MCID: PGM029
MIFTS: 32

Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked

Categories: Genetic diseases, Eye diseases, Bone diseases, Blood diseases, Rare diseases

Aliases & Classifications for Pigmentary Disorder, Reticulate, with Systemic Manifestations,...

MalaCards integrated aliases for Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked:

Name: Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked 57 75 29 6
Xlpdr 57 59 75
Pdr 57 59 75
Pigmentary Disorder, Reticulate, with Systemic Manifestations 73
X-Linked Reticulate Pigmentary Disorder 59
Familial Cutaneous Amyloidosis 59
X-Linked Cutaneous Amyloidosis 59
Familial Lichen Amyloidosis 73
Partington Disease 59

Characteristics:

Orphanet epidemiological data:

59
x-linked reticulate pigmentary disorder
Inheritance: X-linked dominant;

OMIM:

57
Miscellaneous:
onset in early childhood
female carriers may have no manifestations or only skin pigmentation changes
males may die early from systemic disease

Inheritance:
x-linked recessive


HPO:

32
pigmentary disorder, reticulate, with systemic manifestations, x-linked:
Inheritance x-linked inheritance x-linked recessive inheritance


Classifications:



Summaries for Pigmentary Disorder, Reticulate, with Systemic Manifestations,...

UniProtKB/Swiss-Prot : 75 Pigmentary disorder, reticulate, with systemic manifestations, X-linked: A X-linked recessive disorder characterized by recurrent infections and sterile inflammation in various organs. Diffuse skin hyperpigmentation with a distinctive reticulate pattern is universally evident by early childhood. This is later followed in many patients by hypohidrosis, corneal inflammation and scarring, enterocolitis that resembles inflammatory bowel disease, and recurrent urethral strictures. Melanin and amyloid deposition is present in the dermis. Affected males also have a characteristic facies with frontally upswept hair and flared eyebrows. Female carriers have only restricted pigmentary changes along Blaschko's lines.

MalaCards based summary : Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked, also known as xlpdr, is related to microvascular complications of diabetes 1 and malaria, and has symptoms including diarrhea and photophobia. An important gene associated with Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked is POLA1 (DNA Polymerase Alpha 1, Catalytic Subunit). Affiliated tissues include skin, bone and eye, and related phenotypes are inguinal hernia and visual impairment

OMIM : 57 X-linked reticulate pigmentary disorder shows more severe manifestations in hemizygous males compared to heterozygous females. Affected males have early onset of recurrent respiratory infections and failure to thrive resulting from inflammatory gastroenteritis or colitis. Patients also show reticular pigmentation abnormalities of the skin and may develop corneal scarring. Carrier females may be unaffected or have only pigmentary abnormalities along the lines of Blaschko (summary by Starokadomskyy et al., 2016). (301220)

Wikipedia : 76 X-linked reticulate pigmentary disorder (also known as \"familial cutaneous amyloidosis\", \"Partington... more...

Related Diseases for Pigmentary Disorder, Reticulate, with Systemic Manifestations,...

Diseases related to Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 31)
# Related Disease Score Top Affiliating Genes
1 microvascular complications of diabetes 1 11.3
2 malaria 10.0
3 microvascular complications of diabetes 2 9.9
4 microvascular complications of diabetes 5 9.9
5 paragonimiasis 9.9
6 japanese encephalitis 9.8
7 opisthorchiasis 9.8
8 leptospirosis 9.8
9 cervicitis 9.8
10 measles 9.8
11 encephalitis 9.8
12 aging 9.7
13 cervical cancer 9.7
14 hepatitis 9.7
15 hepatitis b 9.7
16 infective endocarditis 9.7
17 endocarditis 9.7
18 diphtheria 9.7
19 nephrotic syndrome 9.7
20 scrub typhus 9.7
21 plasmodium falciparum malaria 9.7
22 cervix carcinoma 9.7
23 retinitis 9.7
24 mouth disease 9.7
25 lip cancer 9.7
26 rubella 9.7
27 parasitic helminthiasis infectious disease 9.7
28 amyloidosis 9.7
29 bacterial meningitis 9.7
30 meningitis 9.7
31 cryptogenic multifocal ulcerous stenosing enteritis 9.7

Graphical network of the top 20 diseases related to Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked:



Diseases related to Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked

Symptoms & Phenotypes for Pigmentary Disorder, Reticulate, with Systemic Manifestations,...

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
failure to thrive

Skin Nails Hair Skin:
hyperkeratosis
hypohidrosis
hyperpigmentation, reticulate pattern (follows the lines of blaschko in some carrier females)

Respiratory:
respiratory infections, recurrent

Skin Nails Hair Hair:
frontal upsweep

Laboratory Abnormalities:
increased il-8
increased plasma interferon i signature
decreased il-17a
decreased gamma-interferon

Head And Neck Eyes:
photophobia
corneal scarring
flared eyebrows
poor vision

Abdomen Gastrointestinal:
diarrhea
colitis
gastroenteritis

Genitourinary External Genitalia Male:
urethral strictures

Neurologic Central Nervous System:
intellectual disability (in some patients)

Skin Nails Hair Skin Histology:
melanin deposition in basal layer
amyloid deposition


Clinical features from OMIM:

301220

Human phenotypes related to Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked:

32 (show all 22)
# Description HPO Frequency HPO Source Accession
1 inguinal hernia 32 HP:0000023
2 visual impairment 32 HP:0000505
3 corneal scarring 32 HP:0000559
4 visual loss 32 HP:0000572
5 photophobia 32 HP:0000613
6 hyperkeratosis 32 HP:0000962
7 hypohidrosis 32 HP:0000966
8 intellectual disability 32 occasional (7.5%) HP:0001249
9 seizures 32 HP:0001250
10 global developmental delay 32 HP:0001263
11 failure to thrive in infancy 32 HP:0001531
12 abnormality of metabolism/homeostasis 32 HP:0001939
13 diarrhea 32 HP:0002014
14 hemiplegia 32 HP:0002301
15 colitis 32 HP:0002583
16 recurrent infection of the gastrointestinal tract 32 HP:0004798
17 recurrent pneumonia 32 HP:0006532
18 generalized reticulate brown pigmentation 32 HP:0007599
19 opacification of the corneal stroma 32 HP:0007759
20 amyloidosis 32 HP:0011034
21 broad eyebrow 32 HP:0011229
22 urethral stricture 32 HP:0012227

UMLS symptoms related to Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked:


diarrhea, photophobia

Drugs & Therapeutics for Pigmentary Disorder, Reticulate, with Systemic Manifestations,...

Search Clinical Trials , NIH Clinical Center for Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked

Genetic Tests for Pigmentary Disorder, Reticulate, with Systemic Manifestations,...

Genetic tests related to Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked:

# Genetic test Affiliating Genes
1 Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked 29 POLA1

Anatomical Context for Pigmentary Disorder, Reticulate, with Systemic Manifestations,...

MalaCards organs/tissues related to Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked:

41
Skin, Bone, Eye

Publications for Pigmentary Disorder, Reticulate, with Systemic Manifestations,...

Articles related to Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked:

# Title Authors Year
1
X-linked reticulate pigmentary disorder with systemic manifestations: a new family and review of the literature. ( 23613254 )
2013
2
Cryptogenic multifocal ulcerous stenosing enteritis (CMUSE) in a man with a diagnosis of X-linked reticulate pigmentary disorder (PDR). ( 18365917 )
2008
3
Refined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genes. ( 18404279 )
2008
4
Localisation of the gene for X-linked reticulate pigmentary disorder with systemic manifestations (PDR), previously known as X-linked cutaneous amyloidosis. ( 7977467 )
1994
5
An X-linked reticulate pigmentary disorder with systemic manifestations: report of a second family. ( 8302737 )
1993

Variations for Pigmentary Disorder, Reticulate, with Systemic Manifestations,...

ClinVar genetic disease variations for Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 POLA1 NM_016937.3(POLA1): c.1375-354A> G single nucleotide variant Pathogenic rs869312979 GRCh38 Chromosome X, 24726579: 24726579
2 POLA1 NM_016937.3(POLA1): c.1375-354A> G single nucleotide variant Pathogenic rs869312979 GRCh37 Chromosome X, 24744696: 24744696
3 POLA1 NM_016937.3(POLA1): c.394A> G (p.Asn132Asp) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 24732736: 24732736
4 POLA1 NM_016937.3(POLA1): c.394A> G (p.Asn132Asp) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 24714619: 24714619

Expression for Pigmentary Disorder, Reticulate, with Systemic Manifestations,...

Search GEO for disease gene expression data for Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked.

Pathways for Pigmentary Disorder, Reticulate, with Systemic Manifestations,...

GO Terms for Pigmentary Disorder, Reticulate, with Systemic Manifestations,...

Sources for Pigmentary Disorder, Reticulate, with Systemic Manifestations,...

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17 ExPASy
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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73 UMLS
74 UMLS via Orphanet
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