MCID: PRC021
MIFTS: 17

Parc Syndrome

Categories: Fetal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Parc Syndrome

MalaCards integrated aliases for Parc Syndrome:

Name: Parc Syndrome 56 52 58 71
Poikiloderma, Alopecia, Retrognathism, and Cleft Palate 56 52
Poikiloderma-Alopecia-Retrognathism-Cleft Palate Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
parc syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
? autosomal dominant


HPO:

31
parc syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 600331
MESH via Orphanet 44 C537174
ICD10 via Orphanet 33 Q87.8
UMLS via Orphanet 72 C1838256
Orphanet 58 ORPHA2825
MedGen 41 C1838256
UMLS 71 C1838256

Summaries for Parc Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2825 Definition PARC syndrome is a rare genetic developmental defect during embryogenesis syndrome characterized by the association of congenital poikiloderma (P), generalized alopecia (A), retrognathism (R) and cleft palate (C). There have been no further descriptions in the literature since 1990. Visit the Orphanet disease page for more resources.

MalaCards based summary : Parc Syndrome, also known as poikiloderma, alopecia, retrognathism, and cleft palate, is related to cleft palate, isolated and rothmund-thomson syndrome, type 2. Related phenotypes are absent eyelashes and alopecia

More information from OMIM: 600331

Related Diseases for Parc Syndrome

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

(showing 5, show less)
# Related Disease Score Top Affiliating Genes
1 cleft palate, isolated 10.0
2 rothmund-thomson syndrome, type 2 10.0
3 alopecia 10.0
4 erythrokeratoderma ''en cocardes'' 10.0
5 isolated pierre robin sequence 10.0

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



Diseases related to Parc Syndrome

Symptoms & Phenotypes for Parc Syndrome

Human phenotypes related to Parc Syndrome:

31 (showing 6, show less)
# Description HPO Frequency HPO Source Accession
1 absent eyelashes 31 very rare (1%) HP:0000561
2 alopecia 31 very rare (1%) HP:0001596
3 absent eyebrow 31 very rare (1%) HP:0002223
4 cleft palate 31 very rare (1%) HP:0000175
5 microretrognathia 31 very rare (1%) HP:0000308
6 poikiloderma 31 very rare (1%) HP:0001029

Symptoms via clinical synopsis from OMIM:

56
Hair:
alopecia
absent eyebrows and eyelashes
absent lanugo

Skin:
poikiloderma

Mouth:
cleft palate
retrognathia
microretrognathia

Clinical features from OMIM:

600331

Drugs & Therapeutics for Parc Syndrome

Search Clinical Trials , NIH Clinical Center for Parc Syndrome

Genetic Tests for Parc Syndrome

Anatomical Context for Parc Syndrome

Publications for Parc Syndrome

Articles related to Parc Syndrome:

(showing 1, show less)
# Title Authors PMID Year
1
Poikiloderma, alopecia, retrognathism and cleft palate: the PARC syndrome. Is this an undescribed dominantly inherited syndrome? 56 61
2242783 1990

Variations for Parc Syndrome

Expression for Parc Syndrome

Search GEO for disease gene expression data for Parc Syndrome.

Pathways for Parc Syndrome

GO Terms for Parc Syndrome

Sources for Parc Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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