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 58 54 60 74
Poikiloderma, Alopecia, Retrognathism, and Cleft Palate 58 54
Poikiloderma-Alopecia-Retrognathism-Cleft Palate Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
parc syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
? autosomal dominant


HPO:

33
parc syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 600331
MESH via Orphanet 46 C537174
ICD10 via Orphanet 35 Q87.8
UMLS via Orphanet 75 C1838256
Orphanet 60 ORPHA2825
MedGen 43 C1838256
UMLS 74 C1838256

Summaries for Parc Syndrome

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2825Disease definitionPARC 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 alopecia. Affiliated tissues include skin, and related phenotypes are cleft palate and alopecia

Description 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 alopecia 10.0

Symptoms & Phenotypes for Parc Syndrome

Human phenotypes related to Parc Syndrome:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 cleft palate 33 very rare (1%) HP:0000175
2 alopecia 33 very rare (1%) HP:0001596
3 microretrognathia 33 very rare (1%) HP:0000308
4 absent eyelashes 33 very rare (1%) HP:0000561
5 absent eyebrow 33 very rare (1%) HP:0002223
6 poikiloderma 33 very rare (1%) HP:0001029

Symptoms via clinical synopsis from OMIM:

58
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

MalaCards organs/tissues related to Parc Syndrome:

42
Skin

Publications for Parc Syndrome

Articles related to Parc Syndrome:

# Title Authors Year
1
Poikiloderma, alopecia, retrognathism and cleft palate: the PARC syndrome. Is this an undescribed dominantly inherited syndrome? ( 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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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