MCID: RNG029
MIFTS: 27

Ring Chromosome 14 Syndrome

Categories: Rare diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Ring Chromosome 14 Syndrome

MalaCards integrated aliases for Ring Chromosome 14 Syndrome:

Name: Ring Chromosome 14 Syndrome 53 49 24 55 69
Ring Chromosome 14 49 24 55 28
Ring 14 49 24 55
Chromosome 14 Ring 49
Ring 14 Syndrome 24

Characteristics:

Orphanet epidemiological data:

55
ring chromosome 14 syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

53
Miscellaneous:
onset in infancy
one report of a mother who was mosaic for ring chromosome 14 transmitting it to her 2 sons

Inheritance:
isolated cases


HPO:

31
ring chromosome 14 syndrome:
Onset and clinical course infantile onset
Inheritance sporadic


Classifications:



External Ids:

OMIM 53 616606
Orphanet 55 ORPHA1440
MESH via Orphanet 42 C535487
UMLS via Orphanet 70 C2930916
ICD10 via Orphanet 33 Q93.2
MedGen 39 C2930916
UMLS 69 C2930916

Summaries for Ring Chromosome 14 Syndrome

NIH Rare Diseases : 49 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1440Disease definitionRing chromosome 14 syndrome is characterized by intellectual deficit, retinal and skin pigmentation disorders, seizures, and dysmorphic features, including flat occiput, epicanthal folds, downward slanting eyes, flat nasal bridge, upturned nostrils, short neck, and large low set ears.EpidemiologyIt has been described in about 50 patients.Visit the Orphanet disease page for more resources. Last updated: 9/22/2006

MalaCards based summary : Ring Chromosome 14 Syndrome, also known as ring chromosome 14, is related to epilepsy and status epilepticus, and has symptoms including hypertelorism, low-set ears and short neck. An important gene associated with Ring Chromosome 14 Syndrome is RC14S (Ring Chromosome 14 Syndrome). Affiliated tissues include skin and eye.

OMIM : 53 Ring chromosome 14 syndrome is characterized by early-onset epilepsy, developmental delay with mental retardation and poor speech, microcephaly, and dysmorphic facial features. Additional variable features include hypotonia and retinopathy (summary by Imataka et al., 2013 and Giovannini et al., 2013). (616606)

Genetics Home Reference : 24 Ring chromosome 14 syndrome is a condition characterized by seizures and intellectual disability. Recurrent seizures (epilepsy) develop in infancy or early childhood. In many cases, the seizures are resistant to treatment with anti-epileptic drugs. Most people with ring chromosome 14 syndrome also have some degree of intellectual disability or learning problems. Development may be delayed, particularly the development of speech and of motor skills such as sitting, standing, and walking.

Wikipedia : 72 Ring chromosome 14 syndrome is a very rare human chromosome abnormality. It occurs when one or both of... more...

Related Diseases for Ring Chromosome 14 Syndrome

Symptoms & Phenotypes for Ring Chromosome 14 Syndrome

Symptoms via clinical synopsis from OMIM:

53
HeadAndNeckEyes:
hypertelorism
downslanting palpebral fissures
epicanthal folds
pigmentary retinopathy (in some patients)

HeadAndNeckNeck:
short neck

HeadAndNeckHead:
microcephaly
dolichocephaly
flat occiput

MuscleSoftTissue:
hypotonia

GrowthOther:
poor growth

HeadAndNeckEars:
low-set ears

NeurologicCentralNervousSystem:
intellectual disability
status epilepticus
poor speech
delayed psychomotor development
seizures, severe, prolonged, refractory
more
HeadAndNeckNose:
anteverted nostrils
flat nasal bridge

HeadAndNeckMouth:
high-arched palate

SkinNailsHairSkin:
pigmentary abnormalities (in some patients)


Clinical features from OMIM:

616606

Human phenotypes related to Ring Chromosome 14 Syndrome:

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 31 HP:0000316
2 low-set ears 31 HP:0000369
3 short neck 31 HP:0000470
4 high palate 31 HP:0000218
5 intellectual disability 31 HP:0001249
6 global developmental delay 31 HP:0001263
7 depressed nasal bridge 31 HP:0005280
8 microcephaly 31 HP:0000252
9 anteverted nares 31 HP:0000463
10 epicanthus 31 HP:0000286
11 dolichocephaly 31 HP:0000268
12 growth delay 31 HP:0001510
13 downslanted palpebral fissures 31 HP:0000494
14 flat occiput 31 HP:0005469
15 status epilepticus 31 HP:0002133
16 generalized hypotonia 31 HP:0001290
17 pigmentary retinopathy 31 occasional (7.5%) HP:0000580
18 poor speech 31 HP:0002465

Drugs & Therapeutics for Ring Chromosome 14 Syndrome

Search Clinical Trials , NIH Clinical Center for Ring Chromosome 14 Syndrome

Genetic Tests for Ring Chromosome 14 Syndrome

Genetic tests related to Ring Chromosome 14 Syndrome:

# Genetic test Affiliating Genes
1 Ring Chromosome 14 28

Anatomical Context for Ring Chromosome 14 Syndrome

MalaCards organs/tissues related to Ring Chromosome 14 Syndrome:

38
Skin, Eye

Publications for Ring Chromosome 14 Syndrome

Articles related to Ring Chromosome 14 Syndrome:

# Title Authors Year
1
Ring chromosome 14 syndrome presenting with intractable epilepsy: a case report. ( 24382541 )
2013
2
Partial epilepsy complicated by convulsive and nonconvulsive episodes of status epilepticus in a patient with ring chromosome 14 syndrome. ( 20643614 )
2010
3
Ring chromosome 14 syndrome. Report of two cases, including extended evaluation of a previously reported patient and review. ( 1746891 )
1991
4
Ring chromosome 14 syndrome. ( 6982671 )
1982

Variations for Ring Chromosome 14 Syndrome

Expression for Ring Chromosome 14 Syndrome

Search GEO for disease gene expression data for Ring Chromosome 14 Syndrome.

Pathways for Ring Chromosome 14 Syndrome

GO Terms for Ring Chromosome 14 Syndrome

Sources for Ring Chromosome 14 Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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