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MCID: FBL008
MIFTS: 48
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Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly
Categories:
Genetic diseases, Rare diseases, Bone diseases, Fetal diseases
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Aliases & Classifications for Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-,...
MalaCards integrated aliases for Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly:
Characteristics:Orphanet epidemiological data:59
fuhrmann syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
allelic to ulnar and fibula, absence of, with severe limb deficiency (al-awadi/raas-rothschild/schinzel phocomelia syndrome ) HPO:32
fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly:
Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Bone diseases
ICD10:
33
34
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NIH Rare Diseases
:
53
Fuhrmann syndrome is a very rare genetic syndrome characterized by skeletal abnormalities. It is a type of skeletal dysplasia. Signs and symptoms of Fuhrmann syndrome are present from birth and may include bowing of the femurs (the upper bones of the legs), having no fibula (lower bone of the leg) or a smaller fibula than usual, and having more fingers or toes than normal (polydactyly) or fewer fingers or toes than normal (oligodactyly).
Fuhrmann syndrome is caused by mutations (changes) to the WNT7A gene and is inherited in an autosomal recessive manner. Diagnosis of the syndrome can be made when a doctor observes signs and symptoms consistent with the syndrome. The diagnosis can be confirmed by genetic testing. Treatment for Fuhrmann syndrome depends on the specific symptoms of each affected person, but may include surgical options.
MalaCards based summary : Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly, also known as fuhrmann syndrome, is related to fibular aplasia, tibial campomelia, and oligosyndactyly syndrome and fibular aplasia ectrodactyly. An important gene associated with Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly is WNT7A (Wnt Family Member 7A), and among its related pathways/superpathways are Gastric cancer and Pathways in cancer. Affiliated tissues include bone, testes and uterus, and related phenotypes are amenorrhea and postaxial hand polydactyly UniProtKB/Swiss-Prot : 75 Fuhrmann syndrome: Distinct limb-malformation disorder characterized also by various degrees of limb aplasia/hypoplasia and joint dysplasia. Disease Ontology : 12 A bone development disease characterized by autosomal recessive inheritance of bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly that has material basis in homozygous mutation in the WNT7A gene on chromosome 3p25.
Description from OMIM:
228930
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:228930Human phenotypes related to Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly:32 (show all 27)
MGI Mouse Phenotypes related to Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly:46 (show all 15)
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MalaCards organs/tissues related to Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly:41
Bone,
Testes,
Uterus
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Articles related to Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly:
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Genes related to Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly (1 elite genes):(show all 13)
- Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly:75
ClinVar genetic disease variations for Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly:6
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Search
GEO
for disease gene expression data for Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly.
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Pathways related to Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly according to GeneCards Suite gene sharing:(show all 12)
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Biological processes related to Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly according to GeneCards Suite gene sharing:(show all 30)
Molecular functions related to Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly according to GeneCards Suite gene sharing:
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