HARPO
MCID: HRD090
MIFTS: 20

Harderoporphyria (HARPO)

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Harderoporphyria

MalaCards integrated aliases for Harderoporphyria:

Name: Harderoporphyria 56 6
Harpo 56

Characteristics:

OMIM:

56
Miscellaneous:
incomplete penetrance
mutations in the cpo gene cause 3 clinically distinct disorders, hereditary coproporphyria (hcp), 'homozygous' variant hereditary coproporphyria, or harderoporphyria
attacks rarely occur before puberty (hcp)
attacks precipitated by drugs, alcohol, and endocrine factors (hcp)
no abdominal symptoms or neurologic symptoms in harderoporphyria

Inheritance:
autosomal recessive


Classifications:



External Ids:

OMIM 56 618892

Summaries for Harderoporphyria

OMIM : 56 Harderoporphyria (HARPO) is a rare erythropoietic variant form of hereditary coproporphyria (HCP; 121300) characterized by neonatal hemolytic anemia, sometimes accompanied by skin lesions, and massive excretion of harderoporphyrin in feces. During childhood and adulthood, a mild residual anemia is chronically observed (review by Schmitt et al., 2005). (618892)

MalaCards based summary : Harderoporphyria, also known as harpo, is related to coproporphyria, hereditary and porphyria. An important gene associated with Harderoporphyria is CPOX (Coproporphyrinogen Oxidase). Affiliated tissues include skin.

Wikipedia : 74 Harderoporphyria is a rare disorder of heme biosynthesis, inherited in an autosomal recessive manner... more...

Related Diseases for Harderoporphyria

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

# Related Disease Score Top Affiliating Genes
1 coproporphyria, hereditary 11.7
2 porphyria 10.6
3 hemolytic anemia 10.5
4 acute porphyria 10.4
5 neonatal anemia 10.2
6 hemosiderosis 10.2
7 bilirubin metabolic disorder 10.2
8 rare hereditary hemochromatosis 10.2

Graphical network of the top 20 diseases related to Harderoporphyria:



Diseases related to Harderoporphyria

Symptoms & Phenotypes for Harderoporphyria

Symptoms via clinical synopsis from OMIM:

56
Neurologic Peripheral Nervous System:
peripheral neuropathy

Cardiovascular Vascular:
hypertension (hcp)

Abdomen Liver:
hepatomegaly (harderoporphyria)

Abdomen Gastrointestinal:
abdominal pain (hcp)
severe constipation
vomiting (hcp)
diarrhea (hcp)

Neurologic Central Nervous System:
acute episodes of neuropathic symptoms (hcp)
paresis (hcp)

Hematology:
neonatal hemolytic anemia (harderoporphyria)

Cardiovascular Heart:
tachycardia (hereditary coproporphyria, hcp)

Respiratory Lung:
respiratory paralysis (hcp)

Abdomen Spleen:
splenomegaly (harderoporphyria)

Skin Nails Hair Skin:
photosensitivity (harderoporphyria and hcp)
jaundice (harderoporphyria)

Neurologic Behavioral Psychiatric Manifestations:
anxiety (hcp)
depression (hcp)
insomnia (hcp)
disorientation (hcp)
hallucinations (hcp)
more
Laboratory Abnormalities:
decreased coproporphyrinogen oxidase activity (hcp, lymphocytes, 50% of normal)
increased coproporphyrin isomer iii:i ratio (hcp, feces)
increased harderoporphyrin excretion (feces, harderoporphyria)
markedly decreased coproporphyrinogen oxidase activity (harderoporphyria, lymphocytes)

Clinical features from OMIM:

618892

Drugs & Therapeutics for Harderoporphyria

Search Clinical Trials , NIH Clinical Center for Harderoporphyria

Genetic Tests for Harderoporphyria

Anatomical Context for Harderoporphyria

MalaCards organs/tissues related to Harderoporphyria:

40
Skin

Publications for Harderoporphyria

Articles related to Harderoporphyria:

(show all 15)
# Title Authors PMID Year
1
Harderoporphyria due to homozygosity for coproporphyrinogen oxidase missense mutation H327R. 6 56 61
21103937 2011
2
Mutations in human CPO gene predict clinical expression of either hepatic hereditary coproporphyria or erythropoietic harderoporphyria. 6 56 61
16159891 2005
3
A molecular defect in coproporphyrinogen oxidase gene causing harderoporphyria, a variant form of hereditary coproporphyria. 6 61 56
7757079 1995
4
Harderoporphyria: a variant hereditary coproporphyria. 61 6 56
6886003 1983
5
Neonatal hemolytic anemia due to inherited harderoporphyria: clinical characteristics and molecular basis. 6 61
9454777 1998
6
Coproporphyrinogen oxidase: gene organization and description of a mutation leading to exon 6 skipping. 6
7987309 1994
7
Molecular cloning, sequencing and expression of cDNA encoding human coproporphyrinogen oxidase. 6
8286403 1994
8
Harderoporphyrin coproporphyria. 56
6143037 1984
9
Harderoporphyria: Case of lifelong photosensitivity associated with compound heterozygous coproporphyrinogen oxidase (CPOX) mutations. 61
30828546 2019
10
[The cutaneous porphyrias]. 61
30709634 2019
11
Neonatal-Onset Hereditary Coproporphyria: A New Variant of Hereditary Coproporphyria. 61
28349448 2017
12
The enzyme engineering of mutant homodimer and heterodimer of coproporphyinogen oxidase contributes to new insight into hereditary coproporphyria and harderoporphyria. 61
24078084 2013
13
Structural basis of hereditary coproporphyria. 61
16176984 2005
14
Neonatal-onset hereditary coproporphyria with male pseudohermaphrodism. 61
11739202 2001
15
Characterization of mutations in the CPO gene in British patients demonstrates absence of genotype-phenotype correlation and identifies relationship between hereditary coproporphyria and harderoporphyria. 61
11309681 2001

Variations for Harderoporphyria

ClinVar genetic disease variations for Harderoporphyria:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CPOX NM_000097.7(CPOX):c.1277+3A>GSNV Pathogenic 457 rs370245685 3:98300248-98300248 3:98581404-98581404
2 CPOX NM_000097.7(CPOX):c.980A>G (p.His327Arg)SNV Pathogenic 126445 rs587777271 3:98304477-98304477 3:98585633-98585633
3 CPOX NM_000097.7(CPOX):c.1210A>G (p.Lys404Glu)SNV Likely pathogenic 453 rs121917868 3:98300318-98300318 3:98581474-98581474

Expression for Harderoporphyria

Search GEO for disease gene expression data for Harderoporphyria.

Pathways for Harderoporphyria

GO Terms for Harderoporphyria

Sources for Harderoporphyria

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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