:
umbilical hernia

Neurologic Central Nervous System:
myoclonic seizures
developmental delay
dilated ventricles

Skeletal Feet:
short metatarsals

Head And Neck Face:
hypoplastic supraorbital ridges
square chin

Head And Neck Mouth:
thin lower lip

Genitourinary Kidneys:
cross-fused renal ectopia

Skeletal:
osteopenia
cone-shaped epiphyses

Immunology:
arthritis
repeated invasive infections
normal or elevated lymphocytes
low t-cell function
low igg with antibody deficiency

Respiratory Airways:
pneumonia

Skeletal Hands:
short metacarpals

Head And Neck Nose:
flat nasal bridge
broad nasal root

Cardiovascular Vascular:
aberrant subclavian artery

Abdomen Gastrointestinal:
esophageal dyskinesia

Clinical features from OMIM®:

613328 (Updated 05-Apr-2021)

UMLS symptoms related to Roifman-Chitayat Syndrome:


myoclonic seizures

Drugs & Therapeutics for Roifman-Chitayat Syndrome

Search Clinical Trials , NIH Clinical Center for Roifman-Chitayat Syndrome

Genetic Tests for Roifman-Chitayat Syndrome

Anatomical Context for Roifman-Chitayat Syndrome

MalaCards organs/tissues related to Roifman-Chitayat Syndrome:

40
Eye, T Cells, Kidney

Publications for Roifman-Chitayat Syndrome

Articles related to Roifman-Chitayat Syndrome:

# Title Authors PMID Year
1
Combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies and developmental delay: a new syndrome. 61 57
19863561 2009
2
Dual loss of p110δ PI3-kinase and SKAP (KNSTRN) expression leads to combined immunodeficiency and multisystem syndromic features. 61
29180244 2018

Variations for Roifman-Chitayat Syndrome

Expression for Roifman-Chitayat Syndrome

Search GEO for disease gene expression data for Roifman-Chitayat Syndrome.

Pathways for Roifman-Chitayat Syndrome

GO Terms for Roifman-Chitayat Syndrome

Biological processes related to Roifman-Chitayat Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell migration GO:0016477 8.62 PIK3CD KNSTRN

Sources for Roifman-Chitayat 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
Content
Loading form....