Congenital erythropoietic porphyria

General Information (adopted from Orphanet):

Synonyms, Signs: UROPORPHYRINOGEN III SYNTHASE DEFICIENCY
UROS DEFICIENCY
GUNTHER DISEASE
CEP
Günther disease
Number of Symptoms 44
OrphanetNr: 79277
OMIM Id: 263700
ICD-10: E80.0
UMLs:
MeSH:
MedDRA:
Snomed: 22935002

Prevalence, inheritance and age of onset:

Prevalence: > 200 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Porphyria
 -Rare genetic disease
 -Rare renal disease
 -Rare skin disease
Rare constitutional hemolytic anemia due to an enzyme disorder
 -Rare genetic disease
 -Rare hematologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0012086) Abnormal urinary color Very frequent [Orphanet] 19 / 7739
2
 (HPO:0000153) Abnormality of the mouth 60 / 7739
3
 (HPO:0011073) Abnormality of dental color Very frequent [Orphanet] 24 / 7739
4
 (HPO:0011457) Loss of eyelashes 2 / 7739
5
 (HPO:0000559) Corneal scarring 9 / 7739
6
 (HPO:0000509) Conjunctivitis 47 / 7739
7
 (HPO:0100716) Self-injurious behavior Very frequent [Orphanet] 43 / 7739
8
 (HPO:0009473) Joint contracture of the hand 84 / 7739
9
 (HPO:0002797) Osteolysis 68 / 7739
10
 (HPO:0002659) Increased susceptibility to fractures Frequent [Orphanet] 110 / 7739
11
 (HPO:0004349) Reduced bone mineral density Frequent [Orphanet] 165 / 7739
12
 (HPO:0000938) Osteopenia 138 / 7739
13
 (HPO:0002953) Vertebral compression fractures 14 / 7739
14
 (HPO:0002756) Pathologic fracture 30 / 7739
15
 (HPO:0001081) Cholelithiasis 36 / 7739
16
 (HPO:0001744) Splenomegaly Very frequent [Orphanet] 337 / 7739
17
 (HPO:0004322) Short stature 1232 / 7739
18
 (HPO:0100324) Scleroderma 6 / 7739
19
 (HPO:0001072) Thickened skin 87 / 7739
20
 (HPO:0000992) Cutaneous photosensitivity Very frequent [Orphanet] 75 / 7739
21
 (HPO:0001596) Alopecia 162 / 7739
22
 (HPO:0011362) Abnormal hair quantity Very frequent [Orphanet] 92 / 7739
23
 (HPO:0200037) Skin vesicle Very frequent [Orphanet] 102 / 7739
24
 (HPO:0000953) Hyperpigmentation of the skin 75 / 7739
25
 (HPO:0000998) Hypertrichosis 52 / 7739
26
 (HPO:0000987) Atypical scarring of skin 58 / 7739
27
 (HPO:0001010) Hypopigmentation of the skin 46 / 7739
28
 (HPO:0008066) Abnormal blistering of the skin 20 / 7739
29
 (HPO:0001878) Hemolytic anemia Very frequent [Orphanet] 83 / 7739
30
 (HPO:0001873) Thrombocytopenia Occasional [Orphanet] 224 / 7739
31
 (HPO:0010472) Abnormality of the heme biosynthetic pathway Very frequent [Orphanet] 2 / 7739
32
 (HPO:0010978) Abnormality of immune system physiology Frequent [Orphanet] 148 / 7739
33
 (HPO:0100699) Scarring 9 / 7739
34
 (OMIM) Contractures of the fingers 3 / 7739
35
 (OMIM) Pink urine 1 / 7739
36
 (OMIM) Hyperpigmentation 24 / 7739
37
 (HPO:0003577) Congenital onset 133 / 7739
38
 (OMIM) Porphyrin-rich gallstones 1 / 7739
39
 (OMIM) Red stained teeth (erythrodontia) 1 / 7739
40
 (OMIM) Mutilating skin deformity 1 / 7739
41
 (OMIM) Uroporphyrinogen III cosynthase (URO cosynthase) deficiency in blood and fibroblasts 1 / 7739
42
 (OMIM) Uroporphyrin I and coproporphyrin I are found in plasma, red blood cells, urine, and feces 1 / 7739
43
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
44
 (OMIM) Loss of eyebrows 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The porphyrias are diseases caused by defects in heme synthesis, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red ...
Diagnosis OMIM Tsai et al. (1987) described an enzymatic method for the diagnosis of heterozygotes and homozygotes. Pollack and Rosenthal (1994) illustrated the diagnosis of this disorder in a neonate by examining a urine-soaked diaper under Wood's light. Urine and ...
Clinical Description OMIM The most dramatic form of genetic porphyria is that which was early recognized as an inborn error of metabolism by Gunther (Dean, 1972). It is associated with lifelong overproduction of series I porphyrins which circulate and are deposited ...
Molecular genetics OMIM In a patient with Gunther disease, Deybach et al. (1990) and Warner et al. (1990) found a mutation in codon 73 of the uroporphyrinogen III synthase gene (606938.0001). Xu et al. (1996) stated that 17 mutations in the ...
Population genetics OMIM Congenital erythropoietic porphyria is exceedingly rare; as of 1997, about 130 cases had been reported (Fritsch et al., 1997).