MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE

General Information (adopted from Orphanet):

Synonyms, Signs: RHABDOMYOLYSIS, ACUTE RECURRENT
MYOGLOBINURIA, FAMILIAL PAROXYSMAL PARALYTIC
Number of Symptoms 9
OrphanetNr:
OMIM Id: 268200
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002913) Myoglobinuria 22 / 7739
2
(HPO:0001265) Hyporeflexia 208 / 7739
3
(HPO:0001315) Reduced tendon reflexes 160 / 7739
4
(HPO:0001284) Areflexia 198 / 7739
5
(HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
6
(HPO:0003326) Myalgia 143 / 7739
7
(HPO:0001324) Muscle weakness 859 / 7739
8
(OMIM) Rhabdomyolysis, episodic and recurrent 1 / 7739
9
(OMIM) Renal failure may occur 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Recurrent myoglobinuria is characterized by recurrent attacks of rhabdomyolysis associated with muscle pain and weakness and followed by excretion of myoglobin in the urine. Renal failure may occasionally occur. Onset is usually in early childhood under the age ...
Clinical Description OMIM Christensen et al. (1983) studied the disorder in 3 brothers. Muscle carnitine palmitoyltransferase was normal. During exercise, serum creatine kinase rose markedly from only slightly elevated levels at rest. Precipitation of attacks seemed to be related to complete ...
Molecular genetics OMIM In affected members of an Arab Muslim family with recurrent myoglobinuria, Zeharia et al. (2008) identified a homozygous mutation in the LPIN1 gene (605518.0001). Five additional LPIN1 mutations (see, e.g., 605518.0002-605518.0005) were identified in 4 of 22 additional ...