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 57 53 59 72
Poikiloderma, Alopecia, Retrognathism, and Cleft Palate 57 53
Poikiloderma-Alopecia-Retrognathism-Cleft Palate Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
parc syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
? autosomal dominant


HPO:

32
parc syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 600331
MESH via Orphanet 45 C537174
ICD10 via Orphanet 34 Q87.8
UMLS via Orphanet 73 C1838256
Orphanet 59 ORPHA2825
MedGen 42 C1838256
UMLS 72 C1838256

Summaries for Parc Syndrome

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2825DefinitionPARC 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. Related phenotypes are cleft palate 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:

# Related Disease Score Top Affiliating Genes
1 cleft palate, isolated 10.0
2 rothmund-thomson syndrome 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:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 cleft palate 32 very rare (1%) HP:0000175
2 alopecia 32 very rare (1%) HP:0001596
3 microretrognathia 32 very rare (1%) HP:0000308
4 absent eyelashes 32 very rare (1%) HP:0000561
5 absent eyebrow 32 very rare (1%) HP:0002223
6 poikiloderma 32 very rare (1%) HP:0001029

Symptoms via clinical synopsis from OMIM:

57
Mouth:
cleft palate
retrognathia
microretrognathia

Skin:
poikiloderma

Hair:
alopecia
absent eyebrows and eyelashes
absent lanugo

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:

# Title Authors PMID Year
1
Poikiloderma, alopecia, retrognathism and cleft palate: the PARC syndrome. Is this an undescribed dominantly inherited syndrome? 38 8
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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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